ClinVar Miner

List of variants studied for Cowden syndrome 1

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1223
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HGVS dbSNP gnomAD frequency
NM_006218.4(PIK3CA):c.1060-17C>A rs2699896 0.55517
NM_000314.8(PTEN):c.1026+32T>G rs555895 0.40232
NM_006218.4(PIK3CA):c.1173A>G (p.Ile391Met) rs2230461 0.10578
NM_006218.4(PIK3CA):c.1747-13T>C rs41273619 0.05277
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly) rs11203289 0.01309
NM_006218.4(PIK3CA):c.3075C>T (p.Thr1025=) rs17849079 0.01239
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
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.-138C>T rs149946088 0.00383
NM_006218.4(PIK3CA):c.*29T>C rs141178472 0.00333
NM_006218.4(PIK3CA):c.1146-30G>A rs8192676 0.00308
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_001126049.2(KLLN):c.-898G>A rs538728843 0.00262
NM_006218.4(PIK3CA):c.2016-29A>T rs374926790 0.00242
NM_003000.3(SDHB):c.170A>G (p.His57Arg) rs35962811 0.00231
NM_000314.8(PTEN):c.210-39A>G rs370918174 0.00177
NM_000314.8(PTEN):c.132C>T (p.Gly44=) rs150651961 0.00168
NM_000314.8(PTEN):c.1104T>C (p.Asp368=) rs35979531 0.00158
NM_000314.8(PTEN):c.-9C>G rs11202592 0.00139
NM_006218.4(PIK3CA):c.2181A>T (p.Thr727=) rs116336243 0.00117
NM_000314.8(PTEN):c.801+23G>A rs116160352 0.00091
NM_000314.8(PTEN):c.-666G>A rs553371022 0.00069
NM_006218.4(PIK3CA):c.1747-9C>T rs201779641 0.00046
NM_001126049.2(KLLN):c.-792C>T rs587779982 0.00044
NM_003000.3(SDHB):c.158G>A (p.Gly53Glu) rs34916635 0.00041
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_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584 0.00029
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_000314.8(PTEN):c.234C>T (p.Thr78=) rs35917308 0.00016
NM_006218.4(PIK3CA):c.318C>A (p.Gly106=) rs201193059 0.00016
NM_000314.8(PTEN):c.802-12T>C rs587781129 0.00015
NM_000314.6(PTEN):c.-859A>G rs876661029 0.00013
NM_000314.6(PTEN):c.-909T>C rs550385924 0.00013
NM_001126049.2(KLLN):c.-777C>T rs961642255 0.00013
NM_000314.8(PTEN):c.1197A>G (p.Gln399=) rs374684043 0.00012
NM_006218.4(PIK3CA):c.1125A>G (p.Arg375=) rs200568210 0.00012
NM_000314.8(PTEN):c.-835C>T rs587779994 0.00011
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
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_000314.8(PTEN):c.579G>A (p.Leu193=) rs568851024 0.00010
NM_000314.8(PTEN):c.802-54_802-16del rs1028746954 0.00010
NM_003000.3(SDHB):c.440A>G (p.Tyr147Cys) rs774568101 0.00010
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_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815 0.00009
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_000314.8(PTEN):c.-111G>T rs761148721 0.00006
NM_000314.8(PTEN):c.493-31A>G rs550267891 0.00006
NM_000314.8(PTEN):c.720C>T (p.Tyr240=) rs190070312 0.00006
NM_003000.3(SDHB):c.112C>T (p.Arg38Cys) rs202119350 0.00006
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_000314.8(PTEN):c.802-2A>T rs587782455 0.00005
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_000314.8(PTEN):c.-121A>G rs886047395 0.00004
NM_001126049.2(KLLN):c.-1039G>A rs587779999 0.00004
NM_001126049.2(KLLN):c.-806A>C rs587782761 0.00004
NM_003000.3(SDHB):c.307A>G (p.Met103Val) rs140178341 0.00004
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_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000314.8(PTEN):c.493-52A>G rs1043121029 0.00003
NM_000314.8(PTEN):c.635-16G>A rs750772657 0.00003
NM_001126049.2(KLLN):c.-845C>T rs587782068 0.00003
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_000314.8(PTEN):c.-765G>A rs587776674 0.00002
NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly) rs587781273 0.00002
NM_000314.8(PTEN):c.261A>G (p.Gln87=) rs149772796 0.00002
NM_000314.8(PTEN):c.900C>T (p.Ile300=) rs550122918 0.00002
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_000314.8(PTEN):c.1093G>A (p.Val365Ile) rs758542021 0.00001
NM_000314.8(PTEN):c.180del (p.Lys60fs) rs1589640429 0.00001
NM_000314.8(PTEN):c.210-12C>T rs766570103 0.00001
