ClinVar Miner

List of variants studied for Cowden syndrome by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 590
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HGVS dbSNP gnomAD frequency
NM_006218.4(PIK3CA):c.1060-17C>A rs2699896 0.55517
NM_006218.4(PIK3CA):c.1173A>G (p.Ile391Met) rs2230461 0.10578
NM_006218.4(PIK3CA):c.1747-13T>C rs41273619 0.05277
NM_006218.4(PIK3CA):c.3075C>T (p.Thr1025=) rs17849079 0.01239
NM_006218.4(PIK3CA):c.363C>T (p.Ile121=) rs115746478 0.00769
NM_006218.4(PIK3CA):c.2298T>G (p.Leu766=) rs116164892 0.00404
NM_006218.4(PIK3CA):c.*29T>C rs141178472 0.00333
NM_006218.4(PIK3CA):c.1143C>G (p.Pro381=) rs72561481 0.00303
NM_006218.4(PIK3CA):c.1788A>G (p.Glu596=) rs137902538 0.00299
NM_006218.4(PIK3CA):c.2016-12C>T rs147286696 0.00275
NM_006218.4(PIK3CA):c.2181A>T (p.Thr727=) rs116336243 0.00117
NM_006218.4(PIK3CA):c.1747-9C>T rs201779641 0.00046
NM_006218.4(PIK3CA):c.352+11A>G rs201605394 0.00033
NM_006218.4(PIK3CA):c.140A>G (p.His47Arg) rs190372148 0.00032
NM_006218.4(PIK3CA):c.2015+9A>G rs200768351 0.00032
NM_006218.4(PIK3CA):c.1104T>C (p.Cys368=) rs202162121 0.00029
NM_006218.4(PIK3CA):c.1530C>T (p.His510=) rs200934230 0.00025
NM_006218.4(PIK3CA):c.2666+11T>G rs201113847 0.00024
NM_006218.4(PIK3CA):c.1056T>C (p.Asp352=) rs1131681 0.00022
NM_006218.4(PIK3CA):c.2295-19G>C rs188003220 0.00021
NM_006218.4(PIK3CA):c.814-15C>G rs201682277 0.00019
NM_006218.4(PIK3CA):c.2985C>T (p.Ala995=) rs201884756 0.00018
NM_006218.4(PIK3CA):c.318C>A (p.Gly106=) rs201193059 0.00016
NM_006218.4(PIK3CA):c.1125A>G (p.Arg375=) rs200568210 0.00012
NM_006218.4(PIK3CA):c.168C>T (p.Tyr56=) rs200868796 0.00011
NM_006218.4(PIK3CA):c.2198A>G (p.Lys733Arg) rs181194055 0.00011
NM_006218.4(PIK3CA):c.548A>G (p.Asn183Ser) rs767439253 0.00011
NM_006218.4(PIK3CA):c.2103C>T (p.His701=) rs762364388 0.00010
NM_006218.4(PIK3CA):c.2514T>C (p.Cys838=) rs202175608 0.00010
NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg) rs113613074 0.00009
NM_006218.4(PIK3CA):c.225A>G (p.Gln75=) rs202176973 0.00009
NM_006218.4(PIK3CA):c.3198A>G (p.Ala1066=) rs201911086 0.00009
NM_006218.4(PIK3CA):c.1405-19C>A rs200583891 0.00008
NM_006218.4(PIK3CA):c.2936+8C>T rs372832719 0.00008
NM_006218.4(PIK3CA):c.2937-15T>C rs200829898 0.00008
NM_006218.4(PIK3CA):c.1404+19T>G rs200001396 0.00007
NM_006218.4(PIK3CA):c.2080G>T (p.Ala694Ser) rs200404201 0.00006
NM_006218.4(PIK3CA):c.211G>A (p.Val71Ile) rs201269904 0.00006
NM_006218.4(PIK3CA):c.529T>C (p.Leu177=) rs759712592 0.00006
NM_006218.4(PIK3CA):c.1528C>A (p.His510Asn) rs199747934 0.00005
NM_006218.4(PIK3CA):c.1544A>G (p.Asn515Ser) rs201371389 0.00005
NM_006218.4(PIK3CA):c.1146-4A>G rs201538541 0.00004
NM_006218.4(PIK3CA):c.1263A>G (p.Pro421=) rs199927451 0.00004
NM_006218.4(PIK3CA):c.1747-8A>G rs1396807505 0.00004
NM_006218.4(PIK3CA):c.178C>A (p.Gln60Lys) rs71310379 0.00004
NM_006218.4(PIK3CA):c.2040T>C (p.Val680=) rs201402676 0.00004
NM_006218.4(PIK3CA):c.2936+9G>A rs756341833 0.00004
NM_006218.4(PIK3CA):c.361A>G (p.Ile121Val) rs371727887 0.00004
NM_006218.4(PIK3CA):c.931A>G (p.Ile311Val) rs201238717 0.00004
NM_006218.4(PIK3CA):c.1139A>G (p.Asn380Ser) rs202013300 0.00003
NM_006218.4(PIK3CA):c.1501T>A (p.Ser501Thr) rs751557352 0.00003
NM_006218.4(PIK3CA):c.1599A>T (p.Ala533=) rs370901039 0.00003
NM_006218.4(PIK3CA):c.1743C>A (p.Ala581=) rs370692448 0.00003
NM_006218.4(PIK3CA):c.2013A>G (p.Leu671=) rs1060503813 0.00003
NM_006218.4(PIK3CA):c.2049G>A (p.Arg683=) rs775001064 0.00003
NM_006218.4(PIK3CA):c.2416+6G>A rs759918867 0.00003
NM_006218.4(PIK3CA):c.2496A>G (p.Arg832=) rs201269713 0.00003
NM_006218.4(PIK3CA):c.1059+19G>A rs201940827 0.00002
NM_006218.4(PIK3CA):c.141T>G (p.His47Gln) rs768265254 0.00002
NM_006218.4(PIK3CA):c.1540-13T>C rs202010325 0.00002
NM_006218.4(PIK3CA):c.1563T>C (p.Asn521=) rs756835265 0.00002
NM_006218.4(PIK3CA):c.1686C>T (p.Pro562=) rs201815216 0.00002
