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.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.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.87960966_87960969dup | CA2695200901 | PTEN | c.967_970dup (p.Gly324GlufsTer6) c.874_877dup (p.Gly293GlufsTer6) n.1609_1612dup c.*704_*707dup (n.*704_*707dup) c.829_832dup (p.Gly278GlufsTer6) c.*213_*216dup (n.*213_*216dup) n.2032_2035dup n.2266_2269dup n.1643_1646dup n.511_514dup c.801_804dup c.*909_*912dup (n.*909_*912dup) c.*460_*463dup (n.*460_*463dup) c.*985_*988dup (n.*985_*988dup) c.795_798dup c.1393_1396dup (p.Gly466GlufsTer6) c.301_304dup (p.Gly102GlufsTer6) c.283_286dup (p.Gly96GlufsTer6) c.778_781dup (p.Gly261GlufsTer6) n.1444_1447dup | ClinVar |
10 | g.87960968_87960972del | CA2695200902 | PTEN | c.969_973del (p.Asn323LysfsTer4) c.876_880del (p.Asn292LysfsTer4) n.1611_1615del c.*706_*710del (n.*706_*710del) c.831_835del (p.Asn277LysfsTer4) c.*215_*219del (n.*215_*219del) n.2034_2038del n.2268_2272del n.1645_1649del n.513_517del c.*911_*915del (n.*911_*915del) c.*462_*466del (n.*462_*466del) c.*987_*991del (n.*987_*991del) c.797_801del c.1395_1399del (p.Asn465LysfsTer4) c.303_307del (p.Asn101LysfsTer4) c.285_289del (p.Asn95LysfsTer4) c.780_784del (p.Asn260LysfsTer4) n.1446_1450del | ClinVar |
10 | g.87960969G>A | CA377485697 | PTEN | c.970G>A (p.Gly324Arg) c.877G>A (p.Gly293Arg) n.1612G>A c.*707G>A (n.*707G>A) c.832G>A (p.Gly278Arg) c.*216G>A (n.*216G>A) n.2035G>A n.2269G>A n.1646G>A n.514G>A c.804G>A c.*912G>A (n.*912G>A) c.*463G>A (n.*463G>A) c.*988G>A (n.*988G>A) c.798G>A c.1396G>A (p.Gly466Arg) c.304G>A (p.Gly102Arg) c.286G>A (p.Gly96Arg) c.781G>A (p.Gly261Arg) n.1447G>A | dbSNP |
10 | g.87960969G>C | CA377485698 | PTEN | c.970G>C (p.Gly324Arg) c.877G>C (p.Gly293Arg) n.1612G>C c.*707G>C (n.*707G>C) c.832G>C (p.Gly278Arg) c.*216G>C (n.*216G>C) n.2035G>C n.2269G>C n.1646G>C n.514G>C c.804G>C c.*912G>C (n.*912G>C) c.*463G>C (n.*463G>C) c.*988G>C (n.*988G>C) c.798G>C c.1396G>C (p.Gly466Arg) c.304G>C (p.Gly102Arg) c.286G>C (p.Gly96Arg) c.781G>C (p.Gly261Arg) n.1447G>C | dbSNP |
10 | g.87960969G= | CA1926190001 | PTEN | c.970G= (p.Gly324=) c.877G= (p.Gly293=) n.1612G= c.*707G= (n.*707G=) c.832G= (p.Gly278=) c.*216G= (n.*216G=) n.2035G= n.2269G= n.1646G= n.514G= c.804G= c.*912G= (n.*912G=) c.*463G= (n.*463G=) c.*988G= (n.*988G=) c.798G= c.1396G= (p.Gly466=) c.304G= (p.Gly102=) c.286G= (p.Gly96=) c.781G= (p.Gly261=) n.1447G= | |
10 | g.87960969G>T | CA10582766 | PTEN | c.970G>T (p.Gly324Ter) c.877G>T (p.Gly293Ter) n.1612G>T c.*707G>T (n.*707G>T) c.832G>T (p.Gly278Ter) c.*216G>T (n.*216G>T) n.2035G>T n.2269G>T n.1646G>T n.514G>T c.804G>T c.*912G>T (n.*912G>T) c.*463G>T (n.*463G>T) c.*988G>T (n.*988G>T) c.798G>T c.1396G>T (p.Gly466Ter) c.304G>T (p.Gly102Ter) c.286G>T (p.Gly96Ter) c.781G>T (p.Gly261Ter) n.1447G>T | ClinVar dbSNP COSMIC |
