ClinVar Miner

List of variants in gene PCARE

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 570
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HGVS dbSNP
NC_000002.11:g.29287932_29287933insGCC
NM_001029883.3(PCARE):c.*1050C>T rs36112528
NM_001029883.3(PCARE):c.*1065A>G rs17007529
NM_001029883.3(PCARE):c.*1140T>C
NM_001029883.3(PCARE):c.*1145G>A
NM_001029883.3(PCARE):c.*1157G>A rs369999271
NM_001029883.3(PCARE):c.*1199G>C rs74855521
NM_001029883.3(PCARE):c.*1224C>G rs886055916
NM_001029883.3(PCARE):c.*1226A>G rs59633688
NM_001029883.3(PCARE):c.*1259C>T rs558252908
NM_001029883.3(PCARE):c.*1278C>A rs886055915
NM_001029883.3(PCARE):c.*1296T>G rs537457852
NM_001029883.3(PCARE):c.*1371G>A rs57505815
NM_001029883.3(PCARE):c.*1425C>T rs114274497
NM_001029883.3(PCARE):c.*1517G>A rs886055914
NM_001029883.3(PCARE):c.*1525C>T rs149247863
NM_001029883.3(PCARE):c.*1542A>G rs719691
NM_001029883.3(PCARE):c.*1601G>A rs72861029
NM_001029883.3(PCARE):c.*1663C>T rs958584
NM_001029883.3(PCARE):c.*1666C>T
NM_001029883.3(PCARE):c.*1686C>A
NM_001029883.3(PCARE):c.*1703A>G
NM_001029883.3(PCARE):c.*1704A>G rs72788189
NM_001029883.3(PCARE):c.*1714G>A
NM_001029883.3(PCARE):c.*1742G>C
NM_001029883.3(PCARE):c.*1746G>A rs577941529
NM_001029883.3(PCARE):c.*1748C>T
NM_001029883.3(PCARE):c.*1785C>T
NM_001029883.3(PCARE):c.*1798C>T rs115788507
NM_001029883.3(PCARE):c.*1844C>G rs146988491
NM_001029883.3(PCARE):c.*1865G>A rs886055913
NM_001029883.3(PCARE):c.*1912T>A rs72861027
NM_001029883.3(PCARE):c.*1930C>T
NM_001029883.3(PCARE):c.*1933G>C
NM_001029883.3(PCARE):c.*1969G>A
NM_001029883.3(PCARE):c.*2022G>A rs4464231
NM_001029883.3(PCARE):c.*204G>T
NM_001029883.3(PCARE):c.*2066A>G
NM_001029883.3(PCARE):c.*2104T>C rs1562391
NM_001029883.3(PCARE):c.*2160G>A rs1562392
NM_001029883.3(PCARE):c.*2207C>T
NM_001029883.3(PCARE):c.*2209G>A rs77448535
NM_001029883.3(PCARE):c.*2279G>A rs1562393
NM_001029883.3(PCARE):c.*227T>C rs536483762
NM_001029883.3(PCARE):c.*2293G>C rs1562394
NM_001029883.3(PCARE):c.*2300C>T rs115478100
NM_001029883.3(PCARE):c.*2383G>A
NM_001029883.3(PCARE):c.*2441C>A
NM_001029883.3(PCARE):c.*2442G>A rs543543846
NM_001029883.3(PCARE):c.*2481G>A rs17692899
NM_001029883.3(PCARE):c.*2512G>A
NM_001029883.3(PCARE):c.*2525G>A rs7607027
NM_001029883.3(PCARE):c.*2546G>A
NM_001029883.3(PCARE):c.*2558C>T rs545805260
NM_001029883.3(PCARE):c.*2562G>C rs188247308
NM_001029883.3(PCARE):c.*2579C>A rs140084891
NM_001029883.3(PCARE):c.*2584C>T rs79961309
NM_001029883.3(PCARE):c.*2585A>G rs7570356
NM_001029883.3(PCARE):c.*2595A>G rs780734864
NM_001029883.3(PCARE):c.*2629G>A
NM_001029883.3(PCARE):c.*2649C>T
NM_001029883.3(PCARE):c.*2652T>C
NM_001029883.3(PCARE):c.*2670T>C rs10185075
NM_001029883.3(PCARE):c.*2754A>G rs10187620
NM_001029883.3(PCARE):c.*2763A>G rs886055912
NM_001029883.3(PCARE):c.*27G>A rs10182566
NM_001029883.3(PCARE):c.*283G>A rs189553973
NM_001029883.3(PCARE):c.*286G>T rs78759931
NM_001029883.3(PCARE):c.*291G>C rs886055919
NM_001029883.3(PCARE):c.*2929T>C rs11683284
NM_001029883.3(PCARE):c.*3008G>T
NM_001029883.3(PCARE):c.*3036C>T
NM_001029883.3(PCARE):c.*3037G>A rs569687522
NM_001029883.3(PCARE):c.*3040C>T rs747798677
NM_001029883.3(PCARE):c.*3041A>G
NM_001029883.3(PCARE):c.*3050C>T rs188267834
NM_001029883.3(PCARE):c.*3057C>T rs75634215
NM_001029883.3(PCARE):c.*3063A>G
NM_001029883.3(PCARE):c.*34C>A rs745626992
NM_001029883.3(PCARE):c.*395T>G
NM_001029883.3(PCARE):c.*399C>T rs571534411
