ClinVar Miner

List of variants in gene PIK3AP1 studied for electroclinical syndrome

Included ClinVar conditions (101):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 392
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HGVS dbSNP gnomAD frequency
NM_152309.3(PIK3AP1):c.1576C>T (p.Leu526=) rs4344416 0.87861
NM_152309.3(PIK3AP1):c.1773G>A (p.Ser591=) rs3748234 0.54017
NM_152309.3(PIK3AP1):c.247G>T (p.Ala83Ser) rs3748229 0.37094
NM_152309.3(PIK3AP1):c.2103T>C (p.Ser701=) rs3748236 0.25229
NM_152309.3(PIK3AP1):c.1913A>G (p.Lys638Arg) rs12784975 0.17461
NM_152309.3(PIK3AP1):c.61G>A (p.Glu21Lys) rs17112076 0.13165
NM_152309.3(PIK3AP1):c.828C>T (p.Ala276=) rs35668691 0.02430
NM_152309.3(PIK3AP1):c.2171-7C>T rs111902593 0.02273
NM_152309.3(PIK3AP1):c.20C>T (p.Pro7Leu) rs73334383 0.01102
NM_152309.3(PIK3AP1):c.1506T>C (p.Asp502=) rs74496843 0.00731
NM_152309.3(PIK3AP1):c.1092G>A (p.Ala364=) rs35035564 0.00647
NM_152309.3(PIK3AP1):c.861T>C (p.Phe287=) rs138990701 0.00235
NM_152309.3(PIK3AP1):c.767G>A (p.Cys256Tyr) rs141221035 0.00177
NM_152309.3(PIK3AP1):c.2076A>G (p.Gly692=) rs141067860 0.00168
NM_152309.3(PIK3AP1):c.217G>T (p.Ala73Ser) rs146527410 0.00156
NM_152309.3(PIK3AP1):c.2337G>A (p.Val779=) rs145459703 0.00152
NM_152309.3(PIK3AP1):c.975A>G (p.Glu325=) rs34642975 0.00150
NM_152309.3(PIK3AP1):c.549G>A (p.Pro183=) rs139678848 0.00086
NM_152309.3(PIK3AP1):c.387G>A (p.Glu129=) rs149682608 0.00075
NM_152309.3(PIK3AP1):c.1806G>A (p.Thr602=) rs147512410 0.00073
NM_152309.3(PIK3AP1):c.471C>T (p.Asp157=) rs117500254 0.00071
NM_152309.3(PIK3AP1):c.2251G>T (p.Val751Phe) rs147376017 0.00069
NM_152309.3(PIK3AP1):c.1412T>A (p.Ile471Asn) rs145525421 0.00062
NM_152309.3(PIK3AP1):c.1651G>A (p.Glu551Lys) rs3748233 0.00050
NM_152309.3(PIK3AP1):c.1551T>C (p.Asp517=) rs142087930 0.00048
NM_152309.3(PIK3AP1):c.1735G>A (p.Gly579Arg) rs144966728 0.00048
NM_152309.3(PIK3AP1):c.1495C>T (p.Leu499=) rs199720844 0.00034
NM_152309.3(PIK3AP1):c.2335G>A (p.Val779Met) rs45587542 0.00032
NM_152309.3(PIK3AP1):c.2379C>T (p.Thr793=) rs201824606 0.00030
NM_152309.3(PIK3AP1):c.2177C>T (p.Thr726Ile) rs113976248 0.00029
NM_152309.3(PIK3AP1):c.774C>T (p.Thr258=) rs199687287 0.00029
NM_152309.3(PIK3AP1):c.1555G>A (p.Asp519Asn) rs370707189 0.00024
NM_152309.3(PIK3AP1):c.1302G>A (p.Ser434=) rs140843691 0.00022
NM_152309.3(PIK3AP1):c.568-16C>T rs369779741 0.00020
NM_152309.3(PIK3AP1):c.989-12G>C rs201975171 0.00019
NM_152309.3(PIK3AP1):c.729C>T (p.Asn243=) rs571900807 0.00017
NM_152309.3(PIK3AP1):c.285G>T (p.Pro95=) rs777298829 0.00016
NM_152309.3(PIK3AP1):c.360T>C (p.His120=) rs549333065 0.00015
NM_152309.3(PIK3AP1):c.1492A>G (p.Asn498Asp) rs746475285 0.00014
