ClinVar Miner

List of variants in gene PIK3R1 studied for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 414
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HGVS dbSNP gnomAD frequency
NM_181523.3(PIK3R1):c.334+14A>C rs706714 0.31124
NM_181523.3(PIK3R1):c.219C>T (p.Tyr73=) rs706713 0.31073
NM_181523.3(PIK3R1):c.428-21G>A rs171649 0.28654
NM_181523.3(PIK3R1):c.978G>A (p.Met326Ile) rs3730089 0.22679
NM_181523.3(PIK3R1):c.1176C>T (p.Phe392=) rs3730090 0.04903
NM_181523.3(PIK3R1):c.2109T>C (p.Leu703=) rs3729981 0.04683
NM_181523.3(PIK3R1):c.621T>C (p.Ile207=) rs61749601 0.02836
NM_181523.3(PIK3R1):c.1118+11G>A rs140892282 0.00661
NM_181523.3(PIK3R1):c.195A>G (p.Glu65=) rs73768883 0.00567
NM_181523.3(PIK3R1):c.687G>A (p.Ser229=) rs34175949 0.00140
NM_181523.3(PIK3R1):c.427+5C>A rs375394677 0.00088
NM_181523.3(PIK3R1):c.1426-20T>G rs201254436 0.00083
NM_181523.3(PIK3R1):c.334+12T>C rs189754791 0.00068
NM_181523.3(PIK3R1):c.1185A>G (p.Pro395=) rs149905863 0.00033
NM_181523.3(PIK3R1):c.1020-3C>T rs200653607 0.00031
NM_181523.3(PIK3R1):c.917-3C>T rs566631081 0.00028
NM_181523.3(PIK3R1):c.917-1513G>T rs144312303 0.00026
NM_181523.3(PIK3R1):c.1920G>A (p.Gly640=) rs61749602 0.00021
NM_181523.3(PIK3R1):c.634+6T>C rs199530427 0.00020
NM_181523.3(PIK3R1):c.563G>A (p.Arg188His) rs148059720 0.00019
NM_181523.3(PIK3R1):c.1020-19T>C rs373504515 0.00017
NM_181523.3(PIK3R1):c.1170T>C (p.Tyr390=) rs17847317 0.00015
NM_181523.3(PIK3R1):c.334+18G>A rs181402217 0.00015
NM_181523.3(PIK3R1):c.306G>A (p.Ser102=) rs538021528 0.00011
NM_181523.3(PIK3R1):c.335-17G>T rs201772482 0.00011
NM_181523.3(PIK3R1):c.716C>T (p.Thr239Met) rs141981005 0.00011
NM_181523.3(PIK3R1):c.1017G>A (p.Ser339=) rs781406681 0.00010
NM_181523.3(PIK3R1):c.1995C>T (p.Gly665=) rs201618039 0.00010
NM_181523.3(PIK3R1):c.249G>A (p.Ser83=) rs771574512 0.00009
NM_181523.3(PIK3R1):c.534T>C (p.Asp178=) rs376359156 0.00009
NM_181523.3(PIK3R1):c.1119-9T>C rs369244066 0.00008
NM_181523.3(PIK3R1):c.1482T>C (p.Phe494=) rs776598336 0.00008
NM_181523.3(PIK3R1):c.541G>A (p.Val181Ile) rs143572224 0.00006
NM_181523.3(PIK3R1):c.825C>A (p.Phe275Leu) rs377030014 0.00006
NM_181523.3(PIK3R1):c.888T>G (p.Thr296=) rs1420907388 0.00006
NM_181523.3(PIK3R1):c.305C>T (p.Ser102Leu) rs368742778 0.00005
NM_181523.3(PIK3R1):c.1056C>T (p.Asp352=) rs144238662 0.00004
NM_181523.3(PIK3R1):c.346C>A (p.Pro116Thr) rs367923318 0.00004
NM_181523.3(PIK3R1):c.347C>T (p.Pro116Leu) rs774531250 0.00004
NM_181523.3(PIK3R1):c.504T>A (p.Asp168Glu) rs758929943 0.00004
NM_181523.3(PIK3R1):c.552C>T (p.Asp184=) rs374140006 0.00004
NM_181523.3(PIK3R1):c.562C>T (p.Arg188Cys) rs547196342 0.00004