NM_001029883.3(PCARE):c.*400G>A
NM_001029883.3(PCARE):c.*412C>T
NM_001029883.3(PCARE):c.*413G>A
NM_001029883.3(PCARE):c.*474T>C
NM_001029883.3(PCARE):c.*506T>C rs10194257
NM_001029883.3(PCARE):c.*506_*508delinsCTG rs71420214
NM_001029883.3(PCARE):c.*508A>G rs10196859
NM_001029883.3(PCARE):c.*543C>T rs10495767
NM_001029883.3(PCARE):c.*599G>A rs886055918
NM_001029883.3(PCARE):c.*658G>C rs143745034
NM_001029883.3(PCARE):c.*686A>T rs116550481
NM_001029883.3(PCARE):c.*778A>T
NM_001029883.3(PCARE):c.*830C>A rs13016696
NM_001029883.3(PCARE):c.*857C>T rs538810981
NM_001029883.3(PCARE):c.*874G>A rs886055917
NM_001029883.3(PCARE):c.*903A>G rs146133810
NM_001029883.3(PCARE):c.*929G>A
NM_001029883.3(PCARE):c.*953G>A
NM_001029883.3(PCARE):c.*982C>T rs76693332
NM_001029883.3(PCARE):c.*983G>A rs74315958
NM_001029883.3(PCARE):c.*988C>G rs563291434
NM_001029883.3(PCARE):c.*997G>A
NM_001029883.3(PCARE):c.1008C>T (p.Gly336=)
NM_001029883.3(PCARE):c.1009G>A (p.Asp337Asn)
NM_001029883.3(PCARE):c.1024G>A (p.Gly342Ser) rs748520550
NM_001029883.3(PCARE):c.102C>T (p.Gly34=) rs149915190
NM_001029883.3(PCARE):c.1038C>T (p.Cys346=)
NM_001029883.3(PCARE):c.103G>A (p.Gly35Arg)
NM_001029883.3(PCARE):c.1040_1041del (p.Cys346_Ser347insTer)
NM_001029883.3(PCARE):c.1044G>A (p.Glu348=)
NM_001029883.3(PCARE):c.1065C>G (p.Asp355Glu)
NM_001029883.3(PCARE):c.1083G>A (p.Ser361=)
NM_001029883.3(PCARE):c.1088A>G (p.Asp363Gly)
NM_001029883.3(PCARE):c.1094_1102del (p.Leu365_Lys367del)
NM_001029883.3(PCARE):c.1114G>A (p.Asp372Asn) rs201284350
NM_001029883.3(PCARE):c.111A>G (p.Glu37=)
NM_001029883.3(PCARE):c.1121C>G (p.Ala374Gly)
NM_001029883.3(PCARE):c.1137A>G (p.Glu379=) rs755968619
NM_001029883.3(PCARE):c.1140G>T (p.Trp380Cys)
NM_001029883.3(PCARE):c.1160A>C (p.His387Pro)
NM_001029883.3(PCARE):c.1180G>T (p.Gly394Ter)
NM_001029883.3(PCARE):c.1187C>T (p.Thr396Ile)
NM_001029883.3(PCARE):c.1191G>A (p.Trp397Ter) rs777103184
NM_001029883.3(PCARE):c.1215C>T (p.Gly405=) rs754808908
NM_001029883.3(PCARE):c.1219G>A (p.Gly407Ser)
NM_001029883.3(PCARE):c.121A>G (p.Ile41Val)
NM_001029883.3(PCARE):c.1228C>T (p.Gln410Ter) rs1572829010
NM_001029883.3(PCARE):c.1229del (p.Gln410fs)
NM_001029883.3(PCARE):c.122T>A (p.Ile41Asn)
NM_001029883.3(PCARE):c.1233C>G (p.Asp411Glu)
NM_001029883.3(PCARE):c.1245A>T (p.Ser415=)
NM_001029883.3(PCARE):c.1250C>A (p.Ala417Asp)
NM_001029883.3(PCARE):c.1262A>G (p.Lys421Arg) rs17007544
NM_001029883.3(PCARE):c.1273C>T (p.Arg425Ter)
NM_001029883.3(PCARE):c.1274G>A (p.Arg425Gln)
NM_001029883.3(PCARE):c.1285G>A (p.Glu429Lys)
NM_001029883.3(PCARE):c.1293G>A (p.Arg431=)
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser) rs200696965
NM_001029883.3(PCARE):c.1313C>G (p.Thr438Arg)
NM_001029883.3(PCARE):c.1316G>A (p.Ser439Asn)
NM_001029883.3(PCARE):c.1318C>G (p.Pro440Ala)
NM_001029883.3(PCARE):c.1360A>C (p.Thr454Pro)
NM_001029883.3(PCARE):c.1370A>T (p.Asp457Val)
NM_001029883.3(PCARE):c.1377del (p.Phe459fs)
NM_001029883.3(PCARE):c.1382T>C (p.Ile461Thr) rs377498611
NM_001029883.3(PCARE):c.1385G>A (p.Gly462Glu)
NM_001029883.3(PCARE):c.1387G>A (p.Val463Ile)
NM_001029883.3(PCARE):c.1387G>T (p.Val463Phe) rs199764925
NM_001029883.3(PCARE):c.1395G>A (p.Val465=)
NM_001029883.3(PCARE):c.1424C>A (p.Pro475Gln)
NM_001029883.3(PCARE):c.1432G>A (p.Ala478Thr)
NM_001029883.3(PCARE):c.1452C>T (p.Ser484=) rs13385188
NM_001029883.3(PCARE):c.1453G>A (p.Glu485Lys)
NM_001029883.3(PCARE):c.1465C>T (p.Pro489Ser)
