ClinVar Miner

List of variants reported as pathogenic for Propionic acidemia

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 335
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HGVS dbSNP gnomAD frequency
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528 0.00088
NM_000532.5(PCCB):c.1606A>G (p.Asn536Asp) rs202247823 0.00016
NM_000282.4(PCCA):c.1284+1G>A rs752761437 0.00007
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp) rs141371306 0.00006
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp) rs121964959 0.00006
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_000282.4(PCCA):c.937C>T (p.Arg313Ter) rs138149179 0.00003
NM_000532.5(PCCB):c.1087T>C (p.Ser363Pro) rs770341883 0.00003
NM_000532.5(PCCB):c.1398+1G>T rs794727092 0.00003
NM_000532.5(PCCB):c.562G>A (p.Gly188Arg) rs746102997 0.00003
NM_000282.4(PCCA):c.775_779del (p.Leu259fs) rs794726976 0.00002
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961 0.00002
NM_000532.5(PCCB):c.836C>T (p.Pro279Leu) rs780837200 0.00002
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys) rs121964958 0.00001
NM_000282.4(PCCA):c.1181G>A (p.Trp394Ter) rs1165198558 0.00001
NM_000282.4(PCCA):c.1195C>T (p.Arg399Trp) rs1234167788 0.00001
NM_000282.4(PCCA):c.1196G>A (p.Arg399Gln) rs1301904623 0.00001
NM_000282.4(PCCA):c.1268C>T (p.Pro423Leu) rs1443858896 0.00001
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter) rs768703749 0.00001
NM_000282.4(PCCA):c.1430G>T (p.Gly477Val) rs776355907 0.00001
NM_000282.4(PCCA):c.1540+1G>C rs199604072 0.00001
NM_000282.4(PCCA):c.1746G>A (p.Ser582=) rs192171304 0.00001
NM_000282.4(PCCA):c.1788G>A (p.Trp596Ter) rs776496862 0.00001
NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter) rs1194679272 0.00001
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg) rs771438170 0.00001
NM_000282.4(PCCA):c.2041-2A>G rs776281864 0.00001
NM_000282.4(PCCA):c.2056G>T (p.Glu686Ter) rs1241896966 0.00001
NM_000282.4(PCCA):c.2119-9A>G rs1389933015 0.00001
NM_000282.4(PCCA):c.230G>A (p.Arg77Gln) rs1387778734 0.00001
NM_000282.4(PCCA):c.231+1G>C rs972937270 0.00001
NM_000282.4(PCCA):c.415-2A>C rs746286209 0.00001
NM_000282.4(PCCA):c.451G>T (p.Glu151Ter) rs2053984648 0.00001
NM_000282.4(PCCA):c.688C>T (p.Arg230Cys) rs778530330 0.00001
NM_000282.4(PCCA):c.863G>A (p.Arg288Lys) rs879253810 0.00001
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg) rs1444049793 0.00001
NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile) rs111033542 0.00001
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val) rs751538672 0.00001
NM_000532.5(PCCB):c.1309G>A (p.Gly437Ser) rs1349202366 0.00001
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys) rs769521436 0.00001
NM_000532.5(PCCB):c.1399-2_1399-1del rs1317123493 0.00001
NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter) rs202247820 0.00001
NM_000532.5(PCCB):c.1556T>C (p.Leu519Pro) rs202247822 0.00001
