ClinVar Miner

List of variants studied for Cowden syndrome 6

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ClinVar version:
Total variants: 476
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HGVS dbSNP gnomAD frequency
NM_001382430.1(AKT1):c.175+100A>T rs2494737 0.39797
NM_001382430.1(AKT1):c.726G>A (p.Glu242=) rs1130233 0.22241
NM_001382430.1(AKT1):c.604C>T (p.Leu202=) rs2230506 0.03899
NM_001382430.1(AKT1):c.558C>T (p.Ile186=) rs34670300 0.02248
NM_001382430.1(AKT1):c.567+14G>A rs3730345 0.01364
NM_001382430.1(AKT1):c.1251C>T (p.Tyr417=) rs139297659 0.01008
NM_001382430.1(AKT1):c.1179C>T (p.Gly393=) rs11555434 0.00876
NM_001382430.1(AKT1):c.1389C>T (p.Ser463=) rs144112075 0.00237
NM_001382430.1(AKT1):c.1020C>T (p.Tyr340=) rs144088506 0.00224
NM_001382430.1(AKT1):c.957+18G>A rs35314414 0.00155
NM_001382430.1(AKT1):c.288-14C>T rs138386095 0.00083
NM_001382430.1(AKT1):c.47-12G>A rs17846816 0.00067
NM_001382430.1(AKT1):c.1032C>T (p.Cys344=) rs56289559 0.00063
NM_001382430.1(AKT1):c.432C>T (p.Arg144=) rs17846825 0.00060
NM_001382430.1(AKT1):c.138C>A (p.Asp46Glu) rs146875699 0.00045
NM_001382430.1(AKT1):c.1364-11del rs548780765 0.00044
NM_001382430.1(AKT1):c.1380T>C (p.Cys460=) rs139394285 0.00043
NM_001382430.1(AKT1):c.567+12G>A rs201432590 0.00031
NM_001382430.1(AKT1):c.1363+12C>T rs61761248 0.00029
NM_001382430.1(AKT1):c.126G>A (p.Pro42=) rs375645311 0.00025
NM_001382430.1(AKT1):c.1227C>T (p.Ala409=) rs141303557 0.00019
NM_001382430.1(AKT1):c.783G>A (p.Leu261=) rs143933508 0.00017
NM_001382430.1(AKT1):c.288-3C>T rs61761189 0.00016
NM_001382430.1(AKT1):c.406G>A (p.Val136Met) rs778376616 0.00015
NM_001382430.1(AKT1):c.855C>T (p.Asp285=) rs149484260 0.00013
NM_001382430.1(AKT1):c.1416C>T (p.Phe472=) rs184263655 0.00011
NM_001382430.1(AKT1):c.7G>A (p.Asp3Asn) rs140532443 0.00011
NM_001382430.1(AKT1):c.1260+12C>T rs765383641 0.00010
NM_001382430.1(AKT1):c.1107G>A (p.Pro369=) rs150399268 0.00009
NM_001382430.1(AKT1):c.1261-18G>A rs376284145 0.00009
NM_001382430.1(AKT1):c.1329G>A (p.Thr443=) rs376893212 0.00009
NM_001382430.1(AKT1):c.47-13C>T rs529203460 0.00009
NM_001382430.1(AKT1):c.906C>T (p.Asp302=) rs746001369 0.00008
NM_001382430.1(AKT1):c.46+19G>A rs769199033 0.00007
NM_001382430.1(AKT1):c.958-7C>T rs369048965 0.00007
NM_001382430.1(AKT1):c.1233C>T (p.Ile411=) rs375901448 0.00006
NM_001382430.1(AKT1):c.1394G>A (p.Arg465His) rs113547523 0.00006
NM_001382430.1(AKT1):c.435+17C>T rs372112260 0.00006
NM_001382430.1(AKT1):c.440T>C (p.Met147Thr) rs758456890 0.00006
NM_001382430.1(AKT1):c.798G>A (p.Ser266=) rs367635775 0.00006
NM_001382430.1(AKT1):c.828+10C>T rs370490407 0.00006
NM_001382430.1(AKT1):c.879C>T (p.Phe293=) rs139200289 0.00006
NM_001382430.1(AKT1):c.958-6G>A rs199770031 0.00006
NM_001382430.1(AKT1):c.1228G>A (p.Gly410Ser) rs146483593 0.00005
NM_001382430.1(AKT1):c.142C>T (p.Arg48Cys) rs374093099 0.00005
NM_001382430.1(AKT1):c.174G>A (p.Ala58=) rs560243859 0.00005
NM_001382430.1(AKT1):c.195G>A (p.Thr65=) rs768384015 0.00005
NM_001382430.1(AKT1):c.570C>T (p.Asp190=) rs780207480 0.00005
NM_001382430.1(AKT1):c.9C>T (p.Asp3=) rs56217512 0.00005
