ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 589
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HGVS dbSNP gnomAD frequency
NM_000282.4(PCCA):c.637+102A>G rs539158 0.14245
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359 0.04130
NM_000282.4(PCCA):c.1429+7A>G rs16957276 0.01356
NM_000282.4(PCCA):c.1846-9G>T rs141118743 0.00627
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895 0.00606
NM_000282.4(PCCA):c.145C>T (p.Arg49Cys) rs148651921 0.00231
NM_000282.4(PCCA):c.1257G>A (p.Gln419=) rs147839487 0.00201
NM_000282.4(PCCA):c.1284+16G>A rs113610934 0.00169
NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys) rs112237881 0.00159
NM_000282.4(PCCA):c.2172C>T (p.Leu724=) rs150352833 0.00096
NM_000282.4(PCCA):c.2040+11dup rs779884567 0.00087
NM_000282.4(PCCA):c.1896A>G (p.Thr632=) rs61760965 0.00071
NM_000282.4(PCCA):c.870C>T (p.Cys290=) rs141174380 0.00060
NM_000282.4(PCCA):c.1002C>T (p.Thr334=) rs150106872 0.00044
NM_000282.4(PCCA):c.2055A>G (p.Gln685=) rs147568036 0.00036
NM_000282.4(PCCA):c.2037C>T (p.Asp679=) rs146870931 0.00035
NM_000282.4(PCCA):c.606A>G (p.Ala202=) rs140082586 0.00026
NM_000282.4(PCCA):c.660C>T (p.Ala220=) rs145826296 0.00026
NM_000282.4(PCCA):c.415-10C>T rs376120578 0.00020
NM_000282.4(PCCA):c.1131T>G (p.Ala377=) rs754991015 0.00019
NM_000282.4(PCCA):c.328G>C (p.Val110Leu) rs150788587 0.00017
NM_000282.4(PCCA):c.231+16G>A rs562491059 0.00014
NM_000282.4(PCCA):c.914+10C>G rs774298513 0.00014
NM_000282.4(PCCA):c.24A>G (p.Thr8=) rs117397004 0.00013
NM_000282.4(PCCA):c.862A>C (p.Arg288=) rs121964957 0.00013
NM_000282.4(PCCA):c.300+20G>T rs371217257 0.00012
NM_000282.4(PCCA):c.1193G>C (p.Cys398Ser) rs149293297 0.00010
NM_000282.4(PCCA):c.2016C>T (p.Ala672=) rs773033856 0.00010
NM_000282.4(PCCA):c.2169G>A (p.Leu723=) rs371113202 0.00009
NM_000282.4(PCCA):c.232-20A>G rs376850891 0.00009
NM_000282.4(PCCA):c.1540+20T>C rs754203055 0.00008
NM_000282.4(PCCA):c.490A>G (p.Ile164Val) rs539693612 0.00008
NM_000282.4(PCCA):c.638-10C>T rs763390049 0.00008
NM_000282.4(PCCA):c.1350A>G (p.Ser450=) rs755614638 0.00006
NM_000282.4(PCCA):c.1515C>T (p.Ser505=) rs201162791 0.00006
NM_000282.4(PCCA):c.1713C>T (p.Thr571=) rs778536273 0.00006
NM_000282.4(PCCA):c.1900-15T>G rs769815745 0.00006
NM_000282.4(PCCA):c.483C>T (p.Val161=) rs370402818 0.00006
NM_000282.4(PCCA):c.716+19T>C rs201320992 0.00006
NM_000282.4(PCCA):c.945G>A (p.Ala315=) rs373115130 0.00005
NM_000282.4(PCCA):c.1176C>T (p.Asn392=) rs138597181 0.00004
NM_000282.4(PCCA):c.184-6C>T rs542777393 0.00004
NM_000282.4(PCCA):c.2025C>G (p.Val675=) rs891946343 0.00004
NM_000282.4(PCCA):c.2040+11T>C rs200641726 0.00004
NM_000282.4(PCCA):c.327T>C (p.Ala109=) rs764005205 0.00004
NM_000282.4(PCCA):c.525C>T (p.Gly175=) rs151168308 0.00004
NM_000282.4(PCCA):c.645T>G (p.Pro215=) rs751840442 0.00004
NM_000282.4(PCCA):c.768T>C (p.Asp256=) rs1239656926 0.00004
NM_000282.4(PCCA):c.819+9A>G rs372739944 0.00004
NM_000282.4(PCCA):c.825A>G (p.Leu275=) rs376560248 0.00004
NM_000282.4(PCCA):c.1576T>C (p.Leu526=) rs564315582 0.00003
NM_000282.4(PCCA):c.1929C>T (p.Ala643=) rs772945583 0.00003
NM_000282.4(PCCA):c.33G>T (p.Leu11=) rs922002208 0.00003
NM_000282.4(PCCA):c.414+19A>G rs531469612 0.00003
