ClinVar Miner

List of variants reported as likely benign for activated PI3K-delta syndrome by Invitae

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 565
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HGVS dbSNP gnomAD frequency
NM_181523.3(PIK3R1):c.427+5C>A rs375394677 0.00088
NM_005026.5(PIK3CD):c.2873G>A (p.Gly958Asp) rs142907633 0.00063
NM_005026.5(PIK3CD):c.2314G>A (p.Gly772Ser) rs149376192 0.00048
NM_005026.5(PIK3CD):c.449C>T (p.Ala150Val) rs201492009 0.00044
NM_005026.5(PIK3CD):c.930+10C>T rs771792085 0.00041
NM_005026.5(PIK3CD):c.2265G>A (p.Lys755=) rs139778709 0.00035
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_005026.5(PIK3CD):c.2571C>T (p.Asn857=) rs143575165 0.00026
NM_005026.5(PIK3CD):c.3024G>A (p.Glu1008=) rs146664456 0.00026
NM_181523.3(PIK3R1):c.917-1513G>T rs144312303 0.00026
NM_005026.5(PIK3CD):c.1108G>A (p.Val370Met) rs143521812 0.00025
NM_005026.5(PIK3CD):c.2454C>T (p.Thr818=) rs140234838 0.00024
NM_005026.5(PIK3CD):c.931-19C>G rs373116206 0.00022
NM_005026.5(PIK3CD):c.1309C>T (p.Arg437Cys) rs28730673 0.00021
NM_181523.3(PIK3R1):c.1920G>A (p.Gly640=) rs61749602 0.00021
NM_005026.5(PIK3CD):c.1242+15C>T rs372679083 0.00020
NM_005026.5(PIK3CD):c.2235-18C>T rs190144154 0.00018
NM_005026.5(PIK3CD):c.1542C>T (p.Ile514=) rs138470050 0.00017
NM_181523.3(PIK3R1):c.1020-19T>C rs373504515 0.00017
NM_005026.5(PIK3CD):c.897G>A (p.Pro299=) rs149279787 0.00016
NM_005026.5(PIK3CD):c.1350C>T (p.Gly450=) rs149764166 0.00015
NM_181523.3(PIK3R1):c.334+18G>A rs181402217 0.00015
NM_005026.5(PIK3CD):c.1459G>A (p.Ala487Thr) rs201282174 0.00014
NM_005026.5(PIK3CD):c.2631C>G (p.Leu877=) rs368751278 0.00014
NM_005026.5(PIK3CD):c.156C>T (p.Arg52=) rs558577650 0.00013
NM_005026.5(PIK3CD):c.24C>A (p.Pro8=) rs145290703 0.00013
NM_005026.5(PIK3CD):c.2676C>T (p.Gly892=) rs139941605 0.00013
NM_005026.5(PIK3CD):c.720G>A (p.Thr240=) rs376290726 0.00013
NM_005026.5(PIK3CD):c.1131C>T (p.Phe377=) rs113124534 0.00011
NM_005026.5(PIK3CD):c.780+9G>A rs200867219 0.00011
NM_181523.3(PIK3R1):c.335-17G>T rs201772482 0.00011
NM_005026.5(PIK3CD):c.2426+16C>A rs371461473 0.00010
NM_005026.5(PIK3CD):c.370+20C>T rs370926559 0.00010
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_005026.5(PIK3CD):c.1486C>A (p.Arg496=) rs903288945 0.00009
NM_005026.5(PIK3CD):c.1726G>A (p.Val576Ile) rs199549932 0.00009
NM_005026.5(PIK3CD):c.2234+15C>T rs368394850 0.00009
NM_005026.5(PIK3CD):c.2719-7C>T rs199593360 0.00009
NM_005026.5(PIK3CD):c.2997+10G>A rs377699493 0.00009
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_005026.5(PIK3CD):c.1020+13G>A rs377072140 0.00008
NM_005026.5(PIK3CD):c.1227G>A (p.Lys409=) rs145985960 0.00008
NM_005026.5(PIK3CD):c.2592G>A (p.Pro864=) rs201426574 0.00008
NM_005026.5(PIK3CD):c.2661T>C (p.Tyr887=) rs148030152 0.00008
NM_181523.3(PIK3R1):c.1119-9T>C rs369244066 0.00008
NM_181523.3(PIK3R1):c.1482T>C (p.Phe494=) rs776598336 0.00008
NM_005026.5(PIK3CD):c.231G>A (p.Ala77=) rs756139699 0.00007
NM_005026.5(PIK3CD):c.2340C>T (p.Asn780=) rs112529690 0.00007
NM_005026.5(PIK3CD):c.2745T>C (p.Phe915=) rs768710822 0.00007
