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.87960960_87960984del | CA2695200900 | PTEN | c.961_985del (p.Val321LysfsTer9) c.868_892del (p.Val290LysfsTer9) n.1603_1627del c.*698_*722del (n.*698_*722del) c.823_847del (p.Val275LysfsTer9) c.*207_*231del (n.*207_*231del) n.2026_2050del n.2260_2284del n.1637_1661del n.505_529del c.*903_*927del (n.*903_*927del) c.*454_*478del (n.*454_*478del) c.*979_*1003del (n.*979_*1003del) c.789_813del c.1387_1411del (p.Val463LysfsTer9) c.295_319del (p.Val99LysfsTer9) c.277_301del (p.Val93LysfsTer9) c.772_796del (p.Val258LysfsTer9) n.1438_1462del | ClinVar |
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.87960974_87960987del | CA2695200905 | PTEN | c.975_988del (p.Ser325ArgfsTer4) c.882_895del (p.Ser294ArgfsTer4) n.1617_1630del c.*712_*725del (n.*712_*725del) c.837_850del (p.Ser279ArgfsTer4) c.*221_*234del (n.*221_*234del) n.2040_2053del n.2274_2287del n.1651_1664del n.519_532del c.*917_*930del (n.*917_*930del) c.*468_*481del (n.*468_*481del) c.*993_*1006del (n.*993_*1006del) c.803_816del c.1401_1414del (p.Ser467ArgfsTer4) c.309_322del (p.Ser103ArgfsTer4) c.291_304del (p.Ser97ArgfsTer4) c.786_799del (p.Ser262ArgfsTer4) n.1452_1465del | ClinVar |
10 | g.87960975_87960992delinsCTATGTGATCAAGAAATC | CA1926190008 | PTEN | c.976_993delinsCTATGTGATCAAGAAATC (p.Leu326=) c.883_900delinsCTATGTGATCAAGAAATC (p.Leu295=) n.1618_1635delinsCTATGTGATCAAGAAATC c.*713_*730delinsCTATGTGATCAAGAAATC (n.*713_*730delinsCTATGTGATCAAGAAATC) c.838_855delinsCTATGTGATCAAGAAATC (p.Leu280=) c.*222_*239delinsCTATGTGATCAAGAAATC (n.*222_*239delinsCTATGTGATCAAGAAATC) n.2041_2058delinsCTATGTGATCAAGAAATC n.2275_2292delinsCTATGTGATCAAGAAATC n.1652_1669delinsCTATGTGATCAAGAAATC n.520_537delinsCTATGTGATCAAGAAATC c.*918_*935delinsCTATGTGATCAAGAAATC (n.*918_*935delinsCTATGTGATCAAGAAATC) c.*469_*486delinsCTATGTGATCAAGAAATC (n.*469_*486delinsCTATGTGATCAAGAAATC) c.*994_*1011delinsCTATGTGATCAAGAAATC (n.*994_*1011delinsCTATGTGATCAAGAAATC) c.804_821delinsCTATGTGATCAAGAAATC c.1402_1419delinsCTATGTGATCAAGAAATC (p.Leu468=) c.310_327delinsCTATGTGATCAAGAAATC (p.Leu104=) c.292_309delinsCTATGTGATCAAGAAATC (p.Leu98=) c.787_804delinsCTATGTGATCAAGAAATC (p.Leu263=) n.1453_1470delinsCTATGTGATCAAGAAATC | |
10 | g.87960977_87960980del | CA645369468 | PTEN | c.978_981del (p.Cys327IlefsTer10) c.885_888del (p.Cys296IlefsTer10) n.1620_1623del c.*715_*718del (n.*715_*718del) c.840_843del (p.Cys281IlefsTer10) c.*224_*227del (n.*224_*227del) n.2043_2046del n.2277_2280del n.1654_1657del n.522_525del c.*920_*923del (n.*920_*923del) c.*471_*474del (n.*471_*474del) c.*996_*999del (n.*996_*999del) c.806_809del c.1404_1407del (p.Cys469IlefsTer10) c.312_315del (p.Cys105IlefsTer10) c.294_297del (p.Cys99IlefsTer10) c.789_792del (p.Cys264IlefsTer10) n.1455_1458del | ClinVar dbSNP |
10 | g.87960976_87960992delinsG | CA645369469 | PTEN | c.977_993delinsG (p.Leu326ArgfsTer7) c.884_900delinsG (p.Leu295ArgfsTer7) n.1619_1635delinsG c.*714_*730delinsG (n.*714_*730delinsG) c.839_855delinsG (p.Leu280ArgfsTer7) c.*223_*239delinsG (n.*223_*239delinsG) n.2042_2058delinsG n.2276_2292delinsG n.1653_1669delinsG n.521_537delinsG c.*919_*935delinsG (n.*919_*935delinsG) c.*470_*486delinsG (n.*470_*486delinsG) c.*995_*1011delinsG (n.*995_*1011delinsG) c.805_821delinsG c.1403_1419delinsG (p.Leu468ArgfsTer7) c.311_327delinsG (p.Leu104ArgfsTer7) c.293_309delinsG (p.Leu98ArgfsTer7) c.788_804delinsG (p.Leu263ArgfsTer7) n.1454_1470delinsG | ClinVar dbSNP |