NM_000282.4(PCCA):c.415-9A>G rs1057520932 0.00003
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181 0.00003
NM_000282.4(PCCA):c.915-18A>T rs780272314 0.00003
NM_000282.4(PCCA):c.1285-4C>T rs372262089 0.00002
NM_000282.4(PCCA):c.1540+11A>G rs374671328 0.00002
NM_000282.4(PCCA):c.1693T>C (p.Leu565=) rs767365284 0.00002
NM_000282.4(PCCA):c.1747-8dup rs753595587 0.00002
NM_000282.4(PCCA):c.183+18A>G rs746021444 0.00002
NM_000282.4(PCCA):c.1988G>A (p.Arg663His) rs780042764 0.00002
NM_000282.4(PCCA):c.2112T>C (p.Thr704=) rs765451633 0.00002
NM_000282.4(PCCA):c.318G>A (p.Ala106=) rs752769607 0.00002
NM_000282.4(PCCA):c.469-6C>T rs1411689584 0.00002
NM_000282.4(PCCA):c.638-5G>A rs764316702 0.00002
NM_000282.4(PCCA):c.105+16G>A rs2046038909 0.00001
NM_000282.4(PCCA):c.106-10T>C rs770940740 0.00001
NM_000282.4(PCCA):c.1065+10A>G rs1428223017 0.00001
NM_000282.4(PCCA):c.1065+12T>A rs1013549378 0.00001
NM_000282.4(PCCA):c.1065+15T>C rs762540382 0.00001
NM_000282.4(PCCA):c.1066-13C>T rs372186963 0.00001
NM_000282.4(PCCA):c.1071G>A (p.Glu357=) rs761295534 0.00001
NM_000282.4(PCCA):c.1089C>T (p.Cys363=) rs766934571 0.00001
NM_000282.4(PCCA):c.1269G>A (p.Pro423=) rs778642206 0.00001
NM_000282.4(PCCA):c.1284+17T>G rs531058073 0.00001
NM_000282.4(PCCA):c.1285-10T>C rs1186262441 0.00001
NM_000282.4(PCCA):c.1285-15C>T rs779554504 0.00001
NM_000282.4(PCCA):c.1285-20T>C rs1227568974 0.00001
NM_000282.4(PCCA):c.1285-5C>T rs773331326 0.00001
NM_000282.4(PCCA):c.12C>T (p.Phe4=) rs759257021 0.00001
NM_000282.4(PCCA):c.1326C>T (p.Ser442=) rs934310912 0.00001
NM_000282.4(PCCA):c.1353+16C>T rs573543059 0.00001
NM_000282.4(PCCA):c.1353+18A>G rs369105635 0.00001
NM_000282.4(PCCA):c.1354-10T>C rs750041912 0.00001
NM_000282.4(PCCA):c.1437A>G (p.Thr479=) rs1224037636 0.00001
NM_000282.4(PCCA):c.1518T>C (p.Asp506=) rs1214787896 0.00001
NM_000282.4(PCCA):c.1540+15A>C rs372830595 0.00001
NM_000282.4(PCCA):c.1541-15A>G rs748759552 0.00001
NM_000282.4(PCCA):c.1659A>G (p.Lys553=) rs764395477 0.00001
NM_000282.4(PCCA):c.1764G>A (p.Ser588=) rs772158996 0.00001
NM_000282.4(PCCA):c.1785G>A (p.Thr595=) rs766312551 0.00001
NM_000282.4(PCCA):c.1800G>A (p.Ser600=) rs761681712 0.00001
NM_000282.4(PCCA):c.180A>G (p.Glu60=) rs1003935202 0.00001
NM_000282.4(PCCA):c.1818C>T (p.Ser606=) rs763647197 0.00001
NM_000282.4(PCCA):c.1824T>C (p.Asp608=) rs1008553303 0.00001
NM_000282.4(PCCA):c.184-5T>C rs780230606 0.00001
NM_000282.4(PCCA):c.1899+7A>G rs950344042 0.00001
NM_000282.4(PCCA):c.1995G>A (p.Pro665=) rs1357780167 0.00001
NM_000282.4(PCCA):c.2001C>T (p.Pro667=) rs778845861 0.00001
NM_000282.4(PCCA):c.2010G>A (p.Val670=) rs1343608733 0.00001
NM_000282.4(PCCA):c.2118+10T>C rs1318351775 0.00001
NM_000282.4(PCCA):c.2119-5T>G rs752895575 0.00001
NM_000282.4(PCCA):c.2136T>C (p.Cys712=) rs781085655 0.00001
NM_000282.4(PCCA):c.231+8G>A rs199996461 0.00001
NM_000282.4(PCCA):c.30G>T (p.Pro10=) rs1206173421 0.00001
NM_000282.4(PCCA):c.405G>A (p.Arg135=) rs996873957 0.00001
NM_000282.4(PCCA):c.414+7C>G rs1051098122 0.00001
NM_000282.4(PCCA):c.432A>G (p.Gly144=) rs768756825 0.00001
NM_000282.4(PCCA):c.453A>G (p.Glu151=) rs897110640 0.00001
NM_000282.4(PCCA):c.54G>A (p.Gly18=) rs1373903905 0.00001
NM_000282.4(PCCA):c.570T>C (p.Asn190=) rs747026505 0.00001