NM_001382430.1(AKT1):c.10G>A (p.Val4Met) rs754031503 0.00004
NM_001382430.1(AKT1):c.1122C>T (p.Pro374=) rs374865919 0.00004
NM_001382430.1(AKT1):c.1194C>T (p.Asp398=) rs151254374 0.00004
NM_001382430.1(AKT1):c.1390G>A (p.Glu464Lys) rs745803788 0.00004
NM_001382430.1(AKT1):c.1431C>T (p.Ser477=) rs200213561 0.00004
NM_001382430.1(AKT1):c.176-4G>A rs776399604 0.00004
NM_001382430.1(AKT1):c.237G>A (p.Gln79=) rs747020429 0.00004
NM_001382430.1(AKT1):c.287+16C>T rs751067863 0.00004
NM_001382430.1(AKT1):c.287+5G>A rs373853807 0.00004
NM_001382430.1(AKT1):c.315T>C (p.Thr105=) rs767715614 0.00004
NM_001382430.1(AKT1):c.324C>T (p.Asp108=) rs940028787 0.00004
NM_001382430.1(AKT1):c.444C>T (p.Asn148=) rs752894366 0.00004
NM_001382430.1(AKT1):c.483C>T (p.Phe161=) rs139904675 0.00004
NM_001382430.1(AKT1):c.528C>T (p.Tyr176=) rs1422460834 0.00004
NM_001382430.1(AKT1):c.660C>T (p.His220=) rs141168205 0.00004
NM_001382430.1(AKT1):c.702+17C>T rs372953510 0.00004
NM_001382430.1(AKT1):c.828+4C>T rs3730330 0.00004
NM_001382430.1(AKT1):c.951C>A (p.Ala317=) rs17846831 0.00004
NM_001382430.1(AKT1):c.1053C>T (p.Asn351=) rs376942361 0.00003
NM_001382430.1(AKT1):c.1112C>A (p.Thr371Lys) rs781388586 0.00003
NM_001382430.1(AKT1):c.1198A>G (p.Lys400Glu) rs773607483 0.00003
NM_001382430.1(AKT1):c.120G>A (p.Glu40=) rs370287382 0.00003
NM_001382430.1(AKT1):c.1260+16G>A rs768750733 0.00003
NM_001382430.1(AKT1):c.1260+4C>T rs765999603 0.00003
NM_001382430.1(AKT1):c.1338G>T (p.Met446Ile) rs751976958 0.00003
NM_001382430.1(AKT1):c.1364-10A>G rs755530413 0.00003
NM_001382430.1(AKT1):c.1373T>C (p.Met458Thr) rs587778018 0.00003
NM_001382430.1(AKT1):c.361C>T (p.Arg121Trp) rs369198922 0.00003
NM_001382430.1(AKT1):c.362G>A (p.Arg121Gln) rs1457484217 0.00003
NM_001382430.1(AKT1):c.47-9C>T rs776342530 0.00003
NM_001382430.1(AKT1):c.567+8C>T rs752874396 0.00003
NM_001382430.1(AKT1):c.633+15A>G rs770757599 0.00003
NM_001382430.1(AKT1):c.751C>T (p.Arg251Cys) rs780571834 0.00003
NM_001382430.1(AKT1):c.1243C>T (p.His415Tyr) rs777696700 0.00002
NM_001382430.1(AKT1):c.1260+15C>T rs774786647 0.00002
NM_001382430.1(AKT1):c.1260+5G>A rs760365810 0.00002
NM_001382430.1(AKT1):c.1436C>T (p.Thr479Met) rs201291259 0.00002
NM_001382430.1(AKT1):c.1437G>A (p.Thr479=) rs555187157 0.00002
NM_001382430.1(AKT1):c.199C>T (p.Arg67Trp) rs762559261 0.00002
NM_001382430.1(AKT1):c.278C>A (p.Pro93His) rs1296782302 0.00002
NM_001382430.1(AKT1):c.287+17G>A rs763570822 0.00002
NM_001382430.1(AKT1):c.303C>T (p.Thr101=) rs750890213 0.00002
NM_001382430.1(AKT1):c.374C>T (p.Pro125Leu) rs759031755 0.00002
NM_001382430.1(AKT1):c.436-3T>C rs368553273 0.00002
NM_001382430.1(AKT1):c.453G>A (p.Glu151=) rs765537155 0.00002
NM_001382430.1(AKT1):c.567+9G>A rs200724383 0.00002
NM_001382430.1(AKT1):c.606G>A (p.Leu202=) rs759079296 0.00002
NM_001382430.1(AKT1):c.634-13C>T rs754944632 0.00002
NM_001382430.1(AKT1):c.664C>T (p.Arg222Cys) rs551254461 0.00002
NM_001382430.1(AKT1):c.687C>T (p.Tyr229=) rs769696222 0.00002
NM_001382430.1(AKT1):c.696G>A (p.Gly232=) rs201006619 0.00002
NM_001382430.1(AKT1):c.6C>T (p.Ser2=) rs371534192 0.00002
NM_001382430.1(AKT1):c.702+18G>A rs750119740 0.00002