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.87960978_87960980del | CA2579926755 | PTEN | c.979_981del (p.Cys327del) c.886_888del (p.Cys296del) n.1621_1623del c.*716_*718del (n.*716_*718del) c.841_843del (p.Cys281del) c.*225_*227del (n.*225_*227del) n.2044_2046del n.2278_2280del n.1655_1657del n.523_525del c.*921_*923del (n.*921_*923del) c.*472_*474del (n.*472_*474del) c.*997_*999del (n.*997_*999del) c.807_809del c.1405_1407del (p.Cys469del) c.313_315del (p.Cys105del) c.295_297del (p.Cys99del) c.790_792del (p.Cys264del) n.1456_1458del | |
10 | g.87960978_87960980delinsAAA | CA891835412 | PTEN | c.979_981delinsAAA (p.Cys327Lys) c.886_888delinsAAA (p.Cys296Lys) n.1621_1623delinsAAA c.*716_*718delinsAAA (n.*716_*718delinsAAA) c.841_843delinsAAA (p.Cys281Lys) c.*225_*227delinsAAA (n.*225_*227delinsAAA) n.2044_2046delinsAAA n.2278_2280delinsAAA n.1655_1657delinsAAA n.523_525delinsAAA c.*921_*923delinsAAA (n.*921_*923delinsAAA) c.*472_*474delinsAAA (n.*472_*474delinsAAA) c.*997_*999delinsAAA (n.*997_*999delinsAAA) c.807_809delinsAAA c.1405_1407delinsAAA (p.Cys469Lys) c.313_315delinsAAA (p.Cys105Lys) c.295_297delinsAAA (p.Cys99Lys) c.790_792delinsAAA (p.Cys264Lys) n.1456_1458delinsAAA | |
10 | g.87960978_87960980delinsAGA | CA891835416 | PTEN | c.979_981delinsAGA (p.Cys327Arg) c.886_888delinsAGA (p.Cys296Arg) n.1621_1623delinsAGA c.*716_*718delinsAGA (n.*716_*718delinsAGA) c.841_843delinsAGA (p.Cys281Arg) c.*225_*227delinsAGA (n.*225_*227delinsAGA) n.2044_2046delinsAGA n.2278_2280delinsAGA n.1655_1657delinsAGA n.523_525delinsAGA c.*921_*923delinsAGA (n.*921_*923delinsAGA) c.*472_*474delinsAGA (n.*472_*474delinsAGA) c.*997_*999delinsAGA (n.*997_*999delinsAGA) c.807_809delinsAGA c.1405_1407delinsAGA (p.Cys469Arg) c.313_315delinsAGA (p.Cys105Arg) c.295_297delinsAGA (p.Cys99Arg) c.790_792delinsAGA (p.Cys264Arg) n.1456_1458delinsAGA | |
10 | g.87960978_87960980delinsATG | CA891835428 | PTEN | c.979_981delinsATG (p.Cys327Met) c.886_888delinsATG (p.Cys296Met) n.1621_1623delinsATG c.*716_*718delinsATG (n.*716_*718delinsATG) c.841_843delinsATG (p.Cys281Met) c.*225_*227delinsATG (n.*225_*227delinsATG) n.2044_2046delinsATG n.2278_2280delinsATG n.1655_1657delinsATG n.523_525delinsATG c.*921_*923delinsATG (n.*921_*923delinsATG) c.*472_*474delinsATG (n.*472_*474delinsATG) c.*997_*999delinsATG (n.*997_*999delinsATG) c.807_809delinsATG c.1405_1407delinsATG (p.Cys469Met) c.313_315delinsATG (p.Cys105Met) c.295_297delinsATG (p.Cys99Met) c.790_792delinsATG (p.Cys264Met) n.1456_1458delinsATG | |
10 | g.87960978_87960980delinsCAA | CA891835422 | PTEN | c.979_981delinsCAA (p.Cys327Gln) c.886_888delinsCAA (p.Cys296Gln) n.1621_1623delinsCAA c.*716_*718delinsCAA (n.*716_*718delinsCAA) c.841_843delinsCAA (p.Cys281Gln) c.*225_*227delinsCAA (n.*225_*227delinsCAA) n.2044_2046delinsCAA n.2278_2280delinsCAA n.1655_1657delinsCAA n.523_525delinsCAA c.*921_*923delinsCAA (n.*921_*923delinsCAA) c.*472_*474delinsCAA (n.*472_*474delinsCAA) c.*997_*999delinsCAA (n.*997_*999delinsCAA) c.807_809delinsCAA c.1405_1407delinsCAA (p.Cys469Gln) c.313_315delinsCAA (p.Cys105Gln) c.295_297delinsCAA (p.Cys99Gln) c.790_792delinsCAA (p.Cys264Gln) n.1456_1458delinsCAA | |
