ClinVar Miner

List of variants reported as uncertain significance for Cowden disease by Invitae

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1444
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003002.4(SDHD):c.278A>G (p.Tyr93Cys) rs142135772 0.00049
NM_006363.6(SEC23B):c.1665+6T>C rs371786580 0.00046
NM_006363.6(SEC23B):c.1233+4C>T rs201883785 0.00040
NM_006218.4(PIK3CA):c.140A>G (p.His47Arg) rs190372148 0.00032
NM_006363.6(SEC23B):c.569G>A (p.Arg190Gln) rs201160833 0.00028
NM_001382430.1(AKT1):c.288-3C>T rs61761189 0.00016
NM_003002.4(SDHD):c.101T>G (p.Phe34Cys) rs141802836 0.00016
NM_003002.4(SDHD):c.255G>C (p.Leu85Phe) rs199517389 0.00013
NM_001382430.1(AKT1):c.7G>A (p.Asp3Asn) rs140532443 0.00011
NM_003002.4(SDHD):c.53C>T (p.Ala18Val) rs192332761 0.00011
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_006363.6(SEC23B):c.1636C>T (p.Arg546Trp) rs147135162 0.00007
NM_001382430.1(AKT1):c.1394G>A (p.Arg465His) rs113547523 0.00006
NM_001382430.1(AKT1):c.440T>C (p.Met147Thr) rs758456890 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_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_006218.4(PIK3CA):c.1528C>A (p.His510Asn) rs199747934 0.00005
NM_006218.4(PIK3CA):c.1544A>G (p.Asn515Ser) rs201371389 0.00005
NM_006363.6(SEC23B):c.82C>T (p.Arg28Trp) rs759146033 0.00005
NM_001382430.1(AKT1):c.10G>A (p.Val4Met) rs754031503 0.00004
NM_001382430.1(AKT1):c.1390G>A (p.Glu464Lys) rs745803788 0.00004
NM_001382430.1(AKT1):c.287+5G>A rs373853807 0.00004
NM_001382430.1(AKT1):c.828+4C>T rs3730330 0.00004
NM_006218.4(PIK3CA):c.178C>A (p.Gln60Lys) rs71310379 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_006363.6(SEC23B):c.53G>A (p.Arg18His) rs905074313 0.00004
NM_006363.6(SEC23B):c.916G>A (p.Asp306Asn) rs763130110 0.00004
NM_000314.8(PTEN):c.492G>A (p.Lys164=) rs146629065 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.1260+4C>T rs765999603 0.00003
NM_001382430.1(AKT1):c.1338G>T (p.Met446Ile) rs751976958 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.751C>T (p.Arg251Cys) rs780571834 0.00003
NM_003002.4(SDHD):c.107A>G (p.Gln36Arg) rs759143732 0.00003
NM_003002.4(SDHD):c.118A>G (p.Ile40Val) rs146276662 0.00003
NM_003002.4(SDHD):c.158C>T (p.Pro53Leu) rs149516118 0.00003
NM_003002.4(SDHD):c.38C>T (p.Ala13Val) rs750080041 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.2416+6G>A rs759918867 0.00003
NM_006363.6(SEC23B):c.2126A>G (p.Asn709Ser) rs778348206 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_001382430.1(AKT1):c.1243C>T (p.His415Tyr) rs777696700 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.199C>T (p.Arg67Trp) rs762559261 0.00002
NM_001382430.1(AKT1):c.278C>A (p.Pro93His) rs1296782302 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.664C>T (p.Arg222Cys) rs551254461 0.00002
NM_003002.4(SDHD):c.116C>T (p.Pro39Leu) rs752689382 0.00002
NM_003002.4(SDHD):c.122C>T (p.Pro41Leu) rs753724042 0.00002
NM_003002.4(SDHD):c.398C>A (p.Ala133Asp) rs755584530 0.00002
NM_003002.4(SDHD):c.464T>A (p.Met155Lys) rs1060503776 0.00002
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu) rs201372601 0.00002
NM_003002.4(SDHD):c.56T>C (p.Leu19Pro) rs574698019 0.00002
NM_006218.4(PIK3CA):c.141T>G (p.His47Gln) rs768265254 0.00002
NM_006218.4(PIK3CA):c.2667A>G (p.Ile889Met) rs17849078 0.00002
NM_006218.4(PIK3CA):c.341A>G (p.Asn114Ser) rs746860750 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_006363.6(SEC23B):c.2008C>T (p.Arg670Cys) rs752037101 0.00002
NM_006363.6(SEC23B):c.2009G>A (p.Arg670His) rs757662443 0.00002
NM_006363.6(SEC23B):c.2129C>T (p.Thr710Met) rs752664090 0.00002
NM_000314.8(PTEN):c.1001A>G (p.Asn334Ser) rs1206321984 0.00001
NM_000314.8(PTEN):c.1026+6T>A rs1274425509 0.00001
NM_000314.8(PTEN):c.1087A>G (p.Thr363Ala) rs765416558 0.00001
NM_000314.8(PTEN):c.1093G>A (p.Val365Ile) rs758542021 0.00001
NM_000314.8(PTEN):c.1115A>G (p.Asn372Ser) rs1370349057 0.00001
NM_000314.8(PTEN):c.1171C>T (p.Pro391Ser) rs786203911 0.00001
NM_000314.8(PTEN):c.1206A>C (p.Lys402Asn) rs1064796017 0.00001
NM_000314.8(PTEN):c.133G>A (p.Val45Ile) rs1382752324 0.00001
NM_000314.8(PTEN):c.349A>C (p.Asn117His) rs771310592 0.00001
NM_000314.8(PTEN):c.350A>G (p.Asn117Ser) rs551221430 0.00001
NM_000314.8(PTEN):c.425G>A (p.Arg142Gln) rs753630034 0.00001
NM_000314.8(PTEN):c.440A>G (p.Lys147Arg) rs757087471 0.00001
NM_000314.8(PTEN):c.451G>A (p.Ala151Thr) rs1859982098 0.00001
NM_000314.8(PTEN):c.472G>T (p.Val158Leu) rs1554898217 0.00001
NM_000314.8(PTEN):c.527A>G (p.Tyr176Cys) rs757498880 0.00001
NM_000314.8(PTEN):c.613A>G (p.Met205Val) rs776763121 0.00001
NM_000314.8(PTEN):c.614T>C (p.Met205Thr) rs1185592373 0.00001
NM_000314.8(PTEN):c.625G>A (p.Gly209Arg) rs765433422 0.00001
NM_000314.8(PTEN):c.673T>C (p.Tyr225His) rs876659433 0.00001
NM_000314.8(PTEN):c.823G>A (p.Val275Ile) rs1410198544 0.00001
NM_000314.8(PTEN):c.841C>G (p.Pro281Ala) rs750705904 0.00001
NM_000314.8(PTEN):c.865A>G (p.Lys289Glu) rs562015640 0.00001
NM_000314.8(PTEN):c.887G>A (p.Cys296Tyr) rs1060500121 0.00001
NM_000314.8(PTEN):c.901G>A (p.Asp301Asn) rs758644748 0.00001
NM_000314.8(PTEN):c.905G>A (p.Ser302Asn) rs745638189 0.00001
NM_000314.8(PTEN):c.908T>G (p.Ile303Ser) rs772018727 0.00001
NM_000314.8(PTEN):c.923G>A (p.Arg308His) rs786201507 0.00001
NM_000314.8(PTEN):c.956C>T (p.Thr319Ile) rs761350690 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.1092G>A (p.Glu364=) rs773975370 0.00001
NM_001382430.1(AKT1):c.1099C>T (p.Arg367Cys) rs762705090 0.00001
NM_001382430.1(AKT1):c.1109G>A (p.Arg370His) rs746272761 0.00001
NM_001382430.1(AKT1):c.1172+5G>A rs751392710 0.00001
NM_001382430.1(AKT1):c.1189G>A (p.Glu397Lys) rs531850885 0.00001
NM_001382430.1(AKT1):c.122G>A (p.Arg41Gln) rs766000895 0.00001
NM_001382430.1(AKT1):c.1289C>T (p.Thr430Met) rs749186394 0.00001
NM_001382430.1(AKT1):c.1361A>G (p.Gln454Arg) rs759702315 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.206G>A (p.Arg69Gln) rs183989506 0.00001
NM_001382430.1(AKT1):c.227G>A (p.Arg76His) rs771065764 0.00001
NM_001382430.1(AKT1):c.287+4C>T rs745831501 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.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.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.567+5G>T rs373741434 0.00001
NM_001382430.1(AKT1):c.665G>A (p.Arg222His) rs369698909 0.00001
NM_001382430.1(AKT1):c.721C>T (p.Arg241Trp) rs768606668 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.907G>A (p.Gly303Ser) rs1360111387 0.00001
NM_003002.4(SDHD):c.113G>A (p.Arg38Gln) rs199901239 0.00001
NM_003002.4(SDHD):c.124G>A (p.Glu42Lys) rs756995021 0.00001
NM_003002.4(SDHD):c.13T>C (p.Trp5Arg) rs778202647 0.00001
NM_003002.4(SDHD):c.148C>T (p.His50Tyr) rs779249550 0.00001
NM_003002.4(SDHD):c.167A>C (p.His56Pro) rs1555186817 0.00001
NM_003002.4(SDHD):c.180G>T (p.Lys60Asn) rs750688879 0.00001
NM_003002.4(SDHD):c.211G>A (p.Val71Ile) rs1428042303 0.00001
NM_003002.4(SDHD):c.217A>G (p.Ser73Gly) rs748545223 0.00001
NM_003002.4(SDHD):c.230T>C (p.Leu77Pro) rs777963699 0.00001
NM_003002.4(SDHD):c.243G>A (p.Pro81=) rs575262156 0.00001
NM_003002.4(SDHD):c.25G>T (p.Ala9Ser) rs772671893 0.00001
NM_003002.4(SDHD):c.281C>G (p.Ser94Cys) rs199754684 0.00001
NM_003002.4(SDHD):c.293C>T (p.Ala98Val) rs200980609 0.00001
NM_003002.4(SDHD):c.301C>T (p.Leu101Phe) rs1165258369 0.00001
NM_003002.4(SDHD):c.310C>G (p.His104Asp) rs779863605 0.00001
NM_003002.4(SDHD):c.328G>A (p.Val110Ile) rs1060503771 0.00001
NM_003002.4(SDHD):c.331G>A (p.Val111Ile) rs201869798 0.00001
NM_003002.4(SDHD):c.335C>T (p.Thr112Ile) rs199869408 0.00001
NM_003002.4(SDHD):c.344T>C (p.Val115Ala) rs1489012268 0.00001
NM_003002.4(SDHD):c.353A>G (p.Asp118Gly) rs750857413 0.00001
NM_003002.4(SDHD):c.356C>T (p.Ala119Val) rs758784300 0.00001
NM_003002.4(SDHD):c.35G>A (p.Gly12Asp) rs764384503 0.00001