NM_001382430.1(AKT1):c.703-5C>T rs377077146 0.00002
NM_001382430.1(AKT1):c.738C>T (p.Ser246=) rs368667384 0.00002
NM_001382430.1(AKT1):c.807C>T (p.Asn269=) rs201044857 0.00002
NM_001382430.1(AKT1):c.1011G>A (p.Val337=) rs1043166019 0.00001
NM_001382430.1(AKT1):c.101C>A (p.Thr34Asn) rs750653493 0.00001
NM_001382430.1(AKT1):c.1036C>T (p.Arg346Cys) rs1168658858 0.00001
NM_001382430.1(AKT1):c.107T>C (p.Ile36Thr) rs758157217 0.00001
NM_001382430.1(AKT1):c.1080C>T (p.Leu360=) rs1566816352 0.00001
NM_001382430.1(AKT1):c.1092G>A (p.Glu364=) rs773975370 0.00001
NM_001382430.1(AKT1):c.1099C>T (p.Arg367Cys) rs762705090 0.00001
NM_001382430.1(AKT1):c.1104C>T (p.Phe368=) rs1595241867 0.00001
NM_001382430.1(AKT1):c.1109G>A (p.Arg370His) rs746272761 0.00001
NM_001382430.1(AKT1):c.1134C>T (p.Ser378=) rs369527283 0.00001
NM_001382430.1(AKT1):c.1172+10G>A rs200702576 0.00001
NM_001382430.1(AKT1):c.1172+16C>G rs759249014 0.00001
NM_001382430.1(AKT1):c.1172+4A>C rs1319947920 0.00001
NM_001382430.1(AKT1):c.1172+5G>A rs751392710 0.00001
NM_001382430.1(AKT1):c.1172+9C>T rs529348439 0.00001
NM_001382430.1(AKT1):c.1173-6C>G rs1036107517 0.00001
NM_001382430.1(AKT1):c.1189G>A (p.Glu397Lys) rs531850885 0.00001
NM_001382430.1(AKT1):c.1206C>T (p.Ile402=) rs748654766 0.00001
NM_001382430.1(AKT1):c.122G>A (p.Arg41Gln) rs766000895 0.00001
NM_001382430.1(AKT1):c.1245C>T (p.His415=) rs758476416 0.00001
NM_001382430.1(AKT1):c.1260+18A>G rs762981122 0.00001
NM_001382430.1(AKT1):c.1260+7C>T rs750823961 0.00001
NM_001382430.1(AKT1):c.1261-10A>C rs1278310321 0.00001
NM_001382430.1(AKT1):c.1261-19C>T rs1443985201 0.00001
NM_001382430.1(AKT1):c.1261-20C>T rs771248358 0.00001
NM_001382430.1(AKT1):c.1289C>T (p.Thr430Met) rs749186394 0.00001
NM_001382430.1(AKT1):c.1290G>A (p.Thr430=) rs779447501 0.00001
NM_001382430.1(AKT1):c.1293G>A (p.Ser431=) rs750104452 0.00001
NM_001382430.1(AKT1):c.132T>C (p.Asp44=) rs1347356104 0.00001
NM_001382430.1(AKT1):c.1361A>G (p.Gln454Arg) rs759702315 0.00001
NM_001382430.1(AKT1):c.1363+9C>T rs926451222 0.00001
NM_001382430.1(AKT1):c.1372A>G (p.Met458Val) rs1360782672 0.00001
NM_001382430.1(AKT1):c.1432G>A (p.Gly478Ser) rs1205616929 0.00001
NM_001382430.1(AKT1):c.143G>A (p.Arg48His) rs774836044 0.00001
NM_001382430.1(AKT1):c.176-8G>A rs1060504818 0.00001
NM_001382430.1(AKT1):c.201G>T (p.Arg67=) rs1452532489 0.00001
NM_001382430.1(AKT1):c.206G>A (p.Arg69Gln) rs183989506 0.00001
NM_001382430.1(AKT1):c.227G>A (p.Arg76His) rs771065764 0.00001
NM_001382430.1(AKT1):c.252C>T (p.Ile84=) rs1027097620 0.00001
NM_001382430.1(AKT1):c.267T>C (p.His89=) rs142646145 0.00001
NM_001382430.1(AKT1):c.287+4C>T rs745831501 0.00001
NM_001382430.1(AKT1):c.294G>A (p.Glu98=) rs766755485 0.00001
NM_001382430.1(AKT1):c.325G>A (p.Gly109Ser) rs768800433 0.00001
NM_001382430.1(AKT1):c.343G>A (p.Glu115Lys) rs1338783398 0.00001
NM_001382430.1(AKT1):c.365C>T (p.Ser122Leu) rs746934495 0.00001
NM_001382430.1(AKT1):c.387A>G (p.Ser129=) rs747700076 0.00001
NM_001382430.1(AKT1):c.394G>A (p.Glu132Lys) rs1319030326 0.00001
NM_001382430.1(AKT1):c.430C>T (p.Arg144Cys) rs375990114 0.00001
NM_001382430.1(AKT1):c.431G>A (p.Arg144His) rs1060503071 0.00001