NM_181523.3(PIK3R1):c.604G>A (p.Val202Ile) rs747881833 0.00004
NM_181523.3(PIK3R1):c.717G>A (p.Thr239=) rs745860837 0.00004
NM_181523.3(PIK3R1):c.845A>C (p.Asn282Thr) rs771365361 0.00004
NM_181523.3(PIK3R1):c.108C>A (p.Ser36=) rs775593894 0.00003
NM_181523.3(PIK3R1):c.1507C>A (p.Arg503=) rs759347287 0.00003
NM_181523.3(PIK3R1):c.29C>T (p.Ala10Val) rs767837787 0.00003
NM_181523.3(PIK3R1):c.513C>T (p.Ser171=) rs781475250 0.00003
NM_181523.3(PIK3R1):c.514G>A (p.Val172Met) rs112487959 0.00003
NM_181523.3(PIK3R1):c.889G>A (p.Glu297Lys) rs763278796 0.00003
NM_181523.3(PIK3R1):c.961G>A (p.Gly321Ser) rs142439210 0.00003
NM_181523.3(PIK3R1):c.1993G>A (p.Gly665Ser) rs751595991 0.00002
NM_181523.3(PIK3R1):c.202G>C (p.Asp68His) rs755043940 0.00002
NM_181523.3(PIK3R1):c.2168G>A (p.Arg723Lys) rs762818071 0.00002
NM_181523.3(PIK3R1):c.405C>T (p.Leu135=) rs758397455 0.00002
NM_181523.3(PIK3R1):c.526A>G (p.Met176Val) rs200820769 0.00002
NM_181523.3(PIK3R1):c.610A>G (p.Ser204Gly) rs1481771249 0.00002
NM_181523.3(PIK3R1):c.611G>A (p.Ser204Asn) rs771919405 0.00002
NM_181523.3(PIK3R1):c.1019+6G>C rs749016701 0.00001
NM_181523.3(PIK3R1):c.1020-8C>G rs770213442 0.00001
NM_181523.3(PIK3R1):c.1080G>A (p.Ala360=) rs758102357 0.00001
NM_181523.3(PIK3R1):c.1118+5G>A rs773388284 0.00001
NM_181523.3(PIK3R1):c.1157G>A (p.Arg386Gln) rs766524768 0.00001
NM_181523.3(PIK3R1):c.1194C>T (p.Phe398=) rs755664296 0.00001
NM_181523.3(PIK3R1):c.1226G>A (p.Arg409Gln) rs748784250 0.00001
NM_181523.3(PIK3R1):c.1300-10A>T rs377666209 0.00001
NM_181523.3(PIK3R1):c.1305A>G (p.Gln435=) rs935776281 0.00001
NM_181523.3(PIK3R1):c.1332T>C (p.Ala444=) rs1230274577 0.00001
NM_181523.3(PIK3R1):c.1413C>T (p.Thr471=) rs1580262909 0.00001
NM_181523.3(PIK3R1):c.1568+18T>G rs772367889 0.00001
NM_181523.3(PIK3R1):c.1568+7del rs762253615 0.00001
NM_181523.3(PIK3R1):c.1569-17G>A rs780706346 0.00001
NM_181523.3(PIK3R1):c.1569-18C>T rs557466936 0.00001
NM_181523.3(PIK3R1):c.1605C>A (p.Ile535=) rs1747639846 0.00001
NM_181523.3(PIK3R1):c.1653G>A (p.Lys551=) rs775385667 0.00001
NM_181523.3(PIK3R1):c.168A>G (p.Leu56=) rs972790556 0.00001
NM_181523.3(PIK3R1):c.1785C>T (p.Asn595=) rs760360348 0.00001
NM_181523.3(PIK3R1):c.1928A>T (p.Asp643Val) rs1747710716 0.00001
NM_181523.3(PIK3R1):c.2046C>T (p.Ala682=) rs779578323 0.00001
NM_181523.3(PIK3R1):c.2100C>T (p.His700=) rs1438509498 0.00001
NM_181523.3(PIK3R1):c.2132A>G (p.Asn711Ser) rs374119964 0.00001
NM_181523.3(PIK3R1):c.2139A>G (p.Thr713=) rs1454328791 0.00001
NM_181523.3(PIK3R1):c.220G>A (p.Val74Ile) rs755953968 0.00001
NM_181523.3(PIK3R1):c.291T>C (p.Val97=) rs751812106 0.00001
