ClinVar Miner

List of variants in gene PCARE reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 500
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HGVS dbSNP gnomAD frequency
NM_001029883.3(PCARE):c.3059A>G (p.Gln1020Arg) rs200367963 0.00653
NM_001029883.3(PCARE):c.3058C>A (p.Gln1020Lys) rs201355503 0.00651
NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr) rs149601594 0.00556
NM_001029883.3(PCARE):c.2418C>T (p.Pro806=) rs189042259 0.00135
NM_001029883.3(PCARE):c.2864G>A (p.Arg955Gln) rs184249075 0.00126
NM_001029883.3(PCARE):c.530C>T (p.Pro177Leu) rs190791051 0.00126
NM_001029883.3(PCARE):c.667C>G (p.Leu223Val) rs372323929 0.00082
NM_001029883.3(PCARE):c.1285G>A (p.Glu429Lys) rs199580720 0.00068
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser) rs200696965 0.00044
NM_001029883.3(PCARE):c.1951C>T (p.Pro651Ser) rs200233657 0.00041
NM_001029883.3(PCARE):c.3704C>T (p.Pro1235Leu) rs201933656 0.00033
NM_001029883.3(PCARE):c.428C>T (p.Ser143Phe) rs201990008 0.00032
NM_001029883.3(PCARE):c.1453G>A (p.Glu485Lys) rs371845764 0.00031
NM_001029883.3(PCARE):c.959G>A (p.Arg320His) rs201617661 0.00029
NM_001029883.3(PCARE):c.403G>A (p.Glu135Lys) rs200227182 0.00028
NM_001029883.3(PCARE):c.385T>G (p.Phe129Val) rs201413296 0.00027
NM_001029883.3(PCARE):c.1648G>A (p.Glu550Lys) rs200809211 0.00021
NM_001029883.3(PCARE):c.177G>C (p.Glu59Asp) rs151202941 0.00020
NM_001029883.3(PCARE):c.1274G>A (p.Arg425Gln) rs201602930 0.00019
NM_001029883.3(PCARE):c.2666T>C (p.Leu889Pro) rs200893735 0.00019
NM_001029883.3(PCARE):c.3044C>A (p.Ser1015Tyr) rs202196567 0.00018
NM_001029883.3(PCARE):c.3735G>C (p.Gln1245His) rs368860499 0.00017
NM_001029883.3(PCARE):c.1684C>A (p.Gln562Lys) rs201436352 0.00016
NM_001029883.3(PCARE):c.2125G>A (p.Gly709Arg) rs375649076 0.00016
NM_001029883.3(PCARE):c.2222C>T (p.Thr741Met) rs758592526 0.00016
NM_001029883.3(PCARE):c.3052C>G (p.Pro1018Ala) rs374012683 0.00016
NM_001029883.3(PCARE):c.3529C>T (p.Arg1177Trp) rs201354788 0.00015
NM_001029883.3(PCARE):c.3271C>A (p.Pro1091Thr) rs775685036 0.00014
NM_001029883.3(PCARE):c.3440C>T (p.Ser1147Leu) rs368208413 0.00014
NM_001029883.3(PCARE):c.40G>A (p.Val14Ile) rs201588538 0.00014
NM_001029883.3(PCARE):c.1592G>A (p.Arg531Lys) rs180872804 0.00013
NM_001029883.3(PCARE):c.122T>A (p.Ile41Asn) rs370703911 0.00012
NM_001029883.3(PCARE):c.148T>C (p.Cys50Arg) rs201053697 0.00011
NM_001029883.3(PCARE):c.2309A>G (p.Lys770Arg) rs200759534 0.00011
NM_001029883.3(PCARE):c.2951G>A (p.Arg984Gln) rs367888126 0.00011
NM_001029883.3(PCARE):c.3029G>A (p.Arg1010Gln) rs201772623 0.00011
NM_001029883.3(PCARE):c.3032_3046dup (p.Ser1015_Tyr1016insCysLeuProSerSer) rs1293436955 0.00011
NM_001029883.3(PCARE):c.958C>T (p.Arg320Cys) rs374283240 0.00011
NM_001029883.3(PCARE):c.1968G>T (p.Arg656Ser) rs201980758 0.00010
NM_001029883.3(PCARE):c.2191G>A (p.Val731Ile) rs201790782 0.00010
NM_001029883.3(PCARE):c.3194C>G (p.Pro1065Arg) rs201528802 0.00010
NM_001029883.3(PCARE):c.1838G>A (p.Arg613Gln) rs369010126 0.00009
NM_001029883.3(PCARE):c.2323G>A (p.Ala775Thr) rs376533270 0.00009
NM_001029883.3(PCARE):c.2369A>C (p.Glu790Ala) rs200963687 0.00009
NM_001029883.3(PCARE):c.2803G>A (p.Glu935Lys) rs200817926 0.00009
NM_001029883.3(PCARE):c.1432G>A (p.Ala478Thr) rs201444022 0.00008
NM_001029883.3(PCARE):c.1810G>A (p.Val604Met) rs768690093 0.00008
NM_001029883.3(PCARE):c.3184G>A (p.Glu1062Lys) rs555070980 0.00008
NM_001029883.3(PCARE):c.634C>T (p.Arg212Trp) rs368688827 0.00008
NM_001029883.3(PCARE):c.635G>A (p.Arg212Gln) rs763441352 0.00008
NM_001029883.3(PCARE):c.802C>A (p.Gln268Lys) rs866543181 0.00008
NM_001029883.3(PCARE):c.1009G>A (p.Asp337Asn) rs771160450 0.00007
NM_001029883.3(PCARE):c.1525A>G (p.Thr509Ala) rs144622269 0.00007