10 | g.87960969_87960970delinsA | CA891842087 | PTEN | c.970_971delinsA (p.Gly324LysfsTer14) c.877_878delinsA (p.Gly293LysfsTer14) n.1612_1613delinsA c.*707_*708delinsA (n.*707_*708delinsA) c.832_833delinsA (p.Gly278LysfsTer14) c.*216_*217delinsA (n.*216_*217delinsA) n.2035_2036delinsA n.2269_2270delinsA n.1646_1647delinsA n.514_515delinsA c.804_805delinsA c.*912_*913delinsA (n.*912_*913delinsA) c.*463_*464delinsA (n.*463_*464delinsA) c.*988_*989delinsA (n.*988_*989delinsA) c.798_799delinsA c.1396_1397delinsA (p.Gly466LysfsTer14) c.304_305delinsA (p.Gly102LysfsTer14) c.286_287delinsA (p.Gly96LysfsTer14) c.781_782delinsA (p.Gly261LysfsTer14) n.1447_1448delinsA | |
10 | g.87960969_87960970delinsAA | CA891835289 | PTEN | c.970_971delinsAA (p.Gly324Lys) c.877_878delinsAA (p.Gly293Lys) n.1612_1613delinsAA c.*707_*708delinsAA (n.*707_*708delinsAA) c.832_833delinsAA (p.Gly278Lys) c.*216_*217delinsAA (n.*216_*217delinsAA) n.2035_2036delinsAA n.2269_2270delinsAA n.1646_1647delinsAA n.514_515delinsAA c.804_805delinsAA c.*912_*913delinsAA (n.*912_*913delinsAA) c.*463_*464delinsAA (n.*463_*464delinsAA) c.*988_*989delinsAA (n.*988_*989delinsAA) c.798_799delinsAA c.1396_1397delinsAA (p.Gly466Lys) c.304_305delinsAA (p.Gly102Lys) c.286_287delinsAA (p.Gly96Lys) c.781_782delinsAA (p.Gly261Lys) n.1447_1448delinsAA | |
10 | g.87960969_87960970delinsAC | CA891841126 | PTEN | c.970_971delinsAC (p.Gly324Thr) c.877_878delinsAC (p.Gly293Thr) n.1612_1613delinsAC c.*707_*708delinsAC (n.*707_*708delinsAC) c.832_833delinsAC (p.Gly278Thr) c.*216_*217delinsAC (n.*216_*217delinsAC) n.2035_2036delinsAC n.2269_2270delinsAC n.1646_1647delinsAC n.514_515delinsAC c.804_805delinsAC c.*912_*913delinsAC (n.*912_*913delinsAC) c.*463_*464delinsAC (n.*463_*464delinsAC) c.*988_*989delinsAC (n.*988_*989delinsAC) c.798_799delinsAC c.1396_1397delinsAC (p.Gly466Thr) c.304_305delinsAC (p.Gly102Thr) c.286_287delinsAC (p.Gly96Thr) c.781_782delinsAC (p.Gly261Thr) n.1447_1448delinsAC | |
10 | g.87960969_87960970delinsCA | CA2579926712 | PTEN | c.970_971delinsCA (p.Gly324Gln) c.877_878delinsCA (p.Gly293Gln) n.1612_1613delinsCA c.*707_*708delinsCA (n.*707_*708delinsCA) c.832_833delinsCA (p.Gly278Gln) c.*216_*217delinsCA (n.*216_*217delinsCA) n.2035_2036delinsCA n.2269_2270delinsCA n.1646_1647delinsCA n.514_515delinsCA c.804_805delinsCA c.*912_*913delinsCA (n.*912_*913delinsCA) c.*463_*464delinsCA (n.*463_*464delinsCA) c.*988_*989delinsCA (n.*988_*989delinsCA) c.798_799delinsCA c.1396_1397delinsCA (p.Gly466Gln) c.304_305delinsCA (p.Gly102Gln) c.286_287delinsCA (p.Gly96Gln) c.781_782delinsCA (p.Gly261Gln) n.1447_1448delinsCA | |
10 | g.87960969_87960970delinsCC | CA891835291 | PTEN | c.970_971delinsCC (p.Gly324Pro) c.877_878delinsCC (p.Gly293Pro) n.1612_1613delinsCC c.*707_*708delinsCC (n.*707_*708delinsCC) c.832_833delinsCC (p.Gly278Pro) c.*216_*217delinsCC (n.*216_*217delinsCC) n.2035_2036delinsCC n.2269_2270delinsCC n.1646_1647delinsCC n.514_515delinsCC c.804_805delinsCC c.*912_*913delinsCC (n.*912_*913delinsCC) c.*463_*464delinsCC (n.*463_*464delinsCC) c.*988_*989delinsCC (n.*988_*989delinsCC) c.798_799delinsCC c.1396_1397delinsCC (p.Gly466Pro) c.304_305delinsCC (p.Gly102Pro) c.286_287delinsCC (p.Gly96Pro) c.781_782delinsCC (p.Gly261Pro) n.1447_1448delinsCC | |