NM_181523.3(PIK3R1):c.330A>G (p.Gln110=) rs371843549 0.00001
NM_181523.3(PIK3R1):c.334+4A>G rs1263122579 0.00001
NM_181523.3(PIK3R1):c.348G>A (p.Pro116=) rs762006134 0.00001
NM_181523.3(PIK3R1):c.387G>A (p.Pro129=) rs201402919 0.00001
NM_181523.3(PIK3R1):c.399C>G (p.Ile133Met) rs752552706 0.00001
NM_181523.3(PIK3R1):c.427+4A>C rs1380740486 0.00001
NM_181523.3(PIK3R1):c.445C>T (p.Leu149=) rs767073354 0.00001
NM_181523.3(PIK3R1):c.450C>T (p.Tyr150=) rs1339790364 0.00001
NM_181523.3(PIK3R1):c.484C>T (p.Arg162Ter) rs1230037871 0.00001
NM_181523.3(PIK3R1):c.506C>T (p.Thr169Ile) rs778443805 0.00001
NM_181523.3(PIK3R1):c.536T>C (p.Val179Ala) rs771949848 0.00001
NM_181523.3(PIK3R1):c.540C>T (p.His180=) rs529029580 0.00001
NM_181523.3(PIK3R1):c.553G>A (p.Ala185Thr) rs765008592 0.00001
NM_181523.3(PIK3R1):c.567T>C (p.Tyr189=) rs778360098 0.00001
NM_181523.3(PIK3R1):c.571C>T (p.Leu191=) rs533077843 0.00001
NM_181523.3(PIK3R1):c.572T>A (p.Leu191Gln) rs1477562598 0.00001
NM_181523.3(PIK3R1):c.586C>T (p.Pro196Ser) rs1418066079 0.00001
NM_181523.3(PIK3R1):c.609C>T (p.Tyr203=) rs1331105445 0.00001
NM_181523.3(PIK3R1):c.616A>G (p.Met206Val) rs773185995 0.00001
NM_181523.3(PIK3R1):c.634+11T>C rs1287288917 0.00001
NM_181523.3(PIK3R1):c.635-11T>A rs745306907 0.00001
NM_181523.3(PIK3R1):c.65T>C (p.Ile22Thr) rs150689648 0.00001
NM_181523.3(PIK3R1):c.739T>C (p.Phe247Leu) rs1486145236 0.00001
NM_181523.3(PIK3R1):c.747G>C (p.Lys249Asn) rs147303522 0.00001
NM_181523.3(PIK3R1):c.752C>T (p.Ser251Phe) rs1184502086 0.00001
NM_181523.3(PIK3R1):c.768A>G (p.Lys256=) rs1746797017 0.00001
NM_181523.3(PIK3R1):c.837-11C>T rs1226781279 0.00001
NM_181523.3(PIK3R1):c.869T>C (p.Ile290Thr) rs759526958 0.00001
NM_181523.3(PIK3R1):c.917-4792G>A rs1747126586 0.00001
NM_181523.3(PIK3R1):c.960C>T (p.Asn320=) rs201809898 0.00001
NM_181523.3(PIK3R1):c.9T>C (p.Ala3=) rs1447146494 0.00001
NM_181523.3(PIK3R1):c.*1del (p.Ter725=) rs1747800027
NM_181523.3(PIK3R1):c.1017G>C (p.Ser339=) rs781406681
NM_181523.3(PIK3R1):c.1019+16C>G
NM_181523.3(PIK3R1):c.1019+19C>T
NM_181523.3(PIK3R1):c.1019+5_1019+7del
NM_181523.3(PIK3R1):c.1020G>A (p.Arg340=)
NM_181523.3(PIK3R1):c.1029G>A (p.Val343=) rs1747485112
NM_181523.3(PIK3R1):c.102A>G (p.Lys34=)
NM_181523.3(PIK3R1):c.1042C>G (p.Arg348Gly)
NM_181523.3(PIK3R1):c.104G>C (p.Gly35Ala) rs1017086766
NM_181523.3(PIK3R1):c.104_105delinsAC (p.Gly35Asp)
NM_181523.3(PIK3R1):c.1050A>G (p.Thr350=)
NM_181523.3(PIK3R1):c.105G>A (p.Gly35=)
NM_181523.3(PIK3R1):c.1061C>G (p.Thr354Ser)
NM_181523.3(PIK3R1):c.1072C>T (p.Arg358Ter)
NM_181523.3(PIK3R1):c.1092G>A (p.Met364Ile)