NM_001029883.3(PCARE):c.2083G>A (p.Glu695Lys) rs769814461 0.00007
NM_001029883.3(PCARE):c.3487T>C (p.Trp1163Arg) rs192100693 0.00007
NM_001029883.3(PCARE):c.1024G>A (p.Gly342Ser) rs748520550 0.00006
NM_001029883.3(PCARE):c.1114G>A (p.Asp372Asn) rs201284350 0.00006
NM_001029883.3(PCARE):c.1132G>A (p.Glu378Lys) rs201900716 0.00006
NM_001029883.3(PCARE):c.1215C>T (p.Gly405=) rs754808908 0.00006
NM_001029883.3(PCARE):c.1250C>A (p.Ala417Asp) rs750706895 0.00006
NM_001029883.3(PCARE):c.1775C>T (p.Thr592Met) rs202166083 0.00006
NM_001029883.3(PCARE):c.2980G>T (p.Ala994Ser) rs552032283 0.00006
NM_001029883.3(PCARE):c.3112G>A (p.Val1038Met) rs192103326 0.00006
NM_001029883.3(PCARE):c.3806C>T (p.Thr1269Ile) rs963611260 0.00006
NM_001029883.3(PCARE):c.3826T>G (p.Ser1276Ala) rs201767517 0.00006
NM_001029883.3(PCARE):c.1316G>A (p.Ser439Asn) rs371031419 0.00005
NM_001029883.3(PCARE):c.2455C>A (p.Leu819Ile) rs773377902 0.00005
NM_001029883.3(PCARE):c.3254C>T (p.Ser1085Leu) rs202213660 0.00005
NM_001029883.3(PCARE):c.3590G>A (p.Arg1197His) rs375769419 0.00005
NM_001029883.3(PCARE):c.3605G>A (p.Arg1202Gln) rs200071634 0.00005
NM_001029883.3(PCARE):c.684G>C (p.Glu228Asp) rs201024585 0.00005
NM_001029883.3(PCARE):c.947A>C (p.Asn316Thr) rs893826658 0.00005
NM_001029883.3(PCARE):c.1121C>G (p.Ala374Gly) rs368965009 0.00004
NM_001029883.3(PCARE):c.1382T>C (p.Ile461Thr) rs377498611 0.00004
NM_001029883.3(PCARE):c.1395G>A (p.Val465=) rs757428273 0.00004
NM_001029883.3(PCARE):c.1868T>C (p.Leu623Pro) rs746690389 0.00004
NM_001029883.3(PCARE):c.1918C>G (p.Gln640Glu) rs760955436 0.00004
NM_001029883.3(PCARE):c.195G>C (p.Arg65Ser) rs369928868 0.00004
NM_001029883.3(PCARE):c.2692G>A (p.Ala898Thr) rs759929694 0.00004
NM_001029883.3(PCARE):c.274C>A (p.Leu92Met) rs752651651 0.00004
NM_001029883.3(PCARE):c.3083C>T (p.Thr1028Met) rs767339069 0.00004
NM_001029883.3(PCARE):c.308T>C (p.Leu103Pro) rs367745882 0.00004
NM_001029883.3(PCARE):c.3437C>A (p.Pro1146Gln) rs372078185 0.00004
NM_001029883.3(PCARE):c.3541C>G (p.Leu1181Val) rs370727666 0.00004
NM_001029883.3(PCARE):c.3589C>T (p.Arg1197Cys) rs369031088 0.00004
NM_001029883.3(PCARE):c.3620C>A (p.Thr1207Asn) rs372010073 0.00004
NM_001029883.3(PCARE):c.3676G>A (p.Glu1226Lys) rs201781577 0.00004
NM_001029883.3(PCARE):c.724G>A (p.Val242Met) rs746789187 0.00004
NM_001029883.3(PCARE):c.868G>A (p.Gly290Ser) rs376703307 0.00004
NM_001029883.3(PCARE):c.1140G>T (p.Trp380Cys) rs752707840 0.00003
NM_001029883.3(PCARE):c.1385G>A (p.Gly462Glu) rs372820770 0.00003
NM_001029883.3(PCARE):c.1492A>T (p.Ser498Cys) rs749485143 0.00003
NM_001029883.3(PCARE):c.1550C>T (p.Ser517Leu) rs753527026 0.00003
NM_001029883.3(PCARE):c.176A>C (p.Glu59Ala) rs771338164 0.00003
NM_001029883.3(PCARE):c.2591A>G (p.Glu864Gly) rs376899263 0.00003
NM_001029883.3(PCARE):c.2954A>G (p.Glu985Gly) rs398123539 0.00003
NM_001029883.3(PCARE):c.3152C>T (p.Pro1051Leu) rs543584326 0.00003
NM_001029883.3(PCARE):c.3212C>G (p.Pro1071Arg) rs1440001545 0.00003
NM_001029883.3(PCARE):c.3461G>C (p.Gly1154Ala) rs756312779 0.00003
NM_001029883.3(PCARE):c.3748C>T (p.Arg1250Cys) rs727503829 0.00003
NM_001029883.3(PCARE):c.3795G>A (p.Pro1265=) rs369699375 0.00003
NM_001029883.3(PCARE):c.3803G>A (p.Arg1268Gln) rs376456208 0.00003
NM_001029883.3(PCARE):c.3859G>A (p.Val1287Met) rs756723301 0.00003
NM_001029883.3(PCARE):c.944G>A (p.Arg315Lys) rs756484547 0.00003
NM_001029883.3(PCARE):c.1088A>G (p.Asp363Gly) rs769056992 0.00002
NM_001029883.3(PCARE):c.1313C>G (p.Thr438Arg) rs750602329 0.00002
NM_001029883.3(PCARE):c.1411A>G (p.Lys471Glu) rs535422868 0.00002
NM_001029883.3(PCARE):c.1477G>C (p.Glu493Gln) rs1212677382 0.00002
NM_001029883.3(PCARE):c.1480G>A (p.Glu494Lys) rs764330510 0.00002
