ClinVar Miner

List of variants reported as likely benign for Cowden disease

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1522
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HGVS dbSNP gnomAD frequency
NM_001126049.2(KLLN):c.-956G>T rs34149102 0.00683
NM_000314.8(PTEN):c.*1745G>A rs116248217 0.00644
NM_006218.4(PIK3CA):c.-138C>T rs149946088 0.00383
NM_006218.4(PIK3CA):c.1146-30G>A rs8192676 0.00308
NM_001126049.2(KLLN):c.-898G>A rs538728843 0.00262
NM_003000.3(SDHB):c.170A>G (p.His57Arg) rs35962811 0.00231
NM_006363.6(SEC23B):c.2298C>T (p.Ala766=) rs77945587 0.00228
NM_006363.6(SEC23B):c.1595G>C (p.Gly532Ala) rs143456757 0.00207
NM_000314.8(PTEN):c.254-34T>G rs34047313 0.00200
NM_000314.8(PTEN):c.209+84G>A rs185262832 0.00199
NM_006363.6(SEC23B):c.1317G>T (p.Glu439Asp) rs147410912 0.00176
NM_006363.6(SEC23B):c.993+10C>G rs201948587 0.00173
NM_000314.8(PTEN):c.132C>T (p.Gly44=) rs150651961 0.00168
NM_006218.4(PIK3CA):c.1665-44C>A rs141589697 0.00167
NM_000314.8(PTEN):c.1104T>C (p.Asp368=) rs35979531 0.00158
NM_000314.8(PTEN):c.801+23G>A rs116160352 0.00091
NM_006363.6(SEC23B):c.1198T>C (p.Phe400Leu) rs142461689 0.00084
NM_000314.8(PTEN):c.804C>A (p.Asp268Glu) rs398123328 0.00068
NM_001382430.1(AKT1):c.1032C>T (p.Cys344=) rs56289559 0.00063
NM_000314.8(PTEN):c.*421T>C rs141648241 0.00051
NM_006363.6(SEC23B):c.74C>A (p.Pro25His) rs6045440 0.00050
NM_006218.4(PIK3CA):c.1747-9C>T rs201779641 0.00046
NM_001382430.1(AKT1):c.138C>A (p.Asp46Glu) rs146875699 0.00045
NM_001382430.1(AKT1):c.1380T>C (p.Cys460=) rs139394285 0.00043
NM_006363.6(SEC23B):c.519G>A (p.Val173=) rs138314893 0.00040
NM_000314.8(PTEN):c.802-34C>A rs531071483 0.00039
NM_001126049.2(KLLN):c.-840G>A rs563841270 0.00036
NM_006218.4(PIK3CA):c.352+11A>G rs201605394 0.00033
NM_006218.4(PIK3CA):c.2015+9A>G rs200768351 0.00032
NM_006363.6(SEC23B):c.358G>A (p.Val120Met) rs372784283 0.00031
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584 0.00029
NM_006218.4(PIK3CA):c.1104T>C (p.Cys368=) rs202162121 0.00029
NM_006363.6(SEC23B):c.1335G>A (p.Thr445=) rs146587686 0.00028
NM_006363.6(SEC23B):c.280-6T>C rs370880370 0.00028
NM_001382430.1(AKT1):c.126G>A (p.Pro42=) rs375645311 0.00025
NM_006218.4(PIK3CA):c.1530C>T (p.His510=) rs200934230 0.00025
NM_006218.4(PIK3CA):c.2666+11T>G rs201113847 0.00024
NM_006363.6(SEC23B):c.2268C>T (p.Asp756=) rs530834583 0.00023
NM_006218.4(PIK3CA):c.1056T>C (p.Asp352=) rs1131681 0.00022
NM_006218.4(PIK3CA):c.2295-19G>C rs188003220 0.00021
NM_006363.6(SEC23B):c.279+18A>T rs769730409 0.00021
NM_001382430.1(AKT1):c.1227C>T (p.Ala409=) rs141303557 0.00019
NM_006218.4(PIK3CA):c.814-15C>G rs201682277 0.00019
NM_001382430.1(AKT1):c.783G>A (p.Leu261=) rs143933508 0.00017
NM_006363.6(SEC23B):c.1809A>G (p.Ser603=) rs139882548 0.00017
NM_000314.8(PTEN):c.234C>T (p.Thr78=) rs35917308 0.00016
NM_006363.6(SEC23B):c.1527G>A (p.Gln509=) rs201943863 0.00016
NM_000314.8(PTEN):c.802-12T>C rs587781129 0.00015
NM_001382430.1(AKT1):c.406G>A (p.Val136Met) rs778376616 0.00015
NM_000314.6(PTEN):c.-909T>C rs550385924 0.00013
NM_000314.8(PTEN):c.-734G>A rs786205432 0.00013
NM_001382430.1(AKT1):c.855C>T (p.Asp285=) rs149484260 0.00013
NM_000314.8(PTEN):c.1197A>G (p.Gln399=) rs374684043 0.00012
NM_006363.6(SEC23B):c.2031G>A (p.Met677Ile) rs202187007 0.00012
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000314.8(PTEN):c.254-39G>T rs35034871 0.00011
NM_001382430.1(AKT1):c.1416C>T (p.Phe472=) rs184263655 0.00011
NM_006218.4(PIK3CA):c.168C>T (p.Tyr56=) rs200868796 0.00011
NM_006218.4(PIK3CA):c.548A>G (p.Asn183Ser) rs767439253 0.00011
NM_006363.6(SEC23B):c.835-11C>T rs370797703 0.00011
NM_000314.8(PTEN):c.579G>A (p.Leu193=) rs568851024 0.00010
NM_000314.8(PTEN):c.802-54_802-16del rs1028746954 0.00010
NM_006218.4(PIK3CA):c.2103C>T (p.His701=) rs762364388 0.00010
NM_006218.4(PIK3CA):c.2514T>C (p.Cys838=) rs202175608 0.00010
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815 0.00009
NM_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_006218.4(PIK3CA):c.225A>G (p.Gln75=) rs202176973 0.00009
NM_006218.4(PIK3CA):c.3198A>G (p.Ala1066=) rs201911086 0.00009
NM_006363.6(SEC23B):c.434A>G (p.Gln145Arg) rs140466726 0.00009
NM_000314.8(PTEN):c.*601A>G rs371547288 0.00008
NM_001382430.1(AKT1):c.906C>T (p.Asp302=) rs746001369 0.00008
NM_006218.4(PIK3CA):c.1405-19C>A rs200583891 0.00008
NM_006218.4(PIK3CA):c.2936+8C>T rs372832719 0.00008
NM_006218.4(PIK3CA):c.2937-15T>C rs200829898 0.00008
NM_001382430.1(AKT1):c.46+19G>A rs769199033 0.00007
NM_006218.4(PIK3CA):c.1404+19T>G rs200001396 0.00007
NM_006363.6(SEC23B):c.1884C>T (p.Tyr628=) rs766473215 0.00007
NM_000314.8(PTEN):c.720C>T (p.Tyr240=) rs190070312 0.00006
NM_001382430.1(AKT1):c.1233C>T (p.Ile411=) rs375901448 0.00006
NM_001382430.1(AKT1):c.435+17C>T rs372112260 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_003002.4(SDHD):c.80G>A (p.Arg27Lys) rs200671534 0.00006
NM_006218.4(PIK3CA):c.529T>C (p.Leu177=) rs759712592 0.00006
NM_000314.8(PTEN):c.*5T>C rs1006891299 0.00005
NM_000314.8(PTEN):c.-837C>T rs786204940 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_000314.8(PTEN):c.612A>G (p.Pro204=) rs539074063 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.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.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.951C>A (p.Ala317=) rs17846831 0.00004
NM_006218.4(PIK3CA):c.1146-4A>G rs201538541 0.00004
NM_006218.4(PIK3CA):c.1263A>G (p.Pro421=) rs199927451 0.00004
NM_006218.4(PIK3CA):c.1747-8A>G rs1396807505 0.00004
NM_006218.4(PIK3CA):c.2040T>C (p.Val680=) rs201402676 0.00004
NM_006218.4(PIK3CA):c.2936+9G>A rs756341833 0.00004
NM_006363.6(SEC23B):c.1491C>T (p.Arg497=) rs778443189 0.00004
NM_000314.8(PTEN):c.-799G>C rs587779992 0.00003
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000314.8(PTEN):c.159A>G (p.Val53=) rs189583426 0.00003
NM_000314.8(PTEN):c.635-16G>A rs750772657 0.00003
NM_000314.8(PTEN):c.79+16G>C rs768604051 0.00003
NM_000314.8(PTEN):c.801+18A>T rs777679092 0.00003
NM_000314.8(PTEN):c.855A>G (p.Glu285=) rs751888926 0.00003
NM_001382430.1(AKT1):c.1053C>T (p.Asn351=) rs376942361 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.1364-10A>G rs755530413 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_003002.4(SDHD):c.170-19A>G rs1296685617 0.00003
NM_003002.4(SDHD):c.282C>T (p.Ser94=) rs781182616 0.00003
NM_003002.4(SDHD):c.315-14T>C rs1406470864 0.00003
NM_003002.4(SDHD):c.52+13C>G rs954474648 0.00003
NM_006218.4(PIK3CA):c.1599A>T (p.Ala533=) rs370901039 0.00003
NM_006218.4(PIK3CA):c.1743C>A (p.Ala581=) rs370692448 0.00003
NM_006218.4(PIK3CA):c.2013A>G (p.Leu671=) rs1060503813 0.00003
NM_006218.4(PIK3CA):c.2049G>A (p.Arg683=) rs775001064 0.00003
NM_006218.4(PIK3CA):c.2496A>G (p.Arg832=) rs201269713 0.00003
NM_000314.8(PTEN):c.-280C>T rs571072832 0.00002
NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly) rs587781273 0.00002
NM_000314.8(PTEN):c.1086A>G (p.Ser362=) rs761948873 0.00002
NM_000314.8(PTEN):c.209+10T>C rs770451470 0.00002
NM_000314.8(PTEN):c.261A>G (p.Gln87=) rs149772796 0.00002
NM_000314.8(PTEN):c.411A>G (p.Ala137=) rs144545031 0.00002
NM_000314.8(PTEN):c.456A>G (p.Leu152=) rs779626613 0.00002
NM_000314.8(PTEN):c.802-13T>C rs540097879 0.00002
NM_000314.8(PTEN):c.900C>T (p.Ile300=) rs550122918 0.00002
NM_001382430.1(AKT1):c.1260+15C>T rs774786647 0.00002
NM_001382430.1(AKT1):c.1437G>A (p.Thr479=) rs555187157 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.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.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_003002.4(SDHD):c.18G>A (p.Arg6=) rs200895313 0.00002
NM_003002.4(SDHD):c.228C>T (p.Leu76=) rs148634289 0.00002
NM_003002.4(SDHD):c.366A>G (p.Lys122=) rs780764151 0.00002
NM_003002.4(SDHD):c.435C>T (p.His145=) rs200062830 0.00002
NM_003002.4(SDHD):c.438T>C (p.Asp146=) rs201328474 0.00002
NM_003002.4(SDHD):c.52+8G>A rs370761122 0.00002
NM_006218.4(PIK3CA):c.1059+19G>A rs201940827 0.00002
NM_006218.4(PIK3CA):c.1540-13T>C rs202010325 0.00002
NM_006218.4(PIK3CA):c.1563T>C (p.Asn521=) rs756835265 0.00002
NM_006218.4(PIK3CA):c.1686C>T (p.Pro562=) rs201815216 0.00002
