Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.87958010_87960896del | CA645554069 | PTEN | c.792_897del c.792_804del n.1527_1539del c.*622_*634del c.747_759del c.*131_*143del n.1950_1962del n.2184_2196del n.1561_1573del n.429_441del c.626_731del c.*827_*839del c.*378_*390del c.*903_*915del c.713_725del c.1311_1323del c.219_231del c.201_213del c.696_708del n.1362_1374del | COSMIC |
10 | g.87960761_87961026delinsAATGATAGTTTATTTTGTTGACTTTTTGCAAATGTTTAACATAGGTGACAGATTTTCTTTTTTAAAAAAATAAAACATCATTAATTAAATATGTCATTTCATTTCTTTTTCTTTTCTTTTTTTTTTTTTTTAGGACAAAATGTTTCACTTTTGGGTAAATACATTCTTCATACCAGGACCAGAGGAAACCTCAGAAAAAGTAGAAAATGGAAGTCTATGTGATCAAGAAATCGATAGCATTTGCAGTATAGAGCGTGCAGATAATG | CA1926189831 | PTEN | c.895-133_1027delinsAATGATAGTTTATTTTGTTGACTTTTTGCAAATGTTTAACATAGGTGACAGATTTTCTTTTTTAAAAAAATAAAACATCATTAATTAAATATGTCATTTCATTTCTTTTTCTTTTCTTTTTTTTTTTTTTTAGGACAAAATGTTTCACTTTTGGGTAAATACATTCTTCATACCAGGACCAGAGGAAACCTCAGAAAAAGTAGAAAATGGAAGTCTATGTGATCAAGAAATCGATAGCATTTGCAGTATAGAGCGTGCAGATAATG c.802-133_934delinsAATGATAGTTTATTTTGTTGACTTTTTGCAAATGTTTAACATAGGTGACAGATTTTCTTTTTTAAAAAAATAAAACATCATTAATTAAATATGTCATTTCATTTCTTTTTCTTTTCTTTTTTTTTTTTTTTAGGACAAAATGTTTCACTTTTGGGTAAATACATTCTTCATACCAGGACCAGAGGAAACCTCAGAAAAAGTAGAAAATGGAAGTCTATGTGATCAAGAAATCGATAGCATTTGCAGTATAGAGCGTGCAGATAATG n.1537-133_1669delinsAATGATAGTTTATTTTGTTGACTTTTTGCAAATGTTTAACATAGGTGACAGATTTTCTTTTTTAAAAAAATAAAACATCATTAATTAAATATGTCATTTCATTTCTTTTTCTTTTCTTTTTTTTTTTTTTTAGGACAAAATGTTTCACTTTTGGGTAAATACATTCTTCATACCAGGACCAGAGGAAACCTCAGAAAAAGTAGAAAATGGAAGTCTATGTGATCAAGAAATCGATAGCATTTGCAGTATAGAGCGTGCAGATAATG c.*632-133_*764delinsAATGATAGTTTATTTTGTTGACTTTTTGCAAATGTTTAACATAGGTGACAGATTTTCTTTTTTAAAAAAATAAAACATCATTAATTAAATATGTCATTTCATTTCTTTTTCTTTTCTTTTTTTTTTTTTTTAGGACAAAATGTTTCACTTTTGGGTAAATACATTCTTCATACCAGGACCAGAGGAAACCTCAGAAAAAGTAGAAAATGGAAGTCTATGTGATCAAGAAATCGATAGCATTTGCAGTATAGAGCGTGCAGATAATG c.757-133_889delinsAATGATAGTTTATTTTGTTGACTTTTTGCAAATGTTTAACATAGGTGACAGATTTTCTTTTTTAAAAAAATAAAACATCATTAATTAAATATGTCATTTCATTTCTTTTTCTTTTCTTTTTTTTTTTTTTTAGGACAAAATGTTTCACTTTTGGGTAAATACATTCTTCATACCAGGACCAGAGGAAACCTCAGAAAAAGTAGAAAATGGAAGTCTATGTGATCAAGAAATCGATAGCATTTGCAGTATAGAGCGTGCAGATAATG c.*141-133_*273delinsAATGATAGTTTATTTTGTTGACTTTTTGCAAATGTTTAACATAGGTGACAGATTTTCTTTTTTAAAAAAATAAAACATCATTAATTAAATATGTCATTTCATTTCTTTTTCTTTTCTTTTTTTTTTTTTTTAGGACAAAATGTTTCACTTTTGGGTAAATACATTCTTCATACCAGGACCAGAGGAAACCTCAGAAAAAGTAGAAAATGGAAGTCTATGTGATCAAGAAATCGATAGCATTTGCAGTATAGAGCGTGCAGATAATG n.1960-133_2092delinsAATGATAGTTTATTTTGTTGACTTTTTGCAAATGTTTAACATAGGTGACAGATTTTCTTTTTTAAAAAAATAAAACATCATTAATTAAATATGTCATTTCATTTCTTTTTCTTTTCTTTTTTTTTTTTTTTAGGACAAAATGTTTCACTTTTGGGTAAATACATTCTTCATACCAGGACCAGAGGAAACCTCAGAAAAAGTAGAAAATGGAAGTCTATGTGATCAAGAAATCGATAGCATTTGCAGTATAGAGCGTGCAGATAATG n.2194-133_2326delinsAATGATAGTTTATTTTGTTGACTTTTTGCAAATGTTTAACATAGGTGACAGATTTTCTTTTTTAAAAAAATAAAACATCATTAATTAAATATGTCATTTCATTTCTTTTTCTTTTCTTTTTTTTTTTTTTTAGGACAAAATGTTTCACTTTTGGGTAAATACATTCTTCATACCAGGACCAGAGGAAACCTCAGAAAAAGTAGAAAATGGAAGTCTATGTGATCAAGAAATCGATAGCATTTGCAGTATAGAGCGTGCAGATAATG n.1571-133_1703delinsAATGATAGTTTATTTTGTTGACTTTTTGCAAATGTTTAACATAGGTGACAGATTTTCTTTTTTAAAAAAATAAAACATCATTAATTAAATATGTCATTTCATTTCTTTTTCTTTTCTTTTTTTTTTTTTTTAGGACAAAATGTTTCACTTTTGGGTAAATACATTCTTCATACCAGGACCAGAGGAAACCTCAGAAAAAGTAGAAAATGGAAGTCTATGTGATCAAGAAATCGATAGCATTTGCAGTATAGAGCGTGCAGATAATG n.439-133_571delinsAATGATAGTTTATTTTGTTGACTTTTTGCAAATGTTTAACATAGGTGACAGATTTTCTTTTTTAAAAAAATAAAACATCATTAATTAAATATGTCATTTCATTTCTTTTTCTTTTCTTTTTTTTTTTTTTTAGGACAAAATGTTTCACTTTTGGGTAAATACATTCTTCATACCAGGACCAGAGGAAACCTCAGAAAAAGTAGAAAATGGAAGTCTATGTGATCAAGAAATCGATAGCATTTGCAGTATAGAGCGTGCAGATAATG c.*837-133_*969delinsAATGATAGTTTATTTTGTTGACTTTTTGCAAATGTTTAACATAGGTGACAGATTTTCTTTTTTAAAAAAATAAAACATCATTAATTAAATATGTCATTTCATTTCTTTTTCTTTTCTTTTTTTTTTTTTTTAGGACAAAATGTTTCACTTTTGGGTAAATACATTCTTCATACCAGGACCAGAGGAAACCTCAGAAAAAGTAGAAAATGGAAGTCTATGTGATCAAGAAATCGATAGCATTTGCAGTATAGAGCGTGCAGATAATG c.*388-133_*520delinsAATGATAGTTTATTTTGTTGACTTTTTGCAAATGTTTAACATAGGTGACAGATTTTCTTTTTTAAAAAAATAAAACATCATTAATTAAATATGTCATTTCATTTCTTTTTCTTTTCTTTTTTTTTTTTTTTAGGACAAAATGTTTCACTTTTGGGTAAATACATTCTTCATACCAGGACCAGAGGAAACCTCAGAAAAAGTAGAAAATGGAAGTCTATGTGATCAAGAAATCGATAGCATTTGCAGTATAGAGCGTGCAGATAATG c.