10 | g.87960969_87960970delinsTA | CA891835288 | PTEN | c.970_971delinsTA (p.Gly324Ter) c.877_878delinsTA (p.Gly293Ter) n.1612_1613delinsTA c.*707_*708delinsTA (n.*707_*708delinsTA) c.832_833delinsTA (p.Gly278Ter) c.*216_*217delinsTA (n.*216_*217delinsTA) n.2035_2036delinsTA n.2269_2270delinsTA n.1646_1647delinsTA n.514_515delinsTA c.804_805delinsTA c.*912_*913delinsTA (n.*912_*913delinsTA) c.*463_*464delinsTA (n.*463_*464delinsTA) c.*988_*989delinsTA (n.*988_*989delinsTA) c.798_799delinsTA c.1396_1397delinsTA (p.Gly466Ter) c.304_305delinsTA (p.Gly102Ter) c.286_287delinsTA (p.Gly96Ter) c.781_782delinsTA (p.Gly261Ter) n.1447_1448delinsTA | |
10 | g.87960969_87960970delinsTC | CA891841125 | PTEN | c.970_971delinsTC (p.Gly324Ser) c.877_878delinsTC (p.Gly293Ser) n.1612_1613delinsTC c.*707_*708delinsTC (n.*707_*708delinsTC) c.832_833delinsTC (p.Gly278Ser) c.*216_*217delinsTC (n.*216_*217delinsTC) n.2035_2036delinsTC n.2269_2270delinsTC n.1646_1647delinsTC n.514_515delinsTC c.804_805delinsTC c.*912_*913delinsTC (n.*912_*913delinsTC) c.*463_*464delinsTC (n.*463_*464delinsTC) c.*988_*989delinsTC (n.*988_*989delinsTC) c.798_799delinsTC c.1396_1397delinsTC (p.Gly466Ser) c.304_305delinsTC (p.Gly102Ser) c.286_287delinsTC (p.Gly96Ser) c.781_782delinsTC (p.Gly261Ser) n.1447_1448delinsTC | |
10 | g.87960969_87960970delinsTT | CA891841124 | PTEN | c.970_971delinsTT (p.Gly324Leu) c.877_878delinsTT (p.Gly293Leu) n.1612_1613delinsTT c.*707_*708delinsTT (n.*707_*708delinsTT) c.832_833delinsTT (p.Gly278Leu) c.*216_*217delinsTT (n.*216_*217delinsTT) n.2035_2036delinsTT n.2269_2270delinsTT n.1646_1647delinsTT n.514_515delinsTT c.804_805delinsTT c.*912_*913delinsTT (n.*912_*913delinsTT) c.*463_*464delinsTT (n.*463_*464delinsTT) c.*988_*989delinsTT (n.*988_*989delinsTT) c.798_799delinsTT c.1396_1397delinsTT (p.Gly466Leu) c.304_305delinsTT (p.Gly102Leu) c.286_287delinsTT (p.Gly96Leu) c.781_782delinsTT (p.Gly261Leu) n.1447_1448delinsTT | |
10 | g.87960970dup | CA645554090 | PTEN | c.971dup (p.Ser325LysfsTer4) c.878dup (p.Ser294LysfsTer4) n.1613dup c.*708dup (n.*708dup) c.833dup (p.Ser279LysfsTer4) c.*217dup (n.*217dup) n.2036dup n.2270dup n.1647dup n.515dup c.805dup c.*913dup (n.*913dup) c.*464dup (n.*464dup) c.*989dup (n.*989dup) c.799dup c.1397dup (p.Ser467LysfsTer4) c.305dup (p.Ser103LysfsTer4) c.287dup (p.Ser97LysfsTer4) c.782dup (p.Ser262LysfsTer4) n.1448dup | COSMIC COSMIC |
10 | g.87960970del | CA470973966 | PTEN | c.971del (p.Gly324GlufsTer14) c.878del (p.Gly293GlufsTer14) n.1613del c.*708del (n.*708del) c.833del (p.Gly278GlufsTer14) c.*217del (n.*217del) n.2036del n.2270del n.1647del n.515del c.805del c.*913del (n.*913del) c.*464del (n.*464del) c.*989del (n.*989del) c.799del c.1397del (p.Gly466GlufsTer14) c.305del (p.Gly102GlufsTer14) c.287del (p.Gly96GlufsTer14) c.782del (p.Gly261GlufsTer14) n.1448del | ClinVar COSMIC |
