Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.87960912_87961115del | CA645554082 | PTEN | c.913_1116del (p.Trp305_Phe372del) c.820_1023del (p.Trp274_Phe341del) n.1555_1758del c.*650_*853del (n.*650_*853del) c.775_978del (p.Trp259_Phe326del) c.*159_*362del (n.*159_*362del) n.1978_2181del n.2212_2415del n.1589_1792del n.457_660del c.*855_*1058del (n.*855_*1058del) c.*406_*609del (n.*406_*609del) c.*931_*1134del (n.*931_*1134del) c.741_944del c.1339_1542del (p.Trp447_Phe514del) c.247_450del (p.Trp83_Phe150del) c.229_432del (p.Trp77_Phe144del) c.724_927del (p.Trp242_Phe309del) n.1390_1593del | COSMIC |
10 | g.87960969_87961015dup | CA2695200903 | PTEN | c.970_1016dup (p.Ala340GlufsTer14) c.877_923dup (p.Ala309GlufsTer14) n.1612_1658dup c.*707_*753dup (n.*707_*753dup) c.832_878dup (p.Ala294GlufsTer14) c.*216_*262dup (n.*216_*262dup) n.2035_2081dup n.2269_2315dup n.1646_1692dup n.514_560dup c.*912_*958dup (n.*912_*958dup) c.*463_*509dup (n.*463_*509dup) c.*988_*1034dup (n.*988_*1034dup) c.798_844dup c.1396_1442dup (p.Ala482GlufsTer14) c.304_350dup (p.Ala118GlufsTer14) c.286_332dup (p.Ala112GlufsTer14) c.781_827dup (p.Ala277GlufsTer14) n.1447_1493dup | ClinVar |
10 | g.87960978_87960996del | CA2740089959 | PTEN | c.979_997del (p.Cys327AlafsTer5) c.886_904del (p.Cys296AlafsTer5) n.1621_1639del c.*716_*734del (n.*716_*734del) c.841_859del (p.Cys281AlafsTer5) c.*225_*243del (n.*225_*243del) n.2044_2062del n.2278_2296del n.1655_1673del n.523_541del c.*921_*939del (n.*921_*939del) c.*472_*490del (n.*472_*490del) c.*997_*1015del (n.*997_*1015del) c.807_825del c.1405_1423del (p.Cys469AlafsTer5) c.313_331del (p.Cys105AlafsTer5) c.295_313del (p.Cys99AlafsTer5) c.790_808del (p.Cys264AlafsTer5) n.1456_1474del | |
10 | g.87960990_87961008del | CA645554095 | PTEN | c.991_1009del (p.Ile331Ter) c.898_916del (p.Ile300Ter) n.1633_1651del c.*728_*746del (n.*728_*746del) c.853_871del (p.Ile285Ter) c.*237_*255del (n.*237_*255del) n.2056_2074del n.2290_2308del n.1667_1685del n.535_553del c.*933_*951del (n.*933_*951del) c.*484_*502del (n.*484_*502del) c.*1009_*1027del (n.*1009_*1027del) c.819_837del c.1417_1435del (p.Ile473Ter) c.325_343del (p.Ile109Ter) c.307_325del (p.Ile103Ter) c.802_820del (p.Ile268Ter) n.1468_1486del | COSMIC |
10 | g.87960990_87960995delinsATCGAT | CA1926190022 | PTEN | c.991_996delinsATCGAT (p.Ile331=) c.898_903delinsATCGAT (p.Ile300=) n.1633_1638delinsATCGAT c.*728_*733delinsATCGAT (n.*728_*733delinsATCGAT) c.853_858delinsATCGAT (p.Ile285=) c.*237_*242delinsATCGAT (n.*237_*242delinsATCGAT) n.2056_2061delinsATCGAT n.2290_2295delinsATCGAT n.1667_1672delinsATCGAT n.535_540delinsATCGAT c.*933_*938delinsATCGAT (n.*933_*938delinsATCGAT) c.*484_*489delinsATCGAT (n.*484_*489delinsATCGAT) c.*1009_*1014delinsATCGAT (n.*1009_*1014delinsATCGAT) c.819_824delinsATCGAT c.1417_1422delinsATCGAT (p.Ile473=) c.325_330delinsATCGAT (p.Ile109=) c.307_312delinsATCGAT (p.Ile103=) c.802_807delinsATCGAT (p.Ile268=) n.1468_1473delinsATCGAT | |
10 | g.87960991_87960995del | CA16619065 | PTEN | c.992_996del (p.Ile331LysfsTer10) c.899_903del (p.Ile300LysfsTer10) n.1634_1638del c.*729_*733del (n.*729_*733del) c.854_858del (p.Ile285LysfsTer10) c.*238_*242del (n.*238_*242del) n.2057_2061del n.2291_2295del n.1668_1672del n.536_540del c.*934_*938del (n.*934_*938del) c.*485_*489del (n.*485_*489del) c.*1010_*1014del (n.*1010_*1014del) c.820_824del c.1418_1422del (p.Ile473LysfsTer10) c.326_330del (p.Ile109LysfsTer10) c.308_312del (p.Ile103LysfsTer10) c.803_807del (p.Ile268LysfsTer10) n.1469_1473del | ClinVar dbSNP |