NM_005026.5(PIK3CD):c.633C>T (p.Asp211=) rs757257476 0.00007
NM_005026.5(PIK3CD):c.999G>A (p.Val333=) rs142215538 0.00007
NM_005026.5(PIK3CD):c.1339+17G>A rs370327350 0.00006
NM_005026.5(PIK3CD):c.2544C>T (p.Ala848=) rs144576067 0.00006
NM_005026.5(PIK3CD):c.291C>T (p.Pro97=) rs371336444 0.00006
NM_181523.3(PIK3R1):c.888T>G (p.Thr296=) rs1420907388 0.00006
NM_005026.5(PIK3CD):c.1212T>C (p.Ala404=) rs375505004 0.00005
NM_005026.5(PIK3CD):c.1512C>T (p.Thr504=) rs1557668655 0.00005
NM_005026.5(PIK3CD):c.1881C>T (p.Cys627=) rs781606420 0.00005
NM_005026.5(PIK3CD):c.1955+15C>T rs186998116 0.00005
NM_005026.5(PIK3CD):c.2781C>T (p.Arg927=) rs772251920 0.00005
NM_005026.5(PIK3CD):c.930+11G>A rs372023382 0.00005
NM_181523.3(PIK3R1):c.305C>T (p.Ser102Leu) rs368742778 0.00005
NM_005026.5(PIK3CD):c.141+15C>T rs753713947 0.00004
NM_005026.5(PIK3CD):c.1470+19G>A rs373478602 0.00004
NM_005026.5(PIK3CD):c.1521+12G>A rs1045173798 0.00004
NM_005026.5(PIK3CD):c.1959C>T (p.Ser653=) rs536302735 0.00004
NM_005026.5(PIK3CD):c.2100G>A (p.Lys700=) rs1000657997 0.00004
NM_005026.5(PIK3CD):c.2899C>T (p.Leu967=) rs762613598 0.00004
NM_005026.5(PIK3CD):c.2949G>A (p.Ala983=) rs527893231 0.00004
NM_005026.5(PIK3CD):c.2997+9C>T rs746376416 0.00004
NM_005026.5(PIK3CD):c.2998-19C>T rs766219239 0.00004
NM_005026.5(PIK3CD):c.522G>A (p.Ser174=) rs372837939 0.00004
NM_005026.5(PIK3CD):c.57C>T (p.Ser19=) rs376606452 0.00004
NM_181523.3(PIK3R1):c.1056C>T (p.Asp352=) rs144238662 0.00004
NM_181523.3(PIK3R1):c.552C>T (p.Asp184=) rs374140006 0.00004
NM_181523.3(PIK3R1):c.717G>A (p.Thr239=) rs745860837 0.00004
NM_005026.5(PIK3CD):c.1011G>A (p.Glu337=) rs746707652 0.00003
NM_005026.5(PIK3CD):c.1014G>A (p.Arg338=) rs768748041 0.00003
NM_005026.5(PIK3CD):c.1179G>A (p.Ala393=) rs763087095 0.00003
NM_005026.5(PIK3CD):c.1353G>A (p.Glu451=) rs147088845 0.00003
NM_005026.5(PIK3CD):c.138G>A (p.Lys46=) rs749939527 0.00003
NM_005026.5(PIK3CD):c.1503G>A (p.Val501=) rs577709153 0.00003
NM_005026.5(PIK3CD):c.1716G>A (p.Pro572=) rs780188245 0.00003
NM_005026.5(PIK3CD):c.1992C>T (p.Phe664=) rs555070504 0.00003
NM_005026.5(PIK3CD):c.2235-17G>A rs760680625 0.00003
NM_005026.5(PIK3CD):c.2313C>T (p.Gly771=) rs769073614 0.00003
NM_005026.5(PIK3CD):c.2426+9C>A rs1347046772 0.00003
NM_005026.5(PIK3CD):c.371-4G>A rs775036315 0.00003
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.513C>T (p.Ser171=) rs781475250 0.00003
NM_005026.5(PIK3CD):c.1008C>T (p.Asp336=) rs778249568 0.00002
NM_005026.5(PIK3CD):c.1188C>T (p.Ala396=) rs144635462 0.00002
NM_005026.5(PIK3CD):c.1209G>A (p.Lys403=) rs753363954 0.00002
NM_005026.5(PIK3CD):c.1340-6G>A rs750252742 0.00002
NM_005026.5(PIK3CD):c.141+16G>A rs753609009 0.00002
NM_005026.5(PIK3CD):c.1446C>T (p.Pro482=) rs764261934 0.00002
NM_005026.5(PIK3CD):c.1522-10C>T rs532059953 0.00002
NM_005026.5(PIK3CD):c.1522-15G>C rs760799238 0.00002
NM_005026.5(PIK3CD):c.1689+14C>T rs547520693 0.00002
NM_005026.5(PIK3CD):c.1690-13C>T rs762120007 0.00002
NM_005026.5(PIK3CD):c.1734C>T (p.Ser578=) rs541094509 0.00002
NM_005026.5(PIK3CD):c.1983C>T (p.Ala661=) rs771457935 0.00002