NM_006218.4(PIK3CA):c.1746+10T>C rs748414008 0.00002
NM_006218.4(PIK3CA):c.1767T>C (p.Asp589=) rs199540873 0.00002
NM_006218.4(PIK3CA):c.210C>T (p.Phe70=) rs760094170 0.00002
NM_006218.4(PIK3CA):c.228A>G (p.Glu76=) rs1360446174 0.00002
NM_006218.4(PIK3CA):c.2417-15T>C rs201818420 0.00002
NM_006218.4(PIK3CA):c.2418T>C (p.Asp806=) rs199693043 0.00002
NM_006218.4(PIK3CA):c.2445A>G (p.Gln815=) rs1400861611 0.00002
NM_006218.4(PIK3CA):c.2517G>A (p.Leu839=) rs753399946 0.00002
NM_006218.4(PIK3CA):c.2592C>T (p.Gly864=) rs780492649 0.00002
NM_006218.4(PIK3CA):c.2629C>T (p.Leu877=) rs747283707 0.00002
NM_006218.4(PIK3CA):c.2667A>G (p.Ile889Met) rs17849078 0.00002
NM_006218.4(PIK3CA):c.3042A>G (p.Gln1014=) rs527991739 0.00002
NM_006218.4(PIK3CA):c.312A>G (p.Pro104=) rs1242038507 0.00002
NM_006218.4(PIK3CA):c.341A>G (p.Asn114Ser) rs746860750 0.00002
NM_006218.4(PIK3CA):c.435C>T (p.Asn145=) rs1051404 0.00002
NM_006218.4(PIK3CA):c.470A>G (p.Asn157Ser) rs200001957 0.00002
NM_006218.4(PIK3CA):c.563-3T>C rs200507422 0.00002
NM_006218.4(PIK3CA):c.817A>G (p.Ile273Val) rs765030404 0.00002
NM_006218.4(PIK3CA):c.1029C>T (p.Tyr343=) rs375577477 0.00001
NM_006218.4(PIK3CA):c.1059+12T>A rs200627037 0.00001
NM_006218.4(PIK3CA):c.1060-9T>C rs750875731 0.00001
NM_006218.4(PIK3CA):c.1215C>T (p.Ser405=) rs199689419 0.00001
NM_006218.4(PIK3CA):c.1234C>A (p.Arg412=) rs745676512 0.00001
NM_006218.4(PIK3CA):c.1252-10G>A rs201600987 0.00001
NM_006218.4(PIK3CA):c.1304C>T (p.Thr435Ile) rs745847400 0.00001
NM_006218.4(PIK3CA):c.1305T>C (p.Thr435=) rs1060503812 0.00001
NM_006218.4(PIK3CA):c.1324G>C (p.Ala442Pro) rs200951754 0.00001
NM_006218.4(PIK3CA):c.1342G>A (p.Val448Ile) rs201946684 0.00001
NM_006218.4(PIK3CA):c.1405-12T>C rs747847214 0.00001
NM_006218.4(PIK3CA):c.1432G>T (p.Asp478Tyr) rs772628045 0.00001
NM_006218.4(PIK3CA):c.1449G>C (p.Val483=) rs202186428 0.00001
NM_006218.4(PIK3CA):c.1458C>T (p.Phe486=) rs201775914 0.00001
NM_006218.4(PIK3CA):c.1465A>G (p.Met489Val) rs1187304552 0.00001
NM_006218.4(PIK3CA):c.1476T>A (p.Ile492=) rs557949672 0.00001
NM_006218.4(PIK3CA):c.1481A>G (p.Glu494Gly) rs1060500027 0.00001
NM_006218.4(PIK3CA):c.1489A>C (p.Asn497His) rs199563773 0.00001
NM_006218.4(PIK3CA):c.1490A>G (p.Asn497Ser) rs753879573 0.00001
NM_006218.4(PIK3CA):c.1494G>T (p.Trp498Cys) rs1271146910 0.00001
NM_006218.4(PIK3CA):c.1505G>A (p.Arg502Gln) rs1220116506 0.00001
NM_006218.4(PIK3CA):c.1512A>T (p.Ala504=) rs201108344 0.00001
NM_006218.4(PIK3CA):c.1653A>G (p.Leu551=) rs201983420 0.00001
NM_006218.4(PIK3CA):c.171C>G (p.Pro57=) rs202038584 0.00001
NM_006218.4(PIK3CA):c.1749G>A (p.Met583Ile) rs1302992156 0.00001
NM_006218.4(PIK3CA):c.176A>C (p.His59Pro) rs1480626654 0.00001
NM_006218.4(PIK3CA):c.1774C>T (p.Pro592Ser) rs1724920020 0.00001
NM_006218.4(PIK3CA):c.1828A>G (p.Met610Val) rs768646872 0.00001
NM_006218.4(PIK3CA):c.1850G>A (p.Arg617Gln) rs3865687 0.00001
NM_006218.4(PIK3CA):c.1857G>A (p.Leu619=) rs765176108 0.00001
NM_006218.4(PIK3CA):c.2016-3T>C rs879254354 0.00001
NM_006218.4(PIK3CA):c.2077C>T (p.Arg693Cys) rs1060500029 0.00001
NM_006218.4(PIK3CA):c.2115A>G (p.Gln705=) rs1253775694 0.00001
NM_006218.4(PIK3CA):c.2118C>T (p.Val706=) rs373861259 0.00001
NM_006218.4(PIK3CA):c.214A>G (p.Ser72Gly) rs1560137176 0.00001
NM_006218.4(PIK3CA):c.2187+3G>A rs758572428 0.00001
NM_006218.4(PIK3CA):c.2188-7T>A rs765727782 0.00001
NM_006218.4(PIK3CA):c.2214A>G (p.Gln738=) rs751886212 0.00001
NM_006218.4(PIK3CA):c.2283A>G (p.Leu761=) rs1011706035 0.00001
NM_006218.4(PIK3CA):c.2294+5T>C rs1265140191 0.00001
NM_006218.4(PIK3CA):c.2295-15T>C rs751310116 0.00001
NM_006218.4(PIK3CA):c.2301A>G (p.Glu767=) rs769405239 0.00001
NM_006218.4(PIK3CA):c.2392G>A (p.Glu798Lys) rs1430412182 0.00001
NM_006218.4(PIK3CA):c.2409T>C (p.Asn803=) rs1193928100 0.00001
NM_006218.4(PIK3CA):c.2422C>T (p.Arg808Trp) rs200671228 0.00001