10 | g.87960993_87960995del | CA2579926746 | PTEN | c.994_996del (p.Asp332del) c.901_903del (p.Asp301del) n.1636_1638del c.*731_*733del (n.*731_*733del) c.856_858del (p.Asp286del) c.*240_*242del (n.*240_*242del) n.2059_2061del n.2293_2295del n.1670_1672del n.538_540del c.*936_*938del (n.*936_*938del) c.*487_*489del (n.*487_*489del) c.*1012_*1014del (n.*1012_*1014del) c.822_824del c.1420_1422del (p.Asp474del) c.328_330del (p.Asp110del) c.310_312del (p.Asp104del) c.805_807del (p.Asp269del) n.1471_1473del | |
10 | g.87960993_87960995delinsAAA | CA891835750 | PTEN | c.994_996delinsAAA (p.Asp332Lys) c.901_903delinsAAA (p.Asp301Lys) n.1636_1638delinsAAA c.*731_*733delinsAAA (n.*731_*733delinsAAA) c.856_858delinsAAA (p.Asp286Lys) c.*240_*242delinsAAA (n.*240_*242delinsAAA) n.2059_2061delinsAAA n.2293_2295delinsAAA n.1670_1672delinsAAA n.538_540delinsAAA c.*936_*938delinsAAA (n.*936_*938delinsAAA) c.*487_*489delinsAAA (n.*487_*489delinsAAA) c.*1012_*1014delinsAAA (n.*1012_*1014delinsAAA) c.822_824delinsAAA c.1420_1422delinsAAA (p.Asp474Lys) c.328_330delinsAAA (p.Asp110Lys) c.310_312delinsAAA (p.Asp104Lys) c.805_807delinsAAA (p.Asp269Lys) n.1471_1473delinsAAA | |
10 | g.87960993_87960995delinsAGA | CA891835752 | PTEN | c.994_996delinsAGA (p.Asp332Arg) c.901_903delinsAGA (p.Asp301Arg) n.1636_1638delinsAGA c.*731_*733delinsAGA (n.*731_*733delinsAGA) c.856_858delinsAGA (p.Asp286Arg) c.*240_*242delinsAGA (n.*240_*242delinsAGA) n.2059_2061delinsAGA n.2293_2295delinsAGA n.1670_1672delinsAGA n.538_540delinsAGA c.*936_*938delinsAGA (n.*936_*938delinsAGA) c.*487_*489delinsAGA (n.*487_*489delinsAGA) c.*1012_*1014delinsAGA (n.*1012_*1014delinsAGA) c.822_824delinsAGA c.1420_1422delinsAGA (p.Asp474Arg) c.328_330delinsAGA (p.Asp110Arg) c.310_312delinsAGA (p.Asp104Arg) c.805_807delinsAGA (p.Asp269Arg) n.1471_1473delinsAGA | |
10 | g.87960993_87960995delinsATG | CA891835772 | PTEN | c.994_996delinsATG (p.Asp332Met) c.901_903delinsATG (p.Asp301Met) n.1636_1638delinsATG c.*731_*733delinsATG (n.*731_*733delinsATG) c.856_858delinsATG (p.Asp286Met) c.*240_*242delinsATG (n.*240_*242delinsATG) n.2059_2061delinsATG n.2293_2295delinsATG n.1670_1672delinsATG n.538_540delinsATG c.*936_*938delinsATG (n.*936_*938delinsATG) c.*487_*489delinsATG (n.*487_*489delinsATG) c.*1012_*1014delinsATG (n.*1012_*1014delinsATG) c.822_824delinsATG c.1420_1422delinsATG (p.Asp474Met) c.328_330delinsATG (p.Asp110Met) c.310_312delinsATG (p.Asp104Met) c.805_807delinsATG (p.Asp269Met) n.1471_1473delinsATG | |
10 | g.87960993_87960995delinsCAA | CA891835761 | PTEN | c.994_996delinsCAA (p.Asp332Gln) c.901_903delinsCAA (p.Asp301Gln) n.1636_1638delinsCAA c.*731_*733delinsCAA (n.*731_*733delinsCAA) c.856_858delinsCAA (p.Asp286Gln) c.*240_*242delinsCAA (n.*240_*242delinsCAA) n.2059_2061delinsCAA n.2293_2295delinsCAA n.1670_1672delinsCAA n.538_540delinsCAA c.*936_*938delinsCAA (n.*936_*938delinsCAA) c.*487_*489delinsCAA (n.*487_*489delinsCAA) c.*1012_*1014delinsCAA (n.*1012_*1014delinsCAA) c.822_824delinsCAA c.1420_1422delinsCAA (p.Asp474Gln) c.328_330delinsCAA (p.Asp110Gln) c.310_312delinsCAA (p.Asp104Gln) c.805_807delinsCAA (p.Asp269Gln) n.1471_1473delinsCAA | |