NM_003002.4(SDHD):c.375G>T (p.Lys125Asn) rs878854595 0.00001
NM_003002.4(SDHD):c.388G>C (p.Ala130Pro) rs1312671864 0.00001
NM_003002.4(SDHD):c.400T>G (p.Leu134Val) rs200851392 0.00001
NM_003002.4(SDHD):c.421T>C (p.Tyr141His) rs1394514096 0.00001
NM_003002.4(SDHD):c.422A>G (p.Tyr141Cys) rs199772639 0.00001
NM_003002.4(SDHD):c.428A>G (p.Asn143Ser) rs770909248 0.00001
NM_003002.4(SDHD):c.430T>C (p.Tyr144His) rs774243340 0.00001
NM_003002.4(SDHD):c.431A>G (p.Tyr144Cys) rs745732631 0.00001
NM_003002.4(SDHD):c.433C>A (p.His145Asn) rs121908984 0.00001
NM_003002.4(SDHD):c.49C>G (p.Arg17Gly) rs1314133983 0.00001
NM_003002.4(SDHD):c.5C>T (p.Ala2Val) rs1440670464 0.00001
NM_003002.4(SDHD):c.82C>A (p.Pro28Thr) rs541477171 0.00001
NM_003002.4(SDHD):c.82C>T (p.Pro28Ser) rs541477171 0.00001
NM_003002.4(SDHD):c.85G>C (p.Ala29Pro) rs776930864 0.00001
NM_003002.4(SDHD):c.88C>T (p.His30Tyr) rs561759202 0.00001
NM_003002.4(SDHD):c.89A>C (p.His30Pro) rs1592778803 0.00001
NM_006218.4(PIK3CA):c.1234C>A (p.Arg412=) rs745676512 0.00001
NM_006218.4(PIK3CA):c.1304C>T (p.Thr435Ile) rs745847400 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.1432G>T (p.Asp478Tyr) rs772628045 0.00001
NM_006218.4(PIK3CA):c.1465A>G (p.Met489Val) rs1187304552 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.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.214A>G (p.Ser72Gly) rs1560137176 0.00001
NM_006218.4(PIK3CA):c.2187+3G>A rs758572428 0.00001
NM_006218.4(PIK3CA):c.2294+5T>C rs1265140191 0.00001
NM_006218.4(PIK3CA):c.2392G>A (p.Glu798Lys) rs1430412182 0.00001
NM_006218.4(PIK3CA):c.2422C>T (p.Arg808Trp) rs200671228 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.2554C>T (p.Arg852Ter) rs758795044 0.00001
NM_006218.4(PIK3CA):c.2555G>A (p.Arg852Gln) rs199943173 0.00001
NM_006218.4(PIK3CA):c.2623C>T (p.His875Tyr) rs892699659 0.00001
NM_006218.4(PIK3CA):c.2651A>G (p.Lys884Arg) rs1395235750 0.00001
NM_006218.4(PIK3CA):c.2776G>A (p.Asp926Asn) rs773300933 0.00001
NM_006218.4(PIK3CA):c.2936+6C>T rs547967000 0.00001
NM_006218.4(PIK3CA):c.2937-3T>C rs760056670 0.00001
NM_006218.4(PIK3CA):c.400C>T (p.Pro134Ser) rs750545881 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.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.814T>C (p.Tyr272His) rs1724476312 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
NM_006363.6(SEC23B):c.1400A>G (p.Asn467Ser) rs150210442 0.00001
NM_006363.6(SEC23B):c.1475C>T (p.Thr492Ile) rs757801115 0.00001
NM_006363.6(SEC23B):c.1483C>T (p.Arg495Cys) rs768018657 0.00001
NM_006363.6(SEC23B):c.1486A>G (p.Ile496Val) rs755836066 0.00001
NM_006363.6(SEC23B):c.221+3A>G rs777858803 0.00001
NM_006363.6(SEC23B):c.301A>G (p.Ile101Val) rs754320262 0.00001
NM_006363.6(SEC23B):c.890C>T (p.Thr297Ile) rs1363436677 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
NC_000010.10:g.(?_89621800)_(89624340_?)dup
NC_000010.10:g.(?_89621946)_(89623527_?)dup
NC_000010.10:g.(?_89622083)_(89623527_?)dup
NC_000010.10:g.(?_89622918)_(89624325_?)dup
NC_000010.10:g.(?_89622928)_(89725239_?)dup
NC_000010.10:g.(?_89624218)_(89624340_?)dup
NC_000010.10:g.(?_89711865)_(89720885_?)dup
NC_000010.10:g.(?_89711865)_(89725321_?)dup
NC_000010.11:g.(?_87862043)_(87863770_?)dup
NC_000010.11:g.(?_87863171)_(87863770_?)del
NC_000010.11:g.(?_87863171)_(87864558_?)dup
NC_000010.11:g.(?_87925503)_(87925567_?)dup
NC_000010.11:g.(?_87952108)_(87965482_?)dup
NC_000010.11:g.(?_87965277)_(87965564_?)dup
NC_000011.10:g.(?_112086823)_(112086969_?)dup
NC_000011.10:g.(?_112086823)_(112094970_?)dup
NC_000011.10:g.(?_112087802)_(112094970_?)dup
NC_000011.9:g.(?_111171709)_(111965694_?)dup
NC_000011.9:g.(?_111957547)_(111959745_?)dup
NC_000011.9:g.(?_111957622)_(111965704_?)dup
NC_000011.9:g.(?_111957632)_(111965694_?)dup
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
NC_000020.10:g.(?_18449649)_(18541384_?)dup
NC_000020.10:g.(?_18516277)_(18516406_?)del
NM_000314.8(PTEN):c.-844T>C rs587779995
NM_000314.8(PTEN):c.1001A>T (p.Asn334Ile)
NM_000314.8(PTEN):c.1004G>A (p.Arg335Gln) rs1085308040
NM_000314.8(PTEN):c.1006T>C (p.Tyr336His) rs1860633558
NM_000314.8(PTEN):c.1007A>G (p.Tyr336Cys)
NM_000314.8(PTEN):c.100G>A (p.Ala34Thr)
NM_000314.8(PTEN):c.100G>C (p.Ala34Pro) rs1589617199
NM_000314.8(PTEN):c.1012T>A (p.Ser338Thr) rs2132283644
NM_000314.8(PTEN):c.1013C>A (p.Ser338Tyr)
NM_000314.8(PTEN):c.1013C>G (p.Ser338Cys)
NM_000314.8(PTEN):c.1015C>T (p.Pro339Ser) rs1860634292
NM_000314.8(PTEN):c.1018A>C (p.Asn340His) rs759852661
NM_000314.8(PTEN):c.1018A>G (p.Asn340Asp) rs759852661
NM_000314.8(PTEN):c.1020T>A (p.Asn340Lys) rs1554825649
NM_000314.8(PTEN):c.1021T>A (p.Phe341Ile) rs1554825652
NM_000314.8(PTEN):c.1022T>G (p.Phe341Cys) rs1860635056
NM_000314.8(PTEN):c.1026+3C>T rs2132283767
NM_000314.8(PTEN):c.1026+4A>T rs2132283772
NM_000314.8(PTEN):c.1026+5G>C rs1860635601
NM_000314.8(PTEN):c.1026+5G>T
NM_000314.8(PTEN):c.1026G>A (p.Lys342=) rs398123314
NM_000314.8(PTEN):c.1027-1852A>G
NM_000314.8(PTEN):c.1027-72_1028del rs1860730253
NM_000314.8(PTEN):c.1027-7del rs2132289077
NM_000314.8(PTEN):c.1027G>A (p.Val343Met) rs1060500120
NM_000314.8(PTEN):c.1027G>T (p.Val343Leu)
NM_000314.8(PTEN):c.1033C>G (p.Leu345Val) rs1114167639
NM_000314.8(PTEN):c.1034T>A (p.Leu345Gln)
NM_000314.8(PTEN):c.1034T>C (p.Leu345Pro) rs1554826024
NM_000314.8(PTEN):c.1034T>G (p.Leu345Arg) rs1554826024
NM_000314.8(PTEN):c.1037A>G (p.Tyr346Cys) rs1554826026
NM_000314.8(PTEN):c.1041C>G (p.Phe347Leu) rs1554826029
NM_000314.8(PTEN):c.1042A>C (p.Thr348Pro)
NM_000314.8(PTEN):c.1052_1054del (p.Val351del) rs587780003
NM_000314.8(PTEN):c.1054G>C (p.Glu352Gln) rs1554826034
NM_000314.8(PTEN):c.1054GAG[1] (p.Glu353del) rs878853931
NM_000314.8(PTEN):c.1055A>G (p.Glu352Gly) rs2132289351
NM_000314.8(PTEN):c.1057G>A (p.Glu353Lys)
NM_000314.8(PTEN):c.1058A>G (p.Glu353Gly) rs878853932
NM_000314.8(PTEN):c.1061C>T (p.Pro354Leu) rs375709098
NM_000314.8(PTEN):c.1066A>G (p.Asn356Asp) rs587782345
NM_000314.8(PTEN):c.1066A>T (p.Asn356Tyr) rs587782345
NM_000314.8(PTEN):c.1068T>A (p.Asn356Lys) rs1564570356
NM_000314.8(PTEN):c.1069C>A (p.Pro357Thr) rs876661264
NM_000314.8(PTEN):c.1069C>G (p.Pro357Ala) rs876661264
NM_000314.8(PTEN):c.106G>A (p.Gly36Arg) rs786204854
NM_000314.8(PTEN):c.106G>C (p.Gly36Arg) rs786204854
NM_000314.8(PTEN):c.1072G>A (p.Glu358Lys) rs1554826040
NM_000314.8(PTEN):c.1072G>C (p.Glu358Gln) rs1554826040
NM_000314.8(PTEN):c.1074G>C (p.Glu358Asp) rs876659464
NM_000314.8(PTEN):c.1075G>T (p.Ala359Ser) rs864622594
NM_000314.8(PTEN):c.1079G>C (p.Ser360Thr) rs1060500127
NM_000314.8(PTEN):c.1081A>C (p.Ser361Arg) rs1472028496
NM_000314.8(PTEN):c.1088C>T (p.Thr363Ile) rs750585255
NM_000314.8(PTEN):c.1090T>C (p.Ser364Pro) rs1860735904
NM_000314.8(PTEN):c.1091C>G (p.Ser364Cys) rs1164665914
NM_000314.8(PTEN):c.1096A>G (p.Thr366Ala) rs1564570409
NM_000314.8(PTEN):c.10A>G (p.Ile4Val)
NM_000314.8(PTEN):c.1103A>T (p.Asp368Val) rs1860736589
NM_000314.8(PTEN):c.1105G>A (p.Val369Ile) rs587782224
NM_000314.8(PTEN):c.110_112del (p.Phe37_Pro38delinsSer)
NM_000314.8(PTEN):c.1114A>G (p.Asn372Asp) rs2132289789
NM_000314.8(PTEN):c.1123G>A (p.Asp375Asn) rs1564570429
NM_000314.8(PTEN):c.1123del (p.Asp375fs)
NM_000314.8(PTEN):c.1124A>G (p.Asp375Gly) rs1589669344
NM_000314.8(PTEN):c.112C>T (p.Pro38Ser) rs587780004
NM_000314.8(PTEN):c.1130A>T (p.Tyr377Phe) rs751286806
NM_000314.8(PTEN):c.1131_1132del (p.Tyr377_Arg378delinsTer) rs1860737554
NM_000314.8(PTEN):c.1132A>G (p.Arg378Gly) rs1554826055
NM_000314.8(PTEN):c.113C>A (p.Pro38His) rs1064796886
NM_000314.8(PTEN):c.1159C>T (p.Pro387Ser) rs2132290116
NM_000314.8(PTEN):c.115G>A (p.Ala39Thr) rs2132187379
NM_000314.8(PTEN):c.1160C>T (p.Pro387Leu) rs1564570452
NM_000314.8(PTEN):c.1164G>C (p.Glu388Asp) rs1860738430
NM_000314.8(PTEN):c.1164G>T (p.Glu388Asp) rs1860738430