NM_001029883.3(PCARE):c.1471G>A (p.Glu491Lys) rs528670230
NM_001029883.3(PCARE):c.1477G>C (p.Glu493Gln)
NM_001029883.3(PCARE):c.148T>C (p.Cys50Arg)
NM_001029883.3(PCARE):c.1492A>T (p.Ser498Cys)
NM_001029883.3(PCARE):c.1500G>A (p.Met500Ile) rs886055924
NM_001029883.3(PCARE):c.1516C>T (p.Gln506Ter)
NM_001029883.3(PCARE):c.1525A>G (p.Thr509Ala)
NM_001029883.3(PCARE):c.1525del (p.Thr509fs)
NM_001029883.3(PCARE):c.1541del (p.Pro514fs)
NM_001029883.3(PCARE):c.1545A>G (p.Gln515=)
NM_001029883.3(PCARE):c.1545dup (p.Ser516fs) rs1553354826
NM_001029883.3(PCARE):c.1550C>T (p.Ser517Leu)
NM_001029883.3(PCARE):c.156C>T (p.Asp52=)
NM_001029883.3(PCARE):c.157G>T (p.Ala53Ser)
NM_001029883.3(PCARE):c.1582C>A (p.Arg528Ser) rs80151896
NM_001029883.3(PCARE):c.1582C>T (p.Arg528Cys) rs80151896
NM_001029883.3(PCARE):c.1583G>C (p.Arg528Pro)
NM_001029883.3(PCARE):c.1599G>A (p.Arg533=) rs781286343
NM_001029883.3(PCARE):c.159T>C (p.Ala53=)
NM_001029883.3(PCARE):c.1601G>T (p.Ser534Ile)
NM_001029883.3(PCARE):c.1602C>T (p.Ser534=)
NM_001029883.3(PCARE):c.1604T>C (p.Leu535Pro) rs886055923
NM_001029883.3(PCARE):c.1612C>T (p.Gln538Ter)
NM_001029883.3(PCARE):c.1648G>A (p.Glu550Lys) rs200809211
NM_001029883.3(PCARE):c.1663del (p.Val555fs)
NM_001029883.3(PCARE):c.1676G>T (p.Cys559Phe)
NM_001029883.3(PCARE):c.1684C>A (p.Gln562Lys)
NM_001029883.3(PCARE):c.1697AGG[3] (p.Glu569del)
NM_001029883.3(PCARE):c.1697AGG[5] (p.Glu569dup)
NM_001029883.3(PCARE):c.1709_1728del (p.Gly570fs)
NM_001029883.3(PCARE):c.1719G>A (p.Val573=)
NM_001029883.3(PCARE):c.1725C>T (p.Pro575=)
NM_001029883.3(PCARE):c.1739C>T (p.Thr580Met) rs10166913
NM_001029883.3(PCARE):c.1740G>A (p.Thr580=) rs546110503
NM_001029883.3(PCARE):c.1748G>A (p.Gly583Asp)
NM_001029883.3(PCARE):c.1762C>T (p.Pro588Ser) rs886055922
NM_001029883.3(PCARE):c.1775C>T (p.Thr592Met)
NM_001029883.3(PCARE):c.1776G>A (p.Thr592=) rs201520631
NM_001029883.3(PCARE):c.177G>C (p.Glu59Asp) rs151202941
NM_001029883.3(PCARE):c.1786_1789del (p.Glu597fs)
NM_001029883.3(PCARE):c.1793C>T (p.Ser598Leu)
NM_001029883.3(PCARE):c.1794G>A (p.Ser598=) rs535459255
NM_001029883.3(PCARE):c.1804_1805del (p.His603fs)
NM_001029883.3(PCARE):c.1810G>A (p.Val604Met)
NM_001029883.3(PCARE):c.1812G>A (p.Val604=)
NM_001029883.3(PCARE):c.1823C>A (p.Thr608Asn)
NM_001029883.3(PCARE):c.1828C>T (p.Gln610Ter) rs886044003
NM_001029883.3(PCARE):c.1835T>C (p.Leu612Pro) rs200758183
NM_001029883.3(PCARE):c.1837C>T (p.Arg613Ter)
NM_001029883.3(PCARE):c.1838G>A (p.Arg613Gln)
NM_001029883.3(PCARE):c.1841_1848del (p.Arg614fs)
NM_001029883.3(PCARE):c.1844T>A (p.Val615Asp) rs140776870
NM_001029883.3(PCARE):c.184C>G (p.Pro62Ala) rs76346220
NM_001029883.3(PCARE):c.1872G>A (p.Glu624=)
NM_001029883.3(PCARE):c.1873G>A (p.Ala625Thr)
NM_001029883.3(PCARE):c.1882G>A (p.Ala628Thr) rs571059484
NM_001029883.3(PCARE):c.1883_1887del (p.Ala628fs)
NM_001029883.3(PCARE):c.1892C>T (p.Ala631Val)
NM_001029883.3(PCARE):c.1894A>T (p.Lys632Ter)
NM_001029883.3(PCARE):c.1897GGGCAG[3] (p.633GQ[3])
NM_001029883.3(PCARE):c.18A>T (p.Ser6=) rs1312286590
NM_001029883.3(PCARE):c.1928A>G (p.Gln643Arg)
NM_001029883.3(PCARE):c.1941C>T (p.Ala647=) rs372588982
NM_001029883.3(PCARE):c.1942G>A (p.Ala648Thr) rs75276619
NM_001029883.3(PCARE):c.1944C>G (p.Ala648=)
NM_001029883.3(PCARE):c.1944C>T (p.Ala648=)
NM_001029883.3(PCARE):c.1945G>A (p.Val649Met)
NM_001029883.3(PCARE):c.1949G>A (p.Trp650Ter)
NM_001029883.3(PCARE):c.1951C>T (p.Pro651Ser)
NM_001029883.3(PCARE):c.195G>C (p.Arg65Ser)