*913-133_*1045delinsAATGATAGTTTATTTTGTTGACTTTTTGCAAATGTTTAACATAGGTGACAGATTTTCTTTTTTAAAAAAATAAAACATCATTAATTAAATATGTCATTTCATTTCTTTTTCTTTTCTTTTTTTTTTTTTTTAGGACAAAATGTTTCACTTTTGGGTAAATACATTCTTCATACCAGGACCAGAGGAAACCTCAGAAAAAGTAGAAAATGGAAGTCTATGTGATCAAGAAATCGATAGCATTTGCAGTATAGAGCGTGCAGATAATG c.723-133_855delinsAATGATAGTTTATTTTGTTGACTTTTTGCAAATGTTTAACATAGGTGACAGATTTTCTTTTTTAAAAAAATAAAACATCATTAATTAAATATGTCATTTCATTTCTTTTTCTTTTCTTTTTTTTTTTTTTTAGGACAAAATGTTTCACTTTTGGGTAAATACATTCTTCATACCAGGACCAGAGGAAACCTCAGAAAAAGTAGAAAATGGAAGTCTATGTGATCAAGAAATCGATAGCATTTGCAGTATAGAGCGTGCAGATAATG c.1321-133_1453delinsAATGATAGTTTATTTTGTTGACTTTTTGCAAATGTTTAACATAGGTGACAGATTTTCTTTTTTAAAAAAATAAAACATCATTAATTAAATATGTCATTTCATTTCTTTTTCTTTTCTTTTTTTTTTTTTTTAGGACAAAATGTTTCACTTTTGGGTAAATACATTCTTCATACCAGGACCAGAGGAAACCTCAGAAAAAGTAGAAAATGGAAGTCTATGTGATCAAGAAATCGATAGCATTTGCAGTATAGAGCGTGCAGATAATG c.229-133_361delinsAATGATAGTTTATTTTGTTGACTTTTTGCAAATGTTTAACATAGGTGACAGATTTTCTTTTTTAAAAAAATAAAACATCATTAATTAAATATGTCATTTCATTTCTTTTTCTTTTCTTTTTTTTTTTTTTTAGGACAAAATGTTTCACTTTTGGGTAAATACATTCTTCATACCAGGACCAGAGGAAACCTCAGAAAAAGTAGAAAATGGAAGTCTATGTGATCAAGAAATCGATAGCATTTGCAGTATAGAGCGTGCAGATAATG c.211-133_343delinsAATGATAGTTTATTTTGTTGACTTTTTGCAAATGTTTAACATAGGTGACAGATTTTCTTTTTTAAAAAAATAAAACATCATTAATTAAATATGTCATTTCATTTCTTTTTCTTTTCTTTTTTTTTTTTTTTAGGACAAAATGTTTCACTTTTGGGTAAATACATTCTTCATACCAGGACCAGAGGAAACCTCAGAAAAAGTAGAAAATGGAAGTCTATGTGATCAAGAAATCGATAGCATTTGCAGTATAGAGCGTGCAGATAATG c.706-133_838delinsAATGATAGTTTATTTTGTTGACTTTTTGCAAATGTTTAACATAGGTGACAGATTTTCTTTTTTAAAAAAATAAAACATCATTAATTAAATATGTCATTTCATTTCTTTTTCTTTTCTTTTTTTTTTTTTTTAGGACAAAATGTTTCACTTTTGGGTAAATACATTCTTCATACCAGGACCAGAGGAAACCTCAGAAAAAGTAGAAAATGGAAGTCTATGTGATCAAGAAATCGATAGCATTTGCAGTATAGAGCGTGCAGATAATG n.1372-133_1504delinsAATGATAGTTTATTTTGTTGACTTTTTGCAAATGTTTAACATAGGTGACAGATTTTCTTTTTTAAAAAAATAAAACATCATTAATTAAATATGTCATTTCATTTCTTTTTCTTTTCTTTTTTTTTTTTTTTAGGACAAAATGTTTCACTTTTGGGTAAATACATTCTTCATACCAGGACCAGAGGAAACCTCAGAAAAAGTAGAAAATGGAAGTCTATGTGATCAAGAAATCGATAGCATTTGCAGTATAGAGCGTGCAGATAATG | |
10 | g.87960763_87961027del | CA1139661608 | PTEN | c.895-131_1028del c.802-131_935del n.1537-131_1670del c.*632-131_*765del c.757-131_890del c.*141-131_*274del n.1960-131_2093del n.2194-131_2327del n.1571-131_1704del n.439-131_572del c.*837-131_*970del c.*388-131_*521del c.*913-131_*1046del c.723-131_856del c.1321-131_1454del c.229-131_362del c.211-131_344del c.706-131_839del n.1372-131_1505del | ClinVar dbSNP |
10 | g.87960840_87960975del | CA2695200889 | PTEN | c.895-54_976del c.802-54_883del n.1537-54_1618del c.*632-54_*713del c.757-54_838del c.*141-54_*222del n.1960-54_2041del n.2194-54_2275del n.1571-54_1652del n.439-54_520del c.*837-54_*918del c.*388-54_*469del c.*913-54_*994del c.723-54_804del c.1321-54_1402del c.229-54_310del c.211-54_292del c.706-54_787del n.1372-54_1453del | ClinVar |
10 | g.87960857_87960907del | CA2695200890 | PTEN | c.895-37_908del c.802-37_815del n.1537-37_1550del c.*632-37_*645del c.757-37_770del c.*141-37_*154del n.1960-37_1973del n.2194-37_2207del n.1571-37_1584del n.439-37_452del c.729-37_742del c.*837-37_*850del c.*388-37_*401del c.*913-37_*926del c.723-37_736del c.1321-37_1334del c.229-37_242del c.211-37_224del c.706-37_719del n.1372-37_1385del | ClinVar |
10 | g.87960881_87960912del | CA645554076 | PTEN | c.895-13_913del c.802-13_820del n.1537-13_1555del c.*632-13_*650del c.757-13_775del c.*141-13_*159del n.1960-13_1978del n.2194-13_2212del n.1571-13_1589del n.439-13_457del c.729-13_747del c.*837-13_*855del c.*388-13_*406del c.*913-13_*931del c.723-13_741del c.1321-13_1339del c.229-13_247del c.211-13_229del c.706-13_724del n.1372-13_1390del | COSMIC |
10 | g.87960886_87960931del | CA2695200891 | PTEN | c.895-8_932del c.802-8_839del n.1537-8_1574del c.*632-8_*669del c.757-8_794del c.*141-8_*178del n.1960-8_1997del n.2194-8_2231del n.1571-8_1608del n.439-8_476del c.729-8_766del c.*837-8_*874del c.*388-8_*425del c.*913-8_*950del c.723-8_760del c.1321-8_1358del c.229-8_266del c.211-8_248del c.706-8_743del n.1372-8_1409del | ClinVar |