NM_006218.4(PIK3CA):c.2495+15A>C rs775689452 0.00001
NM_006218.4(PIK3CA):c.2496-18G>A rs759447947 0.00001
NM_006218.4(PIK3CA):c.2496-19C>T rs774332931 0.00001
NM_006218.4(PIK3CA):c.2520A>T (p.Ser840=) rs1216933205 0.00001
NM_006218.4(PIK3CA):c.2523C>T (p.Ile841=) rs1285849390 0.00001
NM_006218.4(PIK3CA):c.2524G>A (p.Gly842Ser) rs1560148927 0.00001
NM_006218.4(PIK3CA):c.2530T>C (p.Cys844Arg) rs756890248 0.00001
NM_006218.4(PIK3CA):c.2550G>A (p.Val850=) rs1253104649 0.00001
NM_006218.4(PIK3CA):c.2554C>T (p.Arg852Ter) rs758795044 0.00001
NM_006218.4(PIK3CA):c.2555G>A (p.Arg852Gln) rs199943173 0.00001
NM_006218.4(PIK3CA):c.2607A>T (p.Ala869=) rs1165547628 0.00001
NM_006218.4(PIK3CA):c.2623C>T (p.His875Tyr) rs892699659 0.00001
NM_006218.4(PIK3CA):c.2649C>T (p.Asp883=) rs199826066 0.00001
NM_006218.4(PIK3CA):c.2651A>G (p.Lys884Arg) rs1395235750 0.00001
NM_006218.4(PIK3CA):c.2724C>T (p.Thr908=) rs1197527173 0.00001
NM_006218.4(PIK3CA):c.2775C>T (p.Asp925=) rs769962451 0.00001
NM_006218.4(PIK3CA):c.2776G>A (p.Asp926Asn) rs773300933 0.00001
NM_006218.4(PIK3CA):c.2919G>A (p.Lys973=) rs369770518 0.00001
NM_006218.4(PIK3CA):c.291C>T (p.Pro97=) rs1051400 0.00001
NM_006218.4(PIK3CA):c.2936+6C>T rs547967000 0.00001
NM_006218.4(PIK3CA):c.2937-17G>A rs199707417 0.00001
NM_006218.4(PIK3CA):c.2937-3T>C rs760056670 0.00001
NM_006218.4(PIK3CA):c.323G>A (p.Arg108His) rs886042002 0.00001
NM_006218.4(PIK3CA):c.339C>G (p.Leu113=) rs779052263 0.00001
NM_006218.4(PIK3CA):c.400C>T (p.Pro134Ser) rs750545881 0.00001
NM_006218.4(PIK3CA):c.414C>T (p.Asp138=) rs199543283 0.00001
NM_006218.4(PIK3CA):c.422G>A (p.Arg141Lys) rs200619412 0.00001
NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile) rs755969956 0.00001
NM_006218.4(PIK3CA):c.466C>T (p.Leu156Phe) rs201705993 0.00001
NM_006218.4(PIK3CA):c.483T>C (p.Ser161=) rs367754244 0.00001
NM_006218.4(PIK3CA):c.562+15A>C rs777496847 0.00001
NM_006218.4(PIK3CA):c.562+20A>C rs749141814 0.00001
NM_006218.4(PIK3CA):c.564G>C (p.Gly188=) rs1724403579 0.00001
NM_006218.4(PIK3CA):c.623C>G (p.Thr208Ser) rs372610277 0.00001
NM_006218.4(PIK3CA):c.635A>G (p.Asn212Ser) rs751662352 0.00001
NM_006218.4(PIK3CA):c.644G>A (p.Cys215Tyr) rs1724405220 0.00001
NM_006218.4(PIK3CA):c.814-20G>A rs202180110 0.00001
NM_006218.4(PIK3CA):c.814-4A>G rs761666391 0.00001
NM_006218.4(PIK3CA):c.814-9C>T rs753738741 0.00001
NM_006218.4(PIK3CA):c.814T>C (p.Tyr272His) rs1724476312 0.00001
NM_006218.4(PIK3CA):c.825C>T (p.Ser275=) rs1724476990 0.00001
NM_006218.4(PIK3CA):c.946C>A (p.Pro316Thr) rs1297000505 0.00001
NM_006218.4(PIK3CA):c.954G>A (p.Met318Ile) rs199605762 0.00001
NM_006218.4(PIK3CA):c.995G>A (p.Ser332Asn) rs1262394031 0.00001
NC_000003.11:g.(?_178916538)_(178952500_?)dup
NC_000003.11:g.(?_178916608)_(178952158_?)dup
NC_000003.11:g.(?_178916614)_(178952152_?)dup
NC_000003.11:g.(?_178935988)_(178952152_?)dup
NC_000003.11:g.(?_178941859)_(178952162_?)dup
NC_000003.11:g.(?_178947772)_(179144440_?)dup
NC_000003.11:g.(?_178951872)_(178952152_?)dup
NC_000003.12:g.(?_179199680)_(179234374_?)dup
NC_000003.12:g.(?_179203534)_(179234364_?)dup
NM_006218.4(PIK3CA):c.1004_1005del (p.Arg335fs) rs1553821123
NM_006218.4(PIK3CA):c.1014T>G (p.Ile338Met)
NM_006218.4(PIK3CA):c.1026C>G (p.Thr342=) rs1724483318
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met) rs1057519942
NM_006218.4(PIK3CA):c.103G>C (p.Glu35Gln) rs2108385365
NM_006218.4(PIK3CA):c.1055A>T (p.Asp352Val) rs1724484731
NM_006218.4(PIK3CA):c.1059+12T>C rs200627037
NM_006218.4(PIK3CA):c.1060-18_1060-17delinsAA rs1724504537
NM_006218.4(PIK3CA):c.1060-8T>C
NM_006218.4(PIK3CA):c.1060-8T>G
NM_006218.4(PIK3CA):c.1064A>G (p.Tyr355Cys) rs2108394261
NM_006218.4(PIK3CA):c.1071A>G (p.Arg357=) rs2108394279
NM_006218.4(PIK3CA):c.1082A>G (p.Tyr361Cys) rs1724506239
NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys) rs1064793732
NM_006218.4(PIK3CA):c.1098C>A (p.Pro366=) rs1442927984