NM_006218.4(PIK3CA):c.1746+10T>C rs748414008 0.00002
NM_006218.4(PIK3CA):c.1767T>C (p.Asp589=) rs199540873 0.00002
NM_006218.4(PIK3CA):c.210C>T (p.Phe70=) rs760094170 0.00002
NM_006218.4(PIK3CA):c.228A>G (p.Glu76=) rs1360446174 0.00002
NM_006218.4(PIK3CA):c.2417-15T>C rs201818420 0.00002
NM_006218.4(PIK3CA):c.2418T>C (p.Asp806=) rs199693043 0.00002
NM_006218.4(PIK3CA):c.2445A>G (p.Gln815=) rs1400861611 0.00002
NM_006218.4(PIK3CA):c.2517G>A (p.Leu839=) rs753399946 0.00002
NM_006218.4(PIK3CA):c.2592C>T (p.Gly864=) rs780492649 0.00002
NM_006218.4(PIK3CA):c.2629C>T (p.Leu877=) rs747283707 0.00002
NM_006218.4(PIK3CA):c.3042A>G (p.Gln1014=) rs527991739 0.00002
NM_006218.4(PIK3CA):c.312A>G (p.Pro104=) rs1242038507 0.00002
NM_006218.4(PIK3CA):c.435C>T (p.Asn145=) rs1051404 0.00002
NM_006363.6(SEC23B):c.1512-10G>T rs770601333 0.00002
NM_006363.6(SEC23B):c.328T>C (p.Leu110=) rs368413002 0.00002
NM_000314.8(PTEN):c.1003C>A (p.Arg335=) rs121909231 0.00001
NM_000314.8(PTEN):c.1008C>T (p.Tyr336=) rs786201816 0.00001
NM_000314.8(PTEN):c.1027-8T>C rs776676859 0.00001
NM_000314.8(PTEN):c.1050A>G (p.Thr350=) rs769324650 0.00001
NM_000314.8(PTEN):c.1062G>A (p.Pro354=) rs786202751 0.00001
NM_000314.8(PTEN):c.114T>G (p.Pro38=) rs748040144 0.00001
NM_000314.8(PTEN):c.1203A>G (p.Thr401=) rs876659102 0.00001
NM_000314.8(PTEN):c.1209C>G (p.Val403=) rs1860740348 0.00001
NM_000314.8(PTEN):c.164+12T>C rs1057521654 0.00001
NM_000314.8(PTEN):c.165-9T>G rs878853934 0.00001
NM_000314.8(PTEN):c.204C>T (p.Tyr68=) rs773176120 0.00001
NM_000314.8(PTEN):c.210-12C>T rs766570103 0.00001
NM_000314.8(PTEN):c.210-17T>C rs750987148 0.00001
NM_000314.8(PTEN):c.210-17T>G rs750987148 0.00001
NM_000314.8(PTEN):c.210-26A>G rs776849737 0.00001
NM_000314.8(PTEN):c.210-9T>C rs751744545 0.00001
NM_000314.8(PTEN):c.253+14T>A rs1057520635 0.00001
NM_000314.8(PTEN):c.253+4G>A rs1060500112 0.00001
NM_000314.8(PTEN):c.254-17T>G rs1057520819 0.00001
NM_000314.8(PTEN):c.258A>G (p.Ala86=) rs587780710 0.00001
NM_000314.8(PTEN):c.288A>G (p.Pro96=) rs746661067 0.00001
NM_000314.8(PTEN):c.294A>G (p.Leu98=) rs770224289 0.00001
NM_000314.8(PTEN):c.321T>C (p.Asp107=) rs372876243 0.00001
NM_000314.8(PTEN):c.360A>C (p.Ala120=) rs759485888 0.00001
NM_000314.8(PTEN):c.441G>A (p.Lys147=) rs1564830394 0.00001
NM_000314.8(PTEN):c.480C>T (p.Thr160=) rs746574957 0.00001
NM_000314.8(PTEN):c.48T>C (p.Tyr16=) rs587782187 0.00001
NM_000314.8(PTEN):c.492+15G>T rs1380149618 0.00001
NM_000314.8(PTEN):c.492+31T>C rs1320105617 0.00001
NM_000314.8(PTEN):c.606T>C (p.Thr202=) rs1242879806 0.00001
NM_000314.8(PTEN):c.624C>T (p.Gly208=) rs370162160 0.00001
NM_000314.8(PTEN):c.635-14A>G rs758742080 0.00001
NM_000314.8(PTEN):c.635-8C>A rs780495238 0.00001
NM_000314.8(PTEN):c.693C>T (p.Pro231=) rs1064795327 0.00001
NM_000314.8(PTEN):c.711G>A (p.Lys237=) rs773353820 0.00001
NM_000314.8(PTEN):c.723T>C (p.Phe241=) rs17849090 0.00001
NM_000314.8(PTEN):c.72C>T (p.Asp24=) rs1320222638 0.00001
NM_000314.8(PTEN):c.732T>C (p.Pro244=) rs1425663292 0.00001
NM_000314.8(PTEN):c.738G>A (p.Pro246=) rs774364894 0.00001
NM_000314.8(PTEN):c.750T>C (p.Cys250=) rs767623493 0.00001
NM_000314.8(PTEN):c.75G>A (p.Leu25=) rs786201506 0.00001
NM_000314.8(PTEN):c.783G>A (p.Gln261=) rs760146269 0.00001
NM_000314.8(PTEN):c.78C>T (p.Thr26=) rs786201280 0.00001
NM_000314.8(PTEN):c.79+15G>T rs1269898602 0.00001
NM_000314.8(PTEN):c.79+7A>G rs374331677 0.00001
NM_000314.8(PTEN):c.80-11A>G rs776590293 0.00001
NM_000314.8(PTEN):c.80-14A>T rs768354874 0.00001
NM_000314.8(PTEN):c.801+14T>C rs1459692246 0.00001
NM_000314.8(PTEN):c.801+19T>C rs780407190 0.00001
NM_000314.8(PTEN):c.801+8C>G rs1057517630 0.00001
NM_000314.8(PTEN):c.802-17T>C rs1057520419 0.00001
NM_000314.8(PTEN):c.802-4T>C rs753469080 0.00001
NM_000314.8(PTEN):c.858C>G (p.Thr286=) rs876660443 0.00001
NM_000314.8(PTEN):c.885A>G (p.Leu295=) rs587780713 0.00001
NM_000314.8(PTEN):c.93C>T (p.Asn31=) rs1170214930 0.00001
NM_000314.8(PTEN):c.948A>G (p.Leu316=) rs775997892 0.00001
NM_000314.8(PTEN):c.981A>G (p.Lys327=) rs772872626 0.00001
NM_001382430.1(AKT1):c.1011G>A (p.Val337=) rs1043166019 0.00001
NM_001382430.1(AKT1):c.1080C>T (p.Leu360=) rs1566816352 0.00001
NM_001382430.1(AKT1):c.1104C>T (p.Phe368=) rs1595241867 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+9C>T rs529348439 0.00001
NM_001382430.1(AKT1):c.1173-6C>G rs1036107517 0.00001
NM_001382430.1(AKT1):c.1206C>T (p.Ile402=) rs748654766 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.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.1363+9C>T rs926451222 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.252C>T (p.Ile84=) rs1027097620 0.00001
NM_001382430.1(AKT1):c.267T>C (p.His89=) rs142646145 0.00001
NM_001382430.1(AKT1):c.294G>A (p.Glu98=) rs766755485 0.00001
NM_001382430.1(AKT1):c.387A>G (p.Ser129=) rs747700076 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.525C>T (p.Tyr175=) rs774828129 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.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.810G>A (p.Val270=) rs2230508 0.00001
NM_001382430.1(AKT1):c.876C>T (p.Asp292=) rs761942512 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
NM_003002.4(SDHD):c.141G>A (p.Gln47=) rs1217254088 0.00001
NM_003002.4(SDHD):c.159G>A (p.Pro53=) rs201368675 0.00001
NM_003002.4(SDHD):c.170-12T>C rs764191089 0.00001
NM_003002.4(SDHD):c.170-18A>C rs1402144794 0.00001
NM_003002.4(SDHD):c.170-6T>C rs753703004 0.00001
NM_003002.4(SDHD):c.21G>A (p.Leu7=) rs974401612 0.00001
NM_003002.4(SDHD):c.231G>C (p.Leu77=) rs1187106228 0.00001
NM_003002.4(SDHD):c.243G>C (p.Pro81=) rs575262156 0.00001
NM_003002.4(SDHD):c.264C>T (p.Cys88=) rs761615413 0.00001
NM_003002.4(SDHD):c.270G>A (p.Ala90=) rs766656463 0.00001
NM_003002.4(SDHD):c.297C>T (p.Leu99=) rs749657880 0.00001
NM_003002.4(SDHD):c.314+12A>G rs201163618 0.00001
NM_003002.4(SDHD):c.315-18T>G rs1260988180 0.00001
NM_003002.4(SDHD):c.327A>G (p.Gln109=) rs1566702383 0.00001
NM_003002.4(SDHD):c.33C>T (p.Cys11=) rs104894309 0.00001
NM_003002.4(SDHD):c.342T>C (p.Tyr114=) rs1050032491 0.00001
NM_003002.4(SDHD):c.405C>A (p.Thr135=) rs1555187606 0.00001
NM_003002.4(SDHD):c.52+19C>T rs1566690388 0.00001
NM_003002.4(SDHD):c.53-10C>G rs201350484 0.00001
NM_006218.4(PIK3CA):c.1029C>T (p.Tyr343=) rs375577477 0.00001
NM_006218.4(PIK3CA):c.1059+12T>A rs200627037 0.00001
NM_006218.4(PIK3CA):c.1060-9T>C rs750875731 0.00001
NM_006218.4(PIK3CA):c.1215C>T (p.Ser405=) rs199689419 0.00001
NM_006218.4(PIK3CA):c.1252-10G>A rs201600987 0.00001
NM_006218.4(PIK3CA):c.1305T>C (p.Thr435=) rs1060503812 0.00001
NM_006218.4(PIK3CA):c.1405-12T>C rs747847214 0.00001
NM_006218.4(PIK3CA):c.1449G>C (p.Val483=) rs202186428 0.00001
NM_006218.4(PIK3CA):c.1458C>T (p.Phe486=) rs201775914 0.00001
NM_006218.4(PIK3CA):c.1476T>A (p.Ile492=) rs557949672 0.00001
NM_006218.4(PIK3CA):c.1512A>T (p.Ala504=) rs201108344 0.00001
NM_006218.4(PIK3CA):c.1653A>G (p.Leu551=) rs201983420 0.00001
NM_006218.4(PIK3CA):c.171C>G (p.Pro57=) rs202038584 0.00001
NM_006218.4(PIK3CA):c.2115A>G (p.Gln705=) rs1253775694 0.00001
NM_006218.4(PIK3CA):c.2118C>T (p.Val706=) rs373861259 0.00001
NM_006218.4(PIK3CA):c.2188-7T>A rs765727782 0.00001
NM_006218.4(PIK3CA):c.2214A>G (p.Gln738=) rs751886212 0.00001
NM_006218.4(PIK3CA):c.2283A>G (p.Leu761=) rs1011706035 0.00001
NM_006218.4(PIK3CA):c.2295-15T>C rs751310116 0.00001
NM_006218.4(PIK3CA):c.2301A>G (p.Glu767=) rs769405239 0.00001
NM_006218.4(PIK3CA):c.2409T>C (p.Asn803=) rs1193928100 0.00001
NM_006218.4(PIK3CA):c.2495+15A>C rs775689452 0.00001
NM_006218.4(PIK3CA):c.2496-18G>A rs759447947 0.00001
NM_006218.4(PIK3CA):c.2496-19C>T rs774332931 0.00001
NM_006218.4(PIK3CA):c.2520A>T (p.Ser840=) rs1216933205 0.00001
NM_006218.4(PIK3CA):c.2523C>T (p.Ile841=) rs1285849390 0.00001
NM_006218.4(PIK3CA):c.2550G>A (p.Val850=) rs1253104649 0.00001
NM_006218.4(PIK3CA):c.2607A>T (p.Ala869=) rs1165547628 0.00001
NM_006218.4(PIK3CA):c.2649C>T (p.Asp883=) rs199826066 0.00001
NM_006218.4(PIK3CA):c.2724C>T (p.Thr908=) rs1197527173 0.00001
NM_006218.4(PIK3CA):c.2775C>T (p.Asp925=) rs769962451 0.00001