NM_001029883.3(PCARE):c.1968G>T (p.Arg656Ser) rs201980758
NM_001029883.3(PCARE):c.1984dup (p.Thr662fs)
NM_001029883.3(PCARE):c.1996C>T (p.Leu666Phe)
NM_001029883.3(PCARE):c.199A>G (p.Asn67Asp)
NM_001029883.3(PCARE):c.2022C>A (p.Phe674Leu) rs200635896
NM_001029883.3(PCARE):c.202C>A (p.Gln68Lys)
NM_001029883.3(PCARE):c.2034T>C (p.Pro678=)
NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr) rs149601594
NM_001029883.3(PCARE):c.2082C>T (p.Asp694=)
NM_001029883.3(PCARE):c.2083G>A (p.Glu695Lys) rs769814461
NM_001029883.3(PCARE):c.2112T>C (p.Asn704=) rs10200693
NM_001029883.3(PCARE):c.2112_2113inv (p.Ala705Thr)
NM_001029883.3(PCARE):c.211G>C (p.Ala71Pro)
NM_001029883.3(PCARE):c.2121A>T (p.Pro707=)
NM_001029883.3(PCARE):c.2125G>A (p.Gly709Arg)
NM_001029883.3(PCARE):c.2126del (p.Gly709fs) rs527236055
NM_001029883.3(PCARE):c.2163T>C (p.Asn721=)
NM_001029883.3(PCARE):c.2175T>A (p.Cys725Ter) rs1187627005
NM_001029883.3(PCARE):c.217G>A (p.Gly73Ser)
NM_001029883.3(PCARE):c.2183G>C (p.Arg728Thr)
NM_001029883.3(PCARE):c.2191G>A (p.Val731Ile) rs201790782
NM_001029883.3(PCARE):c.2197A>C (p.Lys733Gln)
NM_001029883.3(PCARE):c.21C>A (p.His7Gln)
NM_001029883.3(PCARE):c.2222C>T (p.Thr741Met)
NM_001029883.3(PCARE):c.2227_2228del (p.Leu744fs) rs886044002
NM_001029883.3(PCARE):c.2234G>A (p.Arg745Lys)
NM_001029883.3(PCARE):c.2243G>C (p.Gly748Ala)
NM_001029883.3(PCARE):c.2256C>T (p.Asp752=)
NM_001029883.3(PCARE):c.2257G>A (p.Ala753Thr) rs371979312
NM_001029883.3(PCARE):c.2259T>G (p.Ala753=)
NM_001029883.3(PCARE):c.2263G>A (p.Ala755Thr)
NM_001029883.3(PCARE):c.2273G>A (p.Cys758Tyr)
NM_001029883.3(PCARE):c.2287A>G (p.Ile763Val) rs886055921
NM_001029883.3(PCARE):c.2298del (p.Arg767fs) rs1553354660
NM_001029883.3(PCARE):c.2307C>T (p.Pro769=)
NM_001029883.3(PCARE):c.2323G>A (p.Ala775Thr)
NM_001029883.3(PCARE):c.2336C>A (p.Pro779Gln)
NM_001029883.3(PCARE):c.2336C>T (p.Pro779Leu)
NM_001029883.3(PCARE):c.2346A>G (p.Gln782=) rs181545106
NM_001029883.3(PCARE):c.2348T>C (p.Ile783Thr) rs141559332
NM_001029883.3(PCARE):c.2369A>C (p.Glu790Ala)
NM_001029883.3(PCARE):c.2371T>A (p.Ser791Thr)
NM_001029883.3(PCARE):c.2374C>G (p.Leu792Val) rs17744093
NM_001029883.3(PCARE):c.2380dup (p.Met794fs) rs1572827477
NM_001029883.3(PCARE):c.238G>T (p.Asp80Tyr)
NM_001029883.3(PCARE):c.2393G>A (p.Trp798Ter) rs780585710
NM_001029883.3(PCARE):c.2402T>C (p.Leu801Ser)
NM_001029883.3(PCARE):c.2406A>G (p.Ala802=) rs375771666
NM_001029883.3(PCARE):c.2418C>T (p.Pro806=) rs189042259
NM_001029883.3(PCARE):c.2420C>G (p.Pro807Arg)
NM_001029883.3(PCARE):c.2421del (p.Leu808fs)
NM_001029883.3(PCARE):c.2424G>A (p.Leu808=)
NM_001029883.3(PCARE):c.2442C>T (p.Ala814=)
NM_001029883.3(PCARE):c.2449G>C (p.Glu817Gln)
NM_001029883.3(PCARE):c.2459_2460insA (p.Ser820fs)
NM_001029883.3(PCARE):c.2462G>A (p.Cys821Tyr)
NM_001029883.3(PCARE):c.2475G>A (p.Gly825=)
NM_001029883.3(PCARE):c.2485C>T (p.His829Tyr)
NM_001029883.3(PCARE):c.2496A>G (p.Pro832=) rs1572827287
NM_001029883.3(PCARE):c.2499G>A (p.Pro833=) rs34253433
NM_001029883.3(PCARE):c.2502T>C (p.Pro834=) rs184644658
NM_001029883.3(PCARE):c.2506G>T (p.Glu836Ter) rs886044135
NM_001029883.3(PCARE):c.2520C>A (p.Asp840Glu)
NM_001029883.3(PCARE):c.2530G>A (p.Ala844Thr)
NM_001029883.3(PCARE):c.2530G>C (p.Ala844Pro) rs370203821
NM_001029883.3(PCARE):c.2539G>C (p.Glu847Gln)
NM_001029883.3(PCARE):c.2541G>A (p.Glu847=)
NM_001029883.3(PCARE):c.2570A>C (p.Asn857Thr)
NM_001029883.3(PCARE):c.258G>A (p.Arg86=) rs62132765