10 | g.87960889_87960896delinsTTTAGGAC | CA1926189930 | PTEN | c.895-5_897delinsTTTAGGAC c.802-5_804delinsTTTAGGAC n.1537-5_1539delinsTTTAGGAC c.*632-5_*634delinsTTTAGGAC c.757-5_759delinsTTTAGGAC c.*141-5_*143delinsTTTAGGAC n.1960-5_1962delinsTTTAGGAC n.2194-5_2196delinsTTTAGGAC n.1571-5_1573delinsTTTAGGAC n.439-5_441delinsTTTAGGAC c.729-5_731delinsTTTAGGAC c.*837-5_*839delinsTTTAGGAC c.*388-5_*390delinsTTTAGGAC c.*913-5_*915delinsTTTAGGAC c.723-5_725delinsTTTAGGAC c.1321-5_1323delinsTTTAGGAC c.229-5_231delinsTTTAGGAC c.211-5_213delinsTTTAGGAC c.706-5_708delinsTTTAGGAC n.1372-5_1374delinsTTTAGGAC | |
10 | g.87960890_87960896delinsA | CA16612913 | PTEN | c.895-4_897delinsA c.802-4_804delinsA n.1537-4_1539delinsA c.*632-4_*634delinsA c.757-4_759delinsA c.*141-4_*143delinsA n.1960-4_1962delinsA n.2194-4_2196delinsA n.1571-4_1573delinsA n.439-4_441delinsA c.729-4_731delinsA c.*837-4_*839delinsA c.*388-4_*390delinsA c.*913-4_*915delinsA c.723-4_725delinsA c.1321-4_1323delinsA c.229-4_231delinsA c.211-4_213delinsA c.706-4_708delinsA n.1372-4_1374delinsA | ClinVar dbSNP |
10 | g.87960891_87960896del | CA2499220470 | PTEN | c.895-3_897del c.802-3_804del n.1537-3_1539del c.*632-3_*634del c.757-3_759del c.*141-3_*143del n.1960-3_1962del n.2194-3_2196del n.1571-3_1573del n.439-3_441del c.729-3_731del c.*837-3_*839del c.*388-3_*390del c.*913-3_*915del c.723-3_725del c.1321-3_1323del c.229-3_231del c.211-3_213del c.706-3_708del n.1372-3_1374del | dbSNP |
10 | g.87960891_87960900delinsTAGGACAAAA | CA1926189934 | PTEN | c.895-3_901delinsTAGGACAAAA c.802-3_808delinsTAGGACAAAA n.1537-3_1543delinsTAGGACAAAA c.*632-3_*638delinsTAGGACAAAA c.757-3_763delinsTAGGACAAAA c.*141-3_*147delinsTAGGACAAAA n.1960-3_1966delinsTAGGACAAAA n.2194-3_2200delinsTAGGACAAAA n.1571-3_1577delinsTAGGACAAAA n.439-3_445delinsTAGGACAAAA c.729-3_735delinsTAGGACAAAA c.*837-3_*843delinsTAGGACAAAA c.*388-3_*394delinsTAGGACAAAA c.*913-3_*919delinsTAGGACAAAA c.723-3_729delinsTAGGACAAAA c.1321-3_1327delinsTAGGACAAAA c.229-3_235delinsTAGGACAAAA c.211-3_217delinsTAGGACAAAA c.706-3_712delinsTAGGACAAAA n.1372-3_1378delinsTAGGACAAAA | |
10 | g.87960891_87960908delinsTAGGACAAAATGTTTCAC | CA1926189933 | PTEN | c.895-3_909delinsTAGGACAAAATGTTTCAC c.802-3_816delinsTAGGACAAAATGTTTCAC n.1537-3_1551delinsTAGGACAAAATGTTTCAC c.*632-3_*646delinsTAGGACAAAATGTTTCAC c.757-3_771delinsTAGGACAAAATGTTTCAC c.*141-3_*155delinsTAGGACAAAATGTTTCAC n.1960-3_1974delinsTAGGACAAAATGTTTCAC n.2194-3_2208delinsTAGGACAAAATGTTTCAC n.1571-3_1585delinsTAGGACAAAATGTTTCAC n.439-3_453delinsTAGGACAAAATGTTTCAC c.729-3_743delinsTAGGACAAAATGTTTCAC c.*837-3_*851delinsTAGGACAAAATGTTTCAC c.*388-3_*402delinsTAGGACAAAATGTTTCAC c.*913-3_*927delinsTAGGACAAAATGTTTCAC c.723-3_737delinsTAGGACAAAATGTTTCAC c.1321-3_1335delinsTAGGACAAAATGTTTCAC c.229-3_243delinsTAGGACAAAATGTTTCAC c.211-3_225delinsTAGGACAAAATGTTTCAC c.706-3_720delinsTAGGACAAAATGTTTCAC n.1372-3_1386delinsTAGGACAAAATGTTTCAC | |
10 | g.87960892_87960909del | CA2610047923 | PTEN | c.895-2_910del c.802-2_817del n.1537-2_1552del c.*632-2_*647del c.757-2_772del c.*141-2_*156del n.1960-2_1975del n.2194-2_2209del n.1571-2_1586del n.439-2_454del c.729-2_744del c.*837-2_*852del c.*388-2_*403del c.*913-2_*928del c.723-2_738del c.1321-2_1336del c.229-2_244del c.211-2_226del c.706-2_721del n.1372-2_1387del | gnomAD v4 |
10 | g.87960893_87960897del | CA930924151 | PTEN | c.895-1_898del c.802-1_805del n.1537-1_1540del c.*632-1_*635del c.757-1_760del c.*141-1_*144del n.1960-1_1963del n.2194-1_2197del n.1571-1_1574del n.439-1_442del c.729-1_732del c.*837-1_*840del c.*388-1_*391del c.*913-1_*916del c.723-1_726del c.1321-1_1324del c.229-1_232del c.211-1_214del c.706-1_709del n.1372-1_1375del | gnomAD v3 gnomAD v4 |
10 | g.87960893_87960898del | CA930924149 | PTEN | c.895-1_899del c.802-1_806del n.1537-1_1541del c.*632-1_*636del c.757-1_761del c.*141-1_*145del n.1960-1_1964del n.2194-1_2198del n.1571-1_1575del n.439-1_443del c.729-1_733del c.*837-1_*841del c.*388-1_*392del c.*913-1_*917del c.723-1_727del c.1321-1_1325del c.229-1_233del c.211-1_215del c.706-1_710del n.1372-1_1376del | gnomAD v3 gnomAD v4 |