NM_001029883.3(PCARE):c.1793C>T (p.Ser598Leu) rs951378635 0.00002
NM_001029883.3(PCARE):c.1823C>A (p.Thr608Asn) rs761008813 0.00002
NM_001029883.3(PCARE):c.1892C>T (p.Ala631Val) rs369935946 0.00002
NM_001029883.3(PCARE):c.1928A>G (p.Gln643Arg) rs767703292 0.00002
NM_001029883.3(PCARE):c.1973G>C (p.Ser658Thr) rs759843150 0.00002
NM_001029883.3(PCARE):c.2197A>C (p.Lys733Gln) rs746749375 0.00002
NM_001029883.3(PCARE):c.2257G>A (p.Ala753Thr) rs371979312 0.00002
NM_001029883.3(PCARE):c.2420C>G (p.Pro807Arg) rs760160585 0.00002
NM_001029883.3(PCARE):c.2449G>C (p.Glu817Gln) rs1350344619 0.00002
NM_001029883.3(PCARE):c.2498C>T (p.Pro833Leu) rs752107215 0.00002
NM_001029883.3(PCARE):c.2639C>T (p.Pro880Leu) rs577130359 0.00002
NM_001029883.3(PCARE):c.2719G>A (p.Gly907Arg) rs779397432 0.00002
NM_001029883.3(PCARE):c.2744G>A (p.Cys915Tyr) rs753644789 0.00002
NM_001029883.3(PCARE):c.2956A>G (p.Arg986Gly) rs772855158 0.00002
NM_001029883.3(PCARE):c.3230A>C (p.His1077Pro) rs1667468098 0.00002
NM_001029883.3(PCARE):c.3279G>A (p.Met1093Ile) rs747618418 0.00002
NM_001029883.3(PCARE):c.3404C>T (p.Pro1135Leu) rs756152942 0.00002
NM_001029883.3(PCARE):c.344C>T (p.Pro115Leu) rs780352241 0.00002
NM_001029883.3(PCARE):c.3460G>A (p.Gly1154Ser) rs777993707 0.00002
NM_001029883.3(PCARE):c.3535_3540dup (p.Ala1179_Ala1180dup) rs1667458623 0.00002
NM_001029883.3(PCARE):c.358G>C (p.Gly120Arg) rs140625913 0.00002
NM_001029883.3(PCARE):c.3608C>T (p.Pro1203Leu) rs757774860 0.00002
NM_001029883.3(PCARE):c.3669-5G>A rs886055920 0.00002
NM_001029883.3(PCARE):c.3784G>A (p.Gly1262Arg) rs764839767 0.00002
NM_001029883.3(PCARE):c.3800C>T (p.Pro1267Leu) rs760408273 0.00002
NM_001029883.3(PCARE):c.3808G>A (p.Gly1270Ser) rs373543146 0.00002
NM_001029883.3(PCARE):c.553C>G (p.Gln185Glu) rs771358203 0.00002
NM_001029883.3(PCARE):c.559G>A (p.Ala187Thr) rs376525230 0.00002
NM_001029883.3(PCARE):c.85C>T (p.Arg29Trp) rs201706430 0.00002
NM_001029883.3(PCARE):c.860C>T (p.Ser287Leu) rs747864076 0.00002
NM_001029883.3(PCARE):c.86G>A (p.Arg29Gln) rs368417148 0.00002
NM_001029883.3(PCARE):c.1013C>G (p.Pro338Arg) rs1205256009 0.00001
NM_001029883.3(PCARE):c.1092G>C (p.Lys364Asn) rs1202141583 0.00001
NM_001029883.3(PCARE):c.1159C>G (p.His387Asp) rs773124245 0.00001
NM_001029883.3(PCARE):c.1185C>A (p.His395Gln) rs367879157 0.00001
NM_001029883.3(PCARE):c.121A>G (p.Ile41Val) rs200614399 0.00001
NM_001029883.3(PCARE):c.1303C>T (p.Leu435Phe) rs867898903 0.00001
NM_001029883.3(PCARE):c.1318C>G (p.Pro440Ala) rs1469162645 0.00001
NM_001029883.3(PCARE):c.1380G>T (p.Gly460=) rs768329444 0.00001
NM_001029883.3(PCARE):c.1388T>A (p.Val463Asp) rs374926423 0.00001
NM_001029883.3(PCARE):c.1449C>G (p.Asp483Glu) rs763691703 0.00001
NM_001029883.3(PCARE):c.1500G>A (p.Met500Ile) rs886055924 0.00001
NM_001029883.3(PCARE):c.1526C>T (p.Thr509Ile) rs1239765872 0.00001
NM_001029883.3(PCARE):c.157G>T (p.Ala53Ser) rs763595029 0.00001
NM_001029883.3(PCARE):c.1588A>G (p.Arg530Gly) rs1667512218 0.00001
NM_001029883.3(PCARE):c.1676G>T (p.Cys559Phe) rs751489826 0.00001
NM_001029883.3(PCARE):c.1702G>A (p.Glu568Lys) rs1351441356 0.00001
NM_001029883.3(PCARE):c.1766A>G (p.Glu589Gly) rs1476264448 0.00001
NM_001029883.3(PCARE):c.1787C>T (p.Ser596Leu) rs200447763 0.00001
NM_001029883.3(PCARE):c.178G>A (p.Glu60Lys) rs1427138896 0.00001
NM_001029883.3(PCARE):c.1873G>A (p.Ala625Thr) rs1329370221 0.00001
NM_001029883.3(PCARE):c.1996C>T (p.Leu666Phe) rs1252982808 0.00001
NM_001029883.3(PCARE):c.199A>G (p.Asn67Asp) rs1464484832 0.00001
NM_001029883.3(PCARE):c.202C>A (p.Gln68Lys) rs1278804220 0.00001
NM_001029883.3(PCARE):c.2108C>T (p.Pro703Leu) rs1182016935 0.00001
NM_001029883.3(PCARE):c.2139G>T (p.Glu713Asp) rs765319521 0.00001
NM_001029883.3(PCARE):c.217G>A (p.Gly73Ser) rs781588732 0.00001