10 | g.87960978_87960980delinsCCA | CA891835417 | PTEN | c.979_981delinsCCA (p.Cys327Pro) c.886_888delinsCCA (p.Cys296Pro) n.1621_1623delinsCCA c.*716_*718delinsCCA (n.*716_*718delinsCCA) c.841_843delinsCCA (p.Cys281Pro) c.*225_*227delinsCCA (n.*225_*227delinsCCA) n.2044_2046delinsCCA n.2278_2280delinsCCA n.1655_1657delinsCCA n.523_525delinsCCA c.*921_*923delinsCCA (n.*921_*923delinsCCA) c.*472_*474delinsCCA (n.*472_*474delinsCCA) c.*997_*999delinsCCA (n.*997_*999delinsCCA) c.807_809delinsCCA c.1405_1407delinsCCA (p.Cys469Pro) c.313_315delinsCCA (p.Cys105Pro) c.295_297delinsCCA (p.Cys99Pro) c.790_792delinsCCA (p.Cys264Pro) n.1456_1458delinsCCA | |
10 | g.87960978_87960980delinsGAA | CA891835427 | PTEN | c.979_981delinsGAA (p.Cys327Glu) c.886_888delinsGAA (p.Cys296Glu) n.1621_1623delinsGAA c.*716_*718delinsGAA (n.*716_*718delinsGAA) c.841_843delinsGAA (p.Cys281Glu) c.*225_*227delinsGAA (n.*225_*227delinsGAA) n.2044_2046delinsGAA n.2278_2280delinsGAA n.1655_1657delinsGAA n.523_525delinsGAA c.*921_*923delinsGAA (n.*921_*923delinsGAA) c.*472_*474delinsGAA (n.*472_*474delinsGAA) c.*997_*999delinsGAA (n.*997_*999delinsGAA) c.807_809delinsGAA c.1405_1407delinsGAA (p.Cys469Glu) c.313_315delinsGAA (p.Cys105Glu) c.295_297delinsGAA (p.Cys99Glu) c.790_792delinsGAA (p.Cys264Glu) n.1456_1458delinsGAA | |
10 | g.87960979_87960980delinsAA | CA891835465 | PTEN | c.980_981delinsAA (p.Cys327Ter) c.887_888delinsAA (p.Cys296Ter) n.1622_1623delinsAA c.*717_*718delinsAA (n.*717_*718delinsAA) c.842_843delinsAA (p.Cys281Ter) c.*226_*227delinsAA (n.*226_*227delinsAA) n.2045_2046delinsAA n.2279_2280delinsAA n.1656_1657delinsAA n.524_525delinsAA c.*922_*923delinsAA (n.*922_*923delinsAA) c.*473_*474delinsAA (n.*473_*474delinsAA) c.*998_*999delinsAA (n.*998_*999delinsAA) c.808_809delinsAA c.1406_1407delinsAA (p.Cys469Ter) c.314_315delinsAA (p.Cys105Ter) c.296_297delinsAA (p.Cys99Ter) c.791_792delinsAA (p.Cys264Ter) n.1457_1458delinsAA | |
10 | g.87960979_87960980delinsTG | CA891835469 | PTEN | c.980_981delinsTG (p.Cys327Leu) c.887_888delinsTG (p.Cys296Leu) n.1622_1623delinsTG c.*717_*718delinsTG (n.*717_*718delinsTG) c.842_843delinsTG (p.Cys281Leu) c.*226_*227delinsTG (n.*226_*227delinsTG) n.2045_2046delinsTG n.2279_2280delinsTG n.1656_1657delinsTG n.524_525delinsTG c.*922_*923delinsTG (n.*922_*923delinsTG) c.*473_*474delinsTG (n.*473_*474delinsTG) c.*998_*999delinsTG (n.*998_*999delinsTG) c.808_809delinsTG c.1406_1407delinsTG (p.Cys469Leu) c.314_315delinsTG (p.Cys105Leu) c.296_297delinsTG (p.Cys99Leu) c.791_792delinsTG (p.Cys264Leu) n.1457_1458delinsTG | |
10 | g.87960979_87960982delinsGTGA | CA1926190012 | PTEN | c.980_983delinsGTGA (p.Cys327=) c.887_890delinsGTGA (p.Cys296=) n.1622_1625delinsGTGA c.*717_*720delinsGTGA (n.*717_*720delinsGTGA) c.842_845delinsGTGA (p.Cys281=) c.*226_*229delinsGTGA (n.*226_*229delinsGTGA) n.2045_2048delinsGTGA n.2279_2282delinsGTGA n.1656_1659delinsGTGA n.524_527delinsGTGA c.*922_*925delinsGTGA (n.*922_*925delinsGTGA) c.*473_*476delinsGTGA (n.*473_*476delinsGTGA) c.*998_*1001delinsGTGA (n.*998_*1001delinsGTGA) c.808_811delinsGTGA c.1406_1409delinsGTGA (p.Cys469=) c.314_317delinsGTGA (p.Cys105=) c.296_299delinsGTGA (p.Cys99=) c.791_794delinsGTGA (p.Cys264=) n.1457_1460delinsGTGA | |