NM_152309.3(PIK3AP1):c.508C>A (p.Pro170Thr) rs150666185 0.00014
NM_152309.3(PIK3AP1):c.2120C>T (p.Thr707Met) rs201595275 0.00013
NM_152309.3(PIK3AP1):c.1376-8C>T rs754562989 0.00012
NM_152309.3(PIK3AP1):c.1941+13G>A rs369291853 0.00011
NM_152309.3(PIK3AP1):c.2186G>A (p.Arg729His) rs569632623 0.00010
NM_152309.3(PIK3AP1):c.405A>G (p.Ala135=) rs376969413 0.00008
NM_152309.3(PIK3AP1):c.633G>A (p.Glu211=) rs372013145 0.00008
NM_152309.3(PIK3AP1):c.1077A>G (p.Pro359=) rs751495080 0.00007
NM_152309.3(PIK3AP1):c.112C>T (p.Arg38Cys) rs369732062 0.00007
NM_152309.3(PIK3AP1):c.2242-3T>C rs374054197 0.00007
NM_152309.3(PIK3AP1):c.113G>T (p.Arg38Leu) rs770855063 0.00006
NM_152309.3(PIK3AP1):c.1460A>C (p.Lys487Thr) rs772197733 0.00006
NM_152309.3(PIK3AP1):c.1514A>G (p.His505Arg) rs367935657 0.00006
NM_152309.3(PIK3AP1):c.1693C>T (p.Arg565Trp) rs534613715 0.00006
NM_152309.3(PIK3AP1):c.1744G>A (p.Val582Ile) rs201358424 0.00006
NM_152309.3(PIK3AP1):c.2065G>A (p.Val689Met) rs371865710 0.00006
NM_152309.3(PIK3AP1):c.2238C>T (p.Asn746=) rs148107187 0.00006
NM_152309.3(PIK3AP1):c.60C>T (p.Ala20=) rs201085961 0.00006
NM_152309.3(PIK3AP1):c.730G>A (p.Val244Ile) rs761647957 0.00006
NM_152309.3(PIK3AP1):c.775G>A (p.Val259Ile) rs374586750 0.00006
NM_152309.3(PIK3AP1):c.1098C>T (p.Ser366=) rs370396990 0.00005
NM_152309.3(PIK3AP1):c.1137T>C (p.Ala379=) rs762383625 0.00005
NM_152309.3(PIK3AP1):c.2273G>A (p.Arg758His) rs765634361 0.00005
NM_152309.3(PIK3AP1):c.664A>T (p.Met222Leu) rs774215325 0.00005
NM_152309.3(PIK3AP1):c.712+18A>G rs375742773 0.00005
NM_152309.3(PIK3AP1):c.936C>T (p.Ser312=) rs763294320 0.00005
NM_152309.3(PIK3AP1):c.1191G>A (p.Thr397=) rs753965309 0.00004
NM_152309.3(PIK3AP1):c.1621G>A (p.Ala541Thr) rs367613610 0.00004
NM_152309.3(PIK3AP1):c.1710C>T (p.Tyr570=) rs754985674 0.00004
NM_152309.3(PIK3AP1):c.1730G>C (p.Arg577Thr) rs199933936 0.00004
NM_152309.3(PIK3AP1):c.1743C>T (p.Pro581=) rs150030424 0.00004
NM_152309.3(PIK3AP1):c.1863C>T (p.Asn621=) rs775513848 0.00004
NM_152309.3(PIK3AP1):c.1881C>G (p.Leu627=) rs753071212 0.00004
NM_152309.3(PIK3AP1):c.31G>A (p.Asp11Asn) rs138344015 0.00004
NM_152309.3(PIK3AP1):c.567+10G>C rs367980584 0.00004
NM_152309.3(PIK3AP1):c.568-15G>A rs575594175 0.00004
NM_152309.3(PIK3AP1):c.2014+17G>C rs752466455 0.00003
NM_152309.3(PIK3AP1):c.2015-6T>A rs775761112 0.00003
NM_152309.3(PIK3AP1):c.227T>G (p.Val76Gly) rs770097737 0.00003
NM_152309.3(PIK3AP1):c.2387C>G (p.Pro796Arg) rs746172807 0.00003
NM_152309.3(PIK3AP1):c.554G>A (p.Arg185His) rs1364487885 0.00003
NM_152309.3(PIK3AP1):c.620C>T (p.Ala207Val) rs201029174 0.00003
NM_152309.3(PIK3AP1):c.900G>C (p.Leu300=) rs370579298 0.00003
NM_152309.3(PIK3AP1):c.1083C>T (p.Ala361=) rs766566195 0.00002