NM_000314.8(PTEN):c.1166A>G (p.Asn389Ser) rs1860738514
NM_000314.8(PTEN):c.116C>A (p.Ala39Glu) rs2132187390
NM_000314.8(PTEN):c.116C>T (p.Ala39Val)
NM_000314.8(PTEN):c.1172C>T (p.Pro391Leu) rs1554826059
NM_000314.8(PTEN):c.1177G>T (p.Asp393Tyr) rs1860739011
NM_000314.8(PTEN):c.117A>G (p.Ala39=)
NM_000314.8(PTEN):c.1182A>T (p.Glu394Asp)
NM_000314.8(PTEN):c.1183G>T (p.Asp395Tyr)
NM_000314.8(PTEN):c.1189C>T (p.His397Tyr) rs1589669413
NM_000314.8(PTEN):c.1190A>G (p.His397Arg) rs876661021
NM_000314.8(PTEN):c.1190A>T (p.His397Leu) rs876661021
NM_000314.8(PTEN):c.1191T>G (p.His397Gln) rs1860739604
NM_000314.8(PTEN):c.1193C>T (p.Thr398Ile) rs1860739729
NM_000314.8(PTEN):c.1198A>G (p.Ile400Val) rs863224665
NM_000314.8(PTEN):c.11T>C (p.Ile4Thr) rs1858394571
NM_000314.8(PTEN):c.1202C>T (p.Thr401Ile) rs1860740005
NM_000314.8(PTEN):c.1204A>G (p.Lys402Glu) rs1554826064
NM_000314.8(PTEN):c.1207G>A (p.Val403Ile) rs2132290414
NM_000314.8(PTEN):c.1207G>T (p.Val403Phe)
NM_000314.8(PTEN):c.1212A>C (p.Ter404Cys) rs876660879
NM_000314.8(PTEN):c.1212A>T (p.Ter404Cys) rs876660879
NM_000314.8(PTEN):c.122G>A (p.Arg41Lys)
NM_000314.8(PTEN):c.125T>C (p.Leu42Pro) rs1859096966
NM_000314.8(PTEN):c.128A>C (p.Glu43Ala)
NM_000314.8(PTEN):c.130G>A (p.Gly44Ser) rs1554893812
NM_000314.8(PTEN):c.137A>G (p.Tyr46Cys) rs786204915
NM_000314.8(PTEN):c.13A>G (p.Ile5Val) rs1060500109
NM_000314.8(PTEN):c.13A>T (p.Ile5Phe) rs1060500109
NM_000314.8(PTEN):c.140G>A (p.Arg47Lys) rs1057518425
NM_000314.8(PTEN):c.143A>G (p.Asn48Ser) rs1859098783
NM_000314.8(PTEN):c.146A>G (p.Asn49Ser) rs992385562
NM_000314.8(PTEN):c.149T>C (p.Ile50Thr) rs1554893824
NM_000314.8(PTEN):c.14T>A (p.Ile5Asn) rs2132145451
NM_000314.8(PTEN):c.150T>G (p.Ile50Met) rs1564814601
NM_000314.8(PTEN):c.152A>G (p.Asp51Gly) rs1859099585
NM_000314.8(PTEN):c.152ATG[1] (p.Asp52del) rs1589617371
NM_000314.8(PTEN):c.152_160dup (p.Asp51_Val53dup) rs1564814602
NM_000314.8(PTEN):c.154G>A (p.Asp52Asn) rs1564814606
NM_000314.8(PTEN):c.156T>G (p.Asp52Glu)
NM_000314.8(PTEN):c.157G>A (p.Val53Ile)
NM_000314.8(PTEN):c.158_159delinsAT (p.Val53Asp) rs2132187834
NM_000314.8(PTEN):c.160G>A (p.Val54Ile) rs786204916
NM_000314.8(PTEN):c.163A>G (p.Arg55Gly)
NM_000314.8(PTEN):c.164+10C>G rs1859100909
NM_000314.8(PTEN):c.164+4A>G rs1554893837
NM_000314.8(PTEN):c.164+5G>A
NM_000314.8(PTEN):c.164G>A (p.Arg55Lys)
NM_000314.8(PTEN):c.165-3A>G rs2132232082
NM_000314.8(PTEN):c.165-4T>G rs1554897247
NM_000314.8(PTEN):c.165G>A (p.Arg55=) rs1859801849
NM_000314.8(PTEN):c.166T>G (p.Phe56Val) rs1589640376
NM_000314.8(PTEN):c.167T>A (p.Phe56Tyr)
NM_000314.8(PTEN):c.167T>G (p.Phe56Cys) rs748031178
NM_000314.8(PTEN):c.16A>G (p.Lys6Glu) rs1589596143
NM_000314.8(PTEN):c.172G>A (p.Asp58Asn) rs1554897255
NM_000314.8(PTEN):c.172G>T (p.Asp58Tyr) rs1554897255
NM_000314.8(PTEN):c.174T>G (p.Asp58Glu)
NM_000314.8(PTEN):c.175T>C (p.Ser59Pro) rs1060500118
NM_000314.8(PTEN):c.182A>G (p.His61Arg) rs398123316
NM_000314.8(PTEN):c.183T>G (p.His61Gln)
NM_000314.8(PTEN):c.184A>G (p.Lys62Glu) rs1564826779
NM_000314.8(PTEN):c.186A>C (p.Lys62Asn) rs1564826791
NM_000314.8(PTEN):c.188A>G (p.Asn63Ser) rs2132232249
NM_000314.8(PTEN):c.190C>A (p.His64Asn) rs587781535
NM_000314.8(PTEN):c.190C>T (p.His64Tyr) rs587781535
NM_000314.8(PTEN):c.191A>G (p.His64Arg) rs1589640471
NM_000314.8(PTEN):c.194A>G (p.Tyr65Cys) rs1859804047
NM_000314.8(PTEN):c.197_199dup (p.Lys66_Ile67insLys)
NM_000314.8(PTEN):c.199A>G (p.Ile67Val)
NM_000314.8(PTEN):c.199A>T (p.Ile67Leu)
NM_000314.8(PTEN):c.200T>A (p.Ile67Lys) rs1859804665
NM_000314.8(PTEN):c.200T>C (p.Ile67Thr) rs1859804665
NM_000314.8(PTEN):c.201A>G (p.Ile67Met)
NM_000314.8(PTEN):c.202T>A (p.Tyr68Asn) rs398123317
NM_000314.8(PTEN):c.206A>G (p.Asn69Ser) rs786204922
NM_000314.8(PTEN):c.206A>T (p.Asn69Ile)
NM_000314.8(PTEN):c.209+3_209+4dup rs1859806067
NM_000314.8(PTEN):c.209+4A>G rs2132232446
NM_000314.8(PTEN):c.209+5G>C rs1114167650
NM_000314.8(PTEN):c.209+6T>C rs1554897282
NM_000314.8(PTEN):c.210-14A>G
NM_000314.8(PTEN):c.212G>T (p.Cys71Phe) rs1554897856
NM_000314.8(PTEN):c.213T>G (p.Cys71Trp) rs1554897858
NM_000314.8(PTEN):c.214G>A (p.Ala72Thr)
NM_000314.8(PTEN):c.215C>G (p.Ala72Gly)
NM_000314.8(PTEN):c.21G>C (p.Glu7Asp) rs1554890337
NM_000314.8(PTEN):c.220A>G (p.Arg74Gly)
NM_000314.8(PTEN):c.224A>G (p.His75Arg)
NM_000314.8(PTEN):c.226T>C (p.Tyr76His) rs2132238814
NM_000314.8(PTEN):c.226_228del (p.Tyr76del) rs1554897864
NM_000314.8(PTEN):c.227A>G (p.Tyr76Cys) rs2132238825
NM_000314.8(PTEN):c.235G>T (p.Ala79Ser) rs202004587
NM_000314.8(PTEN):c.239A>C (p.Lys80Thr) rs1859921641
NM_000314.8(PTEN):c.254-14T>C
NM_000314.8(PTEN):c.254-18G>T
NM_000314.8(PTEN):c.254-9_254-8del
NM_000314.8(PTEN):c.255T>C (p.Val85=) rs1589645952
NM_000314.8(PTEN):c.271G>C (p.Glu91Gln)
NM_000314.8(PTEN):c.272A>G (p.Glu91Gly)
NM_000314.8(PTEN):c.273A>C (p.Glu91Asp) rs1589646019
NM_000314.8(PTEN):c.276C>G (p.Asp92Glu) rs779530981
NM_000314.8(PTEN):c.278A>T (p.His93Leu) rs121909238
NM_000314.8(PTEN):c.280A>T (p.Asn94Tyr)
NM_000314.8(PTEN):c.283C>A (p.Pro95Thr) rs1114167630
NM_000314.8(PTEN):c.283C>G (p.Pro95Ala)
NM_000314.8(PTEN):c.283C>T (p.Pro95Ser) rs1114167630
NM_000314.8(PTEN):c.286C>A (p.Pro96Thr)
NM_000314.8(PTEN):c.286C>G (p.Pro96Ala) rs398123320
NM_000314.8(PTEN):c.289C>G (p.Gln97Glu) rs786204928
NM_000314.8(PTEN):c.295G>C (p.Glu99Gln) rs2132242309
NM_000314.8(PTEN):c.299T>C (p.Leu100Pro) rs1589646108
NM_000314.8(PTEN):c.301A>C (p.Ile101Leu)
NM_000314.8(PTEN):c.304A>C (p.Lys102Gln) rs786202944
NM_000314.8(PTEN):c.304A>G (p.Lys102Glu) rs786202944
NM_000314.8(PTEN):c.307C>T (p.Pro103Ser)
NM_000314.8(PTEN):c.308C>G (p.Pro103Arg) rs1060500111
NM_000314.8(PTEN):c.30_32del (p.Ser10del) rs1114167649
NM_000314.8(PTEN):c.311T>C (p.Phe104Ser)
NM_000314.8(PTEN):c.318A>T (p.Glu106Asp) rs1859969915
NM_000314.8(PTEN):c.31A>G (p.Arg11Gly) rs1858395868
NM_000314.8(PTEN):c.323T>G (p.Leu108Arg)
NM_000314.8(PTEN):c.328C>G (p.Gln110Glu) rs1114167629
NM_000314.8(PTEN):c.329A>G (p.Gln110Arg) rs1564830013
NM_000314.8(PTEN):c.32G>A (p.Arg11Lys)
NM_000314.8(PTEN):c.331T>G (p.Trp111Gly) rs398123321
NM_000314.8(PTEN):c.333G>C (p.Trp111Cys) rs1554898097
NM_000314.8(PTEN):c.334C>G (p.Leu112Val) rs2132242699
NM_000314.8(PTEN):c.335T>A (p.Leu112Gln)
NM_000314.8(PTEN):c.343G>A (p.Asp115Asn)
NM_000314.8(PTEN):c.344A>G (p.Asp115Gly) rs869312775
NM_000314.8(PTEN):c.345T>A (p.Asp115Glu) rs2132242798
NM_000314.8(PTEN):c.348C>A (p.Asp116Glu) rs1114167651
NM_000314.8(PTEN):c.34A>C (p.Asn12His) rs1554890340
NM_000314.8(PTEN):c.34A>G (p.Asn12Asp) rs1554890340
NM_000314.8(PTEN):c.351T>A (p.Asn117Lys)
NM_000314.8(PTEN):c.352C>T (p.His118Tyr) rs1564830084
NM_000314.8(PTEN):c.353A>G (p.His118Arg) rs1554898107
NM_000314.8(PTEN):c.355G>T (p.Val119Phe) rs139767111
NM_000314.8(PTEN):c.359C>A (p.Ala120Glu) rs1114167647
NM_000314.8(PTEN):c.359C>G (p.Ala120Gly) rs1114167647
NM_000314.8(PTEN):c.359C>T (p.Ala120Val) rs1114167647
NM_000314.8(PTEN):c.35A>G (p.Asn12Ser) rs1085308044
NM_000314.8(PTEN):c.362C>T (p.Ala121Val) rs121909237
NM_000314.8(PTEN):c.364A>G (p.Ile122Val) rs786202740
NM_000314.8(PTEN):c.365T>G (p.Ile122Ser) rs1589646321
NM_000314.8(PTEN):c.373A>G (p.Lys125Glu) rs1554898127
NM_000314.8(PTEN):c.375A>C (p.Lys125Asn) rs2132243099
NM_000314.8(PTEN):c.377C>G (p.Ala126Gly) rs1114167656
NM_000314.8(PTEN):c.380G>C (p.Gly127Ala)
NM_000314.8(PTEN):c.380G>T (p.Gly127Val) rs398123322
NM_000314.8(PTEN):c.391A>G (p.Thr131Ala)
NM_000314.8(PTEN):c.392C>A (p.Thr131Asn)
NM_000314.8(PTEN):c.397G>A (p.Val133Ile) rs1859977307
NM_000314.8(PTEN):c.397G>T (p.Val133Leu)
NM_000314.8(PTEN):c.400A>G (p.Met134Val)
NM_000314.8(PTEN):c.401T>A (p.Met134Lys) rs1085308046
NM_000314.8(PTEN):c.402G>A (p.Met134Ile)
NM_000314.8(PTEN):c.402G>C (p.Met134Ile) rs1114167676