10 | g.87960980del | CA470973975 | PTEN | c.981del (p.Cys327TrpfsTer11) c.888del (p.Cys296TrpfsTer11) n.1623del c.*718del (n.*718del) c.843del (p.Cys281TrpfsTer11) c.*227del (n.*227del) n.2046del n.2280del n.1657del n.525del c.*923del (n.*923del) c.*474del (n.*474del) c.*999del (n.*999del) c.809del c.1407del (p.Cys469TrpfsTer11) c.315del (p.Cys105TrpfsTer11) c.297del (p.Cys99TrpfsTer11) c.792del (p.Cys264TrpfsTer11) n.1458del | COSMIC |
10 | g.87960980T>A | CA377485733 | PTEN | c.981T>A (p.Cys327Ter) c.888T>A (p.Cys296Ter) n.1623T>A c.*718T>A (n.*718T>A) c.843T>A (p.Cys281Ter) c.*227T>A (n.*227T>A) n.2046T>A n.2280T>A n.1657T>A n.525T>A c.*923T>A (n.*923T>A) c.*474T>A (n.*474T>A) c.*999T>A (n.*999T>A) c.809T>A c.1407T>A (p.Cys469Ter) c.315T>A (p.Cys105Ter) c.297T>A (p.Cys99Ter) c.792T>A (p.Cys264Ter) n.1458T>A | ClinVar dbSNP |
10 | g.87960980T>C | CA470973974 | PTEN | c.981T>C (p.Cys327=) c.888T>C (p.Cys296=) n.1623T>C c.*718T>C (n.*718T>C) c.843T>C (p.Cys281=) c.*227T>C (n.*227T>C) n.2046T>C n.2280T>C n.1657T>C n.525T>C c.*923T>C (n.*923T>C) c.*474T>C (n.*474T>C) c.*999T>C (n.*999T>C) c.809T>C c.1407T>C (p.Cys469=) c.315T>C (p.Cys105=) c.297T>C (p.Cys99=) c.792T>C (p.Cys264=) n.1458T>C | |
10 | g.87960980T>G | CA377485735 | PTEN | c.981T>G (p.Cys327Trp) c.888T>G (p.Cys296Trp) n.1623T>G c.*718T>G (n.*718T>G) c.843T>G (p.Cys281Trp) c.*227T>G (n.*227T>G) n.2046T>G n.2280T>G n.1657T>G n.525T>G c.*923T>G (n.*923T>G) c.*474T>G (n.*474T>G) c.*999T>G (n.*999T>G) c.809T>G c.1407T>G (p.Cys469Trp) c.315T>G (p.Cys105Trp) c.297T>G (p.Cys99Trp) c.792T>G (p.Cys264Trp) n.1458T>G | ClinVar dbSNP |
10 | g.87960980T= | CA1926190014 | PTEN | c.981T= (p.Cys327=) c.888T= (p.Cys296=) n.1623T= c.*718T= (n.*718T=) c.843T= (p.Cys281=) c.*227T= (n.*227T=) n.2046T= n.2280T= n.1657T= n.525T= c.*923T= (n.*923T=) c.*474T= (n.*474T=) c.*999T= (n.*999T=) c.809T= c.1407T= (p.Cys469=) c.315T= (p.Cys105=) c.297T= (p.Cys99=) c.792T= (p.Cys264=) n.1458T= | |
10 | g.87960981_87960983del | CA211252173 | PTEN | c.982_984del (p.Asp328del) c.889_891del (p.Asp297del) n.1624_1626del c.*719_*721del (n.*719_*721del) c.844_846del (p.Asp282del) c.*228_*230del (n.*228_*230del) n.2047_2049del n.2281_2283del n.1658_1660del n.526_528del c.*924_*926del (n.*924_*926del) c.*475_*477del (n.*475_*477del) c.*1000_*1002del (n.*1000_*1002del) c.810_812del c.1408_1410del (p.Asp470del) c.316_318del (p.Asp106del) c.298_300del (p.Asp100del) c.793_795del (p.Asp265del) n.1459_1461del | dbSNP |
10 | g.87960981G>A | CA377485737 | PTEN | c.982G>A (p.Asp328Asn) c.889G>A (p.Asp297Asn) n.1624G>A c.*719G>A (n.*719G>A) c.844G>A (p.Asp282Asn) c.*228G>A (n.*228G>A) n.2047G>A n.2281G>A n.1658G>A n.526G>A c.*924G>A (n.*924G>A) c.*475G>A (n.*475G>A) c.*1000G>A (n.*1000G>A) c.810G>A c.1408G>A (p.Asp470Asn) c.316G>A (p.Asp106Asn) c.298G>A (p.Asp100Asn) c.793G>A (p.Asp265Asn) n.1459G>A | dbSNP |
10 | g.87960981G>C | CA16612914 | PTEN | c.982G>C (p.Asp328His) c.889G>C (p.Asp297His) n.1624G>C c.*719G>C (n.*719G>C) c.844G>C (p.Asp282His) c.*228G>C (n.*228G>C) n.2047G>C n.2281G>C n.1658G>C n.526G>C c.*924G>C (n.*924G>C) c.*475G>C (n.*475G>C) c.*1000G>C (n.*1000G>C) c.810G>C c.1408G>C (p.Asp470His) c.316G>C (p.Asp106His) c.298G>C (p.Asp100His) c.793G>C (p.Asp265His) n.1459G>C | ClinVar dbSNP |