NM_006218.4(PIK3CA):c.1122A>G (p.Gln374=) rs2108394515
NM_006218.4(PIK3CA):c.112C>T (p.Arg38Cys) rs749415085
NM_006218.4(PIK3CA):c.1130C>T (p.Pro377Leu)
NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr) rs397514565
NM_006218.4(PIK3CA):c.1136C>G (p.Ser379Cys) rs1724507950
NM_006218.4(PIK3CA):c.1145+13A>G
NM_006218.4(PIK3CA):c.1145+16G>A
NM_006218.4(PIK3CA):c.1145+19T>G
NM_006218.4(PIK3CA):c.1145+4A>G rs1724508525
NM_006218.4(PIK3CA):c.1145+9G>A rs1237861151
NM_006218.4(PIK3CA):c.1145+9G>T rs1237861151
NM_006218.4(PIK3CA):c.1146-17T>C
NM_006218.4(PIK3CA):c.1146-3T>C
NM_006218.4(PIK3CA):c.1175A>G (p.Tyr392Cys)
NM_006218.4(PIK3CA):c.1193G>A (p.Arg398His) rs748197872
NM_006218.4(PIK3CA):c.1193G>C (p.Arg398Pro)
NM_006218.4(PIK3CA):c.1203A>C (p.Arg401=)
NM_006218.4(PIK3CA):c.1203A>G (p.Arg401=) rs1576938104
NM_006218.4(PIK3CA):c.1232G>C (p.Gly411Ala)
NM_006218.4(PIK3CA):c.1235G>T (p.Arg412Leu) rs2108399407
NM_006218.4(PIK3CA):c.1244C>T (p.Ala415Val) rs1576938120
NM_006218.4(PIK3CA):c.1248A>G (p.Lys416=)
NM_006218.4(PIK3CA):c.1251+1G>C
NM_006218.4(PIK3CA):c.1251+3A>G
NM_006218.4(PIK3CA):c.1251+8_1251+11del rs2108399467
NM_006218.4(PIK3CA):c.1251+9T>G
NM_006218.4(PIK3CA):c.1254A>G (p.Glu418=) rs1060503810
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
NM_006218.4(PIK3CA):c.1269A>T (p.Ala423=) rs761246978
NM_006218.4(PIK3CA):c.1279A>G (p.Ile427Val)
NM_006218.4(PIK3CA):c.1292A>T (p.Asp431Val)
NM_006218.4(PIK3CA):c.1299A>G (p.Thr433=) rs1576938403
NM_006218.4(PIK3CA):c.1306C>G (p.Leu436Val) rs1365836230
NM_006218.4(PIK3CA):c.1308A>G (p.Leu436=) rs2108400390
NM_006218.4(PIK3CA):c.1321A>G (p.Met441Val) rs1427967136
NM_006218.4(PIK3CA):c.1324G>A (p.Ala442Thr) rs200951754
NM_006218.4(PIK3CA):c.1341A>C (p.Pro447=) rs1332986630
NM_006218.4(PIK3CA):c.1343_1357del (p.Val448_Leu452del) rs1724673930
NM_006218.4(PIK3CA):c.134T>C (p.Ile45Thr)
NM_006218.4(PIK3CA):c.1356A>G (p.Leu452=) rs1553822208
NM_006218.4(PIK3CA):c.1356AGA[1] (p.Glu453del) rs587776933
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys) rs1057519925
NM_006218.4(PIK3CA):c.1374T>A (p.Pro458=) rs1576938493
NM_006218.4(PIK3CA):c.139C>T (p.His47Tyr) rs1724336565
NM_006218.4(PIK3CA):c.1404+12A>C
NM_006218.4(PIK3CA):c.1404+15G>A rs555315457
NM_006218.4(PIK3CA):c.1404+15G>T
NM_006218.4(PIK3CA):c.1404+17C>T
NM_006218.4(PIK3CA):c.1404+3A>T
NM_006218.4(PIK3CA):c.1404+6G>A
NM_006218.4(PIK3CA):c.1405-14C>T
NM_006218.4(PIK3CA):c.1405-8T>C rs1576938589
NM_006218.4(PIK3CA):c.1426G>A (p.Glu476Lys)
NM_006218.4(PIK3CA):c.1428G>A (p.Glu476=) rs1576938610
NM_006218.4(PIK3CA):c.1445G>C (p.Ser482Thr)
NM_006218.4(PIK3CA):c.1447G>C (p.Val483Leu) rs991307659
NM_006218.4(PIK3CA):c.1448T>C (p.Val483Ala) rs1724680844
NM_006218.4(PIK3CA):c.1467G>C (p.Met489Ile) rs2108401457
NM_006218.4(PIK3CA):c.1476T>G (p.Ile492Met) rs557949672
NM_006218.4(PIK3CA):c.147A>G (p.Leu49=) rs1207754023
NM_006218.4(PIK3CA):c.1480G>C (p.Glu494Gln)
NM_006218.4(PIK3CA):c.1485T>C (p.His495=) rs1480813252
NM_006218.4(PIK3CA):c.1496C>G (p.Ser499Cys) rs1724682773
NM_006218.4(PIK3CA):c.1525T>A (p.Ser509Thr) rs2108401708
NM_006218.4(PIK3CA):c.1531G>A (p.Ala511Thr)
NM_006218.4(PIK3CA):c.1535G>C (p.Gly512Ala) rs200031978
NM_006218.4(PIK3CA):c.1539+11T>C
NM_006218.4(PIK3CA):c.1539+17A>G rs2108401819
NM_006218.4(PIK3CA):c.1540-19A>G
NM_006218.4(PIK3CA):c.1540-1G>T rs2108407893
NM_006218.4(PIK3CA):c.1540-20G>A
NM_006218.4(PIK3CA):c.1540-6T>C rs200006381
NM_006218.4(PIK3CA):c.1540A>C (p.Ser514Arg) rs2108407898
NM_006218.4(PIK3CA):c.154G>C (p.Glu52Gln) rs1553820355
NM_006218.4(PIK3CA):c.1553C>G (p.Ala518Gly) rs1724885747
NM_006218.4(PIK3CA):c.1567T>C (p.Leu523=)
NM_006218.4(PIK3CA):c.1569A>C (p.Leu523Phe)
NM_006218.4(PIK3CA):c.1580A>G (p.Asp527Gly) rs1302938521
NM_006218.4(PIK3CA):c.1597G>A (p.Ala533Thr) rs1560144842
NM_006218.4(PIK3CA):c.1598C>G (p.Ala533Gly) rs1724886930