NM_001382430.1(AKT1):c.436-18C>A rs746274769 0.00001
NM_001382430.1(AKT1):c.438C>T (p.Thr146=) rs145780379 0.00001
NM_001382430.1(AKT1):c.457C>T (p.Leu153=) rs149803079 0.00001
NM_001382430.1(AKT1):c.46+10C>T rs372014221 0.00001
NM_001382430.1(AKT1):c.47-5T>C rs746664907 0.00001
NM_001382430.1(AKT1):c.495C>T (p.Ile165=) rs1161567933 0.00001
NM_001382430.1(AKT1):c.511G>A (p.Ala171Thr) rs1016707349 0.00001
NM_001382430.1(AKT1):c.520C>T (p.Arg174Cys) rs983007851 0.00001
NM_001382430.1(AKT1):c.521G>A (p.Arg174His) rs1200003171 0.00001
NM_001382430.1(AKT1):c.525C>T (p.Tyr175=) rs774828129 0.00001
NM_001382430.1(AKT1):c.567+5G>T rs373741434 0.00001
NM_001382430.1(AKT1):c.568-14_568-11dup rs745536266 0.00001
NM_001382430.1(AKT1):c.591C>T (p.Thr197=) rs763782135 0.00001
NM_001382430.1(AKT1):c.633+9G>A rs1238078801 0.00001
NM_001382430.1(AKT1):c.665G>A (p.Arg222His) rs369698909 0.00001
NM_001382430.1(AKT1):c.684G>A (p.Glu228=) rs1276744835 0.00001
NM_001382430.1(AKT1):c.693C>T (p.Asn231=) rs767346459 0.00001
NM_001382430.1(AKT1):c.703-12C>T rs753076466 0.00001
NM_001382430.1(AKT1):c.703-4G>A rs776642823 0.00001
NM_001382430.1(AKT1):c.705G>T (p.Leu235=) rs769090254 0.00001
NM_001382430.1(AKT1):c.721C>T (p.Arg241Trp) rs768606668 0.00001
NM_001382430.1(AKT1):c.73C>T (p.Arg25Cys) rs397514644 0.00001
NM_001382430.1(AKT1):c.746G>A (p.Arg249Gln) rs745809388 0.00001
NM_001382430.1(AKT1):c.763G>A (p.Ala255Thr) rs375395037 0.00001
NM_001382430.1(AKT1):c.797C>T (p.Ser266Leu) rs549083521 0.00001
NM_001382430.1(AKT1):c.810G>A (p.Val270=) rs2230508 0.00001
NM_001382430.1(AKT1):c.876C>T (p.Asp292=) rs761942512 0.00001
NM_001382430.1(AKT1):c.907G>A (p.Gly303Ser) rs1360111387 0.00001
NM_001382430.1(AKT1):c.957+17C>T rs191423993 0.00001
NM_001382430.1(AKT1):c.957+7G>A rs771514399 0.00001
NM_001382430.1(AKT1):c.978C>T (p.Tyr326=) rs55874341 0.00001
NC_000014.8:g.(?_105236678)_(105258980_?)dup
NC_000014.8:g.(?_105258915)_(105268803_?)dup
NC_000014.9:g.(?_104792588)_(104792643_?)dup
NC_000014.9:g.104775025_104775026insATGCCACCCCGTCCTGTAAAGCAGGGCTGGGTGAG
NC_000014.9:g.104780217dup rs34409589
NM_001382430.1(AKT1):c.1005G>A (p.Leu335=) rs758651475
NM_001382430.1(AKT1):c.1008C>T (p.Gly336=) rs1489572550
NM_001382430.1(AKT1):c.1009G>A (p.Val337Met) rs1247419183
NM_001382430.1(AKT1):c.1020C>G (p.Tyr340Ter)
NM_001382430.1(AKT1):c.1037G>A (p.Arg346His) rs1219649544
NM_001382430.1(AKT1):c.1038C>T (p.Arg346=) rs1060504819
NM_001382430.1(AKT1):c.1039C>T (p.Leu347=)
NM_001382430.1(AKT1):c.1052A>G (p.Asn351Ser)
NM_001382430.1(AKT1):c.106A>G (p.Ile36Val) rs781339141
NM_001382430.1(AKT1):c.1083C>T (p.Ile361=) rs1402373492
NM_001382430.1(AKT1):c.1086C>T (p.Leu362=) rs2140901197
NM_001382430.1(AKT1):c.1088T>C (p.Met363Thr) rs1892478123
NM_001382430.1(AKT1):c.1097T>C (p.Ile366Thr) rs1892477463
NM_001382430.1(AKT1):c.1099C>A (p.Arg367Ser) rs762705090
NM_001382430.1(AKT1):c.1107G>C (p.Pro369=) rs150399268
NM_001382430.1(AKT1):c.1108C>A (p.Arg370Ser)
NM_001382430.1(AKT1):c.1108C>T (p.Arg370Cys) rs549370342
NM_001382430.1(AKT1):c.1112C>T (p.Thr371Met) rs781388586
NM_001382430.1(AKT1):c.1113G>A (p.Thr371=) rs747408700
