WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.87961047_87961088del | CA645554118 | PTEN | c.1048_1089del (p.Thr350_Lys363del) c.955_996del (p.Thr319_Lys332del) n.1690_1731del c.*785_*826del (n.*785_*826del) c.910_951del (p.Thr304_Lys317del) c.*294_*335del (n.*294_*335del) n.2113_2154del n.2347_2388del n.1724_1765del n.592_633del c.*990_*1031del (n.*990_*1031del) c.*541_*582del (n.*541_*582del) c.*1066_*1107del (n.*1066_*1107del) c.876_917del c.1474_1515del (p.Thr492_Lys505del) c.382_423del (p.Thr128_Lys141del) c.364_405del (p.Thr122_Lys135del) c.859_900del (p.Thr287_Lys300del) n.1525_1566del | COSMIC |
| 10 | g.87961058_87961088del | CA2573053370 | PTEN | c.1059_1089del (p.Asn354ProfsTer11) c.966_996del (p.Asn323ProfsTer14) c.966_996del (p.Asn323ProfsTer?) n.1701_1731del c.*796_*826del (n.*796_*826del) c.921_951del (p.Asn308ProfsTer11) c.*305_*335del (n.*305_*335del) n.2124_2154del n.2358_2388del n.1735_1765del n.603_633del c.966_996del (p.Asn323ProfsTer11) c.*1001_*1031del (n.*1001_*1031del) c.*552_*582del (n.*552_*582del) c.*1077_*1107del (n.*1077_*1107del) c.887_917del c.1485_1515del (p.Asn496ProfsTer11) c.393_423del (p.Asn132ProfsTer?) c.375_405del (p.Asn126ProfsTer11) c.870_900del (p.Asn291ProfsTer11) n.1536_1566del | ClinVar dbSNP |
| 10 | g.87961066_87961080delinsTTGACAAAGCAAATA | CA1926190096 | PTEN | c.1067_1081delinsTTGACAAAGCAAATA (p.Leu356=) c.974_988delinsTTGACAAAGCAAATA (p.Leu325=) n.1709_1723delinsTTGACAAAGCAAATA c.*804_*818delinsTTGACAAAGCAAATA (n.*804_*818delinsTTGACAAAGCAAATA) c.929_943delinsTTGACAAAGCAAATA (p.Leu310=) c.*313_*327delinsTTGACAAAGCAAATA (n.*313_*327delinsTTGACAAAGCAAATA) n.2132_2146delinsTTGACAAAGCAAATA n.2366_2380delinsTTGACAAAGCAAATA n.1743_1757delinsTTGACAAAGCAAATA n.611_625delinsTTGACAAAGCAAATA c.*1009_*1023delinsTTGACAAAGCAAATA (n.*1009_*1023delinsTTGACAAAGCAAATA) c.*560_*574delinsTTGACAAAGCAAATA (n.*560_*574delinsTTGACAAAGCAAATA) c.*1085_*1099delinsTTGACAAAGCAAATA (n.*1085_*1099delinsTTGACAAAGCAAATA) c.895_909delinsTTGACAAAGCAAATA c.1493_1507delinsTTGACAAAGCAAATA (p.Leu498=) c.401_415delinsTTGACAAAGCAAATA (p.Leu134=) c.383_397delinsTTGACAAAGCAAATA (p.Leu128=) c.878_892delinsTTGACAAAGCAAATA (p.Leu293=) n.1544_1558delinsTTGACAAAGCAAATA | |