NM_000532.5(PCCB):c.331C>T (p.Arg111Ter) rs753981900 0.00001
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter) rs186031457 0.00001
NM_000532.5(PCCB):c.371del (p.Gln124fs) rs1481849460 0.00001
NM_000532.5(PCCB):c.3G>A (p.Met1Ile) rs398123464 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.733G>A (p.Gly245Ser) rs756414710 0.00001
NM_000532.5(PCCB):c.825dup (p.Asn276fs) rs748393514 0.00001
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter) rs572246667 0.00001
NC_000003.11:g.(?_135969205)_(135980927_?)del
NC_000003.11:g.(?_135974678)_(135979397_?)del
NC_000003.11:g.(?_135974688)_(136003251_?)del
NC_000003.11:g.(?_135979301)_(135980927_?)del
NC_000003.11:g.(?_136002659)_(136016934_?)del
NC_000003.11:g.(?_136002659)_(136035926_?)del
NC_000003.11:g.(?_136002669)_(136048878_?)del
NC_000003.11:g.(?_136012588)_(136035916_?)del
NC_000003.11:g.(?_136016774)_(136016934_?)del
NC_000003.11:g.(?_136019862)_(136019963_?)del
NC_000003.11:g.(?_136019910)_(136021257_?)del
NC_000003.12:g.(?_136250366)_(136250568_?)del
NC_000003.12:g.(?_136316921)_(136317084_?)del
NC_000013.10:g.(100925601_100953713)_(101077986_101101505)del
NC_000013.10:g.(?_100741259)_(100741489_?)del
NC_000013.10:g.(?_100741375)_(101182420_?)del
NC_000013.10:g.(?_100807223)_(100809604_?)del
NC_000013.10:g.(?_100861566)_(100962182_?)del
NC_000013.10:g.(?_100861566)_(101020848_?)del
NC_000013.10:g.(?_100861576)_(100955262_?)del
NC_000013.10:g.(?_100888076)_(100888152_?)del
NC_000013.10:g.(?_100888076)_(101020848_?)del
NC_000013.10:g.(?_100888086)_(100992523_?)del
NC_000013.10:g.(?_100909829)_(100909947_?)del
NC_000013.10:g.(?_100909829)_(101020848_?)del
NC_000013.10:g.(?_100909829)_(101101579_?)del
NC_000013.10:g.(?_100909839)_(100992523_?)del
NC_000013.10:g.(?_100920933)_(100925610_?)del
NC_000013.10:g.(?_100925430)_(100925620_?)del
NC_000013.10:g.(?_100953694)_(100962182_?)del
NC_000013.10:g.(?_100953694)_(100992533_?)del
NC_000013.10:g.(?_100953694)_(101078005_?)del
NC_000013.10:g.(?_100953694)_(101101579_?)del
NC_000013.10:g.(?_100962067)_(100992533_?)del
NC_000013.10:g.(?_100971208)_(100992469_?)del
NC_000013.10:g.(?_100992391)_(100992533_?)del
NC_000013.10:g.(?_101020706)_(101020848_?)del
NC_000013.10:g.(?_101020716)_(101101569_?)del
NC_000013.10:g.(?_101101486)_(101101579_?)del
NC_000013.10:g.(?_101167661)_(101167841_?)del
NC_000013.10:g.(?_101167671)_(101182701_?)del
NC_000013.10:g.(?_101179909)_(101180026_?)del
NC_000013.10:g.(?_101179909)_(101182420_?)del
NC_000013.11:g.(?_100111821)_(100112081_?)del
NC_000013.11:g.(?_100111831)_(100112071_?)del
NC_000013.11:g.(?_100209322)_(100235888_?)del
NC_000013.11:g.(?_100268679)_(100268793_?)del
NC_000013.11:g.(?_100301450)_(100425741_?)del
NC_000013.11:g.(?_100330541)_(100368594_?)del
NC_000013.11:g.(?_100527655)_(100530186_?)del
NC_000013.11:g.(?_100527665)_(100530447_?)del
NG_008939.1(PCCB):g.896_8947del