NM_000282.4(PCCA):c.601-13C>T rs1367838556 0.00001
NM_000282.4(PCCA):c.637+18C>A rs758676556 0.00001
NM_000282.4(PCCA):c.717-8T>C rs1367148068 0.00001
NM_000282.4(PCCA):c.762C>T (p.Gly254=) rs758211858 0.00001
NM_000282.4(PCCA):c.819+19C>G rs1566819775 0.00001
NM_000282.4(PCCA):c.819+20T>C rs759539188 0.00001
NM_000282.4(PCCA):c.849A>G (p.Leu283=) rs1357373616 0.00001
NM_000282.4(PCCA):c.858T>C (p.Asn286=) rs778427348 0.00001
NM_000282.4(PCCA):c.864A>G (p.Arg288=) rs771222501 0.00001
NM_000282.4(PCCA):c.987T>C (p.Tyr329=) rs778986379 0.00001
NM_000282.4(PCCA):c.1005G>A (p.Val335=)
NM_000282.4(PCCA):c.1020C>T (p.Asp340=) rs2152588978
NM_000282.4(PCCA):c.1026G>A (p.Lys342=) rs2152589052
NM_000282.4(PCCA):c.1042T>C (p.Leu348=) rs2152589147
NM_000282.4(PCCA):c.1044G>A (p.Leu348=)
NM_000282.4(PCCA):c.105+11A>G
NM_000282.4(PCCA):c.105+8G>A
NM_000282.4(PCCA):c.105+9C>T
NM_000282.4(PCCA):c.106-11T>C
NM_000282.4(PCCA):c.106-12C>A
NM_000282.4(PCCA):c.106-12del rs2152250467
NM_000282.4(PCCA):c.106-17C>T
NM_000282.4(PCCA):c.106-5del
NM_000282.4(PCCA):c.106-9T>G
NM_000282.4(PCCA):c.1062C>A (p.Leu354=)
NM_000282.4(PCCA):c.1065+11C>T
NM_000282.4(PCCA):c.1065+18T>A rs1458093935
NM_000282.4(PCCA):c.1065+3AAC[2] rs1467232371
NM_000282.4(PCCA):c.1065+8C>T
NM_000282.4(PCCA):c.1066-10G>C rs1486164333
NM_000282.4(PCCA):c.1066-15A>G
NM_000282.4(PCCA):c.1066-4G>T
NM_000282.4(PCCA):c.1066-7C>G
NM_000282.4(PCCA):c.1066-8C>T
NM_000282.4(PCCA):c.1099C>T (p.Leu367=) rs1328083857
NM_000282.4(PCCA):c.1101G>A (p.Leu367=)
NM_000282.4(PCCA):c.1113G>A (p.Gln371=) rs2152683893
NM_000282.4(PCCA):c.1131T>A (p.Ala377=)
NM_000282.4(PCCA):c.114G>A (p.Leu38=)
NM_000282.4(PCCA):c.1155A>G (p.Lys385=)
NM_000282.4(PCCA):c.1164T>C (p.Asp388=) rs2152684012
NM_000282.4(PCCA):c.1179C>A (p.Gly393=) rs1430193054
NM_000282.4(PCCA):c.1197G>C (p.Arg399=)
NM_000282.4(PCCA):c.1209+10A>G rs764226410
NM_000282.4(PCCA):c.1209+13G>C
NM_000282.4(PCCA):c.1209+14T>G
NM_000282.4(PCCA):c.1209+18G>A
NM_000282.4(PCCA):c.1209+18G>T
NM_000282.4(PCCA):c.1209+8G>C
NM_000282.4(PCCA):c.1210-14C>T
NM_000282.4(PCCA):c.1210-15C>T
NM_000282.4(PCCA):c.1210-16T>C
NM_000282.4(PCCA):c.1210-19C>T
NM_000282.4(PCCA):c.1210-4T>C rs1415422969
NM_000282.4(PCCA):c.1210-9A>T
NM_000282.4(PCCA):c.1212C>T (p.Asp404=) rs2152686072
NM_000282.4(PCCA):c.1215C>T (p.Pro405=)
NM_000282.4(PCCA):c.1221G>A (p.Lys407=) rs2152686094
NM_000282.4(PCCA):c.1230T>C (p.Gly410=)
NM_000282.4(PCCA):c.1239T>G (p.Ser413=)
NM_000282.4(PCCA):c.1245G>A (p.Gly415=)
NM_000282.4(PCCA):c.1249T>C (p.Leu417=) rs2066177786
NM_000282.4(PCCA):c.1263A>G (p.Gln421=)
NM_000282.4(PCCA):c.126A>G (p.Arg42=) rs763916930
NM_000282.4(PCCA):c.1276C>T (p.Leu426=)
NM_000282.4(PCCA):c.1284+10T>G
NM_000282.4(PCCA):c.1284+10dup rs1309984509
NM_000282.4(PCCA):c.1284+14C>T
NM_000282.4(PCCA):c.1284+18_1284+34del
NM_000282.4(PCCA):c.1284+19A>G rs2066182757
NM_000282.4(PCCA):c.1284+7C>A
NM_000282.4(PCCA):c.1285-12_1285-8del rs2066517246
NM_000282.4(PCCA):c.1285-14T>C rs1374058554
NM_000282.4(PCCA):c.1285-7C>T rs748531448
NM_000282.4(PCCA):c.1285-7dup rs2066518077
NM_000282.4(PCCA):c.1285-9T>C
NM_000282.4(PCCA):c.129G>A (p.Gln43=)
NM_000282.4(PCCA):c.1311A>T (p.Pro437=) rs2152692646