NM_000314.8(PTEN):c.210-17T>C rs750987148 0.00001
NM_000314.8(PTEN):c.210-26A>G rs776849737 0.00001
NM_000314.8(PTEN):c.210-9T>C rs751744545 0.00001
NM_000314.8(PTEN):c.269T>C (p.Phe90Ser) rs1859965098 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) rs121913293 0.00001
NM_000314.8(PTEN):c.518G>A (p.Arg173His) rs121913294 0.00001
NM_000314.8(PTEN):c.586del (p.His196fs) rs587776670 0.00001
NM_000314.8(PTEN):c.613A>G (p.Met205Val) rs776763121 0.00001
NM_000314.8(PTEN):c.738G>A (p.Pro246=) rs774364894 0.00001
NM_000314.8(PTEN):c.77C>T (p.Thr26Ile) rs786204853 0.00001
NM_000314.8(PTEN):c.78C>T (p.Thr26=) rs786201280 0.00001
NM_000314.8(PTEN):c.79+7A>G rs374331677 0.00001
NM_000314.8(PTEN):c.801+8C>G rs1057517630 0.00001
NM_003000.3(SDHB):c.638T>C (p.Met213Thr) rs202014362 0.00001
NM_003000.3(SDHB):c.769C>G (p.Leu257Val) rs761350633 0.00001
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
C124S
GRCh37/hg19 10q23.31(chr10:89653441-89654197)
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
NC_000010.11:g.87952119del rs2132268865
NC_000010.11:g.87957853_87957860del
NC_000010.11:g.87965287del rs2132289111
NM_000314.6(PTEN):c.-868G>C rs587782133
NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs) rs587776672
NM_000314.7(PTEN):c.-861G>T rs587776675
NM_000314.8(PTEN):c.*10del rs756681683
NM_000314.8(PTEN):c.*10dup rs756681683
NM_000314.8(PTEN):c.-17G>C rs1064793744
NM_000314.8(PTEN):c.-1_22del (p.Met1fs)
NM_000314.8(PTEN):c.-500GGC[6] rs1237307954
NM_000314.8(PTEN):c.-687G>A
NM_000314.8(PTEN):c.-735G>A rs886047384
NM_000314.8(PTEN):c.-752G>A rs1256922808
NM_000314.8(PTEN):c.-752GGC[4] rs933847861
NM_000314.8(PTEN):c.-822G>T rs587779993
NM_000314.8(PTEN):c.-844T>C rs587779995
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.1003_1019del (p.Arg335fs)
NM_000314.8(PTEN):c.1004G>T (p.Arg335Leu) rs1085308040
NM_000314.8(PTEN):c.1006dup (p.Tyr336fs) rs1554825631
NM_000314.8(PTEN):c.1007dup (p.Tyr336Ter) rs2132283619
NM_000314.8(PTEN):c.1008C>A (p.Tyr336Ter)
NM_000314.8(PTEN):c.1008C>G (p.Tyr336Ter) rs786201816
NM_000314.8(PTEN):c.100G>C (p.Ala34Pro) rs1589617199
NM_000314.8(PTEN):c.1010_1014del (p.Phe337fs)
NM_000314.8(PTEN):c.1012del (p.Ser338fs) rs1564568660
NM_000314.8(PTEN):c.1016_1017del (p.Pro339fs)
NM_000314.8(PTEN):c.1016del (p.Pro339fs) rs1554825643
NM_000314.8(PTEN):c.1019del (p.Asn340fs)
NM_000314.8(PTEN):c.1021T>G (p.Phe341Val) rs1554825652
NM_000314.8(PTEN):c.1023del (p.Phe341fs) rs1564568689
NM_000314.8(PTEN):c.1024A>T (p.Lys342Ter)
NM_000314.8(PTEN):c.1026+1G>A rs786201041
NM_000314.8(PTEN):c.1026+1G>C rs786201041
NM_000314.8(PTEN):c.1026+1G>T rs786201041
NM_000314.8(PTEN):c.1026+1_1026+2delinsTC
NM_000314.8(PTEN):c.1026+2T>A
NM_000314.8(PTEN):c.1026+2T>C
NM_000314.8(PTEN):c.1026+2T>G rs1114167624
NM_000314.8(PTEN):c.1026+2_1026+19delinsG
NM_000314.8(PTEN):c.1026+38dup rs767896771
NM_000314.8(PTEN):c.1027-11_1028del
NM_000314.8(PTEN):c.1027-1G>A rs1057517809
NM_000314.8(PTEN):c.1027-1G>C rs1057517809
NM_000314.8(PTEN):c.1027-1G>T
NM_000314.8(PTEN):c.1027-29_1029del
NM_000314.8(PTEN):c.1027-2A>C rs1085308041
NM_000314.8(PTEN):c.1027-2A>G rs1085308041
NM_000314.8(PTEN):c.1027-2A>T rs1085308041
NM_000314.8(PTEN):c.1027-4_1027-2delinsGTC
NM_000314.8(PTEN):c.103A>C (p.Met35Leu) rs876659443
NM_000314.8(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.8(PTEN):c.104T>C (p.Met35Thr) rs121909225
NM_000314.8(PTEN):c.104T>G (p.Met35Arg) rs121909225
NM_000314.8(PTEN):c.105G>A (p.Met35Ile) rs1554893782
NM_000314.8(PTEN):c.105_106delinsTC (p.Met35_Gly36delinsIleArg)
NM_000314.8(PTEN):c.1061C>T (p.Pro354Leu) rs375709098
NM_000314.8(PTEN):c.1069C>A (p.Pro357Thr) rs876661264
NM_000314.8(PTEN):c.106G>A (p.Gly36Arg) rs786204854
NM_000314.8(PTEN):c.107G>A (p.Gly36Glu) rs1554893792
NM_000314.8(PTEN):c.107del (p.Gly36fs)
NM_000314.8(PTEN):c.1189C>T (p.His397Tyr) rs1589669413
NM_000314.8(PTEN):c.118G>T (p.Glu40Ter) rs869312778
NM_000314.8(PTEN):c.121A>T (p.Arg41Ter)
NM_000314.8(PTEN):c.122_135del (p.Arg41fs)