NM_152309.3(PIK3AP1):c.1146C>T (p.His382=) rs769390249 0.00002
NM_152309.3(PIK3AP1):c.1471+9T>C rs779450561 0.00002
NM_152309.3(PIK3AP1):c.1499A>G (p.Glu500Gly) rs185079778 0.00002
NM_152309.3(PIK3AP1):c.1650C>T (p.Asn550=) rs749043096 0.00002
NM_152309.3(PIK3AP1):c.1664T>C (p.Phe555Ser) rs781326320 0.00002
NM_152309.3(PIK3AP1):c.1739C>T (p.Pro580Leu) rs778955496 0.00002
NM_152309.3(PIK3AP1):c.1941+5C>A rs745868556 0.00002
NM_152309.3(PIK3AP1):c.2197C>T (p.Arg733Trp) rs753785564 0.00002
NM_152309.3(PIK3AP1):c.2343G>A (p.Pro781=) rs539458415 0.00002
NM_152309.3(PIK3AP1):c.2366C>T (p.Pro789Leu) rs1261866966 0.00002
NM_152309.3(PIK3AP1):c.257C>T (p.Pro86Leu) rs374337467 0.00002
NM_152309.3(PIK3AP1):c.280C>T (p.Pro94Ser) rs1469971703 0.00002
NM_152309.3(PIK3AP1):c.645G>A (p.Glu215=) rs752098964 0.00002
NM_152309.3(PIK3AP1):c.800A>G (p.Glu267Gly) rs200224557 0.00002
NM_152309.3(PIK3AP1):c.915G>A (p.Leu305=) rs760573991 0.00002
NM_152309.3(PIK3AP1):c.1014C>A (p.Thr338=) rs374819025 0.00001
NM_152309.3(PIK3AP1):c.1111C>A (p.His371Asn) rs764406248 0.00001
NM_152309.3(PIK3AP1):c.1162C>A (p.Arg388=) rs1291249415 0.00001
NM_152309.3(PIK3AP1):c.1234G>A (p.Gly412Arg) rs760007926 0.00001
NM_152309.3(PIK3AP1):c.1239G>C (p.Glu413Asp) rs150135770 0.00001
NM_152309.3(PIK3AP1):c.1257C>T (p.Tyr419=) rs776232557 0.00001
NM_152309.3(PIK3AP1):c.1258G>A (p.Glu420Lys) rs763602032 0.00001
NM_152309.3(PIK3AP1):c.1259A>T (p.Glu420Val) rs1296135119 0.00001
NM_152309.3(PIK3AP1):c.1433G>A (p.Arg478Gln) rs760805333 0.00001
NM_152309.3(PIK3AP1):c.1471+14A>G rs771532503 0.00001
NM_152309.3(PIK3AP1):c.1472-14C>T rs767738933 0.00001
NM_152309.3(PIK3AP1):c.1472-8G>A rs774832922 0.00001
NM_152309.3(PIK3AP1):c.147C>T (p.Pro49=) rs557918551 0.00001
NM_152309.3(PIK3AP1):c.1483G>A (p.Gly495Arg) rs773784554 0.00001
NM_152309.3(PIK3AP1):c.1490C>A (p.Thr497Asn) rs1245379804 0.00001
NM_152309.3(PIK3AP1):c.1517T>A (p.Leu506His) rs1285143382 0.00001
NM_152309.3(PIK3AP1):c.1544C>T (p.Thr515Met) rs544379655 0.00001
NM_152309.3(PIK3AP1):c.1545G>A (p.Thr515=) rs375373941 0.00001
NM_152309.3(PIK3AP1):c.1590C>A (p.Pro530=) rs1363813166 0.00001
NM_152309.3(PIK3AP1):c.1645G>A (p.Asp549Asn) rs778480899 0.00001
NM_152309.3(PIK3AP1):c.1670-3T>C rs567983975 0.00001
NM_152309.3(PIK3AP1):c.1711G>A (p.Val571Ile) rs751645271 0.00001
NM_152309.3(PIK3AP1):c.1712T>C (p.Val571Ala) rs1251757430 0.00001
NM_152309.3(PIK3AP1):c.1805C>T (p.Thr602Met) rs1018719222 0.00001
NM_152309.3(PIK3AP1):c.1817G>A (p.Arg606Gln) rs768643466 0.00001
NM_152309.3(PIK3AP1):c.1920G>A (p.Ser640=) rs200684467 0.00001
NM_152309.3(PIK3AP1):c.1931G>A (p.Arg644His) rs771872937 0.00001
NM_152309.3(PIK3AP1):c.1942-10T>C rs767405565 0.00001