10 | g.87960969_87960971del | CA2579926711 | PTEN | c.970_972del (p.Gly324del) c.877_879del (p.Gly293del) n.1612_1614del c.*707_*709del (n.*707_*709del) c.832_834del (p.Gly278del) c.*216_*218del (n.*216_*218del) n.2035_2037del n.2269_2271del n.1646_1648del n.514_516del c.804_806del c.*912_*914del (n.*912_*914del) c.*463_*465del (n.*463_*465del) c.*988_*990del (n.*988_*990del) c.798_800del c.1396_1398del (p.Gly466del) c.304_306del (p.Gly102del) c.286_288del (p.Gly96del) c.781_783del (p.Gly261del) n.1447_1449del | |
10 | g.87960969_87960971delinsAAT | CA891835294 | PTEN | c.970_972delinsAAT (p.Gly324Asn) c.877_879delinsAAT (p.Gly293Asn) n.1612_1614delinsAAT c.*707_*709delinsAAT (n.*707_*709delinsAAT) c.832_834delinsAAT (p.Gly278Asn) c.*216_*218delinsAAT (n.*216_*218delinsAAT) n.2035_2037delinsAAT n.2269_2271delinsAAT n.1646_1648delinsAAT n.514_516delinsAAT c.804_806delinsAAT c.*912_*914delinsAAT (n.*912_*914delinsAAT) c.*463_*465delinsAAT (n.*463_*465delinsAAT) c.*988_*990delinsAAT (n.*988_*990delinsAAT) c.798_800delinsAAT c.1396_1398delinsAAT (p.Gly466Asn) c.304_306delinsAAT (p.Gly102Asn) c.286_288delinsAAT (p.Gly96Asn) c.781_783delinsAAT (p.Gly261Asn) n.1447_1449delinsAAT | |
10 | g.87960969_87960971delinsACT | CA2579926713 | PTEN | c.970_972delinsACT (p.Gly324Thr) c.877_879delinsACT (p.Gly293Thr) n.1612_1614delinsACT c.*707_*709delinsACT (n.*707_*709delinsACT) c.832_834delinsACT (p.Gly278Thr) c.*216_*218delinsACT (n.*216_*218delinsACT) n.2035_2037delinsACT n.2269_2271delinsACT n.1646_1648delinsACT n.514_516delinsACT c.804_806delinsACT c.*912_*914delinsACT (n.*912_*914delinsACT) c.*463_*465delinsACT (n.*463_*465delinsACT) c.*988_*990delinsACT (n.*988_*990delinsACT) c.798_800delinsACT c.1396_1398delinsACT (p.Gly466Thr) c.304_306delinsACT (p.Gly102Thr) c.286_288delinsACT (p.Gly96Thr) c.781_783delinsACT (p.Gly261Thr) n.1447_1449delinsACT | |
10 | g.87960969_87960971delinsATG | CA891835298 | PTEN | c.970_972delinsATG (p.Gly324Met) c.877_879delinsATG (p.Gly293Met) n.1612_1614delinsATG c.*707_*709delinsATG (n.*707_*709delinsATG) c.832_834delinsATG (p.Gly278Met) c.*216_*218delinsATG (n.*216_*218delinsATG) n.2035_2037delinsATG n.2269_2271delinsATG n.1646_1648delinsATG n.514_516delinsATG c.804_806delinsATG c.*912_*914delinsATG (n.*912_*914delinsATG) c.*463_*465delinsATG (n.*463_*465delinsATG) c.*988_*990delinsATG (n.*988_*990delinsATG) c.798_800delinsATG c.1396_1398delinsATG (p.Gly466Met) c.304_306delinsATG (p.Gly102Met) c.286_288delinsATG (p.Gly96Met) c.781_783delinsATG (p.Gly261Met) n.1447_1449delinsATG | |
10 | g.87960969_87960971delinsATT | CA891835299 | PTEN | c.970_972delinsATT (p.Gly324Ile) c.877_879delinsATT (p.Gly293Ile) n.1612_1614delinsATT c.*707_*709delinsATT (n.*707_*709delinsATT) c.832_834delinsATT (p.Gly278Ile) c.*216_*218delinsATT (n.*216_*218delinsATT) n.2035_2037delinsATT n.2269_2271delinsATT n.1646_1648delinsATT n.514_516delinsATT c.804_806delinsATT c.*912_*914delinsATT (n.*912_*914delinsATT) c.*463_*465delinsATT (n.*463_*465delinsATT) c.*988_*990delinsATT (n.*988_*990delinsATT) c.798_800delinsATT c.1396_1398delinsATT (p.Gly466Ile) c.304_306delinsATT (p.Gly102Ile) c.286_288delinsATT (p.Gly96Ile) c.781_783delinsATT (p.Gly261Ile) n.1447_1449delinsATT | |