NM_000282.4(PCCA):c.1353+10A>C rs1595236362
NM_000282.4(PCCA):c.1353+10A>G rs1595236362
NM_000282.4(PCCA):c.1353+10del
NM_000282.4(PCCA):c.1353+12T>G
NM_000282.4(PCCA):c.1353+9_1353+13del
NM_000282.4(PCCA):c.1354-13T>C
NM_000282.4(PCCA):c.1354-14T>G
NM_000282.4(PCCA):c.1354-17T>G
NM_000282.4(PCCA):c.1354-20_1354-17del
NM_000282.4(PCCA):c.1354-8G>C
NM_000282.4(PCCA):c.1356A>G (p.Leu452=)
NM_000282.4(PCCA):c.1362A>C (p.Thr454=) rs765949778
NM_000282.4(PCCA):c.1365T>C (p.Tyr455=) rs1225545034
NM_000282.4(PCCA):c.1374T>C (p.Asp458=)
NM_000282.4(PCCA):c.1392G>A (p.Lys464=) rs2152697440
NM_000282.4(PCCA):c.1407A>T (p.Ala469=) rs2152697468
NM_000282.4(PCCA):c.1408C>T (p.Leu470=) rs1566911871
NM_000282.4(PCCA):c.1416C>T (p.Asn472=)
NM_000282.4(PCCA):c.1419T>C (p.Tyr473=) rs1437714151
NM_000282.4(PCCA):c.141G>T (p.Val47=)
NM_000282.4(PCCA):c.1422T>C (p.Val474=) rs2066771458
NM_000282.4(PCCA):c.1429+10A>G
NM_000282.4(PCCA):c.1429+13A>T
NM_000282.4(PCCA):c.1429+13_1429+14del
NM_000282.4(PCCA):c.1429+15T>G
NM_000282.4(PCCA):c.1429+18C>T rs1445188783
NM_000282.4(PCCA):c.1429+20C>T rs2152697607
NM_000282.4(PCCA):c.1430-14C>A
NM_000282.4(PCCA):c.1430-15T>C
NM_000282.4(PCCA):c.1430-16A>G
NM_000282.4(PCCA):c.1430-17T>C
NM_000282.4(PCCA):c.1430-18A>T rs770776146
NM_000282.4(PCCA):c.1430-8A>T
NM_000282.4(PCCA):c.1446T>C (p.Ile482=)
NM_000282.4(PCCA):c.1449A>G (p.Ala483=) rs764611115
NM_000282.4(PCCA):c.1449A>T (p.Ala483=)
NM_000282.4(PCCA):c.1455T>C (p.Leu485=) rs752220238
NM_000282.4(PCCA):c.1458A>C (p.Arg486=) rs2152733872
NM_000282.4(PCCA):c.1476A>T (p.Ser492=)
NM_000282.4(PCCA):c.1482T>C (p.Phe494=)
NM_000282.4(PCCA):c.1491A>G (p.Gly497=) rs965243149
NM_000282.4(PCCA):c.1494C>T (p.Asp498=) rs977076579
NM_000282.4(PCCA):c.1506A>G (p.Lys502=)
NM_000282.4(PCCA):c.1512C>G (p.Leu504=)
NM_000282.4(PCCA):c.1512C>T (p.Leu504=)
NM_000282.4(PCCA):c.1524T>C (p.Tyr508=) rs2152734002
NM_000282.4(PCCA):c.1533C>T (p.Gly511=)
NM_000282.4(PCCA):c.153T>A (p.Leu51=)
NM_000282.4(PCCA):c.1540+13T>C rs2069419811
NM_000282.4(PCCA):c.1540+7A>G rs761046263
NM_000282.4(PCCA):c.1540+9G>A
NM_000282.4(PCCA):c.1540+9G>T
NM_000282.4(PCCA):c.1541-12_1541-9del rs763530693
NM_000282.4(PCCA):c.1541-14T>C
NM_000282.4(PCCA):c.1541-16G>A
NM_000282.4(PCCA):c.1541-17T>C
NM_000282.4(PCCA):c.1541-19G>A
NM_000282.4(PCCA):c.1541-19G>T
NM_000282.4(PCCA):c.1541-19_1541-12del
NM_000282.4(PCCA):c.1541-19del rs773809966
NM_000282.4(PCCA):c.1541-20_1541-9del
NM_000282.4(PCCA):c.1541-5C>T
NM_000282.4(PCCA):c.1541-6C>T
NM_000282.4(PCCA):c.156T>C (p.Gly52=)
NM_000282.4(PCCA):c.1575A>G (p.Leu525=)
NM_000282.4(PCCA):c.1590A>G (p.Ser530=) rs2152751916
NM_000282.4(PCCA):c.1593A>G (p.Ser531=) rs2152751931
NM_000282.4(PCCA):c.1594T>C (p.Leu532=) rs2152751935
NM_000282.4(PCCA):c.1599T>C (p.Phe533=) rs2152751951
NM_000282.4(PCCA):c.159A>C (p.Ser53=)
NM_000282.4(PCCA):c.159A>T (p.Ser53=)
NM_000282.4(PCCA):c.1620A>G (p.Ala540=) rs1566960733
NM_000282.4(PCCA):c.1643+11T>C rs2152752064
NM_000282.4(PCCA):c.1643+12C>A
NM_000282.4(PCCA):c.1643+15T>C
NM_000282.4(PCCA):c.1643+17A>G
NM_000282.4(PCCA):c.1643+8_1643+13del rs2152752048
NM_000282.4(PCCA):c.1643+9G>A
NM_000282.4(PCCA):c.1644-18C>T rs1431833092
NM_000282.4(PCCA):c.1644-7A>G
NM_000282.4(PCCA):c.1644-9C>T rs1425956784