NM_006218.4(PIK3CA):c.2919G>A (p.Lys973=) rs369770518 0.00001
NM_006218.4(PIK3CA):c.291C>T (p.Pro97=) rs1051400 0.00001
NM_006218.4(PIK3CA):c.2937-17G>A rs199707417 0.00001
NM_006218.4(PIK3CA):c.339C>G (p.Leu113=) rs779052263 0.00001
NM_006218.4(PIK3CA):c.414C>T (p.Asp138=) rs199543283 0.00001
NM_006218.4(PIK3CA):c.562+15A>C rs777496847 0.00001
NM_006218.4(PIK3CA):c.562+20A>C rs749141814 0.00001
NM_006218.4(PIK3CA):c.564G>C (p.Gly188=) rs1724403579 0.00001
NM_006218.4(PIK3CA):c.814-20G>A rs202180110 0.00001
NM_006218.4(PIK3CA):c.814-4A>G rs761666391 0.00001
NM_006218.4(PIK3CA):c.814-9C>T rs753738741 0.00001
NM_006218.4(PIK3CA):c.825C>T (p.Ser275=) rs1724476990 0.00001
NM_006363.6(SEC23B):c.1062T>C (p.Leu354=) rs758029042 0.00001
NM_006363.6(SEC23B):c.1234-11A>G rs187699090 0.00001
NM_006363.6(SEC23B):c.123C>T (p.Leu41=) rs554409729 0.00001
NM_006363.6(SEC23B):c.1299G>A (p.Pro433=) rs767683935 0.00001
NM_006363.6(SEC23B):c.1380C>A (p.Gly460=) rs201656419 0.00001
NM_006363.6(SEC23B):c.1413C>T (p.Thr471=) rs900752773 0.00001
NM_006363.6(SEC23B):c.1569T>C (p.Ala523=) rs921580564 0.00001
NM_006363.6(SEC23B):c.1815C>T (p.Tyr605=) rs779351917 0.00001
NM_006363.6(SEC23B):c.1992+12T>C rs780986610 0.00001
NM_006363.6(SEC23B):c.711G>A (p.Lys237=) rs773579451 0.00001
NM_000314.8(PTEN):c.*1131del rs547262170
NM_000314.8(PTEN):c.*3448_*3463dup rs763859619
NM_000314.8(PTEN):c.*3449_*3463dup rs763859619
NM_000314.8(PTEN):c.*666dup rs543873570
NM_000314.8(PTEN):c.-14A>C rs755295390
NM_000314.8(PTEN):c.-500GGC[6] rs1237307954
NM_000314.8(PTEN):c.-534G>T rs886047385
NM_000314.8(PTEN):c.-675C>T rs876661258
NM_000314.8(PTEN):c.-735G>A rs886047384
NM_000314.8(PTEN):c.-802G>A rs876661166
NM_000314.8(PTEN):c.1005A>G (p.Arg335=) rs1303065649
NM_000314.8(PTEN):c.1005A>T (p.Arg335=) rs1303065649
NM_000314.8(PTEN):c.1011T>C (p.Phe337=) rs876659916
NM_000314.8(PTEN):c.1017A>G (p.Pro339=) rs1554825644
NM_000314.8(PTEN):c.1026+10A>G rs767777911
NM_000314.8(PTEN):c.1026+11_1026+15del rs1564568719
NM_000314.8(PTEN):c.1026+38dup rs767896771
NM_000314.8(PTEN):c.1026+7T>A rs1589666333
NM_000314.8(PTEN):c.1026+9A>C rs1554825657
NM_000314.8(PTEN):c.1027-12T>G rs1057521732
NM_000314.8(PTEN):c.1027-14T>C
NM_000314.8(PTEN):c.1027-17A>T rs1057520355
NM_000314.8(PTEN):c.1027-19T>C
NM_000314.8(PTEN):c.1027-4C>G rs587782788
NM_000314.8(PTEN):c.1027-6C>A rs1374474745
NM_000314.8(PTEN):c.1027-6C>T rs1374474745
NM_000314.8(PTEN):c.1027-7T>C rs2132289086
NM_000314.8(PTEN):c.1027-8_1027-5del
NM_000314.8(PTEN):c.1027-9T>C rs1156734821
NM_000314.8(PTEN):c.1029G>A (p.Val343=) rs1393550059
NM_000314.8(PTEN):c.102T>A (p.Ala34=) rs1472278114
NM_000314.8(PTEN):c.1035G>A (p.Leu345=) rs1564570289
NM_000314.8(PTEN):c.1038C>T (p.Tyr346=) rs2132289237
NM_000314.8(PTEN):c.1041C>T (p.Phe347=) rs1554826029
NM_000314.8(PTEN):c.1044A>G (p.Thr348=) rs747606399
NM_000314.8(PTEN):c.1071A>G (p.Pro357=)
NM_000314.8(PTEN):c.1074G>A (p.Glu358=) rs876659464
NM_000314.8(PTEN):c.1089T>C (p.Thr363=) rs864622690
NM_000314.8(PTEN):c.108A>G (p.Gly36=) rs985009599
NM_000314.8(PTEN):c.1092T>C (p.Ser364=) rs1355576298
NM_000314.8(PTEN):c.1092T>G (p.Ser364=) rs1355576298
NM_000314.8(PTEN):c.1098A>C (p.Thr366=) rs1554826045
NM_000314.8(PTEN):c.1101A>G (p.Pro367=) rs2132289693
NM_000314.8(PTEN):c.1107T>C (p.Val369=) rs1554826048
NM_000314.8(PTEN):c.1116T>C (p.Asn372=) rs1060503845
NM_000314.8(PTEN):c.1119A>G (p.Glu373=)
NM_000314.8(PTEN):c.1131T>C (p.Tyr377=) rs1345063638
NM_000314.8(PTEN):c.1134A>G (p.Arg378=) rs1554826056
NM_000314.8(PTEN):c.1137T>C (p.Tyr379=) rs1295420243
NM_000314.8(PTEN):c.1143C>T (p.Asp381=) rs2132290018
NM_000314.8(PTEN):c.1152C>T (p.Asp384=) rs2132290073
NM_000314.8(PTEN):c.1155T>C (p.Ser385=) rs1860738182
NM_000314.8(PTEN):c.1161A>G (p.Pro387=) rs1057523975
NM_000314.8(PTEN):c.1170A>G (p.Glu390=) rs1057524010
NM_000314.8(PTEN):c.1173T>C (p.Pro391=)
NM_000314.8(PTEN):c.117A>C (p.Ala39=) rs1223327870
NM_000314.8(PTEN):c.1188G>A (p.Gln396=) rs786202062
NM_000314.8(PTEN):c.1200T>A (p.Ile400=)
NM_000314.8(PTEN):c.129A>G (p.Glu43=) rs1453337737
NM_000314.8(PTEN):c.12C>T (p.Ile4=) rs2132145422
NM_000314.8(PTEN):c.132C>A (p.Gly44=) rs150651961
NM_000314.8(PTEN):c.135A>G (p.Val45=) rs959491852
NM_000314.8(PTEN):c.144C>T (p.Asn48=) rs762518389
NM_000314.8(PTEN):c.153T>C (p.Asp51=)
NM_000314.8(PTEN):c.156T>C (p.Asp52=) rs1589617385
NM_000314.8(PTEN):c.15C>T (p.Ile5=)
NM_000314.8(PTEN):c.162A>G (p.Val54=)
NM_000314.8(PTEN):c.164+10C>T rs1859100909
NM_000314.8(PTEN):c.164+20C>G rs2132187978
NM_000314.8(PTEN):c.164+9G>T
NM_000314.8(PTEN):c.165-11T>A
NM_000314.8(PTEN):c.165-14dup rs2132232028
NM_000314.8(PTEN):c.165-17G>A
NM_000314.8(PTEN):c.165-17G>C rs898943632
NM_000314.8(PTEN):c.165-17G>T rs898943632
NM_000314.8(PTEN):c.165-20T>C rs1859801133
NM_000314.8(PTEN):c.165-24TTTG[2] rs786204877
NM_000314.8(PTEN):c.165-5T>G
NM_000314.8(PTEN):c.165-7T>C rs572375431
NM_000314.8(PTEN):c.165-8G>A rs2132232059
NM_000314.8(PTEN):c.165-8_165-4del rs760571273
NM_000314.8(PTEN):c.174T>C (p.Asp58=) rs769719835
NM_000314.8(PTEN):c.177A>G (p.Ser59=) rs878853935
NM_000314.8(PTEN):c.180G>A (p.Lys60=) rs972166984
NM_000314.8(PTEN):c.189C>T (p.Asn63=) rs2132232254
NM_000314.8(PTEN):c.18A>G (p.Lys6=) rs876660391
NM_000314.8(PTEN):c.195C>T (p.Tyr65=) rs878853936
NM_000314.8(PTEN):c.201A>T (p.Ile67=) rs2132232357
NM_000314.8(PTEN):c.207T>C (p.Asn69=)
NM_000314.8(PTEN):c.209+12T>G
NM_000314.8(PTEN):c.209+15T>A
NM_000314.8(PTEN):c.209+15T>G
NM_000314.8(PTEN):c.209+3A>G rs786202612
NM_000314.8(PTEN):c.209+7A>G rs1554897284
NM_000314.8(PTEN):c.209+9G>A
NM_000314.8(PTEN):c.209+9_209+10delinsCC rs1060503841
NM_000314.8(PTEN):c.210-10T>C rs2132238629
NM_000314.8(PTEN):c.210-11T>A
NM_000314.8(PTEN):c.210-12C>A rs766570103
NM_000314.8(PTEN):c.210-13A>G rs2132238614
NM_000314.8(PTEN):c.210-17T>A rs750987148
NM_000314.8(PTEN):c.210-26A>T rs776849737
NM_000314.8(PTEN):c.210-3dup rs1064794464
NM_000314.8(PTEN):c.210-4T>C rs1589644668
NM_000314.8(PTEN):c.210-5T>C rs863224358
NM_000314.8(PTEN):c.210-6T>C rs1057521210
NM_000314.8(PTEN):c.210-7C>A
NM_000314.8(PTEN):c.210-7C>G
NM_000314.8(PTEN):c.210-7C>T
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.210-7_210-4del
NM_000314.8(PTEN):c.210-8T>C rs2132238637
NM_000314.8(PTEN):c.210-8T>G
NM_000314.8(PTEN):c.210-8dup
NM_000314.8(PTEN):c.216T>C (p.Ala72=) rs1057520862
NM_000314.8(PTEN):c.222A>G (p.Arg74=) rs781542973
NM_000314.8(PTEN):c.228T>C (p.Tyr76=) rs1554897866
NM_000314.8(PTEN):c.231C>T (p.Asp77=) rs755953294
NM_000314.8(PTEN):c.234C>A (p.Thr78=) rs35917308
NM_000314.8(PTEN):c.234C>G (p.Thr78=) rs35917308
NM_000314.8(PTEN):c.237C>G (p.Ala79=)
NM_000314.8(PTEN):c.237C>T (p.Ala79=)
NM_000314.8(PTEN):c.243T>C (p.Phe81=) rs2132238960
NM_000314.8(PTEN):c.246T>C (p.Asn82=) rs2132238982
NM_000314.8(PTEN):c.253+11A>C
NM_000314.8(PTEN):c.253+11A>T
NM_000314.8(PTEN):c.253+17T>G rs2132239104
NM_000314.8(PTEN):c.253+18G>A
NM_000314.8(PTEN):c.253+20_253+24dup
NM_000314.8(PTEN):c.253+20_253+25del
NM_000314.8(PTEN):c.253+20_253+26del rs1554897894
NM_000314.8(PTEN):c.253+4_253+7del rs876659695
NM_000314.8(PTEN):c.253+7A>G rs2132239067
NM_000314.8(PTEN):c.253+9G>A
NM_000314.8(PTEN):c.254-10T>C rs1554898047
NM_000314.8(PTEN):c.254-11T>C rs2132241916
NM_000314.8(PTEN):c.254-12T>G rs2132241908
NM_000314.8(PTEN):c.254-15A>G
NM_000314.8(PTEN):c.254-20A>C
NM_000314.8(PTEN):c.254-3_254-2del rs1064794169
NM_000314.8(PTEN):c.254-40A>G rs767049245
NM_000314.8(PTEN):c.254-4A>G
NM_000314.8(PTEN):c.254-5C>T rs1589645935
NM_000314.8(PTEN):c.254-6C>T rs1057520525
NM_000314.8(PTEN):c.254-7A>G rs2132241925
NM_000314.8(PTEN):c.254-7dup rs1060503846
NM_000314.8(PTEN):c.264T>C (p.Tyr88=) rs1554898056
NM_000314.8(PTEN):c.273A>G (p.Glu91=) rs1589646019
NM_000314.8(PTEN):c.279T>C (p.His93=) rs145695240
NM_000314.8(PTEN):c.282C>T (p.Asn94=) rs1589646058
NM_000314.8(PTEN):c.291G>A (p.Gln97=) rs1564829889
NM_000314.8(PTEN):c.303C>T (p.Ile101=) rs1859968521
NM_000314.8(PTEN):c.309C>G (p.Pro103=) rs2132242458
NM_000314.8(PTEN):c.30C>T (p.Ser10=)
NM_000314.8(PTEN):c.31A>C (p.Arg11=) rs1858395868
NM_000314.8(PTEN):c.327C>T (p.Asp109=)