NM_001029883.3(PCARE):c.2263G>A (p.Ala755Thr) rs1002848166 0.00001
NM_001029883.3(PCARE):c.2273G>A (p.Cys758Tyr) rs185637100 0.00001
NM_001029883.3(PCARE):c.2291T>C (p.Met764Thr) rs150881512 0.00001
NM_001029883.3(PCARE):c.2371T>A (p.Ser791Thr) rs781609460 0.00001
NM_001029883.3(PCARE):c.2387T>C (p.Ile796Thr) rs1249542374 0.00001
NM_001029883.3(PCARE):c.238G>T (p.Asp80Tyr) rs1434226256 0.00001
NM_001029883.3(PCARE):c.2437G>A (p.Ala813Thr) rs1321727253 0.00001
NM_001029883.3(PCARE):c.2474G>A (p.Gly825Glu) rs370416838 0.00001
NM_001029883.3(PCARE):c.2492C>T (p.Pro831Leu) rs565663232 0.00001
NM_001029883.3(PCARE):c.2570A>C (p.Asn857Thr) rs758364172 0.00001
NM_001029883.3(PCARE):c.2590G>A (p.Glu864Lys) rs1013795356 0.00001
NM_001029883.3(PCARE):c.2636C>G (p.Ser879Cys) rs780881657 0.00001
NM_001029883.3(PCARE):c.2707C>A (p.Pro903Thr) rs771188017 0.00001
NM_001029883.3(PCARE):c.2711A>G (p.His904Arg) rs1220510326 0.00001
NM_001029883.3(PCARE):c.2796A>C (p.Gln932His) rs794726891 0.00001
NM_001029883.3(PCARE):c.2813G>A (p.Gly938Asp) rs1490916881 0.00001
NM_001029883.3(PCARE):c.2825G>A (p.Ser942Asn) rs749286077 0.00001
NM_001029883.3(PCARE):c.298T>C (p.Ser100Pro) rs371535790 0.00001
NM_001029883.3(PCARE):c.3023G>A (p.Arg1008Lys) rs1409675064 0.00001
NM_001029883.3(PCARE):c.3026G>A (p.Arg1009His) rs200394246 0.00001
NM_001029883.3(PCARE):c.3089C>T (p.Pro1030Leu) rs773374374 0.00001
NM_001029883.3(PCARE):c.3137G>A (p.Arg1046Gln) rs752697018 0.00001
NM_001029883.3(PCARE):c.3140G>A (p.Arg1047Gln) rs759269733 0.00001
NM_001029883.3(PCARE):c.3169C>T (p.Pro1057Ser) rs1354783566 0.00001
NM_001029883.3(PCARE):c.3220C>T (p.Pro1074Ser) rs1299381541 0.00001
NM_001029883.3(PCARE):c.3269C>T (p.Ser1090Leu) rs761290140 0.00001
NM_001029883.3(PCARE):c.331G>A (p.Ala111Thr) rs777179942 0.00001
NM_001029883.3(PCARE):c.3407C>T (p.Pro1136Leu) rs1293160620 0.00001
NM_001029883.3(PCARE):c.3512T>C (p.Leu1171Pro) rs368728259 0.00001
NM_001029883.3(PCARE):c.3613C>T (p.Pro1205Ser) rs758885470 0.00001
NM_001029883.3(PCARE):c.3625G>C (p.Asp1209His) rs757500585 0.00001
NM_001029883.3(PCARE):c.3640T>A (p.Ser1214Thr) rs1435331037 0.00001
NM_001029883.3(PCARE):c.3706G>C (p.Gly1236Arg) rs1362178863 0.00001
NM_001029883.3(PCARE):c.3714C>A (p.Ser1238Arg) rs368652431 0.00001
NM_001029883.3(PCARE):c.3794C>T (p.Pro1265Leu) rs753843724 0.00001
NM_001029883.3(PCARE):c.3835G>C (p.Glu1279Gln) rs748471967 0.00001
NM_001029883.3(PCARE):c.425C>T (p.Thr142Ile) rs377127854 0.00001
NM_001029883.3(PCARE):c.443C>T (p.Thr148Ile) rs1275452031 0.00001
NM_001029883.3(PCARE):c.458C>T (p.Thr153Met) rs778162481 0.00001
NM_001029883.3(PCARE):c.515G>T (p.Gly172Val) rs946621597 0.00001
NM_001029883.3(PCARE):c.52G>A (p.Gly18Ser) rs534027529 0.00001
NM_001029883.3(PCARE):c.547G>A (p.Ala183Thr) rs981898681 0.00001
NM_001029883.3(PCARE):c.578C>A (p.Ser193Tyr) rs897278443 0.00001
NM_001029883.3(PCARE):c.59A>G (p.Gln20Arg) rs1667548616 0.00001
NM_001029883.3(PCARE):c.683A>T (p.Glu228Val) rs777561961 0.00001
NM_001029883.3(PCARE):c.709T>G (p.Ser237Ala) rs1472805468 0.00001
NM_001029883.3(PCARE):c.814C>A (p.Gln272Lys) rs1015657190 0.00001
NM_001029883.3(PCARE):c.818A>G (p.Tyr273Cys) rs373472347 0.00001
NM_001029883.3(PCARE):c.837G>C (p.Gln279His) rs757686844 0.00001
NM_001029883.3(PCARE):c.895T>G (p.Tyr299Asp) rs760926937 0.00001
NM_001029883.3(PCARE):c.971C>T (p.Ala324Val) rs528632530 0.00001
NM_001029883.3(PCARE):c.982C>G (p.Leu328Val) rs753764485 0.00001
NM_001029883.3(PCARE):c.994G>A (p.Ala332Thr) rs1667526187 0.00001
NC_000002.11:g.(?_29287735)_(29297127_?)dup
NC_000002.12:g.29065068_29065069insCGC rs757355249
NM_001029883.3(PCARE):c.1021C>G (p.Gln341Glu) rs1667525301
NM_001029883.3(PCARE):c.1049G>C (p.Ser350Thr)