10 | g.87960981G= | CA1926190016 | PTEN | c.982G= (p.Asp328=) c.889G= (p.Asp297=) n.1624G= c.*719G= (n.*719G=) c.844G= (p.Asp282=) c.*228G= (n.*228G=) n.2047G= n.2281G= n.1658G= n.526G= c.*924G= (n.*924G=) c.*475G= (n.*475G=) c.*1000G= (n.*1000G=) c.810G= c.1408G= (p.Asp470=) c.316G= (p.Asp106=) c.298G= (p.Asp100=) c.793G= (p.Asp265=) n.1459G= | |
10 | g.87960981G>T | CA16619064 | PTEN | c.982G>T (p.Asp328Tyr) c.889G>T (p.Asp297Tyr) n.1624G>T c.*719G>T (n.*719G>T) c.844G>T (p.Asp282Tyr) c.*228G>T (n.*228G>T) n.2047G>T n.2281G>T n.1658G>T n.526G>T c.*924G>T (n.*924G>T) c.*475G>T (n.*475G>T) c.*1000G>T (n.*1000G>T) c.810G>T c.1408G>T (p.Asp470Tyr) c.316G>T (p.Asp106Tyr) c.298G>T (p.Asp100Tyr) c.793G>T (p.Asp265Tyr) n.1459G>T | ClinVar dbSNP gnomAD v4 |
10 | g.87960981_87960982delinsAC | CA891835495 | PTEN | c.982_983delinsAC (p.Asp328Thr) c.889_890delinsAC (p.Asp297Thr) n.1624_1625delinsAC c.*719_*720delinsAC (n.*719_*720delinsAC) c.844_845delinsAC (p.Asp282Thr) c.*228_*229delinsAC (n.*228_*229delinsAC) n.2047_2048delinsAC n.2281_2282delinsAC n.1658_1659delinsAC n.526_527delinsAC c.*924_*925delinsAC (n.*924_*925delinsAC) c.*475_*476delinsAC (n.*475_*476delinsAC) c.*1000_*1001delinsAC (n.*1000_*1001delinsAC) c.810_811delinsAC c.1408_1409delinsAC (p.Asp470Thr) c.316_317delinsAC (p.Asp106Thr) c.298_299delinsAC (p.Asp100Thr) c.793_794delinsAC (p.Asp265Thr) n.1459_1460delinsAC | |
10 | g.87960981_87960982delinsAT | CA891841151 | PTEN | c.982_983delinsAT (p.Asp328Ile) c.889_890delinsAT (p.Asp297Ile) n.1624_1625delinsAT c.*719_*720delinsAT (n.*719_*720delinsAT) c.844_845delinsAT (p.Asp282Ile) c.*228_*229delinsAT (n.*228_*229delinsAT) n.2047_2048delinsAT n.2281_2282delinsAT n.1658_1659delinsAT n.526_527delinsAT c.*924_*925delinsAT (n.*924_*925delinsAT) c.*475_*476delinsAT (n.*475_*476delinsAT) c.*1000_*1001delinsAT (n.*1000_*1001delinsAT) c.810_811delinsAT c.1408_1409delinsAT (p.Asp470Ile) c.316_317delinsAT (p.Asp106Ile) c.298_299delinsAT (p.Asp100Ile) c.793_794delinsAT (p.Asp265Ile) n.1459_1460delinsAT | |
10 | g.87960981_87960982delinsCC | CA891841150 | PTEN | c.982_983delinsCC (p.Asp328Pro) c.889_890delinsCC (p.Asp297Pro) n.1624_1625delinsCC c.*719_*720delinsCC (n.*719_*720delinsCC) c.844_845delinsCC (p.Asp282Pro) c.*228_*229delinsCC (n.*228_*229delinsCC) n.2047_2048delinsCC n.2281_2282delinsCC n.1658_1659delinsCC n.526_527delinsCC c.*924_*925delinsCC (n.*924_*925delinsCC) c.*475_*476delinsCC (n.*475_*476delinsCC) c.*1000_*1001delinsCC (n.*1000_*1001delinsCC) c.810_811delinsCC c.1408_1409delinsCC (p.Asp470Pro) c.316_317delinsCC (p.Asp106Pro) c.298_299delinsCC (p.Asp100Pro) c.793_794delinsCC (p.Asp265Pro) n.1459_1460delinsCC | |
10 | g.87960981_87960982delinsCT | CA891841149 | PTEN | c.982_983delinsCT (p.Asp328Leu) c.889_890delinsCT (p.Asp297Leu) n.1624_1625delinsCT c.*719_*720delinsCT (n.*719_*720delinsCT) c.844_845delinsCT (p.Asp282Leu) c.*228_*229delinsCT (n.*228_*229delinsCT) n.2047_2048delinsCT n.2281_2282delinsCT n.1658_1659delinsCT n.526_527delinsCT c.*924_*925delinsCT (n.*924_*925delinsCT) c.*475_*476delinsCT (n.*475_*476delinsCT) c.*1000_*1001delinsCT (n.*1000_*1001delinsCT) c.810_811delinsCT c.1408_1409delinsCT (p.Asp470Leu) c.316_317delinsCT (p.Asp106Leu) c.298_299delinsCT (p.Asp100Leu) c.793_794delinsCT (p.Asp265Leu) n.1459_1460delinsCT | |