| 10 | g.87961067_87961080delinsCGCTT | CA645369478 | PTEN | c.1068_1081delinsCGCTT (p.Leu357AlafsTer2) c.975_988delinsCGCTT (p.Leu326AlafsTer2) n.1710_1723delinsCGCTT c.*805_*818delinsCGCTT (n.*805_*818delinsCGCTT) c.930_943delinsCGCTT (p.Leu311AlafsTer2) c.*314_*327delinsCGCTT (n.*314_*327delinsCGCTT) n.2133_2146delinsCGCTT n.2367_2380delinsCGCTT n.1744_1757delinsCGCTT n.612_625delinsCGCTT c.*1010_*1023delinsCGCTT (n.*1010_*1023delinsCGCTT) c.*561_*574delinsCGCTT (n.*561_*574delinsCGCTT) c.*1086_*1099delinsCGCTT (n.*1086_*1099delinsCGCTT) c.896_909delinsCGCTT c.1494_1507delinsCGCTT (p.Leu499AlafsTer2) c.402_415delinsCGCTT (p.Leu135AlafsTer2) c.384_397delinsCGCTT (p.Leu129AlafsTer2) c.879_892delinsCGCTT (p.Leu294AlafsTer2) n.1545_1558delinsCGCTT | ClinVar dbSNP |
| 10 | g.87961076_87961090dup | CA16042752 | PTEN | c.1077_1091dup (p.Ala364_Asn365insAsnLysAspLysAla) c.984_998dup (p.Ala333_Asn334insAsnLysAspLysAla) n.1719_1733dup c.*814_*828dup (n.*814_*828dup) c.939_953dup (p.Ala318_Asn319insAsnLysAspLysAla) c.*323_*337dup (n.*323_*337dup) n.2142_2156dup n.2376_2390dup n.1753_1767dup n.621_635dup c.*1019_*1033dup (n.*1019_*1033dup) c.*570_*584dup (n.*570_*584dup) c.*1095_*1109dup (n.*1095_*1109dup) c.905_919dup c.1503_1517dup (p.Ala506_Asn507insAsnLysAspLysAla) c.411_425dup (p.Ala142_Asn143insAsnLysAspLysAla) c.393_407dup (p.Ala136_Asn137insAsnLysAspLysAla) c.888_902dup (p.Ala301_Asn302insAsnLysAspLysAla) n.1554_1568dup | ClinVar dbSNP |
| 10 | g.87961076_87961090del | CA2580082388 | PTEN | c.1077_1091del (p.Asn360_Ala364del) c.984_998del (p.Asn329_Ala333del) n.1719_1733del c.*814_*828del (n.*814_*828del) c.939_953del (p.Asn314_Ala318del) c.*323_*337del (n.*323_*337del) n.2142_2156del n.2376_2390del n.1753_1767del n.621_635del c.*1019_*1033del (n.*1019_*1033del) c.*570_*584del (n.*570_*584del) c.*1095_*1109del (n.*1095_*1109del) c.905_919del c.1503_1517del (p.Asn502_Ala506del) c.411_425del (p.Asn138_Ala142del) c.393_407del (p.Asn132_Ala136del) c.888_902del (p.Asn297_Ala301del) n.1554_1568del | ClinVar dbSNP |
| 10 | g.87961069_87961123del | CA645554127 | PTEN | c.1070_1119+5del c.977_1026+5del c.977_1031del (p.Asp326ValfsTer19) n.1712_1761+5del c.*807_*856+5del c.932_981+5del c.*316_*365+5del n.2135_2184+5del n.2369_2418+5del n.1746_1800del n.614_668del c.*1012_*1061+5del c.*563_*612+5del c.*1088_*1137+5del c.898_947+5del c.1496_1545+5del c.404_458del (p.Asp135ValfsTer19) c.386_435+5del c.881_930+5del n.1547_1596+5del | COSMIC |
| 10 | g.87961079_87961088dup | CA350854 | PTEN | c.1080_1089dup (p.Ala364Ter) c.987_996dup (p.Ala333Ter) n.1722_1731dup c.*817_*826dup (n.*817_*826dup) c.942_951dup (p.Ala318Ter) c.*326_*335dup (n.*326_*335dup) n.2145_2154dup n.2379_2388dup n.1756_1765dup n.624_633dup c.*1022_*1031dup (n.*1022_*1031dup) c.*573_*582dup (n.*573_*582dup) c.*1098_*1107dup (n.*1098_*1107dup) c.908_917dup c.1506_1515dup (p.Ala506Ter) c.414_423dup (p.Ala142Ter) c.396_405dup (p.Ala136Ter) c.891_900dup (p.Ala301Ter) n.1557_1566dup | ClinVar dbSNP |