NM_001382430.1(AKT1):c.1113G>C (p.Thr371=) rs747408700
NM_001382430.1(AKT1):c.1117G>A (p.Gly373Ser)
NM_001382430.1(AKT1):c.1119T>A (p.Gly373=) rs2140900738
NM_001382430.1(AKT1):c.1123G>A (p.Glu375Lys)
NM_001382430.1(AKT1):c.1130A>G (p.Lys377Arg) rs1480573852
NM_001382430.1(AKT1):c.1146G>A (p.Gly382=) rs755174756
NM_001382430.1(AKT1):c.1149G>A (p.Leu383=) rs767207905
NM_001382430.1(AKT1):c.1159G>A (p.Asp387Asn) rs1566816289
NM_001382430.1(AKT1):c.1161C>T (p.Asp387=) rs1309319250
NM_001382430.1(AKT1):c.1166A>C (p.Lys389Thr) rs1390801321
NM_001382430.1(AKT1):c.1172+7G>A rs763680129
NM_001382430.1(AKT1):c.1172+9C>A rs529348439
NM_001382430.1(AKT1):c.1173-18C>T
NM_001382430.1(AKT1):c.1173-8G>A
NM_001382430.1(AKT1):c.1173-8G>C
NM_001382430.1(AKT1):c.1173G>A (p.Arg391=) rs889505130
NM_001382430.1(AKT1):c.1176T>C (p.Leu392=) rs1049525123
NM_001382430.1(AKT1):c.117G>A (p.Lys39=) rs1595251382
NM_001382430.1(AKT1):c.1188C>T (p.Ser396=) rs911689817
NM_001382430.1(AKT1):c.1189G>C (p.Glu397Gln) rs531850885
NM_001382430.1(AKT1):c.1190A>C (p.Glu397Ala)
NM_001382430.1(AKT1):c.1191G>T (p.Glu397Asp) rs1334042967
NM_001382430.1(AKT1):c.1195G>A (p.Ala399Thr) rs188580689
NM_001382430.1(AKT1):c.1216C>T (p.Arg406Cys) rs749544983
NM_001382430.1(AKT1):c.1217G>A (p.Arg406His)
NM_001382430.1(AKT1):c.1234G>A (p.Val412Met) rs1444891733
NM_001382430.1(AKT1):c.1242G>C (p.Gln414His) rs1555383354
NM_001382430.1(AKT1):c.1245C>G (p.His415Gln) rs758476416
NM_001382430.1(AKT1):c.1248G>A (p.Val416=) rs1595241057
NM_001382430.1(AKT1):c.125C>T (p.Pro42Leu)
NM_001382430.1(AKT1):c.1260+19T>C
NM_001382430.1(AKT1):c.1260+1G>C rs112117625
NM_001382430.1(AKT1):c.1260+7C>G
NM_001382430.1(AKT1):c.1261-8C>T
NM_001382430.1(AKT1):c.1261C>T (p.Leu421Phe) rs1566815164
NM_001382430.1(AKT1):c.1267C>T (p.Pro423Ser)
NM_001382430.1(AKT1):c.126G>T (p.Pro42=)
NM_001382430.1(AKT1):c.1277A>C (p.Lys426Thr) rs1892344387
NM_001382430.1(AKT1):c.1278G>A (p.Lys426=) rs1595239120
NM_001382430.1(AKT1):c.1281C>T (p.Pro427=)
NM_001382430.1(AKT1):c.1284G>A (p.Gln428=)
NM_001382430.1(AKT1):c.1292C>T (p.Ser431Leu)
NM_001382430.1(AKT1):c.129G>A (p.Gln43=) rs2140949061
NM_001382430.1(AKT1):c.1303A>C (p.Thr435Pro) rs397514645
NM_001382430.1(AKT1):c.1305C>T (p.Thr435=)
NM_001382430.1(AKT1):c.1311T>C (p.Tyr437=)
NM_001382430.1(AKT1):c.1318G>A (p.Glu440Lys)
NM_001382430.1(AKT1):c.1320G>T (p.Glu440Asp) rs1159942120
NM_001382430.1(AKT1):c.1323G>A (p.Glu441=)
NM_001382430.1(AKT1):c.1341C>A (p.Ile447=) rs1060504820
NM_001382430.1(AKT1):c.1345A>T (p.Ile449Phe)
NM_001382430.1(AKT1):c.1351C>T (p.Pro451Ser) rs1892340313
NM_001382430.1(AKT1):c.1357G>C (p.Asp453His)
NM_001382430.1(AKT1):c.135G>A (p.Val45=)
NM_001382430.1(AKT1):c.1364-10A>C
NM_001382430.1(AKT1):c.1364-11T>C
NM_001382430.1(AKT1):c.1364-3C>T rs113777945
NM_001382430.1(AKT1):c.1364-9C>T
NM_001382430.1(AKT1):c.1373T>A (p.Met458Lys)
NM_001382430.1(AKT1):c.1383G>A (p.Val461=) rs763831402
NM_001382430.1(AKT1):c.1386C>T (p.Asp462=)
NM_001382430.1(AKT1):c.1387A>G (p.Ser463Gly)
NM_001382430.1(AKT1):c.1393C>T (p.Arg465Cys) rs770370100
NM_001382430.1(AKT1):c.1395C>G (p.Arg465=)
NM_001382430.1(AKT1):c.1397G>A (p.Arg466Lys)
NM_001382430.1(AKT1):c.1399C>T (p.Pro467Ser)