NM_000314.8(PTEN):c.404T>C (p.Ile135Thr) rs370795352
NM_000314.8(PTEN):c.405A>G (p.Ile135Met)
NM_000314.8(PTEN):c.408T>G (p.Cys136Trp) rs869312776
NM_000314.8(PTEN):c.409G>C (p.Ala137Pro) rs1859978482
NM_000314.8(PTEN):c.409_411delinsTTT (p.Ala137Phe) rs878853938
NM_000314.8(PTEN):c.40A>T (p.Arg14Trp)
NM_000314.8(PTEN):c.412T>C (p.Tyr138His) rs1859978750
NM_000314.8(PTEN):c.413A>G (p.Tyr138Cys) rs1554898159
NM_000314.8(PTEN):c.415T>A (p.Leu139Ile)
NM_000314.8(PTEN):c.415TTA[1] (p.Leu140del) rs1859979147
NM_000314.8(PTEN):c.417A>T (p.Leu139Phe)
NM_000314.8(PTEN):c.418T>A (p.Leu140Ile)
NM_000314.8(PTEN):c.41G>C (p.Arg14Thr) rs1589596246
NM_000314.8(PTEN):c.421C>G (p.His141Asp) rs1060500129
NM_000314.8(PTEN):c.421C>T (p.His141Tyr) rs1060500129
NM_000314.8(PTEN):c.422A>G (p.His141Arg) rs863224666
NM_000314.8(PTEN):c.424C>A (p.Arg142=) rs746152219
NM_000314.8(PTEN):c.424C>G (p.Arg142Gly)
NM_000314.8(PTEN):c.424C>T (p.Arg142Trp) rs746152219
NM_000314.8(PTEN):c.428G>A (p.Gly143Asp) rs786202047
NM_000314.8(PTEN):c.433T>C (p.Phe145Leu) rs2132243676
NM_000314.8(PTEN):c.436T>G (p.Leu146Val)
NM_000314.8(PTEN):c.442G>A (p.Ala148Thr) rs876660321
NM_000314.8(PTEN):c.449A>G (p.Glu150Gly) rs1554898193
NM_000314.8(PTEN):c.452C>A (p.Ala151Asp)
NM_000314.8(PTEN):c.452C>T (p.Ala151Val)
NM_000314.8(PTEN):c.454C>G (p.Leu152Val)
NM_000314.8(PTEN):c.455T>C (p.Leu152Pro) rs1554898197
NM_000314.8(PTEN):c.455T>G (p.Leu152Arg)
NM_000314.8(PTEN):c.457G>A (p.Asp153Asn) rs9651492
NM_000314.8(PTEN):c.460T>A (p.Phe154Ile)
NM_000314.8(PTEN):c.462C>A (p.Phe154Leu)
NM_000314.8(PTEN):c.462C>G (p.Phe154Leu) rs1859982800
NM_000314.8(PTEN):c.466G>A (p.Gly156Arg) rs1554898209
NM_000314.8(PTEN):c.466G>C (p.Gly156Arg)
NM_000314.8(PTEN):c.466_467delinsAA (p.Gly156Lys)
NM_000314.8(PTEN):c.46T>A (p.Tyr16Asn) rs1064796078
NM_000314.8(PTEN):c.470A>C (p.Glu157Ala) rs1085308051
NM_000314.8(PTEN):c.471A>G (p.Glu157=) rs1554898216
NM_000314.8(PTEN):c.476G>C (p.Arg159Thr)
NM_000314.8(PTEN):c.477G>C (p.Arg159Ser) rs1057519724
NM_000314.8(PTEN):c.478A>C (p.Thr160Pro) rs1060500128
NM_000314.8(PTEN):c.47A>C (p.Tyr16Ser)
NM_000314.8(PTEN):c.47A>G (p.Tyr16Cys)
NM_000314.8(PTEN):c.485A>T (p.Asp162Val)
NM_000314.8(PTEN):c.487A>C (p.Lys163Gln) rs1554898235
NM_000314.8(PTEN):c.488A>G (p.Lys163Arg) rs786202753
NM_000314.8(PTEN):c.490A>G (p.Lys164Glu)
NM_000314.8(PTEN):c.492+2dup rs1554898245
NM_000314.8(PTEN):c.492+3A>G rs1564830529
NM_000314.8(PTEN):c.492+5G>T rs1183929343
NM_000314.8(PTEN):c.493-6C>G rs1554900496
NM_000314.8(PTEN):c.494G>A (p.Gly165Glu) rs786204863
NM_000314.8(PTEN):c.496G>C (p.Val166Leu) rs780943695
NM_000314.8(PTEN):c.496G>T (p.Val166Leu) rs780943695
NM_000314.8(PTEN):c.496_498del (p.Val166del) rs1860415077
NM_000314.8(PTEN):c.502A>G (p.Ile168Val) rs1860415565
NM_000314.8(PTEN):c.502A>T (p.Ile168Phe)
NM_000314.8(PTEN):c.503T>C (p.Ile168Thr) rs1554900530
NM_000314.8(PTEN):c.508A>G (p.Ser170Gly) rs1554900534
NM_000314.8(PTEN):c.508A>T (p.Ser170Cys) rs1554900534
NM_000314.8(PTEN):c.50A>G (p.Gln17Arg) rs1858398407
NM_000314.8(PTEN):c.511C>G (p.Gln171Glu) rs786204864
NM_000314.8(PTEN):c.512A>C (p.Gln171Pro) rs786204865
NM_000314.8(PTEN):c.512A>G (p.Gln171Arg) rs786204865
NM_000314.8(PTEN):c.515G>T (p.Arg172Met) rs1589659399
NM_000314.8(PTEN):c.517C>A (p.Arg173Ser) rs121913293
NM_000314.8(PTEN):c.523G>T (p.Val175Leu) rs1860417734
NM_000314.8(PTEN):c.526TAT[2] (p.Tyr178del) rs587780711
NM_000314.8(PTEN):c.530A>G (p.Tyr177Cys) rs1564837839
NM_000314.8(PTEN):c.532T>C (p.Tyr178His)
NM_000314.8(PTEN):c.532T>G (p.Tyr178Asp) rs1860418734
NM_000314.8(PTEN):c.533A>G (p.Tyr178Cys) rs786204866
NM_000314.8(PTEN):c.536G>A (p.Ser179Asn) rs2132269260
NM_000314.8(PTEN):c.538T>C (p.Tyr180His) rs746280047
NM_000314.8(PTEN):c.54G>T (p.Glu18Asp) rs1554890388
NM_000314.8(PTEN):c.551A>G (p.Asn184Ser) rs587781895
NM_000314.8(PTEN):c.554A>G (p.His185Arg)
NM_000314.8(PTEN):c.556C>G (p.Leu186Val) rs1589659546
NM_000314.8(PTEN):c.55G>A (p.Asp19Asn) rs121909233
NM_000314.8(PTEN):c.560A>G (p.Asp187Gly) rs786204943
NM_000314.8(PTEN):c.562T>G (p.Tyr188Asp) rs1860421158
NM_000314.8(PTEN):c.563A>G (p.Tyr188Cys) rs2132269501
NM_000314.8(PTEN):c.568C>A (p.Pro190Thr) rs1860421606
NM_000314.8(PTEN):c.569C>G (p.Pro190Arg) rs1554900617
NM_000314.8(PTEN):c.569C>T (p.Pro190Leu) rs1554900617
NM_000314.8(PTEN):c.56A>G (p.Asp19Gly) rs1554890392
NM_000314.8(PTEN):c.571G>T (p.Val191Leu) rs1060500130
NM_000314.8(PTEN):c.574G>T (p.Ala192Ser)
NM_000314.8(PTEN):c.578T>C (p.Leu193Pro) rs1554900620
NM_000314.8(PTEN):c.583T>C (p.Phe195Leu) rs1860422659
NM_000314.8(PTEN):c.586C>G (p.His196Asp) rs1589659615
NM_000314.8(PTEN):c.587A>C (p.His196Pro) rs1564837944
NM_000314.8(PTEN):c.589A>G (p.Lys197Glu)
NM_000314.8(PTEN):c.592A>G (p.Met198Val) rs1554900633
NM_000314.8(PTEN):c.592ATG[1] (p.Met199del) rs1064793244
NM_000314.8(PTEN):c.593T>C (p.Met198Thr) rs1554900635
NM_000314.8(PTEN):c.596T>A (p.Met199Lys) rs587781538
NM_000314.8(PTEN):c.596T>C (p.Met199Thr) rs587781538
NM_000314.8(PTEN):c.597G>A (p.Met199Ile) rs1589659663
NM_000314.8(PTEN):c.597G>C (p.Met199Ile)
NM_000314.8(PTEN):c.59G>C (p.Gly20Ala) rs1064795967
NM_000314.8(PTEN):c.604A>G (p.Thr202Ala) rs786204944
NM_000314.8(PTEN):c.604A>T (p.Thr202Ser) rs786204944
NM_000314.8(PTEN):c.605C>G (p.Thr202Ser)
NM_000314.8(PTEN):c.607A>C (p.Ile203Leu)
NM_000314.8(PTEN):c.607A>G (p.Ile203Val) rs1564837997
NM_000314.8(PTEN):c.608T>G (p.Ile203Ser)
NM_000314.8(PTEN):c.610C>G (p.Pro204Ala) rs786204868
NM_000314.8(PTEN):c.610C>T (p.Pro204Ser) rs786204868
NM_000314.8(PTEN):c.611C>T (p.Pro204Leu) rs2132269834
NM_000314.8(PTEN):c.613A>T (p.Met205Leu) rs776763121
NM_000314.8(PTEN):c.615G>A (p.Met205Ile) rs1554900653
NM_000314.8(PTEN):c.616T>G (p.Phe206Val)
NM_000314.8(PTEN):c.620G>T (p.Ser207Ile)
NM_000314.8(PTEN):c.622G>A (p.Gly208Ser) rs1860425648
NM_000314.8(PTEN):c.623G>A (p.Gly208Asp) rs1860425741
NM_000314.8(PTEN):c.629C>T (p.Thr210Ile)
NM_000314.8(PTEN):c.631T>C (p.Cys211Arg) rs1860426392
NM_000314.8(PTEN):c.633C>G (p.Cys211Trp) rs121909232
NM_000314.8(PTEN):c.633C>T (p.Cys211=) rs121909232
NM_000314.8(PTEN):c.634+3A>C rs2132270104
NM_000314.8(PTEN):c.634+6T>G rs2132270115
NM_000314.8(PTEN):c.634A>C (p.Asn212His) rs1860426730
NM_000314.8(PTEN):c.635-12T>G
NM_000314.8(PTEN):c.635-17T>G
NM_000314.8(PTEN):c.635-3C>G rs1085308056
NM_000314.8(PTEN):c.635-9A>G rs1057520628
NM_000314.8(PTEN):c.635A>G (p.Asn212Ser) rs1554825156
NM_000314.8(PTEN):c.638C>T (p.Pro213Leu) rs1156887945
NM_000314.8(PTEN):c.63C>A (p.Phe21Leu) rs1858399493
NM_000314.8(PTEN):c.641A>T (p.Gln214Leu) rs1564566726
NM_000314.8(PTEN):c.643T>G (p.Phe215Val) rs1860539219
NM_000314.8(PTEN):c.645T>G (p.Phe215Leu)
NM_000314.8(PTEN):c.646G>A (p.Val216Met) rs1589663150
NM_000314.8(PTEN):c.649G>A (p.Val217Ile) rs121909234
NM_000314.8(PTEN):c.64G>C (p.Asp22His) rs876660420
NM_000314.8(PTEN):c.64G>T (p.Asp22Tyr) rs876660420
NM_000314.8(PTEN):c.650T>G (p.Val217Gly) rs1060500117
NM_000314.8(PTEN):c.652T>C (p.Cys218Arg)
NM_000314.8(PTEN):c.653G>A (p.Cys218Tyr) rs1860540059
NM_000314.8(PTEN):c.653G>C (p.Cys218Ser) rs1860540059
NM_000314.8(PTEN):c.653G>T (p.Cys218Phe)
NM_000314.8(PTEN):c.656A>C (p.Gln219Pro) rs1554825172
NM_000314.8(PTEN):c.664G>A (p.Val222Met) rs878853943
NM_000314.8(PTEN):c.664G>T (p.Val222Leu) rs878853943
NM_000314.8(PTEN):c.665T>C (p.Val222Ala) rs2132276621
NM_000314.8(PTEN):c.668A>G (p.Lys223Arg) rs778528056
NM_000314.8(PTEN):c.670A>T (p.Ile224Leu) rs1554825177
NM_000314.8(PTEN):c.671T>A (p.Ile224Lys) rs1589663235
NM_000314.8(PTEN):c.671T>C (p.Ile224Thr) rs1589663235
NM_000314.8(PTEN):c.672A>G (p.Ile224Met) rs786204946
NM_000314.8(PTEN):c.677C>T (p.Ser226Phe) rs2132276728
NM_000314.8(PTEN):c.67T>G (p.Leu23Val) rs876661244
NM_000314.8(PTEN):c.683A>C (p.Asn228Thr)
NM_000314.8(PTEN):c.683A>G (p.Asn228Ser) rs748240670