10 | g.87960993_87960995delinsCCA | CA891835754 | PTEN | c.994_996delinsCCA (p.Asp332Pro) c.901_903delinsCCA (p.Asp301Pro) n.1636_1638delinsCCA c.*731_*733delinsCCA (n.*731_*733delinsCCA) c.856_858delinsCCA (p.Asp286Pro) c.*240_*242delinsCCA (n.*240_*242delinsCCA) n.2059_2061delinsCCA n.2293_2295delinsCCA n.1670_1672delinsCCA n.538_540delinsCCA c.*936_*938delinsCCA (n.*936_*938delinsCCA) c.*487_*489delinsCCA (n.*487_*489delinsCCA) c.*1012_*1014delinsCCA (n.*1012_*1014delinsCCA) c.822_824delinsCCA c.1420_1422delinsCCA (p.Asp474Pro) c.328_330delinsCCA (p.Asp110Pro) c.310_312delinsCCA (p.Asp104Pro) c.805_807delinsCCA (p.Asp269Pro) n.1471_1473delinsCCA | |
10 | g.87960993_87960995delinsTAA | CA891835747 | PTEN | c.994_996delinsTAA (p.Asp332Ter) c.901_903delinsTAA (p.Asp301Ter) n.1636_1638delinsTAA c.*731_*733delinsTAA (n.*731_*733delinsTAA) c.856_858delinsTAA (p.Asp286Ter) c.*240_*242delinsTAA (n.*240_*242delinsTAA) n.2059_2061delinsTAA n.2293_2295delinsTAA n.1670_1672delinsTAA n.538_540delinsTAA c.*936_*938delinsTAA (n.*936_*938delinsTAA) c.*487_*489delinsTAA (n.*487_*489delinsTAA) c.*1012_*1014delinsTAA (n.*1012_*1014delinsTAA) c.822_824delinsTAA c.1420_1422delinsTAA (p.Asp474Ter) c.328_330delinsTAA (p.Asp110Ter) c.310_312delinsTAA (p.Asp104Ter) c.805_807delinsTAA (p.Asp269Ter) n.1471_1473delinsTAA | |
10 | g.87960993_87960995delinsTGG | CA891835770 | PTEN | c.994_996delinsTGG (p.Asp332Trp) c.901_903delinsTGG (p.Asp301Trp) n.1636_1638delinsTGG c.*731_*733delinsTGG (n.*731_*733delinsTGG) c.856_858delinsTGG (p.Asp286Trp) c.*240_*242delinsTGG (n.*240_*242delinsTGG) n.2059_2061delinsTGG n.2293_2295delinsTGG n.1670_1672delinsTGG n.538_540delinsTGG c.*936_*938delinsTGG (n.*936_*938delinsTGG) c.*487_*489delinsTGG (n.*487_*489delinsTGG) c.*1012_*1014delinsTGG (n.*1012_*1014delinsTGG) c.822_824delinsTGG c.1420_1422delinsTGG (p.Asp474Trp) c.328_330delinsTGG (p.Asp110Trp) c.310_312delinsTGG (p.Asp104Trp) c.805_807delinsTGG (p.Asp269Trp) n.1471_1473delinsTGG | |
10 | g.87960993_87960995delinsTTG | CA891835774 | PTEN | c.994_996delinsTTG (p.Asp332Leu) c.901_903delinsTTG (p.Asp301Leu) n.1636_1638delinsTTG c.*731_*733delinsTTG (n.*731_*733delinsTTG) c.856_858delinsTTG (p.Asp286Leu) c.*240_*242delinsTTG (n.*240_*242delinsTTG) n.2059_2061delinsTTG n.2293_2295delinsTTG n.1670_1672delinsTTG n.538_540delinsTTG c.*936_*938delinsTTG (n.*936_*938delinsTTG) c.*487_*489delinsTTG (n.*487_*489delinsTTG) c.*1012_*1014delinsTTG (n.*1012_*1014delinsTTG) c.822_824delinsTTG c.1420_1422delinsTTG (p.Asp474Leu) c.328_330delinsTTG (p.Asp110Leu) c.310_312delinsTTG (p.Asp104Leu) c.805_807delinsTTG (p.Asp269Leu) n.1471_1473delinsTTG | |
10 | g.87960996_87961000del | CA645554096 | PTEN | c.997_1001del (p.Ser333LeufsTer8) c.904_908del (p.Ser302LeufsTer8) n.1639_1643del c.*734_*738del (n.*734_*738del) c.859_863del (p.Ser287LeufsTer8) c.*243_*247del (n.*243_*247del) n.2062_2066del n.2296_2300del n.1673_1677del n.541_545del c.*939_*943del (n.*939_*943del) c.*490_*494del (n.*490_*494del) c.*1015_*1019del (n.*1015_*1019del) c.825_829del c.1423_1427del (p.Ser475LeufsTer8) c.331_335del (p.Ser111LeufsTer8) c.313_317del (p.Ser105LeufsTer8) c.808_812del (p.Ser270LeufsTer8) n.1474_1478del | COSMIC |
10 | g.87960995T>A | CA377485791 | PTEN | c.996T>A (p.Asp332Glu) c.903T>A (p.Asp301Glu) n.1638T>A c.*733T>A (n.*733T>A) c.858T>A (p.Asp286Glu) c.*242T>A (n.*242T>A) n.2061T>A n.2295T>A n.1672T>A n.540T>A c.*938T>A (n.*938T>A) c.*489T>A (n.*489T>A) c.*1014T>A (n.*1014T>A) c.824T>A c.1422T>A (p.Asp474Glu) c.330T>A (p.Asp110Glu) c.312T>A (p.Asp104Glu) c.807T>A (p.Asp269Glu) n.1473T>A | dbSNP |