NM_006218.4(PIK3CA):c.15A>G (p.Pro5=) rs2108384979
NM_006218.4(PIK3CA):c.1600A>C (p.Ile534Leu)
NM_006218.4(PIK3CA):c.1602T>C (p.Ile534=) rs2108408180
NM_006218.4(PIK3CA):c.1618C>G (p.Leu540Val) rs2108408264
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.1629C>T (p.Ile543=)
NM_006218.4(PIK3CA):c.1631C>G (p.Thr544Ser) rs2108408335
NM_006218.4(PIK3CA):c.1635G>A (p.Glu545=) rs121913275
NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp) rs121913275
NM_006218.4(PIK3CA):c.1644A>G (p.Lys548=) rs2108408420
NM_006218.4(PIK3CA):c.1660C>T (p.His554Tyr) rs1576942444
NM_006218.4(PIK3CA):c.1664+18G>A rs104886001
NM_006218.4(PIK3CA):c.1664+3A>G rs769124869
NM_006218.4(PIK3CA):c.1664+6T>G
NM_006218.4(PIK3CA):c.1680T>C (p.Thr560=)
NM_006218.4(PIK3CA):c.1696C>T (p.Pro566Ser)
NM_006218.4(PIK3CA):c.171C>T (p.Pro57=) rs202038584
NM_006218.4(PIK3CA):c.1734T>C (p.Asp578=)
NM_006218.4(PIK3CA):c.1743C>G (p.Ala581=) rs370692448
NM_006218.4(PIK3CA):c.1746+19T>G
NM_006218.4(PIK3CA):c.1747-11C>G
NM_006218.4(PIK3CA):c.1747-15C>T
NM_006218.4(PIK3CA):c.1747-3_1747-2del rs1724918816
NM_006218.4(PIK3CA):c.1747-4A>G
NM_006218.4(PIK3CA):c.1747-6dup rs1724918747
NM_006218.4(PIK3CA):c.1747A>G (p.Met583Val) rs1553823608
NM_006218.4(PIK3CA):c.1749G>T (p.Met583Ile) rs1302992156
NM_006218.4(PIK3CA):c.1752T>C (p.Tyr584=)
NM_006218.4(PIK3CA):c.175C>T (p.His59Tyr) rs1266632047
NM_006218.4(PIK3CA):c.1766A>G (p.Asp589Gly) rs1060500028
NM_006218.4(PIK3CA):c.1775C>T (p.Pro592Leu)
NM_006218.4(PIK3CA):c.1776A>C (p.Pro592=) rs2108410693
NM_006218.4(PIK3CA):c.1794T>C (p.Ala598=) rs749558732
NM_006218.4(PIK3CA):c.1809C>T (p.Asp603=) rs558223824
NM_006218.4(PIK3CA):c.1810T>C (p.Cys604Arg) rs2108410857
NM_006218.4(PIK3CA):c.181C>A (p.Leu61Ile) rs2108385717
NM_006218.4(PIK3CA):c.1824T>A (p.Asp608Glu)
NM_006218.4(PIK3CA):c.1834C>T (p.Arg612Ter)
NM_006218.4(PIK3CA):c.1846G>A (p.Val616Ile)
NM_006218.4(PIK3CA):c.1862A>T (p.Lys621Ile)
NM_006218.4(PIK3CA):c.186T>G (p.Leu62=)
NM_006218.4(PIK3CA):c.1880A>G (p.Lys627Arg)
NM_006218.4(PIK3CA):c.189A>C (p.Gln63His) rs772678298
NM_006218.4(PIK3CA):c.189A>G (p.Gln63=)
NM_006218.4(PIK3CA):c.1911+11G>T
NM_006218.4(PIK3CA):c.1911+14A>C
NM_006218.4(PIK3CA):c.1911+8A>G rs2108411355
NM_006218.4(PIK3CA):c.1912-18T>G rs1445802132
NM_006218.4(PIK3CA):c.1912-4C>G
NM_006218.4(PIK3CA):c.1949T>C (p.Val650Ala) rs1553823718
NM_006218.4(PIK3CA):c.1959A>G (p.Leu653=) rs1553823720
NM_006218.4(PIK3CA):c.1960C>T (p.Leu654=)
NM_006218.4(PIK3CA):c.1974G>C (p.Leu658Phe)
NM_006218.4(PIK3CA):c.198T>C (p.Ser66=) rs752074639
NM_006218.4(PIK3CA):c.1997T>A (p.Phe666Tyr)
NM_006218.4(PIK3CA):c.1A>G (p.Met1Val) rs1724332515
NM_006218.4(PIK3CA):c.2015+18C>T
NM_006218.4(PIK3CA):c.2015+20del
NM_006218.4(PIK3CA):c.2015+4A>C rs1060500026
NM_006218.4(PIK3CA):c.2015+8T>C rs2108412235
NM_006218.4(PIK3CA):c.2016-11G>A rs200418058
NM_006218.4(PIK3CA):c.2016-11G>C
NM_006218.4(PIK3CA):c.2016-11G>T
NM_006218.4(PIK3CA):c.2016-14C>A
NM_006218.4(PIK3CA):c.201T>G (p.Ser67=)
NM_006218.4(PIK3CA):c.2028C>T (p.His676=) rs1724953193
NM_006218.4(PIK3CA):c.2038G>A (p.Val680Ile)
NM_006218.4(PIK3CA):c.2042G>C (p.Ser681Thr) rs1724953620
NM_006218.4(PIK3CA):c.2048G>C (p.Arg683Thr) rs1576943715
NM_006218.4(PIK3CA):c.2056C>A (p.Leu686Met) rs1724954145
NM_006218.4(PIK3CA):c.2072A>G (p.Tyr691Cys) rs1397152286
NM_006218.4(PIK3CA):c.2080G>A (p.Ala694Thr) rs200404201
NM_006218.4(PIK3CA):c.2109T>C (p.Asn703=) rs1576943768
NM_006218.4(PIK3CA):c.2119G>A (p.Glu707Lys) rs3729687
NM_006218.4(PIK3CA):c.213A>G (p.Val71=) rs879254355
NM_006218.4(PIK3CA):c.2144_2148del (p.Asn714_Leu715insTer)
NM_006218.4(PIK3CA):c.2148T>G (p.Thr716=)
NM_006218.4(PIK3CA):c.2164_2166del (p.Glu722del)
NM_006218.4(PIK3CA):c.2169G>A (p.Lys723=) rs1201015891
NM_006218.4(PIK3CA):c.2172G>A (p.Lys724=) rs1036695914
NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys) rs867262025
NM_006218.4(PIK3CA):c.2181A>C (p.Thr727=)