| 10 | g.87961079_87961088del | CA645554129 | PTEN | c.1080_1089del (p.Asn360LysfsTer12) c.987_996del (p.Asn329LysfsTer15) c.987_996del (p.Asn329LysfsTer?) n.1722_1731del c.*817_*826del (n.*817_*826del) c.942_951del (p.Asn314LysfsTer12) c.*326_*335del (n.*326_*335del) n.2145_2154del n.2379_2388del n.1756_1765del n.624_633del c.987_996del (p.Asn329LysfsTer12) c.*1022_*1031del (n.*1022_*1031del) c.*573_*582del (n.*573_*582del) c.*1098_*1107del (n.*1098_*1107del) c.908_917del c.1506_1515del (p.Asn502LysfsTer12) c.414_423del (p.Asn138LysfsTer?) c.396_405del (p.Asn132LysfsTer12) c.891_900del (p.Asn297LysfsTer12) n.1557_1566del | COSMIC |
| 10 | g.87961079_87961082dup | CA2695200960 | PTEN | c.1080_1083dup (p.Asp362Ter) c.987_990dup (p.Asp331Ter) n.1722_1725dup c.*817_*820dup (n.*817_*820dup) c.942_945dup (p.Asp316Ter) c.*326_*329dup (n.*326_*329dup) n.2145_2148dup n.2379_2382dup n.1756_1759dup n.624_627dup c.*1022_*1025dup (n.*1022_*1025dup) c.*573_*576dup (n.*573_*576dup) c.*1098_*1101dup (n.*1098_*1101dup) c.908_911dup c.1506_1509dup (p.Asp504Ter) c.414_417dup (p.Asp140Ter) c.396_399dup (p.Asp134Ter) c.891_894dup (p.Asp299Ter) n.1557_1560dup | ClinVar |
| 10 | g.87961079_87961082del | CA000656 | PTEN | c.1080_1083del (p.Asn360LysfsTer14) c.987_990del (p.Asn329LysfsTer17) c.987_990del (p.Asn329LysfsTer?) n.1722_1725del c.*817_*820del (n.*817_*820del) c.942_945del (p.Asn314LysfsTer14) c.*326_*329del (n.*326_*329del) n.2145_2148del n.2379_2382del n.1756_1759del n.624_627del c.987_990del (p.Asn329LysfsTer14) c.*1022_*1025del (n.*1022_*1025del) c.*573_*576del (n.*573_*576del) c.*1098_*1101del (n.*1098_*1101del) c.908_911del c.1506_1509del (p.Asn502LysfsTer14) c.414_417del (p.Asn138LysfsTer?) c.396_399del (p.Asn132LysfsTer14) c.891_894del (p.Asn297LysfsTer14) n.1557_1560del | ClinVar dbSNP COSMIC COSMIC |
| 10 | g.87961079_87961081del | CA2579926681 | PTEN | c.1080_1082del (p.Asn360del) c.987_989del (p.Asn329del) n.1722_1724del c.*817_*819del (n.*817_*819del) c.942_944del (p.Asn314del) c.*326_*328del (n.*326_*328del) n.2145_2147del n.2379_2381del n.1756_1758del n.624_626del c.*1022_*1024del (n.*1022_*1024del) c.*573_*575del (n.*573_*575del) c.*1098_*1100del (n.*1098_*1100del) c.908_910del c.1506_1508del (p.Asn502del) c.414_416del (p.Asn138del) c.396_398del (p.Asn132del) c.891_893del (p.Asn297del) n.1557_1559del | |