NM_001029883.3(PCARE):c.1051G>A (p.Gly351Ser) rs2148416560
NM_001029883.3(PCARE):c.1052G>A (p.Gly351Asp)
NM_001029883.3(PCARE):c.1052G>C (p.Gly351Ala)
NM_001029883.3(PCARE):c.1055T>C (p.Ile352Thr)
NM_001029883.3(PCARE):c.1065C>G (p.Asp355Glu) rs372228597
NM_001029883.3(PCARE):c.1075G>A (p.Val359Met)
NM_001029883.3(PCARE):c.1094_1102del (p.Leu365_Lys367del) rs771566435
NM_001029883.3(PCARE):c.1097G>T (p.Gly366Val)
NM_001029883.3(PCARE):c.1111T>C (p.Trp371Arg)
NM_001029883.3(PCARE):c.1142A>G (p.Lys381Arg) rs1467990940
NM_001029883.3(PCARE):c.1160A>C (p.His387Pro) rs765379745
NM_001029883.3(PCARE):c.1187C>T (p.Thr396Ile) rs1011014294
NM_001029883.3(PCARE):c.1189T>C (p.Trp397Arg) rs749003878
NM_001029883.3(PCARE):c.1225C>G (p.Pro409Ala) rs2148416455
NM_001029883.3(PCARE):c.1233C>G (p.Asp411Glu) rs906515882
NM_001029883.3(PCARE):c.1238T>A (p.Leu413Gln)
NM_001029883.3(PCARE):c.1255A>C (p.Met419Leu)
NM_001029883.3(PCARE):c.1256T>C (p.Met419Thr) rs1667520751
NM_001029883.3(PCARE):c.1263G>T (p.Lys421Asn)
NM_001029883.3(PCARE):c.1306T>C (p.Ser436Pro)
NM_001029883.3(PCARE):c.1306_1308del (p.Ser437del) rs1283365447
NM_001029883.3(PCARE):c.1309A>G (p.Ser437Gly) rs1667519372
NM_001029883.3(PCARE):c.1309A>T (p.Ser437Cys)
NM_001029883.3(PCARE):c.1310G>A (p.Ser437Asn)
NM_001029883.3(PCARE):c.1317C>A (p.Ser439Arg)
NM_001029883.3(PCARE):c.1331C>A (p.Thr444Asn) rs750826772
NM_001029883.3(PCARE):c.1360A>C (p.Thr454Pro) rs1572828853
NM_001029883.3(PCARE):c.1364C>T (p.Pro455Leu)
NM_001029883.3(PCARE):c.1370A>T (p.Asp457Val) rs1667517673
NM_001029883.3(PCARE):c.1424C>A (p.Pro475Gln) rs1358649212
NM_001029883.3(PCARE):c.1424C>T (p.Pro475Leu)
NM_001029883.3(PCARE):c.142T>C (p.Ser48Pro)
NM_001029883.3(PCARE):c.1462A>G (p.Ser488Gly)
NM_001029883.3(PCARE):c.1465C>T (p.Pro489Ser) rs1667515434
NM_001029883.3(PCARE):c.1470GGA[3] (p.Glu494del) rs757209597
NM_001029883.3(PCARE):c.1471G>A (p.Glu491Lys) rs528670230
NM_001029883.3(PCARE):c.1473G>C (p.Glu491Asp)
NM_001029883.3(PCARE):c.1493G>A (p.Ser498Asn)
NM_001029883.3(PCARE):c.1501A>G (p.Ser501Gly)
NM_001029883.3(PCARE):c.1525A>C (p.Thr509Pro) rs144622269
NM_001029883.3(PCARE):c.152A>G (p.Tyr51Cys) rs1234781399
NM_001029883.3(PCARE):c.1540C>T (p.Pro514Ser) rs762977292
NM_001029883.3(PCARE):c.1558G>A (p.Asp520Asn) rs1413450450
NM_001029883.3(PCARE):c.1561C>T (p.Arg521Trp)
NM_001029883.3(PCARE):c.1562G>A (p.Arg521Gln)
NM_001029883.3(PCARE):c.157G>A (p.Ala53Thr)
NM_001029883.3(PCARE):c.1583G>C (p.Arg528Pro) rs373674892
NM_001029883.3(PCARE):c.158C>T (p.Ala53Val)
NM_001029883.3(PCARE):c.1607A>G (p.Gln536Arg)
NM_001029883.3(PCARE):c.1617A>C (p.Glu539Asp) rs2148416170
NM_001029883.3(PCARE):c.1631T>G (p.Met544Arg)
NM_001029883.3(PCARE):c.1642A>G (p.Ile548Val)
NM_001029883.3(PCARE):c.1645A>T (p.Ser549Cys)
NM_001029883.3(PCARE):c.1664T>A (p.Val555Asp)
NM_001029883.3(PCARE):c.1697AGG[2] (p.Glu568_Glu569del) rs755160338
NM_001029883.3(PCARE):c.1697AGG[3] (p.Glu569del) rs755160338
NM_001029883.3(PCARE):c.1697AGG[5] (p.Glu569dup) rs755160338
NM_001029883.3(PCARE):c.1708G>A (p.Gly570Arg) rs1238171256
NM_001029883.3(PCARE):c.1717G>T (p.Val573Leu)
NM_001029883.3(PCARE):c.1725_1727del (p.Pro576del) rs1341882335
NM_001029883.3(PCARE):c.1748G>A (p.Gly583Asp) rs1667509483
NM_001029883.3(PCARE):c.1759G>T (p.Ala587Ser)
NM_001029883.3(PCARE):c.1795T>C (p.Cys599Arg)
NM_001029883.3(PCARE):c.1796G>A (p.Cys599Tyr)
NM_001029883.3(PCARE):c.1801C>A (p.Gln601Lys)
NM_001029883.3(PCARE):c.1813G>A (p.Glu605Lys)
NM_001029883.3(PCARE):c.1822A>G (p.Thr608Ala)
NM_001029883.3(PCARE):c.1850G>A (p.Arg617Lys)
NM_001029883.3(PCARE):c.1853A>T (p.Asp618Val) rs1667507222
NM_001029883.3(PCARE):c.1897GGGCAG[3] (p.633GQ[3]) rs765766763
NM_001029883.3(PCARE):c.1910G>A (p.Ser637Asn)