NM_152309.3(PIK3AP1):c.1955G>A (p.Arg652Gln) rs762971506 0.00001
NM_152309.3(PIK3AP1):c.1985G>A (p.Arg662Lys) rs747349549 0.00001
NM_152309.3(PIK3AP1):c.202G>A (p.Val68Met) rs952542746 0.00001
NM_152309.3(PIK3AP1):c.2035A>G (p.Ile679Val) rs200270009 0.00001
NM_152309.3(PIK3AP1):c.2051A>G (p.His684Arg) rs1589484825 0.00001
NM_152309.3(PIK3AP1):c.2066T>C (p.Val689Ala) rs1849075736 0.00001
NM_152309.3(PIK3AP1):c.2073T>C (p.Phe691=) rs766208052 0.00001
NM_152309.3(PIK3AP1):c.2084A>T (p.Glu695Val) rs1460674779 0.00001
NM_152309.3(PIK3AP1):c.2099A>T (p.Lys700Ile) rs760856517 0.00001
NM_152309.3(PIK3AP1):c.2147C>T (p.Thr716Ile) rs368775964 0.00001
NM_152309.3(PIK3AP1):c.2170+11G>A rs1292350732 0.00001
NM_152309.3(PIK3AP1):c.2170+14G>A rs1356906937 0.00001
NM_152309.3(PIK3AP1):c.2198G>A (p.Arg733Gln) rs777771892 0.00001
NM_152309.3(PIK3AP1):c.2214G>T (p.Val738=) rs752844654 0.00001
NM_152309.3(PIK3AP1):c.2220C>T (p.Ser740=) rs767807459 0.00001
NM_152309.3(PIK3AP1):c.2241+13A>T rs1283162856 0.00001
NM_152309.3(PIK3AP1):c.2298T>C (p.Asp766=) rs1370881954 0.00001
NM_152309.3(PIK3AP1):c.2317C>T (p.Leu773Phe) rs1462949784 0.00001
NM_152309.3(PIK3AP1):c.2354C>T (p.Ser785Leu) rs769596130 0.00001
NM_152309.3(PIK3AP1):c.2367G>A (p.Pro789=) rs776649790 0.00001
NM_152309.3(PIK3AP1):c.2369C>T (p.Thr790Ile) rs1334720195 0.00001
NM_152309.3(PIK3AP1):c.2378C>T (p.Thr793Ile) rs140404891 0.00001
NM_152309.3(PIK3AP1):c.256C>T (p.Pro86Ser) rs1461903721 0.00001
NM_152309.3(PIK3AP1):c.313G>T (p.Val105Leu) rs766269268 0.00001
NM_152309.3(PIK3AP1):c.491C>T (p.Ser164Leu) rs1281459160 0.00001
NM_152309.3(PIK3AP1):c.507G>C (p.Leu169=) rs1227973829 0.00001
NM_152309.3(PIK3AP1):c.509C>T (p.Pro170Leu) rs752904157 0.00001
NM_152309.3(PIK3AP1):c.512C>T (p.Thr171Met) rs567912958 0.00001
NM_152309.3(PIK3AP1):c.526G>A (p.Gly176Arg) rs768087248 0.00001
NM_152309.3(PIK3AP1):c.567+8C>T rs756216607 0.00001
NM_152309.3(PIK3AP1):c.568-7G>A rs377765234 0.00001
NM_152309.3(PIK3AP1):c.568G>A (p.Ala190Thr) rs748113882 0.00001
NM_152309.3(PIK3AP1):c.691A>G (p.Thr231Ala) rs201805846 0.00001
NM_152309.3(PIK3AP1):c.75G>A (p.Gln25=) rs202093664 0.00001
NM_152309.3(PIK3AP1):c.771A>G (p.Glu257=) rs934060056 0.00001
NM_152309.3(PIK3AP1):c.789T>C (p.Tyr263=) rs567664840 0.00001
NM_152309.3(PIK3AP1):c.831G>A (p.Ala277=) rs761608807 0.00001
NM_152309.3(PIK3AP1):c.854A>G (p.Gln285Arg) rs1440323214 0.00001
NM_152309.3(PIK3AP1):c.875A>T (p.Tyr292Phe) rs903471733 0.00001
NM_152309.3(PIK3AP1):c.917A>G (p.Lys306Arg) rs539294987 0.00001
NM_152309.3(PIK3AP1):c.937G>A (p.Gly313Arg) rs1280519942 0.00001
NM_152309.3(PIK3AP1):c.951T>C (p.Phe317=) rs1332271762 0.00001
NC_000010.10:g.(?_98408406)_(98480151_?)dup