NM_001029883.3(PCARE):c.2590G>A (p.Glu864Lys)
NM_001029883.3(PCARE):c.2591A>G (p.Glu864Gly)
NM_001029883.3(PCARE):c.2595A>G (p.Pro865=)
NM_001029883.3(PCARE):c.2600C>T (p.Pro867Leu) rs182248363
NM_001029883.3(PCARE):c.2601G>A (p.Pro867=)
NM_001029883.3(PCARE):c.2613C>G (p.Gly871=)
NM_001029883.3(PCARE):c.2615C>T (p.Pro872Leu)
NM_001029883.3(PCARE):c.2617A>G (p.Thr873Ala) rs190462758
NM_001029883.3(PCARE):c.2639C>T (p.Pro880Leu)
NM_001029883.3(PCARE):c.264T>C (p.Asp88=)
NM_001029883.3(PCARE):c.2665dup (p.Leu889fs)
NM_001029883.3(PCARE):c.2666T>C (p.Leu889Pro)
NM_001029883.3(PCARE):c.2691C>T (p.Thr897=)
NM_001029883.3(PCARE):c.2697C>T (p.Ser899=) rs1558488488
NM_001029883.3(PCARE):c.2704A>T (p.Lys902Ter)
NM_001029883.3(PCARE):c.2707C>A (p.Pro903Thr) rs771188017
NM_001029883.3(PCARE):c.2707C>T (p.Pro903Ser)
NM_001029883.3(PCARE):c.2709T>G (p.Pro903=)
NM_001029883.3(PCARE):c.2711A>G (p.His904Arg)
NM_001029883.3(PCARE):c.2727G>A (p.Gly909=)
NM_001029883.3(PCARE):c.2736G>A (p.Arg912=)
NM_001029883.3(PCARE):c.2744G>A (p.Cys915Tyr)
NM_001029883.3(PCARE):c.2751del (p.Arg918fs)
NM_001029883.3(PCARE):c.2756_2768del (p.Lys919fs) rs794728002
NM_001029883.3(PCARE):c.2766G>A (p.Leu922=) rs751605891
NM_001029883.3(PCARE):c.2789_2795dup (p.Gln932fs)
NM_001029883.3(PCARE):c.2796A>C (p.Gln932His) rs794726891
NM_001029883.3(PCARE):c.2803G>A (p.Glu935Lys) rs200817926
NM_001029883.3(PCARE):c.280C>T (p.Pro94Ser)
NM_001029883.3(PCARE):c.2811G>A (p.Lys937=)
NM_001029883.3(PCARE):c.2811G>C (p.Lys937Asn)
NM_001029883.3(PCARE):c.2813G>A (p.Gly938Asp)
NM_001029883.3(PCARE):c.2822G>A (p.Trp941Ter)
NM_001029883.3(PCARE):c.2825G>A (p.Ser942Asn)
NM_001029883.3(PCARE):c.2839G>A (p.Ala947Thr)
NM_001029883.3(PCARE):c.2864G>A (p.Arg955Gln) rs184249075
NM_001029883.3(PCARE):c.2874C>T (p.Ile958=)
NM_001029883.3(PCARE):c.2875G>A (p.Ala959Thr) rs192350796
NM_001029883.3(PCARE):c.2886C>T (p.His962=) rs759131866
NM_001029883.3(PCARE):c.2889C>T (p.Ser963=) rs144569618
NM_001029883.3(PCARE):c.2890G>A (p.Gly964Ser) rs371925633
NM_001029883.3(PCARE):c.2890_2893del (p.Gly964fs)
NM_001029883.3(PCARE):c.2893C>T (p.Pro965Ser)
NM_001029883.3(PCARE):c.2898A>C (p.Pro966=)
NM_001029883.3(PCARE):c.2911A>C (p.Arg971=)
NM_001029883.3(PCARE):c.2920_2921insC (p.Glu974fs) rs1553354488
NM_001029883.3(PCARE):c.293C>T (p.Thr98Ile)
NM_001029883.3(PCARE):c.294C>T (p.Thr98=)
NM_001029883.3(PCARE):c.2950C>A (p.Arg984=) rs774215025
NM_001029883.3(PCARE):c.2950C>T (p.Arg984Ter) rs774215025
NM_001029883.3(PCARE):c.2951G>A (p.Arg984Gln)
NM_001029883.3(PCARE):c.2954A>G (p.Glu985Gly) rs398123539
NM_001029883.3(PCARE):c.2956A>G (p.Arg986Gly)
NM_001029883.3(PCARE):c.2965C>A (p.Pro989Thr) rs184281410
NM_001029883.3(PCARE):c.2965C>G (p.Pro989Ala) rs184281410
NM_001029883.3(PCARE):c.2967del (p.Val990fs)
NM_001029883.3(PCARE):c.2985dup (p.Pro996fs) rs1572826522
NM_001029883.3(PCARE):c.2988dup (p.Thr997fs) rs527236056
NM_001029883.3(PCARE):c.298T>C (p.Ser100Pro)
NM_001029883.3(PCARE):c.2991G>A (p.Thr997=) rs528901190
NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter) rs367658438
NM_001029883.3(PCARE):c.3014C>A (p.Ala1005Glu)
NM_001029883.3(PCARE):c.3023G>A (p.Arg1008Lys)
NM_001029883.3(PCARE):c.3026G>A (p.Arg1009His)
NM_001029883.3(PCARE):c.3029G>A (p.Arg1010Gln)
NM_001029883.3(PCARE):c.3032_3046dup (p.Tyr1016_Arg1017insCysLeuProSerSer) rs1293436955
NM_001029883.3(PCARE):c.3033C>A (p.Ser1011Arg)
NM_001029883.3(PCARE):c.3037C>G (p.Pro1013Ala)