NM_001382430.1(AKT1):c.1419C>G (p.Ser473=) rs1221539515
NM_001382430.1(AKT1):c.141A>G (p.Gln47=)
NM_001382430.1(AKT1):c.141A>T (p.Gln47His)
NM_001382430.1(AKT1):c.1425G>A (p.Ser475=)
NM_001382430.1(AKT1):c.1437G>T (p.Thr479=) rs555187157
NM_001382430.1(AKT1):c.1440C>G (p.Ala480=) rs1892307322
NM_001382430.1(AKT1):c.148G>A (p.Ala50Thr)
NM_001382430.1(AKT1):c.153C>T (p.Pro51=)
NM_001382430.1(AKT1):c.161A>T (p.Asn54Ile)
NM_001382430.1(AKT1):c.165C>T (p.Phe55=) rs1892948975
NM_001382430.1(AKT1):c.16A>G (p.Ile6Val) rs1893685625
NM_001382430.1(AKT1):c.171G>A (p.Val57=)
NM_001382430.1(AKT1):c.175+16G>C rs2140948331
NM_001382430.1(AKT1):c.175+18C>G rs3730358
NM_001382430.1(AKT1):c.175+18C>T rs3730358
NM_001382430.1(AKT1):c.175+5G>A rs754417090
NM_001382430.1(AKT1):c.176-16C>T
NM_001382430.1(AKT1):c.176-19A>G
NM_001382430.1(AKT1):c.176-23_176-17del rs763840311
NM_001382430.1(AKT1):c.176-3C>G rs1401652672
NM_001382430.1(AKT1):c.176-3C>T
NM_001382430.1(AKT1):c.176-5C>A rs377076374
NM_001382430.1(AKT1):c.176-5C>G rs377076374
NM_001382430.1(AKT1):c.176-5C>T rs377076374
NM_001382430.1(AKT1):c.176-7C>T
NM_001382430.1(AKT1):c.179G>A (p.Cys60Tyr) rs923841704
NM_001382430.1(AKT1):c.17T>C (p.Ile6Thr)
NM_001382430.1(AKT1):c.186G>A (p.Leu62=)
NM_001382430.1(AKT1):c.195G>C (p.Thr65=)
NM_001382430.1(AKT1):c.200G>A (p.Arg67Gln) rs1396308032
NM_001382430.1(AKT1):c.222C>T (p.Ile74=) rs2140930465
NM_001382430.1(AKT1):c.225C>G (p.Ile75Met) rs587778019
NM_001382430.1(AKT1):c.226C>T (p.Arg76Cys) rs1012676649
NM_001382430.1(AKT1):c.230G>T (p.Cys77Phe)
NM_001382430.1(AKT1):c.236A>G (p.Gln79Arg) rs1057518602
NM_001382430.1(AKT1):c.253G>A (p.Glu85Lys) rs1566818890
NM_001382430.1(AKT1):c.257G>A (p.Arg86His) rs773971502
NM_001382430.1(AKT1):c.27G>A (p.Glu9=)
NM_001382430.1(AKT1):c.281A>C (p.Glu94Ala)
NM_001382430.1(AKT1):c.285G>A (p.Glu95=)
NM_001382430.1(AKT1):c.286C>T (p.Arg96Trp)
NM_001382430.1(AKT1):c.287+12G>A
NM_001382430.1(AKT1):c.287+14G>A
NM_001382430.1(AKT1):c.288-13T>A
NM_001382430.1(AKT1):c.288-1G>C
NM_001382430.1(AKT1):c.288-20C>T
NM_001382430.1(AKT1):c.288-28_288-9dup
NM_001382430.1(AKT1):c.288-4G>T rs778501455
NM_001382430.1(AKT1):c.288-7_288-5del rs1206923979
NM_001382430.1(AKT1):c.288-9_288-8delinsGA rs1892668261
NM_001382430.1(AKT1):c.309C>T (p.Ile103=) rs2140922911
NM_001382430.1(AKT1):c.314C>G (p.Thr105Ser)
NM_001382430.1(AKT1):c.318G>C (p.Val106=) rs761930839
NM_001382430.1(AKT1):c.328C>T (p.Leu110Phe) rs1892663954
NM_001382430.1(AKT1):c.333G>A (p.Lys111=)
NM_001382430.1(AKT1):c.340GAG[3] (p.Glu117del) rs768025881
NM_001382430.1(AKT1):c.340GAG[5] (p.Glu117dup) rs768025881
NM_001382430.1(AKT1):c.340GAG[6] (p.Glu117_Met118insGluGlu)
NM_001382430.1(AKT1):c.348G>A (p.Glu116=) rs1595245735
NM_001382430.1(AKT1):c.349G>A (p.Glu117Lys) rs776345122
NM_001382430.1(AKT1):c.351G>A (p.Glu117=) rs1268659696
NM_001382430.1(AKT1):c.356A>G (p.Asp119Gly) rs1566818099
NM_001382430.1(AKT1):c.357C>T (p.Asp119=) rs934041027
NM_001382430.1(AKT1):c.360C>A (p.Phe120Leu)
NM_001382430.1(AKT1):c.362G>T (p.Arg121Leu) rs1457484217
NM_001382430.1(AKT1):c.372_377del (p.Pro125_Ser126del)