NM_181523.3(PIK3R1):c.1118+11del
NM_181523.3(PIK3R1):c.1119-13A>T
NM_181523.3(PIK3R1):c.119T>C (p.Leu40Pro) rs2111964134
NM_181523.3(PIK3R1):c.1202T>C (p.Val401Ala)
NM_181523.3(PIK3R1):c.1216A>C (p.Asn406His)
NM_181523.3(PIK3R1):c.1218C>T (p.Asn406=)
NM_181523.3(PIK3R1):c.1224C>T (p.Tyr408=)
NM_181523.3(PIK3R1):c.1258T>G (p.Leu420Val)
NM_181523.3(PIK3R1):c.1260G>A (p.Leu420=) rs1747501345
NM_181523.3(PIK3R1):c.1264G>A (p.Val422Met)
NM_181523.3(PIK3R1):c.1273C>A (p.Leu425Ile) rs1001616209
NM_181523.3(PIK3R1):c.1273C>T (p.Leu425Phe) rs1001616209
NM_181523.3(PIK3R1):c.1289A>C (p.Lys430Thr) rs188617536
NM_181523.3(PIK3R1):c.1289A>G (p.Lys430Arg)
NM_181523.3(PIK3R1):c.1299+4A>G
NM_181523.3(PIK3R1):c.1299+9_1299+19del
NM_181523.3(PIK3R1):c.1300-10A>C rs377666209
NM_181523.3(PIK3R1):c.1300-13T>G
NM_181523.3(PIK3R1):c.1300-15T>A rs750356306
NM_181523.3(PIK3R1):c.1300-15T>C
NM_181523.3(PIK3R1):c.1300-1G>C rs1554051033
NM_181523.3(PIK3R1):c.1300-2A>G rs1403833564
NM_181523.3(PIK3R1):c.1300-5_1320del rs2112261986
NM_181523.3(PIK3R1):c.1306_1313del (p.Val436fs)
NM_181523.3(PIK3R1):c.1314_1317del (p.Glu439fs)
NM_181523.3(PIK3R1):c.1319A>G (p.Asp440Gly)
NM_181523.3(PIK3R1):c.1344del (p.Lys448fs) rs1289537429
NM_181523.3(PIK3R1):c.1344dup (p.Leu449fs) rs1289537429
NM_181523.3(PIK3R1):c.1350_1360del (p.Glu451fs)
NM_181523.3(PIK3R1):c.1380_1397del (p.Ser460_Leu466delinsArg)
NM_181523.3(PIK3R1):c.1381C>T (p.Arg461Ter) rs1057519838
NM_181523.3(PIK3R1):c.1396T>C (p.Leu466=) rs754454562
NM_181523.3(PIK3R1):c.1407A>C (p.Glu469Asp) rs747844946
NM_181523.3(PIK3R1):c.1415G>A (p.Arg472His)
NM_181523.3(PIK3R1):c.1422C>T (p.Ser474=)
NM_181523.3(PIK3R1):c.1425+11T>A
NM_181523.3(PIK3R1):c.1425+12A>G rs370702392
NM_181523.3(PIK3R1):c.1425+19T>C
NM_181523.3(PIK3R1):c.1425+1G>A rs587777709
NM_181523.3(PIK3R1):c.1425+1G>C rs587777709
NM_181523.3(PIK3R1):c.1425+1G>T rs587777709
NM_181523.3(PIK3R1):c.1425+2T>A rs1554051075
NM_181523.3(PIK3R1):c.1425+2T>G rs1554051075
NM_181523.3(PIK3R1):c.1425+2_1425+3del rs1554051067
NM_181523.3(PIK3R1):c.1434A>G (p.Gln478=)
NM_181523.3(PIK3R1):c.1462A>G (p.Asn488Asp) rs1747587410
NM_181523.3(PIK3R1):c.1464T>C (p.Asn488=)
NM_181523.3(PIK3R1):c.1508G>T (p.Arg503Leu) rs765178503
NM_181523.3(PIK3R1):c.1512C>T (p.Tyr504=) rs1483544920
NM_181523.3(PIK3R1):c.151G>A (p.Glu51Lys)
NM_181523.3(PIK3R1):c.1524C>T (p.Tyr508=)
NM_181523.3(PIK3R1):c.1539_1547del (p.Lys513_Gly516delinsAsn)
NM_181523.3(PIK3R1):c.1541G>A (p.Arg514His) rs2112270035
NM_181523.3(PIK3R1):c.1541G>C (p.Arg514Pro)
NM_181523.3(PIK3R1):c.1556A>G (p.Lys519Arg) rs1131691859
NM_181523.3(PIK3R1):c.1566A>G (p.Gln522=) rs2112270247