NM_005026.5(PIK3CD):c.2043G>A (p.Val681=) rs767467135 0.00002
NM_005026.5(PIK3CD):c.2718+20C>T rs533834224 0.00002
NM_005026.5(PIK3CD):c.2754T>C (p.Asn918=) rs143846503 0.00002
NM_005026.5(PIK3CD):c.2763C>T (p.Thr921=) rs748275524 0.00002
NM_005026.5(PIK3CD):c.450G>A (p.Ala150=) rs757650225 0.00002
NM_005026.5(PIK3CD):c.453C>T (p.Ala151=) rs369860279 0.00002
NM_005026.5(PIK3CD):c.732C>T (p.Asn244=) rs751020278 0.00002
NM_005026.5(PIK3CD):c.765G>A (p.Pro255=) rs928182057 0.00002
NM_005026.5(PIK3CD):c.780+8C>T rs541784762 0.00002
NM_181523.3(PIK3R1):c.405C>T (p.Leu135=) rs758397455 0.00002
NM_005026.5(PIK3CD):c.1053C>T (p.Asn351=) rs776959413 0.00001
NM_005026.5(PIK3CD):c.1065C>T (p.Cys355=) rs770064539 0.00001
NM_005026.5(PIK3CD):c.1146C>T (p.Cys382=) rs746151747 0.00001
NM_005026.5(PIK3CD):c.114C>T (p.Arg38=) rs767121276 0.00001
NM_005026.5(PIK3CD):c.1224G>A (p.Lys408=) rs573113022 0.00001
NM_005026.5(PIK3CD):c.1243-5T>C rs1476300761 0.00001
NM_005026.5(PIK3CD):c.1251C>T (p.Pro417=) rs113023172 0.00001
NM_005026.5(PIK3CD):c.1290C>T (p.Asp430=) rs748134247 0.00001
NM_005026.5(PIK3CD):c.1340-12C>T rs767519516 0.00001
NM_005026.5(PIK3CD):c.1347G>A (p.Lys449=) rs376093013 0.00001
NM_005026.5(PIK3CD):c.1368G>A (p.Thr456=) rs141809100 0.00001
NM_005026.5(PIK3CD):c.1401C>T (p.Ser467=) rs200295565 0.00001
NM_005026.5(PIK3CD):c.141+13T>C rs780068298 0.00001
NM_005026.5(PIK3CD):c.142-18C>T rs769114762 0.00001
NM_005026.5(PIK3CD):c.1440G>A (p.Pro480=) rs374803520 0.00001
NM_005026.5(PIK3CD):c.1458C>T (p.Pro486=) rs757377156 0.00001
NM_005026.5(PIK3CD):c.1470+18C>T rs1004233476 0.00001
NM_005026.5(PIK3CD):c.1533G>A (p.Leu511=) rs550395550 0.00001
NM_005026.5(PIK3CD):c.1602G>A (p.Leu534=) rs112862628 0.00001
NM_005026.5(PIK3CD):c.1626C>T (p.Phe542=) rs771209593 0.00001
NM_005026.5(PIK3CD):c.1641C>G (p.Ala547=) rs1404901928 0.00001
NM_005026.5(PIK3CD):c.1689+10G>C rs1165564211 0.00001
NM_005026.5(PIK3CD):c.1902G>C (p.Leu634=) rs775172291 0.00001
NM_005026.5(PIK3CD):c.1929C>T (p.Ile643=) rs1162906502 0.00001
NM_005026.5(PIK3CD):c.1955+13G>C rs914584237 0.00001
NM_005026.5(PIK3CD):c.1956-18C>T rs1277108902 0.00001
NM_005026.5(PIK3CD):c.2055+19G>T rs752258456 0.00001
NM_005026.5(PIK3CD):c.2055+9C>T rs766867573 0.00001
NM_005026.5(PIK3CD):c.2056-18C>T rs1371278455 0.00001
NM_005026.5(PIK3CD):c.2205C>T (p.Leu735=) rs766999562 0.00001
NM_005026.5(PIK3CD):c.2348-15C>T rs763935039 0.00001
NM_005026.5(PIK3CD):c.2463C>T (p.Arg821=) rs372847419 0.00001
NM_005026.5(PIK3CD):c.2502C>T (p.Ile834=) rs573418132 0.00001
NM_005026.5(PIK3CD):c.2547C>T (p.Ala849=) rs1648971857 0.00001
NM_005026.5(PIK3CD):c.2688C>T (p.Ser896=) rs777576647 0.00001
NM_005026.5(PIK3CD):c.2805C>T (p.Thr935=) rs538974291 0.00001
NM_005026.5(PIK3CD):c.2823G>C (p.Val941=) rs752373388 0.00001
NM_005026.5(PIK3CD):c.2865-13C>T rs750348816 0.00001
NM_005026.5(PIK3CD):c.2922C>T (p.Phe974=) rs753648373 0.00001
NM_005026.5(PIK3CD):c.2973C>T (p.Cys991=) rs549586919 0.00001
NM_005026.5(PIK3CD):c.321C>T (p.Asp107=) rs1017772805 0.00001