NM_000314.8(PTEN):c.330A>G (p.Gln110=) rs786201929
NM_000314.8(PTEN):c.342A>G (p.Glu114=) rs1589646244
NM_000314.8(PTEN):c.348C>T (p.Asp116=) rs1114167651
NM_000314.8(PTEN):c.351T>C (p.Asn117=) rs2132242870
NM_000314.8(PTEN):c.354T>C (p.His118=) rs1564830090
NM_000314.8(PTEN):c.357T>G (p.Val119=) rs1554898115
NM_000314.8(PTEN):c.360A>G (p.Ala120=) rs759485888
NM_000314.8(PTEN):c.369C>T (p.His123=) rs1085308045
NM_000314.8(PTEN):c.381A>C (p.Gly127=) rs1357327961
NM_000314.8(PTEN):c.384G>A (p.Lys128=) rs1114167645
NM_000314.8(PTEN):c.387A>G (p.Gly129=) rs2132243217
NM_000314.8(PTEN):c.390A>T (p.Arg130=) rs963598711
NM_000314.8(PTEN):c.396T>C (p.Gly132=) rs1564830257
NM_000314.8(PTEN):c.39A>G (p.Lys13=) rs2132145687
NM_000314.8(PTEN):c.408T>C (p.Cys136=) rs869312776
NM_000314.8(PTEN):c.414T>C (p.Tyr138=)
NM_000314.8(PTEN):c.417A>G (p.Leu139=) rs1057520407
NM_000314.8(PTEN):c.420A>G (p.Leu140=) rs2132243531
NM_000314.8(PTEN):c.423T>C (p.His141=) rs1459569607
NM_000314.8(PTEN):c.426G>A (p.Arg142=) rs878853939
NM_000314.8(PTEN):c.426G>C (p.Arg142=) rs878853939
NM_000314.8(PTEN):c.429C>T (p.Gly143=) rs1589646539
NM_000314.8(PTEN):c.42G>A (p.Arg14=) rs1064794513
NM_000314.8(PTEN):c.432A>G (p.Lys144=) rs2132243670
NM_000314.8(PTEN):c.438A>G (p.Leu146=)
NM_000314.8(PTEN):c.444A>C (p.Ala148=) rs778663292
NM_000314.8(PTEN):c.444A>T (p.Ala148=) rs778663292
NM_000314.8(PTEN):c.447A>G (p.Gln149=) rs750401982
NM_000314.8(PTEN):c.450G>A (p.Glu150=) rs757777398
NM_000314.8(PTEN):c.453C>T (p.Ala151=) rs2132243850
NM_000314.8(PTEN):c.454C>T (p.Leu152=) rs1064795450
NM_000314.8(PTEN):c.456A>C (p.Leu152=) rs779626613
NM_000314.8(PTEN):c.45A>G (p.Arg15=) rs1064794096
NM_000314.8(PTEN):c.468G>A (p.Gly156=)
NM_000314.8(PTEN):c.481A>C (p.Arg161=)
NM_000314.8(PTEN):c.483A>G (p.Arg161=) rs2132244098
NM_000314.8(PTEN):c.492+14T>A rs1057523132
NM_000314.8(PTEN):c.492+14T>C rs1057523132
NM_000314.8(PTEN):c.492+7T>C rs373077590
NM_000314.8(PTEN):c.492+7T>G rs373077590
NM_000314.8(PTEN):c.492+8A>G rs1859985473
NM_000314.8(PTEN):c.492+9T>A rs2132244235
NM_000314.8(PTEN):c.492+9T>C rs2132244235
NM_000314.8(PTEN):c.493-10T>G
NM_000314.8(PTEN):c.493-12dup rs756623620
NM_000314.8(PTEN):c.493-13T>C rs1554900488
NM_000314.8(PTEN):c.493-14T>C rs1564837710
NM_000314.8(PTEN):c.493-15T>C
NM_000314.8(PTEN):c.493-18T>C
NM_000314.8(PTEN):c.493-19T>C rs1554900486
NM_000314.8(PTEN):c.493-27G>T rs1589659262
NM_000314.8(PTEN):c.493-4C>T rs1057522555
NM_000314.8(PTEN):c.493-6C>T rs1554900496
NM_000314.8(PTEN):c.493-7C>G
NM_000314.8(PTEN):c.493-7C>T rs1554900492
NM_000314.8(PTEN):c.493-8T>C
NM_000314.8(PTEN):c.493-9G>A rs1554900490
NM_000314.8(PTEN):c.493-9G>T rs1554900490
NM_000314.8(PTEN):c.501T>C (p.Thr167=) rs2132268947
NM_000314.8(PTEN):c.504T>A (p.Ile168=) rs1589659338
NM_000314.8(PTEN):c.513G>A (p.Gln171=) rs1554900546
NM_000314.8(PTEN):c.516G>A (p.Arg172=)
NM_000314.8(PTEN):c.519C>T (p.Arg173=)
NM_000314.8(PTEN):c.522T>C (p.Tyr174=) rs786201867
NM_000314.8(PTEN):c.525G>C (p.Val175=) rs1554900563
NM_000314.8(PTEN):c.525G>T (p.Val175=)
NM_000314.8(PTEN):c.528T>C (p.Tyr176=) rs1057522285
NM_000314.8(PTEN):c.534T>C (p.Tyr178=) rs104894184
NM_000314.8(PTEN):c.537C>T (p.Ser179=)
NM_000314.8(PTEN):c.543G>C (p.Leu181=) rs1589659495
NM_000314.8(PTEN):c.549G>A (p.Lys183=)
NM_000314.8(PTEN):c.54G>A (p.Glu18=) rs1554890388
NM_000314.8(PTEN):c.555T>C (p.His185=) rs757799618
NM_000314.8(PTEN):c.556C>T (p.Leu186=) rs1589659546
NM_000314.8(PTEN):c.564T>C (p.Tyr188=) rs606231170
NM_000314.8(PTEN):c.567A>G (p.Arg189=) rs1589659570
NM_000314.8(PTEN):c.573G>A (p.Val191=) rs374478092
NM_000314.8(PTEN):c.576A>G (p.Ala192=) rs1554900619
NM_000314.8(PTEN):c.577C>T (p.Leu193=) rs772631069
NM_000314.8(PTEN):c.579G>T (p.Leu193=) rs568851024
NM_000314.8(PTEN):c.57T>C (p.Asp19=) rs540063602
NM_000314.8(PTEN):c.585T>C (p.Phe195=) rs1554900624
NM_000314.8(PTEN):c.588C>T (p.His196=) rs1860423218
NM_000314.8(PTEN):c.60A>G (p.Gly20=)
NM_000314.8(PTEN):c.612A>C (p.Pro204=) rs539074063
NM_000314.8(PTEN):c.618C>T (p.Phe206=) rs786202773
NM_000314.8(PTEN):c.630T>A (p.Thr210=)
NM_000314.8(PTEN):c.634+11G>C
NM_000314.8(PTEN):c.634+13A>T rs2132270168
NM_000314.8(PTEN):c.634+14A>T rs762694325
NM_000314.8(PTEN):c.634+14del rs2132270165
NM_000314.8(PTEN):c.634+18T>G
NM_000314.8(PTEN):c.634+19C>T rs766397244
NM_000314.8(PTEN):c.634+20A>G rs2132270192
NM_000314.8(PTEN):c.634+7G>C rs1860427142
NM_000314.8(PTEN):c.634+9T>C rs1589659798
NM_000314.8(PTEN):c.635-10A>G rs1430432370
NM_000314.8(PTEN):c.635-11T>G rs2132276315
NM_000314.8(PTEN):c.635-18A>G rs1057520441
NM_000314.8(PTEN):c.635-20G>A rs1317974446
NM_000314.8(PTEN):c.635-20G>T
NM_000314.8(PTEN):c.635-4G>A
NM_000314.8(PTEN):c.635-5T>C
NM_000314.8(PTEN):c.635-6A>G rs1009588340
NM_000314.8(PTEN):c.635-7C>A rs1554825148
NM_000314.8(PTEN):c.635-7C>T rs1554825148
NM_000314.8(PTEN):c.636T>C (p.Asn212=) rs2132276380
NM_000314.8(PTEN):c.63C>T (p.Phe21=) rs1858399493
NM_000314.8(PTEN):c.642G>A (p.Gln214=) rs1589663143
NM_000314.8(PTEN):c.651C>T (p.Val217=) rs886038278
NM_000314.8(PTEN):c.658C>T (p.Leu220=)
NM_000314.8(PTEN):c.660A>C (p.Leu220=) rs1352585442
NM_000314.8(PTEN):c.66C>T (p.Asp22=) rs786201335
NM_000314.8(PTEN):c.672A>T (p.Ile224=)
NM_000314.8(PTEN):c.678C>G (p.Ser226=) rs1589663262
NM_000314.8(PTEN):c.681C>T (p.Ser227=) rs768662424
NM_000314.8(PTEN):c.684T>C (p.Asn228=) rs2132276789
NM_000314.8(PTEN):c.687A>G (p.Ser229=) rs1554825185
NM_000314.8(PTEN):c.693C>A (p.Pro231=)
NM_000314.8(PTEN):c.697C>A (p.Arg233=) rs121909219
NM_000314.8(PTEN):c.699A>G (p.Arg233=) rs1589663321
NM_000314.8(PTEN):c.6A>C (p.Thr2=) rs1168115184
NM_000314.8(PTEN):c.6A>G (p.Thr2=)
NM_000314.8(PTEN):c.708C>T (p.Asp236=) rs1183182915
NM_000314.8(PTEN):c.714C>T (p.Phe238=) rs2132277083
NM_000314.8(PTEN):c.729C>T (p.Phe243=)
NM_000314.8(PTEN):c.741A>G (p.Leu247=) rs1554825217
NM_000314.8(PTEN):c.744T>C (p.Pro248=) rs1589663469
NM_000314.8(PTEN):c.747G>A (p.Val249=) rs1060503840
NM_000314.8(PTEN):c.753T>A (p.Gly251=) rs1554825232
NM_000314.8(PTEN):c.756T>C (p.Asp252=) rs2132277479
NM_000314.8(PTEN):c.759C>A (p.Ile253=) rs752250585
NM_000314.8(PTEN):c.759C>T (p.Ile253=) rs752250585
NM_000314.8(PTEN):c.765A>G (p.Val255=) rs1589663555
NM_000314.8(PTEN):c.774C>T (p.Phe258=) rs1554825246
NM_000314.8(PTEN):c.777C>T (p.His259=) rs2132277664
NM_000314.8(PTEN):c.780A>G (p.Lys260=) rs876658720
NM_000314.8(PTEN):c.786C>T (p.Asn262=) rs2132277734
NM_000314.8(PTEN):c.79+11C>T rs1564801923
NM_000314.8(PTEN):c.79+14C>T rs760610000
NM_000314.8(PTEN):c.79+15G>A
NM_000314.8(PTEN):c.79+15G>C rs1269898602
NM_000314.8(PTEN):c.79+18T>A
NM_000314.8(PTEN):c.79+18T>C
NM_000314.8(PTEN):c.79+19G>C
NM_000314.8(PTEN):c.79+23_79+25del rs1221062997
NM_000314.8(PTEN):c.79+7A>T rs374331677
NM_000314.8(PTEN):c.79+9T>A rs2132146167
NM_000314.8(PTEN):c.795A>C (p.Leu265=) rs891648600
NM_000314.8(PTEN):c.80-10A>T rs2132186986
NM_000314.8(PTEN):c.80-10_80-6del rs1589617099
NM_000314.8(PTEN):c.80-15A>G rs2132186952
NM_000314.8(PTEN):c.80-16T>G rs2132186949
NM_000314.8(PTEN):c.80-17T>G rs557842695
NM_000314.8(PTEN):c.80-23_85del rs1589617079
NM_000314.8(PTEN):c.80-4T>C rs2132187028
NM_000314.8(PTEN):c.80-5C>T rs1060503842
NM_000314.8(PTEN):c.80-6A>G rs1554893744
NM_000314.8(PTEN):c.80-8del rs1060503844
NM_000314.8(PTEN):c.801+11T>C
NM_000314.8(PTEN):c.801+11_801+16del
NM_000314.8(PTEN):c.801+11dup rs2132277897
NM_000314.8(PTEN):c.801+12_801+16del rs2132277881
NM_000314.8(PTEN):c.801+13C>T
NM_000314.8(PTEN):c.801+15T>C rs1057520830
NM_000314.8(PTEN):c.801+16T>C rs2132277921
NM_000314.8(PTEN):c.801+20T>C
NM_000314.8(PTEN):c.801+20T>G
NM_000314.8(PTEN):c.801+7A>T rs1211730867
NM_000314.8(PTEN):c.801+9T>C rs1060503839
NM_000314.8(PTEN):c.802-10T>C rs1270511778
NM_000314.8(PTEN):c.802-11_802-3del rs34003473
NM_000314.8(PTEN):c.802-2dup rs1554825500
NM_000314.8(PTEN):c.802-4_802-3dup rs34003473
NM_000314.8(PTEN):c.802-4_802-3insG
NM_000314.8(PTEN):c.802-5_802-3dup rs34003473
NM_000314.8(PTEN):c.802-5_802-4insC
NM_000314.8(PTEN):c.802-6T>G rs1057522284
NM_000314.8(PTEN):c.802-7T>G rs2132281639
NM_000314.8(PTEN):c.802-7_802-6insC rs2132281643