10 | g.87960892_87960900del | CA595184728 | PTEN | c.895-2_901del c.802-2_808del n.1537-2_1543del c.*632-2_*638del c.757-2_763del c.*141-2_*147del n.1960-2_1966del n.2194-2_2200del n.1571-2_1577del n.439-2_445del c.729-2_735del c.*837-2_*843del c.*388-2_*394del c.*913-2_*919del c.723-2_729del c.1321-2_1327del c.229-2_235del c.211-2_217del c.706-2_712del n.1372-2_1378del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.87960892_87960908del | CA595184727 | PTEN | c.895-2_909del c.802-2_816del n.1537-2_1551del c.*632-2_*646del c.757-2_771del c.*141-2_*155del n.1960-2_1974del n.2194-2_2208del n.1571-2_1585del n.439-2_453del c.729-2_743del c.*837-2_*851del c.*388-2_*402del c.*913-2_*927del c.723-2_737del c.1321-2_1335del c.229-2_243del c.211-2_225del c.706-2_720del n.1372-2_1386del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.87960893_87960896del | CA2788884054 | PTEN | c.895-1_897del c.802-1_804del n.1537-1_1539del c.*632-1_*634del c.757-1_759del c.*141-1_*143del n.1960-1_1962del n.2194-1_2196del n.1571-1_1573del n.439-1_441del c.729-1_731del c.*837-1_*839del c.*388-1_*390del c.*913-1_*915del c.723-1_725del c.1321-1_1323del c.229-1_231del c.211-1_213del c.706-1_708del n.1372-1_1374del | |
10 | g.87960894_87960896del | CA645554079 | PTEN | c.895_897del (p.Asp299del) c.802_804del (p.Asp268del) n.1537_1539del c.*632_*634del (n.*632_*634del) c.757_759del (p.Asp253del) c.*141_*143del (n.*141_*143del) n.1960_1962del n.2194_2196del n.1571_1573del n.439_441del c.729_731del c.*837_*839del (n.*837_*839del) c.*388_*390del (n.*388_*390del) c.*913_*915del (n.*913_*915del) c.723_725del c.1321_1323del (p.Asp441del) c.229_231del (p.Asp77del) c.211_213del (p.Asp71del) c.706_708del (p.Asp236del) n.1372_1374del | COSMIC |
10 | g.87960894_87960896delinsAAA | CA891840148 | PTEN | c.895_897delinsAAA (p.Asp299Lys) c.802_804delinsAAA (p.Asp268Lys) n.1537_1539delinsAAA c.*632_*634delinsAAA (n.*632_*634delinsAAA) c.757_759delinsAAA (p.Asp253Lys) c.*141_*143delinsAAA (n.*141_*143delinsAAA) n.1960_1962delinsAAA n.2194_2196delinsAAA n.1571_1573delinsAAA n.439_441delinsAAA c.729_731delinsAAA c.*837_*839delinsAAA (n.*837_*839delinsAAA) c.*388_*390delinsAAA (n.*388_*390delinsAAA) c.*913_*915delinsAAA (n.*913_*915delinsAAA) c.723_725delinsAAA c.1321_1323delinsAAA (p.Asp441Lys) c.229_231delinsAAA (p.Asp77Lys) c.211_213delinsAAA (p.Asp71Lys) c.706_708delinsAAA (p.Asp236Lys) n.1372_1374delinsAAA | |
10 | g.87960894_87960896delinsAAT | CA891840153 | PTEN | c.895_897delinsAAT (p.Asp299Asn) c.802_804delinsAAT (p.Asp268Asn) n.1537_1539delinsAAT c.*632_*634delinsAAT (n.*632_*634delinsAAT) c.757_759delinsAAT (p.Asp253Asn) c.*141_*143delinsAAT (n.*141_*143delinsAAT) n.1960_1962delinsAAT n.2194_2196delinsAAT n.1571_1573delinsAAT n.439_441delinsAAT c.729_731delinsAAT c.*837_*839delinsAAT (n.*837_*839delinsAAT) c.*388_*390delinsAAT (n.*388_*390delinsAAT) c.*913_*915delinsAAT (n.*913_*915delinsAAT) c.723_725delinsAAT c.1321_1323delinsAAT (p.Asp441Asn) c.229_231delinsAAT (p.Asp77Asn) c.211_213delinsAAT (p.Asp71Asn) c.706_708delinsAAT (p.Asp236Asn) n.1372_1374delinsAAT | |
10 | g.87960894_87960896delinsACT | CA891840154 | PTEN | c.895_897delinsACT (p.Asp299Thr) c.802_804delinsACT (p.Asp268Thr) n.1537_1539delinsACT c.*632_*634delinsACT (n.*632_*634delinsACT) c.757_759delinsACT (p.Asp253Thr) c.*141_*143delinsACT (n.*141_*143delinsACT) n.1960_1962delinsACT n.2194_2196delinsACT n.1571_1573delinsACT n.439_441delinsACT c.729_731delinsACT c.*837_*839delinsACT (n.*837_*839delinsACT) c.*388_*390delinsACT (n.*388_*390delinsACT) c.*913_*915delinsACT (n.*913_*915delinsACT) c.723_725delinsACT c.1321_1323delinsACT (p.Asp441Thr) c.229_231delinsACT (p.Asp77Thr) c.211_213delinsACT (p.Asp71Thr) c.706_708delinsACT (p.Asp236Thr) n.1372_1374delinsACT | |