NM_005026.5(PIK3CD):c.324C>T (p.Arg108=) rs540840239 0.00001
NM_005026.5(PIK3CD):c.357C>T (p.Leu119=) rs755510703 0.00001
NM_005026.5(PIK3CD):c.371-4G>T rs775036315 0.00001
NM_005026.5(PIK3CD):c.371-6C>T rs1423778949 0.00001
NM_005026.5(PIK3CD):c.39C>G (p.Thr13=) rs771088388 0.00001
NM_005026.5(PIK3CD):c.420C>T (p.Arg140=) rs998200055 0.00001
NM_005026.5(PIK3CD):c.4C>A (p.Pro2Thr) rs541082914 0.00001
NM_005026.5(PIK3CD):c.600+17C>T rs750783205 0.00001
NM_005026.5(PIK3CD):c.601-18C>A rs1011774127 0.00001
NM_005026.5(PIK3CD):c.640C>T (p.Leu214=) rs1285730929 0.00001
NM_005026.5(PIK3CD):c.781-17C>T rs781221321 0.00001
NM_005026.5(PIK3CD):c.781-7G>A rs770192569 0.00001
NM_005026.5(PIK3CD):c.781-8C>T rs746443536 0.00001
NM_005026.5(PIK3CD):c.931-10C>T rs553438382 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.1194C>T (p.Phe398=) rs755664296 0.00001
NM_181523.3(PIK3R1):c.1300-10A>T rs377666209 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.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.2046C>T (p.Ala682=) rs779578323 0.00001
NM_181523.3(PIK3R1):c.2100C>T (p.His700=) rs1438509498 0.00001
NM_181523.3(PIK3R1):c.2139A>G (p.Thr713=) rs1454328791 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.348G>A (p.Pro116=) rs762006134 0.00001
NM_181523.3(PIK3R1):c.387G>A (p.Pro129=) rs201402919 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.540C>T (p.His180=) rs529029580 0.00001
NM_181523.3(PIK3R1):c.567T>C (p.Tyr189=) rs778360098 0.00001
NM_181523.3(PIK3R1):c.609C>T (p.Tyr203=) rs1331105445 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.768A>G (p.Lys256=) rs1746797017 0.00001
NM_181523.3(PIK3R1):c.837-11C>T rs1226781279 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_005026.5(PIK3CD):c.1012C>A (p.Arg338=)
NM_005026.5(PIK3CD):c.1020+9C>T
NM_005026.5(PIK3CD):c.1021-16C>T
NM_005026.5(PIK3CD):c.1021-17C>A rs2100906404
NM_005026.5(PIK3CD):c.1021-17C>G rs2100906404
NM_005026.5(PIK3CD):c.1021-9C>T
NM_005026.5(PIK3CD):c.1029G>A (p.Val343=) rs1385002426
NM_005026.5(PIK3CD):c.105T>G (p.Pro35=) rs1311974494
NM_005026.5(PIK3CD):c.1073T>C (p.Val358Ala)
NM_005026.5(PIK3CD):c.1083G>A (p.Ser361=)
NM_005026.5(PIK3CD):c.1083G>C (p.Ser361=) rs1001849803
NM_005026.5(PIK3CD):c.1083G>T (p.Ser361=) rs1001849803
NM_005026.5(PIK3CD):c.1092C>T (p.Ser364=) rs774630166
NM_005026.5(PIK3CD):c.1101G>A (p.Ser367=) rs750134067
NM_005026.5(PIK3CD):c.1179G>T (p.Ala393=)
NM_005026.5(PIK3CD):c.1185C>T (p.Tyr395=)
NM_005026.5(PIK3CD):c.1188C>G (p.Ala396=)
NM_005026.5(PIK3CD):c.1194C>T (p.Ile398=) rs760322402
NM_005026.5(PIK3CD):c.1242+13G>A rs2100910295
NM_005026.5(PIK3CD):c.1242+16G>A
NM_005026.5(PIK3CD):c.1243-11T>C
NM_005026.5(PIK3CD):c.1243-15C>T
NM_005026.5(PIK3CD):c.1243-9C>T rs2100933627
NM_005026.5(PIK3CD):c.1257C>T (p.Ala419=)
NM_005026.5(PIK3CD):c.1269C>T (p.Leu423=)
NM_005026.5(PIK3CD):c.1284C>T (p.Tyr428=) rs151045167
NM_005026.5(PIK3CD):c.12G>A (p.Gly4=)
NM_005026.5(PIK3CD):c.12G>T (p.Gly4=)
NM_005026.5(PIK3CD):c.1302C>T (p.Thr434=)
NM_005026.5(PIK3CD):c.1332C>A (p.Ser444=) rs574697107
NM_005026.5(PIK3CD):c.1332C>T (p.Ser444=) rs574697107