NM_181523.3(PIK3R1):c.1568+10_1568+18del rs1747596001
NM_181523.3(PIK3R1):c.1568+10dup rs2112270441
NM_181523.3(PIK3R1):c.1568+13C>G rs779251252
NM_181523.3(PIK3R1):c.1568+2T>C rs780724594
NM_181523.3(PIK3R1):c.1568+4G>C
NM_181523.3(PIK3R1):c.1569-14T>C rs2112273923
NM_181523.3(PIK3R1):c.1569-3C>T rs1747637758
NM_181523.3(PIK3R1):c.1569-6C>T
NM_181523.3(PIK3R1):c.157A>G (p.Ile53Val)
NM_181523.3(PIK3R1):c.1598C>G (p.Ser533Cys)
NM_181523.3(PIK3R1):c.1621A>G (p.Ser541Gly)
NM_181523.3(PIK3R1):c.1628G>A (p.Arg543Lys)
NM_181523.3(PIK3R1):c.162C>T (p.Gly54=)
NM_181523.3(PIK3R1):c.1633T>C (p.Leu545=) rs1227172617
NM_181523.3(PIK3R1):c.1650_1674del (p.Lys551fs)
NM_181523.3(PIK3R1):c.1665G>A (p.Glu555=) rs200936785
NM_181523.3(PIK3R1):c.1670G>A (p.Arg557Gln) rs2112275807
NM_181523.3(PIK3R1):c.1676T>C (p.Ile559Thr)
NM_181523.3(PIK3R1):c.1683A>G (p.Lys561=) rs1747643900
NM_181523.3(PIK3R1):c.1692C>G (p.Asn564Lys) rs773686816
NM_181523.3(PIK3R1):c.1695C>T (p.Ser565=)
NM_181523.3(PIK3R1):c.1703C>A (p.Pro568Gln)
NM_181523.3(PIK3R1):c.1704A>T (p.Pro568=) rs1580265568
NM_181523.3(PIK3R1):c.1708C>T (p.Leu570Phe)
NM_181523.3(PIK3R1):c.170A>G (p.Asn57Ser) rs1580173662
NM_181523.3(PIK3R1):c.1710dup (p.Ile571fs) rs1561299903
NM_181523.3(PIK3R1):c.1719G>A (p.Leu573=)
NM_181523.3(PIK3R1):c.1728G>A (p.Thr576=) rs149090706
NM_181523.3(PIK3R1):c.1728G>T (p.Thr576=) rs149090706
NM_181523.3(PIK3R1):c.1745+14A>G rs1321466058
NM_181523.3(PIK3R1):c.1745+18A>G
NM_181523.3(PIK3R1):c.1745+5G>A rs1747649223
NM_181523.3(PIK3R1):c.1745T>C (p.Met582Thr)
NM_181523.3(PIK3R1):c.1746-9G>C
NM_181523.3(PIK3R1):c.1758A>G (p.Gln586=) rs1349813143
NM_181523.3(PIK3R1):c.1796G>A (p.Gly599Asp)
NM_181523.3(PIK3R1):c.1814+6T>G
NM_181523.3(PIK3R1):c.1814+8G>T
NM_181523.3(PIK3R1):c.1815-10G>A rs2112282588
NM_181523.3(PIK3R1):c.1815-12C>T
NM_181523.3(PIK3R1):c.1815-17_1815-16del
NM_181523.3(PIK3R1):c.1815-6_1815-3del rs1430970566
NM_181523.3(PIK3R1):c.1819T>C (p.Tyr607His)
NM_181523.3(PIK3R1):c.183A>T (p.Glu61Asp)
NM_181523.3(PIK3R1):c.1844A>T (p.Asp615Val) rs1747703922
NM_181523.3(PIK3R1):c.185C>T (p.Thr62Ile) rs1744294827
NM_181523.3(PIK3R1):c.1860T>G (p.Asp620Glu)
NM_181523.3(PIK3R1):c.1861G>A (p.Glu621Lys) rs1376376979
NM_181523.3(PIK3R1):c.1875T>C (p.Asn625=)
NM_181523.3(PIK3R1):c.1891C>A (p.Arg631=)
NM_181523.3(PIK3R1):c.1912T>C (p.Leu638=) rs1580267244
NM_181523.3(PIK3R1):c.1914G>A (p.Leu638=)
NM_181523.3(PIK3R1):c.1921_1931del (p.Lys641fs) rs1747708267
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) rs397515453
NM_181523.3(PIK3R1):c.1946G>A (p.Arg649Gln)
NM_181523.3(PIK3R1):c.1948G>A (p.Glu650Lys)