NM_000314.8(PTEN):c.685T>A (p.Ser229Thr) rs587781998
NM_000314.8(PTEN):c.68T>C (p.Leu23Ser)
NM_000314.8(PTEN):c.691C>A (p.Pro231Thr)
NM_000314.8(PTEN):c.692C>T (p.Pro231Leu) rs1554825190
NM_000314.8(PTEN):c.694A>G (p.Thr232Ala)
NM_000314.8(PTEN):c.695C>A (p.Thr232Lys)
NM_000314.8(PTEN):c.697C>G (p.Arg233Gly) rs121909219
NM_000314.8(PTEN):c.698G>A (p.Arg233Gln) rs770025422
NM_000314.8(PTEN):c.69_71dup (p.Leu23_Asp24insGlu) rs1589596417
NM_000314.8(PTEN):c.700C>T (p.Arg234Trp) rs786201730
NM_000314.8(PTEN):c.701G>A (p.Arg234Gln) rs121909235
NM_000314.8(PTEN):c.704A>C (p.Glu235Ala)
NM_000314.8(PTEN):c.706G>A (p.Asp236Asn) rs1860544115
NM_000314.8(PTEN):c.706G>C (p.Asp236His) rs1860544115
NM_000314.8(PTEN):c.706G>T (p.Asp236Tyr)
NM_000314.8(PTEN):c.707A>C (p.Asp236Ala)
NM_000314.8(PTEN):c.715A>G (p.Met239Val) rs786201758
NM_000314.8(PTEN):c.716T>C (p.Met239Thr) rs786204871
NM_000314.8(PTEN):c.716T>G (p.Met239Arg) rs786204871
NM_000314.8(PTEN):c.719A>G (p.Tyr240Cys)
NM_000314.8(PTEN):c.71A>C (p.Asp24Ala)
NM_000314.8(PTEN):c.721T>A (p.Phe241Ile) rs1554825207
NM_000314.8(PTEN):c.722T>C (p.Phe241Ser) rs121909240
NM_000314.8(PTEN):c.725A>T (p.Glu242Val) rs1860545768
NM_000314.8(PTEN):c.72C>A (p.Asp24Glu)
NM_000314.8(PTEN):c.72C>G (p.Asp24Glu) rs1320222638
NM_000314.8(PTEN):c.736C>A (p.Pro246Thr) rs1860546467
NM_000314.8(PTEN):c.73T>G (p.Leu25Val) rs398123326
NM_000314.8(PTEN):c.741_742insGGA (p.Leu247_Pro248insGly)
NM_000314.8(PTEN):c.743C>T (p.Pro248Leu)
NM_000314.8(PTEN):c.745G>A (p.Val249Met) rs2132277398
NM_000314.8(PTEN):c.746T>A (p.Val249Glu) rs2132277407
NM_000314.8(PTEN):c.74_79dup (p.Leu25_Thr26dup) rs1858401009
NM_000314.8(PTEN):c.750_751insCAC (p.Cys250_Gly251insHis) rs1860548195
NM_000314.8(PTEN):c.752G>C (p.Gly251Ala) rs1554825226
NM_000314.8(PTEN):c.752G>T (p.Gly251Val) rs1554825226
NM_000314.8(PTEN):c.758T>A (p.Ile253Asn) rs1554825235
NM_000314.8(PTEN):c.758T>C (p.Ile253Thr) rs1554825235
NM_000314.8(PTEN):c.758T>G (p.Ile253Ser) rs1554825235
NM_000314.8(PTEN):c.761A>G (p.Lys254Arg) rs1114167633
NM_000314.8(PTEN):c.767A>G (p.Glu256Gly)
NM_000314.8(PTEN):c.779A>G (p.Lys260Arg) rs1060500125
NM_000314.8(PTEN):c.783G>C (p.Gln261His)
NM_000314.8(PTEN):c.783G>T (p.Gln261His) rs760146269
NM_000314.8(PTEN):c.786C>A (p.Asn262Lys) rs2132277734
NM_000314.8(PTEN):c.78C>A (p.Thr26=) rs786201280
NM_000314.8(PTEN):c.78C>G (p.Thr26=) rs786201280
NM_000314.8(PTEN):c.79+19G>A
NM_000314.8(PTEN):c.79+3A>C
NM_000314.8(PTEN):c.79+3A>G rs771928902
NM_000314.8(PTEN):c.79+4T>C rs1554890415
NM_000314.8(PTEN):c.79+5C>G rs1564801891
NM_000314.8(PTEN):c.79+6C>T
NM_000314.8(PTEN):c.793C>G (p.Leu265Val) rs786204872
NM_000314.8(PTEN):c.794T>C (p.Leu265Pro) rs1335033900
NM_000314.8(PTEN):c.796A>G (p.Lys266Glu)
NM_000314.8(PTEN):c.79T>A (p.Tyr27Asn) rs746128825
NM_000314.8(PTEN):c.7G>A (p.Ala3Thr) rs1589596120
NM_000314.8(PTEN):c.80-14A>G
NM_000314.8(PTEN):c.80-14_92dup
NM_000314.8(PTEN):c.80-18C>T
NM_000314.8(PTEN):c.80-19C>T
NM_000314.8(PTEN):c.80-20T>C
NM_000314.8(PTEN):c.80-3C>G rs1554893746
NM_000314.8(PTEN):c.80-3C>T
NM_000314.8(PTEN):c.80-7T>G rs1554893742
NM_000314.8(PTEN):c.800A>C (p.Lys267Thr) rs1554825264
NM_000314.8(PTEN):c.800A>G (p.Lys267Arg) rs1554825264
NM_000314.8(PTEN):c.801+4T>C rs1860552857
NM_000314.8(PTEN):c.801+7A>G rs1211730867
NM_000314.8(PTEN):c.802-3T>A rs587780712
NM_000314.8(PTEN):c.802-3_802-2insTA rs1860615576
NM_000314.8(PTEN):c.802-51_802-13del rs1273383569
NM_000314.8(PTEN):c.802-9_802-8insC rs1860615257
NM_000314.8(PTEN):c.805A>G (p.Lys269Glu) rs1860616265
NM_000314.8(PTEN):c.808A>C (p.Met270Leu) rs1554825502
NM_000314.8(PTEN):c.808A>G (p.Met270Val) rs1554825502
NM_000314.8(PTEN):c.809T>A (p.Met270Lys) rs2132281749
NM_000314.8(PTEN):c.80A>C (p.Tyr27Ser) rs886041877
NM_000314.8(PTEN):c.810G>A (p.Met270Ile)
NM_000314.8(PTEN):c.816C>G (p.His272Gln)
NM_000314.8(PTEN):c.820T>C (p.Trp274Arg) rs1589665591
NM_000314.8(PTEN):c.820T>G (p.Trp274Gly)
NM_000314.8(PTEN):c.826A>G (p.Asn276Asp) rs1589665622
NM_000314.8(PTEN):c.827A>T (p.Asn276Ile) rs1860618095
NM_000314.8(PTEN):c.828T>A (p.Asn276Lys)
NM_000314.8(PTEN):c.82A>G (p.Ile28Val) rs1859092645
NM_000314.8(PTEN):c.830C>A (p.Thr277Lys) rs398123329
NM_000314.8(PTEN):c.833T>G (p.Phe278Cys) rs2132281915
NM_000314.8(PTEN):c.834C>A (p.Phe278Leu) rs867171992
NM_000314.8(PTEN):c.835_849del (p.Phe279_Pro283del)
NM_000314.8(PTEN):c.838A>G (p.Ile280Val) rs1474354667
NM_000314.8(PTEN):c.83T>C (p.Ile28Thr) rs1355570425
NM_000314.8(PTEN):c.83T>G (p.Ile28Ser) rs1355570425
NM_000314.8(PTEN):c.841C>T (p.Pro281Ser) rs750705904
NM_000314.8(PTEN):c.845G>A (p.Gly282Glu) rs1860619555
NM_000314.8(PTEN):c.847C>G (p.Pro283Ala) rs876658988
NM_000314.8(PTEN):c.847C>T (p.Pro283Ser) rs876658988
NM_000314.8(PTEN):c.848C>G (p.Pro283Arg) rs1860619820
NM_000314.8(PTEN):c.848C>T (p.Pro283Leu) rs1860619820
NM_000314.8(PTEN):c.84T>G (p.Ile28Met) rs2132187113
NM_000314.8(PTEN):c.852G>T (p.Glu284Asp) rs1860620187
NM_000314.8(PTEN):c.853G>A (p.Glu285Lys) rs1564568265
NM_000314.8(PTEN):c.855A>T (p.Glu285Asp) rs751888926
NM_000314.8(PTEN):c.856A>G (p.Thr286Ala)
NM_000314.8(PTEN):c.857C>A (p.Thr286Asn)
NM_000314.8(PTEN):c.859T>C (p.Ser287Pro) rs1554825526
NM_000314.8(PTEN):c.862G>A (p.Glu288Lys) rs1554825528
NM_000314.8(PTEN):c.868G>A (p.Val290Ile) rs35600253
NM_000314.8(PTEN):c.868G>C (p.Val290Leu) rs35600253
NM_000314.8(PTEN):c.869T>C (p.Val290Ala) rs876661234
NM_000314.8(PTEN):c.872A>G (p.Glu291Gly) rs1564568318
NM_000314.8(PTEN):c.875A>G (p.Asn292Ser) rs2132282266
NM_000314.8(PTEN):c.875A>T (p.Asn292Ile)
NM_000314.8(PTEN):c.878G>C (p.Gly293Ala)
NM_000314.8(PTEN):c.878G>T (p.Gly293Val) rs1860622339
NM_000314.8(PTEN):c.881G>A (p.Ser294Asn) rs1175543698
NM_000314.8(PTEN):c.886T>C (p.Cys296Arg) rs786202207
NM_000314.8(PTEN):c.888T>G (p.Cys296Trp) rs1589665853
NM_000314.8(PTEN):c.889G>C (p.Asp297His) rs370064195
NM_000314.8(PTEN):c.889G>T (p.Asp297Tyr) rs370064195
NM_000314.8(PTEN):c.88C>G (p.Pro30Ala)
NM_000314.8(PTEN):c.890A>G (p.Asp297Gly) rs2132282426
NM_000314.8(PTEN):c.892C>A (p.Gln298Lys) rs371387815
NM_000314.8(PTEN):c.893A>C (p.Gln298Pro)
NM_000314.8(PTEN):c.895G>A (p.Glu299Lys)
NM_000314.8(PTEN):c.896A>G (p.Glu299Gly) rs1554825550
NM_000314.8(PTEN):c.89C>G (p.Pro30Arg) rs1589617164
NM_000314.8(PTEN):c.89C>T (p.Pro30Leu) rs1589617164
NM_000314.8(PTEN):c.8C>T (p.Ala3Val) rs1564801650
NM_000314.8(PTEN):c.904A>G (p.Ser302Gly) rs1334444415
NM_000314.8(PTEN):c.906C>G (p.Ser302Arg) rs876660906
NM_000314.8(PTEN):c.907A>G (p.Ile303Val) rs1114167660
NM_000314.8(PTEN):c.913A>G (p.Ser305Gly) rs775461980
NM_000314.8(PTEN):c.914G>A (p.Ser305Asn) rs587780007
NM_000314.8(PTEN):c.914G>T (p.Ser305Ile) rs587780007
NM_000314.8(PTEN):c.915T>G (p.Ser305Arg) rs876658345
NM_000314.8(PTEN):c.916A>G (p.Ile306Val) rs786203858
NM_000314.8(PTEN):c.917T>C (p.Ile306Thr) rs2132282700
NM_000314.8(PTEN):c.918A>G (p.Ile306Met)
NM_000314.8(PTEN):c.919G>C (p.Glu307Gln) rs746930141
NM_000314.8(PTEN):c.91A>G (p.Asn31Asp) rs1859093459
NM_000314.8(PTEN):c.920A>G (p.Glu307Gly) rs1197734477
NM_000314.8(PTEN):c.921G>C (p.Glu307Asp)
NM_000314.8(PTEN):c.922C>T (p.Arg308Cys) rs1064794436
NM_000314.8(PTEN):c.923G>T (p.Arg308Leu)
NM_000314.8(PTEN):c.931_933del (p.Asn311del) rs1860627006
NM_000314.8(PTEN):c.932A>T (p.Asn311Ile)
NM_000314.8(PTEN):c.934G>A (p.Asp312Asn) rs878853946
NM_000314.8(PTEN):c.935A>G (p.Asp312Gly) rs863224667
NM_000314.8(PTEN):c.937A>C (p.Lys313Gln) rs1589666011
NM_000314.8(PTEN):c.93C>A (p.Asn31Lys) rs1170214930
NM_000314.8(PTEN):c.941A>C (p.Glu314Ala) rs1171478249
NM_000314.8(PTEN):c.941A>T (p.Glu314Val) rs1171478249
NM_000314.8(PTEN):c.946C>A (p.Leu316Ile) rs1554825577
NM_000314.8(PTEN):c.949G>A (p.Val317Ile) rs876658630
NM_000314.8(PTEN):c.949G>C (p.Val317Leu)
NM_000314.8(PTEN):c.94A>G (p.Ile32Val)