| 10 | g.87961079_87961093dup | CA2697558631 | PTEN | c.1080_1094dup (p.Asn365_Arg366insLysAspLysAlaAsn) c.987_1001dup (p.Asn334_Arg335insLysAspLysAlaAsn) n.1722_1736dup c.*817_*831dup (n.*817_*831dup) c.942_956dup (p.Asn319_Arg320insLysAspLysAlaAsn) c.*326_*340dup (n.*326_*340dup) n.2145_2159dup n.2379_2393dup n.1756_1770dup n.624_638dup c.*1022_*1036dup (n.*1022_*1036dup) c.*573_*587dup (n.*573_*587dup) c.*1098_*1112dup (n.*1098_*1112dup) c.908_922dup c.1506_1520dup (p.Asn507_Arg508insLysAspLysAlaAsn) c.414_428dup (p.Asn143_Arg144insLysAspLysAlaAsn) c.396_410dup (p.Asn137_Arg138insLysAspLysAlaAsn) c.891_905dup (p.Asn302_Arg303insLysAspLysAlaAsn) n.1557_1571dup | ClinVar |
| 10 | g.87961079_87961081delinsTAA | CA1926190105 | PTEN | c.1080_1082delinsTAA (p.Asn360=) c.987_989delinsTAA (p.Asn329=) n.1722_1724delinsTAA c.*817_*819delinsTAA (n.*817_*819delinsTAA) c.942_944delinsTAA (p.Asn314=) c.*326_*328delinsTAA (n.*326_*328delinsTAA) n.2145_2147delinsTAA n.2379_2381delinsTAA n.1756_1758delinsTAA n.624_626delinsTAA c.*1022_*1024delinsTAA (n.*1022_*1024delinsTAA) c.*573_*575delinsTAA (n.*573_*575delinsTAA) c.*1098_*1100delinsTAA (n.*1098_*1100delinsTAA) c.908_910delinsTAA c.1506_1508delinsTAA (p.Asn502=) c.414_416delinsTAA (p.Asn138=) c.396_398delinsTAA (p.Asn132=) c.891_893delinsTAA (p.Asn297=) n.1557_1559delinsTAA | |
| 10 | g.87961079_87961091dup | CA913189219 | PTEN | c.1080_1092dup (p.Asn365Ter) c.987_999dup (p.Asn334Ter) n.1722_1734dup c.*817_*829dup (n.*817_*829dup) c.942_954dup (p.Asn319Ter) c.*326_*338dup (n.*326_*338dup) n.2145_2157dup n.2379_2391dup n.1756_1768dup n.624_636dup c.*1022_*1034dup (n.*1022_*1034dup) c.*573_*585dup (n.*573_*585dup) c.*1098_*1110dup (n.*1098_*1110dup) c.908_920dup c.1506_1518dup (p.Asn507Ter) c.414_426dup (p.Asn143Ter) c.396_408dup (p.Asn137Ter) c.891_903dup (p.Asn302Ter) n.1557_1569dup | |
| 10 | g.87961080A= | CA1926190106 | PTEN | c.1081A= (p.Lys361=) c.988A= (p.Lys330=) n.1723A= c.*818A= (n.*818A=) c.943A= (p.Lys315=) c.*327A= (n.*327A=) n.2146A= n.2380A= n.1757A= n.625A= c.*1023A= (n.*1023A=) c.*574A= (n.*574A=) c.*1099A= (n.*1099A=) c.909A= c.1507A= (p.Lys503=) c.415A= (p.Lys139=) c.397A= (p.Lys133=) c.892A= (p.Lys298=) n.1558A= | |
| 10 | g.87961080A>C | CA377486089 | PTEN | c.1081A>C (p.Lys361Gln) c.988A>C (p.Lys330Gln) n.1723A>C c.*818A>C (n.*818A>C) c.943A>C (p.Lys315Gln) c.*327A>C (n.*327A>C) n.2146A>C n.2380A>C n.1757A>C n.625A>C c.*1023A>C (n.*1023A>C) c.*574A>C (n.*574A>C) c.*1099A>C (n.*1099A>C) c.909A>C c.1507A>C (p.Lys503Gln) c.415A>C (p.Lys139Gln) c.397A>C (p.Lys133Gln) c.892A>C (p.Lys298Gln) n.1558A>C | |
| 10 | g.87961080A>G | CA377486087 | PTEN | c.1081A>G (p.Lys361Glu) c.988A>G (p.Lys330Glu) n.1723A>G c.*818A>G (n.*818A>G) c.943A>G (p.Lys315Glu) c.*327A>G (n.*327A>G) n.2146A>G n.2380A>G n.1757A>G n.625A>G c.*1023A>G (n.*1023A>G) c.*574A>G (n.*574A>G) c.*1099A>G (n.*1099A>G) c.909A>G c.1507A>G (p.Lys503Glu) c.415A>G (p.Lys139Glu) c.397A>G (p.Lys133Glu) c.892A>G (p.Lys298Glu) n.1558A>G | ClinVar dbSNP gnomAD v4 |