NM_000282.4(PCCA):c.1003_1012del (p.Val335fs)
NM_000282.4(PCCA):c.1023dup (p.Lys342Ter) rs398123297
NM_000282.4(PCCA):c.105+1G>A rs879253804
NM_000282.4(PCCA):c.1067_1068insCT (p.Glu357fs) rs2152683826
NM_000282.4(PCCA):c.1132A>T (p.Lys378Ter)
NM_000282.4(PCCA):c.1138dup (p.Tyr380fs)
NM_000282.4(PCCA):c.1178dup (p.Trp394fs)
NM_000282.4(PCCA):c.1187T>G (p.Val396Gly) rs1555411216
NM_000282.4(PCCA):c.1189G>T (p.Glu397Ter) rs1295357399
NM_000282.4(PCCA):c.1190_1193del (p.Glu397fs) rs879253806
NM_000282.4(PCCA):c.1209+3A>G rs1467680142
NM_000282.4(PCCA):c.1226_1227del (p.Phe409fs)
NM_000282.4(PCCA):c.1268dup (p.Leu424fs)
NM_000282.4(PCCA):c.127C>T (p.Gln43Ter) rs2047400320
NM_000282.4(PCCA):c.1284+2dup rs776978090
NM_000282.4(PCCA):c.1285-1416A>G rs1362195093
NM_000282.4(PCCA):c.1288C>T (p.Arg430Ter) rs776821944
NM_000282.4(PCCA):c.1312G>T (p.Gly438Ter) rs2152692650
NM_000282.4(PCCA):c.131delinsATT (p.Cys44fs) rs1594090133
NM_000282.4(PCCA):c.1330dup (p.Tyr444fs) rs1595236063
NM_000282.4(PCCA):c.134_135del (p.Leu45fs) rs879253809
NM_000282.4(PCCA):c.1353+5_1353+9del rs764045674
NM_000282.4(PCCA):c.1364_1365del (p.Tyr455fs)
NM_000282.4(PCCA):c.1415dup (p.Asn472fs)
NM_000282.4(PCCA):c.1418_1419del (p.Tyr473fs)
NM_000282.4(PCCA):c.1456C>T (p.Arg486Ter) rs2069404553
NM_000282.4(PCCA):c.145del (p.Arg49fs) rs2047402577
NM_000282.4(PCCA):c.1477del (p.Arg493fs) rs746733688
NM_000282.4(PCCA):c.1495del (p.Ile499fs)
NM_000282.4(PCCA):c.1539del (p.Gly514fs) rs1566945996
NM_000282.4(PCCA):c.1558_1559dup (p.Ser520fs)
NM_000282.4(PCCA):c.1561G>T (p.Glu521Ter) rs2071086995
NM_000282.4(PCCA):c.1598_1601del (p.Phe533fs) rs1344574242
NM_000282.4(PCCA):c.16del (p.Val6fs)
NM_000282.4(PCCA):c.1716dup (p.Val573fs) rs2152811869
NM_000282.4(PCCA):c.1746+1G>A rs2075369142
NM_000282.4(PCCA):c.1746+2T>C
NM_000282.4(PCCA):c.1747-1G>C rs879253803
NM_000282.4(PCCA):c.1763C>A (p.Ser588Ter)
NM_000282.4(PCCA):c.1772_1778dup (p.Ser594fs)
NM_000282.4(PCCA):c.183+4_183+7del rs1555342581
NM_000282.4(PCCA):c.1831C>T (p.Gln611Ter) rs2152894046
NM_000282.4(PCCA):c.184-1G>A rs879253807
NM_000282.4(PCCA):c.1845+1G>A rs1595860868
NM_000282.4(PCCA):c.1845+2T>G
NM_000282.4(PCCA):c.1846-2_1852del rs2152925644
NM_000282.4(PCCA):c.1847_1848del
NM_000282.4(PCCA):c.184del (p.Thr62fs) rs879253812
NM_000282.4(PCCA):c.1899+2_1899+3insCT rs2081058900
NM_000282.4(PCCA):c.1899+4_1899+7del rs794727334
NM_000282.4(PCCA):c.1902C>G (p.Tyr634Ter)
NM_000282.4(PCCA):c.1920del (p.Arg641fs) rs1594099731
NM_000282.4(PCCA):c.1977_1978dup (p.Ser660fs)
NM_000282.4(PCCA):c.1994dup (p.Met666fs) rs1323994245
NM_000282.4(PCCA):c.199del (p.Val68fs)
NM_000282.4(PCCA):c.2027del (p.Lys676fs) rs1555327702
NM_000282.4(PCCA):c.2040G>A (p.Ala680=) rs369982920
NM_000282.4(PCCA):c.2062T>C (p.Cys688Arg) rs774949844
NM_000282.4(PCCA):c.2098_2104del (p.Thr700fs)
NM_000282.4(PCCA):c.2103del (p.Thr704fs) rs1555331314
NM_000282.4(PCCA):c.2119-1G>C