NM_000282.4(PCCA):c.1650T>G (p.Pro550=)
NM_000282.4(PCCA):c.1651G>A (p.Val551Ile) rs61749895
NM_000282.4(PCCA):c.1665C>T (p.Asp555=) rs1461874924
NM_000282.4(PCCA):c.1671C>G (p.Ala557=) rs2075362375
NM_000282.4(PCCA):c.1680G>A (p.Glu560=)
NM_000282.4(PCCA):c.1695G>A (p.Leu565=) rs1595621243
NM_000282.4(PCCA):c.1713C>G (p.Thr571=)
NM_000282.4(PCCA):c.171T>C (p.Asp57=)
NM_000282.4(PCCA):c.1731T>C (p.Asn577=) rs2152811890
NM_000282.4(PCCA):c.1740G>A (p.Val580=) rs2152811913
NM_000282.4(PCCA):c.1746+12T>C
NM_000282.4(PCCA):c.1746+14_1746+17del
NM_000282.4(PCCA):c.1746+15T>C
NM_000282.4(PCCA):c.1746+17del
NM_000282.4(PCCA):c.1747-11T>C
NM_000282.4(PCCA):c.1747-12G>A
NM_000282.4(PCCA):c.1747-15T>G
NM_000282.4(PCCA):c.1747-18T>C
NM_000282.4(PCCA):c.1747-20C>T
NM_000282.4(PCCA):c.1747-6C>T
NM_000282.4(PCCA):c.1747-7A>G
NM_000282.4(PCCA):c.1761G>A (p.Gly587=)
NM_000282.4(PCCA):c.1773T>C (p.Asn591=) rs1595860527
NM_000282.4(PCCA):c.1791C>T (p.Asn597=) rs2079093623
NM_000282.4(PCCA):c.1800G>C (p.Ser600=) rs761681712
NM_000282.4(PCCA):c.1800G>T (p.Ser600=) rs761681712
NM_000282.4(PCCA):c.1803C>T (p.Pro601=)
NM_000282.4(PCCA):c.1804T>C (p.Leu602=)
NM_000282.4(PCCA):c.1806A>G (p.Leu602=) rs2152893970
NM_000282.4(PCCA):c.1807T>C (p.Leu603=) rs2079094668
NM_000282.4(PCCA):c.1809G>A (p.Leu603=)
NM_000282.4(PCCA):c.1812T>C (p.Ser604=) rs2152893989
NM_000282.4(PCCA):c.183+15G>T
NM_000282.4(PCCA):c.183+19T>C rs780105316
NM_000282.4(PCCA):c.183+7A>G rs369767655
NM_000282.4(PCCA):c.183+9T>G rs2152251053
NM_000282.4(PCCA):c.1830T>C (p.Thr610=)
NM_000282.4(PCCA):c.1830T>G (p.Thr610=)
NM_000282.4(PCCA):c.184-10C>G
NM_000282.4(PCCA):c.184-10C>T rs2048349934
NM_000282.4(PCCA):c.184-15T>G rs1257547578
NM_000282.4(PCCA):c.184-19G>A
NM_000282.4(PCCA):c.184-9T>A
NM_000282.4(PCCA):c.184-9T>C
NM_000282.4(PCCA):c.1842C>G (p.Val614=)
NM_000282.4(PCCA):c.1842C>T (p.Val614=)
NM_000282.4(PCCA):c.1845+10G>T rs1456360150
NM_000282.4(PCCA):c.1845+12A>G
NM_000282.4(PCCA):c.1845+13A>G
NM_000282.4(PCCA):c.1845+20C>A
NM_000282.4(PCCA):c.1845+21del
NM_000282.4(PCCA):c.1845+8T>C
NM_000282.4(PCCA):c.1845+9T>C
NM_000282.4(PCCA):c.1846-10dup
NM_000282.4(PCCA):c.1846-13G>T
NM_000282.4(PCCA):c.1846-15_1846-14del
NM_000282.4(PCCA):c.1846-20A>G
NM_000282.4(PCCA):c.1846-6T>C
NM_000282.4(PCCA):c.1846-9_1846-6del
NM_000282.4(PCCA):c.1851T>G (p.Leu617=)
NM_000282.4(PCCA):c.1863A>C (p.Ala621=) rs937736837
NM_000282.4(PCCA):c.1872C>T (p.Asn624=)
NM_000282.4(PCCA):c.1884G>A (p.Gln628=) rs552141237
NM_000282.4(PCCA):c.1890T>C (p.Leu630=)
NM_000282.4(PCCA):c.1893T>C (p.Gly631=) rs2152925693
NM_000282.4(PCCA):c.1896A>C (p.Thr632=) rs61760965
NM_000282.4(PCCA):c.1899+12A>G
NM_000282.4(PCCA):c.1899+14C>T
NM_000282.4(PCCA):c.1899+15A>G rs1595942350
NM_000282.4(PCCA):c.1899+18C>A
NM_000282.4(PCCA):c.1899+21_1899+24del
NM_000282.4(PCCA):c.18C>G (p.Val6=)
NM_000282.4(PCCA):c.18C>T (p.Val6=) rs752423629
NM_000282.4(PCCA):c.1900-14G>T
NM_000282.4(PCCA):c.1900-15T>C
NM_000282.4(PCCA):c.1900-20G>T
NM_000282.4(PCCA):c.1900-7C>T
NM_000282.4(PCCA):c.1900-8C>T rs1480940423
NM_000282.4(PCCA):c.1905G>A (p.Lys635=)
NM_000282.4(PCCA):c.1911T>C (p.Asn637=)
NM_000282.4(PCCA):c.1915T>C (p.Leu639=) rs2152998157
NM_000282.4(PCCA):c.1920C>T (p.Thr640=) rs2152998162