NM_000314.8(PTEN):c.953T>C (p.Leu318Pro)
NM_000314.8(PTEN):c.956C>A (p.Thr319Asn) rs761350690
NM_000314.8(PTEN):c.959T>C (p.Leu320Ser) rs1114167667
NM_000314.8(PTEN):c.95T>A (p.Ile32Asn) rs1057518329
NM_000314.8(PTEN):c.95T>C (p.Ile32Thr) rs1057518329
NM_000314.8(PTEN):c.968A>C (p.Asn323Thr) rs1589666155
NM_000314.8(PTEN):c.96T>C (p.Ile32=)
NM_000314.8(PTEN):c.971A>G (p.Asp324Gly) rs1589666167
NM_000314.8(PTEN):c.972T>A (p.Asp324Glu) rs1860630615
NM_000314.8(PTEN):c.974T>C (p.Leu325Pro) rs1114167654
NM_000314.8(PTEN):c.974T>G (p.Leu325Arg) rs1114167654
NM_000314.8(PTEN):c.978C>A (p.Asp326Glu) rs1860631336
NM_000314.8(PTEN):c.978C>G (p.Asp326Glu) rs1860631336
NM_000314.8(PTEN):c.984_998del (p.Lys330_Asn334del)
NM_000314.8(PTEN):c.986A>G (p.Asn329Ser) rs1860631722
NM_000314.8(PTEN):c.987_1001dup (p.Asn334_Arg335insLysAspLysAlaAsn)
NM_000314.8(PTEN):c.988A>G (p.Lys330Glu) rs1554825607
NM_000314.8(PTEN):c.98T>C (p.Ile33Thr) rs1554893771
NM_000314.8(PTEN):c.998C>A (p.Ala333Asp) rs1554825616
NM_000314.8(PTEN):c.999_1016del (p.Arg335_Asn340del) rs1589666237
NM_001126049.2(KLLN):c.-794_-783del rs587781340
NM_001382430.1(AKT1):c.1005G>A (p.Leu335=) rs758651475
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.1052A>G (p.Asn351Ser)
NM_001382430.1(AKT1):c.106A>G (p.Ile36Val) rs781339141
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.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.1117G>A (p.Gly373Ser)
NM_001382430.1(AKT1):c.1123G>A (p.Glu375Lys)
NM_001382430.1(AKT1):c.1130A>G (p.Lys377Arg) rs1480573852
NM_001382430.1(AKT1):c.1159G>A (p.Asp387Asn) rs1566816289
NM_001382430.1(AKT1):c.1166A>C (p.Lys389Thr) rs1390801321
NM_001382430.1(AKT1):c.1173G>A (p.Arg391=) rs889505130
NM_001382430.1(AKT1):c.117G>A (p.Lys39=) rs1595251382
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.125C>T (p.Pro42Leu)
NM_001382430.1(AKT1):c.1260+1G>C rs112117625
NM_001382430.1(AKT1):c.1261C>T (p.Leu421Phe) rs1566815164
NM_001382430.1(AKT1):c.1267C>T (p.Pro423Ser)
NM_001382430.1(AKT1):c.1277A>C (p.Lys426Thr) rs1892344387
NM_001382430.1(AKT1):c.1292C>T (p.Ser431Leu)
NM_001382430.1(AKT1):c.1318G>A (p.Glu440Lys)
NM_001382430.1(AKT1):c.1320G>T (p.Glu440Asp) rs1159942120
NM_001382430.1(AKT1):c.1345A>T (p.Ile449Phe)
NM_001382430.1(AKT1):c.1357G>C (p.Asp453His)
NM_001382430.1(AKT1):c.1364-3C>T rs113777945
NM_001382430.1(AKT1):c.1373T>A (p.Met458Lys)
NM_001382430.1(AKT1):c.1387A>G (p.Ser463Gly)
NM_001382430.1(AKT1):c.1393C>T (p.Arg465Cys) rs770370100
NM_001382430.1(AKT1):c.1397G>A (p.Arg466Lys)
NM_001382430.1(AKT1):c.1399C>T (p.Pro467Ser)
NM_001382430.1(AKT1):c.141A>T (p.Gln47His)
NM_001382430.1(AKT1):c.1440C>G (p.Ala480=) rs1892307322
NM_001382430.1(AKT1):c.148G>A (p.Ala50Thr)
NM_001382430.1(AKT1):c.161A>T (p.Asn54Ile)
NM_001382430.1(AKT1):c.16A>G (p.Ile6Val) rs1893685625
NM_001382430.1(AKT1):c.175+5G>A rs754417090
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.179G>A (p.Cys60Tyr) rs923841704
NM_001382430.1(AKT1):c.17T>C (p.Ile6Thr)
NM_001382430.1(AKT1):c.200G>A (p.Arg67Gln) rs1396308032
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.281A>C (p.Glu94Ala)
NM_001382430.1(AKT1):c.286C>T (p.Arg96Trp)
NM_001382430.1(AKT1):c.288-1G>C
NM_001382430.1(AKT1):c.288-28_288-9dup
NM_001382430.1(AKT1):c.288-9_288-8delinsGA rs1892668261
NM_001382430.1(AKT1):c.314C>G (p.Thr105Ser)
NM_001382430.1(AKT1):c.328C>T (p.Leu110Phe) rs1892663954
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.349G>A (p.Glu117Lys) rs776345122
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.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.458T>C (p.Leu153Pro)
NM_001382430.1(AKT1):c.47-4_47-3del rs1892956019
NM_001382430.1(AKT1):c.493A>G (p.Ile165Val) rs2140917455
NM_001382430.1(AKT1):c.493A>T (p.Ile165Phe)
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.55A>G (p.Ile19Val)
NM_001382430.1(AKT1):c.599G>A (p.Arg200His) rs1462219795
NM_001382430.1(AKT1):c.600C>T (p.Arg200=)
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.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.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.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.749C>T (p.Ala250Val) rs1892523027
NM_001382430.1(AKT1):c.760G>A (p.Gly254Ser)
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.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.829-4C>T rs756663391
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.92A>G (p.Asn31Ser)
NM_001382430.1(AKT1):c.954C>A (p.Pro318=) rs746944273
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.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_003002.4(SDHD):c.102T>A (p.Phe34Leu)
NM_003002.4(SDHD):c.102T>G (p.Phe34Leu)
NM_003002.4(SDHD):c.107A>C (p.Gln36Pro) rs759143732
NM_003002.4(SDHD):c.108G>T (p.Gln36His) rs766884646
NM_003002.4(SDHD):c.109G>A (p.Asp37Asn) rs1865654125
NM_003002.4(SDHD):c.10C>A (p.Leu4Ile)
NM_003002.4(SDHD):c.10C>T (p.Leu4Phe) rs1032016970
NM_003002.4(SDHD):c.110A>T (p.Asp37Val) rs1865654258
NM_003002.4(SDHD):c.113G>C (p.Arg38Pro) rs199901239
NM_003002.4(SDHD):c.115C>A (p.Pro39Thr) rs1043566340
NM_003002.4(SDHD):c.115C>T (p.Pro39Ser)
NM_003002.4(SDHD):c.118A>C (p.Ile40Leu) rs146276662
NM_003002.4(SDHD):c.119T>C (p.Ile40Thr) rs1592778916
NM_003002.4(SDHD):c.120C>G (p.Ile40Met) rs2135267285
NM_003002.4(SDHD):c.121C>G (p.Pro41Ala) rs764006625
NM_003002.4(SDHD):c.121C>T (p.Pro41Ser) rs764006625
NM_003002.4(SDHD):c.125A>G (p.Glu42Gly)
NM_003002.4(SDHD):c.131G>A (p.Cys44Tyr) rs1566692479
NM_003002.4(SDHD):c.136G>A (p.Val46Met) rs886047699
NM_003002.4(SDHD):c.136G>T (p.Val46Leu) rs886047699
NM_003002.4(SDHD):c.13T>A (p.Trp5Arg)
NM_003002.4(SDHD):c.140A>G (p.Gln47Arg) rs899706404
NM_003002.4(SDHD):c.145A>G (p.Ile49Val)
NM_003002.4(SDHD):c.146T>C (p.Ile49Thr) rs1555186808
NM_003002.4(SDHD):c.147A>G (p.Ile49Met) rs1566692534
NM_003002.4(SDHD):c.150C>G (p.His50Gln)
NM_003002.4(SDHD):c.154T>G (p.Ser52Ala)
NM_003002.4(SDHD):c.155C>T (p.Ser52Leu) rs587782210
NM_003002.4(SDHD):c.156_158del (p.Pro53del)
NM_003002.4(SDHD):c.157C>G (p.Pro53Ala) rs1865656629
NM_003002.4(SDHD):c.160A>C (p.Ser54Arg) rs2135267524
NM_003002.4(SDHD):c.164A>G (p.His55Arg)
NM_003002.4(SDHD):c.164A>T (p.His55Leu) rs1865656869
NM_003002.4(SDHD):c.167A>G (p.His56Arg) rs1555186817
NM_003002.4(SDHD):c.168T>A (p.His56Gln) rs1865657093
NM_003002.4(SDHD):c.169+3A>G rs1865657168
NM_003002.4(SDHD):c.169+5G>C rs1865657237
NM_003002.4(SDHD):c.16A>G (p.Arg6Gly) rs11547889
NM_003002.4(SDHD):c.170-12T>A
NM_003002.4(SDHD):c.170-5T>A rs1218549926
NM_003002.4(SDHD):c.170-6T>G rs753703004
NM_003002.4(SDHD):c.170C>G (p.Ser57Cys)
NM_003002.4(SDHD):c.170C>T (p.Ser57Phe) rs2135269128
NM_003002.4(SDHD):c.172G>A (p.Gly58Ser) rs1865684789
NM_003002.4(SDHD):c.173G>A (p.Gly58Asp)
NM_003002.4(SDHD):c.175T>C (p.Ser59Pro) rs1592780294
NM_003002.4(SDHD):c.176C>T (p.Ser59Phe) rs1592780300
NM_003002.4(SDHD):c.179A>C (p.Lys60Thr)
NM_003002.4(SDHD):c.179A>G (p.Lys60Arg)
NM_003002.4(SDHD):c.17G>A (p.Arg6Lys)
NM_003002.4(SDHD):c.180G>A (p.Lys60=) rs750688879
NM_003002.4(SDHD):c.181G>C (p.Ala61Pro)
NM_003002.4(SDHD):c.182C>T (p.Ala61Val)
NM_003002.4(SDHD):c.18G>T (p.Arg6Ser) rs200895313
NM_003002.4(SDHD):c.190C>G (p.Leu64Val)
NM_003002.4(SDHD):c.194A>G (p.His65Arg) rs780226013
NM_003002.4(SDHD):c.199A>G (p.Thr67Ala) rs2135269250
NM_003002.4(SDHD):c.200C>A (p.Thr67Asn) rs1592780362
NM_003002.4(SDHD):c.203G>C (p.Ser68Thr)
NM_003002.4(SDHD):c.204C>A (p.Ser68Arg)
NM_003002.4(SDHD):c.209G>A (p.Arg70Lys) rs755047928
NM_003002.4(SDHD):c.209G>C (p.Arg70Thr) rs755047928
NM_003002.4(SDHD):c.20T>A (p.Leu7Gln) rs1865619523
NM_003002.4(SDHD):c.20T>C (p.Leu7Pro) rs1865619523
NM_003002.4(SDHD):c.20T>G (p.Leu7Arg) rs1865619523
NM_003002.4(SDHD):c.211G>T (p.Val71Phe) rs1428042303
NM_003002.4(SDHD):c.220G>A (p.Val74Ile)