NM_005026.5(PIK3CD):c.1339+16G>A
NM_005026.5(PIK3CD):c.1339+17G>C rs370327350
NM_005026.5(PIK3CD):c.1339+20G>A
NM_005026.5(PIK3CD):c.1339+8C>T
NM_005026.5(PIK3CD):c.1340-10_1340-9del rs2100937652
NM_005026.5(PIK3CD):c.1354C>T (p.Leu452=) rs2100938056
NM_005026.5(PIK3CD):c.1362C>T (p.Asn454=)
NM_005026.5(PIK3CD):c.1389C>T (p.Pro463=) rs2100938427
NM_005026.5(PIK3CD):c.1395G>A (p.Thr465=)
NM_005026.5(PIK3CD):c.1404C>T (p.Ala468=) rs771683726
NM_005026.5(PIK3CD):c.142-17G>A
NM_005026.5(PIK3CD):c.142-7C>T
NM_005026.5(PIK3CD):c.1428C>T (p.Pro476=)
NM_005026.5(PIK3CD):c.1470+12C>T
NM_005026.5(PIK3CD):c.1470+18C>A
NM_005026.5(PIK3CD):c.1471-11G>A
NM_005026.5(PIK3CD):c.1474T>C (p.Leu492=) rs2100949699
NM_005026.5(PIK3CD):c.1503G>C (p.Val501=) rs577709153
NM_005026.5(PIK3CD):c.1521+10G>C
NM_005026.5(PIK3CD):c.1521+15G>T
NM_005026.5(PIK3CD):c.1521+17T>C
NM_005026.5(PIK3CD):c.1521+19T>G rs766335273
NM_005026.5(PIK3CD):c.1522-16T>C rs772209868
NM_005026.5(PIK3CD):c.1522-16T>G
NM_005026.5(PIK3CD):c.1522-18C>G
NM_005026.5(PIK3CD):c.1578C>T (p.His526=)
NM_005026.5(PIK3CD):c.1605G>C (p.Arg535=)
NM_005026.5(PIK3CD):c.1651C>T (p.Leu551=) rs1648518909
NM_005026.5(PIK3CD):c.1653G>C (p.Leu551=)
NM_005026.5(PIK3CD):c.1656C>T (p.Val552=)
NM_005026.5(PIK3CD):c.165T>C (p.Tyr55=)
NM_005026.5(PIK3CD):c.1662G>A (p.Lys554=)
NM_005026.5(PIK3CD):c.1689+13G>A
NM_005026.5(PIK3CD):c.1689+15G>A
NM_005026.5(PIK3CD):c.1689+16C>T
NM_005026.5(PIK3CD):c.1689+9G>A rs767118563
NM_005026.5(PIK3CD):c.1690-12G>A rs767850407
NM_005026.5(PIK3CD):c.1690-16C>A
NM_005026.5(PIK3CD):c.1690-20C>G
NM_005026.5(PIK3CD):c.1690-4C>G rs371112902
NM_005026.5(PIK3CD):c.1690-4C>T rs371112902
NM_005026.5(PIK3CD):c.1690-5C>G rs772912444
NM_005026.5(PIK3CD):c.1690-6C>T rs879255387
NM_005026.5(PIK3CD):c.1690-7C>T
NM_005026.5(PIK3CD):c.1695C>T (p.Leu565=)
NM_005026.5(PIK3CD):c.171G>A (p.Pro57=) rs373365253
NM_005026.5(PIK3CD):c.171G>T (p.Pro57=) rs373365253
NM_005026.5(PIK3CD):c.1744C>T (p.Leu582=)
NM_005026.5(PIK3CD):c.1758C>T (p.Ser586=)
NM_005026.5(PIK3CD):c.1761C>T (p.Phe587=)
NM_005026.5(PIK3CD):c.1797G>A (p.Ser599=) rs141159861
NM_005026.5(PIK3CD):c.1797G>T (p.Ser599=) rs141159861
NM_005026.5(PIK3CD):c.1803G>A (p.Arg601=)
NM_005026.5(PIK3CD):c.1807C>T (p.Leu603=)
NM_005026.5(PIK3CD):c.1809G>T (p.Leu603=) rs151278626
NM_005026.5(PIK3CD):c.1811+14G>A
NM_005026.5(PIK3CD):c.1811+16G>A
NM_005026.5(PIK3CD):c.1811+17C>T
NM_005026.5(PIK3CD):c.1812-11C>T rs2100966985
NM_005026.5(PIK3CD):c.1812-18C>T
NM_005026.5(PIK3CD):c.1824G>T (p.Leu608=)
NM_005026.5(PIK3CD):c.1845G>A (p.Leu615=)
NM_005026.5(PIK3CD):c.1851G>A (p.Gln617=)
NM_005026.5(PIK3CD):c.186C>G (p.Leu62=) rs1340942614
NM_005026.5(PIK3CD):c.1887G>A (p.Leu629=)
NM_005026.5(PIK3CD):c.1905C>T (p.Asp635=) rs1456414758
NM_005026.5(PIK3CD):c.192C>A (p.Gly64=)
NM_005026.5(PIK3CD):c.1955+20C>A
NM_005026.5(PIK3CD):c.1956-12_1956-10dup rs748807669
NM_005026.5(PIK3CD):c.1956-13C>T
NM_005026.5(PIK3CD):c.1956-15C>G rs757736517
NM_005026.5(PIK3CD):c.195C>G (p.Pro65=) rs752425885
NM_005026.5(PIK3CD):c.1968C>T (p.His656=)