10 | g.87960995T>C | CA470973982 | PTEN | c.996T>C (p.Asp332=) c.903T>C (p.Asp301=) n.1638T>C c.*733T>C (n.*733T>C) c.858T>C (p.Asp286=) c.*242T>C (n.*242T>C) n.2061T>C n.2295T>C n.1672T>C n.540T>C c.*938T>C (n.*938T>C) c.*489T>C (n.*489T>C) c.*1014T>C (n.*1014T>C) c.824T>C c.1422T>C (p.Asp474=) c.330T>C (p.Asp110=) c.312T>C (p.Asp104=) c.807T>C (p.Asp269=) n.1473T>C | ClinVar dbSNP |
10 | g.87960995T>G | CA377485793 | PTEN | c.996T>G (p.Asp332Glu) c.903T>G (p.Asp301Glu) n.1638T>G c.*733T>G (n.*733T>G) c.858T>G (p.Asp286Glu) c.*242T>G (n.*242T>G) n.2061T>G n.2295T>G n.1672T>G n.540T>G c.*938T>G (n.*938T>G) c.*489T>G (n.*489T>G) c.*1014T>G (n.*1014T>G) c.824T>G c.1422T>G (p.Asp474Glu) c.330T>G (p.Asp110Glu) c.312T>G (p.Asp104Glu) c.807T>G (p.Asp269Glu) n.1473T>G | dbSNP |
10 | g.87960996_87961002del | CA2695200907 | PTEN | c.997_1003del (p.Ser333AlafsTer3) c.904_910del (p.Ser302AlafsTer3) n.1639_1645del c.*734_*740del (n.*734_*740del) c.859_865del (p.Ser287AlafsTer3) c.*243_*249del (n.*243_*249del) n.2062_2068del n.2296_2302del n.1673_1679del n.541_547del c.*939_*945del (n.*939_*945del) c.*490_*496del (n.*490_*496del) c.*1015_*1021del (n.*1015_*1021del) c.825_831del c.1423_1429del (p.Ser475AlafsTer3) c.331_337del (p.Ser111AlafsTer3) c.313_319del (p.Ser105AlafsTer3) c.808_814del (p.Ser270AlafsTer3) n.1474_1480del | ClinVar |
10 | g.87960996A= | CA1926190026 | PTEN | c.997A= (p.Ser333=) c.904A= (p.Ser302=) n.1639A= c.*734A= (n.*734A=) c.859A= (p.Ser287=) c.*243A= (n.*243A=) n.2062A= n.2296A= n.1673A= n.541A= c.*939A= (n.*939A=) c.*490A= (n.*490A=) c.*1015A= (n.*1015A=) c.825A= c.1423A= (p.Ser475=) c.331A= (p.Ser111=) c.313A= (p.Ser105=) c.808A= (p.Ser270=) n.1474A= | |
10 | g.87960996A>C | CA377485794 | PTEN | c.997A>C (p.Ser333Arg) c.904A>C (p.Ser302Arg) n.1639A>C c.*734A>C (n.*734A>C) c.859A>C (p.Ser287Arg) c.*243A>C (n.*243A>C) n.2062A>C n.2296A>C n.1673A>C n.541A>C c.*939A>C (n.*939A>C) c.*490A>C (n.*490A>C) c.*1015A>C (n.*1015A>C) c.825A>C c.1423A>C (p.Ser475Arg) c.331A>C (p.Ser111Arg) c.313A>C (p.Ser105Arg) c.808A>C (p.Ser270Arg) n.1474A>C | |
10 | g.87960996A>G | CA377485795 | PTEN | c.997A>G (p.Ser333Gly) c.904A>G (p.Ser302Gly) n.1639A>G c.*734A>G (n.*734A>G) c.859A>G (p.Ser287Gly) c.*243A>G (n.*243A>G) n.2062A>G n.2296A>G n.1673A>G n.541A>G c.*939A>G (n.*939A>G) c.*490A>G (n.*490A>G) c.*1015A>G (n.*1015A>G) c.825A>G c.1423A>G (p.Ser475Gly) c.331A>G (p.Ser111Gly) c.313A>G (p.Ser105Gly) c.808A>G (p.Ser270Gly) n.1474A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.87960996A>T | CA377485797 | PTEN | c.997A>T (p.Ser333Cys) c.904A>T (p.Ser302Cys) n.1639A>T c.*734A>T (n.*734A>T) c.859A>T (p.Ser287Cys) c.*243A>T (n.*243A>T) n.2062A>T n.2296A>T n.1673A>T n.541A>T c.*939A>T (n.*939A>T) c.*490A>T (n.*490A>T) c.*1015A>T (n.*1015A>T) c.825A>T c.1423A>T (p.Ser475Cys) c.331A>T (p.Ser111Cys) c.313A>T (p.Ser105Cys) c.808A>T (p.Ser270Cys) n.1474A>T | dbSNP |
10 | g.87960996_87960998delinsAGC | CA891841182 | PTEN | c.997_999delinsAGC (p.Ser333=) c.904_906delinsAGC (p.Ser302=) n.1639_1641delinsAGC c.*734_*736delinsAGC (n.*734_*736delinsAGC) c.859_861delinsAGC (p.Ser287=) c.*243_*245delinsAGC (n.*243_*245delinsAGC) n.2062_2064delinsAGC n.2296_2298delinsAGC n.1673_1675delinsAGC n.541_543delinsAGC c.*939_*941delinsAGC (n.*939_*941delinsAGC) c.*490_*492delinsAGC (n.*490_*492delinsAGC) c.*1015_*1017delinsAGC (n.*1015_*1017delinsAGC) c.825_827delinsAGC c.1423_1425delinsAGC (p.Ser475=) c.331_333delinsAGC (p.Ser111=) c.313_315delinsAGC (p.Ser105=) c.808_810delinsAGC (p.Ser270=) n.1474_1476delinsAGC | |