NM_000314.8(PTEN):c.802-8_802-7insC
NM_000314.8(PTEN):c.802-9T>G rs1057520354
NM_000314.8(PTEN):c.816C>T (p.His272=) rs876659761
NM_000314.8(PTEN):c.819T>C (p.Phe273=) rs876658729
NM_000314.8(PTEN):c.828T>C (p.Asn276=) rs1554825510
NM_000314.8(PTEN):c.831A>G (p.Thr277=) rs376886779
NM_000314.8(PTEN):c.834C>T (p.Phe278=) rs867171992
NM_000314.8(PTEN):c.837C>T (p.Phe279=) rs2132281941
NM_000314.8(PTEN):c.838A>G (p.Ile280Val) rs1474354667
NM_000314.8(PTEN):c.843A>G (p.Pro281=) rs1554825518
NM_000314.8(PTEN):c.852G>A (p.Glu284=) rs1860620187
NM_000314.8(PTEN):c.858C>T (p.Thr286=) rs876660443
NM_000314.8(PTEN):c.861A>G (p.Ser287=) rs1564568288
NM_000314.8(PTEN):c.867A>G (p.Lys289=) rs2132282206
NM_000314.8(PTEN):c.870A>C (p.Val290=) rs529155918
NM_000314.8(PTEN):c.870A>G (p.Val290=) rs529155918
NM_000314.8(PTEN):c.876T>C (p.Asn292=) rs864622098
NM_000314.8(PTEN):c.879A>C (p.Gly293=) rs1060503843
NM_000314.8(PTEN):c.879A>G (p.Gly293=) rs1060503843
NM_000314.8(PTEN):c.87T>C (p.Tyr29=) rs1554893756
NM_000314.8(PTEN):c.882T>C (p.Ser294=) rs143335584
NM_000314.8(PTEN):c.883C>T (p.Leu295=) rs756152824
NM_000314.8(PTEN):c.885A>C (p.Leu295=) rs587780713
NM_000314.8(PTEN):c.885A>T (p.Leu295=)
NM_000314.8(PTEN):c.894A>G (p.Gln298=)
NM_000314.8(PTEN):c.900C>A (p.Ile300=) rs550122918
NM_000314.8(PTEN):c.903T>C (p.Asp301=) rs2132282573
NM_000314.8(PTEN):c.909T>A (p.Ile303=) rs878853945
NM_000314.8(PTEN):c.912C>T (p.Cys304=) rs2132282639
NM_000314.8(PTEN):c.921G>A (p.Glu307=) rs1860626419
NM_000314.8(PTEN):c.927A>G (p.Ala309=)
NM_000314.8(PTEN):c.933T>C (p.Asn311=) rs2132282863
NM_000314.8(PTEN):c.939G>A (p.Lys313=) rs562164491
NM_000314.8(PTEN):c.942A>G (p.Glu314=) rs1589666037
NM_000314.8(PTEN):c.946C>T (p.Leu316=) rs1554825577
NM_000314.8(PTEN):c.957T>C (p.Thr319=) rs2132283142
NM_000314.8(PTEN):c.966A>G (p.Lys322=) rs786201392
NM_000314.8(PTEN):c.96T>C (p.Ile32=)
NM_000314.8(PTEN):c.975T>C (p.Leu325=)
NM_000314.8(PTEN):c.984A>C (p.Ala328=)
NM_000314.8(PTEN):c.984A>G (p.Ala328=) rs2132283374
NM_000314.8(PTEN):c.993C>T (p.Asp331=) rs2132283468
NM_000314.8(PTEN):c.999C>T (p.Ala333=) rs2132283524
NM_000314.8(PTEN):c.9C>T (p.Ala3=) rs1554890328
NM_001126049.2(KLLN):c.-1007C>G rs587780001
NM_001126049.2(KLLN):c.-1007C>T rs587780001
NM_001126049.2(KLLN):c.-794_-783del rs587781340
NM_001126049.2(KLLN):c.-812G>A rs587779981
NM_001126049.2(KLLN):c.-955G>T rs587781128
NM_001382430.1(AKT1):c.1008C>T (p.Gly336=) rs1489572550
NM_001382430.1(AKT1):c.1038C>T (p.Arg346=) rs1060504819
NM_001382430.1(AKT1):c.1039C>T (p.Leu347=)
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.1107G>C (p.Pro369=) rs150399268
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.1119T>A (p.Gly373=) rs2140900738
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.1161C>T (p.Asp387=) rs1309319250
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.1176T>C (p.Leu392=) rs1049525123
NM_001382430.1(AKT1):c.1188C>T (p.Ser396=) rs911689817
NM_001382430.1(AKT1):c.1248G>A (p.Val416=) rs1595241057
NM_001382430.1(AKT1):c.1260+19T>C
NM_001382430.1(AKT1):c.1260+7C>G
NM_001382430.1(AKT1):c.1261-8C>T
NM_001382430.1(AKT1):c.126G>T (p.Pro42=)
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.129G>A (p.Gln43=) rs2140949061
NM_001382430.1(AKT1):c.1305C>T (p.Thr435=)
NM_001382430.1(AKT1):c.1311T>C (p.Tyr437=)
NM_001382430.1(AKT1):c.1323G>A (p.Glu441=)
NM_001382430.1(AKT1):c.1341C>A (p.Ile447=) rs1060504820
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.1364-9C>T
NM_001382430.1(AKT1):c.1383G>A (p.Val461=) rs763831402
NM_001382430.1(AKT1):c.1386C>T (p.Asp462=)
NM_001382430.1(AKT1):c.1395C>G (p.Arg465=)
NM_001382430.1(AKT1):c.1419C>G (p.Ser473=) rs1221539515
NM_001382430.1(AKT1):c.141A>G (p.Gln47=)
NM_001382430.1(AKT1):c.1425G>A (p.Ser475=)
NM_001382430.1(AKT1):c.1437G>T (p.Thr479=) rs555187157
NM_001382430.1(AKT1):c.153C>T (p.Pro51=)
NM_001382430.1(AKT1):c.165C>T (p.Phe55=) rs1892948975
NM_001382430.1(AKT1):c.171G>A (p.Val57=)
NM_001382430.1(AKT1):c.175+16G>C rs2140948331
NM_001382430.1(AKT1):c.176-16C>T
NM_001382430.1(AKT1):c.176-19A>G
NM_001382430.1(AKT1):c.176-5C>T rs377076374
NM_001382430.1(AKT1):c.176-7C>T
NM_001382430.1(AKT1):c.186G>A (p.Leu62=)
NM_001382430.1(AKT1):c.195G>C (p.Thr65=)
NM_001382430.1(AKT1):c.222C>T (p.Ile74=) rs2140930465
NM_001382430.1(AKT1):c.27G>A (p.Glu9=)
NM_001382430.1(AKT1):c.285G>A (p.Glu95=)
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.288-20C>T
NM_001382430.1(AKT1):c.288-4G>T rs778501455
NM_001382430.1(AKT1):c.288-7_288-5del rs1206923979
NM_001382430.1(AKT1):c.309C>T (p.Ile103=) rs2140922911
NM_001382430.1(AKT1):c.318G>C (p.Val106=) rs761930839
NM_001382430.1(AKT1):c.333G>A (p.Lys111=)
NM_001382430.1(AKT1):c.348G>A (p.Glu116=) rs1595245735
NM_001382430.1(AKT1):c.351G>A (p.Glu117=) rs1268659696
NM_001382430.1(AKT1):c.357C>T (p.Asp119=) rs934041027
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.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.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.47-8G>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.552A>G (p.Glu184=) rs1422104904
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.612C>T (p.Asn204=) rs1044733473
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.669C>G (p.Leu223=) rs376531915
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.747G>T (p.Arg249=) rs2140907069
NM_001382430.1(AKT1):c.750C>G (p.Ala250=) rs1892522821
NM_001382430.1(AKT1):c.756C>T (p.Phe252=)
NM_001382430.1(AKT1):c.765T>A (p.Ala255=)
NM_001382430.1(AKT1):c.765T>C (p.Ala255=)
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+7del rs1555383494
NM_001382430.1(AKT1):c.828+9G>A
NM_001382430.1(AKT1):c.829-4C>G
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.927T>C (p.Phe309=) rs1566816545
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.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.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.99C>T (p.Gly33=)
NM_003002.4(SDHD):c.112C>A (p.Arg38=)
NM_003002.4(SDHD):c.114A>G (p.Arg38=) rs1555186794
NM_003002.4(SDHD):c.123A>C (p.Pro41=)
NM_003002.4(SDHD):c.126A>G (p.Glu42=) rs2135267333
NM_003002.4(SDHD):c.12C>T (p.Leu4=) rs2135264636
NM_003002.4(SDHD):c.138G>A (p.Val46=) rs2135267384
NM_003002.4(SDHD):c.150C>T (p.His50=)
NM_003002.4(SDHD):c.165C>T (p.His55=) rs1592779061
NM_003002.4(SDHD):c.169+11T>C
NM_003002.4(SDHD):c.169+16C>T
NM_003002.4(SDHD):c.169+20G>T
NM_003002.4(SDHD):c.169+7TC[2]
NM_003002.4(SDHD):c.169+8C>T rs1592779083
NM_003002.4(SDHD):c.170-10C>A
NM_003002.4(SDHD):c.170-10C>T rs952278127
NM_003002.4(SDHD):c.170-11C>T rs2135269102
NM_003002.4(SDHD):c.170-13G>A rs1447202823
NM_003002.4(SDHD):c.170-14G>C rs919536825
NM_003002.4(SDHD):c.170-18del rs766754598
NM_003002.4(SDHD):c.170-20G>A rs2135269091
NM_003002.4(SDHD):c.170-20G>C
NM_003002.4(SDHD):c.170-20G>T rs2135269091
NM_003002.4(SDHD):c.170-8T>A rs2135269114
NM_003002.4(SDHD):c.170-9T>C rs1592780269
NM_003002.4(SDHD):c.171T>C (p.Ser57=) rs2135269133
NM_003002.4(SDHD):c.177C>T (p.Ser59=) rs764869982
NM_003002.4(SDHD):c.183T>C (p.Ala61=) rs2135269188
NM_003002.4(SDHD):c.186A>T (p.Ala62=) rs11547899
NM_003002.4(SDHD):c.189T>C (p.Ser63=)
NM_003002.4(SDHD):c.192C>A (p.Leu64=)
NM_003002.4(SDHD):c.192C>G (p.Leu64=) rs1592780337
NM_003002.4(SDHD):c.195C>T (p.His65=) rs11547893
NM_003002.4(SDHD):c.19C>T (p.Leu7=) rs1337542194
NM_003002.4(SDHD):c.201T>C (p.Thr67=) rs2135269268
NM_003002.4(SDHD):c.207G>A (p.Glu69=) rs1592780392
NM_003002.4(SDHD):c.213T>G (p.Val71=)
NM_003002.4(SDHD):c.216C>G (p.Val72=) rs1592780438
NM_003002.4(SDHD):c.216C>T (p.Val72=)
NM_003002.4(SDHD):c.219T>C (p.Ser73=) rs2135269373
NM_003002.4(SDHD):c.21G>T (p.Leu7=)
NM_003002.4(SDHD):c.223T>C (p.Leu75=) rs2135269384
NM_003002.4(SDHD):c.246T>A (p.Ala82=)
NM_003002.4(SDHD):c.246T>C (p.Ala82=) rs2135269508
NM_003002.4(SDHD):c.246T>G (p.Ala82=)
NM_003002.4(SDHD):c.261T>C (p.Pro87=)
NM_003002.4(SDHD):c.269C>A (p.Ala90Glu) rs200255724
NM_003002.4(SDHD):c.269C>T (p.Ala90Val) rs200255724
NM_003002.4(SDHD):c.270G>C (p.Ala90=) rs766656463
NM_003002.4(SDHD):c.270G>T (p.Ala90=) rs766656463