NM_005026.5(PIK3CD):c.1974G>A (p.Pro658=) rs113257776
NM_005026.5(PIK3CD):c.1977G>A (p.Ser659=)
NM_005026.5(PIK3CD):c.2055+18G>T
NM_005026.5(PIK3CD):c.2055+7C>A
NM_005026.5(PIK3CD):c.2056-11C>G
NM_005026.5(PIK3CD):c.2056-6C>A rs2100975055
NM_005026.5(PIK3CD):c.2082C>G (p.Ala694=)
NM_005026.5(PIK3CD):c.2148C>T (p.His716=)
NM_005026.5(PIK3CD):c.2184C>T (p.Leu728=)
NM_005026.5(PIK3CD):c.2193G>C (p.Leu731=)
NM_005026.5(PIK3CD):c.2205C>G (p.Leu735=)
NM_005026.5(PIK3CD):c.2217C>T (p.Thr739=)
NM_005026.5(PIK3CD):c.2234+10A>G rs2100977194
NM_005026.5(PIK3CD):c.2234+16G>A
NM_005026.5(PIK3CD):c.2235-17G>T rs760680625
NM_005026.5(PIK3CD):c.2247C>T (p.Cys749=)
NM_005026.5(PIK3CD):c.2277G>A (p.Leu759=) rs1269924178
NM_005026.5(PIK3CD):c.2295C>T (p.Asn765=) rs972860101
NM_005026.5(PIK3CD):c.2310C>T (p.Ser770=)
NM_005026.5(PIK3CD):c.2347+14C>T
NM_005026.5(PIK3CD):c.2347+18C>T
NM_005026.5(PIK3CD):c.2347+8C>T
NM_005026.5(PIK3CD):c.2348-11C>T
NM_005026.5(PIK3CD):c.2348-13G>C
NM_005026.5(PIK3CD):c.2348-16C>T
NM_005026.5(PIK3CD):c.2348-4A>G
NM_005026.5(PIK3CD):c.234G>A (p.Glu78=) rs1647287735
NM_005026.5(PIK3CD):c.2355G>A (p.Arg785=)
NM_005026.5(PIK3CD):c.2370C>G (p.Thr790=)
NM_005026.5(PIK3CD):c.2370C>T (p.Thr790=)
NM_005026.5(PIK3CD):c.2394C>T (p.Asp798=)
NM_005026.5(PIK3CD):c.2400G>A (p.Leu800=)
NM_005026.5(PIK3CD):c.2426+14C>T
NM_005026.5(PIK3CD):c.2426+19C>T
NM_005026.5(PIK3CD):c.2426+20A>G rs2100982967
NM_005026.5(PIK3CD):c.2427-16C>T
NM_005026.5(PIK3CD):c.2427-20C>A
NM_005026.5(PIK3CD):c.2433C>A (p.Thr811=)
NM_005026.5(PIK3CD):c.2448C>T (p.Leu816=)
NM_005026.5(PIK3CD):c.2550C>T (p.Phe850=)
NM_005026.5(PIK3CD):c.2577G>T (p.Leu859=)
NM_005026.5(PIK3CD):c.2594+10A>G
NM_005026.5(PIK3CD):c.2594+16A>G
NM_005026.5(PIK3CD):c.2594+18G>A
NM_005026.5(PIK3CD):c.2595-4C>A rs551553892
NM_005026.5(PIK3CD):c.2598G>A (p.Glu866=)
NM_005026.5(PIK3CD):c.2602C>T (p.Leu868=) rs2100999040
NM_005026.5(PIK3CD):c.2613C>T (p.Ala871=)
NM_005026.5(PIK3CD):c.261G>A (p.Arg87=)
NM_005026.5(PIK3CD):c.2673T>C (p.Ile891=)
NM_005026.5(PIK3CD):c.2718+16C>A
NM_005026.5(PIK3CD):c.2719-15C>T
NM_005026.5(PIK3CD):c.2719-16T>C
NM_005026.5(PIK3CD):c.2719-17C>T
NM_005026.5(PIK3CD):c.2817C>T (p.Val939=)
NM_005026.5(PIK3CD):c.2838G>A (p.Lys946=) rs1553171834
NM_005026.5(PIK3CD):c.2844T>C (p.Asn948=)
NM_005026.5(PIK3CD):c.2864+12T>C
NM_005026.5(PIK3CD):c.2864+19C>T
NM_005026.5(PIK3CD):c.2864+7G>A
NM_005026.5(PIK3CD):c.2864+7dup
NM_005026.5(PIK3CD):c.2864+9dup rs1649169886
NM_005026.5(PIK3CD):c.2865-4G>A
NM_005026.5(PIK3CD):c.2865-7C>T
NM_005026.5(PIK3CD):c.2877C>T (p.Tyr959=)
NM_005026.5(PIK3CD):c.2892C>T (p.Tyr964=)
NM_005026.5(PIK3CD):c.2910C>T (p.His970=) rs767035763
NM_005026.5(PIK3CD):c.2928C>T (p.His976=) rs2101009278
NM_005026.5(PIK3CD):c.2938C>T (p.Leu980=)
NM_005026.5(PIK3CD):c.2940G>A (p.Leu980=)
NM_005026.5(PIK3CD):c.2944C>A (p.Arg982=)
NM_005026.5(PIK3CD):c.295C>T (p.Leu99=)
NM_005026.5(PIK3CD):c.2964G>A (p.Glu988=) rs1406173891
NM_005026.5(PIK3CD):c.2997+17A>G rs1196117386
NM_005026.5(PIK3CD):c.2998-19del rs777173368
NM_005026.5(PIK3CD):c.300C>A (p.Arg100=) rs2100842031