NM_003002.4(SDHD):c.224T>C (p.Leu75Ser) rs1060503777
NM_003002.4(SDHD):c.225G>C (p.Leu75Phe) rs1865687714
NM_003002.4(SDHD):c.226C>T (p.Leu76Phe) rs1865687801
NM_003002.4(SDHD):c.227T>C (p.Leu76Pro) rs1865687896
NM_003002.4(SDHD):c.22A>G (p.Ser8Gly) rs1865619629
NM_003002.4(SDHD):c.231G>A (p.Leu77=) rs1187106228
NM_003002.4(SDHD):c.232G>A (p.Gly78Ser)
NM_003002.4(SDHD):c.232G>C (p.Gly78Arg) rs1592780479
NM_003002.4(SDHD):c.233G>T (p.Gly78Val) rs1865688426
NM_003002.4(SDHD):c.238C>T (p.Leu80Phe) rs1592780488
NM_003002.4(SDHD):c.23G>A (p.Ser8Asn) rs558914063
NM_003002.4(SDHD):c.242C>G (p.Pro81Arg) rs80338844
NM_003002.4(SDHD):c.244G>C (p.Ala82Pro) rs745559875
NM_003002.4(SDHD):c.244G>T (p.Ala82Ser) rs745559875
NM_003002.4(SDHD):c.247G>A (p.Ala83Thr)
NM_003002.4(SDHD):c.248C>T (p.Ala83Val) rs370165653
NM_003002.4(SDHD):c.251A>C (p.Tyr84Ser)
NM_003002.4(SDHD):c.255G>T (p.Leu85Phe) rs199517389
NM_003002.4(SDHD):c.259C>T (p.Pro87Ser) rs1279566824
NM_003002.4(SDHD):c.25G>A (p.Ala9Thr) rs772671893
NM_003002.4(SDHD):c.260C>A (p.Pro87His)
NM_003002.4(SDHD):c.263G>T (p.Cys88Phe) rs1592780559
NM_003002.4(SDHD):c.268G>A (p.Ala90Thr) rs765102002
NM_003002.4(SDHD):c.268_269delinsTT (p.Ala90Leu) rs1555187033
NM_003002.4(SDHD):c.269C>G (p.Ala90Gly)
NM_003002.4(SDHD):c.26C>G (p.Ala9Gly) rs1592777287
NM_003002.4(SDHD):c.26C>T (p.Ala9Val) rs1592777287
NM_003002.4(SDHD):c.271A>T (p.Met91Leu) rs2135269615
NM_003002.4(SDHD):c.272T>A (p.Met91Lys) rs1592780595
NM_003002.4(SDHD):c.272T>C (p.Met91Thr)
NM_003002.4(SDHD):c.274G>A (p.Asp92Asn)
NM_003002.4(SDHD):c.276C>G (p.Asp92Glu)
NM_003002.4(SDHD):c.277T>C (p.Tyr93His) rs1592780620
NM_003002.4(SDHD):c.281C>T (p.Ser94Phe) rs199754684
NM_003002.4(SDHD):c.283C>G (p.Leu95Val) rs1865691704
NM_003002.4(SDHD):c.286G>A (p.Ala96Thr) rs1265437700
NM_003002.4(SDHD):c.288_290del (p.Ala98del) rs1566694825
NM_003002.4(SDHD):c.28G>A (p.Val10Ile) rs1555186671
NM_003002.4(SDHD):c.290C>T (p.Ala97Val) rs756533450
NM_003002.4(SDHD):c.292G>C (p.Ala98Pro) rs1865692235
NM_003002.4(SDHD):c.292G>T (p.Ala98Ser) rs1865692235
NM_003002.4(SDHD):c.295C>G (p.Leu99Val) rs1865692425
NM_003002.4(SDHD):c.298A>G (p.Thr100Ala) rs1555187065
NM_003002.4(SDHD):c.299C>T (p.Thr100Ile) rs557454864
NM_003002.4(SDHD):c.301C>G (p.Leu101Val) rs1165258369
NM_003002.4(SDHD):c.302T>A (p.Leu101His) rs2135269810
NM_003002.4(SDHD):c.307G>C (p.Gly103Arg)
NM_003002.4(SDHD):c.308G>A (p.Gly103Asp)
NM_003002.4(SDHD):c.313T>C (p.Trp105Arg)
NM_003002.4(SDHD):c.314+2C>T rs1340664447
NM_003002.4(SDHD):c.314+3A>C rs1555187084
NM_003002.4(SDHD):c.314+4A>G rs1592780789
NM_003002.4(SDHD):c.314+5G>A rs1566695035
NM_003002.4(SDHD):c.314+6T>C rs1555187085
NM_003002.4(SDHD):c.315-2A>G rs2135277333
NM_003002.4(SDHD):c.315-3T>C rs1555187565
NM_003002.4(SDHD):c.315-3del rs1566702297
NM_003002.4(SDHD):c.315-7_315-5delinsAAA rs1060503775
NM_003002.4(SDHD):c.315G>T (p.Trp105Cys)
NM_003002.4(SDHD):c.319C>T (p.Leu107Phe) rs1209781530
NM_003002.4(SDHD):c.323_324delinsTT (p.Gly108Val)
NM_003002.4(SDHD):c.328GTT[1] (p.Val111del) rs1555187580
NM_003002.4(SDHD):c.331G>C (p.Val111Leu)
NM_003002.4(SDHD):c.332T>C (p.Val111Ala) rs1592786183
NM_003002.4(SDHD):c.334A>G (p.Thr112Ala) rs1865809730
NM_003002.4(SDHD):c.337G>C (p.Asp113His)
NM_003002.4(SDHD):c.338A>G (p.Asp113Gly) rs786202513
NM_003002.4(SDHD):c.338A>T (p.Asp113Val) rs786202513
NM_003002.4(SDHD):c.346C>T (p.His116Tyr) rs2135277443
NM_003002.4(SDHD):c.347A>T (p.His116Leu) rs2135277447
NM_003002.4(SDHD):c.34G>C (p.Gly12Arg)
NM_003002.4(SDHD):c.352G>A (p.Asp118Asn) rs1865810526
NM_003002.4(SDHD):c.352_353delinsAT (p.Asp118Ile)
NM_003002.4(SDHD):c.353A>C (p.Asp118Ala)
NM_003002.4(SDHD):c.354T>G (p.Asp118Glu) rs911663426
NM_003002.4(SDHD):c.355G>T (p.Ala119Ser) rs930768406
NM_003002.4(SDHD):c.356C>A (p.Ala119Asp) rs758784300
NM_003002.4(SDHD):c.35G>T (p.Gly12Val) rs764384503
NM_003002.4(SDHD):c.365A>G (p.Lys122Arg)
NM_003002.4(SDHD):c.370G>A (p.Ala124Thr) rs1865811145
NM_003002.4(SDHD):c.370G>T (p.Ala124Ser)
NM_003002.4(SDHD):c.371C>T (p.Ala124Val) rs1865811210
NM_003002.4(SDHD):c.374A>G (p.Lys125Arg) rs1592786256
NM_003002.4(SDHD):c.376G>A (p.Ala126Thr) rs1592786265
NM_003002.4(SDHD):c.376G>T (p.Ala126Ser)
NM_003002.4(SDHD):c.377C>T (p.Ala126Val)
NM_003002.4(SDHD):c.37G>A (p.Ala13Thr) rs940936212
NM_003002.4(SDHD):c.37G>T (p.Ala13Ser) rs940936212
NM_003002.4(SDHD):c.380G>A (p.Gly127Glu)
NM_003002.4(SDHD):c.386T>C (p.Leu129Ser) rs201726097
NM_003002.4(SDHD):c.386T>G (p.Leu129Trp) rs201726097
NM_003002.4(SDHD):c.388G>T (p.Ala130Ser) rs1312671864
NM_003002.4(SDHD):c.389C>G (p.Ala130Gly) rs1049692537
NM_003002.4(SDHD):c.389C>T (p.Ala130Val)
NM_003002.4(SDHD):c.38C>G (p.Ala13Gly) rs750080041
NM_003002.4(SDHD):c.394T>G (p.Ser132Ala) rs2135277611
NM_003002.4(SDHD):c.397G>A (p.Ala133Thr) rs1060503774
NM_003002.4(SDHD):c.397G>C (p.Ala133Pro) rs1060503774
NM_003002.4(SDHD):c.398C>G (p.Ala133Gly)
NM_003002.4(SDHD):c.404C>T (p.Thr135Ile) rs2135277637
NM_003002.4(SDHD):c.408T>A (p.Phe136Leu)
NM_003002.4(SDHD):c.409G>A (p.Ala137Thr) rs1555187611
NM_003002.4(SDHD):c.409G>C (p.Ala137Pro) rs1555187611
NM_003002.4(SDHD):c.410C>T (p.Ala137Val) rs749250498
NM_003002.4(SDHD):c.419G>A (p.Cys140Tyr) rs2135277691
NM_003002.4(SDHD):c.426C>G (p.Phe142Leu) rs2135277712
NM_003002.4(SDHD):c.427A>C (p.Asn143His)
NM_003002.4(SDHD):c.427A>G (p.Asn143Asp) rs1865812863
NM_003002.4(SDHD):c.430_435del (p.Tyr144_His145del)
NM_003002.4(SDHD):c.431A>T (p.Tyr144Phe) rs745732631
NM_003002.4(SDHD):c.433C>T (p.His145Tyr)
NM_003002.4(SDHD):c.436G>A (p.Asp146Asn) rs1592786384
NM_003002.4(SDHD):c.436G>T (p.Asp146Tyr) rs1592786384
NM_003002.4(SDHD):c.439G>A (p.Val147Met) rs1865813583
NM_003002.4(SDHD):c.43G>C (p.Gly15Arg) rs1476121898
NM_003002.4(SDHD):c.443G>A (p.Gly148Asp)
NM_003002.4(SDHD):c.445A>G (p.Ile149Val) rs1865813813
NM_003002.4(SDHD):c.446T>G (p.Ile149Ser) rs1295620545
NM_003002.4(SDHD):c.449G>C (p.Cys150Ser)
NM_003002.4(SDHD):c.44G>A (p.Gly15Glu)
NM_003002.4(SDHD):c.44G>C (p.Gly15Ala) rs1865621392
NM_003002.4(SDHD):c.453A>C (p.Lys151Asn) rs761953172
NM_003002.4(SDHD):c.454G>A (p.Ala152Thr) rs1865814160
NM_003002.4(SDHD):c.455_463del (p.Ala152_Met155delinsVal) rs1592786423
NM_003002.4(SDHD):c.458T>C (p.Val153Ala) rs1555187644
NM_003002.4(SDHD):c.461C>T (p.Ala154Val)
NM_003002.4(SDHD):c.463A>G (p.Met155Val) rs2135277828
NM_003002.4(SDHD):c.464T>C (p.Met155Thr)
NM_003002.4(SDHD):c.466C>G (p.Leu156Val)
NM_003002.4(SDHD):c.46G>C (p.Gly16Arg) rs1555186687
NM_003002.4(SDHD):c.46G>T (p.Gly16Cys) rs1555186687
NM_003002.4(SDHD):c.473_*3dup (p.Lys158_Ter160=) rs878854596
NM_003002.4(SDHD):c.474G>T (p.Lys158Asn) rs1377208267
NM_003002.4(SDHD):c.474_475delinsTT (p.Lys158_Leu159delinsAsnPhe)
NM_003002.4(SDHD):c.476T>C (p.Leu159Pro) rs2135277858
NM_003002.4(SDHD):c.478T>A (p.Ter160Arg) rs1555187655
NM_003002.4(SDHD):c.478T>G (p.Ter160Gly)
NM_003002.4(SDHD):c.479G>C (p.Ter160Ser)
NM_003002.4(SDHD):c.47G>A (p.Gly16Asp)
NM_003002.4(SDHD):c.47G>T (p.Gly16Val)
NM_003002.4(SDHD):c.480A>G (p.Ter160Trp) rs587778663
NM_003002.4(SDHD):c.480A>T (p.Ter160Cys)
NM_003002.4(SDHD):c.4G>A (p.Ala2Thr) rs1401420432
NM_003002.4(SDHD):c.50G>A (p.Arg17Gln) rs1865621723
NM_003002.4(SDHD):c.51A>C (p.Arg17=) rs199890548
NM_003002.4(SDHD):c.52+5G>A rs1592777393
NM_003002.4(SDHD):c.52+5G>C rs1592777393
NM_003002.4(SDHD):c.53-10_53-9del
NM_003002.4(SDHD):c.53-11T>C
NM_003002.4(SDHD):c.53-16A>G rs915385437
NM_003002.4(SDHD):c.53-3C>T
NM_003002.4(SDHD):c.53-6C>A rs757454290
NM_003002.4(SDHD):c.53-7_53-3del rs1865650219
NM_003002.4(SDHD):c.53-9_53-6del rs1592778629
NM_003002.4(SDHD):c.58T>A (p.Leu20Met) rs1298878168
NM_003002.4(SDHD):c.5C>G (p.Ala2Gly) rs1440670464
NM_003002.4(SDHD):c.61C>T (p.Leu21Phe) rs1592778703
NM_003002.4(SDHD):c.62T>C (p.Leu21Pro)