NM_000282.4(PCCA):c.1926T>G (p.Leu642=)
NM_000282.4(PCCA):c.1936T>C (p.Leu646=)
NM_000282.4(PCCA):c.1941C>T (p.Asn647=)
NM_000282.4(PCCA):c.1947T>C (p.Phe649=)
NM_000282.4(PCCA):c.1951C>T (p.Leu651=) rs1449490636
NM_000282.4(PCCA):c.1953G>A (p.Leu651=) rs765771203
NM_000282.4(PCCA):c.1953G>T (p.Leu651=) rs765771203
NM_000282.4(PCCA):c.1962G>A (p.Val654=) rs2086766593
NM_000282.4(PCCA):c.1962G>T (p.Val654=) rs2086766593
NM_000282.4(PCCA):c.1971C>T (p.Asp657=)
NM_000282.4(PCCA):c.1980T>C (p.Ser660=) rs751989323
NM_000282.4(PCCA):c.1986G>A (p.Leu662=)
NM_000282.4(PCCA):c.1992C>T (p.Ser664=)
NM_000282.4(PCCA):c.1995G>C (p.Pro665=)
NM_000282.4(PCCA):c.2007G>C (p.Val669=) rs2152998254
NM_000282.4(PCCA):c.2013G>A (p.Val671=)
NM_000282.4(PCCA):c.2013G>T (p.Val671=)
NM_000282.4(PCCA):c.2016C>A (p.Ala672=) rs773033856
NM_000282.4(PCCA):c.2016C>G (p.Ala672=)
NM_000282.4(PCCA):c.2017G>C (p.Val673Leu) rs142646074
NM_000282.4(PCCA):c.201T>C (p.Leu67=)
NM_000282.4(PCCA):c.2031T>C (p.Pro677=) rs2152998273
NM_000282.4(PCCA):c.2040+12G>C
NM_000282.4(PCCA):c.2040+12G>T
NM_000282.4(PCCA):c.2040+15T>C
NM_000282.4(PCCA):c.2040+16G>C rs2152998313
NM_000282.4(PCCA):c.2040+17TC[4] rs1312258807
NM_000282.4(PCCA):c.2040+18C>G
NM_000282.4(PCCA):c.2040+20C>G
NM_000282.4(PCCA):c.2040+7G>A
NM_000282.4(PCCA):c.2040+8C>T
NM_000282.4(PCCA):c.2040+9TG[3] rs751014655
NM_000282.4(PCCA):c.2040+9TG[5] rs751014655
NM_000282.4(PCCA):c.2041-16C>T
NM_000282.4(PCCA):c.2041-8T>C rs2153008293
NM_000282.4(PCCA):c.2043A>G (p.Val681=) rs745390236
NM_000282.4(PCCA):c.207T>C (p.Ala69=) rs2152278538
NM_000282.4(PCCA):c.2094T>C (p.Ser698=) rs2153008347
NM_000282.4(PCCA):c.2100A>G (p.Thr700=) rs141926030
NM_000282.4(PCCA):c.2109A>G (p.Lys703=)
NM_000282.4(PCCA):c.210T>C (p.Asn70=)
NM_000282.4(PCCA):c.2118+12_2118+19dup
NM_000282.4(PCCA):c.2118+18C>T
NM_000282.4(PCCA):c.2118+7C>T
NM_000282.4(PCCA):c.2119-17A>G
NM_000282.4(PCCA):c.2119-19G>A rs1162118685
NM_000282.4(PCCA):c.2119-4C>T
NM_000282.4(PCCA):c.2124A>G (p.Lys708=) rs2153010943
NM_000282.4(PCCA):c.2130G>A (p.Val710=)
NM_000282.4(PCCA):c.2133C>T (p.His711=)
NM_000282.4(PCCA):c.2163G>C (p.Gly721=)
NM_000282.4(PCCA):c.2167C>T (p.Leu723=) rs748808267
NM_000282.4(PCCA):c.2181G>A (p.Leu727=)
NM_000282.4(PCCA):c.225A>C (p.Ala75=) rs1243423868
NM_000282.4(PCCA):c.225A>G (p.Ala75=)
NM_000282.4(PCCA):c.231+10A>G
NM_000282.4(PCCA):c.231+18C>A
NM_000282.4(PCCA):c.231+19T>G
NM_000282.4(PCCA):c.231+9_231+13del rs759203419
NM_000282.4(PCCA):c.232-13T>C
NM_000282.4(PCCA):c.232-17A>C
NM_000282.4(PCCA):c.232-18T>A
NM_000282.4(PCCA):c.232-18T>C
NM_000282.4(PCCA):c.232-6A>T rs527249599
NM_000282.4(PCCA):c.243T>A (p.Thr81=)
NM_000282.4(PCCA):c.243T>C (p.Thr81=) rs2152278998
NM_000282.4(PCCA):c.24A>T (p.Thr8=) rs117397004
NM_000282.4(PCCA):c.267A>G (p.Thr89=) rs2152279061
NM_000282.4(PCCA):c.273C>T (p.Ala91=) rs2152279075
NM_000282.4(PCCA):c.279C>T (p.His93=) rs776253297
NM_000282.4(PCCA):c.27A>G (p.Ala9=)
NM_000282.4(PCCA):c.300+15G>A
NM_000282.4(PCCA):c.300+18T>C
NM_000282.4(PCCA):c.300+7A>G rs1241971231
NM_000282.4(PCCA):c.300+8T>G
NM_000282.4(PCCA):c.300+9A>G rs2152279171
NM_000282.4(PCCA):c.301-10G>A
NM_000282.4(PCCA):c.301-11T>C
NM_000282.4(PCCA):c.301-18A>G