NM_006218.4(PIK3CA):c.2187+11_2187+12del
NM_006218.4(PIK3CA):c.2187+4T>C
NM_006218.4(PIK3CA):c.2188-15T>C
NM_006218.4(PIK3CA):c.2188-19A>G
NM_006218.4(PIK3CA):c.2188-7dup rs35213509
NM_006218.4(PIK3CA):c.2188-8T>C
NM_006218.4(PIK3CA):c.2188G>A (p.Val730Ile)
NM_006218.4(PIK3CA):c.2219G>A (p.Arg740Lys) rs1560147074
NM_006218.4(PIK3CA):c.2220G>T (p.Arg740Ser)
NM_006218.4(PIK3CA):c.2241T>C (p.Ala747=)
NM_006218.4(PIK3CA):c.2242C>T (p.Leu748=) rs2108416809
NM_006218.4(PIK3CA):c.2255T>C (p.Leu752Pro)
NM_006218.4(PIK3CA):c.2262T>A (p.Pro754=) rs1239363712
NM_006218.4(PIK3CA):c.2268C>T (p.Asn756=) rs2108416902
NM_006218.4(PIK3CA):c.2269C>T (p.Pro757Ser)
NM_006218.4(PIK3CA):c.2274T>C (p.Ala758=) rs757160501
NM_006218.4(PIK3CA):c.2275C>T (p.His759Tyr)
NM_006218.4(PIK3CA):c.2277T>C (p.His759=) rs1056341727
NM_006218.4(PIK3CA):c.2287A>G (p.Asn763Asp)
NM_006218.4(PIK3CA):c.2289C>T (p.Asn763=) rs2108417002
NM_006218.4(PIK3CA):c.2294+20A>G
NM_006218.4(PIK3CA):c.2295-13A>G
NM_006218.4(PIK3CA):c.2295-8T>C rs754640150
NM_006218.4(PIK3CA):c.2295-9A>G
NM_006218.4(PIK3CA):c.2331G>A (p.Arg777=) rs771524333
NM_006218.4(PIK3CA):c.2352G>A (p.Glu784=)
NM_006218.4(PIK3CA):c.2361CAT[1] (p.Ile788del) rs1576945593
NM_006218.4(PIK3CA):c.2362A>T (p.Ile788Phe) rs1356168549
NM_006218.4(PIK3CA):c.2365A>G (p.Met789Val) rs2108418054
NM_006218.4(PIK3CA):c.2368T>C (p.Ser790Pro) rs2108418067
NM_006218.4(PIK3CA):c.2371G>T (p.Glu791Ter) rs1060500030
NM_006218.4(PIK3CA):c.2381T>A (p.Phe794Tyr) rs1725045573
NM_006218.4(PIK3CA):c.2416+10A>G rs1428028086
NM_006218.4(PIK3CA):c.2416+11G>T rs2108418320
NM_006218.4(PIK3CA):c.2417-18A>G
NM_006218.4(PIK3CA):c.2417-4T>A rs1060503815
NM_006218.4(PIK3CA):c.2417-4T>G rs1060503815
NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys) rs1057519929
NM_006218.4(PIK3CA):c.2421A>G (p.Leu807=) rs2108419363
NM_006218.4(PIK3CA):c.2423G>A (p.Arg808Gln) rs780837825
NM_006218.4(PIK3CA):c.2427A>G (p.Gln809=) rs2108419393
NM_006218.4(PIK3CA):c.2439A>C (p.Thr813=) rs201600506
NM_006218.4(PIK3CA):c.2439A>G (p.Thr813=) rs201600506
NM_006218.4(PIK3CA):c.2453G>A (p.Arg818His) rs371049193
NM_006218.4(PIK3CA):c.2458A>G (p.Met820Val) rs2108419521
NM_006218.4(PIK3CA):c.2466T>C (p.Asn822=)
NM_006218.4(PIK3CA):c.2475A>G (p.Gln825=) rs1725073392
NM_006218.4(PIK3CA):c.2489A>T (p.Asp830Val)
NM_006218.4(PIK3CA):c.2495+16G>C rs1193553351
NM_006218.4(PIK3CA):c.2495+19A>C
NM_006218.4(PIK3CA):c.2495+9C>T rs2108419671
NM_006218.4(PIK3CA):c.2496-10C>T
NM_006218.4(PIK3CA):c.2496-12C>T
NM_006218.4(PIK3CA):c.2496-13A>T rs1435775251
NM_006218.4(PIK3CA):c.2508T>C (p.Tyr836=) rs2108422421
NM_006218.4(PIK3CA):c.2513G>C (p.Cys838Ser) rs1725157266
NM_006218.4(PIK3CA):c.252T>C (p.Asp84=) rs1060503814
NM_006218.4(PIK3CA):c.2550G>C (p.Val850=)
NM_006218.4(PIK3CA):c.2558A>G (p.Asn853Ser) rs1725159134
NM_006218.4(PIK3CA):c.2568T>A (p.Thr856=) rs1440145288
NM_006218.4(PIK3CA):c.2595C>T (p.Gly865=) rs1725159820
NM_006218.4(PIK3CA):c.2604T>A (p.Gly868=)
NM_006218.4(PIK3CA):c.2612A>T (p.Gln871Leu) rs2108422970
NM_006218.4(PIK3CA):c.2624A>G (p.His875Arg)
NM_006218.4(PIK3CA):c.2626A>G (p.Thr876Ala) rs1576947670
NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln) rs121913287
NM_006218.4(PIK3CA):c.2666+10A>G rs554685447
NM_006218.4(PIK3CA):c.2666+17T>C
NM_006218.4(PIK3CA):c.2666+20C>T
NM_006218.4(PIK3CA):c.2666+3G>A rs1576947706
NM_006218.4(PIK3CA):c.2667-11A>G
NM_006218.4(PIK3CA):c.2667-20G>A
NM_006218.4(PIK3CA):c.2667A>T (p.Ile889=) rs17849078
NM_006218.4(PIK3CA):c.2668T>G (p.Tyr890Asp)
NM_006218.4(PIK3CA):c.2673T>C (p.Asp891=) rs2108423966
NM_006218.4(PIK3CA):c.2679C>T (p.Ala893=) rs1576947998
NM_006218.4(PIK3CA):c.267T>G (p.Leu89=) rs372013414
NM_006218.4(PIK3CA):c.2695C>T (p.Arg899Cys)
NM_006218.4(PIK3CA):c.2696G>A (p.Arg899His) rs1725176691
NM_006218.4(PIK3CA):c.2728A>G (p.Ile910Val) rs1553825421