10 | g.87960981_87960982delinsTC | CA891835520 | PTEN | c.982_983delinsTC (p.Asp328Ser) c.889_890delinsTC (p.Asp297Ser) n.1624_1625delinsTC c.*719_*720delinsTC (n.*719_*720delinsTC) c.844_845delinsTC (p.Asp282Ser) c.*228_*229delinsTC (n.*228_*229delinsTC) n.2047_2048delinsTC n.2281_2282delinsTC n.1658_1659delinsTC n.526_527delinsTC c.*924_*925delinsTC (n.*924_*925delinsTC) c.*475_*476delinsTC (n.*475_*476delinsTC) c.*1000_*1001delinsTC (n.*1000_*1001delinsTC) c.810_811delinsTC c.1408_1409delinsTC (p.Asp470Ser) c.316_317delinsTC (p.Asp106Ser) c.298_299delinsTC (p.Asp100Ser) c.793_794delinsTC (p.Asp265Ser) n.1459_1460delinsTC | |
10 | g.87960981_87960982delinsTG | CA891835493 | PTEN | c.982_983delinsTG (p.Asp328Cys) c.889_890delinsTG (p.Asp297Cys) n.1624_1625delinsTG c.*719_*720delinsTG (n.*719_*720delinsTG) c.844_845delinsTG (p.Asp282Cys) c.*228_*229delinsTG (n.*228_*229delinsTG) n.2047_2048delinsTG n.2281_2282delinsTG n.1658_1659delinsTG n.526_527delinsTG c.*924_*925delinsTG (n.*924_*925delinsTG) c.*475_*476delinsTG (n.*475_*476delinsTG) c.*1000_*1001delinsTG (n.*1000_*1001delinsTG) c.810_811delinsTG c.1408_1409delinsTG (p.Asp470Cys) c.316_317delinsTG (p.Asp106Cys) c.298_299delinsTG (p.Asp100Cys) c.793_794delinsTG (p.Asp265Cys) n.1459_1460delinsTG | |
10 | g.87960981_87960982delinsTT | CA891835508 | PTEN | c.982_983delinsTT (p.Asp328Phe) c.889_890delinsTT (p.Asp297Phe) n.1624_1625delinsTT c.*719_*720delinsTT (n.*719_*720delinsTT) c.844_845delinsTT (p.Asp282Phe) c.*228_*229delinsTT (n.*228_*229delinsTT) n.2047_2048delinsTT n.2281_2282delinsTT n.1658_1659delinsTT n.526_527delinsTT c.*924_*925delinsTT (n.*924_*925delinsTT) c.*475_*476delinsTT (n.*475_*476delinsTT) c.*1000_*1001delinsTT (n.*1000_*1001delinsTT) c.810_811delinsTT c.1408_1409delinsTT (p.Asp470Phe) c.316_317delinsTT (p.Asp106Phe) c.298_299delinsTT (p.Asp100Phe) c.793_794delinsTT (p.Asp265Phe) n.1459_1460delinsTT | |
10 | g.87960981_87960983delinsAAA | CA891835486 | PTEN | c.982_984delinsAAA (p.Asp328Lys) c.889_891delinsAAA (p.Asp297Lys) n.1624_1626delinsAAA c.*719_*721delinsAAA (n.*719_*721delinsAAA) c.844_846delinsAAA (p.Asp282Lys) c.*228_*230delinsAAA (n.*228_*230delinsAAA) n.2047_2049delinsAAA n.2281_2283delinsAAA n.1658_1660delinsAAA n.526_528delinsAAA c.*924_*926delinsAAA (n.*924_*926delinsAAA) c.*475_*477delinsAAA (n.*475_*477delinsAAA) c.*1000_*1002delinsAAA (n.*1000_*1002delinsAAA) c.810_812delinsAAA c.1408_1410delinsAAA (p.Asp470Lys) c.316_318delinsAAA (p.Asp106Lys) c.298_300delinsAAA (p.Asp100Lys) c.793_795delinsAAA (p.Asp265Lys) n.1459_1461delinsAAA | |
10 | g.87960981_87960983delinsAGA | CA891835492 | PTEN | c.982_984delinsAGA (p.Asp328Arg) c.889_891delinsAGA (p.Asp297Arg) n.1624_1626delinsAGA c.*719_*721delinsAGA (n.*719_*721delinsAGA) c.844_846delinsAGA (p.Asp282Arg) c.*228_*230delinsAGA (n.*228_*230delinsAGA) n.2047_2049delinsAGA n.2281_2283delinsAGA n.1658_1660delinsAGA n.526_528delinsAGA c.*924_*926delinsAGA (n.*924_*926delinsAGA) c.*475_*477delinsAGA (n.*475_*477delinsAGA) c.*1000_*1002delinsAGA (n.*1000_*1002delinsAGA) c.810_812delinsAGA c.1408_1410delinsAGA (p.Asp470Arg) c.316_318delinsAGA (p.Asp106Arg) c.298_300delinsAGA (p.Asp100Arg) c.793_795delinsAGA (p.Asp265Arg) n.1459_1461delinsAGA | |