NM_001029883.3(PCARE):c.3044C>A (p.Ser1015Tyr) rs202196567
NM_001029883.3(PCARE):c.3049A>T (p.Arg1017Ter)
NM_001029883.3(PCARE):c.3052C>G (p.Pro1018Ala)
NM_001029883.3(PCARE):c.3058C>A (p.Gln1020Lys) rs201355503
NM_001029883.3(PCARE):c.3058_3059delinsAG (p.Gln1020Arg) rs796065322
NM_001029883.3(PCARE):c.3059A>G (p.Gln1020Arg) rs200367963
NM_001029883.3(PCARE):c.3083C>T (p.Thr1028Met)
NM_001029883.3(PCARE):c.3089C>T (p.Pro1030Leu) rs773374374
NM_001029883.3(PCARE):c.308T>C (p.Leu103Pro)
NM_001029883.3(PCARE):c.3090dup (p.Ser1031fs) rs1558488002
NM_001029883.3(PCARE):c.30T>G (p.Leu10=) rs1297052773
NM_001029883.3(PCARE):c.3108C>T (p.Pro1036=)
NM_001029883.3(PCARE):c.3112G>A (p.Val1038Met)
NM_001029883.3(PCARE):c.3114G>C (p.Val1038=) rs140790266
NM_001029883.3(PCARE):c.3137G>A (p.Arg1046Gln)
NM_001029883.3(PCARE):c.3140G>A (p.Arg1047Gln)
NM_001029883.3(PCARE):c.3160C>T (p.Pro1054Ser)
NM_001029883.3(PCARE):c.3177T>C (p.Pro1059=) rs794726892
NM_001029883.3(PCARE):c.3178C>A (p.Pro1060Thr) rs72861054
NM_001029883.3(PCARE):c.3180C>A (p.Pro1060=)
NM_001029883.3(PCARE):c.3183C>G (p.Pro1061=)
NM_001029883.3(PCARE):c.3183del (p.Glu1062fs)
NM_001029883.3(PCARE):c.3184G>A (p.Glu1062Lys)
NM_001029883.3(PCARE):c.3194C>G (p.Pro1065Arg)
NM_001029883.3(PCARE):c.3212C>G (p.Pro1071Arg)
NM_001029883.3(PCARE):c.3244C>G (p.Pro1082Ala)
NM_001029883.3(PCARE):c.3254C>T (p.Ser1085Leu)
NM_001029883.3(PCARE):c.3255G>A (p.Ser1085=)
NM_001029883.3(PCARE):c.3264_3266del (p.Pro1089del) rs138020654
NM_001029883.3(PCARE):c.3266C>T (p.Pro1089Leu)
NM_001029883.3(PCARE):c.3269C>T (p.Ser1090Leu)
NM_001029883.3(PCARE):c.3271C>A (p.Pro1091Thr)
NM_001029883.3(PCARE):c.3271C>G (p.Pro1091Ala)
NM_001029883.3(PCARE):c.3289C>T (p.Gln1097Ter) rs369937337
NM_001029883.3(PCARE):c.3291G>A (p.Gln1097=) rs183536545
NM_001029883.3(PCARE):c.3300G>A (p.Lys1100=)
NM_001029883.3(PCARE):c.3307A>G (p.Arg1103Gly)
NM_001029883.3(PCARE):c.3315T>C (p.Ser1105=)
NM_001029883.3(PCARE):c.331G>A (p.Ala111Thr)
NM_001029883.3(PCARE):c.3321C>G (p.Asp1107Glu)
NM_001029883.3(PCARE):c.3321C>T (p.Asp1107=)
NM_001029883.3(PCARE):c.3356C>T (p.Thr1119Ile)
NM_001029883.3(PCARE):c.3357A>C (p.Thr1119=)
NM_001029883.3(PCARE):c.3388_3389del (p.Leu1130fs)
NM_001029883.3(PCARE):c.3395A>C (p.Glu1132Ala) rs78874550
NM_001029883.3(PCARE):c.3404C>T (p.Pro1135Leu)
NM_001029883.3(PCARE):c.3405G>A (p.Pro1135=)
NM_001029883.3(PCARE):c.3407C>T (p.Pro1136Leu)
NM_001029883.3(PCARE):c.3412T>C (p.Ser1138Pro)
NM_001029883.3(PCARE):c.3431C>T (p.Thr1144Ile)
NM_001029883.3(PCARE):c.3437C>A (p.Pro1146Gln)
NM_001029883.3(PCARE):c.3440C>T (p.Ser1147Leu)
NM_001029883.3(PCARE):c.3447G>A (p.Pro1149=) rs200278694
NM_001029883.3(PCARE):c.3461G>C (p.Gly1154Ala)
NM_001029883.3(PCARE):c.3468C>T (p.Leu1156=)
NM_001029883.3(PCARE):c.3487T>C (p.Trp1163Arg)
NM_001029883.3(PCARE):c.3488G>A (p.Trp1163Ter)
NM_001029883.3(PCARE):c.3512T>C (p.Leu1171Pro)
NM_001029883.3(PCARE):c.3513G>A (p.Leu1171=)
NM_001029883.3(PCARE):c.3522C>T (p.Asp1174=) rs188815175
NM_001029883.3(PCARE):c.3524C>T (p.Ser1175Leu)
NM_001029883.3(PCARE):c.3525G>A (p.Ser1175=)
NM_001029883.3(PCARE):c.3527A>G (p.Gln1176Arg) rs182812191
NM_001029883.3(PCARE):c.3529C>T (p.Arg1177Trp) rs201354788
NM_001029883.3(PCARE):c.3530G>A (p.Arg1177Gln)
NM_001029883.3(PCARE):c.3531G>A (p.Arg1177=)
NM_001029883.3(PCARE):c.3541C>G (p.Leu1181Val)
NM_001029883.3(PCARE):c.3581C>G (p.Ala1194Gly)
NM_001029883.3(PCARE):c.3581C>T (p.Ala1194Val)