10 | g.87960894_87960896delinsAGA | CA891840146 | PTEN | c.895_897delinsAGA (p.Asp299Arg) c.802_804delinsAGA (p.Asp268Arg) n.1537_1539delinsAGA c.*632_*634delinsAGA (n.*632_*634delinsAGA) c.757_759delinsAGA (p.Asp253Arg) c.*141_*143delinsAGA (n.*141_*143delinsAGA) n.1960_1962delinsAGA n.2194_2196delinsAGA n.1571_1573delinsAGA n.439_441delinsAGA c.729_731delinsAGA c.*837_*839delinsAGA (n.*837_*839delinsAGA) c.*388_*390delinsAGA (n.*388_*390delinsAGA) c.*913_*915delinsAGA (n.*913_*915delinsAGA) c.723_725delinsAGA c.1321_1323delinsAGA (p.Asp441Arg) c.229_231delinsAGA (p.Asp77Arg) c.211_213delinsAGA (p.Asp71Arg) c.706_708delinsAGA (p.Asp236Arg) n.1372_1374delinsAGA | |
10 | g.87960894_87960896delinsATG | CA891840159 | PTEN | c.895_897delinsATG (p.Asp299Met) c.802_804delinsATG (p.Asp268Met) n.1537_1539delinsATG c.*632_*634delinsATG (n.*632_*634delinsATG) c.757_759delinsATG (p.Asp253Met) c.*141_*143delinsATG (n.*141_*143delinsATG) n.1960_1962delinsATG n.2194_2196delinsATG n.1571_1573delinsATG n.439_441delinsATG c.729_731delinsATG c.*837_*839delinsATG (n.*837_*839delinsATG) c.*388_*390delinsATG (n.*388_*390delinsATG) c.*913_*915delinsATG (n.*913_*915delinsATG) c.723_725delinsATG c.1321_1323delinsATG (p.Asp441Met) c.229_231delinsATG (p.Asp77Met) c.211_213delinsATG (p.Asp71Met) c.706_708delinsATG (p.Asp236Met) n.1372_1374delinsATG | |
10 | g.87960894_87960896delinsATT | CA891840156 | PTEN | c.895_897delinsATT (p.Asp299Ile) c.802_804delinsATT (p.Asp268Ile) n.1537_1539delinsATT c.*632_*634delinsATT (n.*632_*634delinsATT) c.757_759delinsATT (p.Asp253Ile) c.*141_*143delinsATT (n.*141_*143delinsATT) n.1960_1962delinsATT n.2194_2196delinsATT n.1571_1573delinsATT n.439_441delinsATT c.729_731delinsATT c.*837_*839delinsATT (n.*837_*839delinsATT) c.*388_*390delinsATT (n.*388_*390delinsATT) c.*913_*915delinsATT (n.*913_*915delinsATT) c.723_725delinsATT c.1321_1323delinsATT (p.Asp441Ile) c.229_231delinsATT (p.Asp77Ile) c.211_213delinsATT (p.Asp71Ile) c.706_708delinsATT (p.Asp236Ile) n.1372_1374delinsATT | |
10 | g.87960894_87960896delinsCAA | CA891840152 | PTEN | c.895_897delinsCAA (p.Asp299Gln) c.802_804delinsCAA (p.Asp268Gln) n.1537_1539delinsCAA c.*632_*634delinsCAA (n.*632_*634delinsCAA) c.757_759delinsCAA (p.Asp253Gln) c.*141_*143delinsCAA (n.*141_*143delinsCAA) n.1960_1962delinsCAA n.2194_2196delinsCAA n.1571_1573delinsCAA n.439_441delinsCAA c.729_731delinsCAA c.*837_*839delinsCAA (n.*837_*839delinsCAA) c.*388_*390delinsCAA (n.*388_*390delinsCAA) c.*913_*915delinsCAA (n.*913_*915delinsCAA) c.723_725delinsCAA c.1321_1323delinsCAA (p.Asp441Gln) c.229_231delinsCAA (p.Asp77Gln) c.211_213delinsCAA (p.Asp71Gln) c.706_708delinsCAA (p.Asp236Gln) n.1372_1374delinsCAA | |
10 | g.87960894_87960896delinsCAT | CA891840149 | PTEN | c.895_897delinsCAT (p.Asp299His) c.802_804delinsCAT (p.Asp268His) n.1537_1539delinsCAT c.*632_*634delinsCAT (n.*632_*634delinsCAT) c.757_759delinsCAT (p.Asp253His) c.*141_*143delinsCAT (n.*141_*143delinsCAT) n.1960_1962delinsCAT n.2194_2196delinsCAT n.1571_1573delinsCAT n.439_441delinsCAT c.729_731delinsCAT c.*837_*839delinsCAT (n.*837_*839delinsCAT) c.*388_*390delinsCAT (n.*388_*390delinsCAT) c.*913_*915delinsCAT (n.*913_*915delinsCAT) c.723_725delinsCAT c.1321_1323delinsCAT (p.Asp441His) c.229_231delinsCAT (p.Asp77His) c.211_213delinsCAT (p.Asp71His) c.706_708delinsCAT (p.Asp236His) n.1372_1374delinsCAT | |
10 | g.87960894_87960896delinsCCA | CA891840150 | PTEN | c.895_897delinsCCA (p.Asp299Pro) c.802_804delinsCCA (p.Asp268Pro) n.1537_1539delinsCCA c.*632_*634delinsCCA (n.*632_*634delinsCCA) c.757_759delinsCCA (p.Asp253Pro) c.*141_*143delinsCCA (n.*141_*143delinsCCA) n.1960_1962delinsCCA n.2194_2196delinsCCA n.1571_1573delinsCCA n.439_441delinsCCA c.729_731delinsCCA c.*837_*839delinsCCA (n.*837_*839delinsCCA) c.*388_*390delinsCCA (n.*388_*390delinsCCA) c.*913_*915delinsCCA (n.*913_*915delinsCCA) c.723_725delinsCCA c.1321_1323delinsCCA (p.Asp441Pro) c.229_231delinsCCA (p.Asp77Pro) c.211_213delinsCCA (p.Asp71Pro) c.706_708delinsCCA (p.Asp236Pro) n.1372_1374delinsCCA | |