NM_000282.4(PCCA):c.2119-2A>G rs867315913
NM_000282.4(PCCA):c.2129_2130del (p.Val710fs) rs1317003529
NM_000282.4(PCCA):c.217G>T (p.Glu73Ter) rs2152278559
NM_000282.4(PCCA):c.234del (p.Ile79fs)
NM_000282.4(PCCA):c.24_46dup (p.Arg16fs) rs999936193
NM_000282.4(PCCA):c.270dup (p.Ala91fs)
NM_000282.4(PCCA):c.284A>G (p.Asp95Gly) rs879253801
NM_000282.4(PCCA):c.284del (p.Asp95fs) rs775825345
NM_000282.4(PCCA):c.2T>A (p.Met1Lys) rs372093520
NM_000282.4(PCCA):c.305del (p.His102fs) rs1594413545
NM_000282.4(PCCA):c.322G>T (p.Glu108Ter)
NM_000282.4(PCCA):c.334_335del (p.Val112fs) rs1594413897
NM_000282.4(PCCA):c.39del (p.Ala14fs) rs1593996563
NM_000282.4(PCCA):c.412G>A (p.Ala138Thr) rs202247814
NM_000282.4(PCCA):c.415-1G>A
NM_000282.4(PCCA):c.415-2A>G rs746286209
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_000282.4(PCCA):c.431G>T (p.Gly144Val) rs879253808
NM_000282.4(PCCA):c.43G>T (p.Gly15Ter) rs1593996636
NM_000282.4(PCCA):c.440del (p.Leu146_Ser147insTer) rs1555361758
NM_000282.4(PCCA):c.446del (p.Asn149fs) rs1206838893
NM_000282.4(PCCA):c.449_450del (p.Lys150fs)
NM_000282.4(PCCA):c.467T>A (p.Leu156Ter) rs760387660
NM_000282.4(PCCA):c.468+1G>A rs766139678
NM_000282.4(PCCA):c.497del (p.Pro166fs)
NM_000282.4(PCCA):c.49_53del (p.Arg17fs)
NM_000282.4(PCCA):c.505_506del (p.His169fs) rs2152478652
NM_000282.4(PCCA):c.506dup (p.His169fs) rs2152478688
NM_000282.4(PCCA):c.548T>G (p.Leu183Ter) rs879253811
NM_000282.4(PCCA):c.556A>T (p.Lys186Ter) rs2059069232
NM_000282.4(PCCA):c.562_573del (p.Glu188_Thr191del) rs2152478820
NM_000282.4(PCCA):c.600+1G>A rs879253802
NM_000282.4(PCCA):c.600+1G>T rs879253802
NM_000282.4(PCCA):c.615dup (p.Val206fs) rs1566767338
NM_000282.4(PCCA):c.645dup (p.Val216fs)
NM_000282.4(PCCA):c.656dup (p.Ala220fs) rs1594961338
NM_000282.4(PCCA):c.672dup (p.Gly225fs) rs1164986524
NM_000282.4(PCCA):c.699G>A (p.Trp233Ter)
NM_000282.4(PCCA):c.69_78del (p.Gln23fs) rs781030239
NM_000282.4(PCCA):c.717-2A>G rs2062611307
NM_000282.4(PCCA):c.722del (p.Gly241fs) rs745571507
NM_000282.4(PCCA):c.734C>A (p.Ser245Ter)
NM_000282.4(PCCA):c.734C>G (p.Ser245Ter) rs1594992191
NM_000282.4(PCCA):c.737dup (p.Gln247fs)
NM_000282.4(PCCA):c.789del (p.Phe263fs)
NM_000282.4(PCCA):c.843del (p.Asn281fs) rs1555400381
NM_000282.4(PCCA):c.85del (p.Ala29fs)
NM_000282.4(PCCA):c.862A>G (p.Arg288Gly) rs121964957
NM_000282.4(PCCA):c.862A>T (p.Arg288Ter) rs121964957
NM_000282.4(PCCA):c.866_867del (p.Glu289fs) rs760976198
NM_000282.4(PCCA):c.872C>G (p.Ser291Ter) rs1595033018
NM_000282.4(PCCA):c.877C>G (p.Gln293Glu)
NM_000282.4(PCCA):c.878A>G (p.Gln293Arg) rs879253805
NM_000282.4(PCCA):c.891_892del (p.Lys298fs)
NM_000282.4(PCCA):c.915-1G>C rs367615795
NM_000282.4(PCCA):c.923dup (p.Leu308fs) rs573607437
NM_000282.4(PCCA):c.955C>T (p.Gln319Ter)
NM_000282.4(PCCA):c.959C>A (p.Ala320Asp)
NM_000282.4(PCCA):c.978del (p.Ala326_Val327insTer)
NM_000532.4(PCCB):c.1218_1231delGGGCATCATCCGGCins12 (p.?)