10 | g.87960969_87960971delinsCAT | CA891835290 | PTEN | c.970_972delinsCAT (p.Gly324His) c.877_879delinsCAT (p.Gly293His) n.1612_1614delinsCAT c.*707_*709delinsCAT (n.*707_*709delinsCAT) c.832_834delinsCAT (p.Gly278His) c.*216_*218delinsCAT (n.*216_*218delinsCAT) n.2035_2037delinsCAT n.2269_2271delinsCAT n.1646_1648delinsCAT n.514_516delinsCAT c.804_806delinsCAT c.*912_*914delinsCAT (n.*912_*914delinsCAT) c.*463_*465delinsCAT (n.*463_*465delinsCAT) c.*988_*990delinsCAT (n.*988_*990delinsCAT) c.798_800delinsCAT c.1396_1398delinsCAT (p.Gly466His) c.304_306delinsCAT (p.Gly102His) c.286_288delinsCAT (p.Gly96His) c.781_783delinsCAT (p.Gly261His) n.1447_1449delinsCAT | |
10 | g.87960969_87960971delinsTAT | CA891835293 | PTEN | c.970_972delinsTAT (p.Gly324Tyr) c.877_879delinsTAT (p.Gly293Tyr) n.1612_1614delinsTAT c.*707_*709delinsTAT (n.*707_*709delinsTAT) c.832_834delinsTAT (p.Gly278Tyr) c.*216_*218delinsTAT (n.*216_*218delinsTAT) n.2035_2037delinsTAT n.2269_2271delinsTAT n.1646_1648delinsTAT n.514_516delinsTAT c.804_806delinsTAT c.*912_*914delinsTAT (n.*912_*914delinsTAT) c.*463_*465delinsTAT (n.*463_*465delinsTAT) c.*988_*990delinsTAT (n.*988_*990delinsTAT) c.798_800delinsTAT c.1396_1398delinsTAT (p.Gly466Tyr) c.304_306delinsTAT (p.Gly102Tyr) c.286_288delinsTAT (p.Gly96Tyr) c.781_783delinsTAT (p.Gly261Tyr) n.1447_1449delinsTAT | |
10 | g.87960969_87960971delinsTCT | CA891835295 | PTEN | c.970_972delinsTCT (p.Gly324Ser) c.877_879delinsTCT (p.Gly293Ser) n.1612_1614delinsTCT c.*707_*709delinsTCT (n.*707_*709delinsTCT) c.832_834delinsTCT (p.Gly278Ser) c.*216_*218delinsTCT (n.*216_*218delinsTCT) n.2035_2037delinsTCT n.2269_2271delinsTCT n.1646_1648delinsTCT n.514_516delinsTCT c.804_806delinsTCT c.*912_*914delinsTCT (n.*912_*914delinsTCT) c.*463_*465delinsTCT (n.*463_*465delinsTCT) c.*988_*990delinsTCT (n.*988_*990delinsTCT) c.798_800delinsTCT c.1396_1398delinsTCT (p.Gly466Ser) c.304_306delinsTCT (p.Gly102Ser) c.286_288delinsTCT (p.Gly96Ser) c.781_783delinsTCT (p.Gly261Ser) n.1447_1449delinsTCT | |
10 | g.87960969_87960971delinsTGG | CA891835296 | PTEN | c.970_972delinsTGG (p.Gly324Trp) c.877_879delinsTGG (p.Gly293Trp) n.1612_1614delinsTGG c.*707_*709delinsTGG (n.*707_*709delinsTGG) c.832_834delinsTGG (p.Gly278Trp) c.*216_*218delinsTGG (n.*216_*218delinsTGG) n.2035_2037delinsTGG n.2269_2271delinsTGG n.1646_1648delinsTGG n.514_516delinsTGG c.804_806delinsTGG c.*912_*914delinsTGG (n.*912_*914delinsTGG) c.*463_*465delinsTGG (n.*463_*465delinsTGG) c.*988_*990delinsTGG (n.*988_*990delinsTGG) c.798_800delinsTGG c.1396_1398delinsTGG (p.Gly466Trp) c.304_306delinsTGG (p.Gly102Trp) c.286_288delinsTGG (p.Gly96Trp) c.781_783delinsTGG (p.Gly261Trp) n.1447_1449delinsTGG | |