10 | g.87960894_87960896delinsTAA | CA891840147 | PTEN | c.895_897delinsTAA (p.Asp299Ter) c.802_804delinsTAA (p.Asp268Ter) n.1537_1539delinsTAA c.*632_*634delinsTAA (n.*632_*634delinsTAA) c.757_759delinsTAA (p.Asp253Ter) c.*141_*143delinsTAA (n.*141_*143delinsTAA) n.1960_1962delinsTAA n.2194_2196delinsTAA n.1571_1573delinsTAA n.439_441delinsTAA c.729_731delinsTAA c.*837_*839delinsTAA (n.*837_*839delinsTAA) c.*388_*390delinsTAA (n.*388_*390delinsTAA) c.*913_*915delinsTAA (n.*913_*915delinsTAA) c.723_725delinsTAA c.1321_1323delinsTAA (p.Asp441Ter) c.229_231delinsTAA (p.Asp77Ter) c.211_213delinsTAA (p.Asp71Ter) c.706_708delinsTAA (p.Asp236Ter) n.1372_1374delinsTAA | |
10 | g.87960894_87960896delinsTAT | CA891840161 | PTEN | c.895_897delinsTAT (p.Asp299Tyr) c.802_804delinsTAT (p.Asp268Tyr) n.1537_1539delinsTAT c.*632_*634delinsTAT (n.*632_*634delinsTAT) c.757_759delinsTAT (p.Asp253Tyr) c.*141_*143delinsTAT (n.*141_*143delinsTAT) n.1960_1962delinsTAT n.2194_2196delinsTAT n.1571_1573delinsTAT n.439_441delinsTAT c.729_731delinsTAT c.*837_*839delinsTAT (n.*837_*839delinsTAT) c.*388_*390delinsTAT (n.*388_*390delinsTAT) c.*913_*915delinsTAT (n.*913_*915delinsTAT) c.723_725delinsTAT c.1321_1323delinsTAT (p.Asp441Tyr) c.229_231delinsTAT (p.Asp77Tyr) c.211_213delinsTAT (p.Asp71Tyr) c.706_708delinsTAT (p.Asp236Tyr) n.1372_1374delinsTAT | |
10 | g.87960894_87960896delinsTCT | CA891840158 | PTEN | c.895_897delinsTCT (p.Asp299Ser) c.802_804delinsTCT (p.Asp268Ser) n.1537_1539delinsTCT c.*632_*634delinsTCT (n.*632_*634delinsTCT) c.757_759delinsTCT (p.Asp253Ser) c.*141_*143delinsTCT (n.*141_*143delinsTCT) n.1960_1962delinsTCT n.2194_2196delinsTCT n.1571_1573delinsTCT n.439_441delinsTCT c.729_731delinsTCT c.*837_*839delinsTCT (n.*837_*839delinsTCT) c.*388_*390delinsTCT (n.*388_*390delinsTCT) c.*913_*915delinsTCT (n.*913_*915delinsTCT) c.723_725delinsTCT c.1321_1323delinsTCT (p.Asp441Ser) c.229_231delinsTCT (p.Asp77Ser) c.211_213delinsTCT (p.Asp71Ser) c.706_708delinsTCT (p.Asp236Ser) n.1372_1374delinsTCT | |
10 | g.87960894_87960896delinsTGG | CA891840155 | PTEN | c.895_897delinsTGG (p.Asp299Trp) c.802_804delinsTGG (p.Asp268Trp) n.1537_1539delinsTGG c.*632_*634delinsTGG (n.*632_*634delinsTGG) c.757_759delinsTGG (p.Asp253Trp) c.*141_*143delinsTGG (n.*141_*143delinsTGG) n.1960_1962delinsTGG n.2194_2196delinsTGG n.1571_1573delinsTGG n.439_441delinsTGG c.729_731delinsTGG c.*837_*839delinsTGG (n.*837_*839delinsTGG) c.*388_*390delinsTGG (n.*388_*390delinsTGG) c.*913_*915delinsTGG (n.*913_*915delinsTGG) c.723_725delinsTGG c.1321_1323delinsTGG (p.Asp441Trp) c.229_231delinsTGG (p.Asp77Trp) c.211_213delinsTGG (p.Asp71Trp) c.706_708delinsTGG (p.Asp236Trp) n.1372_1374delinsTGG | |
10 | g.87960894_87960896delinsTGT | CA891840151 | PTEN | c.895_897delinsTGT (p.Asp299Cys) c.802_804delinsTGT (p.Asp268Cys) n.1537_1539delinsTGT c.*632_*634delinsTGT (n.*632_*634delinsTGT) c.757_759delinsTGT (p.Asp253Cys) c.*141_*143delinsTGT (n.*141_*143delinsTGT) n.1960_1962delinsTGT n.2194_2196delinsTGT n.1571_1573delinsTGT n.439_441delinsTGT c.729_731delinsTGT c.*837_*839delinsTGT (n.*837_*839delinsTGT) c.*388_*390delinsTGT (n.*388_*390delinsTGT) c.*913_*915delinsTGT (n.*913_*915delinsTGT) c.723_725delinsTGT c.1321_1323delinsTGT (p.Asp441Cys) c.229_231delinsTGT (p.Asp77Cys) c.211_213delinsTGT (p.Asp71Cys) c.706_708delinsTGT (p.Asp236Cys) n.1372_1374delinsTGT | |
10 | g.87960894_87960896delinsTTG | CA891840157 | PTEN | c.895_897delinsTTG (p.Asp299Leu) c.802_804delinsTTG (p.Asp268Leu) n.1537_1539delinsTTG c.*632_*634delinsTTG (n.*632_*634delinsTTG) c.757_759delinsTTG (p.Asp253Leu) c.*141_*143delinsTTG (n.*141_*143delinsTTG) n.1960_1962delinsTTG n.2194_2196delinsTTG n.1571_1573delinsTTG n.439_441delinsTTG c.729_731delinsTTG c.*837_*839delinsTTG (n.*837_*839delinsTTG) c.*388_*390delinsTTG (n.*388_*390delinsTTG) c.*913_*915delinsTTG (n.*913_*915delinsTTG) c.723_725delinsTTG c.1321_1323delinsTTG (p.Asp441Leu) c.229_231delinsTTG (p.Asp77Leu) c.211_213delinsTTG (p.Asp71Leu) c.706_708delinsTTG (p.Asp236Leu) n.1372_1374delinsTTG | |