NM_000314.8(PTEN):c.126_164+5del
NM_000314.8(PTEN):c.131G>A (p.Gly44Asp) rs1085308042
NM_000314.8(PTEN):c.131dup (p.Val45fs) rs1564814541
NM_000314.8(PTEN):c.143A>G (p.Asn48Ser) rs1859098783
NM_000314.8(PTEN):c.143_146del (p.Asn48fs)
NM_000314.8(PTEN):c.143del (p.Asn48fs)
NM_000314.8(PTEN):c.144C>A (p.Asn48Lys) rs762518389
NM_000314.8(PTEN):c.144C>G (p.Asn48Lys) rs762518389
NM_000314.8(PTEN):c.148_149dup (p.Asp51fs)
NM_000314.8(PTEN):c.154_164+1delinsAATATTGTTAATAA
NM_000314.8(PTEN):c.157delinsTA (p.Val53fs)
NM_000314.8(PTEN):c.164+1G>A rs1554893835
NM_000314.8(PTEN):c.164+1G>T rs1554893835
NM_000314.8(PTEN):c.164+1_164+9delinsTTAC
NM_000314.8(PTEN):c.164+2T>A
NM_000314.8(PTEN):c.165-17G>C rs898943632
NM_000314.8(PTEN):c.165-17_165del rs1554897240
NM_000314.8(PTEN):c.165-1G>A rs786203847
NM_000314.8(PTEN):c.165-1G>C rs786203847
NM_000314.8(PTEN):c.165-24TTTG[2] rs786204877
NM_000314.8(PTEN):c.165-2A>G rs1085308043
NM_000314.8(PTEN):c.165-36_195del
NM_000314.8(PTEN):c.165-8_165-4del rs760571273
NM_000314.8(PTEN):c.170_185del (p.Phe56_Leu57insTer)
NM_000314.8(PTEN):c.170del (p.Leu57fs)
NM_000314.8(PTEN):c.170dup (p.Leu57fs)
NM_000314.8(PTEN):c.176C>G (p.Ser59Ter) rs1060500116
NM_000314.8(PTEN):c.178A>C (p.Lys60Gln)
NM_000314.8(PTEN):c.17_18del (p.Lys6fs) rs121913290
NM_000314.8(PTEN):c.182A>G (p.His61Arg) rs398123316
NM_000314.8(PTEN):c.187_209+4del
NM_000314.8(PTEN):c.188del (p.Asn63fs) rs1554897267
NM_000314.8(PTEN):c.194_209+28del
NM_000314.8(PTEN):c.195C>A (p.Tyr65Ter) rs878853936
NM_000314.8(PTEN):c.195C>G (p.Tyr65Ter) rs878853936
NM_000314.8(PTEN):c.19G>T (p.Glu7Ter) rs1554890335
NM_000314.8(PTEN):c.1A>G (p.Met1Val) rs1554890324
NM_000314.8(PTEN):c.201dup (p.Tyr68fs) rs2132232362
NM_000314.8(PTEN):c.202T>A (p.Tyr68Asn) rs398123317
NM_000314.8(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000314.8(PTEN):c.203A>C (p.Tyr68Ser) rs876660634
NM_000314.8(PTEN):c.203A>G (p.Tyr68Cys) rs876660634
NM_000314.8(PTEN):c.204C>G (p.Tyr68Ter) rs773176120
NM_000314.8(PTEN):c.209+1G>A rs1554897280
NM_000314.8(PTEN):c.209+2T>A rs878853937
NM_000314.8(PTEN):c.209+2T>C rs878853937
NM_000314.8(PTEN):c.209+4_209+7del rs398123318
NM_000314.8(PTEN):c.209+5G>A rs1114167650
NM_000314.8(PTEN):c.209T>C (p.Leu70Pro) rs121909226
NM_000314.8(PTEN):c.210-1G>A rs1114167621
NM_000314.8(PTEN):c.210-1G>C rs1114167621
NM_000314.8(PTEN):c.210-26A>T rs776849737
NM_000314.8(PTEN):c.210-27_223delinsATCTTATTAACTTATTATAACTTATTATGACTTATTATAACTT
NM_000314.8(PTEN):c.210-2A>C rs1564828914
NM_000314.8(PTEN):c.210-2A>G rs1564828914
NM_000314.8(PTEN):c.210-2_211del rs1554897854
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.210-8del rs1554897849
NM_000314.8(PTEN):c.211delT (p.Cys71fs)
NM_000314.8(PTEN):c.212G>A (p.Cys71Tyr) rs1554897856
NM_000314.8(PTEN):c.21_22del (p.Glu7fs) rs786204881
NM_000314.8(PTEN):c.223_227dup (p.Asp77fs)
NM_000314.8(PTEN):c.225_226insG (p.Tyr76fs)
NM_000314.8(PTEN):c.227_228del (p.His75_Tyr76insTer)
NM_000314.8(PTEN):c.228T>A (p.Tyr76Ter)
NM_000314.8(PTEN):c.228T>G (p.Tyr76Ter) rs1554897866
NM_000314.8(PTEN):c.234del (p.Ala79fs)
NM_000314.8(PTEN):c.235G>T (p.Ala79Ser) rs202004587
NM_000314.8(PTEN):c.240del (p.Lys80fs)
NM_000314.8(PTEN):c.243_245delinsAT (p.Phe81fs)
NM_000314.8(PTEN):c.250A>T (p.Arg84Ter) rs1554897880
NM_000314.8(PTEN):c.253+1G>A rs587776667
NM_000314.8(PTEN):c.253+1G>C rs587776667
NM_000314.8(PTEN):c.253+1G>T rs587776667
NM_000314.8(PTEN):c.253+2T>A rs1224040268
NM_000314.8(PTEN):c.253+5G>A rs1554897889
NM_000314.8(PTEN):c.253+5G>T rs1554897889
NM_000314.8(PTEN):c.254-19_326del
NM_000314.8(PTEN):c.254-20A>G
NM_000314.8(PTEN):c.254-21G>C rs1859963198
NM_000314.8(PTEN):c.254-30dup rs77494260
NM_000314.8(PTEN):c.254-40A>G rs767049245
NM_000314.8(PTEN):c.254-51A>T rs1554898040
NM_000314.8(PTEN):c.254-6C>T rs1057520525
NM_000314.8(PTEN):c.254-72A>T rs1554898037
NM_000314.8(PTEN):c.259C>T (p.Gln87Ter) rs1554898053
NM_000314.8(PTEN):c.263_264del (p.Tyr88fs) rs1859964600
NM_000314.8(PTEN):c.264T>A (p.Tyr88Ter) rs1554898056