NM_181523.3(PIK3R1):c.1962G>C (p.Gln654His)
NM_181523.3(PIK3R1):c.1985+11C>T
NM_181523.3(PIK3R1):c.1985+19C>A
NM_181523.3(PIK3R1):c.1985+19C>T
NM_181523.3(PIK3R1):c.1985+3A>G
NM_181523.3(PIK3R1):c.1985+4T>G
NM_181523.3(PIK3R1):c.1985+7A>G rs781079021
NM_181523.3(PIK3R1):c.1986-11C>T
NM_181523.3(PIK3R1):c.1986-17T>C rs1254104173
NM_181523.3(PIK3R1):c.1986-19T>C rs2112289925
NM_181523.3(PIK3R1):c.1986-31_1986-19del rs2112289847
NM_181523.3(PIK3R1):c.1987G>A (p.Val663Met) rs1747782919
NM_181523.3(PIK3R1):c.198G>A (p.Arg66=)
NM_181523.3(PIK3R1):c.1992C>G (p.Asp664Glu)
NM_181523.3(PIK3R1):c.1992C>T (p.Asp664=)
NM_181523.3(PIK3R1):c.2006A>G (p.His669Arg) rs1747784886
NM_181523.3(PIK3R1):c.200G>A (p.Gly67Glu) rs1744296159
NM_181523.3(PIK3R1):c.2011_2012del (p.Val671fs) rs1747785071
NM_181523.3(PIK3R1):c.2014A>G (p.Ile672Val) rs764638492
NM_181523.3(PIK3R1):c.2026G>A (p.Ala676Thr) rs1747786981
NM_181523.3(PIK3R1):c.202G>A (p.Asp68Asn) rs755043940
NM_181523.3(PIK3R1):c.2040C>G (p.Gly680=) rs1747788048
NM_181523.3(PIK3R1):c.2056A>C (p.Asn686His) rs2112291384
NM_181523.3(PIK3R1):c.207T>C (p.Phe69=)
NM_181523.3(PIK3R1):c.207T>G (p.Phe69Leu)
NM_181523.3(PIK3R1):c.2091T>G (p.His697Gln)
NM_181523.3(PIK3R1):c.209C>T (p.Pro70Leu) rs910474484
NM_181523.3(PIK3R1):c.210G>A (p.Pro70=) rs149852476
NM_181523.3(PIK3R1):c.2115G>A (p.Gln705=)
NM_181523.3(PIK3R1):c.2136C>A (p.Val712=) rs2112293555
NM_181523.3(PIK3R1):c.213A>C (p.Gly71=)
NM_181523.3(PIK3R1):c.2147A>T (p.Tyr716Phe)
NM_181523.3(PIK3R1):c.2155T>A (p.Tyr719Asn) rs1747798069
NM_181523.3(PIK3R1):c.2166G>A (p.Gln722=)
NM_181523.3(PIK3R1):c.2170C>T (p.Arg724Ter) rs764019194
NM_181523.3(PIK3R1):c.2171G>A (p.Arg724Gln)
NM_181523.3(PIK3R1):c.225A>G (p.Glu75=)
NM_181523.3(PIK3R1):c.248C>T (p.Ser83Leu)
NM_181523.3(PIK3R1):c.251C>G (p.Pro84Arg) rs772928652
NM_181523.3(PIK3R1):c.257C>T (p.Thr86Ile) rs1744300386
NM_181523.3(PIK3R1):c.25A>C (p.Arg9=)
NM_181523.3(PIK3R1):c.264G>A (p.Lys88=)
NM_181523.3(PIK3R1):c.267C>T (p.Pro89=)
NM_181523.3(PIK3R1):c.268C>T (p.Arg90Trp)
NM_181523.3(PIK3R1):c.275C>G (p.Pro92Arg)
NM_181523.3(PIK3R1):c.278G>A (p.Arg93Gln) rs765266397
NM_181523.3(PIK3R1):c.299G>C (p.Gly100Ala)
NM_181523.3(PIK3R1):c.30G>A (p.Ala10=)
NM_181523.3(PIK3R1):c.318A>G (p.Ala106=)
NM_181523.3(PIK3R1):c.319G>C (p.Asp107His)
NM_181523.3(PIK3R1):c.328CAA[1] (p.Gln111del)
NM_181523.3(PIK3R1):c.332A>G (p.Gln111Arg) rs575423347
NM_181523.3(PIK3R1):c.334+14_334+15delinsCA rs2111966143
NM_181523.3(PIK3R1):c.334+18G>C
NM_181523.3(PIK3R1):c.334+4_334+9del rs1219959578
NM_181523.3(PIK3R1):c.334+7A>G
NM_181523.3(PIK3R1):c.335-15T>G