10 | g.87960969_87960971delinsTGT | CA891835292 | PTEN | c.970_972delinsTGT (p.Gly324Cys) c.877_879delinsTGT (p.Gly293Cys) n.1612_1614delinsTGT c.*707_*709delinsTGT (n.*707_*709delinsTGT) c.832_834delinsTGT (p.Gly278Cys) c.*216_*218delinsTGT (n.*216_*218delinsTGT) n.2035_2037delinsTGT n.2269_2271delinsTGT n.1646_1648delinsTGT n.514_516delinsTGT c.804_806delinsTGT c.*912_*914delinsTGT (n.*912_*914delinsTGT) c.*463_*465delinsTGT (n.*463_*465delinsTGT) c.*988_*990delinsTGT (n.*988_*990delinsTGT) c.798_800delinsTGT c.1396_1398delinsTGT (p.Gly466Cys) c.304_306delinsTGT (p.Gly102Cys) c.286_288delinsTGT (p.Gly96Cys) c.781_783delinsTGT (p.Gly261Cys) n.1447_1449delinsTGT | |
10 | g.87960969_87960971delinsTTG | CA2579926714 | PTEN | c.970_972delinsTTG (p.Gly324Leu) c.877_879delinsTTG (p.Gly293Leu) n.1612_1614delinsTTG c.*707_*709delinsTTG (n.*707_*709delinsTTG) c.832_834delinsTTG (p.Gly278Leu) c.*216_*218delinsTTG (n.*216_*218delinsTTG) n.2035_2037delinsTTG n.2269_2271delinsTTG n.1646_1648delinsTTG n.514_516delinsTTG c.804_806delinsTTG c.*912_*914delinsTTG (n.*912_*914delinsTTG) c.*463_*465delinsTTG (n.*463_*465delinsTTG) c.*988_*990delinsTTG (n.*988_*990delinsTTG) c.798_800delinsTTG c.1396_1398delinsTTG (p.Gly466Leu) c.304_306delinsTTG (p.Gly102Leu) c.286_288delinsTTG (p.Gly96Leu) c.781_783delinsTTG (p.Gly261Leu) n.1447_1449delinsTTG | |
10 | g.87960969_87960971delinsTTT | CA891835297 | PTEN | c.970_972delinsTTT (p.Gly324Phe) c.877_879delinsTTT (p.Gly293Phe) n.1612_1614delinsTTT c.*707_*709delinsTTT (n.*707_*709delinsTTT) c.832_834delinsTTT (p.Gly278Phe) c.*216_*218delinsTTT (n.*216_*218delinsTTT) n.2035_2037delinsTTT n.2269_2271delinsTTT n.1646_1648delinsTTT n.514_516delinsTTT c.804_806delinsTTT c.*912_*914delinsTTT (n.*912_*914delinsTTT) c.*463_*465delinsTTT (n.*463_*465delinsTTT) c.*988_*990delinsTTT (n.*988_*990delinsTTT) c.798_800delinsTTT c.1396_1398delinsTTT (p.Gly466Phe) c.304_306delinsTTT (p.Gly102Phe) c.286_288delinsTTT (p.Gly96Phe) c.781_783delinsTTT (p.Gly261Phe) n.1447_1449delinsTTT | |
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.87960970G>A | CA377485700 | PTEN | c.971G>A (p.Gly324Glu) c.878G>A (p.Gly293Glu) n.1613G>A c.*708G>A (n.*708G>A) c.833G>A (p.Gly278Glu) c.*217G>A (n.*217G>A) n.2036G>A n.2270G>A n.1647G>A n.515G>A c.805G>A c.*913G>A (n.*913G>A) c.*464G>A (n.*464G>A) c.*989G>A (n.*989G>A) c.799G>A c.1397G>A (p.Gly466Glu) c.305G>A (p.Gly102Glu) c.287G>A (p.Gly96Glu) c.782G>A (p.Gly261Glu) n.1448G>A | dbSNP |
10 | g.87960970G>C | CA377485701 | PTEN | c.971G>C (p.Gly324Ala) c.878G>C (p.Gly293Ala) n.1613G>C c.*708G>C (n.*708G>C) c.833G>C (p.Gly278Ala) c.*217G>C (n.*217G>C) n.2036G>C n.2270G>C n.1647G>C n.515G>C c.805G>C c.*913G>C (n.*913G>C) c.*464G>C (n.*464G>C) c.*989G>C (n.*989G>C) c.799G>C c.1397G>C (p.Gly466Ala) c.305G>C (p.Gly102Ala) c.287G>C (p.Gly96Ala) c.782G>C (p.Gly261Ala) n.1448G>C | ClinVar dbSNP |