NM_001382430.1(AKT1):c.377G>C (p.Ser126Thr) rs1892659749
NM_001382430.1(AKT1):c.383A>T (p.Asn128Ile)
NM_001382430.1(AKT1):c.399G>A (p.Glu133=) rs1892659025
NM_001382430.1(AKT1):c.412C>T (p.Leu138=) rs2140922009
NM_001382430.1(AKT1):c.415G>C (p.Ala139Pro) rs1566818045
NM_001382430.1(AKT1):c.416C>T (p.Ala139Val)
NM_001382430.1(AKT1):c.422C>T (p.Pro141Leu) rs2140921941
NM_001382430.1(AKT1):c.433G>A (p.Val145Met)
NM_001382430.1(AKT1):c.433G>C (p.Val145Leu)
NM_001382430.1(AKT1):c.435+10G>A
NM_001382430.1(AKT1):c.435+10G>T rs768098229
NM_001382430.1(AKT1):c.435+18T>C
NM_001382430.1(AKT1):c.436-4A>G rs1060504821
NM_001382430.1(AKT1):c.43C>A (p.Arg15=) rs2141006801
NM_001382430.1(AKT1):c.458T>C (p.Leu153Pro)
NM_001382430.1(AKT1):c.46+10C>G rs372014221
NM_001382430.1(AKT1):c.46+11G>A rs1461937719
NM_001382430.1(AKT1):c.46+16C>T rs1893684068
NM_001382430.1(AKT1):c.46+20G>A rs1893683680
NM_001382430.1(AKT1):c.46+20G>T
NM_001382430.1(AKT1):c.46+9C>G
NM_001382430.1(AKT1):c.46+9C>T rs376917061
NM_001382430.1(AKT1):c.468G>A (p.Leu156=) rs2140917965
NM_001382430.1(AKT1):c.47-4G>A rs772346934
NM_001382430.1(AKT1):c.47-4G>C rs772346934
NM_001382430.1(AKT1):c.47-4G>T rs772346934
NM_001382430.1(AKT1):c.47-4_47-3del rs1892956019
NM_001382430.1(AKT1):c.47-8G>A rs770565457
NM_001382430.1(AKT1):c.47-8G>T rs770565457
NM_001382430.1(AKT1):c.48G>C (p.Gly16=)
NM_001382430.1(AKT1):c.493A>G (p.Ile165Val) rs2140917455
NM_001382430.1(AKT1):c.493A>T (p.Ile165Phe)
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) rs121434592
NM_001382430.1(AKT1):c.4A>G (p.Ser2Gly) rs1566826869
NM_001382430.1(AKT1):c.512C>T (p.Ala171Val) rs768070795
NM_001382430.1(AKT1):c.515C>T (p.Thr172Ile) rs748789094
NM_001382430.1(AKT1):c.544AAG[1] (p.Lys183del) rs2140916645
NM_001382430.1(AKT1):c.545A>G (p.Lys182Arg) rs1555383695
NM_001382430.1(AKT1):c.552A>G (p.Glu184=) rs1422104904
NM_001382430.1(AKT1):c.55A>G (p.Ile19Val)
NM_001382430.1(AKT1):c.561G>A (p.Val187=) rs757639898
NM_001382430.1(AKT1):c.561G>T (p.Val187=)
NM_001382430.1(AKT1):c.567+13C>T
NM_001382430.1(AKT1):c.567+19G>T rs2140916086
NM_001382430.1(AKT1):c.567+20G>T
NM_001382430.1(AKT1):c.568-16C>G
NM_001382430.1(AKT1):c.568-16C>T
NM_001382430.1(AKT1):c.568-20C>T
NM_001382430.1(AKT1):c.576G>A (p.Val192=)
NM_001382430.1(AKT1):c.588C>T (p.Leu196=)
NM_001382430.1(AKT1):c.599G>A (p.Arg200His) rs1462219795
NM_001382430.1(AKT1):c.600C>T (p.Arg200=)
NM_001382430.1(AKT1):c.612C>T (p.Asn204=) rs1044733473
NM_001382430.1(AKT1):c.614C>G (p.Ser205Cys) rs1240566715
NM_001382430.1(AKT1):c.620A>T (p.His207Leu)
NM_001382430.1(AKT1):c.622C>G (p.Pro208Ala)
NM_001382430.1(AKT1):c.633+12C>A
NM_001382430.1(AKT1):c.633+12C>T
NM_001382430.1(AKT1):c.633+16G>C
NM_001382430.1(AKT1):c.633+19G>C
NM_001382430.1(AKT1):c.633+7G>T rs2140915221
NM_001382430.1(AKT1):c.633+8_633+9dup
NM_001382430.1(AKT1):c.633+9dup rs774067656
NM_001382430.1(AKT1):c.634-14C>T
NM_001382430.1(AKT1):c.634-15T>C
NM_001382430.1(AKT1):c.635C>G (p.Ala212Gly) rs1163499100
NM_001382430.1(AKT1):c.641A>G (p.Lys214Arg) rs2140910262
NM_001382430.1(AKT1):c.661G>A (p.Asp221Asn) rs762040581
NM_001382430.1(AKT1):c.662A>G (p.Asp221Gly)
NM_001382430.1(AKT1):c.669C>G (p.Leu223=) rs376531915