NM_181523.3(PIK3R1):c.335-3C>T
NM_181523.3(PIK3R1):c.33G>A (p.Leu11=)
NM_181523.3(PIK3R1):c.341C>T (p.Thr114Ile)
NM_181523.3(PIK3R1):c.343C>G (p.Leu115Val) rs763574306
NM_181523.3(PIK3R1):c.343C>T (p.Leu115Phe) rs763574306
NM_181523.3(PIK3R1):c.351T>C (p.Asp117=) rs2112164402
NM_181523.3(PIK3R1):c.369C>A (p.Ala123=) rs2112164504
NM_181523.3(PIK3R1):c.374C>G (p.Pro125Arg)
NM_181523.3(PIK3R1):c.376G>A (p.Asp126Asn)
NM_181523.3(PIK3R1):c.386C>T (p.Pro129Leu)
NM_181523.3(PIK3R1):c.398T>C (p.Ile133Thr)
NM_181523.3(PIK3R1):c.403C>T (p.Leu135Phe) rs2112164735
NM_181523.3(PIK3R1):c.406G>A (p.Val136Met) rs539374043
NM_181523.3(PIK3R1):c.406G>C (p.Val136Leu) rs539374043
NM_181523.3(PIK3R1):c.413C>G (p.Ala138Gly)
NM_181523.3(PIK3R1):c.414C>A (p.Ala138=)
NM_181523.3(PIK3R1):c.427+6C>G
NM_181523.3(PIK3R1):c.428-6T>C rs1746468268
NM_181523.3(PIK3R1):c.450C>G (p.Tyr150Ter) rs1339790364
NM_181523.3(PIK3R1):c.451A>G (p.Arg151Gly)
NM_181523.3(PIK3R1):c.455C>A (p.Thr152Lys)
NM_181523.3(PIK3R1):c.468C>T (p.Ser156=)
NM_181523.3(PIK3R1):c.485G>T (p.Arg162Leu) rs755300178
NM_181523.3(PIK3R1):c.502+6T>C rs2112167267
NM_181523.3(PIK3R1):c.502G>A (p.Asp168Asn)
NM_181523.3(PIK3R1):c.503-5C>T
NM_181523.3(PIK3R1):c.505A>G (p.Thr169Ala)
NM_181523.3(PIK3R1):c.510C>G (p.Pro170=)
NM_181523.3(PIK3R1):c.511T>C (p.Ser171Pro) rs1440086188
NM_181523.3(PIK3R1):c.517G>A (p.Asp173Asn)
NM_181523.3(PIK3R1):c.517G>T (p.Asp173Tyr)
NM_181523.3(PIK3R1):c.531C>T (p.Ile177=) rs559414629
NM_181523.3(PIK3R1):c.532G>A (p.Asp178Asn)
NM_181523.3(PIK3R1):c.532G>T (p.Asp178Tyr)
NM_181523.3(PIK3R1):c.535G>A (p.Val179Met)
NM_181523.3(PIK3R1):c.549T>C (p.Ala183=)
NM_181523.3(PIK3R1):c.554C>T (p.Ala185Val) rs1264292969
NM_181523.3(PIK3R1):c.566A>T (p.Tyr189Phe) rs1237204595
NM_181523.3(PIK3R1):c.568C>A (p.Leu190Ile)
NM_181523.3(PIK3R1):c.580C>A (p.Pro194Thr) rs781181630
NM_181523.3(PIK3R1):c.580C>G (p.Pro194Ala)
NM_181523.3(PIK3R1):c.603C>T (p.Ala201=) rs780278854
NM_181523.3(PIK3R1):c.607T>C (p.Tyr203His)
NM_181523.3(PIK3R1):c.629C>T (p.Ala210Val)
NM_181523.3(PIK3R1):c.634+11T>G rs1287288917
NM_181523.3(PIK3R1):c.634+82A>G
NM_181523.3(PIK3R1):c.634+8T>C rs368138177
NM_181523.3(PIK3R1):c.635-10A>T
NM_181523.3(PIK3R1):c.635-4G>A rs1262336304
NM_181523.3(PIK3R1):c.635-7C>G rs1561289181
NM_181523.3(PIK3R1):c.637G>A (p.Val213Ile)
NM_181523.3(PIK3R1):c.648C>T (p.Ser216=) rs575150982
NM_181523.3(PIK3R1):c.649G>A (p.Glu217Lys) rs540361957
NM_181523.3(PIK3R1):c.656A>G (p.Tyr219Cys)
NM_181523.3(PIK3R1):c.657T>C (p.Tyr219=)
NM_181523.3(PIK3R1):c.658A>T (p.Ile220Phe)
NM_181523.3(PIK3R1):c.661C>T (p.Gln221Ter) rs1746792277