NM_000314.8(PTEN):c.264T>G (p.Tyr88Ter)
NM_000314.8(PTEN):c.265C>T (p.Pro89Ser) rs587783059
NM_000314.8(PTEN):c.270del (p.Phe90fs) rs1114167678
NM_000314.8(PTEN):c.271G>T (p.Glu91Ter)
NM_000314.8(PTEN):c.271_279del (p.Glu91_His93del)
NM_000314.8(PTEN):c.276C>G (p.Asp92Glu) rs779530981
NM_000314.8(PTEN):c.277C>T (p.His93Tyr) rs786204927
NM_000314.8(PTEN):c.278A>G (p.His93Arg) rs121909238
NM_000314.8(PTEN):c.281dup (p.Asn94fs)
NM_000314.8(PTEN):c.287C>A (p.Pro96Gln) rs1554898074
NM_000314.8(PTEN):c.287C>G (p.Pro96Arg) rs1554898074
NM_000314.8(PTEN):c.287dup (p.Gln97fs)
NM_000314.8(PTEN):c.296_297insTA (p.Glu99fs)
NM_000314.8(PTEN):c.29del (p.Ser10fs)
NM_000314.8(PTEN):c.2T>C (p.Met1Thr) rs1858394001
NM_000314.8(PTEN):c.2T>G (p.Met1Arg)
NM_000314.8(PTEN):c.300dup (p.Ile101fs) rs1554898083
NM_000314.8(PTEN):c.301_310del (p.Ile101fs)
NM_000314.8(PTEN):c.302T>C (p.Ile101Thr) rs1339631701
NM_000314.8(PTEN):c.302_304delinsCC (p.Ile101fs)
NM_000314.8(PTEN):c.304_308dup (p.Phe104fs) rs1554898085
NM_000314.8(PTEN):c.306del (p.Lys102fs) rs587782641
NM_000314.8(PTEN):c.312_316del (p.Phe104fs)
NM_000314.8(PTEN):c.314dup (p.Cys105fs)
NM_000314.8(PTEN):c.315_316dup (p.Glu106fs) rs1554898090
NM_000314.8(PTEN):c.315dup (p.Glu106Ter) rs1554898091
NM_000314.8(PTEN):c.319G>T (p.Asp107Tyr) rs57374291
NM_000314.8(PTEN):c.31A>T (p.Arg11Ter)
NM_000314.8(PTEN):c.320A>T (p.Asp107Val) rs786204858
NM_000314.8(PTEN):c.323T>C (p.Leu108Pro) rs1064793243
NM_000314.8(PTEN):c.324del (p.Asp109fs)
NM_000314.8(PTEN):c.328C>T (p.Gln110Ter) rs1114167629
NM_000314.8(PTEN):c.331T>C (p.Trp111Arg) rs398123321
NM_000314.8(PTEN):c.332G>A (p.Trp111Ter)
NM_000314.8(PTEN):c.333G>A (p.Trp111Ter) rs1554898097
NM_000314.8(PTEN):c.335T>C (p.Leu112Pro) rs121909230
NM_000314.8(PTEN):c.335T>G (p.Leu112Arg)
NM_000314.8(PTEN):c.339_343del (p.Ser113fs)
NM_000314.8(PTEN):c.340G>T (p.Glu114Ter)
NM_000314.8(PTEN):c.344A>G (p.Asp115Gly) rs869312775
NM_000314.8(PTEN):c.347_351del (p.Asp116fs) rs587776666
NM_000314.8(PTEN):c.352_353delinsG (p.His118fs)
NM_000314.8(PTEN):c.357_359delinsAT (p.Val119_Ala120insTer)
NM_000314.8(PTEN):c.362C>A (p.Ala121Glu)
NM_000314.8(PTEN):c.365T>G (p.Ile122Ser) rs1589646321
NM_000314.8(PTEN):c.367C>G (p.His123Asp) rs786204931
NM_000314.8(PTEN):c.367C>T (p.His123Tyr) rs786204931
NM_000314.8(PTEN):c.368A>G (p.His123Arg) rs121909222
NM_000314.8(PTEN):c.370T>A (p.Cys124Ser) rs121909223
NM_000314.8(PTEN):c.370T>C (p.Cys124Arg) rs121909223
NM_000314.8(PTEN):c.370_445dup (p.Gln149delinsLeuTer)
NM_000314.8(PTEN):c.370del (p.Cys124fs) rs1554898123
NM_000314.8(PTEN):c.371G>A (p.Cys124Tyr) rs876660535
NM_000314.8(PTEN):c.371G>C (p.Cys124Ser)
NM_000314.8(PTEN):c.372T>G (p.Cys124Trp)
NM_000314.8(PTEN):c.372_394del (p.Cys124fs)
NM_000314.8(PTEN):c.373A>G (p.Lys125Glu) rs1554898127
NM_000314.8(PTEN):c.376G>C (p.Ala126Pro) rs1554898129
NM_000314.8(PTEN):c.377C>A (p.Ala126Asp)
NM_000314.8(PTEN):c.379G>A (p.Gly127Arg) rs587781255
NM_000314.8(PTEN):c.379G>C (p.Gly127Arg)
NM_000314.8(PTEN):c.379G>T (p.Gly127Ter) rs587781255
NM_000314.8(PTEN):c.37A>G (p.Lys13Glu) rs1554890348
NM_000314.8(PTEN):c.380delinsAA (p.Gly127fs)
NM_000314.8(PTEN):c.385G>A (p.Gly129Arg) rs786204929
NM_000314.8(PTEN):c.385G>C (p.Gly129Arg) rs786204929
NM_000314.8(PTEN):c.386G>A (p.Gly129Glu) rs121909218
NM_000314.8(PTEN):c.386G>T (p.Gly129Val) rs121909218
NM_000314.8(PTEN):c.386del (p.Gly129fs) rs1554898139
NM_000314.8(PTEN):c.388C>G (p.Arg130Gly) rs121909224
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu) rs121909229
NM_000314.8(PTEN):c.389del (p.Arg130fs) rs121913292
NM_000314.8(PTEN):c.394G>A (p.Gly132Ser) rs1859977029
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.8(PTEN):c.395G>T (p.Gly132Val) rs121909241
NM_000314.8(PTEN):c.397del (p.Gly132_Val133insTer)
NM_000314.8(PTEN):c.39_40del (p.Arg14fs) rs587776671
NM_000314.8(PTEN):c.3_27del (p.Met1fs) rs2132145338
NM_000314.8(PTEN):c.400del (p.Val133_Met134insTer)
NM_000314.8(PTEN):c.401T>C (p.Met134Thr) rs1085308046