NM_001029883.3(PCARE):c.3589C>A (p.Arg1197Ser)
NM_001029883.3(PCARE):c.3589C>T (p.Arg1197Cys)
NM_001029883.3(PCARE):c.3590G>A (p.Arg1197His) rs375769419
NM_001029883.3(PCARE):c.3604C>T (p.Arg1202Ter)
NM_001029883.3(PCARE):c.3605G>A (p.Arg1202Gln)
NM_001029883.3(PCARE):c.3608C>T (p.Pro1203Leu)
NM_001029883.3(PCARE):c.3609G>A (p.Pro1203=) rs375163820
NM_001029883.3(PCARE):c.3613C>T (p.Pro1205Ser)
NM_001029883.3(PCARE):c.3620C>A (p.Thr1207Asn)
NM_001029883.3(PCARE):c.3625G>C (p.Asp1209His)
NM_001029883.3(PCARE):c.3626A>G (p.Asp1209Gly) rs572724183
NM_001029883.3(PCARE):c.3645T>C (p.Tyr1215=)
NM_001029883.3(PCARE):c.3651C>T (p.Ser1217=)
NM_001029883.3(PCARE):c.3652C>T (p.Gln1218Ter) rs1558487417
NM_001029883.3(PCARE):c.3657C>A (p.Leu1219=)
NM_001029883.3(PCARE):c.3658G>A (p.Gly1220Ser) rs554321432
NM_001029883.3(PCARE):c.3660C>T (p.Gly1220=)
NM_001029883.3(PCARE):c.3666C>T (p.Asn1222=)
NM_001029883.3(PCARE):c.3668+14T>C rs72861052
NM_001029883.3(PCARE):c.3668+2T>C
NM_001029883.3(PCARE):c.3669-2AGC[4]
NM_001029883.3(PCARE):c.3669-5G>A rs886055920
NM_001029883.3(PCARE):c.366T>C (p.His122=) rs17007546
NM_001029883.3(PCARE):c.3672C>A (p.Ser1224Arg)
NM_001029883.3(PCARE):c.3675C>T (p.Ser1225=)
NM_001029883.3(PCARE):c.3675_3676insAGG (p.Glu1226_Glu1227insArg)
NM_001029883.3(PCARE):c.3676G>A (p.Glu1226Lys) rs201781577
NM_001029883.3(PCARE):c.3684C>T (p.Ser1228=)
NM_001029883.3(PCARE):c.3704C>T (p.Pro1235Leu)
NM_001029883.3(PCARE):c.3705G>A (p.Pro1235=) rs191767954
NM_001029883.3(PCARE):c.3706G>C (p.Gly1236Arg)
NM_001029883.3(PCARE):c.3708G>A (p.Gly1236=)
NM_001029883.3(PCARE):c.3708del (p.Ser1237fs)
NM_001029883.3(PCARE):c.3712A>C (p.Ser1238Arg)
NM_001029883.3(PCARE):c.3714C>G (p.Ser1238Arg)
NM_001029883.3(PCARE):c.3717_3718del (p.Cys1240fs) rs1407602065
NM_001029883.3(PCARE):c.3722C>T (p.Ser1241Phe)
NM_001029883.3(PCARE):c.3735G>C (p.Gln1245His)
NM_001029883.3(PCARE):c.3738C>T (p.Gly1246=)
NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser) rs187333111
NM_001029883.3(PCARE):c.3741del (p.Thr1248fs) rs1558485126
NM_001029883.3(PCARE):c.3748C>T (p.Arg1250Cys) rs727503829
NM_001029883.3(PCARE):c.3761C>T (p.Pro1254Leu) rs1975713
NM_001029883.3(PCARE):c.3778G>A (p.Gly1260Ser) rs886042981
NM_001029883.3(PCARE):c.3780C>T (p.Gly1260=) rs572507416
NM_001029883.3(PCARE):c.3783C>T (p.His1261=)
NM_001029883.3(PCARE):c.3789G>A (p.Leu1263=) rs199689791
NM_001029883.3(PCARE):c.3794C>T (p.Pro1265Leu)
NM_001029883.3(PCARE):c.3795G>A (p.Pro1265=)
NM_001029883.3(PCARE):c.37A>T (p.Ser13Cys) rs10084168
NM_001029883.3(PCARE):c.3800C>T (p.Pro1267Leu)
NM_001029883.3(PCARE):c.3803G>A (p.Arg1268Gln)
NM_001029883.3(PCARE):c.3806C>T (p.Thr1269Ile)
NM_001029883.3(PCARE):c.3808G>A (p.Gly1270Ser)
NM_001029883.3(PCARE):c.3813C>T (p.His1271=) rs369662857
NM_001029883.3(PCARE):c.3816C>A (p.Ile1272=)
NM_001029883.3(PCARE):c.3833C>A (p.Pro1278Gln)
NM_001029883.3(PCARE):c.3835G>C (p.Glu1279Gln)
NM_001029883.3(PCARE):c.3840G>A (p.Ala1280=) rs115730331
NM_001029883.3(PCARE):c.3859G>A (p.Val1287Met)
NM_001029883.3(PCARE):c.385T>G (p.Phe129Val)
NM_001029883.3(PCARE):c.391G>T (p.Gly131Ter)
NM_001029883.3(PCARE):c.39C>T (p.Ser13=)
NM_001029883.3(PCARE):c.402T>G (p.Ser134Arg)
NM_001029883.3(PCARE):c.402_405del (p.Ser134fs)
NM_001029883.3(PCARE):c.403G>A (p.Glu135Lys)
NM_001029883.3(PCARE):c.407A>G (p.Glu136Gly)
NM_001029883.3(PCARE):c.40G>A (p.Val14Ile)
NM_001029883.3(PCARE):c.425C>T (p.Thr142Ile)
NM_001029883.3(PCARE):c.428C>T (p.Ser143Phe)