NM_000532.5(PCCB):c.-8_12del (p.Met1fs) rs2108127602
NM_000532.5(PCCB):c.1008T>G (p.Tyr336Ter)
NM_000532.5(PCCB):c.1027_1028dup (p.Phe344fs) rs2108226643
NM_000532.5(PCCB):c.1043_1044del (p.Asn348fs) rs2108226666
NM_000532.5(PCCB):c.105dup (p.Asn36Ter) rs2108127935
NM_000532.5(PCCB):c.1090_1090+1insTC
NM_000532.5(PCCB):c.1091-8_1091-3del rs1249235758
NM_000532.5(PCCB):c.10del (p.Ala4fs)
NM_000532.5(PCCB):c.1126C>T (p.Arg376Cys) rs200306164
NM_000532.5(PCCB):c.1131dup (p.Val378fs)
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.1146T>A (p.Asp382Glu) rs2108237867
NM_000532.5(PCCB):c.1172T>C (p.Phe391Ser)
NM_000532.5(PCCB):c.1172_1173del (p.Phe391fs) rs587776758
NM_000532.5(PCCB):c.1173dup (p.Val392fs) rs587776758
NM_000532.5(PCCB):c.1199-1G>C
NM_000532.5(PCCB):c.1199-2A>G
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.1217_1218insTA (p.Gly407fs) rs750343369
NM_000532.5(PCCB):c.1218_1228delinsTAGAGCACA (p.Gly407fs)
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs) rs397507445
NM_000532.5(PCCB):c.1220del (p.Gly407fs) rs1576360488
NM_000532.5(PCCB):c.1223_1226del (p.Ile408fs)
NM_000532.5(PCCB):c.1260dup (p.Glu421Ter) rs1553784569
NM_000532.5(PCCB):c.1275del (p.Val427fs) rs2108238464
NM_000532.5(PCCB):c.1283_1284del (p.Thr428fs) rs775583360
NM_000532.5(PCCB):c.1299+3_1299+10del
NM_000532.5(PCCB):c.1353_1356del (p.Asn452fs)
NM_000532.5(PCCB):c.135_148del (p.Ala46fs)
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.1379_1385del (p.Ile460fs) rs1553784721
NM_000532.5(PCCB):c.1398+1G>A
NM_000532.5(PCCB):c.1398+1G>C
NM_000532.5(PCCB):c.1422del (p.His476fs) rs2108240287
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.1465A>T (p.Lys489Ter)
NM_000532.5(PCCB):c.1478del (p.Pro493fs)
NM_000532.5(PCCB):c.1498+2T>C rs879253816
NM_000532.5(PCCB):c.1499-1G>C rs1935478339
NM_000532.5(PCCB):c.14T>G (p.Leu5Ter) rs1292452485
NM_000532.5(PCCB):c.1514T>A (p.Ile505Asn)
NM_000532.5(PCCB):c.1519C>T (p.Gln507Ter) rs2108241656
NM_000532.5(PCCB):c.152dup (p.Gln52fs) rs1941483338
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.1540C>T (p.Arg514Ter) rs749908889
NM_000532.5(PCCB):c.155_183+17del rs1941483558
NM_000532.5(PCCB):c.1582C>T (p.Gln528Ter) rs1935482553
NM_000532.5(PCCB):c.167_179delinsC (p.Asp56_Lys60delinsAla)
NM_000532.5(PCCB):c.174_175delinsTA (p.Gln58_His59delinsHisAsn) rs2108128131
NM_000532.5(PCCB):c.180_181delinsTT (p.Lys60_Arg61delinsAsnTer) rs2108128163
NM_000532.5(PCCB):c.183+5G>A rs879253813