NM_003002.4(SDHD):c.64C>A (p.Arg22=) rs104894306
NM_003002.4(SDHD):c.65G>A (p.Arg22Gln) rs1555186772
NM_003002.4(SDHD):c.65G>C (p.Arg22Pro)
NM_003002.4(SDHD):c.70C>T (p.Pro24Ser) rs775986509
NM_003002.4(SDHD):c.71C>T (p.Pro24Leu) rs1865651909
NM_003002.4(SDHD):c.73G>T (p.Val25Leu) rs878854597
NM_003002.4(SDHD):c.7G>A (p.Val3Ile) rs1555186656
NM_003002.4(SDHD):c.7G>C (p.Val3Leu) rs1555186656
NM_003002.4(SDHD):c.7G>T (p.Val3Phe) rs1555186656
NM_003002.4(SDHD):c.82C>G (p.Pro28Ala) rs541477171
NM_003002.4(SDHD):c.83C>A (p.Pro28His) rs2135267114
NM_003002.4(SDHD):c.85G>A (p.Ala29Thr)
NM_003002.4(SDHD):c.86C>T (p.Ala29Val) rs1555186774
NM_003002.4(SDHD):c.91A>G (p.Ile31Val) rs1865653068
NM_003002.4(SDHD):c.93C>G (p.Ile31Met)
NM_003002.4(SDHD):c.94T>G (p.Ser32Ala)
NM_003002.4(SDHD):c.95C>T (p.Ser32Leu) rs104894305
NM_003002.4(SDHD):c.97G>A (p.Ala33Thr) rs2135267174
NM_003002.4(SDHD):c.98C>A (p.Ala33Glu)
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.103G>C (p.Glu35Gln) rs2108385365
NM_006218.4(PIK3CA):c.1055A>T (p.Asp352Val) rs1724484731
NM_006218.4(PIK3CA):c.1064A>G (p.Tyr355Cys) rs2108394261
NM_006218.4(PIK3CA):c.1082A>G (p.Tyr361Cys) rs1724506239
NM_006218.4(PIK3CA):c.112C>T (p.Arg38Cys) rs749415085
NM_006218.4(PIK3CA):c.1130C>T (p.Pro377Leu)
NM_006218.4(PIK3CA):c.1136C>G (p.Ser379Cys) rs1724507950
NM_006218.4(PIK3CA):c.1145+4A>G rs1724508525
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.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.1251+1G>C
NM_006218.4(PIK3CA):c.1251+3A>G
NM_006218.4(PIK3CA):c.1279A>G (p.Ile427Val)
NM_006218.4(PIK3CA):c.1292A>T (p.Asp431Val)
NM_006218.4(PIK3CA):c.1306C>G (p.Leu436Val) rs1365836230
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.1343_1357del (p.Val448_Leu452del) rs1724673930
NM_006218.4(PIK3CA):c.134T>C (p.Ile45Thr)
NM_006218.4(PIK3CA):c.139C>T (p.His47Tyr) rs1724336565
NM_006218.4(PIK3CA):c.1404+3A>T
NM_006218.4(PIK3CA):c.1404+6G>A
NM_006218.4(PIK3CA):c.1426G>A (p.Glu476Lys)
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.1480G>C (p.Glu494Gln)
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.1540-1G>T rs2108407893
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.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.1600A>C (p.Ile534Leu)
NM_006218.4(PIK3CA):c.1618C>G (p.Leu540Val) rs2108408264
NM_006218.4(PIK3CA):c.1631C>G (p.Thr544Ser) rs2108408335
NM_006218.4(PIK3CA):c.1660C>T (p.His554Tyr) rs1576942444
NM_006218.4(PIK3CA):c.1664+3A>G rs769124869
NM_006218.4(PIK3CA):c.1664+6T>G
NM_006218.4(PIK3CA):c.1696C>T (p.Pro566Ser)
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.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.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.1880A>G (p.Lys627Arg)
NM_006218.4(PIK3CA):c.189A>C (p.Gln63His) rs772678298
NM_006218.4(PIK3CA):c.1949T>C (p.Val650Ala) rs1553823718
NM_006218.4(PIK3CA):c.1974G>C (p.Leu658Phe)
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+4A>C rs1060500026
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.2119G>A (p.Glu707Lys) rs3729687
NM_006218.4(PIK3CA):c.2144_2148del (p.Asn714_Leu715insTer)
NM_006218.4(PIK3CA):c.2164_2166del (p.Glu722del)
NM_006218.4(PIK3CA):c.2187+4T>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.2255T>C (p.Leu752Pro)
NM_006218.4(PIK3CA):c.2269C>T (p.Pro757Ser)
NM_006218.4(PIK3CA):c.2275C>T (p.His759Tyr)
NM_006218.4(PIK3CA):c.2287A>G (p.Asn763Asp)
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.2423G>A (p.Arg808Gln) rs780837825
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.2489A>T (p.Asp830Val)
NM_006218.4(PIK3CA):c.2513G>C (p.Cys838Ser) rs1725157266
NM_006218.4(PIK3CA):c.2558A>G (p.Asn853Ser) rs1725159134
NM_006218.4(PIK3CA):c.2595C>T (p.Gly865=) rs1725159820
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.2666+3G>A rs1576947706
NM_006218.4(PIK3CA):c.2667A>T (p.Ile889=) rs17849078
NM_006218.4(PIK3CA):c.2668T>G (p.Tyr890Asp)
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.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.2785C>T (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.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.2915C>T (p.Thr972Ile) rs1553825480
NM_006218.4(PIK3CA):c.2948T>A (p.Met983Lys)
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.29_53del (p.Leu10fs) rs1560137030
NM_006218.4(PIK3CA):c.3012G>T (p.Met1004Ile)
NM_006218.4(PIK3CA):c.301G>C (p.Val101Leu) rs1724342655
NM_006218.4(PIK3CA):c.3056T>C (p.Ile1019Thr) rs1725280610
NM_006218.4(PIK3CA):c.311C>G (p.Pro104Arg) rs863225060
NM_006218.4(PIK3CA):c.3126A>G (p.Gln1042=) rs1725282114
NM_006218.4(PIK3CA):c.3132T>A (p.Asn1044Lys) rs1576949960
NM_006218.4(PIK3CA):c.3139_3140delinsAT (p.His1047Ile) rs1725283257
NM_006218.4(PIK3CA):c.314T>C (p.Val105Ala)
NM_006218.4(PIK3CA):c.317G>T (p.Gly106Val) rs1057519930
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.3203A>T (p.Asn1068Ile) rs1725284914
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+6A>G
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.40C>T (p.His14Tyr) rs1576931874
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.481A>G (p.Ser161Gly)
NM_006218.4(PIK3CA):c.493T>C (p.Tyr165His)
NM_006218.4(PIK3CA):c.524C>T (p.Pro175Leu) rs1175225456
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.563-14T>A
NM_006218.4(PIK3CA):c.586G>A (p.Val196Ile) rs541134560
NM_006218.4(PIK3CA):c.586G>T (p.Val196Leu)
NM_006218.4(PIK3CA):c.596C>A (p.Ser199Tyr)
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.61C>A (p.Leu21Ile)
NM_006218.4(PIK3CA):c.649C>T (p.Pro217Ser)
NM_006218.4(PIK3CA):c.661A>G (p.Ile221Val) rs1724405654
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.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.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.851A>G (p.Asn284Ser)
NM_006218.4(PIK3CA):c.851dup (p.Asn284fs) rs1576934610
NM_006218.4(PIK3CA):c.863T>C (p.Met288Thr) rs2108392669
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.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
NM_006363.6(SEC23B):c.1027A>G (p.Asn343Asp)
NM_006363.6(SEC23B):c.1043A>G (p.Asp348Gly) rs2060144762
NM_006363.6(SEC23B):c.1054T>C (p.Cys352Arg)
NM_006363.6(SEC23B):c.1115A>G (p.Tyr372Cys)
NM_006363.6(SEC23B):c.1115A>T (p.Tyr372Phe)
NM_006363.6(SEC23B):c.1217C>T (p.Ala406Val)
NM_006363.6(SEC23B):c.1244A>G (p.Glu415Gly)
NM_006363.6(SEC23B):c.1415C>T (p.Pro472Leu) rs752548887
NM_006363.6(SEC23B):c.146C>T (p.Pro49Leu)
NM_006363.6(SEC23B):c.1490G>T (p.Arg497Leu)
NM_006363.6(SEC23B):c.1504G>A (p.Ala502Thr)
NM_006363.6(SEC23B):c.1555T>C (p.Phe519Leu)
NM_006363.6(SEC23B):c.1580T>C (p.Leu527Ser)
NM_006363.6(SEC23B):c.1637G>T (p.Arg546Leu)
NM_006363.6(SEC23B):c.164A>C (p.Gln55Pro)
NM_006363.6(SEC23B):c.1665+4A>G
NM_006363.6(SEC23B):c.1666-3T>C
NM_006363.6(SEC23B):c.1857C>G (p.Ile619Met)
NM_006363.6(SEC23B):c.2011A>G (p.Lys671Glu)
NM_006363.6(SEC23B):c.208C>T (p.Leu70Phe)
NM_006363.6(SEC23B):c.211A>C (p.Asn71His) rs2059977897
NM_006363.6(SEC23B):c.2242G>A (p.Asp748Asn) rs2122200225
NM_006363.6(SEC23B):c.2242G>C (p.Asp748His)
NM_006363.6(SEC23B):c.2294G>C (p.Ser765Thr)
NM_006363.6(SEC23B):c.251C>T (p.Ala84Val)
NM_006363.6(SEC23B):c.338A>C (p.Gln113Pro)
NM_006363.6(SEC23B):c.501C>G (p.Ile167Met)
NM_006363.6(SEC23B):c.546A>T (p.Gly182=) rs1347919581
NM_006363.6(SEC23B):c.5C>T (p.Ala2Val)
NM_006363.6(SEC23B):c.614G>C (p.Gly205Ala)
NM_006363.6(SEC23B):c.631A>G (p.Met211Val)
NM_006363.6(SEC23B):c.708C>A (p.His236Gln) rs748683327
NM_006363.6(SEC23B):c.712A>G (p.Ile238Val)
NM_006363.6(SEC23B):c.716A>G (p.Asp239Gly) rs761034212
NM_006363.6(SEC23B):c.757C>T (p.Pro253Ser)
NM_006363.6(SEC23B):c.820G>A (p.Val274Ile) rs747388303
NM_006363.6(SEC23B):c.853G>A (p.Gly285Arg)
NM_006363.6(SEC23B):c.985G>C (p.Ala329Pro)

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.