NM_181523.3(PIK3R1):c.676C>G (p.Leu226Val) rs1746792752
NM_181523.3(PIK3R1):c.680T>G (p.Ile227Ser)
NM_181523.3(PIK3R1):c.684G>A (p.Arg228=)
NM_181523.3(PIK3R1):c.686C>T (p.Ser229Leu) rs201598843
NM_181523.3(PIK3R1):c.699T>G (p.Pro233=)
NM_181523.3(PIK3R1):c.701A>G (p.His234Arg) rs746719882
NM_181523.3(PIK3R1):c.708T>C (p.Tyr236=)
NM_181523.3(PIK3R1):c.716C>A (p.Thr239Lys) rs141981005
NM_181523.3(PIK3R1):c.722A>T (p.Gln241Leu) rs1746794995
NM_181523.3(PIK3R1):c.723G>A (p.Gln241=)
NM_181523.3(PIK3R1):c.736C>A (p.His246Asn) rs2112195478
NM_181523.3(PIK3R1):c.742T>C (p.Phe248Leu)
NM_181523.3(PIK3R1):c.746A>G (p.Lys249Arg)
NM_181523.3(PIK3R1):c.753T>C (p.Ser251=)
NM_181523.3(PIK3R1):c.759C>G (p.Thr253=) rs2112195690
NM_181523.3(PIK3R1):c.769A>C (p.Asn257His) rs1746797117
NM_181523.3(PIK3R1):c.785G>C (p.Arg262Thr) rs2112195809
NM_181523.3(PIK3R1):c.800T>A (p.Ile267Asn) rs2112195905
NM_181523.3(PIK3R1):c.811A>G (p.Met271Val)
NM_181523.3(PIK3R1):c.814C>T (p.Leu272Phe) rs2112196013
NM_181523.3(PIK3R1):c.820A>G (p.Arg274Gly)
NM_181523.3(PIK3R1):c.836+14G>A
NM_181523.3(PIK3R1):c.836+8A>G rs1746799191
NM_181523.3(PIK3R1):c.837-13C>A
NM_181523.3(PIK3R1):c.837-13C>T rs3730085
NM_181523.3(PIK3R1):c.837-7C>T rs571365105
NM_181523.3(PIK3R1):c.842A>G (p.Asp281Gly)
NM_181523.3(PIK3R1):c.845A>G (p.Asn282Ser)
NM_181523.3(PIK3R1):c.854A>G (p.Asn285Ser) rs2112196978
NM_181523.3(PIK3R1):c.855C>G (p.Asn285Lys)
NM_181523.3(PIK3R1):c.858C>T (p.Leu286=)
NM_181523.3(PIK3R1):c.88T>C (p.Leu30=) rs2111963982
NM_181523.3(PIK3R1):c.893G>A (p.Trp298Ter) rs397509384
NM_181523.3(PIK3R1):c.898G>A (p.Glu300Lys)
NM_181523.3(PIK3R1):c.901C>T (p.Arg301Ter) rs367669362
NM_181523.3(PIK3R1):c.902G>A (p.Arg301Gln)
NM_181523.3(PIK3R1):c.909T>C (p.Pro303=)
NM_181523.3(PIK3R1):c.913C>G (p.Pro305Ala)
NM_181523.3(PIK3R1):c.913C>T (p.Pro305Ser)
NM_181523.3(PIK3R1):c.916+15G>T
NM_181523.3(PIK3R1):c.916+18T>G rs2112197494
NM_181523.3(PIK3R1):c.916+2T>C
NM_181523.3(PIK3R1):c.916+9T>G
NM_181523.3(PIK3R1):c.917-14_917-9del rs2112244267
NM_181523.3(PIK3R1):c.917-5T>A
NM_181523.3(PIK3R1):c.918A>G (p.Ala306=)
NM_181523.3(PIK3R1):c.936A>C (p.Pro312=)
NM_181523.3(PIK3R1):c.949G>A (p.Val317Ile)
NM_181523.3(PIK3R1):c.953C>T (p.Ala318Val)
NM_181523.3(PIK3R1):c.956A>G (p.Asn319Ser)
NM_181523.3(PIK3R1):c.959A>G (p.Asn320Ser) rs1747439245
NM_181523.3(PIK3R1):c.965del (p.Met322fs) rs1580260232
NM_181523.3(PIK3R1):c.967_978del (p.Asn323_Met326del) rs1747439770
NM_181523.3(PIK3R1):c.969T>C (p.Asn323=)
NM_181523.3(PIK3R1):c.974A>G (p.Asn325Ser) rs1452312514
NM_181523.3(PIK3R1):c.978G>C (p.Met326Ile) rs3730089

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