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) rs587776932
NM_006218.4(PIK3CA):c.274C>A (p.Leu92Ile) rs1724342021
NM_006218.4(PIK3CA):c.2784+5T>C
NM_006218.4(PIK3CA):c.2785-4A>G rs1725180228
NM_006218.4(PIK3CA):c.2785-5G>T rs2108424731
NM_006218.4(PIK3CA):c.2785C>T (p.Leu929=)
NM_006218.4(PIK3CA):c.2787G>C (p.Leu929=)
NM_006218.4(PIK3CA):c.2823G>A (p.Lys941=)
NM_006218.4(PIK3CA):c.2845C>T (p.Arg949Ter) rs2108425013
NM_006218.4(PIK3CA):c.2856G>A (p.Val952=) rs1282232507
NM_006218.4(PIK3CA):c.2861T>A (p.Phe954Tyr) rs2108425090
NM_006218.4(PIK3CA):c.2872C>A (p.Gln958Lys) rs1576948107
NM_006218.4(PIK3CA):c.2882T>C (p.Leu961Ser)
NM_006218.4(PIK3CA):c.2908G>A (p.Glu970Lys) rs2108425281
NM_006218.4(PIK3CA):c.2910A>G (p.Glu970=)
NM_006218.4(PIK3CA):c.2913C>T (p.Cys971=) rs2108425304
NM_006218.4(PIK3CA):c.2915C>T (p.Thr972Ile) rs1553825480
NM_006218.4(PIK3CA):c.2922A>G (p.Thr974=)
NM_006218.4(PIK3CA):c.2936+11G>A
NM_006218.4(PIK3CA):c.2936+18A>G rs770971084
NM_006218.4(PIK3CA):c.2936+8C>A
NM_006218.4(PIK3CA):c.2937-13T>C
NM_006218.4(PIK3CA):c.2946G>A (p.Glu982=) rs2108428967
NM_006218.4(PIK3CA):c.2948T>A (p.Met983Lys)
NM_006218.4(PIK3CA):c.2958G>A (p.Lys986=) rs2108429006
NM_006218.4(PIK3CA):c.2964T>C (p.Tyr988=) rs1725278470
NM_006218.4(PIK3CA):c.2969C>G (p.Ala990Gly) rs1725278653
NM_006218.4(PIK3CA):c.2975G>A (p.Arg992Gln) rs1560150481
NM_006218.4(PIK3CA):c.2987A>G (p.Asn996Ser)
NM_006218.4(PIK3CA):c.2991C>T (p.Leu997=) rs1381822974
NM_006218.4(PIK3CA):c.2997A>C (p.Ile999=)
NM_006218.4(PIK3CA):c.29_53del (p.Leu10fs) rs1560137030
NM_006218.4(PIK3CA):c.3009A>G (p.Ser1003=) rs2108429258
NM_006218.4(PIK3CA):c.3012G>T (p.Met1004Ile)
NM_006218.4(PIK3CA):c.301G>C (p.Val101Leu) rs1724342655
NM_006218.4(PIK3CA):c.3024T>C (p.Ser1008=)
NM_006218.4(PIK3CA):c.3056T>C (p.Ile1019Thr) rs1725280610
NM_006218.4(PIK3CA):c.3060A>G (p.Ala1020=) rs1725280697
NM_006218.4(PIK3CA):c.3062A>G (p.Tyr1021Cys) rs121913288
NM_006218.4(PIK3CA):c.3081C>G (p.Ala1027=) rs745464581
NM_006218.4(PIK3CA):c.3087T>C (p.Asp1029=)
NM_006218.4(PIK3CA):c.30G>A (p.Leu10=) rs758862912
NM_006218.4(PIK3CA):c.311C>G (p.Pro104Arg) rs863225060
NM_006218.4(PIK3CA):c.311C>T (p.Pro104Leu) rs863225060
NM_006218.4(PIK3CA):c.3126A>G (p.Gln1042=) rs1725282114
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile) rs121913283
NM_006218.4(PIK3CA):c.3129G>T (p.Met1043Ile) rs121913283
NM_006218.4(PIK3CA):c.3131A>G (p.Asn1044Ser) rs1064793838
NM_006218.4(PIK3CA):c.3132T>A (p.Asn1044Lys) rs1576949960
NM_006218.4(PIK3CA):c.3138A>C (p.Ala1046=) rs1215652300
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.4(PIK3CA):c.3139_3140delinsAT (p.His1047Ile) rs1725283257
NM_006218.4(PIK3CA):c.3144T>C (p.His1048=) rs1725283801
NM_006218.4(PIK3CA):c.3145G>T (p.Gly1049Cys) rs121913277
NM_006218.4(PIK3CA):c.314T>C (p.Val105Ala)
NM_006218.4(PIK3CA):c.315A>G (p.Val105=)
NM_006218.4(PIK3CA):c.317G>T (p.Gly106Val) rs1057519930
NM_006218.4(PIK3CA):c.3180C>T (p.His1060=)
NM_006218.4(PIK3CA):c.3194A>T (p.His1065Leu) rs1560150596
NM_006218.4(PIK3CA):c.3197C>T (p.Ala1066Val) rs1253171657
NM_006218.4(PIK3CA):c.3198A>T (p.Ala1066=)
NM_006218.4(PIK3CA):c.3203A>T (p.Asn1068Ile) rs1725284914
NM_006218.4(PIK3CA):c.321C>T (p.Asn107=) rs1576932042
NM_006218.4(PIK3CA):c.321_323del (p.Arg108del) rs1553820399
NM_006218.4(PIK3CA):c.327A>C (p.Glu109Asp) rs1060500031
NM_006218.4(PIK3CA):c.333G>C (p.Lys111Asn) rs1057519934
NM_006218.4(PIK3CA):c.344G>T (p.Arg115Leu)
NM_006218.4(PIK3CA):c.352+10A>C rs2108386513
NM_006218.4(PIK3CA):c.352+6A>G
NM_006218.4(PIK3CA):c.352+9C>T rs1177991438
NM_006218.4(PIK3CA):c.353-17A>G
NM_006218.4(PIK3CA):c.353-18T>C
NM_006218.4(PIK3CA):c.353-2dup rs1181503590
NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) rs587777790
NM_006218.4(PIK3CA):c.367A>G (p.Met123Val) rs1724359925
NM_006218.4(PIK3CA):c.373G>A (p.Val125Met) rs1724360010
NM_006218.4(PIK3CA):c.37A>G (p.Ile13Val) rs2108385090