10 | g.87960996_87960998delinsCAA | CA891835794 | PTEN | c.997_999delinsCAA (p.Ser333Gln) c.904_906delinsCAA (p.Ser302Gln) n.1639_1641delinsCAA c.*734_*736delinsCAA (n.*734_*736delinsCAA) c.859_861delinsCAA (p.Ser287Gln) c.*243_*245delinsCAA (n.*243_*245delinsCAA) n.2062_2064delinsCAA n.2296_2298delinsCAA n.1673_1675delinsCAA n.541_543delinsCAA c.*939_*941delinsCAA (n.*939_*941delinsCAA) c.*490_*492delinsCAA (n.*490_*492delinsCAA) c.*1015_*1017delinsCAA (n.*1015_*1017delinsCAA) c.825_827delinsCAA c.1423_1425delinsCAA (p.Ser475Gln) c.331_333delinsCAA (p.Ser111Gln) c.313_315delinsCAA (p.Ser105Gln) c.808_810delinsCAA (p.Ser270Gln) n.1474_1476delinsCAA | |
10 | g.87960996_87960998delinsCAT | CA891835802 | PTEN | c.997_999delinsCAT (p.Ser333His) c.904_906delinsCAT (p.Ser302His) n.1639_1641delinsCAT c.*734_*736delinsCAT (n.*734_*736delinsCAT) c.859_861delinsCAT (p.Ser287His) c.*243_*245delinsCAT (n.*243_*245delinsCAT) n.2062_2064delinsCAT n.2296_2298delinsCAT n.1673_1675delinsCAT n.541_543delinsCAT c.*939_*941delinsCAT (n.*939_*941delinsCAT) c.*490_*492delinsCAT (n.*490_*492delinsCAT) c.*1015_*1017delinsCAT (n.*1015_*1017delinsCAT) c.825_827delinsCAT c.1423_1425delinsCAT (p.Ser475His) c.331_333delinsCAT (p.Ser111His) c.313_315delinsCAT (p.Ser105His) c.808_810delinsCAT (p.Ser270His) n.1474_1476delinsCAT | |
10 | g.87960996_87960998delinsCCA | CA891835810 | PTEN | c.997_999delinsCCA (p.Ser333Pro) c.904_906delinsCCA (p.Ser302Pro) n.1639_1641delinsCCA c.*734_*736delinsCCA (n.*734_*736delinsCCA) c.859_861delinsCCA (p.Ser287Pro) c.*243_*245delinsCCA (n.*243_*245delinsCCA) n.2062_2064delinsCCA n.2296_2298delinsCCA n.1673_1675delinsCCA n.541_543delinsCCA c.*939_*941delinsCCA (n.*939_*941delinsCCA) c.*490_*492delinsCCA (n.*490_*492delinsCCA) c.*1015_*1017delinsCCA (n.*1015_*1017delinsCCA) c.825_827delinsCCA c.1423_1425delinsCCA (p.Ser475Pro) c.331_333delinsCCA (p.Ser111Pro) c.313_315delinsCCA (p.Ser105Pro) c.808_810delinsCCA (p.Ser270Pro) n.1474_1476delinsCCA | |
10 | g.87960996_87960998delinsGAA | CA891835797 | PTEN | c.997_999delinsGAA (p.Ser333Glu) c.904_906delinsGAA (p.Ser302Glu) n.1639_1641delinsGAA c.*734_*736delinsGAA (n.*734_*736delinsGAA) c.859_861delinsGAA (p.Ser287Glu) c.*243_*245delinsGAA (n.*243_*245delinsGAA) n.2062_2064delinsGAA n.2296_2298delinsGAA n.1673_1675delinsGAA n.541_543delinsGAA c.*939_*941delinsGAA (n.*939_*941delinsGAA) c.*490_*492delinsGAA (n.*490_*492delinsGAA) c.*1015_*1017delinsGAA (n.*1015_*1017delinsGAA) c.825_827delinsGAA c.1423_1425delinsGAA (p.Ser475Glu) c.331_333delinsGAA (p.Ser111Glu) c.313_315delinsGAA (p.Ser105Glu) c.808_810delinsGAA (p.Ser270Glu) n.1474_1476delinsGAA | |
10 | g.87960996_87960998delinsGAT | CA891835799 | PTEN | c.997_999delinsGAT (p.Ser333Asp) c.904_906delinsGAT (p.Ser302Asp) n.1639_1641delinsGAT c.*734_*736delinsGAT (n.*734_*736delinsGAT) c.859_861delinsGAT (p.Ser287Asp) c.*243_*245delinsGAT (n.*243_*245delinsGAT) n.2062_2064delinsGAT n.2296_2298delinsGAT n.1673_1675delinsGAT n.541_543delinsGAT c.*939_*941delinsGAT (n.*939_*941delinsGAT) c.*490_*492delinsGAT (n.*490_*492delinsGAT) c.*1015_*1017delinsGAT (n.*1015_*1017delinsGAT) c.825_827delinsGAT c.1423_1425delinsGAT (p.Ser475Asp) c.331_333delinsGAT (p.Ser111Asp) c.313_315delinsGAT (p.Ser105Asp) c.808_810delinsGAT (p.Ser270Asp) n.1474_1476delinsGAT | |