NM_003002.4(SDHD):c.276C>T (p.Asp92=) rs2135269643
NM_003002.4(SDHD):c.27C>A (p.Ala9=) rs1555186670
NM_003002.4(SDHD):c.27C>G (p.Ala9=)
NM_003002.4(SDHD):c.27C>T (p.Ala9=) rs1555186670
NM_003002.4(SDHD):c.282C>G (p.Ser94=) rs781182616
NM_003002.4(SDHD):c.283C>T (p.Leu95=) rs1865691704
NM_003002.4(SDHD):c.288T>C (p.Ala96=) rs2135269735
NM_003002.4(SDHD):c.288T>G (p.Ala96=)
NM_003002.4(SDHD):c.291A>C (p.Ala97=) rs1592780682
NM_003002.4(SDHD):c.303T>G (p.Leu101=)
NM_003002.4(SDHD):c.314+13A>G
NM_003002.4(SDHD):c.314+15T>A
NM_003002.4(SDHD):c.314+17C>T
NM_003002.4(SDHD):c.314+18A>C
NM_003002.4(SDHD):c.314+19A>G
NM_003002.4(SDHD):c.314+20del rs755475561
NM_003002.4(SDHD):c.314+7A>T rs2135269897
NM_003002.4(SDHD):c.314+8T>C rs199645781
NM_003002.4(SDHD):c.314+8T>G rs199645781
NM_003002.4(SDHD):c.315-12C>A
NM_003002.4(SDHD):c.315-12dup
NM_003002.4(SDHD):c.315-16T>G
NM_003002.4(SDHD):c.315-18T>A rs1260988180
NM_003002.4(SDHD):c.315-4T>G rs944726340
NM_003002.4(SDHD):c.315-8T>C rs1592786101
NM_003002.4(SDHD):c.315-9T>G rs911853469
NM_003002.4(SDHD):c.318C>A (p.Gly106=) rs878854592
NM_003002.4(SDHD):c.318C>T (p.Gly106=) rs878854592
NM_003002.4(SDHD):c.336T>C (p.Thr112=)
NM_003002.4(SDHD):c.348T>C (p.His116=) rs2135277453
NM_003002.4(SDHD):c.351G>T (p.Gly117=) rs1566702512
NM_003002.4(SDHD):c.354T>C (p.Asp118=) rs911663426
NM_003002.4(SDHD):c.357C>T (p.Ala119=) rs2135277494
NM_003002.4(SDHD):c.363G>A (p.Gln121=) rs2135277509
NM_003002.4(SDHD):c.369T>C (p.Ala123=) rs747779190
NM_003002.4(SDHD):c.36T>G (p.Gly12=) rs1592777328
NM_003002.4(SDHD):c.372C>G (p.Ala124=) rs2135277535
NM_003002.4(SDHD):c.375G>A (p.Lys125=)
NM_003002.4(SDHD):c.378A>G (p.Ala126=)
NM_003002.4(SDHD):c.381G>T (p.Gly127=)
NM_003002.4(SDHD):c.390A>G (p.Ala130=)
NM_003002.4(SDHD):c.393T>C (p.Leu131=)
NM_003002.4(SDHD):c.396A>C (p.Ser132=) rs2135277619
NM_003002.4(SDHD):c.39C>T (p.Ala13=) rs1566690237
NM_003002.4(SDHD):c.405C>T (p.Thr135=) rs1555187606
NM_003002.4(SDHD):c.40C>T (p.Leu14=) rs1060503772
NM_003002.4(SDHD):c.411T>C (p.Ala137=) rs1298909305
NM_003002.4(SDHD):c.414G>A (p.Gly138=) rs1174448545
NM_003002.4(SDHD):c.429C>T (p.Asn143=) rs1036199125
NM_003002.4(SDHD):c.42A>G (p.Leu14=) rs878854593
NM_003002.4(SDHD):c.42A>T (p.Leu14=)
NM_003002.4(SDHD):c.450C>T (p.Cys150=) rs201337439
NM_003002.4(SDHD):c.45A>T (p.Gly15=) rs2135264801
NM_003002.4(SDHD):c.466C>T (p.Leu156=) rs2135277839
NM_003002.4(SDHD):c.468G>A (p.Leu156=) rs2135277845
NM_003002.4(SDHD):c.477C>G (p.Leu159=)
NM_003002.4(SDHD):c.479G>A (p.Ter160=) rs201372601
NM_003002.4(SDHD):c.48C>T (p.Gly16=) rs1555186688
NM_003002.4(SDHD):c.52+10C>G rs2135264901
NM_003002.4(SDHD):c.52+11T>A
NM_003002.4(SDHD):c.52+12T>C rs1865622422
NM_003002.4(SDHD):c.52+13C>T
NM_003002.4(SDHD):c.52+15C>T rs1486681280
NM_003002.4(SDHD):c.52+17C>G
NM_003002.4(SDHD):c.52+17C>T rs2135264969
NM_003002.4(SDHD):c.52+18C>T
NM_003002.4(SDHD):c.52+20T>C
NM_003002.4(SDHD):c.52+6G>A rs1416678757
NM_003002.4(SDHD):c.52+7G>C rs2135264872
NM_003002.4(SDHD):c.52+8dup rs2135264855
NM_003002.4(SDHD):c.53-12C>G rs2135266862
NM_003002.4(SDHD):c.53-12C>T rs2135266862
NM_003002.4(SDHD):c.53-13A>G
NM_003002.4(SDHD):c.53-14G>A
NM_003002.4(SDHD):c.53-15T>C
NM_003002.4(SDHD):c.53-17A>G rs1166658454
NM_003002.4(SDHD):c.53-18T>C
NM_003002.4(SDHD):c.53-20C>T
NM_003002.4(SDHD):c.53-5C>T rs913670110
NM_003002.4(SDHD):c.53-6C>T rs757454290
NM_003002.4(SDHD):c.53-7T>C
NM_003002.4(SDHD):c.53-8_53-7del rs765322445
NM_003002.4(SDHD):c.57G>A (p.Leu19=) rs560625389
NM_003002.4(SDHD):c.58T>C (p.Leu20=) rs1298878168
NM_003002.4(SDHD):c.60G>A (p.Leu20=) rs2135266996
NM_003002.4(SDHD):c.69T>A (p.Thr23=) rs1350100098
NM_003002.4(SDHD):c.69T>G (p.Thr23=) rs1350100098
NM_003002.4(SDHD):c.6G>A (p.Ala2=) rs1592777160
NM_003002.4(SDHD):c.72A>C (p.Pro24=) rs1413100881
NM_003002.4(SDHD):c.75G>A (p.Val25=)
NM_003002.4(SDHD):c.78C>T (p.Val26=)
NM_003002.4(SDHD):c.84T>C (p.Pro28=) rs2135267119
NM_003002.4(SDHD):c.90T>C (p.His30=)
NM_003002.4(SDHD):c.93C>T (p.Ile31=) rs766096986
NM_003002.4(SDHD):c.99A>G (p.Ala33=) rs2135267182
NM_003002.4(SDHD):c.9T>A (p.Val3=) rs1555186657
NM_006218.4(PIK3CA):c.1059+12T>C rs200627037
NM_006218.4(PIK3CA):c.1060-18_1060-17delinsAA rs1724504537
NM_006218.4(PIK3CA):c.1060-8T>C
NM_006218.4(PIK3CA):c.1060-8T>G
NM_006218.4(PIK3CA):c.1071A>G (p.Arg357=) rs2108394279
NM_006218.4(PIK3CA):c.1098C>A (p.Pro366=) rs1442927984
NM_006218.4(PIK3CA):c.1122A>G (p.Gln374=) rs2108394515
NM_006218.4(PIK3CA):c.1145+13A>G
NM_006218.4(PIK3CA):c.1145+16G>A
NM_006218.4(PIK3CA):c.1145+19T>G
NM_006218.4(PIK3CA):c.1145+9G>A rs1237861151
NM_006218.4(PIK3CA):c.1145+9G>T rs1237861151
NM_006218.4(PIK3CA):c.1146-17T>C
NM_006218.4(PIK3CA):c.1203A>C (p.Arg401=)
NM_006218.4(PIK3CA):c.1203A>G (p.Arg401=) rs1576938104
NM_006218.4(PIK3CA):c.1248A>G (p.Lys416=)
NM_006218.4(PIK3CA):c.1251+8_1251+11del rs2108399467
NM_006218.4(PIK3CA):c.1251+9T>G
NM_006218.4(PIK3CA):c.1254A>G (p.Glu418=) rs1060503810
NM_006218.4(PIK3CA):c.1269A>T (p.Ala423=) rs761246978
NM_006218.4(PIK3CA):c.1299A>G (p.Thr433=) rs1576938403
NM_006218.4(PIK3CA):c.1308A>G (p.Leu436=) rs2108400390
NM_006218.4(PIK3CA):c.1341A>C (p.Pro447=) rs1332986630
NM_006218.4(PIK3CA):c.1356A>G (p.Leu452=) rs1553822208
NM_006218.4(PIK3CA):c.1374T>A (p.Pro458=) rs1576938493
NM_006218.4(PIK3CA):c.1404+12A>C
NM_006218.4(PIK3CA):c.1404+15G>A rs555315457
NM_006218.4(PIK3CA):c.1404+15G>T
NM_006218.4(PIK3CA):c.1404+17C>T
NM_006218.4(PIK3CA):c.1405-14C>T
NM_006218.4(PIK3CA):c.1405-8T>C rs1576938589
NM_006218.4(PIK3CA):c.1428G>A (p.Glu476=) rs1576938610
NM_006218.4(PIK3CA):c.147A>G (p.Leu49=) rs1207754023
NM_006218.4(PIK3CA):c.1485T>C (p.His495=) rs1480813252
NM_006218.4(PIK3CA):c.1539+11T>C
NM_006218.4(PIK3CA):c.1539+17A>G rs2108401819
NM_006218.4(PIK3CA):c.1540-19A>G
NM_006218.4(PIK3CA):c.1540-20G>A
NM_006218.4(PIK3CA):c.1540-6T>C rs200006381
NM_006218.4(PIK3CA):c.1567T>C (p.Leu523=)
NM_006218.4(PIK3CA):c.15A>G (p.Pro5=) rs2108384979
NM_006218.4(PIK3CA):c.1602T>C (p.Ile534=) rs2108408180
NM_006218.4(PIK3CA):c.1629C>T (p.Ile543=)
NM_006218.4(PIK3CA):c.1635G>A (p.Glu545=) rs121913275
NM_006218.4(PIK3CA):c.1644A>G (p.Lys548=) rs2108408420
NM_006218.4(PIK3CA):c.1664+18G>A rs104886001
NM_006218.4(PIK3CA):c.1680T>C (p.Thr560=)
NM_006218.4(PIK3CA):c.171C>T (p.Pro57=) rs202038584
NM_006218.4(PIK3CA):c.1734T>C (p.Asp578=)
NM_006218.4(PIK3CA):c.1743C>G (p.Ala581=) rs370692448
NM_006218.4(PIK3CA):c.1743C>T (p.Ala581=) rs370692448
NM_006218.4(PIK3CA):c.1746+19T>G
NM_006218.4(PIK3CA):c.1747-11C>G
NM_006218.4(PIK3CA):c.1747-15C>T
NM_006218.4(PIK3CA):c.1747-3_1747-2del rs1724918816
NM_006218.4(PIK3CA):c.1747-4A>G
NM_006218.4(PIK3CA):c.1747-6dup rs1724918747
NM_006218.4(PIK3CA):c.1752T>C (p.Tyr584=)
NM_006218.4(PIK3CA):c.1776A>C (p.Pro592=) rs2108410693
NM_006218.4(PIK3CA):c.1794T>C (p.Ala598=) rs749558732
NM_006218.4(PIK3CA):c.186T>G (p.Leu62=)
NM_006218.4(PIK3CA):c.189A>G (p.Gln63=)
NM_006218.4(PIK3CA):c.1911+11G>T
NM_006218.4(PIK3CA):c.1911+14A>C
NM_006218.4(PIK3CA):c.1911+8A>G rs2108411355
NM_006218.4(PIK3CA):c.1912-18T>G rs1445802132
NM_006218.4(PIK3CA):c.1912-4C>G
NM_006218.4(PIK3CA):c.1959A>G (p.Leu653=) rs1553823720
NM_006218.4(PIK3CA):c.1960C>T (p.Leu654=)
NM_006218.4(PIK3CA):c.198T>C (p.Ser66=) rs752074639
NM_006218.4(PIK3CA):c.2015+18C>T
NM_006218.4(PIK3CA):c.2015+20del
NM_006218.4(PIK3CA):c.2015+8T>C rs2108412235
NM_006218.4(PIK3CA):c.2016-11G>A rs200418058
NM_006218.4(PIK3CA):c.2016-11G>C
NM_006218.4(PIK3CA):c.2016-11G>T
NM_006218.4(PIK3CA):c.2016-14C>A
NM_006218.4(PIK3CA):c.201T>G (p.Ser67=)
NM_006218.4(PIK3CA):c.2028C>T (p.His676=) rs1724953193
NM_006218.4(PIK3CA):c.2109T>C (p.Asn703=) rs1576943768
NM_006218.4(PIK3CA):c.213A>G (p.Val71=) rs879254355
NM_006218.4(PIK3CA):c.2148T>G (p.Thr716=)
NM_006218.4(PIK3CA):c.2169G>A (p.Lys723=) rs1201015891
NM_006218.4(PIK3CA):c.2172G>A (p.Lys724=) rs1036695914
NM_006218.4(PIK3CA):c.2181A>C (p.Thr727=)
NM_006218.4(PIK3CA):c.2187+11_2187+12del
NM_006218.4(PIK3CA):c.2188-15T>C
NM_006218.4(PIK3CA):c.2188-19A>G
NM_006218.4(PIK3CA):c.2188-8T>C
NM_006218.4(PIK3CA):c.2241T>C (p.Ala747=)
NM_006218.4(PIK3CA):c.2242C>T (p.Leu748=) rs2108416809