NM_000314.8(PTEN):c.403A>G (p.Ile135Val) rs587782360
NM_000314.8(PTEN):c.404T>A (p.Ile135Lys) rs370795352
NM_000314.8(PTEN):c.405_406del (p.Ile135fs)
NM_000314.8(PTEN):c.405dup (p.Cys136fs) rs398123323
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) rs786201044
NM_000314.8(PTEN):c.407G>A (p.Cys136Tyr) rs786204859
NM_000314.8(PTEN):c.408T>G (p.Cys136Trp) rs869312776
NM_000314.8(PTEN):c.40A>G (p.Arg14Gly) rs1085308047
NM_000314.8(PTEN):c.40del (p.Arg14fs)
NM_000314.8(PTEN):c.40dup (p.Arg14fs) rs587776671
NM_000314.8(PTEN):c.414T>G (p.Tyr138Ter) rs1554898161
NM_000314.8(PTEN):c.416_419del (p.Leu139fs)
NM_000314.8(PTEN):c.416del (p.Leu139fs) rs1554898163
NM_000314.8(PTEN):c.419T>A (p.Leu140Ter)
NM_000314.8(PTEN):c.421_422del (p.His141fs)
NM_000314.8(PTEN):c.422A>T (p.His141Leu)
NM_000314.8(PTEN):c.423del (p.Arg142fs) rs1859979785
NM_000314.8(PTEN):c.424C>T (p.Arg142Trp) rs746152219
NM_000314.8(PTEN):c.424del (p.Arg142fs) rs869312779
NM_000314.8(PTEN):c.430A>T (p.Lys144Ter) rs1057520622
NM_000314.8(PTEN):c.436_437del (p.Leu146fs)
NM_000314.8(PTEN):c.43A>T (p.Arg15Ter) rs2132145750
NM_000314.8(PTEN):c.442dup (p.Ala148fs)
NM_000314.8(PTEN):c.444dup (p.Gln149fs)
NM_000314.8(PTEN):c.445C>T (p.Gln149Ter) rs1060500122
NM_000314.8(PTEN):c.448G>T (p.Glu150Ter) rs786204934
NM_000314.8(PTEN):c.44_45delinsT (p.Arg15fs)
NM_000314.8(PTEN):c.44_45dup (p.Tyr16fs) rs1057524874
NM_000314.8(PTEN):c.451_484del (p.Ala151fs)
NM_000314.8(PTEN):c.454_469del (p.Leu152fs)
NM_000314.8(PTEN):c.457G>C (p.Asp153His) rs9651492
NM_000314.8(PTEN):c.458dup (p.Asp153fs)
NM_000314.8(PTEN):c.461_492+7del
NM_000314.8(PTEN):c.463T>C (p.Tyr155His) rs398123325
NM_000314.8(PTEN):c.464A>C (p.Tyr155Ser) rs1060500126
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.8(PTEN):c.469G>T (p.Glu157Ter) rs121909220
NM_000314.8(PTEN):c.469dup (p.Glu157fs) rs1554898210
NM_000314.8(PTEN):c.46dup (p.Tyr16fs) rs786204883
NM_000314.8(PTEN):c.471del (p.Glu157_Val158insTer)
NM_000314.8(PTEN):c.472_473del (p.Val158fs)
NM_000314.8(PTEN):c.475A>G (p.Arg159Gly) rs786202688
NM_000314.8(PTEN):c.47dup (p.Tyr16Ter) rs876661009
NM_000314.8(PTEN):c.483_492del (p.Asp162fs)
NM_000314.8(PTEN):c.486C>G (p.Asp162Glu) rs869312777
NM_000314.8(PTEN):c.486_487del (p.Asp162fs) rs1554898231
NM_000314.8(PTEN):c.487A>T (p.Lys163Ter) rs1554898235
NM_000314.8(PTEN):c.488A>G (p.Lys163Arg) rs786202753
NM_000314.8(PTEN):c.48T>A (p.Tyr16Ter) rs587782187
NM_000314.8(PTEN):c.48T>G (p.Tyr16Ter) rs587782187
NM_000314.8(PTEN):c.490A>T (p.Lys164Ter)
NM_000314.8(PTEN):c.490_491del (p.Lys164fs) rs786204900
NM_000314.8(PTEN):c.490_491dup (p.Gly165fs)
NM_000314.8(PTEN):c.491del (p.Lys164fs) rs786204900
NM_000314.8(PTEN):c.491dup (p.Val166fs)
NM_000314.8(PTEN):c.492+1G>A rs1554898242
NM_000314.8(PTEN):c.492+1G>T rs1554898242
NM_000314.8(PTEN):c.492+2T>G rs1554898244
NM_000314.8(PTEN):c.492+2del rs1060500124
NM_000314.8(PTEN):c.492_492+1delinsA
NM_000314.8(PTEN):c.493-12dup rs756623620
NM_000314.8(PTEN):c.493-1G>C rs786204862
NM_000314.8(PTEN):c.493-1G>T rs786204862
NM_000314.8(PTEN):c.493-2A>C rs587781784
NM_000314.8(PTEN):c.493-2A>G rs587781784
NM_000314.8(PTEN):c.493-2_493-1delinsCC rs2132268858
NM_000314.8(PTEN):c.493-5_528del
NM_000314.8(PTEN):c.493G>A (p.Gly165Arg) rs587782603
NM_000314.8(PTEN):c.493G>C (p.Gly165Arg) rs587782603
NM_000314.8(PTEN):c.493G>T (p.Gly165Ter) rs587782603
NM_000314.8(PTEN):c.494G>A (p.Gly165Glu) rs786204863
NM_000314.8(PTEN):c.499A>G (p.Thr167Ala) rs1210737543
NM_000314.8(PTEN):c.499del (p.Thr167fs)
NM_000314.8(PTEN):c.49C>T (p.Gln17Ter) rs786204910
NM_000314.8(PTEN):c.503_539del (p.Ile168fs)
NM_000314.8(PTEN):c.504_522del (p.Ile168fs)
NM_000314.8(PTEN):c.507del (p.Ser170fs) rs587776673
NM_000314.8(PTEN):c.508A>C (p.Ser170Arg) rs1554900534
NM_000314.8(PTEN):c.509G>A (p.Ser170Asn) rs876660507
NM_000314.8(PTEN):c.50_51del (p.Gln17fs) rs587781912
NM_000314.8(PTEN):c.50_79+23del
NM_000314.8(PTEN):c.510T>A (p.Ser170Arg) rs121909221
NM_000314.8(PTEN):c.510T>G (p.Ser170Arg) rs121909221