NM_152309.3(PIK3AP1):c.1026T>G (p.Phe342Leu) rs2134231522
NM_152309.3(PIK3AP1):c.1031C>T (p.Ala344Val)
NM_152309.3(PIK3AP1):c.1032G>A (p.Ala344=) rs562494094
NM_152309.3(PIK3AP1):c.1032G>T (p.Ala344=)
NM_152309.3(PIK3AP1):c.1039G>A (p.Gly347Arg) rs1473752688
NM_152309.3(PIK3AP1):c.103C>T (p.Arg35Trp) rs760519047
NM_152309.3(PIK3AP1):c.1060T>A (p.Leu354Met)
NM_152309.3(PIK3AP1):c.1068C>T (p.Leu356=)
NM_152309.3(PIK3AP1):c.1070C>T (p.Thr357Ile) rs754924629
NM_152309.3(PIK3AP1):c.1092G>C (p.Ala364=)
NM_152309.3(PIK3AP1):c.112C>G (p.Arg38Gly)
NM_152309.3(PIK3AP1):c.113G>A (p.Arg38His) rs770855063
NM_152309.3(PIK3AP1):c.1143A>G (p.Lys381=)
NM_152309.3(PIK3AP1):c.1176C>T (p.Asp392=)
NM_152309.3(PIK3AP1):c.1177G>A (p.Glu393Lys)
NM_152309.3(PIK3AP1):c.1186-15C>T rs2134228489
NM_152309.3(PIK3AP1):c.1186-17C>T
NM_152309.3(PIK3AP1):c.118del (p.Gln40fs) rs1564991748
NM_152309.3(PIK3AP1):c.1190C>T (p.Thr397Met)
NM_152309.3(PIK3AP1):c.1213A>C (p.Ile405Leu)
NM_152309.3(PIK3AP1):c.1218A>C (p.Lys406Asn) rs1177724670
NM_152309.3(PIK3AP1):c.1227G>C (p.Leu409=) rs2134228418
NM_152309.3(PIK3AP1):c.1233C>T (p.His411=)
NM_152309.3(PIK3AP1):c.123G>C (p.Lys41Asn)
NM_152309.3(PIK3AP1):c.1242G>A (p.Glu414=)
NM_152309.3(PIK3AP1):c.1243G>C (p.Ala415Pro) rs191740470
NM_152309.3(PIK3AP1):c.1243G>T (p.Ala415Ser)
NM_152309.3(PIK3AP1):c.1244C>G (p.Ala415Gly) rs1239321656
NM_152309.3(PIK3AP1):c.1252G>A (p.Val418Met) rs562166763
NM_152309.3(PIK3AP1):c.1252G>T (p.Val418Leu)
NM_152309.3(PIK3AP1):c.127C>T (p.Leu43=) rs2134291490
NM_152309.3(PIK3AP1):c.1281A>T (p.Thr427=)
NM_152309.3(PIK3AP1):c.1301C>T (p.Ser434Leu) rs1329719454
NM_152309.3(PIK3AP1):c.135C>T (p.His45=)
NM_152309.3(PIK3AP1):c.1376-6T>G
NM_152309.3(PIK3AP1):c.1398T>G (p.Ser466Arg)
NM_152309.3(PIK3AP1):c.14-17G>A
NM_152309.3(PIK3AP1):c.14-5T>C rs2134291677
NM_152309.3(PIK3AP1):c.1414C>T (p.Pro472Ser)
NM_152309.3(PIK3AP1):c.1417G>A (p.Gly473Arg) rs2134208864
NM_152309.3(PIK3AP1):c.1436C>T (p.Ala479Val)
NM_152309.3(PIK3AP1):c.1439C>T (p.Thr480Ile) rs1843182697
NM_152309.3(PIK3AP1):c.143G>A (p.Gly48Asp) rs1249665321
NM_152309.3(PIK3AP1):c.1452G>T (p.Met484Ile) rs2134208820
NM_152309.3(PIK3AP1):c.1456C>T (p.Arg486Cys) rs1308742123
NM_152309.3(PIK3AP1):c.145C>A (p.Pro49Thr) rs773554213
NM_152309.3(PIK3AP1):c.1461G>A (p.Lys487=) rs2134208806
NM_152309.3(PIK3AP1):c.1470A>G (p.Glu490=)
NM_152309.3(PIK3AP1):c.1471+18G>A
NM_152309.3(PIK3AP1):c.1471+19C>T
NM_152309.3(PIK3AP1):c.1471+6T>C
NM_152309.3(PIK3AP1):c.1472-5T>C
NM_152309.3(PIK3AP1):c.1472G>A (p.Gly491Asp)
NM_152309.3(PIK3AP1):c.1489A>G (p.Thr497Ala) rs770212814
NM_152309.3(PIK3AP1):c.1507C>G (p.Gln503Glu)
NM_152309.3(PIK3AP1):c.150G>C (p.Glu50Asp) rs1844416205