| 10 | g.87961080A>T | CA377486088 | PTEN | c.1081A>T (p.Lys361Ter) c.988A>T (p.Lys330Ter) n.1723A>T c.*818A>T (n.*818A>T) c.943A>T (p.Lys315Ter) c.*327A>T (n.*327A>T) n.2146A>T n.2380A>T n.1757A>T n.625A>T c.*1023A>T (n.*1023A>T) c.*574A>T (n.*574A>T) c.*1099A>T (n.*1099A>T) c.909A>T c.1507A>T (p.Lys503Ter) c.415A>T (p.Lys139Ter) c.397A>T (p.Lys133Ter) c.892A>T (p.Lys298Ter) n.1558A>T | dbSNP |
| 10 | g.87961080_87961081delinsCC | CA891841328 | PTEN | c.1081_1082delinsCC (p.Lys361Pro) c.988_989delinsCC (p.Lys330Pro) n.1723_1724delinsCC c.*818_*819delinsCC (n.*818_*819delinsCC) c.943_944delinsCC (p.Lys315Pro) c.*327_*328delinsCC (n.*327_*328delinsCC) n.2146_2147delinsCC n.2380_2381delinsCC n.1757_1758delinsCC n.625_626delinsCC c.*1023_*1024delinsCC (n.*1023_*1024delinsCC) c.*574_*575delinsCC (n.*574_*575delinsCC) c.*1099_*1100delinsCC (n.*1099_*1100delinsCC) c.909_910delinsCC c.1507_1508delinsCC (p.Lys503Pro) c.415_416delinsCC (p.Lys139Pro) c.397_398delinsCC (p.Lys133Pro) c.892_893delinsCC (p.Lys298Pro) n.1558_1559delinsCC | |
| 10 | g.87961080_87961081delinsGC | CA891841331 | PTEN | c.1081_1082delinsGC (p.Lys361Ala) c.988_989delinsGC (p.Lys330Ala) n.1723_1724delinsGC c.*818_*819delinsGC (n.*818_*819delinsGC) c.943_944delinsGC (p.Lys315Ala) c.*327_*328delinsGC (n.*327_*328delinsGC) n.2146_2147delinsGC n.2380_2381delinsGC n.1757_1758delinsGC n.625_626delinsGC c.*1023_*1024delinsGC (n.*1023_*1024delinsGC) c.*574_*575delinsGC (n.*574_*575delinsGC) c.*1099_*1100delinsGC (n.*1099_*1100delinsGC) c.909_910delinsGC c.1507_1508delinsGC (p.Lys503Ala) c.415_416delinsGC (p.Lys139Ala) c.397_398delinsGC (p.Lys133Ala) c.892_893delinsGC (p.Lys298Ala) n.1558_1559delinsGC | |
| 10 | g.87961080_87961081delinsGG | CA891841330 | PTEN | c.1081_1082delinsGG (p.Lys361Gly) c.988_989delinsGG (p.Lys330Gly) n.1723_1724delinsGG c.*818_*819delinsGG (n.*818_*819delinsGG) c.943_944delinsGG (p.Lys315Gly) c.*327_*328delinsGG (n.*327_*328delinsGG) n.2146_2147delinsGG n.2380_2381delinsGG n.1757_1758delinsGG n.625_626delinsGG c.*1023_*1024delinsGG (n.*1023_*1024delinsGG) c.*574_*575delinsGG (n.*574_*575delinsGG) c.*1099_*1100delinsGG (n.*1099_*1100delinsGG) c.909_910delinsGG c.1507_1508delinsGG (p.Lys503Gly) c.415_416delinsGG (p.Lys139Gly) c.397_398delinsGG (p.Lys133Gly) c.892_893delinsGG (p.Lys298Gly) n.1558_1559delinsGG | |