10 | g.87960996_87960998delinsGCT | CA891835809 | PTEN | c.997_999delinsGCT (p.Ser333Ala) c.904_906delinsGCT (p.Ser302Ala) n.1639_1641delinsGCT c.*734_*736delinsGCT (n.*734_*736delinsGCT) c.859_861delinsGCT (p.Ser287Ala) c.*243_*245delinsGCT (n.*243_*245delinsGCT) n.2062_2064delinsGCT n.2296_2298delinsGCT n.1673_1675delinsGCT n.541_543delinsGCT c.*939_*941delinsGCT (n.*939_*941delinsGCT) c.*490_*492delinsGCT (n.*490_*492delinsGCT) c.*1015_*1017delinsGCT (n.*1015_*1017delinsGCT) c.825_827delinsGCT c.1423_1425delinsGCT (p.Ser475Ala) c.331_333delinsGCT (p.Ser111Ala) c.313_315delinsGCT (p.Ser105Ala) c.808_810delinsGCT (p.Ser270Ala) n.1474_1476delinsGCT | |
10 | g.87960996_87960998delinsGGT | CA891835811 | PTEN | c.997_999delinsGGT (p.Ser333Gly) c.904_906delinsGGT (p.Ser302Gly) n.1639_1641delinsGGT c.*734_*736delinsGGT (n.*734_*736delinsGGT) c.859_861delinsGGT (p.Ser287Gly) c.*243_*245delinsGGT (n.*243_*245delinsGGT) n.2062_2064delinsGGT n.2296_2298delinsGGT n.1673_1675delinsGGT n.541_543delinsGGT c.*939_*941delinsGGT (n.*939_*941delinsGGT) c.*490_*492delinsGGT (n.*490_*492delinsGGT) c.*1015_*1017delinsGGT (n.*1015_*1017delinsGGT) c.825_827delinsGGT c.1423_1425delinsGGT (p.Ser475Gly) c.331_333delinsGGT (p.Ser111Gly) c.313_315delinsGGT (p.Ser105Gly) c.808_810delinsGGT (p.Ser270Gly) n.1474_1476delinsGGT | |
10 | g.87960996_87960998delinsGTT | CA891835820 | PTEN | c.997_999delinsGTT (p.Ser333Val) c.904_906delinsGTT (p.Ser302Val) n.1639_1641delinsGTT c.*734_*736delinsGTT (n.*734_*736delinsGTT) c.859_861delinsGTT (p.Ser287Val) c.*243_*245delinsGTT (n.*243_*245delinsGTT) n.2062_2064delinsGTT n.2296_2298delinsGTT n.1673_1675delinsGTT n.541_543delinsGTT c.*939_*941delinsGTT (n.*939_*941delinsGTT) c.*490_*492delinsGTT (n.*490_*492delinsGTT) c.*1015_*1017delinsGTT (n.*1015_*1017delinsGTT) c.825_827delinsGTT c.1423_1425delinsGTT (p.Ser475Val) c.331_333delinsGTT (p.Ser111Val) c.313_315delinsGTT (p.Ser105Val) c.808_810delinsGTT (p.Ser270Val) n.1474_1476delinsGTT | |
10 | g.87960996_87960998delinsTAA | CA891835796 | PTEN | c.997_999delinsTAA (p.Ser333Ter) c.904_906delinsTAA (p.Ser302Ter) n.1639_1641delinsTAA c.*734_*736delinsTAA (n.*734_*736delinsTAA) c.859_861delinsTAA (p.Ser287Ter) c.*243_*245delinsTAA (n.*243_*245delinsTAA) n.2062_2064delinsTAA n.2296_2298delinsTAA n.1673_1675delinsTAA n.541_543delinsTAA c.*939_*941delinsTAA (n.*939_*941delinsTAA) c.*490_*492delinsTAA (n.*490_*492delinsTAA) c.*1015_*1017delinsTAA (n.*1015_*1017delinsTAA) c.825_827delinsTAA c.1423_1425delinsTAA (p.Ser475Ter) c.331_333delinsTAA (p.Ser111Ter) c.313_315delinsTAA (p.Ser105Ter) c.808_810delinsTAA (p.Ser270Ter) n.1474_1476delinsTAA | |
10 | g.87960996_87960998delinsTAT | CA891835814 | PTEN | c.997_999delinsTAT (p.Ser333Tyr) c.904_906delinsTAT (p.Ser302Tyr) n.1639_1641delinsTAT c.*734_*736delinsTAT (n.*734_*736delinsTAT) c.859_861delinsTAT (p.Ser287Tyr) c.*243_*245delinsTAT (n.*243_*245delinsTAT) n.2062_2064delinsTAT n.2296_2298delinsTAT n.1673_1675delinsTAT n.541_543delinsTAT c.*939_*941delinsTAT (n.*939_*941delinsTAT) c.*490_*492delinsTAT (n.*490_*492delinsTAT) c.*1015_*1017delinsTAT (n.*1015_*1017delinsTAT) c.825_827delinsTAT c.1423_1425delinsTAT (p.Ser475Tyr) c.331_333delinsTAT (p.Ser111Tyr) c.313_315delinsTAT (p.Ser105Tyr) c.808_810delinsTAT (p.Ser270Tyr) n.1474_1476delinsTAT | |