10 | g.87960970G= | CA1926190002 | PTEN | c.971G= (p.Gly324=) c.878G= (p.Gly293=) n.1613G= c.*708G= (n.*708G=) c.833G= (p.Gly278=) c.*217G= (n.*217G=) n.2036G= n.2270G= n.1647G= n.515G= c.805G= c.*913G= (n.*913G=) c.*464G= (n.*464G=) c.*989G= (n.*989G=) c.799G= c.1397G= (p.Gly466=) c.305G= (p.Gly102=) c.287G= (p.Gly96=) c.782G= (p.Gly261=) n.1448G= | |
10 | g.87960970G>T | CA377485703 | PTEN | c.971G>T (p.Gly324Val) c.878G>T (p.Gly293Val) n.1613G>T c.*708G>T (n.*708G>T) c.833G>T (p.Gly278Val) c.*217G>T (n.*217G>T) n.2036G>T n.2270G>T n.1647G>T n.515G>T c.805G>T c.*913G>T (n.*913G>T) c.*464G>T (n.*464G>T) c.*989G>T (n.*989G>T) c.799G>T c.1397G>T (p.Gly466Val) c.305G>T (p.Gly102Val) c.287G>T (p.Gly96Val) c.782G>T (p.Gly261Val) n.1448G>T | ClinVar dbSNP COSMIC |
10 | g.87960970_87960971del | CA645554091 | PTEN | c.971_972del (p.Gly324GlufsTer4) c.878_879del (p.Gly293GlufsTer4) n.1613_1614del c.*708_*709del (n.*708_*709del) c.833_834del (p.Gly278GlufsTer4) c.*217_*218del (n.*217_*218del) n.2036_2037del n.2270_2271del n.1647_1648del n.515_516del c.805_806del c.*913_*914del (n.*913_*914del) c.*464_*465del (n.*464_*465del) c.*989_*990del (n.*989_*990del) c.799_800del c.1397_1398del (p.Gly466GlufsTer4) c.305_306del (p.Gly102GlufsTer4) c.287_288del (p.Gly96GlufsTer4) c.782_783del (p.Gly261GlufsTer4) n.1448_1449del | COSMIC |
10 | g.87960970_87960971delinsAT | CA891835305 | PTEN | c.971_972delinsAT (p.Gly324Asp) c.878_879delinsAT (p.Gly293Asp) n.1613_1614delinsAT c.*708_*709delinsAT (n.*708_*709delinsAT) c.833_834delinsAT (p.Gly278Asp) c.*217_*218delinsAT (n.*217_*218delinsAT) n.2036_2037delinsAT n.2270_2271delinsAT n.1647_1648delinsAT n.515_516delinsAT c.805_806delinsAT c.*913_*914delinsAT (n.*913_*914delinsAT) c.*464_*465delinsAT (n.*464_*465delinsAT) c.*989_*990delinsAT (n.*989_*990delinsAT) c.799_800delinsAT c.1397_1398delinsAT (p.Gly466Asp) c.305_306delinsAT (p.Gly102Asp) c.287_288delinsAT (p.Gly96Asp) c.782_783delinsAT (p.Gly261Asp) n.1448_1449delinsAT | |
10 | g.87960970_87960971delinsCT | CA891835306 | PTEN | c.971_972delinsCT (p.Gly324Ala) c.878_879delinsCT (p.Gly293Ala) n.1613_1614delinsCT c.*708_*709delinsCT (n.*708_*709delinsCT) c.833_834delinsCT (p.Gly278Ala) c.*217_*218delinsCT (n.*217_*218delinsCT) n.2036_2037delinsCT n.2270_2271delinsCT n.1647_1648delinsCT n.515_516delinsCT c.805_806delinsCT c.*913_*914delinsCT (n.*913_*914delinsCT) c.*464_*465delinsCT (n.*464_*465delinsCT) c.*989_*990delinsCT (n.*989_*990delinsCT) c.799_800delinsCT c.1397_1398delinsCT (p.Gly466Ala) c.305_306delinsCT (p.Gly102Ala) c.287_288delinsCT (p.Gly96Ala) c.782_783delinsCT (p.Gly261Ala) n.1448_1449delinsCT | |
10 | g.87960970_87960971delinsTT | CA891835302 | PTEN | c.971_972delinsTT (p.Gly324Val) c.878_879delinsTT (p.Gly293Val) n.1613_1614delinsTT c.*708_*709delinsTT (n.*708_*709delinsTT) c.833_834delinsTT (p.Gly278Val) c.*217_*218delinsTT (n.*217_*218delinsTT) n.2036_2037delinsTT n.2270_2271delinsTT n.1647_1648delinsTT n.515_516delinsTT c.805_806delinsTT c.*913_*914delinsTT (n.*913_*914delinsTT) c.*464_*465delinsTT (n.*464_*465delinsTT) c.*989_*990delinsTT (n.*989_*990delinsTT) c.799_800delinsTT c.1397_1398delinsTT (p.Gly466Val) c.305_306delinsTT (p.Gly102Val) c.287_288delinsTT (p.Gly96Val) c.782_783delinsTT (p.Gly261Val) n.1448_1449delinsTT | |