NM_000282.4(PCCA):c.301-5C>T rs2152382806
NM_000282.4(PCCA):c.306T>C (p.His102=) rs1388078702
NM_000282.4(PCCA):c.30G>A (p.Pro10=)
NM_000282.4(PCCA):c.30G>C (p.Pro10=)
NM_000282.4(PCCA):c.312A>G (p.Lys104=)
NM_000282.4(PCCA):c.31C>T (p.Leu11=)
NM_000282.4(PCCA):c.33G>A (p.Leu11=) rs922002208
NM_000282.4(PCCA):c.342A>G (p.Pro114=)
NM_000282.4(PCCA):c.366C>T (p.Leu122=) rs1228885494
NM_000282.4(PCCA):c.375T>C (p.Asp125=)
NM_000282.4(PCCA):c.378C>T (p.Ala126=) rs2152382977
NM_000282.4(PCCA):c.396G>A (p.Lys132=) rs2152383018
NM_000282.4(PCCA):c.402C>T (p.Thr134=)
NM_000282.4(PCCA):c.414+11A>G
NM_000282.4(PCCA):c.414+15A>C
NM_000282.4(PCCA):c.414+15A>G rs1016791209
NM_000282.4(PCCA):c.414+19A>T
NM_000282.4(PCCA):c.415-10C>A
NM_000282.4(PCCA):c.415-13T>C
NM_000282.4(PCCA):c.415-4T>C rs2152387053
NM_000282.4(PCCA):c.429T>C (p.Tyr143=)
NM_000282.4(PCCA):c.42C>G (p.Ala14=) rs200714802
NM_000282.4(PCCA):c.42C>T (p.Ala14=) rs200714802
NM_000282.4(PCCA):c.441A>G (p.Ser147=)
NM_000282.4(PCCA):c.459C>T (p.Ala153=) rs1358991180
NM_000282.4(PCCA):c.45A>G (p.Gly15=)
NM_000282.4(PCCA):c.468+10T>C
NM_000282.4(PCCA):c.468+10T>G rs2152387181
NM_000282.4(PCCA):c.468+15A>G
NM_000282.4(PCCA):c.468+18C>G
NM_000282.4(PCCA):c.468+18C>T
NM_000282.4(PCCA):c.468+19A>G
NM_000282.4(PCCA):c.468+8G>A rs2152387172
NM_000282.4(PCCA):c.468+8_468+10dup
NM_000282.4(PCCA):c.469-4A>G
NM_000282.4(PCCA):c.469-5C>T
NM_000282.4(PCCA):c.469-5dup
NM_000282.4(PCCA):c.469-8C>A
NM_000282.4(PCCA):c.474A>G (p.Ala158=)
NM_000282.4(PCCA):c.483C>G (p.Val161=)
NM_000282.4(PCCA):c.48G>C (p.Arg16=)
NM_000282.4(PCCA):c.498T>C (p.Pro166=)
NM_000282.4(PCCA):c.519C>A (p.Ala173=)
NM_000282.4(PCCA):c.564G>A (p.Glu188=) rs1594744855
NM_000282.4(PCCA):c.567T>C (p.Val189=) rs773301690
NM_000282.4(PCCA):c.576C>A (p.Ile192=)
NM_000282.4(PCCA):c.579T>G (p.Pro193=) rs2152478869
NM_000282.4(PCCA):c.597C>G (p.Val199=)
NM_000282.4(PCCA):c.600+15T>C
NM_000282.4(PCCA):c.600+16A>C
NM_000282.4(PCCA):c.600+17A>C
NM_000282.4(PCCA):c.601-10G>A rs903647084
NM_000282.4(PCCA):c.601-12C>T
NM_000282.4(PCCA):c.601-18C>T
NM_000282.4(PCCA):c.601-4A>G
NM_000282.4(PCCA):c.601-6T>C
NM_000282.4(PCCA):c.601-9C>T rs775469263
NM_000282.4(PCCA):c.603T>C (p.Asp201=) rs773868428
NM_000282.4(PCCA):c.612A>G (p.Glu204=) rs1594860188
NM_000282.4(PCCA):c.630G>A (p.Arg210=) rs2152522233
NM_000282.4(PCCA):c.632A>G (p.Glu211Gly)
NM_000282.4(PCCA):c.637+18C>T rs758676556
NM_000282.4(PCCA):c.637+9T>G rs2152522254
NM_000282.4(PCCA):c.638-5G>T rs764316702
NM_000282.4(PCCA):c.638-7C>T rs2152558252
NM_000282.4(PCCA):c.63G>A (p.Pro21=) rs2152189800
NM_000282.4(PCCA):c.645T>A (p.Pro215=) rs751840442
NM_000282.4(PCCA):c.66G>A (p.Pro22=)
NM_000282.4(PCCA):c.66G>C (p.Pro22=)
NM_000282.4(PCCA):c.66G>T (p.Pro22=)
NM_000282.4(PCCA):c.696T>G (p.Ala232=) rs2152558384
NM_000282.4(PCCA):c.69G>A (p.Gln23=) rs1593997093
NM_000282.4(PCCA):c.6G>A (p.Ala2=) rs958365590
NM_000282.4(PCCA):c.6G>T (p.Ala2=)
NM_000282.4(PCCA):c.716+16A>G
NM_000282.4(PCCA):c.716+20A>G
NM_000282.4(PCCA):c.717-15T>G
NM_000282.4(PCCA):c.717-19T>G
NM_000282.4(PCCA):c.717-5dup rs2062610539
NM_000282.4(PCCA):c.717-8T>G rs1367148068
NM_000282.4(PCCA):c.72G>A (p.Gln24=) rs2152189926
NM_000282.4(PCCA):c.735A>G (p.Ser245=)