10 | g.87960996_87960998delinsTCT | CA2579926745 | PTEN | c.997_999delinsTCT (p.Ser333=) c.904_906delinsTCT (p.Ser302=) n.1639_1641delinsTCT c.*734_*736delinsTCT (n.*734_*736delinsTCT) c.859_861delinsTCT (p.Ser287=) c.*243_*245delinsTCT (n.*243_*245delinsTCT) n.2062_2064delinsTCT n.2296_2298delinsTCT n.1673_1675delinsTCT n.541_543delinsTCT c.*939_*941delinsTCT (n.*939_*941delinsTCT) c.*490_*492delinsTCT (n.*490_*492delinsTCT) c.*1015_*1017delinsTCT (n.*1015_*1017delinsTCT) c.825_827delinsTCT c.1423_1425delinsTCT (p.Ser475=) c.331_333delinsTCT (p.Ser111=) c.313_315delinsTCT (p.Ser105=) c.808_810delinsTCT (p.Ser270=) n.1474_1476delinsTCT | |
10 | g.87960996_87960998delinsTGG | CA891835813 | PTEN | c.997_999delinsTGG (p.Ser333Trp) c.904_906delinsTGG (p.Ser302Trp) n.1639_1641delinsTGG c.*734_*736delinsTGG (n.*734_*736delinsTGG) c.859_861delinsTGG (p.Ser287Trp) c.*243_*245delinsTGG (n.*243_*245delinsTGG) n.2062_2064delinsTGG n.2296_2298delinsTGG n.1673_1675delinsTGG n.541_543delinsTGG c.*939_*941delinsTGG (n.*939_*941delinsTGG) c.*490_*492delinsTGG (n.*490_*492delinsTGG) c.*1015_*1017delinsTGG (n.*1015_*1017delinsTGG) c.825_827delinsTGG c.1423_1425delinsTGG (p.Ser475Trp) c.331_333delinsTGG (p.Ser111Trp) c.313_315delinsTGG (p.Ser105Trp) c.808_810delinsTGG (p.Ser270Trp) n.1474_1476delinsTGG | |
10 | g.87960996_87960998delinsTGT | CA891835812 | PTEN | c.997_999delinsTGT (p.Ser333Cys) c.904_906delinsTGT (p.Ser302Cys) n.1639_1641delinsTGT c.*734_*736delinsTGT (n.*734_*736delinsTGT) c.859_861delinsTGT (p.Ser287Cys) c.*243_*245delinsTGT (n.*243_*245delinsTGT) n.2062_2064delinsTGT n.2296_2298delinsTGT n.1673_1675delinsTGT n.541_543delinsTGT c.*939_*941delinsTGT (n.*939_*941delinsTGT) c.*490_*492delinsTGT (n.*490_*492delinsTGT) c.*1015_*1017delinsTGT (n.*1015_*1017delinsTGT) c.825_827delinsTGT c.1423_1425delinsTGT (p.Ser475Cys) c.331_333delinsTGT (p.Ser111Cys) c.313_315delinsTGT (p.Ser105Cys) c.808_810delinsTGT (p.Ser270Cys) n.1474_1476delinsTGT | |
10 | g.87960996_87960998delinsTTG | CA891835818 | PTEN | c.997_999delinsTTG (p.Ser333Leu) c.904_906delinsTTG (p.Ser302Leu) n.1639_1641delinsTTG c.*734_*736delinsTTG (n.*734_*736delinsTTG) c.859_861delinsTTG (p.Ser287Leu) c.*243_*245delinsTTG (n.*243_*245delinsTTG) n.2062_2064delinsTTG n.2296_2298delinsTTG n.1673_1675delinsTTG n.541_543delinsTTG c.*939_*941delinsTTG (n.*939_*941delinsTTG) c.*490_*492delinsTTG (n.*490_*492delinsTTG) c.*1015_*1017delinsTTG (n.*1015_*1017delinsTTG) c.825_827delinsTTG c.1423_1425delinsTTG (p.Ser475Leu) c.331_333delinsTTG (p.Ser111Leu) c.313_315delinsTTG (p.Ser105Leu) c.808_810delinsTTG (p.Ser270Leu) n.1474_1476delinsTTG | |
10 | g.87960996_87960998delinsTTT | CA891835816 | PTEN | c.997_999delinsTTT (p.Ser333Phe) c.904_906delinsTTT (p.Ser302Phe) n.1639_1641delinsTTT c.*734_*736delinsTTT (n.*734_*736delinsTTT) c.859_861delinsTTT (p.Ser287Phe) c.*243_*245delinsTTT (n.*243_*245delinsTTT) n.2062_2064delinsTTT n.2296_2298delinsTTT n.1673_1675delinsTTT n.541_543delinsTTT c.*939_*941delinsTTT (n.*939_*941delinsTTT) c.*490_*492delinsTTT (n.*490_*492delinsTTT) c.*1015_*1017delinsTTT (n.*1015_*1017delinsTTT) c.825_827delinsTTT c.1423_1425delinsTTT (p.Ser475Phe) c.331_333delinsTTT (p.Ser111Phe) c.313_315delinsTTT (p.Ser105Phe) c.808_810delinsTTT (p.Ser270Phe) n.1474_1476delinsTTT | |
10 | g.87960997_87960999del | CA2579926744 | PTEN | c.998_1000del (p.Ser333del) c.905_907del (p.Ser302del) n.1640_1642del c.*735_*737del (n.*735_*737del) c.860_862del (p.Ser287del) c.*244_*246del (n.*244_*246del) n.2063_2065del n.2297_2299del n.1674_1676del n.542_544del c.*940_*942del (n.*940_*942del) c.*491_*493del (n.*491_*493del) c.*1016_*1018del (n.*1016_*1018del) c.826_828del c.1424_1426del (p.Ser475del) c.332_334del (p.Ser111del) c.314_316del (p.Ser105del) c.809_811del (p.Ser270del) n.1475_1477del | |