NM_001029883.3(PCARE):c.458C>T (p.Thr153Met)
NM_001029883.3(PCARE):c.459G>A (p.Thr153=) rs372665350
NM_001029883.3(PCARE):c.462A>G (p.Ser154=)
NM_001029883.3(PCARE):c.471G>C (p.Gln157His)
NM_001029883.3(PCARE):c.478_479insA (p.Cys160Ter) rs1572829866
NM_001029883.3(PCARE):c.530C>T (p.Pro177Leu) rs190791051
NM_001029883.3(PCARE):c.531G>A (p.Pro177=) rs200914951
NM_001029883.3(PCARE):c.537T>C (p.Pro179=) rs201965800
NM_001029883.3(PCARE):c.541G>A (p.Val181Ile)
NM_001029883.3(PCARE):c.547G>A (p.Ala183Thr)
NM_001029883.3(PCARE):c.556C>T (p.Gln186Ter) rs267606691
NM_001029883.3(PCARE):c.578C>A (p.Ser193Tyr)
NM_001029883.3(PCARE):c.581G>T (p.Ser194Ile)
NM_001029883.3(PCARE):c.601A>T (p.Ile201Phe) rs267606690
NM_001029883.3(PCARE):c.60G>A (p.Gln20=) rs35929540
NM_001029883.3(PCARE):c.624C>T (p.Ala208=)
NM_001029883.3(PCARE):c.634C>T (p.Arg212Trp) rs368688827
NM_001029883.3(PCARE):c.635G>A (p.Arg212Gln)
NM_001029883.3(PCARE):c.645G>A (p.Leu215=) rs374663422
NM_001029883.3(PCARE):c.655G>A (p.Val219Ile)
NM_001029883.3(PCARE):c.667C>A (p.Leu223Met)
NM_001029883.3(PCARE):c.667C>G (p.Leu223Val) rs372323929
NM_001029883.3(PCARE):c.670C>T (p.Leu224=)
NM_001029883.3(PCARE):c.679G>A (p.Glu227Lys) rs114057537
NM_001029883.3(PCARE):c.683A>T (p.Glu228Val)
NM_001029883.3(PCARE):c.684G>C (p.Glu228Asp)
NM_001029883.3(PCARE):c.701G>A (p.Gly234Glu)
NM_001029883.3(PCARE):c.705G>T (p.Glu235Asp)
NM_001029883.3(PCARE):c.707T>G (p.Ile236Ser) rs1396413765
NM_001029883.3(PCARE):c.709T>G (p.Ser237Ala)
NM_001029883.3(PCARE):c.712A>T (p.Lys238Ter) rs863223344
NM_001029883.3(PCARE):c.724G>A (p.Val242Met)
NM_001029883.3(PCARE):c.740T>C (p.Val247Ala) rs77828062
NM_001029883.3(PCARE):c.747G>A (p.Glu249=)
NM_001029883.3(PCARE):c.755C>A (p.Ala252Asp) rs77003681
NM_001029883.3(PCARE):c.758G>A (p.Trp253Ter) rs750987123
NM_001029883.3(PCARE):c.773G>T (p.Arg258Ile) rs116156338
NM_001029883.3(PCARE):c.776_777del (p.Glu259fs) rs1572829514
NM_001029883.3(PCARE):c.778C>T (p.Pro260Ser)
NM_001029883.3(PCARE):c.801_802delinsAA (p.Gln268Lys)
NM_001029883.3(PCARE):c.802C>A (p.Gln268Lys)
NM_001029883.3(PCARE):c.802C>T (p.Gln268Ter)
NM_001029883.3(PCARE):c.814C>A (p.Gln272Lys)
NM_001029883.3(PCARE):c.837G>C (p.Gln279His)
NM_001029883.3(PCARE):c.845_865del (p.Asn282_Leu288del)
NM_001029883.3(PCARE):c.85C>T (p.Arg29Trp) rs201706430
NM_001029883.3(PCARE):c.867C>T (p.Thr289=) rs199729963
NM_001029883.3(PCARE):c.868G>A (p.Gly290Ser)
NM_001029883.3(PCARE):c.879G>T (p.Leu293=) rs201841912
NM_001029883.3(PCARE):c.88C>T (p.Pro30Ser)
NM_001029883.3(PCARE):c.8G>A (p.Cys3Tyr)
NM_001029883.3(PCARE):c.909T>A (p.Thr303=)
NM_001029883.3(PCARE):c.917A>C (p.His306Pro)
NM_001029883.3(PCARE):c.917A>T (p.His306Leu)
NM_001029883.3(PCARE):c.920T>A (p.Leu307Ter)
NM_001029883.3(PCARE):c.944G>A (p.Arg315Lys)
NM_001029883.3(PCARE):c.947A>C (p.Asn316Thr)
NM_001029883.3(PCARE):c.947del (p.Asn316fs) rs779886453
NM_001029883.3(PCARE):c.955G>A (p.Glu319Lys)
NM_001029883.3(PCARE):c.958C>T (p.Arg320Cys) rs374283240
NM_001029883.3(PCARE):c.958del (p.Arg320fs)
NM_001029883.3(PCARE):c.959G>A (p.Arg320His)
NM_001029883.3(PCARE):c.961C>G (p.Leu321Val) rs147450324
NM_001029883.3(PCARE):c.963C>T (p.Leu321=)
NM_001029883.3(PCARE):c.971C>T (p.Ala324Val)
NM_001029883.3(PCARE):c.994G>A (p.Ala332Thr)
NM_001029883.3(PCARE):c.996G>A (p.Ala332=) rs202025832
NM_001029883.3(PCARE):c.99G>A (p.Gln33=) rs146455733
PCARE, TRP253TER

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.