10 | g.87960981_87960983delinsATG | CA891835514 | PTEN | c.982_984delinsATG (p.Asp328Met) c.889_891delinsATG (p.Asp297Met) n.1624_1626delinsATG c.*719_*721delinsATG (n.*719_*721delinsATG) c.844_846delinsATG (p.Asp282Met) c.*228_*230delinsATG (n.*228_*230delinsATG) n.2047_2049delinsATG n.2281_2283delinsATG n.1658_1660delinsATG n.526_528delinsATG c.*924_*926delinsATG (n.*924_*926delinsATG) c.*475_*477delinsATG (n.*475_*477delinsATG) c.*1000_*1002delinsATG (n.*1000_*1002delinsATG) c.810_812delinsATG c.1408_1410delinsATG (p.Asp470Met) c.316_318delinsATG (p.Asp106Met) c.298_300delinsATG (p.Asp100Met) c.793_795delinsATG (p.Asp265Met) n.1459_1461delinsATG | |
10 | g.87960981_87960983delinsCAA | CA891835479 | PTEN | c.982_984delinsCAA (p.Asp328Gln) c.889_891delinsCAA (p.Asp297Gln) n.1624_1626delinsCAA c.*719_*721delinsCAA (n.*719_*721delinsCAA) c.844_846delinsCAA (p.Asp282Gln) c.*228_*230delinsCAA (n.*228_*230delinsCAA) n.2047_2049delinsCAA n.2281_2283delinsCAA n.1658_1660delinsCAA n.526_528delinsCAA c.*924_*926delinsCAA (n.*924_*926delinsCAA) c.*475_*477delinsCAA (n.*475_*477delinsCAA) c.*1000_*1002delinsCAA (n.*1000_*1002delinsCAA) c.810_812delinsCAA c.1408_1410delinsCAA (p.Asp470Gln) c.316_318delinsCAA (p.Asp106Gln) c.298_300delinsCAA (p.Asp100Gln) c.793_795delinsCAA (p.Asp265Gln) n.1459_1461delinsCAA | |
10 | g.87960981_87960983delinsCCA | CA2579926754 | PTEN | c.982_984delinsCCA (p.Asp328Pro) c.889_891delinsCCA (p.Asp297Pro) n.1624_1626delinsCCA c.*719_*721delinsCCA (n.*719_*721delinsCCA) c.844_846delinsCCA (p.Asp282Pro) c.*228_*230delinsCCA (n.*228_*230delinsCCA) n.2047_2049delinsCCA n.2281_2283delinsCCA n.1658_1660delinsCCA n.526_528delinsCCA c.*924_*926delinsCCA (n.*924_*926delinsCCA) c.*475_*477delinsCCA (n.*475_*477delinsCCA) c.*1000_*1002delinsCCA (n.*1000_*1002delinsCCA) c.810_812delinsCCA c.1408_1410delinsCCA (p.Asp470Pro) c.316_318delinsCCA (p.Asp106Pro) c.298_300delinsCCA (p.Asp100Pro) c.793_795delinsCCA (p.Asp265Pro) n.1459_1461delinsCCA | |
10 | g.87960981_87960983delinsGAT | CA1926190015 | PTEN | c.982_984delinsGAT (p.Asp328=) c.889_891delinsGAT (p.Asp297=) n.1624_1626delinsGAT c.*719_*721delinsGAT (n.*719_*721delinsGAT) c.844_846delinsGAT (p.Asp282=) c.*228_*230delinsGAT (n.*228_*230delinsGAT) n.2047_2049delinsGAT n.2281_2283delinsGAT n.1658_1660delinsGAT n.526_528delinsGAT c.*924_*926delinsGAT (n.*924_*926delinsGAT) c.*475_*477delinsGAT (n.*475_*477delinsGAT) c.*1000_*1002delinsGAT (n.*1000_*1002delinsGAT) c.810_812delinsGAT c.1408_1410delinsGAT (p.Asp470=) c.316_318delinsGAT (p.Asp106=) c.298_300delinsGAT (p.Asp100=) c.793_795delinsGAT (p.Asp265=) n.1459_1461delinsGAT | |
10 | g.87960981_87960983delinsTAA | CA891835481 | PTEN | c.982_984delinsTAA (p.Asp328Ter) c.889_891delinsTAA (p.Asp297Ter) n.1624_1626delinsTAA c.*719_*721delinsTAA (n.*719_*721delinsTAA) c.844_846delinsTAA (p.Asp282Ter) c.*228_*230delinsTAA (n.*228_*230delinsTAA) n.2047_2049delinsTAA n.2281_2283delinsTAA n.1658_1660delinsTAA n.526_528delinsTAA c.*924_*926delinsTAA (n.*924_*926delinsTAA) c.*475_*477delinsTAA (n.*475_*477delinsTAA) c.*1000_*1002delinsTAA (n.*1000_*1002delinsTAA) c.810_812delinsTAA c.1408_1410delinsTAA (p.Asp470Ter) c.316_318delinsTAA (p.Asp106Ter) c.298_300delinsTAA (p.Asp100Ter) c.793_795delinsTAA (p.Asp265Ter) n.1459_1461delinsTAA | |