NM_001029883.3(PCARE):c.1945G>A (p.Val649Met) rs376195796
NM_001029883.3(PCARE):c.1945G>C (p.Val649Leu) rs376195796
NM_001029883.3(PCARE):c.1961C>A (p.Thr654Asn) rs1026914983
NM_001029883.3(PCARE):c.2040G>T (p.Gln680His)
NM_001029883.3(PCARE):c.2050A>T (p.Ile684Phe) rs762336190
NM_001029883.3(PCARE):c.2063G>T (p.Cys688Phe) rs149601594
NM_001029883.3(PCARE):c.2068C>A (p.Pro690Thr) rs546743700
NM_001029883.3(PCARE):c.2074C>A (p.Pro692Thr) rs748775127
NM_001029883.3(PCARE):c.2099G>A (p.Gly700Glu)
NM_001029883.3(PCARE):c.209C>T (p.Thr70Ile)
NM_001029883.3(PCARE):c.2112_2113inv (p.Ala705Thr)
NM_001029883.3(PCARE):c.2113G>A (p.Ala705Thr) rs2148415847
NM_001029883.3(PCARE):c.2119C>G (p.Pro707Ala) rs1009960167
NM_001029883.3(PCARE):c.211G>C (p.Ala71Pro) rs1342231837
NM_001029883.3(PCARE):c.2120C>T (p.Pro707Leu) rs2148415842
NM_001029883.3(PCARE):c.2138A>G (p.Glu713Gly)
NM_001029883.3(PCARE):c.2150C>A (p.Ala717Asp)
NM_001029883.3(PCARE):c.2150C>G (p.Ala717Gly) rs1667500830
NM_001029883.3(PCARE):c.2183G>C (p.Arg728Thr) rs2148415798
NM_001029883.3(PCARE):c.2203A>C (p.Ile735Leu)
NM_001029883.3(PCARE):c.2203A>T (p.Ile735Phe)
NM_001029883.3(PCARE):c.2234G>A (p.Arg745Lys) rs781754063
NM_001029883.3(PCARE):c.223T>C (p.Cys75Arg)
NM_001029883.3(PCARE):c.2242G>A (p.Gly748Arg)
NM_001029883.3(PCARE):c.2256C>A (p.Asp752Glu) rs375644198
NM_001029883.3(PCARE):c.2319G>T (p.Gly773=) rs1667496430
NM_001029883.3(PCARE):c.232A>G (p.Met78Val)
NM_001029883.3(PCARE):c.2336C>A (p.Pro779Gln) rs763558017
NM_001029883.3(PCARE):c.2336C>T (p.Pro779Leu) rs763558017
NM_001029883.3(PCARE):c.2346A>G (p.Gln782=) rs181545106
NM_001029883.3(PCARE):c.2359T>G (p.Ser787Ala) rs2148415674
NM_001029883.3(PCARE):c.2386A>G (p.Ile796Val) rs1667494520
NM_001029883.3(PCARE):c.2387T>A (p.Ile796Lys)
NM_001029883.3(PCARE):c.2402T>C (p.Leu801Ser) rs1667494172
NM_001029883.3(PCARE):c.2435A>C (p.Glu812Ala) rs1238234324
NM_001029883.3(PCARE):c.2449G>A (p.Glu817Lys)
NM_001029883.3(PCARE):c.2455C>T (p.Leu819Phe)
NM_001029883.3(PCARE):c.2462G>A (p.Cys821Tyr) rs748121789
NM_001029883.3(PCARE):c.2478C>A (p.Asn826Lys)
NM_001029883.3(PCARE):c.2485C>T (p.His829Tyr) rs536921909
NM_001029883.3(PCARE):c.2488C>A (p.Leu830Ile) rs1667490714
NM_001029883.3(PCARE):c.2489T>G (p.Leu830Arg)
NM_001029883.3(PCARE):c.2494C>T (p.Pro832Ser)
NM_001029883.3(PCARE):c.2497C>T (p.Pro833Ser)
NM_001029883.3(PCARE):c.2519A>T (p.Asp840Val)
NM_001029883.3(PCARE):c.251G>T (p.Gly84Val) rs1667544896
NM_001029883.3(PCARE):c.2520C>A (p.Asp840Glu) rs1203236551
NM_001029883.3(PCARE):c.2529C>A (p.Phe843Leu)
NM_001029883.3(PCARE):c.2530G>A (p.Ala844Thr) rs370203821
NM_001029883.3(PCARE):c.2530G>C (p.Ala844Pro) rs370203821
NM_001029883.3(PCARE):c.2540A>C (p.Glu847Ala)
NM_001029883.3(PCARE):c.2573C>A (p.Ser858Tyr) rs1024370222
NM_001029883.3(PCARE):c.2575C>A (p.Pro859Thr)
NM_001029883.3(PCARE):c.2597G>A (p.Gly866Glu)
NM_001029883.3(PCARE):c.2608G>A (p.Ala870Thr) rs1421911155
NM_001029883.3(PCARE):c.2611G>A (p.Gly871Ser) rs2148415490
NM_001029883.3(PCARE):c.2615C>T (p.Pro872Leu) rs1667487026
NM_001029883.3(PCARE):c.2663C>G (p.Pro888Arg)
NM_001029883.3(PCARE):c.2677C>T (p.Pro893Ser) rs753697664
NM_001029883.3(PCARE):c.2705A>G (p.Lys902Arg)
NM_001029883.3(PCARE):c.2707C>T (p.Pro903Ser) rs771188017
NM_001029883.3(PCARE):c.2714G>A (p.Ser905Asn)
NM_001029883.3(PCARE):c.2741G>A (p.Ser914Asn) rs757263701
NM_001029883.3(PCARE):c.2771T>C (p.Leu924Pro)
NM_001029883.3(PCARE):c.2789C>G (p.Thr930Ser) rs1667482047
NM_001029883.3(PCARE):c.2793C>A (p.Ser931Arg)
NM_001029883.3(PCARE):c.2806G>A (p.Val936Met)
NM_001029883.3(PCARE):c.280C>T (p.Pro94Ser) rs1667544211
NM_001029883.3(PCARE):c.2811G>C (p.Lys937Asn) rs900634939
NM_001029883.3(PCARE):c.2812G>A (p.Gly938Ser)