NM_006218.4(PIK3CA):c.2262T>A (p.Pro754=) rs1239363712
NM_006218.4(PIK3CA):c.2268C>T (p.Asn756=) rs2108416902
NM_006218.4(PIK3CA):c.2274T>C (p.Ala758=) rs757160501
NM_006218.4(PIK3CA):c.2277T>C (p.His759=) rs1056341727
NM_006218.4(PIK3CA):c.2289C>T (p.Asn763=) rs2108417002
NM_006218.4(PIK3CA):c.2294+20A>G
NM_006218.4(PIK3CA):c.2295-13A>G
NM_006218.4(PIK3CA):c.2295-8T>C rs754640150
NM_006218.4(PIK3CA):c.2295-9A>G
NM_006218.4(PIK3CA):c.2331G>A (p.Arg777=) rs771524333
NM_006218.4(PIK3CA):c.2352G>A (p.Glu784=)
NM_006218.4(PIK3CA):c.2416+10A>G rs1428028086
NM_006218.4(PIK3CA):c.2416+11G>T rs2108418320
NM_006218.4(PIK3CA):c.2417-18A>G
NM_006218.4(PIK3CA):c.2417-4T>A rs1060503815
NM_006218.4(PIK3CA):c.2417-4T>G rs1060503815
NM_006218.4(PIK3CA):c.2421A>G (p.Leu807=) rs2108419363
NM_006218.4(PIK3CA):c.2427A>G (p.Gln809=) rs2108419393
NM_006218.4(PIK3CA):c.2439A>C (p.Thr813=) rs201600506
NM_006218.4(PIK3CA):c.2439A>G (p.Thr813=) rs201600506
NM_006218.4(PIK3CA):c.2466T>C (p.Asn822=)
NM_006218.4(PIK3CA):c.2475A>G (p.Gln825=) rs1725073392
NM_006218.4(PIK3CA):c.2495+16G>C rs1193553351
NM_006218.4(PIK3CA):c.2495+19A>C
NM_006218.4(PIK3CA):c.2495+9C>T rs2108419671
NM_006218.4(PIK3CA):c.2496-10C>T
NM_006218.4(PIK3CA):c.2496-12C>T
NM_006218.4(PIK3CA):c.2496-13A>T rs1435775251
NM_006218.4(PIK3CA):c.2508T>C (p.Tyr836=) rs2108422421
NM_006218.4(PIK3CA):c.252T>C (p.Asp84=) rs1060503814
NM_006218.4(PIK3CA):c.2550G>C (p.Val850=)
NM_006218.4(PIK3CA):c.2568T>A (p.Thr856=) rs1440145288
NM_006218.4(PIK3CA):c.2604T>A (p.Gly868=)
NM_006218.4(PIK3CA):c.2666+10A>G rs554685447
NM_006218.4(PIK3CA):c.2666+17T>C
NM_006218.4(PIK3CA):c.2666+20C>T
NM_006218.4(PIK3CA):c.2667-11A>G
NM_006218.4(PIK3CA):c.2667-20G>A
NM_006218.4(PIK3CA):c.2673T>C (p.Asp891=) rs2108423966
NM_006218.4(PIK3CA):c.2679C>T (p.Ala893=) rs1576947998
NM_006218.4(PIK3CA):c.267T>G (p.Leu89=) rs372013414
NM_006218.4(PIK3CA):c.2785-5G>T rs2108424731
NM_006218.4(PIK3CA):c.2787G>C (p.Leu929=)
NM_006218.4(PIK3CA):c.2856G>A (p.Val952=) rs1282232507
NM_006218.4(PIK3CA):c.2910A>G (p.Glu970=)
NM_006218.4(PIK3CA):c.2913C>T (p.Cys971=) rs2108425304
NM_006218.4(PIK3CA):c.2922A>G (p.Thr974=)
NM_006218.4(PIK3CA):c.2936+11G>A
NM_006218.4(PIK3CA):c.2936+18A>G rs770971084
NM_006218.4(PIK3CA):c.2936+8C>A
NM_006218.4(PIK3CA):c.2937-13T>C
NM_006218.4(PIK3CA):c.2946G>A (p.Glu982=) rs2108428967
NM_006218.4(PIK3CA):c.2958G>A (p.Lys986=) rs2108429006
NM_006218.4(PIK3CA):c.2964T>C (p.Tyr988=) rs1725278470
NM_006218.4(PIK3CA):c.2991C>T (p.Leu997=) rs1381822974
NM_006218.4(PIK3CA):c.2997A>C (p.Ile999=)
NM_006218.4(PIK3CA):c.3009A>G (p.Ser1003=) rs2108429258
NM_006218.4(PIK3CA):c.3024T>C (p.Ser1008=)
NM_006218.4(PIK3CA):c.3060A>G (p.Ala1020=) rs1725280697
NM_006218.4(PIK3CA):c.3081C>G (p.Ala1027=) rs745464581
NM_006218.4(PIK3CA):c.3087T>C (p.Asp1029=)
NM_006218.4(PIK3CA):c.30G>A (p.Leu10=) rs758862912
NM_006218.4(PIK3CA):c.3138A>C (p.Ala1046=) rs1215652300
NM_006218.4(PIK3CA):c.3144T>C (p.His1048=) rs1725283801
NM_006218.4(PIK3CA):c.315A>G (p.Val105=)
NM_006218.4(PIK3CA):c.3180C>T (p.His1060=)
NM_006218.4(PIK3CA):c.3198A>T (p.Ala1066=)
NM_006218.4(PIK3CA):c.321C>T (p.Asn107=) rs1576932042
NM_006218.4(PIK3CA):c.352+10A>C rs2108386513
NM_006218.4(PIK3CA):c.352+9C>T rs1177991438
NM_006218.4(PIK3CA):c.353-17A>G
NM_006218.4(PIK3CA):c.353-18T>C
NM_006218.4(PIK3CA):c.353-2dup rs1181503590
NM_006218.4(PIK3CA):c.402A>T (p.Pro134=) rs1051402
NM_006218.4(PIK3CA):c.417C>T (p.Phe139=) rs2108387358
NM_006218.4(PIK3CA):c.42C>T (p.His14=)
NM_006218.4(PIK3CA):c.480T>C (p.His160=) rs2108387648
NM_006218.4(PIK3CA):c.489A>G (p.Ala163=) rs201815341
NM_006218.4(PIK3CA):c.522A>T (p.Ser174=) rs1424220720
NM_006218.4(PIK3CA):c.54A>C (p.Pro18=)
NM_006218.4(PIK3CA):c.562+16A>G
NM_006218.4(PIK3CA):c.563-16T>C rs2108389237
NM_006218.4(PIK3CA):c.579G>A (p.Val193=) rs2108389337
NM_006218.4(PIK3CA):c.594T>C (p.Val198=) rs2108389396
NM_006218.4(PIK3CA):c.609C>T (p.Asp203=)
NM_006218.4(PIK3CA):c.618G>A (p.Lys206=)
NM_006218.4(PIK3CA):c.61C>T (p.Leu21=) rs781473521
NM_006218.4(PIK3CA):c.621T>C (p.Tyr207=)
NM_006218.4(PIK3CA):c.636C>T (p.Asn212=) rs1060503811
NM_006218.4(PIK3CA):c.676A>C (p.Arg226=)
NM_006218.4(PIK3CA):c.699G>A (p.Leu233=)
NM_006218.4(PIK3CA):c.705C>A (p.Ser235=) rs879254356
NM_006218.4(PIK3CA):c.705C>T (p.Ser235=) rs879254356
NM_006218.4(PIK3CA):c.717A>G (p.Leu239=)
NM_006218.4(PIK3CA):c.747G>A (p.Lys249=)
NM_006218.4(PIK3CA):c.753T>A (p.Ile251=)
NM_006218.4(PIK3CA):c.762G>A (p.Val254=)
NM_006218.4(PIK3CA):c.813+15_813+16delinsAT rs2108390298
NM_006218.4(PIK3CA):c.849C>T (p.Pro283=) rs1553821070
NM_006218.4(PIK3CA):c.853T>C (p.Leu285=)
NM_006218.4(PIK3CA):c.876C>T (p.Ser292=) rs1244477182
NM_006218.4(PIK3CA):c.894A>G (p.Pro298=)
NM_006218.4(PIK3CA):c.895A>G (p.Met299Val) rs779900475
NM_006218.4(PIK3CA):c.939A>G (p.Thr313=) rs1382139686
NM_006363.6(SEC23B):c.1020A>G (p.Thr340=)
NM_006363.6(SEC23B):c.1029T>C (p.Asn343=)
NM_006363.6(SEC23B):c.1044T>C (p.Asp348=)
NM_006363.6(SEC23B):c.1053T>C (p.Ala351=)
NM_006363.6(SEC23B):c.105T>C (p.Val35=)
NM_006363.6(SEC23B):c.1068A>G (p.Gln356=)
NM_006363.6(SEC23B):c.1071T>C (p.Thr357=)
NM_006363.6(SEC23B):c.1078T>C (p.Leu360=)
NM_006363.6(SEC23B):c.1107T>A (p.Thr369=)
NM_006363.6(SEC23B):c.1109+10C>G
NM_006363.6(SEC23B):c.1109+11A>C
NM_006363.6(SEC23B):c.1109+19C>A
NM_006363.6(SEC23B):c.1109+7T>C
NM_006363.6(SEC23B):c.1110-20A>T
NM_006363.6(SEC23B):c.1144T>A (p.Ser382Thr)
NM_006363.6(SEC23B):c.1179T>C (p.Thr393=)
NM_006363.6(SEC23B):c.117T>C (p.Ala39=)
NM_006363.6(SEC23B):c.1191T>C (p.Asn397=)
NM_006363.6(SEC23B):c.1222T>C (p.Leu408=)
NM_006363.6(SEC23B):c.1227C>T (p.Asp409=)
NM_006363.6(SEC23B):c.1233+10A>C
NM_006363.6(SEC23B):c.1233+12T>A
NM_006363.6(SEC23B):c.1233+15T>A
NM_006363.6(SEC23B):c.1233+8_1233+9insG
NM_006363.6(SEC23B):c.1234-13A>C
NM_006363.6(SEC23B):c.1234-13A>G
NM_006363.6(SEC23B):c.1234-13A>T
NM_006363.6(SEC23B):c.1234-14_1234-13del rs765849514
NM_006363.6(SEC23B):c.1234-16C>A
NM_006363.6(SEC23B):c.1234-18G>A
NM_006363.6(SEC23B):c.1234-20C>T
NM_006363.6(SEC23B):c.1242G>A (p.Arg414=)
NM_006363.6(SEC23B):c.1275C>T (p.Cys425=)
NM_006363.6(SEC23B):c.1314+12A>T
NM_006363.6(SEC23B):c.1314+16C>T
NM_006363.6(SEC23B):c.1314+18A>G
NM_006363.6(SEC23B):c.1315-16C>T
NM_006363.6(SEC23B):c.1315-4C>G
NM_006363.6(SEC23B):c.1315-5C>T
NM_006363.6(SEC23B):c.1315-6C>T
NM_006363.6(SEC23B):c.1315-7C>T
NM_006363.6(SEC23B):c.1315-8A>G
NM_006363.6(SEC23B):c.1326T>C (p.Val442=)
NM_006363.6(SEC23B):c.1332C>T (p.Gly444=)
NM_006363.6(SEC23B):c.1335G>T (p.Thr445=)
NM_006363.6(SEC23B):c.1341G>A (p.Gln447=)
NM_006363.6(SEC23B):c.1347A>G (p.Lys449=)
NM_006363.6(SEC23B):c.1374A>C (p.Thr458=)
NM_006363.6(SEC23B):c.1401T>C (p.Asn467=)
NM_006363.6(SEC23B):c.1404+17C>T
NM_006363.6(SEC23B):c.1404+20A>G
NM_006363.6(SEC23B):c.1405-15C>T
NM_006363.6(SEC23B):c.1416G>A (p.Pro472=)
NM_006363.6(SEC23B):c.1416G>C (p.Pro472=) rs748683808
NM_006363.6(SEC23B):c.1422C>T (p.Pro474=)
NM_006363.6(SEC23B):c.1425A>G (p.Gln475=)
NM_006363.6(SEC23B):c.1443C>T (p.Ile481=)
NM_006363.6(SEC23B):c.1455G>A (p.Thr485=)
NM_006363.6(SEC23B):c.1455G>C (p.Thr485=)
NM_006363.6(SEC23B):c.1479G>A (p.Gln493=)
NM_006363.6(SEC23B):c.1485C>T (p.Arg495=)
NM_006363.6(SEC23B):c.1506C>G (p.Ala502=)
NM_006363.6(SEC23B):c.1511+18C>T
NM_006363.6(SEC23B):c.1511+21_1511+24del
NM_006363.6(SEC23B):c.1512-11G>A
NM_006363.6(SEC23B):c.1512-19C>A
NM_006363.6(SEC23B):c.1512-5G>A
NM_006363.6(SEC23B):c.1512-7T>C
NM_006363.6(SEC23B):c.1521T>C (p.Asp507=)
NM_006363.6(SEC23B):c.1536C>A (p.Leu512=)
NM_006363.6(SEC23B):c.1539G>A (p.Arg513=)
NM_006363.6(SEC23B):c.153A>T (p.Leu51=)
NM_006363.6(SEC23B):c.1563G>A (p.Gln521=)
NM_006363.6(SEC23B):c.1578G>A (p.Val526=)
NM_006363.6(SEC23B):c.1596G>C (p.Gly532=)
NM_006363.6(SEC23B):c.1608G>A (p.Ala536=)
NM_006363.6(SEC23B):c.1611G>A (p.Glu537=)
NM_006363.6(SEC23B):c.1626C>G (p.Pro542=)
NM_006363.6(SEC23B):c.1626C>T (p.Pro542=)
NM_006363.6(SEC23B):c.162A>G (p.Val54=)
NM_006363.6(SEC23B):c.1632G>C (p.Val544=)
NM_006363.6(SEC23B):c.1638G>A (p.Arg546=) rs138623580
NM_006363.6(SEC23B):c.1638G>C (p.Arg546=)