NM_000314.8(PTEN):c.510_513del (p.Ser170fs)
NM_000314.8(PTEN):c.511C>T (p.Gln171Ter) rs786204864
NM_000314.8(PTEN):c.512A>G (p.Gln171Arg) rs786204865
NM_000314.8(PTEN):c.517_523del (p.Arg173fs)
NM_000314.8(PTEN):c.518_519dup (p.Tyr174fs)
NM_000314.8(PTEN):c.51dup (p.Glu18fs)
NM_000314.8(PTEN):c.528_529dup (p.Tyr177fs)
NM_000314.8(PTEN):c.529T>A (p.Tyr177Asn) rs1860418425
NM_000314.8(PTEN):c.529T>G (p.Tyr177Asp) rs1860418425
NM_000314.8(PTEN):c.529dup (p.Tyr177fs)
NM_000314.8(PTEN):c.534_535delinsAT (p.Tyr178_Ser179delinsTer) rs397515374
NM_000314.8(PTEN):c.537_538del (p.Ser179fs)
NM_000314.8(PTEN):c.540C>A (p.Tyr180Ter)
NM_000314.8(PTEN):c.540C>G (p.Tyr180Ter) rs786202733
NM_000314.8(PTEN):c.542T>C (p.Leu181Pro) rs1589659492
NM_000314.8(PTEN):c.543_547delinsAT (p.Leu182_Lys183delinsTer)
NM_000314.8(PTEN):c.545T>C (p.Leu182Ser) rs794729664
NM_000314.8(PTEN):c.545_564del (p.Leu181_Leu182insTer)
NM_000314.8(PTEN):c.546_547insT (p.Lys183Ter)
NM_000314.8(PTEN):c.548dup (p.Asn184fs) rs1554900593
NM_000314.8(PTEN):c.551_560del (p.Asn184fs)
NM_000314.8(PTEN):c.55_70del (p.Asp19fs)
NM_000314.8(PTEN):c.55dup (p.Asp19fs)
NM_000314.8(PTEN):c.565A>T (p.Arg189Ter) rs1554900615
NM_000314.8(PTEN):c.570dup (p.Val191fs)
NM_000314.8(PTEN):c.571del (p.Val191fs)
NM_000314.8(PTEN):c.581del (p.Leu194fs)
NM_000314.8(PTEN):c.583_586del (p.Phe195fs)
NM_000314.8(PTEN):c.58_61del (p.Gly20fs)
NM_000314.8(PTEN):c.593T>C (p.Met198Thr) rs1554900635
NM_000314.8(PTEN):c.599T>C (p.Phe200Ser) rs786204867
NM_000314.8(PTEN):c.599_600del (p.Met199_Phe200insTer)
NM_000314.8(PTEN):c.606_610dup (p.Pro204fs)
NM_000314.8(PTEN):c.607del (p.Ile203fs)
NM_000314.8(PTEN):c.607dup (p.Ile203fs)
NM_000314.8(PTEN):c.60dup (p.Phe21fs) rs2132145926
NM_000314.8(PTEN):c.611del (p.Pro204fs)
NM_000314.8(PTEN):c.614del (p.Met205fs)
NM_000314.8(PTEN):c.617del (p.Phe206fs)
NM_000314.8(PTEN):c.621_622insACTG (p.Gly208fs)
NM_000314.8(PTEN):c.625G>T (p.Gly209Ter) rs765433422
NM_000314.8(PTEN):c.629del (p.Thr210fs) rs1060500114
NM_000314.8(PTEN):c.632dup (p.Cys211fs) rs1114167663
NM_000314.8(PTEN):c.633C>A (p.Cys211Ter) rs121909232
NM_000314.8(PTEN):c.634+1G>C rs1114167622
NM_000314.8(PTEN):c.634+2T>C rs727504114
NM_000314.8(PTEN):c.634+3_634+7delinsTCTCATCCTTGAATTT
NM_000314.8(PTEN):c.634+4A>T rs1554900675
NM_000314.8(PTEN):c.634+5G>A rs138336847
NM_000314.8(PTEN):c.634+5G>C rs138336847
NM_000314.8(PTEN):c.635-1G>A rs876661024
NM_000314.8(PTEN):c.635-1G>C rs876661024
NM_000314.8(PTEN):c.635-1G>T rs876661024
NM_000314.8(PTEN):c.635-2A>G rs1564566706
NM_000314.8(PTEN):c.635-32_643del
NM_000314.8(PTEN):c.635-33_653del
NM_000314.8(PTEN):c.638del (p.Pro213fs)
NM_000314.8(PTEN):c.639_640delinsCT (p.Gln214Ter)
NM_000314.8(PTEN):c.639_640dup (p.Gln214fs)
NM_000314.8(PTEN):c.640C>T (p.Gln214Ter) rs121909227
NM_000314.8(PTEN):c.644_647del (p.Phe215fs)
NM_000314.8(PTEN):c.647_648del (p.Val216fs)
NM_000314.8(PTEN):c.648_649insACCG (p.Val217fs)
NM_000314.8(PTEN):c.654C>A (p.Cys218Ter) rs1554825165
NM_000314.8(PTEN):c.655C>T (p.Gln219Ter)
NM_000314.8(PTEN):c.661A>T (p.Lys221Ter)
NM_000314.8(PTEN):c.661_683del (p.Lys221fs)
NM_000314.8(PTEN):c.664_691dup (p.Pro231fs)
NM_000314.8(PTEN):c.664del (p.Lys221_Val222insTer)
NM_000314.8(PTEN):c.667A>T (p.Lys223Ter) rs1085308049
NM_000314.8(PTEN):c.66C>G (p.Asp22Glu) rs786201335
NM_000314.8(PTEN):c.66C>T (p.Asp22=) rs786201335
NM_000314.8(PTEN):c.672del (p.Tyr225fs) rs1564566774
NM_000314.8(PTEN):c.675T>A (p.Tyr225Ter)
NM_000314.8(PTEN):c.675T>G (p.Tyr225Ter) rs1057520900
NM_000314.8(PTEN):c.676del (p.Ser226fs)
NM_000314.8(PTEN):c.685T>A (p.Ser229Thr) rs587781998
NM_000314.8(PTEN):c.686C>A (p.Ser229Ter)
NM_000314.8(PTEN):c.688G>T (p.Gly230Ter)
NM_000314.8(PTEN):c.694dup (p.Thr232fs)
NM_000314.8(PTEN):c.696del (p.Arg233fs) rs587776669
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.8(PTEN):c.698dup (p.Arg234fs)
NM_000314.8(PTEN):c.69_79delAGACTTGACCT (p.Asp24fs)
NM_000314.8(PTEN):c.700C>T (p.Arg234Trp) rs786201730
NM_000314.8(PTEN):c.700_709dup (p.Lys237fs)