10 | g.87960894_87960896delinsTTT | CA891840160 | PTEN | c.895_897delinsTTT (p.Asp299Phe) c.802_804delinsTTT (p.Asp268Phe) n.1537_1539delinsTTT c.*632_*634delinsTTT (n.*632_*634delinsTTT) c.757_759delinsTTT (p.Asp253Phe) c.*141_*143delinsTTT (n.*141_*143delinsTTT) n.1960_1962delinsTTT n.2194_2196delinsTTT n.1571_1573delinsTTT n.439_441delinsTTT c.729_731delinsTTT c.*837_*839delinsTTT (n.*837_*839delinsTTT) c.*388_*390delinsTTT (n.*388_*390delinsTTT) c.*913_*915delinsTTT (n.*913_*915delinsTTT) c.723_725delinsTTT c.1321_1323delinsTTT (p.Asp441Phe) c.229_231delinsTTT (p.Asp77Phe) c.211_213delinsTTT (p.Asp71Phe) c.706_708delinsTTT (p.Asp236Phe) n.1372_1374delinsTTT | |
10 | g.87960895_87960896delinsCT | CA891840164 | PTEN | c.896_897delinsCT (p.Asp299Ala) c.803_804delinsCT (p.Asp268Ala) n.1538_1539delinsCT c.*633_*634delinsCT (n.*633_*634delinsCT) c.758_759delinsCT (p.Asp253Ala) c.*142_*143delinsCT (n.*142_*143delinsCT) n.1961_1962delinsCT n.2195_2196delinsCT n.1572_1573delinsCT n.440_441delinsCT c.730_731delinsCT c.*838_*839delinsCT (n.*838_*839delinsCT) c.*389_*390delinsCT (n.*389_*390delinsCT) c.*914_*915delinsCT (n.*914_*915delinsCT) c.724_725delinsCT c.1322_1323delinsCT (p.Asp441Ala) c.230_231delinsCT (p.Asp77Ala) c.212_213delinsCT (p.Asp71Ala) c.707_708delinsCT (p.Asp236Ala) n.1373_1374delinsCT | |
10 | g.87960895_87960896delinsGT | CA891840162 | PTEN | c.896_897delinsGT (p.Asp299Gly) c.803_804delinsGT (p.Asp268Gly) n.1538_1539delinsGT c.*633_*634delinsGT (n.*633_*634delinsGT) c.758_759delinsGT (p.Asp253Gly) c.*142_*143delinsGT (n.*142_*143delinsGT) n.1961_1962delinsGT n.2195_2196delinsGT n.1572_1573delinsGT n.440_441delinsGT c.730_731delinsGT c.*838_*839delinsGT (n.*838_*839delinsGT) c.*389_*390delinsGT (n.*389_*390delinsGT) c.*914_*915delinsGT (n.*914_*915delinsGT) c.724_725delinsGT c.1322_1323delinsGT (p.Asp441Gly) c.230_231delinsGT (p.Asp77Gly) c.212_213delinsGT (p.Asp71Gly) c.707_708delinsGT (p.Asp236Gly) n.1373_1374delinsGT | |
10 | g.87960895_87960896delinsTT | CA891840163 | PTEN | c.896_897delinsTT (p.Asp299Val) c.803_804delinsTT (p.Asp268Val) n.1538_1539delinsTT c.*633_*634delinsTT (n.*633_*634delinsTT) c.758_759delinsTT (p.Asp253Val) c.*142_*143delinsTT (n.*142_*143delinsTT) n.1961_1962delinsTT n.2195_2196delinsTT n.1572_1573delinsTT n.440_441delinsTT c.730_731delinsTT c.*838_*839delinsTT (n.*838_*839delinsTT) c.*389_*390delinsTT (n.*389_*390delinsTT) c.*914_*915delinsTT (n.*914_*915delinsTT) c.724_725delinsTT c.1322_1323delinsTT (p.Asp441Val) c.230_231delinsTT (p.Asp77Val) c.212_213delinsTT (p.Asp71Val) c.707_708delinsTT (p.Asp236Val) n.1373_1374delinsTT | |
10 | g.87960898_87960923del | CA2695200893 | PTEN | c.899_924del (p.Lys300IlefsTer20) c.806_831del (p.Lys269IlefsTer20) n.1541_1566del c.*636_*661del (n.*636_*661del) c.761_786del (p.Lys254IlefsTer20) c.*145_*170del (n.*145_*170del) n.1964_1989del n.2198_2223del n.1575_1600del n.443_468del c.733_758del c.*841_*866del (n.*841_*866del) c.*392_*417del (n.*392_*417del) c.*917_*942del (n.*917_*942del) c.727_752del c.1325_1350del (p.Lys442IlefsTer20) c.233_258del (p.Lys78IlefsTer20) c.215_240del (p.Lys72IlefsTer20) c.710_735del (p.Lys237IlefsTer20) n.1376_1401del | ClinVar |
10 | g.87960896C>A | CA000596 | PTEN | c.897C>A (p.Asp299Glu) c.804C>A (p.Asp268Glu) n.1539C>A c.*634C>A (n.*634C>A) c.759C>A (p.Asp253Glu) c.*143C>A (n.*143C>A) n.1962C>A n.2196C>A n.1573C>A n.441C>A c.731C>A c.*839C>A (n.*839C>A) c.*390C>A (n.*390C>A) c.*915C>A (n.*915C>A) c.725C>A c.1323C>A (p.Asp441Glu) c.231C>A (p.Asp77Glu) c.213C>A (p.Asp71Glu) c.708C>A (p.Asp236Glu) n.1374C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.87960896C= | CA1926189941 | PTEN | c.897C= (p.Asp299=) c.804C= (p.Asp268=) n.1539C= c.*634C= (n.*634C=) c.759C= (p.Asp253=) c.*143C= (n.*143C=) n.1962C= n.2196C= n.1573C= n.441C= c.731C= c.*839C= (n.*839C=) c.*390C= (n.*390C=) c.*915C= (n.*915C=) c.725C= c.1323C= (p.Asp441=) c.231C= (p.Asp77=) c.213C= (p.Asp71=) c.708C= (p.Asp236=) n.1374C= | |
10 | g.87960896C>G | CA377485418 | PTEN | c.897C>G (p.Asp299Glu) c.804C>G (p.Asp268Glu) n.1539C>G c.*634C>G (n.*634C>G) c.759C>G (p.Asp253Glu) c.*143C>G (n.*143C>G) n.1962C>G n.2196C>G n.1573C>G n.441C>G c.731C>G c.*839C>G (n.*839C>G) c.*390C>G (n.*390C>G) c.*915C>G (n.*915C>G) c.725C>G c.1323C>G (p.Asp441Glu) c.231C>G (p.Asp77Glu) c.213C>G (p.Asp71Glu) c.708C>G (p.Asp236Glu) n.1374C>G | ClinVar dbSNP |