NM_152309.3(PIK3AP1):c.1527A>G (p.Glu509=) rs1218886811
NM_152309.3(PIK3AP1):c.1527AGA[1] (p.Glu510del) rs752887348
NM_152309.3(PIK3AP1):c.1528G>A (p.Glu510Lys) rs1843161341
NM_152309.3(PIK3AP1):c.1534G>T (p.Val512Phe) rs2134207401
NM_152309.3(PIK3AP1):c.1536T>G (p.Val512=)
NM_152309.3(PIK3AP1):c.153C>T (p.Ala51=) rs1554963337
NM_152309.3(PIK3AP1):c.1543A>G (p.Thr515Ala)
NM_152309.3(PIK3AP1):c.156C>T (p.Ser52=)
NM_152309.3(PIK3AP1):c.158_160del (p.Phe53del)
NM_152309.3(PIK3AP1):c.1590C>T (p.Pro530=) rs1363813166
NM_152309.3(PIK3AP1):c.1599A>G (p.Pro533=) rs2134207312
NM_152309.3(PIK3AP1):c.163G>T (p.Ala55Ser) rs1844415897
NM_152309.3(PIK3AP1):c.1650C>G (p.Asn550Lys)
NM_152309.3(PIK3AP1):c.1669+10_1669+11delinsTT
NM_152309.3(PIK3AP1):c.1669+17A>G
NM_152309.3(PIK3AP1):c.1669+7A>G rs2134207219
NM_152309.3(PIK3AP1):c.1669G>A (p.Val557Ile) rs1843157949
NM_152309.3(PIK3AP1):c.1670-2A>T rs1843115988
NM_152309.3(PIK3AP1):c.1670-9A>T
NM_152309.3(PIK3AP1):c.1676C>T (p.Ala559Val) rs1843115934
NM_152309.3(PIK3AP1):c.1690G>A (p.Glu564Lys) rs1274478777
NM_152309.3(PIK3AP1):c.1694G>A (p.Arg565Gln)
NM_152309.3(PIK3AP1):c.1695G>A (p.Arg565=) rs922297353
NM_152309.3(PIK3AP1):c.1703A>T (p.Asn568Ile)
NM_152309.3(PIK3AP1):c.1705T>G (p.Phe569Val)
NM_152309.3(PIK3AP1):c.1727T>A (p.Ile576Asn)
NM_152309.3(PIK3AP1):c.1728C>T (p.Ile576=) rs1554954774
NM_152309.3(PIK3AP1):c.1736G>C (p.Gly579Ala)
NM_152309.3(PIK3AP1):c.1740G>A (p.Pro580=)
NM_152309.3(PIK3AP1):c.1765C>T (p.Pro589Ser)
NM_152309.3(PIK3AP1):c.1793C>T (p.Ala598Val) rs761563569
NM_152309.3(PIK3AP1):c.182T>A (p.Phe61Tyr) rs1295938169
NM_152309.3(PIK3AP1):c.1857T>C (p.Ile619=) rs2134201181
NM_152309.3(PIK3AP1):c.1861A>G (p.Asn621Asp) rs2134201180
NM_152309.3(PIK3AP1):c.1872G>A (p.Glu624=) rs2134201161
NM_152309.3(PIK3AP1):c.1881C>T (p.Leu627=) rs753071212
NM_152309.3(PIK3AP1):c.18G>A (p.Val6=)
NM_152309.3(PIK3AP1):c.1907A>G (p.Gln636Arg) rs2134201107
NM_152309.3(PIK3AP1):c.1915C>T (p.Arg639Ter) rs1843059517
NM_152309.3(PIK3AP1):c.192C>T (p.Thr64=) rs755769271
NM_152309.3(PIK3AP1):c.1930C>T (p.Arg644Cys)
NM_152309.3(PIK3AP1):c.1942-3C>T
NM_152309.3(PIK3AP1):c.1965C>T (p.Asp655=)
NM_152309.3(PIK3AP1):c.1966A>T (p.Ser656Cys)
NM_152309.3(PIK3AP1):c.1983G>A (p.Gln661=)
NM_152309.3(PIK3AP1):c.1998dup (p.Ser667fs) rs1589490109
NM_152309.3(PIK3AP1):c.2014+12C>G
NM_152309.3(PIK3AP1):c.201C>T (p.Val67=) rs767322969
NM_152309.3(PIK3AP1):c.2028G>A (p.Thr676=)
NM_152309.3(PIK3AP1):c.2099A>G (p.Lys700Arg) rs760856517
NM_152309.3(PIK3AP1):c.2100A>G (p.Lys700=) rs2134189611
NM_152309.3(PIK3AP1):c.2103_2104inv (p.Val702Ile)
NM_152309.3(PIK3AP1):c.2108T>C (p.Ile703Thr) rs1554952901
NM_152309.3(PIK3AP1):c.2116A>C (p.Arg706=)