NM_001029883.3(PCARE):c.2815G>A (p.Gly939Arg) rs1667481133
NM_001029883.3(PCARE):c.2828A>C (p.Gln943Pro)
NM_001029883.3(PCARE):c.2839G>A (p.Ala947Thr) rs1470810153
NM_001029883.3(PCARE):c.2855G>A (p.Arg952Lys)
NM_001029883.3(PCARE):c.2869G>T (p.Ala957Ser) rs1267047277
NM_001029883.3(PCARE):c.2875G>C (p.Ala959Pro) rs192350796
NM_001029883.3(PCARE):c.2880G>C (p.Trp960Cys)
NM_001029883.3(PCARE):c.2893C>T (p.Pro965Ser) rs1667478789
NM_001029883.3(PCARE):c.2911A>G (p.Arg971Gly) rs780099739
NM_001029883.3(PCARE):c.2950C>A (p.Arg984=) rs774215025
NM_001029883.3(PCARE):c.2953G>A (p.Glu985Lys) rs1226427738
NM_001029883.3(PCARE):c.2963C>T (p.Pro988Leu) rs769818230
NM_001029883.3(PCARE):c.2965C>A (p.Pro989Thr) rs184281410
NM_001029883.3(PCARE):c.2966C>T (p.Pro989Leu) rs113376827
NM_001029883.3(PCARE):c.2974A>G (p.Arg992Gly) rs2148415220
NM_001029883.3(PCARE):c.2996C>A (p.Thr999Lys) rs1053035344
NM_001029883.3(PCARE):c.3002G>C (p.Trp1001Ser) rs367658438
NM_001029883.3(PCARE):c.3014C>A (p.Ala1005Glu) rs761782513
NM_001029883.3(PCARE):c.3021G>T (p.Lys1007Asn) rs768648796
NM_001029883.3(PCARE):c.3028C>T (p.Arg1010Trp)
NM_001029883.3(PCARE):c.3033C>A (p.Ser1011Arg) rs1471434946
NM_001029883.3(PCARE):c.3066C>A (p.Ser1022Arg)
NM_001029883.3(PCARE):c.3101T>C (p.Val1034Ala)
NM_001029883.3(PCARE):c.3116T>G (p.Leu1039Arg)
NM_001029883.3(PCARE):c.3124C>G (p.Pro1042Ala)
NM_001029883.3(PCARE):c.3160C>T (p.Pro1054Ser) rs1018948912
NM_001029883.3(PCARE):c.3172A>G (p.Asn1058Asp) rs2148415061
NM_001029883.3(PCARE):c.3177T>C (p.Pro1059=) rs794726892
NM_001029883.3(PCARE):c.3178C>T (p.Pro1060Ser) rs72861054
NM_001029883.3(PCARE):c.3181C>G (p.Pro1061Ala)
NM_001029883.3(PCARE):c.3221C>A (p.Pro1074Gln) rs2148415007
NM_001029883.3(PCARE):c.323G>C (p.Ser108Thr)
NM_001029883.3(PCARE):c.3244C>G (p.Pro1082Ala) rs1667467698
NM_001029883.3(PCARE):c.3250T>C (p.Phe1084Leu)
NM_001029883.3(PCARE):c.3251T>A (p.Phe1084Tyr)
NM_001029883.3(PCARE):c.3266C>T (p.Pro1089Leu) rs1667466484
NM_001029883.3(PCARE):c.3271C>G (p.Pro1091Ala) rs775685036
NM_001029883.3(PCARE):c.3271C>T (p.Pro1091Ser) rs775685036
NM_001029883.3(PCARE):c.3274C>G (p.Pro1092Ala) rs554207986
NM_001029883.3(PCARE):c.3298A>C (p.Lys1100Gln)
NM_001029883.3(PCARE):c.3312C>G (p.Asp1104Glu) rs764321524
NM_001029883.3(PCARE):c.3316G>A (p.Glu1106Lys)
NM_001029883.3(PCARE):c.3321C>G (p.Asp1107Glu) rs913676404
NM_001029883.3(PCARE):c.3323G>C (p.Ser1108Thr)
NM_001029883.3(PCARE):c.3328G>A (p.Ala1110Thr) rs759887640
NM_001029883.3(PCARE):c.3376G>C (p.Ala1126Pro)
NM_001029883.3(PCARE):c.337G>T (p.Asp113Tyr)
NM_001029883.3(PCARE):c.3386C>G (p.Ser1129Cys) rs1667463076
NM_001029883.3(PCARE):c.3409C>T (p.Leu1137Phe)
NM_001029883.3(PCARE):c.3412T>C (p.Ser1138Pro) rs1406704985
NM_001029883.3(PCARE):c.3418G>A (p.Ala1140Thr)
NM_001029883.3(PCARE):c.3431C>T (p.Thr1144Ile) rs1667462111
NM_001029883.3(PCARE):c.3439T>C (p.Ser1147Pro) rs1667461245
NM_001029883.3(PCARE):c.3469G>A (p.Gly1157Arg) rs755486918
NM_001029883.3(PCARE):c.3478G>A (p.Ala1160Thr)
NM_001029883.3(PCARE):c.349A>C (p.Lys117Gln)
NM_001029883.3(PCARE):c.349A>G (p.Lys117Glu)
NM_001029883.3(PCARE):c.3506C>G (p.Pro1169Arg) rs2148414787
NM_001029883.3(PCARE):c.3515G>C (p.Arg1172Thr)
NM_001029883.3(PCARE):c.3521_3538del (p.Asp1174_Ala1179del) rs773072098
NM_001029883.3(PCARE):c.3524C>T (p.Ser1175Leu) rs1243777937
NM_001029883.3(PCARE):c.3527A>C (p.Gln1176Pro) rs182812191
NM_001029883.3(PCARE):c.3530G>A (p.Arg1177Gln) rs375826049
NM_001029883.3(PCARE):c.3550C>G (p.Leu1184Val)
NM_001029883.3(PCARE):c.3572GGA[1] (p.Arg1192del) rs769723773
NM_001029883.3(PCARE):c.3581C>G (p.Ala1194Gly) rs372953965
NM_001029883.3(PCARE):c.3581C>T (p.Ala1194Val) rs372953965
NM_001029883.3(PCARE):c.3589C>A (p.Arg1197Ser) rs369031088