NM_005026.5(PIK3CD):c.3015G>A (p.Gly1005=)
NM_005026.5(PIK3CD):c.3021A>C (p.Thr1007=)
NM_005026.5(PIK3CD):c.3030G>A (p.Glu1010=) rs2101042594
NM_005026.5(PIK3CD):c.3048A>G (p.Arg1016=)
NM_005026.5(PIK3CD):c.3096C>T (p.Asn1032=)
NM_005026.5(PIK3CD):c.3111C>T (p.Asn1037=)
NM_005026.5(PIK3CD):c.360C>G (p.Leu120=)
NM_005026.5(PIK3CD):c.370+11C>G rs374244384
NM_005026.5(PIK3CD):c.370+11C>T rs374244384
NM_005026.5(PIK3CD):c.370+12G>A rs377356205
NM_005026.5(PIK3CD):c.370+12G>C rs377356205
NM_005026.5(PIK3CD):c.371-10C>A
NM_005026.5(PIK3CD):c.371-16C>A
NM_005026.5(PIK3CD):c.371-5C>G rs149617980
NM_005026.5(PIK3CD):c.371-7C>A
NM_005026.5(PIK3CD):c.371-8C>T rs780672219
NM_005026.5(PIK3CD):c.372C>A (p.Gly124=)
NM_005026.5(PIK3CD):c.372C>T (p.Gly124=)
NM_005026.5(PIK3CD):c.378C>T (p.His126=)
NM_005026.5(PIK3CD):c.396C>T (p.Cys132=)
NM_005026.5(PIK3CD):c.411C>T (p.Asn137=) rs2100845487
NM_005026.5(PIK3CD):c.414C>T (p.Asp138=) rs759769097
NM_005026.5(PIK3CD):c.441C>T (p.Cys147=)
NM_005026.5(PIK3CD):c.447G>A (p.Glu149=) rs944091166
NM_005026.5(PIK3CD):c.504C>T (p.Pro168=)
NM_005026.5(PIK3CD):c.511C>T (p.Leu171=)
NM_005026.5(PIK3CD):c.537G>C (p.Gly179=)
NM_005026.5(PIK3CD):c.537G>T (p.Gly179=) rs1274566720
NM_005026.5(PIK3CD):c.540T>C (p.Pro180=)
NM_005026.5(PIK3CD):c.579C>T (p.Asn193=) rs772893560
NM_005026.5(PIK3CD):c.597C>T (p.Ser199=)
NM_005026.5(PIK3CD):c.600+12C>T
NM_005026.5(PIK3CD):c.612C>T (p.Thr204=)
NM_005026.5(PIK3CD):c.639G>A (p.Pro213=) rs374739511
NM_005026.5(PIK3CD):c.639G>T (p.Pro213=)
NM_005026.5(PIK3CD):c.645G>T (p.Ala215=) rs748293821
NM_005026.5(PIK3CD):c.648G>C (p.Leu216=)
NM_005026.5(PIK3CD):c.657T>C (p.Cys219=)
NM_005026.5(PIK3CD):c.684C>T (p.Phe228=)
NM_005026.5(PIK3CD):c.693G>A (p.Pro231=)
NM_005026.5(PIK3CD):c.699G>A (p.Val233=) rs1160091643
NM_005026.5(PIK3CD):c.69C>T (p.Asp23=)
NM_005026.5(PIK3CD):c.6C>T (p.Pro2=) rs781015405
NM_005026.5(PIK3CD):c.711A>G (p.Glu237=)
NM_005026.5(PIK3CD):c.753T>C (p.Tyr251=)
NM_005026.5(PIK3CD):c.759C>T (p.Ser253=)
NM_005026.5(PIK3CD):c.75G>C (p.Leu25=)
NM_005026.5(PIK3CD):c.76C>T (p.Leu26=) rs2100769556
NM_005026.5(PIK3CD):c.780+16C>G rs1257188196
NM_005026.5(PIK3CD):c.780+7C>T
NM_005026.5(PIK3CD):c.780+9G>T
NM_005026.5(PIK3CD):c.781-20C>T
NM_005026.5(PIK3CD):c.813C>T (p.Thr271=)
NM_005026.5(PIK3CD):c.819C>T (p.His273=)
NM_005026.5(PIK3CD):c.84A>G (p.Thr28=) rs2100769586
NM_005026.5(PIK3CD):c.870C>T (p.Ser290=) rs138485916
NM_005026.5(PIK3CD):c.87G>C (p.Gly29=)
NM_005026.5(PIK3CD):c.906A>G (p.Lys302=) rs2100868848
NM_005026.5(PIK3CD):c.924G>A (p.Ala308=)
NM_005026.5(PIK3CD):c.924G>T (p.Ala308=) rs200639471
NM_005026.5(PIK3CD):c.930+17C>T
NM_005026.5(PIK3CD):c.930+19C>T
NM_005026.5(PIK3CD):c.930+9G>A
NM_005026.5(PIK3CD):c.936C>T (p.Ser312=)
NM_005026.5(PIK3CD):c.945C>T (p.Ser315=)
NM_005026.5(PIK3CD):c.966G>A (p.Pro322=) rs769665281
NM_005026.5(PIK3CD):c.966G>T (p.Pro322=) rs769665281
NM_005026.5(PIK3CD):c.969C>T (p.Phe323=)
NM_005026.5(PIK3CD):c.99C>T (p.Asn33=)
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.1029G>A (p.Val343=) rs1747485112
NM_181523.3(PIK3R1):c.102A>G (p.Lys34=)