NM_006218.4(PIK3CA):c.386A>G (p.Asp129Gly) rs1553820490
NM_006218.4(PIK3CA):c.389T>C (p.Met130Thr) rs1724360472
NM_006218.4(PIK3CA):c.396A>C (p.Lys132Asn)
NM_006218.4(PIK3CA):c.402A>T (p.Pro134=) rs1051402
NM_006218.4(PIK3CA):c.40C>T (p.His14Tyr) rs1576931874
NM_006218.4(PIK3CA):c.417C>T (p.Phe139=) rs2108387358
NM_006218.4(PIK3CA):c.42C>T (p.His14=)
NM_006218.4(PIK3CA):c.449C>T (p.Ala150Val)
NM_006218.4(PIK3CA):c.451G>A (p.Val151Met)
NM_006218.4(PIK3CA):c.45G>C (p.Leu15Phe)
NM_006218.4(PIK3CA):c.463G>C (p.Asp155His) rs1724363908
NM_006218.4(PIK3CA):c.466C>G (p.Leu156Val)
NM_006218.4(PIK3CA):c.476C>T (p.Pro159Leu) rs200762923
NM_006218.4(PIK3CA):c.476_478del (p.Pro159del) rs1724364548
NM_006218.4(PIK3CA):c.480T>C (p.His160=) rs2108387648
NM_006218.4(PIK3CA):c.481A>G (p.Ser161Gly)
NM_006218.4(PIK3CA):c.489A>G (p.Ala163=) rs201815341
NM_006218.4(PIK3CA):c.493T>C (p.Tyr165His)
NM_006218.4(PIK3CA):c.522A>T (p.Ser174=) rs1424220720
NM_006218.4(PIK3CA):c.524C>T (p.Pro175Leu) rs1175225456
NM_006218.4(PIK3CA):c.54A>C (p.Pro18=)
NM_006218.4(PIK3CA):c.559A>G (p.Lys187Glu) rs1576932528
NM_006218.4(PIK3CA):c.560A>C (p.Lys187Thr) rs1553820520
NM_006218.4(PIK3CA):c.562+16A>G
NM_006218.4(PIK3CA):c.563-14T>A
NM_006218.4(PIK3CA):c.563-16T>C rs2108389237
NM_006218.4(PIK3CA):c.579G>A (p.Val193=) rs2108389337
NM_006218.4(PIK3CA):c.586G>A (p.Val196Ile) rs541134560
NM_006218.4(PIK3CA):c.586G>T (p.Val196Leu)
NM_006218.4(PIK3CA):c.594T>C (p.Val198=) rs2108389396
NM_006218.4(PIK3CA):c.596C>A (p.Ser199Tyr)
NM_006218.4(PIK3CA):c.609C>T (p.Asp203=)
NM_006218.4(PIK3CA):c.611A>C (p.Lys204Thr) rs1724404532
NM_006218.4(PIK3CA):c.611A>G (p.Lys204Arg) rs1724404532
NM_006218.4(PIK3CA):c.618G>A (p.Lys206=)
NM_006218.4(PIK3CA):c.61C>A (p.Leu21Ile)
NM_006218.4(PIK3CA):c.61C>T (p.Leu21=) rs781473521
NM_006218.4(PIK3CA):c.621T>C (p.Tyr207=)
NM_006218.4(PIK3CA):c.636C>T (p.Asn212=) rs1060503811
NM_006218.4(PIK3CA):c.649C>T (p.Pro217Ser)
NM_006218.4(PIK3CA):c.661A>G (p.Ile221Val) rs1724405654
NM_006218.4(PIK3CA):c.676A>C (p.Arg226=)
NM_006218.4(PIK3CA):c.699G>A (p.Leu233=)
NM_006218.4(PIK3CA):c.705C>A (p.Ser235=) rs879254356
NM_006218.4(PIK3CA):c.705C>T (p.Ser235=) rs879254356
NM_006218.4(PIK3CA):c.717A>G (p.Leu239=)
NM_006218.4(PIK3CA):c.719A>C (p.Lys240Thr) rs2108389866
NM_006218.4(PIK3CA):c.742G>A (p.Gly248Ser) rs1553820694
NM_006218.4(PIK3CA):c.747G>A (p.Lys249=)
NM_006218.4(PIK3CA):c.753T>A (p.Ile251=)
NM_006218.4(PIK3CA):c.762G>A (p.Val254=)
NM_006218.4(PIK3CA):c.764G>A (p.Cys255Tyr) rs1060500032
NM_006218.4(PIK3CA):c.768A>G (p.Gly256=)
NM_006218.4(PIK3CA):c.788A>G (p.Glu263Gly)
NM_006218.4(PIK3CA):c.813+15_813+16delinsAT rs2108390298
NM_006218.4(PIK3CA):c.814-15del
NM_006218.4(PIK3CA):c.831_833del (p.Ile277del) rs2108392531
NM_006218.4(PIK3CA):c.835C>T (p.Leu279Phe) rs1260908401
NM_006218.4(PIK3CA):c.847C>G (p.Pro283Ala)
NM_006218.4(PIK3CA):c.849C>T (p.Pro283=) rs1553821070
NM_006218.4(PIK3CA):c.851A>G (p.Asn284Ser)
NM_006218.4(PIK3CA):c.851dup (p.Asn284fs) rs1576934610
NM_006218.4(PIK3CA):c.853T>C (p.Leu285=)
NM_006218.4(PIK3CA):c.863T>C (p.Met288Thr) rs2108392669
NM_006218.4(PIK3CA):c.876C>T (p.Ser292=) rs1244477182
NM_006218.4(PIK3CA):c.894A>G (p.Pro298=)
NM_006218.4(PIK3CA):c.895A>G (p.Met299Val) rs779900475
NM_006218.4(PIK3CA):c.910A>G (p.Met304Val) rs754602413
NM_006218.4(PIK3CA):c.91A>C (p.Ile31Leu) rs1724335079
NM_006218.4(PIK3CA):c.928C>T (p.Arg310Cys) rs780572147
NM_006218.4(PIK3CA):c.932T>C (p.Ile311Thr)
NM_006218.4(PIK3CA):c.939A>G (p.Thr313=) rs1382139686
NM_006218.4(PIK3CA):c.952A>G (p.Met318Val)
NM_006218.4(PIK3CA):c.955A>G (p.Asn319Asp) rs1724480940
NM_006218.4(PIK3CA):c.971C>T (p.Thr324Ile)
NM_006218.4(PIK3CA):c.995G>T (p.Ser332Ile) rs1262394031
NM_006218.4(PIK3CA):c.997G>T (p.Ala333Ser) rs1724482664
NM_006218.4(PIK3CA):c.998C>T (p.Ala333Val) rs759611407

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.