NM_000314.8(PTEN):c.703del (p.Glu235fs)
NM_000314.8(PTEN):c.705del (p.Asp236fs) rs1554825202
NM_000314.8(PTEN):c.70G>C (p.Asp24His) rs786201995
NM_000314.8(PTEN):c.70G>T (p.Asp24Tyr) rs786201995
NM_000314.8(PTEN):c.713del (p.Phe238fs)
NM_000314.8(PTEN):c.71A>G (p.Asp24Gly) rs797044910
NM_000314.8(PTEN):c.720C>A (p.Tyr240Ter)
NM_000314.8(PTEN):c.720_721insCA (p.Phe241fs) rs1554825206
NM_000314.8(PTEN):c.721_786del (p.Phe241_Asn262del)
NM_000314.8(PTEN):c.723del (p.Phe241fs) rs1060500115
NM_000314.8(PTEN):c.723dup (p.Glu242Ter) rs1060500115
NM_000314.8(PTEN):c.724G>T (p.Glu242Ter)
NM_000314.8(PTEN):c.728del (p.Phe243fs)
NM_000314.8(PTEN):c.731del (p.Pro244fs)
NM_000314.8(PTEN):c.732_733insGG (p.Gln245fs)
NM_000314.8(PTEN):c.732_781del (p.Gln245fs)
NM_000314.8(PTEN):c.733C>T (p.Gln245Ter) rs786202918
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.8(PTEN):c.737_738insT (p.Leu247fs)
NM_000314.8(PTEN):c.737del (p.Pro246fs)
NM_000314.8(PTEN):c.739_740insAGT (p.Leu247Ter) rs1589663442
NM_000314.8(PTEN):c.739_740insAT (p.Leu247fs) rs786204902
NM_000314.8(PTEN):c.739_742delinsGG (p.Leu247fs)
NM_000314.8(PTEN):c.73_74del (p.Leu25fs)
NM_000314.8(PTEN):c.741dup (p.Pro248fs) rs587782341
NM_000314.8(PTEN):c.743del (p.Pro248fs)
NM_000314.8(PTEN):c.750_751del (p.Cys250fs) rs780264945
NM_000314.8(PTEN):c.750_751insC (p.Gly251fs) rs1860548195
NM_000314.8(PTEN):c.752G>A (p.Gly251Asp) rs1554825226
NM_000314.8(PTEN):c.755A>G (p.Asp252Gly) rs121909239
NM_000314.8(PTEN):c.755A>T (p.Asp252Val) rs121909239
NM_000314.8(PTEN):c.759del (p.Lys254_Val255insTer)
NM_000314.8(PTEN):c.75_76del (p.Leu25fs)
NM_000314.8(PTEN):c.766G>T (p.Glu256Ter) rs121909228
NM_000314.8(PTEN):c.767_768del (p.Glu256fs) rs869312780
NM_000314.8(PTEN):c.781C>G (p.Gln261Glu) rs730882131
NM_000314.8(PTEN):c.784_788del (p.Asn262fs)
NM_000314.8(PTEN):c.789del (p.Met264fs)
NM_000314.8(PTEN):c.79+23_79+25del rs1221062997
NM_000314.8(PTEN):c.794T>C (p.Leu265Pro) rs1335033900
NM_000314.8(PTEN):c.799_800del (p.Lys267fs)
NM_000314.8(PTEN):c.799_800insTT (p.Lys267fs) rs1860552294
NM_000314.8(PTEN):c.80-1_80del rs1554893747
NM_000314.8(PTEN):c.80-3C>G rs1554893746
NM_000314.8(PTEN):c.800del (p.Lys267fs) rs121913289
NM_000314.8(PTEN):c.800dup (p.Asp268fs)
NM_000314.8(PTEN):c.801+1G>A rs786204873
NM_000314.8(PTEN):c.801+1del rs1060500110
NM_000314.8(PTEN):c.802-1G>A rs1257124719
NM_000314.8(PTEN):c.802-1G>C
NM_000314.8(PTEN):c.802-1G>T rs1257124719
NM_000314.8(PTEN):c.802-2A>G rs587782455
NM_000314.8(PTEN):c.802-2_816del
NM_000314.8(PTEN):c.802-37_815del
NM_000314.8(PTEN):c.802-3T>A rs587780712
NM_000314.8(PTEN):c.802-3dup rs34003473
NM_000314.8(PTEN):c.802-4_802-3dup rs34003473
NM_000314.8(PTEN):c.802-51_802-14del rs557364463
NM_000314.8(PTEN):c.802-54_883del
NM_000314.8(PTEN):c.802-5T>G
NM_000314.8(PTEN):c.802-6T>G rs1057522284
NM_000314.8(PTEN):c.802-6_802-2delinsG
NM_000314.8(PTEN):c.802-8_839del
NM_000314.8(PTEN):c.806_831del (p.Lys269fs)
NM_000314.8(PTEN):c.808del (p.Met270fs)
NM_000314.8(PTEN):c.80A>C (p.Tyr27Ser) rs886041877
NM_000314.8(PTEN):c.80A>G (p.Tyr27Cys) rs886041877
NM_000314.8(PTEN):c.81T>A (p.Tyr27Ter)
NM_000314.8(PTEN):c.820del (p.Trp274fs)
NM_000314.8(PTEN):c.820dup (p.Trp274fs)
NM_000314.8(PTEN):c.822G>A (p.Trp274Ter) rs587782607
NM_000314.8(PTEN):c.827A>T (p.Asn276Ile) rs1860618095
NM_000314.8(PTEN):c.829dup (p.Thr277fs) rs1589665640
NM_000314.8(PTEN):c.830C>G (p.Thr277Arg) rs398123329
NM_000314.8(PTEN):c.830C>T (p.Thr277Ile) rs398123329
NM_000314.8(PTEN):c.833_834delinsAA (p.Phe278Ter)
NM_000314.8(PTEN):c.833del (p.Phe278fs)
NM_000314.8(PTEN):c.838A>G (p.Ile280Val) rs1474354667
NM_000314.8(PTEN):c.83_84insCTAT (p.Pro30fs)
NM_000314.8(PTEN):c.841_851del (p.Pro281fs)
NM_000314.8(PTEN):c.846_847del (p.Pro283fs)
NM_000314.8(PTEN):c.84_87del (p.Tyr29fs)
NM_000314.8(PTEN):c.850_860del (p.Glu284fs)
NM_000314.8(PTEN):c.853G>T (p.Glu285Ter)
NM_000314.8(PTEN):c.860C>G (p.Ser287Ter) rs863224909
NM_000314.8(PTEN):c.862G>A (p.Glu288Lys) rs1554825528
NM_000314.8(PTEN):c.865A>T (p.Lys289Ter) rs562015640