NM_181523.3(PIK3R1):c.105G>A (p.Gly35=)
NM_181523.3(PIK3R1):c.1118+11del
NM_181523.3(PIK3R1):c.1119-13A>T
NM_181523.3(PIK3R1):c.1218C>T (p.Asn406=)
NM_181523.3(PIK3R1):c.1224C>T (p.Tyr408=)
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.1396T>C (p.Leu466=) rs754454562
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.1434A>G (p.Gln478=)
NM_181523.3(PIK3R1):c.1464T>C (p.Asn488=)
NM_181523.3(PIK3R1):c.1512C>T (p.Tyr504=) rs1483544920
NM_181523.3(PIK3R1):c.1524C>T (p.Tyr508=)
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.1569-14T>C rs2112273923
NM_181523.3(PIK3R1):c.1569-6C>T
NM_181523.3(PIK3R1):c.162C>T (p.Gly54=)
NM_181523.3(PIK3R1):c.1633T>C (p.Leu545=) rs1227172617
NM_181523.3(PIK3R1):c.1665G>A (p.Glu555=) rs200936785
NM_181523.3(PIK3R1):c.1683A>G (p.Lys561=) rs1747643900
NM_181523.3(PIK3R1):c.1695C>T (p.Ser565=)
NM_181523.3(PIK3R1):c.1704A>T (p.Pro568=) rs1580265568
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.1746-9G>C
NM_181523.3(PIK3R1):c.1814+8G>T
NM_181523.3(PIK3R1):c.1815-10G>A rs2112282588
NM_181523.3(PIK3R1):c.1815-17_1815-16del
NM_181523.3(PIK3R1):c.1815-6_1815-3del rs1430970566
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.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+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.198G>A (p.Arg66=)
NM_181523.3(PIK3R1):c.1992C>T (p.Asp664=)
NM_181523.3(PIK3R1):c.2040C>G (p.Gly680=) rs1747788048
NM_181523.3(PIK3R1):c.207T>C (p.Phe69=)
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.2166G>A (p.Gln722=)
NM_181523.3(PIK3R1):c.225A>G (p.Glu75=)
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.30G>A (p.Ala10=)
NM_181523.3(PIK3R1):c.318A>G (p.Ala106=)
NM_181523.3(PIK3R1):c.334+14_334+15delinsCA rs2111966143
NM_181523.3(PIK3R1):c.334+18G>C
NM_181523.3(PIK3R1):c.334+7A>G
NM_181523.3(PIK3R1):c.33G>A (p.Leu11=)
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.414C>A (p.Ala138=)
NM_181523.3(PIK3R1):c.428-6T>C rs1746468268
NM_181523.3(PIK3R1):c.468C>T (p.Ser156=)
NM_181523.3(PIK3R1):c.503-5C>T
NM_181523.3(PIK3R1):c.510C>G (p.Pro170=)
NM_181523.3(PIK3R1):c.531C>T (p.Ile177=) rs559414629
NM_181523.3(PIK3R1):c.549T>C (p.Ala183=)
NM_181523.3(PIK3R1):c.603C>T (p.Ala201=) rs780278854
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.648C>T (p.Ser216=) rs575150982
NM_181523.3(PIK3R1):c.657T>C (p.Tyr219=)
NM_181523.3(PIK3R1):c.684G>A (p.Arg228=)
NM_181523.3(PIK3R1):c.699T>G (p.Pro233=)
NM_181523.3(PIK3R1):c.708T>C (p.Tyr236=)
NM_181523.3(PIK3R1):c.723G>A (p.Gln241=)
NM_181523.3(PIK3R1):c.753T>C (p.Ser251=)
NM_181523.3(PIK3R1):c.759C>G (p.Thr253=) rs2112195690
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.858C>T (p.Leu286=)
NM_181523.3(PIK3R1):c.88T>C (p.Leu30=) rs2111963982
NM_181523.3(PIK3R1):c.909T>C (p.Pro303=)
NM_181523.3(PIK3R1):c.916+15G>T
NM_181523.3(PIK3R1):c.918A>G (p.Ala306=)
NM_181523.3(PIK3R1):c.936A>C (p.Pro312=)
NM_181523.3(PIK3R1):c.953C>T (p.Ala318Val)
NM_181523.3(PIK3R1):c.969T>C (p.Asn323=)
NM_181523.3(PIK3R1):c.978G>C (p.Met326Ile) rs3730089

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