10 | g.87960896C>T | CA470973891 | PTEN | c.897C>T (p.Asp299=) c.804C>T (p.Asp268=) n.1539C>T c.*634C>T (n.*634C>T) c.759C>T (p.Asp253=) c.*143C>T (n.*143C>T) n.1962C>T n.2196C>T n.1573C>T n.441C>T c.731C>T c.*839C>T (n.*839C>T) c.*390C>T (n.*390C>T) c.*915C>T (n.*915C>T) c.725C>T c.1323C>T (p.Asp441=) c.231C>T (p.Asp77=) c.213C>T (p.Asp71=) c.708C>T (p.Asp236=) n.1374C>T | ClinVar gnomAD v3 gnomAD v4 |
10 | g.87960896_87960897insTTTTT | CA930924192 | PTEN | c.897_898insTTTTT (p.Lys300PhefsTer9) c.804_805insTTTTT (p.Lys269PhefsTer9) n.1539_1540insTTTTT c.*634_*635insTTTTT (n.*634_*635insTTTTT) c.759_760insTTTTT (p.Lys254PhefsTer9) c.*143_*144insTTTTT (n.*143_*144insTTTTT) n.1962_1963insTTTTT n.2196_2197insTTTTT n.1573_1574insTTTTT n.441_442insTTTTT c.731_732insTTTTT c.*839_*840insTTTTT (n.*839_*840insTTTTT) c.*390_*391insTTTTT (n.*390_*391insTTTTT) c.*915_*916insTTTTT (n.*915_*916insTTTTT) c.725_726insTTTTT c.1323_1324insTTTTT (p.Lys442PhefsTer9) c.231_232insTTTTT (p.Lys78PhefsTer9) c.213_214insTTTTT (p.Lys72PhefsTer9) c.708_709insTTTTT (p.Lys237PhefsTer9) n.1374_1375insTTTTT | gnomAD v3 gnomAD v4 |
10 | g.87960897A= | CA1926189942 | PTEN | c.898A= (p.Lys300=) c.805A= (p.Lys269=) n.1540A= c.*635A= (n.*635A=) c.760A= (p.Lys254=) c.*144A= (n.*144A=) n.1963A= n.2197A= n.1574A= n.442A= c.732A= c.*840A= (n.*840A=) c.*391A= (n.*391A=) c.*916A= (n.*916A=) c.726A= c.1324A= (p.Lys442=) c.232A= (p.Lys78=) c.214A= (p.Lys72=) c.709A= (p.Lys237=) n.1375A= | |
10 | g.87960897A>C | CA377485419 | PTEN | c.898A>C (p.Lys300Gln) c.805A>C (p.Lys269Gln) n.1540A>C c.*635A>C (n.*635A>C) c.760A>C (p.Lys254Gln) c.*144A>C (n.*144A>C) n.1963A>C n.2197A>C n.1574A>C n.442A>C c.732A>C c.*840A>C (n.*840A>C) c.*391A>C (n.*391A>C) c.*916A>C (n.*916A>C) c.726A>C c.1324A>C (p.Lys442Gln) c.232A>C (p.Lys78Gln) c.214A>C (p.Lys72Gln) c.709A>C (p.Lys237Gln) n.1375A>C | |
10 | g.87960897A>G | CA377485423 | PTEN | c.898A>G (p.Lys300Glu) c.805A>G (p.Lys269Glu) n.1540A>G c.*635A>G (n.*635A>G) c.760A>G (p.Lys254Glu) c.*144A>G (n.*144A>G) n.1963A>G n.2197A>G n.1574A>G n.442A>G c.732A>G c.*840A>G (n.*840A>G) c.*391A>G (n.*391A>G) c.*916A>G (n.*916A>G) c.726A>G c.1324A>G (p.Lys442Glu) c.232A>G (p.Lys78Glu) c.214A>G (p.Lys72Glu) c.709A>G (p.Lys237Glu) n.1375A>G | ClinVar dbSNP |
10 | g.87960897A>T | CA377485421 | PTEN | c.898A>T (p.Lys300Ter) c.805A>T (p.Lys269Ter) n.1540A>T c.*635A>T (n.*635A>T) c.760A>T (p.Lys254Ter) c.*144A>T (n.*144A>T) n.1963A>T n.2197A>T n.1574A>T n.442A>T c.732A>T c.*840A>T (n.*840A>T) c.*391A>T (n.*391A>T) c.*916A>T (n.*916A>T) c.726A>T c.1324A>T (p.Lys442Ter) c.232A>T (p.Lys78Ter) c.214A>T (p.Lys72Ter) c.709A>T (p.Lys237Ter) n.1375A>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
10 | g.87960897_87960898delinsCC | CA891840980 | PTEN | c.898_899delinsCC (p.Lys300Pro) c.805_806delinsCC (p.Lys269Pro) n.1540_1541delinsCC c.*635_*636delinsCC (n.*635_*636delinsCC) c.760_761delinsCC (p.Lys254Pro) c.*144_*145delinsCC (n.*144_*145delinsCC) n.1963_1964delinsCC n.2197_2198delinsCC n.1574_1575delinsCC n.442_443delinsCC c.732_733delinsCC c.*840_*841delinsCC (n.*840_*841delinsCC) c.*391_*392delinsCC (n.*391_*392delinsCC) c.*916_*917delinsCC (n.*916_*917delinsCC) c.726_727delinsCC c.1324_1325delinsCC (p.Lys442Pro) c.232_233delinsCC (p.Lys78Pro) c.214_215delinsCC (p.Lys72Pro) c.709_710delinsCC (p.Lys237Pro) n.1375_1376delinsCC | |
10 | g.87960897_87960898delinsGC | CA891840983 | PTEN | c.898_899delinsGC (p.Lys300Ala) c.805_806delinsGC (p.Lys269Ala) n.1540_1541delinsGC c.*635_*636delinsGC (n.*635_*636delinsGC) c.760_761delinsGC (p.Lys254Ala) c.*144_*145delinsGC (n.*144_*145delinsGC) n.1963_1964delinsGC n.2197_2198delinsGC n.1574_1575delinsGC n.442_443delinsGC c.732_733delinsGC c.*840_*841delinsGC (n.*840_*841delinsGC) c.*391_*392delinsGC (n.*391_*392delinsGC) c.*916_*917delinsGC (n.*916_*917delinsGC) c.726_727delinsGC c.1324_1325delinsGC (p.Lys442Ala) c.232_233delinsGC (p.Lys78Ala) c.214_215delinsGC (p.Lys72Ala) c.709_710delinsGC (p.Lys237Ala) n.1375_1376delinsGC |