NM_152309.3(PIK3AP1):c.2121G>A (p.Thr707=)
NM_152309.3(PIK3AP1):c.2132G>A (p.Arg711Gln)
NM_152309.3(PIK3AP1):c.2135G>A (p.Gly712Glu) rs1849071480
NM_152309.3(PIK3AP1):c.216C>G (p.Ser72=)
NM_152309.3(PIK3AP1):c.2170+15G>T
NM_152309.3(PIK3AP1):c.2170+17G>A rs2134189475
NM_152309.3(PIK3AP1):c.2170+18C>G rs753935989
NM_152309.3(PIK3AP1):c.2170+18C>T rs753935989
NM_152309.3(PIK3AP1):c.2171-17T>C
NM_152309.3(PIK3AP1):c.2171-20A>G rs1848957609
NM_152309.3(PIK3AP1):c.2177C>G (p.Thr726Arg) rs113976248
NM_152309.3(PIK3AP1):c.2185C>T (p.Arg729Cys) rs745636219
NM_152309.3(PIK3AP1):c.2187C>T (p.Arg729=) rs2134183432
NM_152309.3(PIK3AP1):c.218C>T (p.Ala73Val)
NM_152309.3(PIK3AP1):c.2196C>G (p.Thr732=)
NM_152309.3(PIK3AP1):c.219G>A (p.Ala73=)
NM_152309.3(PIK3AP1):c.2205C>T (p.Leu735=)
NM_152309.3(PIK3AP1):c.2237A>C (p.Asn746Thr)
NM_152309.3(PIK3AP1):c.2241+6A>G
NM_152309.3(PIK3AP1):c.2242-19C>T
NM_152309.3(PIK3AP1):c.2242-6del rs2134181291
NM_152309.3(PIK3AP1):c.2272C>T (p.Arg758Cys)
NM_152309.3(PIK3AP1):c.2283C>T (p.Gly761=)
NM_152309.3(PIK3AP1):c.2288C>A (p.Pro763Gln)
NM_152309.3(PIK3AP1):c.2294T>C (p.Val765Ala) rs1164907557
NM_152309.3(PIK3AP1):c.22A>G (p.Arg8Gly) rs1844418715
NM_152309.3(PIK3AP1):c.2305C>A (p.Pro769Thr) rs1554951926
NM_152309.3(PIK3AP1):c.2319C>G (p.Leu773=) rs777233199
NM_152309.3(PIK3AP1):c.2335G>C (p.Val779Leu)
NM_152309.3(PIK3AP1):c.2339C>T (p.Pro780Leu) rs2134181089
NM_152309.3(PIK3AP1):c.233A>G (p.His78Arg)
NM_152309.3(PIK3AP1):c.2342C>T (p.Pro781Leu)
NM_152309.3(PIK3AP1):c.2352C>T (p.Ala784=) rs1390796047
NM_152309.3(PIK3AP1):c.2360+14T>C
NM_152309.3(PIK3AP1):c.2360+15G>T
NM_152309.3(PIK3AP1):c.2360+19T>A rs747096308
NM_152309.3(PIK3AP1):c.2360+19T>C
NM_152309.3(PIK3AP1):c.2360+19T>G
NM_152309.3(PIK3AP1):c.2360+6A>G rs1848911558
NM_152309.3(PIK3AP1):c.2361-17C>A rs2134172614
NM_152309.3(PIK3AP1):c.237C>G (p.Phe79Leu) rs1324659918
NM_152309.3(PIK3AP1):c.2387C>A (p.Pro796His) rs746172807
NM_152309.3(PIK3AP1):c.239A>C (p.His80Pro) rs1589550882
NM_152309.3(PIK3AP1):c.253C>T (p.Leu85=)
NM_152309.3(PIK3AP1):c.26G>A (p.Gly9Glu) rs1381486962
NM_152309.3(PIK3AP1):c.295G>C (p.Val99Leu)
NM_152309.3(PIK3AP1):c.312C>T (p.Gly104=)
NM_152309.3(PIK3AP1):c.313G>A (p.Val105Met)
NM_152309.3(PIK3AP1):c.317G>A (p.Arg106Gln) rs1323743578
NM_152309.3(PIK3AP1):c.319G>A (p.Asp107Asn)
NM_152309.3(PIK3AP1):c.325G>A (p.Glu109Lys)
NM_152309.3(PIK3AP1):c.333C>T (p.Phe111=)
NM_152309.3(PIK3AP1):c.338A>G (p.Asp113Gly) rs2134291149
NM_152309.3(PIK3AP1):c.359A>G (p.His120Arg) rs762096013
NM_152309.3(PIK3AP1):c.363G>T (p.Trp121Cys)
NM_152309.3(PIK3AP1):c.367G>A (p.Glu123Lys)
NM_152309.3(PIK3AP1):c.381C>A (p.Asp127Glu)
NM_152309.3(PIK3AP1):c.381C>T (p.Asp127=) rs1206726427