10 | g.87960981_87960983delinsTGG | CA891835501 | PTEN | c.982_984delinsTGG (p.Asp328Trp) c.889_891delinsTGG (p.Asp297Trp) n.1624_1626delinsTGG c.*719_*721delinsTGG (n.*719_*721delinsTGG) c.844_846delinsTGG (p.Asp282Trp) c.*228_*230delinsTGG (n.*228_*230delinsTGG) n.2047_2049delinsTGG n.2281_2283delinsTGG n.1658_1660delinsTGG n.526_528delinsTGG c.*924_*926delinsTGG (n.*924_*926delinsTGG) c.*475_*477delinsTGG (n.*475_*477delinsTGG) c.*1000_*1002delinsTGG (n.*1000_*1002delinsTGG) c.810_812delinsTGG c.1408_1410delinsTGG (p.Asp470Trp) c.316_318delinsTGG (p.Asp106Trp) c.298_300delinsTGG (p.Asp100Trp) c.793_795delinsTGG (p.Asp265Trp) n.1459_1461delinsTGG | |
10 | g.87960981_87960983delinsTTG | CA891835516 | PTEN | c.982_984delinsTTG (p.Asp328Leu) c.889_891delinsTTG (p.Asp297Leu) n.1624_1626delinsTTG c.*719_*721delinsTTG (n.*719_*721delinsTTG) c.844_846delinsTTG (p.Asp282Leu) c.*228_*230delinsTTG (n.*228_*230delinsTTG) n.2047_2049delinsTTG n.2281_2283delinsTTG n.1658_1660delinsTTG n.526_528delinsTTG c.*924_*926delinsTTG (n.*924_*926delinsTTG) c.*475_*477delinsTTG (n.*475_*477delinsTTG) c.*1000_*1002delinsTTG (n.*1000_*1002delinsTTG) c.810_812delinsTTG c.1408_1410delinsTTG (p.Asp470Leu) c.316_318delinsTTG (p.Asp106Leu) c.298_300delinsTTG (p.Asp100Leu) c.793_795delinsTTG (p.Asp265Leu) n.1459_1461delinsTTG | |
10 | g.87960982A>C | CA377485740 | PTEN | c.983A>C (p.Asp328Ala) c.890A>C (p.Asp297Ala) n.1625A>C c.*720A>C (n.*720A>C) c.845A>C (p.Asp282Ala) c.*229A>C (n.*229A>C) n.2048A>C n.2282A>C n.1659A>C n.527A>C c.*925A>C (n.*925A>C) c.*476A>C (n.*476A>C) c.*1001A>C (n.*1001A>C) c.811A>C c.1409A>C (p.Asp470Ala) c.317A>C (p.Asp106Ala) c.299A>C (p.Asp100Ala) c.794A>C (p.Asp265Ala) n.1460A>C | |
10 | g.87960982A>G | CA377485742 | PTEN | c.983A>G (p.Asp328Gly) c.890A>G (p.Asp297Gly) n.1625A>G c.*720A>G (n.*720A>G) c.845A>G (p.Asp282Gly) c.*229A>G (n.*229A>G) n.2048A>G n.2282A>G n.1659A>G n.527A>G c.*925A>G (n.*925A>G) c.*476A>G (n.*476A>G) c.*1001A>G (n.*1001A>G) c.811A>G c.1409A>G (p.Asp470Gly) c.317A>G (p.Asp106Gly) c.299A>G (p.Asp100Gly) c.794A>G (p.Asp265Gly) n.1460A>G | ClinVar dbSNP |
10 | g.87960982A>T | CA377485744 | PTEN | c.983A>T (p.Asp328Val) c.890A>T (p.Asp297Val) n.1625A>T c.*720A>T (n.*720A>T) c.845A>T (p.Asp282Val) c.*229A>T (n.*229A>T) n.2048A>T n.2282A>T n.1659A>T n.527A>T c.*925A>T (n.*925A>T) c.*476A>T (n.*476A>T) c.*1001A>T (n.*1001A>T) c.811A>T c.1409A>T (p.Asp470Val) c.317A>T (p.Asp106Val) c.299A>T (p.Asp100Val) c.794A>T (p.Asp265Val) n.1460A>T | dbSNP |
10 | g.87960982_87960983del | CA211252191 | PTEN | c.983_984del (p.Asp328AlafsTer5) c.890_891del (p.Asp297AlafsTer5) n.1625_1626del c.*720_*721del (n.*720_*721del) c.845_846del (p.Asp282AlafsTer5) c.*229_*230del (n.*229_*230del) n.2048_2049del n.2282_2283del n.1659_1660del n.527_528del c.*925_*926del (n.*925_*926del) c.*476_*477del (n.*476_*477del) c.*1001_*1002del (n.*1001_*1002del) c.811_812del c.1409_1410del (p.Asp470AlafsTer5) c.317_318del (p.Asp106AlafsTer5) c.299_300del (p.Asp100AlafsTer5) c.794_795del (p.Asp265AlafsTer5) n.1460_1461del | dbSNP |