10 | g.87960971A= | CA1926190003 | PTEN | c.972A= (p.Gly324=) c.879A= (p.Gly293=) n.1614A= c.*709A= (n.*709A=) c.834A= (p.Gly278=) c.*218A= (n.*218A=) n.2037A= n.2271A= n.1648A= n.516A= c.806A= c.*914A= (n.*914A=) c.*465A= (n.*465A=) c.*990A= (n.*990A=) c.800A= c.1398A= (p.Gly466=) c.306A= (p.Gly102=) c.288A= (p.Gly96=) c.783A= (p.Gly261=) n.1449A= | |
10 | g.87960971A>C | CA16613256 | PTEN | c.972A>C (p.Gly324=) c.879A>C (p.Gly293=) n.1614A>C c.*709A>C (n.*709A>C) c.834A>C (p.Gly278=) c.*218A>C (n.*218A>C) n.2037A>C n.2271A>C n.1648A>C n.516A>C c.806A>C c.*914A>C (n.*914A>C) c.*465A>C (n.*465A>C) c.*990A>C (n.*990A>C) c.800A>C c.1398A>C (p.Gly466=) c.306A>C (p.Gly102=) c.288A>C (p.Gly96=) c.783A>C (p.Gly261=) n.1449A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
10 | g.87960971A>G | CA470973967 | PTEN | c.972A>G (p.Gly324=) c.879A>G (p.Gly293=) n.1614A>G c.*709A>G (n.*709A>G) c.834A>G (p.Gly278=) c.*218A>G (n.*218A>G) n.2037A>G n.2271A>G n.1648A>G n.516A>G c.806A>G c.*914A>G (n.*914A>G) c.*465A>G (n.*465A>G) c.*990A>G (n.*990A>G) c.800A>G c.1398A>G (p.Gly466=) c.306A>G (p.Gly102=) c.288A>G (p.Gly96=) c.783A>G (p.Gly261=) n.1449A>G | ClinVar dbSNP |
10 | g.87960971A>T | CA470973968 | PTEN | c.972A>T (p.Gly324=) c.879A>T (p.Gly293=) n.1614A>T c.*709A>T (n.*709A>T) c.834A>T (p.Gly278=) c.*218A>T (n.*218A>T) n.2037A>T n.2271A>T n.1648A>T n.516A>T c.806A>T c.*914A>T (n.*914A>T) c.*465A>T (n.*465A>T) c.*990A>T (n.*990A>T) c.800A>T c.1398A>T (p.Gly466=) c.306A>T (p.Gly102=) c.288A>T (p.Gly96=) c.783A>T (p.Gly261=) n.1449A>T | dbSNP |
10 | g.87960972dup | CA2695200904 | PTEN | c.973dup (p.Ser325LysfsTer4) c.880dup (p.Ser294LysfsTer4) n.1615dup c.*710dup (n.*710dup) c.835dup (p.Ser279LysfsTer4) c.*219dup (n.*219dup) n.2038dup n.2272dup n.1649dup n.517dup c.*915dup (n.*915dup) c.*466dup (n.*466dup) c.*991dup (n.*991dup) c.801dup c.1399dup (p.Ser467LysfsTer4) c.307dup (p.Ser103LysfsTer4) c.289dup (p.Ser97LysfsTer4) c.784dup (p.Ser262LysfsTer4) n.1450dup | 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.87960972A>C | CA377485704 | PTEN | c.973A>C (p.Ser325Arg) c.880A>C (p.Ser294Arg) n.1615A>C c.*710A>C (n.*710A>C) c.835A>C (p.Ser279Arg) c.*219A>C (n.*219A>C) n.2038A>C n.2272A>C n.1649A>C n.517A>C c.*915A>C (n.*915A>C) c.*466A>C (n.*466A>C) c.*991A>C (n.*991A>C) c.801A>C c.1399A>C (p.Ser467Arg) c.307A>C (p.Ser103Arg) c.289A>C (p.Ser97Arg) c.784A>C (p.Ser262Arg) n.1450A>C | |
10 | g.87960972A>G | CA377485706 | PTEN | c.973A>G (p.Ser325Gly) c.880A>G (p.Ser294Gly) n.1615A>G c.*710A>G (n.*710A>G) c.835A>G (p.Ser279Gly) c.*219A>G (n.*219A>G) n.2038A>G n.2272A>G n.1649A>G n.517A>G c.*915A>G (n.*915A>G) c.*466A>G (n.*466A>G) c.*991A>G (n.*991A>G) c.801A>G c.1399A>G (p.Ser467Gly) c.307A>G (p.Ser103Gly) c.289A>G (p.Ser97Gly) c.784A>G (p.Ser262Gly) n.1450A>G |