NM_000314.8(PTEN):c.865_866insCT (p.Lys289fs) rs1554825530
NM_000314.8(PTEN):c.867del (p.Lys289_Val290insTer)
NM_000314.8(PTEN):c.867dup (p.Val290fs)
NM_000314.8(PTEN):c.868_892del (p.Val290fs)
NM_000314.8(PTEN):c.871G>T (p.Glu291Ter)
NM_000314.8(PTEN):c.874_877dup (p.Gly293fs)
NM_000314.8(PTEN):c.875del (p.Asn292fs) rs786204905
NM_000314.8(PTEN):c.875dup (p.Asn292fs) rs786204905
NM_000314.8(PTEN):c.876_880del (p.Asn292fs)
NM_000314.8(PTEN):c.877G>T (p.Gly293Ter) rs878853944
NM_000314.8(PTEN):c.877_923dup (p.Arg308_Ala309insGluValTyrValIleLysLysSerIleAlaPheAlaValTer)
NM_000314.8(PTEN):c.880dup (p.Ser294fs)
NM_000314.8(PTEN):c.883_884del (p.Leu295fs)
NM_000314.8(PTEN):c.884dup (p.Cys296fs) rs587780006
NM_000314.8(PTEN):c.885_886del (p.Leu295_Cys296insTer) rs1564568350
NM_000314.8(PTEN):c.888T>A (p.Cys296Ter) rs1589665853
NM_000314.8(PTEN):c.894dup (p.Glu299fs)
NM_000314.8(PTEN):c.895G>T (p.Glu299Ter) rs1114167674
NM_000314.8(PTEN):c.898del (p.Ile300fs) rs2132282499
NM_000314.8(PTEN):c.904_910del (p.Ser302fs)
NM_000314.8(PTEN):c.910_934del (p.Cys304fs)
NM_000314.8(PTEN):c.914G>A (p.Ser305Asn) rs587780007
NM_000314.8(PTEN):c.916dup (p.Ile306fs) rs1860625934
NM_000314.8(PTEN):c.919G>T (p.Glu307Ter) rs746930141
NM_000314.8(PTEN):c.922C>T (p.Arg308Cys) rs1064794436
NM_000314.8(PTEN):c.922del (p.Arg308fs)
NM_000314.8(PTEN):c.924_928dup (p.Asp310fs)
NM_000314.8(PTEN):c.930delinsAA (p.Asp310fs)
NM_000314.8(PTEN):c.932del (p.Asn311fs)
NM_000314.8(PTEN):c.940del (p.Glu314fs)
NM_000314.8(PTEN):c.945T>A (p.Tyr315Ter) rs876661058
NM_000314.8(PTEN):c.947T>C (p.Leu316Pro) rs1064793345
NM_000314.8(PTEN):c.949del (p.Val317fs) rs876658837
NM_000314.8(PTEN):c.951dup (p.Leu318fs)
NM_000314.8(PTEN):c.955_958del (p.Leu318_Thr319insTer) rs146650273
NM_000314.8(PTEN):c.955dup (p.Thr319fs) rs786204892
NM_000314.8(PTEN):c.956_959del (p.Thr319fs) rs398123330
NM_000314.8(PTEN):c.956_960del (p.Thr319fs) rs1589666094
NM_000314.8(PTEN):c.958_959insG (p.Leu320fs)
NM_000314.8(PTEN):c.959T>A (p.Leu320Ter) rs1114167667
NM_000314.8(PTEN):c.959T>C (p.Leu320Ser) rs1114167667
NM_000314.8(PTEN):c.959T>G (p.Leu320Ter) rs1114167667
NM_000314.8(PTEN):c.959del (p.Thr319_Leu320insTer) rs1114167682
NM_000314.8(PTEN):c.959dup (p.Leu320fs)
NM_000314.8(PTEN):c.966_967delinsG (p.Asn323fs)
NM_000314.8(PTEN):c.966_996del (p.Asn323fs) rs2132283188
NM_000314.8(PTEN):c.967_968dup (p.Asn323fs) rs121913291
NM_000314.8(PTEN):c.968del (p.Asn323fs) rs121913291
NM_000314.8(PTEN):c.968dup (p.Asn323fs) rs121913291
NM_000314.8(PTEN):c.969del (p.Asn323fs)
NM_000314.8(PTEN):c.972_977del (p.Leu325_Asp326del) rs1860630372
NM_000314.8(PTEN):c.975_982del (p.Asp326fs)
NM_000314.8(PTEN):c.975_988delinsCGCTT (p.Asp326_Lys330delinsAlaTer) rs1114167640
NM_000314.8(PTEN):c.97_98del (p.Ile33fs) rs876658171
NM_000314.8(PTEN):c.986del (p.Asn329fs)
NM_000314.8(PTEN):c.987_990del (p.Asn329fs) rs587782304
NM_000314.8(PTEN):c.987_990dup (p.Asp331Ter)
NM_000314.8(PTEN):c.988_1014delinsTATCCATATAGATAATTTAACTGA (p.Lys330_Ser338delinsTyrProTyrArgTer)
NM_000314.8(PTEN):c.990del (p.Asp331fs)
NM_000314.8(PTEN):c.999dup (p.Asn334fs)
NM_001126049.2(KLLN):c.-736G>C rs1554889801
NM_001126049.2(KLLN):c.-812G>A rs587779981
NM_001126049.2(KLLN):c.-812G>T rs587779981
NM_001126049.2(KLLN):c.-828C>T rs786203674
NM_001126049.2(KLLN):c.-887C>T rs786204920
NM_001304718.2(PTEN):c.-541-5533del rs2132232095
NM_003000.3(SDHB):c.540+11C>T rs1160578491
NM_003000.3(SDHB):c.559A>G (p.Ile187Val) rs1557739989
NM_003000.3(SDHB):c.591del (p.Ser198fs) rs1060503757
NM_003000.3(SDHB):c.721T>G (p.Tyr241Asp) rs1060503758
NM_005228.5(EGFR):c.977G>T (p.Cys326Phe) rs886037891
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.1743C>T (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.2597T>G (p.Leu866Trp) rs1576947658
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.3140A>T (p.His1047Leu) rs121913279
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
PTEN, DEL

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