NM_001382430.1(AKT1):c.68G>A (p.Arg23Gln) rs1892954317
NM_001382430.1(AKT1):c.692A>G (p.Asn231Ser) rs1595243377
NM_001382430.1(AKT1):c.699C>T (p.Gly233=)
NM_001382430.1(AKT1):c.702+5G>A
NM_001382430.1(AKT1):c.702+5G>T
NM_001382430.1(AKT1):c.703-11G>A
NM_001382430.1(AKT1):c.705G>A (p.Leu235=) rs769090254
NM_001382430.1(AKT1):c.711C>T (p.Phe237=)
NM_001382430.1(AKT1):c.719C>G (p.Ser240Cys) rs773520823
NM_001382430.1(AKT1):c.722G>A (p.Arg241Gln) rs1244832277
NM_001382430.1(AKT1):c.727C>T (p.Arg243Cys) rs1340970650
NM_001382430.1(AKT1):c.734T>G (p.Phe245Cys) rs2140907264
NM_001382430.1(AKT1):c.739G>A (p.Glu247Lys)
NM_001382430.1(AKT1):c.741G>C (p.Glu247Asp) rs1229752019
NM_001382430.1(AKT1):c.745C>T (p.Arg249Trp) rs1458420660
NM_001382430.1(AKT1):c.747G>T (p.Arg249=) rs2140907069
NM_001382430.1(AKT1):c.749C>T (p.Ala250Val) rs1892523027
NM_001382430.1(AKT1):c.750C>G (p.Ala250=) rs1892522821
NM_001382430.1(AKT1):c.756C>T (p.Phe252=)
NM_001382430.1(AKT1):c.760G>A (p.Gly254Ser)
NM_001382430.1(AKT1):c.765T>A (p.Ala255=)
NM_001382430.1(AKT1):c.765T>C (p.Ala255=)
NM_001382430.1(AKT1):c.770T>C (p.Ile257Thr) rs1555383511
NM_001382430.1(AKT1):c.796T>G (p.Ser266Ala) rs1892518764
NM_001382430.1(AKT1):c.799G>A (p.Glu267Lys) rs1892518022
NM_001382430.1(AKT1):c.817C>T (p.Arg273Trp) rs2140906502
NM_001382430.1(AKT1):c.818G>A (p.Arg273Gln) rs1424916218
NM_001382430.1(AKT1):c.81C>T (p.Phe27=) rs749781543
NM_001382430.1(AKT1):c.822C>T (p.Asp274=) rs1555383496
NM_001382430.1(AKT1):c.828+11G>A rs370808079
NM_001382430.1(AKT1):c.828+13G>A
NM_001382430.1(AKT1):c.828+16_828+18delinsTTT rs2140906220
NM_001382430.1(AKT1):c.828+5G>A rs1199214347
NM_001382430.1(AKT1):c.828+5G>C rs1199214347
NM_001382430.1(AKT1):c.828+6C>G rs1892515105
NM_001382430.1(AKT1):c.828+7del rs1555383494
NM_001382430.1(AKT1):c.828+9G>A
NM_001382430.1(AKT1):c.829-4C>G
NM_001382430.1(AKT1):c.829-4C>T rs756663391
NM_001382430.1(AKT1):c.829-9T>C rs1892508128
NM_001382430.1(AKT1):c.844C>T (p.Leu282=)
NM_001382430.1(AKT1):c.87C>G (p.Leu29=) rs1161618144
NM_001382430.1(AKT1):c.916A>G (p.Met306Val) rs1892503990
NM_001382430.1(AKT1):c.917T>C (p.Met306Thr) rs1555383471
NM_001382430.1(AKT1):c.927T>C (p.Phe309=) rs1566816545
NM_001382430.1(AKT1):c.92A>G (p.Asn31Ser)
NM_001382430.1(AKT1):c.930C>T (p.Cys310=)
NM_001382430.1(AKT1):c.939T>C (p.Pro313=)
NM_001382430.1(AKT1):c.942G>A (p.Glu314=) rs2140905122
NM_001382430.1(AKT1):c.954C>A (p.Pro318=) rs746944273
NM_001382430.1(AKT1):c.957+13C>T
NM_001382430.1(AKT1):c.957+14C>T
NM_001382430.1(AKT1):c.957+15T>C rs1473754212
NM_001382430.1(AKT1):c.957+3G>A rs1219173005
NM_001382430.1(AKT1):c.957+3G>C
NM_001382430.1(AKT1):c.957+3G>T rs1219173005
NM_001382430.1(AKT1):c.957+6C>T
NM_001382430.1(AKT1):c.958-7C>G rs369048965
NM_001382430.1(AKT1):c.958-8C>T
NM_001382430.1(AKT1):c.960G>A (p.Val320=) rs1595242097
NM_001382430.1(AKT1):c.971A>G (p.Asn324Ser)
NM_001382430.1(AKT1):c.979G>A (p.Gly327Ser)
NM_001382430.1(AKT1):c.983G>A (p.Arg328His) rs1892486033
NM_001382430.1(AKT1):c.985G>A (p.Ala329Thr) rs2140902698
NM_001382430.1(AKT1):c.99C>T (p.Gly33=)

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