NM_000532.5(PCCB):c.184-2A>G rs1553774015
NM_000532.5(PCCB):c.184-49_188delinsTGCTTTGCTTGCTTTGCTTTGCTTT rs1559995259
NM_000532.5(PCCB):c.187_203del rs2108137253
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.335G>A (p.Gly112Asp) rs202247818
NM_000532.5(PCCB):c.369_372del (p.Ser123fs)
NM_000532.5(PCCB):c.372+2T>C rs879253814
NM_000532.5(PCCB):c.386_387delinsAAC (p.Phe129Ter) rs398123463
NM_000532.5(PCCB):c.386delinsAA (p.Phe129Ter)
NM_000532.5(PCCB):c.415C>T (p.Gln139Ter)
NM_000532.5(PCCB):c.420_421dup (p.Ile141fs) rs1941792521
NM_000532.5(PCCB):c.427A>T (p.Lys143Ter)
NM_000532.5(PCCB):c.430-1G>A rs2108146606
NM_000532.5(PCCB):c.433_434insGCTGTTA (p.Met145fs) rs2108146615
NM_000532.5(PCCB):c.439C>T (p.Gln147Ter)
NM_000532.5(PCCB):c.446dup (p.Thr150fs)
NM_000532.5(PCCB):c.449del (p.Thr150fs)
NM_000532.5(PCCB):c.457G>C (p.Ala153Pro) rs202247819
NM_000532.5(PCCB):c.461C>T (p.Pro154Leu)
NM_000532.5(PCCB):c.467T>C (p.Ile156Thr) rs1559998737
NM_000532.5(PCCB):c.483_484del (p.Gly163fs)
NM_000532.5(PCCB):c.487_488dup (p.Ala164fs) rs1553774884
NM_000532.5(PCCB):c.494G>C (p.Arg165Pro)
NM_000532.5(PCCB):c.499C>T (p.Gln167Ter)
NM_000532.5(PCCB):c.505G>T (p.Gly169Ter) rs1941842008
NM_000532.5(PCCB):c.517_518del (p.Leu173fs) rs755776820
NM_000532.5(PCCB):c.553dup (p.Thr185fs) rs777455573
NM_000532.5(PCCB):c.581_584dup (p.Ile196fs)
NM_000532.5(PCCB):c.59_60del (p.Gly20fs)
NM_000532.5(PCCB):c.600T>A (p.Cys200Ter) rs759098964
NM_000532.5(PCCB):c.614T>A (p.Val205Asp) rs1303129574
NM_000532.5(PCCB):c.638del (p.Phe213fs) rs1196443543
NM_000532.5(PCCB):c.649dup (p.Val217fs) rs796052021
NM_000532.5(PCCB):c.654+462A>G rs1576327011
NM_000532.5(PCCB):c.655-2A>G rs1553778865
NM_000532.5(PCCB):c.683del (p.Pro228fs) rs2108197244
NM_000532.5(PCCB):c.737G>T (p.Gly246Val) rs2108197348
NM_000532.5(PCCB):c.751_752del (p.Thr251fs) rs2108197377
NM_000532.5(PCCB):c.76dup (p.Arg26fs) rs1941479615
NM_000532.5(PCCB):c.819_843delinsGATTACACGGG (p.Asp273fs)
NM_000532.5(PCCB):c.838dup (p.Leu280fs) rs769968548
NM_000532.5(PCCB):c.839del (p.Leu280fs) rs1576337935
NM_000532.5(PCCB):c.847C>T (p.Gln283Ter)
NM_000532.5(PCCB):c.947T>G (p.Met316Arg) rs2108208811
NM_000532.5(PCCB):c.966+1G>T rs1385850128
NM_000532.5(PCCB):c.968TTG[1] (p.Val324del) rs1353971489
NM_000532.5(PCCB):c.990dup (p.Glu331Ter) rs786200983
NM_000532.5(PCCB):c.991G>T (p.Glu331Ter) rs2108226567

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