NM_152309.3(PIK3AP1):c.382G>C (p.Asp128His) rs1844410722
NM_152309.3(PIK3AP1):c.426C>T (p.Ser142=)
NM_152309.3(PIK3AP1):c.431-18G>A rs1409765569
NM_152309.3(PIK3AP1):c.431-5T>C
NM_152309.3(PIK3AP1):c.442G>T (p.Asp148Tyr)
NM_152309.3(PIK3AP1):c.450C>T (p.Val150=)
NM_152309.3(PIK3AP1):c.492G>A (p.Ser164=) rs778934212
NM_152309.3(PIK3AP1):c.492G>C (p.Ser164=)
NM_152309.3(PIK3AP1):c.504C>T (p.Asn168=) rs143102361
NM_152309.3(PIK3AP1):c.510G>C (p.Pro170=) rs761536697
NM_152309.3(PIK3AP1):c.512C>G (p.Thr171Arg)
NM_152309.3(PIK3AP1):c.514G>C (p.Val172Leu)
NM_152309.3(PIK3AP1):c.514G>T (p.Val172Leu) rs766807797
NM_152309.3(PIK3AP1):c.522A>C (p.Ser174=) rs776181166
NM_152309.3(PIK3AP1):c.528G>C (p.Gly176=)
NM_152309.3(PIK3AP1):c.53C>T (p.Pro18Leu)
NM_152309.3(PIK3AP1):c.553C>T (p.Arg185Cys) rs749289928
NM_152309.3(PIK3AP1):c.562T>C (p.Cys188Arg) rs1843620428
NM_152309.3(PIK3AP1):c.567+5G>T rs2134239266
NM_152309.3(PIK3AP1):c.608A>G (p.Asp203Gly)
NM_152309.3(PIK3AP1):c.612C>T (p.Asp204=)
NM_152309.3(PIK3AP1):c.616G>T (p.Val206Leu)
NM_152309.3(PIK3AP1):c.621G>T (p.Ala207=)
NM_152309.3(PIK3AP1):c.642T>A (p.Pro214=) rs752472885
NM_152309.3(PIK3AP1):c.646G>A (p.Asp216Asn)
NM_152309.3(PIK3AP1):c.662G>A (p.Arg221Lys)
NM_152309.3(PIK3AP1):c.679G>C (p.Glu227Gln) rs1843557117
NM_152309.3(PIK3AP1):c.685G>A (p.Glu229Lys) rs1264361188
NM_152309.3(PIK3AP1):c.690C>T (p.Tyr230=) rs2134235520
NM_152309.3(PIK3AP1):c.706G>T (p.Ala236Ser) rs1307133908
NM_152309.3(PIK3AP1):c.712+14T>G rs2134235478
NM_152309.3(PIK3AP1):c.713-19T>C
NM_152309.3(PIK3AP1):c.748T>G (p.Ser250Ala)
NM_152309.3(PIK3AP1):c.758T>C (p.Leu253Ser)
NM_152309.3(PIK3AP1):c.759A>C (p.Leu253Phe)
NM_152309.3(PIK3AP1):c.761T>A (p.Val254Glu)
NM_152309.3(PIK3AP1):c.796A>G (p.Met266Val) rs371873967
NM_152309.3(PIK3AP1):c.79C>T (p.Leu27=) rs2134291563
NM_152309.3(PIK3AP1):c.807T>G (p.Ile269Met) rs1843537852
NM_152309.3(PIK3AP1):c.808G>A (p.Gly270Arg) rs751076536
NM_152309.3(PIK3AP1):c.813T>C (p.Asn271=)
NM_152309.3(PIK3AP1):c.814T>G (p.Leu272Val) rs2134234232
NM_152309.3(PIK3AP1):c.826G>A (p.Ala276Thr) rs779642441
NM_152309.3(PIK3AP1):c.829G>A (p.Ala277Thr)
NM_152309.3(PIK3AP1):c.829G>T (p.Ala277Ser) rs182619826
NM_152309.3(PIK3AP1):c.855+13C>A
NM_152309.3(PIK3AP1):c.855+7A>T rs2134234166
NM_152309.3(PIK3AP1):c.856-20A>G
NM_152309.3(PIK3AP1):c.887C>T (p.Thr296Ile) rs1589515449
NM_152309.3(PIK3AP1):c.898C>T (p.Leu300=) rs1427646407
NM_152309.3(PIK3AP1):c.91T>C (p.Phe31Leu)
NM_152309.3(PIK3AP1):c.921C>A (p.Asn307Lys) rs774301849
NM_152309.3(PIK3AP1):c.980T>C (p.Met327Thr) rs972272839
NM_152309.3(PIK3AP1):c.988+11A>G
NM_152309.3(PIK3AP1):c.988+6T>A

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