NM_001029883.3(PCARE):c.364C>T (p.His122Tyr)
NM_001029883.3(PCARE):c.3669-5_3669-3dup rs386389811
NM_001029883.3(PCARE):c.3672C>A (p.Ser1224Arg) rs1667372231
NM_001029883.3(PCARE):c.3675C>T (p.Ser1225=) rs1572822221
NM_001029883.3(PCARE):c.3675_3676insAGG (p.Ser1225_Glu1226insArg) rs1553353627
NM_001029883.3(PCARE):c.3675_3676insAGT (p.Ser1225dup) rs1553353627
NM_001029883.3(PCARE):c.3688AAG[1] (p.Lys1231del) rs1340403402
NM_001029883.3(PCARE):c.3708del (p.Ser1237fs) rs756746994
NM_001029883.3(PCARE):c.3714C>G (p.Ser1238Arg) rs368652431
NM_001029883.3(PCARE):c.3718T>C (p.Cys1240Arg) rs1299468792
NM_001029883.3(PCARE):c.3731T>C (p.Leu1244Pro)
NM_001029883.3(PCARE):c.3741del (p.Thr1248fs) rs1558485126
NM_001029883.3(PCARE):c.3749G>A (p.Arg1250His)
NM_001029883.3(PCARE):c.3778G>A (p.Gly1260Ser) rs886042981
NM_001029883.3(PCARE):c.3788T>C (p.Leu1263Pro)
NM_001029883.3(PCARE):c.3813C>T (p.His1271=) rs369662857
NM_001029883.3(PCARE):c.3833C>A (p.Pro1278Gln) rs1206230876
NM_001029883.3(PCARE):c.3839C>T (p.Ala1280Val)
NM_001029883.3(PCARE):c.3847del (p.Gln1283fs)
NM_001029883.3(PCARE):c.389C>T (p.Ser130Phe) rs2148416972
NM_001029883.3(PCARE):c.397G>A (p.Glu133Lys) rs768682214
NM_001029883.3(PCARE):c.397G>C (p.Glu133Gln) rs768682214
NM_001029883.3(PCARE):c.422A>G (p.Asp141Gly)
NM_001029883.3(PCARE):c.467C>T (p.Thr156Ile)
NM_001029883.3(PCARE):c.471G>C (p.Gln157His) rs1667539639
NM_001029883.3(PCARE):c.485A>G (p.Gln162Arg)
NM_001029883.3(PCARE):c.514G>A (p.Gly172Ser)
NM_001029883.3(PCARE):c.524A>G (p.Asp175Gly) rs1280650039
NM_001029883.3(PCARE):c.537T>C (p.Pro179=) rs201965800
NM_001029883.3(PCARE):c.541G>A (p.Val181Ile) rs1667537699
NM_001029883.3(PCARE):c.556C>A (p.Gln186Lys) rs267606691
NM_001029883.3(PCARE):c.565A>G (p.Thr189Ala)
NM_001029883.3(PCARE):c.566C>G (p.Thr189Ser)
NM_001029883.3(PCARE):c.569A>G (p.Tyr190Cys)
NM_001029883.3(PCARE):c.581G>T (p.Ser194Ile) rs753979925
NM_001029883.3(PCARE):c.598G>A (p.Ala200Thr)
NM_001029883.3(PCARE):c.601A>T (p.Ile201Phe) rs267606690
NM_001029883.3(PCARE):c.638A>G (p.Glu213Gly)
NM_001029883.3(PCARE):c.644T>G (p.Leu215Arg)
NM_001029883.3(PCARE):c.667C>A (p.Leu223Met) rs372323929
NM_001029883.3(PCARE):c.701G>A (p.Gly234Glu) rs765939571
NM_001029883.3(PCARE):c.705G>T (p.Glu235Asp) rs766967937
NM_001029883.3(PCARE):c.707T>G (p.Ile236Ser) rs1396413765
NM_001029883.3(PCARE):c.728T>C (p.Leu243Pro) rs2148416787
NM_001029883.3(PCARE):c.739_740delinsAA (p.Val247Asn) rs2148416782
NM_001029883.3(PCARE):c.740T>A (p.Val247Asp) rs77828062
NM_001029883.3(PCARE):c.743G>C (p.Arg248Thr) rs748348235
NM_001029883.3(PCARE):c.752T>C (p.Leu251Pro)
NM_001029883.3(PCARE):c.760C>A (p.Pro254Thr) rs192023448
NM_001029883.3(PCARE):c.760C>G (p.Pro254Ala)
NM_001029883.3(PCARE):c.767A>T (p.Lys256Met)
NM_001029883.3(PCARE):c.778C>T (p.Pro260Ser) rs1667531185
NM_001029883.3(PCARE):c.786G>C (p.Glu262Asp) rs2148416737
NM_001029883.3(PCARE):c.801_802delinsAA (p.Gln268Lys) rs2148416727
NM_001029883.3(PCARE):c.845A>G (p.Asn282Ser) rs2148416699
NM_001029883.3(PCARE):c.862C>T (p.Leu288Phe)
NM_001029883.3(PCARE):c.88C>T (p.Pro30Ser) rs1667547984
NM_001029883.3(PCARE):c.899T>G (p.Leu300Arg) rs2148416666
NM_001029883.3(PCARE):c.902A>G (p.His301Arg)
NM_001029883.3(PCARE):c.909T>A (p.Thr303=) rs1260424225
NM_001029883.3(PCARE):c.911C>G (p.Ala304Gly)
NM_001029883.3(PCARE):c.917A>C (p.His306Pro) rs771501919
NM_001029883.3(PCARE):c.917A>T (p.His306Leu) rs771501919
NM_001029883.3(PCARE):c.946A>G (p.Asn316Asp)
NM_001029883.3(PCARE):c.955G>A (p.Glu319Lys) rs1437883654
NM_001029883.3(PCARE):c.983T>C (p.Leu328Pro)
NM_001029883.3(PCARE):c.995C>T (p.Ala332Val)
NM_001029883.3(PCARE):c.998G>C (p.Ser333Thr) rs1302334612

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