10 | g.87960999_87961014del | CA645554097 | PTEN | c.1000_1015del (p.Ile334ValfsTer9) c.907_922del (p.Ile303ValfsTer9) n.1642_1657del c.*737_*752del (n.*737_*752del) c.862_877del (p.Ile288ValfsTer9) c.*246_*261del (n.*246_*261del) n.2065_2080del n.2299_2314del n.1676_1691del n.544_559del c.*942_*957del (n.*942_*957del) c.*493_*508del (n.*493_*508del) c.*1018_*1033del (n.*1018_*1033del) c.828_843del c.1426_1441del (p.Ile476ValfsTer9) c.334_349del (p.Ile112ValfsTer9) c.316_331del (p.Ile106ValfsTer9) c.811_826del (p.Ile271ValfsTer9) n.1477_1492del | COSMIC |
10 | g.87960997G>A | CA060793 | PTEN | c.998G>A (p.Ser333Asn) c.905G>A (p.Ser302Asn) n.1640G>A c.*735G>A (n.*735G>A) c.860G>A (p.Ser287Asn) c.*244G>A (n.*244G>A) n.2063G>A n.2297G>A n.1674G>A n.542G>A c.*940G>A (n.*940G>A) c.*491G>A (n.*491G>A) c.*1016G>A (n.*1016G>A) c.826G>A c.1424G>A (p.Ser475Asn) c.332G>A (p.Ser111Asn) c.314G>A (p.Ser105Asn) c.809G>A (p.Ser270Asn) n.1475G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.87960997G>C | CA377485799 | PTEN | c.998G>C (p.Ser333Thr) c.905G>C (p.Ser302Thr) n.1640G>C c.*735G>C (n.*735G>C) c.860G>C (p.Ser287Thr) c.*244G>C (n.*244G>C) n.2063G>C n.2297G>C n.1674G>C n.542G>C c.*940G>C (n.*940G>C) c.*491G>C (n.*491G>C) c.*1016G>C (n.*1016G>C) c.826G>C c.1424G>C (p.Ser475Thr) c.332G>C (p.Ser111Thr) c.314G>C (p.Ser105Thr) c.809G>C (p.Ser270Thr) n.1475G>C | dbSNP |
10 | g.87960997G= | CA1926190027 | PTEN | c.998G= (p.Ser333=) c.905G= (p.Ser302=) n.1640G= c.*735G= (n.*735G=) c.860G= (p.Ser287=) c.*244G= (n.*244G=) n.2063G= n.2297G= n.1674G= n.542G= c.*940G= (n.*940G=) c.*491G= (n.*491G=) c.*1016G= (n.*1016G=) c.826G= c.1424G= (p.Ser475=) c.332G= (p.Ser111=) c.314G= (p.Ser105=) c.809G= (p.Ser270=) n.1475G= | |
10 | g.87960997G>T | CA377485800 | PTEN | c.998G>T (p.Ser333Ile) c.905G>T (p.Ser302Ile) n.1640G>T c.*735G>T (n.*735G>T) c.860G>T (p.Ser287Ile) c.*244G>T (n.*244G>T) n.2063G>T n.2297G>T n.1674G>T n.542G>T c.*940G>T (n.*940G>T) c.*491G>T (n.*491G>T) c.*1016G>T (n.*1016G>T) c.826G>T c.1424G>T (p.Ser475Ile) c.332G>T (p.Ser111Ile) c.314G>T (p.Ser105Ile) c.809G>T (p.Ser270Ile) n.1475G>T | dbSNP |
10 | g.87960997_87960998delinsAA | CA891835847 | PTEN | c.998_999delinsAA (p.Ser333Lys) c.905_906delinsAA (p.Ser302Lys) n.1640_1641delinsAA c.*735_*736delinsAA (n.*735_*736delinsAA) c.860_861delinsAA (p.Ser287Lys) c.*244_*245delinsAA (n.*244_*245delinsAA) n.2063_2064delinsAA n.2297_2298delinsAA n.1674_1675delinsAA n.542_543delinsAA c.*940_*941delinsAA (n.*940_*941delinsAA) c.*491_*492delinsAA (n.*491_*492delinsAA) c.*1016_*1017delinsAA (n.*1016_*1017delinsAA) c.826_827delinsAA c.1424_1425delinsAA (p.Ser475Lys) c.332_333delinsAA (p.Ser111Lys) c.314_315delinsAA (p.Ser105Lys) c.809_810delinsAA (p.Ser270Lys) n.1475_1476delinsAA | |
10 | g.87960997_87960998delinsAT | CA891835841 | PTEN | c.998_999delinsAT (p.Ser333Asn) c.905_906delinsAT (p.Ser302Asn) n.1640_1641delinsAT c.*735_*736delinsAT (n.*735_*736delinsAT) c.860_861delinsAT (p.Ser287Asn) c.*244_*245delinsAT (n.*244_*245delinsAT) n.2063_2064delinsAT n.2297_2298delinsAT n.1674_1675delinsAT n.542_543delinsAT c.*940_*941delinsAT (n.*940_*941delinsAT) c.*491_*492delinsAT (n.*491_*492delinsAT) c.*1016_*1017delinsAT (n.*1016_*1017delinsAT) c.826_827delinsAT c.1424_1425delinsAT (p.Ser475Asn) c.332_333delinsAT (p.Ser111Asn) c.314_315delinsAT (p.Ser105Asn) c.809_810delinsAT (p.Ser270Asn) n.1475_1476delinsAT |