NM_006363.6(SEC23B):c.1653A>G (p.Gln551=)
NM_006363.6(SEC23B):c.1656C>T (p.Leu552=)
NM_006363.6(SEC23B):c.165A>G (p.Gln55=)
NM_006363.6(SEC23B):c.1660C>A (p.Arg554=)
NM_006363.6(SEC23B):c.1665+14A>G
NM_006363.6(SEC23B):c.1665+17G>A
NM_006363.6(SEC23B):c.1665+20A>T
NM_006363.6(SEC23B):c.1666-16T>G
NM_006363.6(SEC23B):c.1677T>C (p.Phe559=)
NM_006363.6(SEC23B):c.1680A>G (p.Gly560=)
NM_006363.6(SEC23B):c.1686T>C (p.Tyr562=)
NM_006363.6(SEC23B):c.1713G>A (p.Arg571=)
NM_006363.6(SEC23B):c.1719A>G (p.Ser573=)
NM_006363.6(SEC23B):c.1734A>G (p.Leu578=)
NM_006363.6(SEC23B):c.1743+20A>G
NM_006363.6(SEC23B):c.1744-10G>C
NM_006363.6(SEC23B):c.1744-14del
NM_006363.6(SEC23B):c.1744-16T>C
NM_006363.6(SEC23B):c.1744-18C>T
NM_006363.6(SEC23B):c.1753C>T (p.His585Tyr)
NM_006363.6(SEC23B):c.1764A>G (p.Arg588=)
NM_006363.6(SEC23B):c.1803G>A (p.Glu601=)
NM_006363.6(SEC23B):c.1806G>A (p.Ser602=)
NM_006363.6(SEC23B):c.1816A>C (p.Arg606=)
NM_006363.6(SEC23B):c.1818A>G (p.Arg606=)
NM_006363.6(SEC23B):c.183C>T (p.Cys61=)
NM_006363.6(SEC23B):c.1840C>T (p.Leu614=)
NM_006363.6(SEC23B):c.1866G>A (p.Gln622=)
NM_006363.6(SEC23B):c.1875C>G (p.Leu625=)
NM_006363.6(SEC23B):c.1881T>A (p.Ser627=)
NM_006363.6(SEC23B):c.1905+10dup
NM_006363.6(SEC23B):c.1905+12C>T
NM_006363.6(SEC23B):c.1905+16A>G
NM_006363.6(SEC23B):c.1905+8T>C
NM_006363.6(SEC23B):c.1905+8T>G
NM_006363.6(SEC23B):c.1905+9C>A
NM_006363.6(SEC23B):c.1906-11T>C
NM_006363.6(SEC23B):c.1906-12_1906-9del
NM_006363.6(SEC23B):c.1906-18C>G
NM_006363.6(SEC23B):c.1906-18C>T
NM_006363.6(SEC23B):c.1906-18_1906-14del
NM_006363.6(SEC23B):c.1906-19TC[2]
NM_006363.6(SEC23B):c.1906-19TC[3]
NM_006363.6(SEC23B):c.1906-7T>C
NM_006363.6(SEC23B):c.1906-8_1906-7del
NM_006363.6(SEC23B):c.1932T>C (p.Ile644=)
NM_006363.6(SEC23B):c.195T>C (p.Thr65=)
NM_006363.6(SEC23B):c.1962T>G (p.Thr654=)
NM_006363.6(SEC23B):c.1992+14ATTA[2]
NM_006363.6(SEC23B):c.1992+15_1992+17del
NM_006363.6(SEC23B):c.1992+17A>G
NM_006363.6(SEC23B):c.1992+8G>A
NM_006363.6(SEC23B):c.1992+8_1992+10del
NM_006363.6(SEC23B):c.1993-18T>C
NM_006363.6(SEC23B):c.1993-20G>A
NM_006363.6(SEC23B):c.1993-6G>C
NM_006363.6(SEC23B):c.1993-7T>C
NM_006363.6(SEC23B):c.2001C>T (p.Ala667=)
NM_006363.6(SEC23B):c.2034C>T (p.Pro678=)
NM_006363.6(SEC23B):c.2040T>C (p.Tyr680=)
NM_006363.6(SEC23B):c.2055C>T (p.His685=)
NM_006363.6(SEC23B):c.2073G>A (p.Leu691=)
NM_006363.6(SEC23B):c.2094G>T (p.Leu698=)
NM_006363.6(SEC23B):c.2109G>A (p.Pro703=)
NM_006363.6(SEC23B):c.2122A>G (p.Ile708Val)
NM_006363.6(SEC23B):c.2130G>A (p.Thr710=)
NM_006363.6(SEC23B):c.2139A>T (p.Gly713=)
NM_006363.6(SEC23B):c.2148+10C>T
NM_006363.6(SEC23B):c.2148+17C>G
NM_006363.6(SEC23B):c.2148+7G>A
NM_006363.6(SEC23B):c.2149-12T>C
NM_006363.6(SEC23B):c.2149-13G>C
NM_006363.6(SEC23B):c.2149-19G>T
NM_006363.6(SEC23B):c.2149-21TTG[4] rs746737770
NM_006363.6(SEC23B):c.2151T>G (p.Ala717=)
NM_006363.6(SEC23B):c.2166C>G (p.Ser722=)
NM_006363.6(SEC23B):c.216A>G (p.Pro72=)
NM_006363.6(SEC23B):c.2178A>C (p.Pro726=)
NM_006363.6(SEC23B):c.2178A>G (p.Pro726=)
NM_006363.6(SEC23B):c.2181T>C (p.Ser727=)
NM_006363.6(SEC23B):c.2199G>C (p.Leu733=) rs1600281875
NM_006363.6(SEC23B):c.2202T>C (p.Tyr734=)
NM_006363.6(SEC23B):c.2205T>C (p.Ala735=)
NM_006363.6(SEC23B):c.221+10C>G
NM_006363.6(SEC23B):c.221+163A>G
NM_006363.6(SEC23B):c.221+31A>T
NM_006363.6(SEC23B):c.2214+10C>A
NM_006363.6(SEC23B):c.2214+13_2214+14del
NM_006363.6(SEC23B):c.2214+14del
NM_006363.6(SEC23B):c.2214+15G>A
NM_006363.6(SEC23B):c.2214+15G>T
NM_006363.6(SEC23B):c.2215-18T>C
NM_006363.6(SEC23B):c.2215-19C>T
NM_006363.6(SEC23B):c.2215-9A>G
NM_006363.6(SEC23B):c.222-15T>A
NM_006363.6(SEC23B):c.222-17_222-15del
NM_006363.6(SEC23B):c.222-19_222-17del
NM_006363.6(SEC23B):c.222-4A>G
NM_006363.6(SEC23B):c.222-7C>G
NM_006363.6(SEC23B):c.2220T>C (p.Thr740=)
NM_006363.6(SEC23B):c.2233C>T (p.Leu745=)
NM_006363.6(SEC23B):c.2241T>C (p.Asp747=)
NM_006363.6(SEC23B):c.2247T>C (p.Val749=)
NM_006363.6(SEC23B):c.2250C>T (p.Ser750=)
NM_006363.6(SEC23B):c.225G>A (p.Gln75=)
NM_006363.6(SEC23B):c.2286T>C (p.Ala762=)
NM_006363.6(SEC23B):c.2289C>T (p.Val763=)
NM_006363.6(SEC23B):c.246T>C (p.Leu82=)
NM_006363.6(SEC23B):c.24C>A (p.Ile8=)
NM_006363.6(SEC23B):c.24C>T (p.Ile8=)
NM_006363.6(SEC23B):c.279+13T>A
NM_006363.6(SEC23B):c.279+17T>A
NM_006363.6(SEC23B):c.280-10T>C
NM_006363.6(SEC23B):c.280-11C>T
NM_006363.6(SEC23B):c.280-12C>G
NM_006363.6(SEC23B):c.280-12C>T
NM_006363.6(SEC23B):c.280-13T>G
NM_006363.6(SEC23B):c.280-20_280-14del
NM_006363.6(SEC23B):c.280-8_280-6del
NM_006363.6(SEC23B):c.294T>C (p.Tyr98=)
NM_006363.6(SEC23B):c.300C>T (p.Gly100=)
NM_006363.6(SEC23B):c.318A>G (p.Gln106=)
NM_006363.6(SEC23B):c.324C>T (p.Ala108=)
NM_006363.6(SEC23B):c.357C>T (p.Tyr119=)
NM_006363.6(SEC23B):c.366+11T>C
NM_006363.6(SEC23B):c.366+13T>A
NM_006363.6(SEC23B):c.366+15G>C
NM_006363.6(SEC23B):c.366+17G>A
NM_006363.6(SEC23B):c.366+18C>T
NM_006363.6(SEC23B):c.367-8G>C
NM_006363.6(SEC23B):c.369A>T (p.Arg123=)
NM_006363.6(SEC23B):c.375T>C (p.Ala125=)
NM_006363.6(SEC23B):c.408C>T (p.Asp136=)
NM_006363.6(SEC23B):c.414C>T (p.Cys138=)
NM_006363.6(SEC23B):c.438A>C (p.Ala146=)
NM_006363.6(SEC23B):c.438A>G (p.Ala146=)
NM_006363.6(SEC23B):c.450C>T (p.Ser150=)
NM_006363.6(SEC23B):c.480A>T (p.Pro160=)
NM_006363.6(SEC23B):c.489G>A (p.Leu163=)
NM_006363.6(SEC23B):c.489G>C (p.Leu163=)
NM_006363.6(SEC23B):c.489G>T (p.Leu163=)
NM_006363.6(SEC23B):c.528T>C (p.His176=)
NM_006363.6(SEC23B):c.534A>G (p.Leu178=)
NM_006363.6(SEC23B):c.539G>A (p.Cys180Tyr)
NM_006363.6(SEC23B):c.561T>C (p.Tyr187=)
NM_006363.6(SEC23B):c.564C>A (p.Val188=)
NM_006363.6(SEC23B):c.568C>A (p.Arg190=)
NM_006363.6(SEC23B):c.573G>A (p.Gly191=)
NM_006363.6(SEC23B):c.582T>C (p.Asp194=)
NM_006363.6(SEC23B):c.603+10T>C
NM_006363.6(SEC23B):c.603+12A>G
NM_006363.6(SEC23B):c.604-10T>G
NM_006363.6(SEC23B):c.604-11_604-10insC
NM_006363.6(SEC23B):c.604-19T>G
NM_006363.6(SEC23B):c.604-20T>C
NM_006363.6(SEC23B):c.604-6T>C
NM_006363.6(SEC23B):c.606T>C (p.Asp202=)
NM_006363.6(SEC23B):c.618G>T (p.Leu206=)
NM_006363.6(SEC23B):c.624G>A (p.Lys208=)
NM_006363.6(SEC23B):c.636C>T (p.Pro212=)
NM_006363.6(SEC23B):c.645A>G (p.Gln215=)
NM_006363.6(SEC23B):c.666G>A (p.Gln222=)
NM_006363.6(SEC23B):c.669G>A (p.Glu223=)
NM_006363.6(SEC23B):c.689+14A>T
NM_006363.6(SEC23B):c.689+19G>T
NM_006363.6(SEC23B):c.689+7G>T
NM_006363.6(SEC23B):c.689+8C>T
NM_006363.6(SEC23B):c.689+9C>A
NM_006363.6(SEC23B):c.690-17C>T
NM_006363.6(SEC23B):c.690-4_690-3dup
NM_006363.6(SEC23B):c.690-7C>G
NM_006363.6(SEC23B):c.6G>A (p.Ala2=)
NM_006363.6(SEC23B):c.708C>T (p.His236=)
NM_006363.6(SEC23B):c.732T>C (p.Asp244=)
NM_006363.6(SEC23B):c.738T>C (p.Leu246=)
NM_006363.6(SEC23B):c.744G>A (p.Glu248=)
NM_006363.6(SEC23B):c.759A>G (p.Pro253=)
NM_006363.6(SEC23B):c.765A>G (p.Pro255=)
NM_006363.6(SEC23B):c.783A>G (p.Arg261=)
NM_006363.6(SEC23B):c.78C>T (p.Ser26=)
NM_006363.6(SEC23B):c.819T>C (p.Ala273=)
NM_006363.6(SEC23B):c.834+14T>C rs2148899499
NM_006363.6(SEC23B):c.834+17C>G
NM_006363.6(SEC23B):c.834+17C>T
NM_006363.6(SEC23B):c.835-10G>A
NM_006363.6(SEC23B):c.84G>A (p.Arg28=)
NM_006363.6(SEC23B):c.85C>T (p.Leu29=) rs886056525
NM_006363.6(SEC23B):c.873T>C (p.Phe291=)
NM_006363.6(SEC23B):c.879A>G (p.Gly293=)
NM_006363.6(SEC23B):c.87G>A (p.Leu29=)
NM_006363.6(SEC23B):c.888T>C (p.Pro296=)
NM_006363.6(SEC23B):c.891C>T (p.Thr297=)
NM_006363.6(SEC23B):c.897G>A (p.Gly299=)
NM_006363.6(SEC23B):c.897G>C (p.Gly299=)
NM_006363.6(SEC23B):c.912T>A (p.Val304=)
NM_006363.6(SEC23B):c.93T>G (p.Ala31=)
NM_006363.6(SEC23B):c.954T>C (p.Ile318=)
NM_006363.6(SEC23B):c.960A>G (p.Lys320=)
NM_006363.6(SEC23B):c.96A>G (p.Thr32=)
NM_006363.6(SEC23B):c.985G>T (p.Ala329Ser) rs143417821
NM_006363.6(SEC23B):c.990C>T (p.Thr330=)
NM_006363.6(SEC23B):c.993+11T>C
NM_006363.6(SEC23B):c.993+14G>A
NM_006363.6(SEC23B):c.993+15G>C
NM_006363.6(SEC23B):c.993+8C>G
NM_006363.6(SEC23B):c.993+8C>T
NM_006363.6(SEC23B):c.994-10C>G
NM_006363.6(SEC23B):c.994-13C>G
NM_006363.6(SEC23B):c.994-189T>A
NM_006363.6(SEC23B):c.994-189T>C
NM_006363.6(SEC23B):c.994-19A>G
NM_006363.6(SEC23B):c.994-20T>A
NM_006363.6(SEC23B):c.9A>G (p.Thr3=)

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