NM_000282.4(PCCA):c.73C>T (p.Leu25=)
NM_000282.4(PCCA):c.747T>C (p.Ala249=) rs1594992384
NM_000282.4(PCCA):c.756T>C (p.Ser252=) rs2152564931
NM_000282.4(PCCA):c.75G>T (p.Leu25=) rs1295789610
NM_000282.4(PCCA):c.762C>A (p.Gly254=) rs758211858
NM_000282.4(PCCA):c.771A>G (p.Arg257=) rs1483857199
NM_000282.4(PCCA):c.774A>C (p.Leu258=)
NM_000282.4(PCCA):c.774A>G (p.Leu258=)
NM_000282.4(PCCA):c.775C>T (p.Leu259=)
NM_000282.4(PCCA):c.780A>T (p.Ile260=) rs1451573276
NM_000282.4(PCCA):c.783A>G (p.Glu261=) rs917366865
NM_000282.4(PCCA):c.79C>T (p.Leu27=) rs2152189967
NM_000282.4(PCCA):c.801T>C (p.Pro267=) rs2152564990
NM_000282.4(PCCA):c.807T>C (p.His269=) rs2152565006
NM_000282.4(PCCA):c.819+10T>C rs1280822128
NM_000282.4(PCCA):c.819+13_819+35del
NM_000282.4(PCCA):c.819+16A>T rs377356398
NM_000282.4(PCCA):c.819+19C>T
NM_000282.4(PCCA):c.819+7A>G
NM_000282.4(PCCA):c.819+8C>T
NM_000282.4(PCCA):c.81G>A (p.Leu27=) rs2152189973
NM_000282.4(PCCA):c.820-18A>G
NM_000282.4(PCCA):c.820-8T>C
NM_000282.4(PCCA):c.820-9C>T rs1371297395
NM_000282.4(PCCA):c.847T>C (p.Leu283=) rs911990330
NM_000282.4(PCCA):c.867G>A (p.Glu289=)
NM_000282.4(PCCA):c.873A>C (p.Ser291=)
NM_000282.4(PCCA):c.87G>C (p.Ala29=)
NM_000282.4(PCCA):c.880A>C (p.Arg294=) rs2063109467
NM_000282.4(PCCA):c.897G>C (p.Val299=) rs770113371
NM_000282.4(PCCA):c.900G>A (p.Val300=) rs2152572391
NM_000282.4(PCCA):c.906A>G (p.Glu302=)
NM_000282.4(PCCA):c.90G>C (p.Ala30=) rs776449255
NM_000282.4(PCCA):c.90G>T (p.Ala30=) rs776449255
NM_000282.4(PCCA):c.912A>G (p.Pro304=) rs2063111759
NM_000282.4(PCCA):c.914+14G>A
NM_000282.4(PCCA):c.914+14G>C rs2152572441
NM_000282.4(PCCA):c.914+16A>T
NM_000282.4(PCCA):c.914+17A>G
NM_000282.4(PCCA):c.914+17A>T
NM_000282.4(PCCA):c.914+18_914+19inv
NM_000282.4(PCCA):c.914+8T>A rs543352333
NM_000282.4(PCCA):c.914+9C>T
NM_000282.4(PCCA):c.915-13T>G
NM_000282.4(PCCA):c.915-15T>G
NM_000282.4(PCCA):c.915-18A>G
NM_000282.4(PCCA):c.915-18del
NM_000282.4(PCCA):c.915-4G>A
NM_000282.4(PCCA):c.915-5T>C rs2152587983
NM_000282.4(PCCA):c.915-6A>G rs2063416816
NM_000282.4(PCCA):c.915-6A>T rs2063416816
NM_000282.4(PCCA):c.91C>T (p.Leu31=) rs2152190063
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly) rs146927771
NM_000282.4(PCCA):c.930G>C (p.Ala310=) rs377248400
NM_000282.4(PCCA):c.939A>G (p.Arg313=)
NM_000282.4(PCCA):c.93G>A (p.Leu31=)
NM_000282.4(PCCA):c.940A>C (p.Arg314=) rs2152588262
NM_000282.4(PCCA):c.942A>G (p.Arg314=) rs2152588280
NM_000282.4(PCCA):c.94C>A (p.Arg32=) rs2152190089
NM_000282.4(PCCA):c.954A>G (p.Glu318=) rs2152588516
NM_000282.4(PCCA):c.957A>G (p.Gln319=) rs756496977
NM_000282.4(PCCA):c.960T>C (p.Ala320=)
NM_000282.4(PCCA):c.966T>G (p.Ala322=) rs2152588623
NM_000282.4(PCCA):c.972C>G (p.Ala324=) rs2063425317
NM_000282.4(PCCA):c.972C>T (p.Ala324=) rs2063425317
NM_000282.4(PCCA):c.978A>G (p.Ala326=)
NM_000282.4(PCCA):c.981A>G (p.Val327=) rs2063425788
NM_000282.4(PCCA):c.996T>C (p.Ala332=) rs2152588809
NM_000282.4(PCCA):c.996T>G (p.Ala332=)
NM_000282.4(PCCA):c.999G>A (p.Gly333=) rs2063427075
NM_000282.4(PCCA):c.99C>G (p.Thr33=)
NM_000282.4(PCCA):c.99C>T (p.Thr33=)
NM_000282.4(PCCA):c.9G>A (p.Gly3=)
NM_000282.4(PCCA):c.9G>C (p.Gly3=) rs547209141

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.