| 10 | g.87961080_87961081delinsGT | CA891841326 | PTEN | c.1081_1082delinsGT (p.Lys361Val) c.988_989delinsGT (p.Lys330Val) n.1723_1724delinsGT c.*818_*819delinsGT (n.*818_*819delinsGT) c.943_944delinsGT (p.Lys315Val) c.*327_*328delinsGT (n.*327_*328delinsGT) n.2146_2147delinsGT n.2380_2381delinsGT n.1757_1758delinsGT n.625_626delinsGT c.*1023_*1024delinsGT (n.*1023_*1024delinsGT) c.*574_*575delinsGT (n.*574_*575delinsGT) c.*1099_*1100delinsGT (n.*1099_*1100delinsGT) c.909_910delinsGT c.1507_1508delinsGT (p.Lys503Val) c.415_416delinsGT (p.Lys139Val) c.397_398delinsGT (p.Lys133Val) c.892_893delinsGT (p.Lys298Val) n.1558_1559delinsGT | |
| 10 | g.87961080_87961081delinsTC | CA891841327 | PTEN | c.1081_1082delinsTC (p.Lys361Ser) c.988_989delinsTC (p.Lys330Ser) n.1723_1724delinsTC c.*818_*819delinsTC (n.*818_*819delinsTC) c.943_944delinsTC (p.Lys315Ser) c.*327_*328delinsTC (n.*327_*328delinsTC) n.2146_2147delinsTC n.2380_2381delinsTC n.1757_1758delinsTC n.625_626delinsTC c.*1023_*1024delinsTC (n.*1023_*1024delinsTC) c.*574_*575delinsTC (n.*574_*575delinsTC) c.*1099_*1100delinsTC (n.*1099_*1100delinsTC) c.909_910delinsTC c.1507_1508delinsTC (p.Lys503Ser) c.415_416delinsTC (p.Lys139Ser) c.397_398delinsTC (p.Lys133Ser) c.892_893delinsTC (p.Lys298Ser) n.1558_1559delinsTC | |
| 10 | g.87961080_87961081delinsTT | CA891841329 | PTEN | c.1081_1082delinsTT (p.Lys361Leu) c.988_989delinsTT (p.Lys330Leu) n.1723_1724delinsTT c.*818_*819delinsTT (n.*818_*819delinsTT) c.943_944delinsTT (p.Lys315Leu) c.*327_*328delinsTT (n.*327_*328delinsTT) n.2146_2147delinsTT n.2380_2381delinsTT n.1757_1758delinsTT n.625_626delinsTT c.*1023_*1024delinsTT (n.*1023_*1024delinsTT) c.*574_*575delinsTT (n.*574_*575delinsTT) c.*1099_*1100delinsTT (n.*1099_*1100delinsTT) c.909_910delinsTT c.1507_1508delinsTT (p.Lys503Leu) c.415_416delinsTT (p.Lys139Leu) c.397_398delinsTT (p.Lys133Leu) c.892_893delinsTT (p.Lys298Leu) n.1558_1559delinsTT | |
| 10 | g.87961080_87961082del | CA2579926666 | PTEN | c.1081_1083del (p.Lys361del) c.988_990del (p.Lys330del) n.1723_1725del c.*818_*820del (n.*818_*820del) c.943_945del (p.Lys315del) c.*327_*329del (n.*327_*329del) n.2146_2148del n.2380_2382del n.1757_1759del n.625_627del c.*1023_*1025del (n.*1023_*1025del) c.*574_*576del (n.*574_*576del) c.*1099_*1101del (n.*1099_*1101del) c.909_911del c.1507_1509del (p.Lys503del) c.415_417del (p.Lys139del) c.397_399del (p.Lys133del) c.892_894del (p.Lys298del) n.1558_1560del | |
| 10 | g.87961080_87961082delinsCAT | CA891836860 | PTEN | c.1081_1083delinsCAT (p.Lys361His) c.988_990delinsCAT (p.Lys330His) n.1723_1725delinsCAT c.*818_*820delinsCAT (n.*818_*820delinsCAT) c.943_945delinsCAT (p.Lys315His) c.*327_*329delinsCAT (n.*327_*329delinsCAT) n.2146_2148delinsCAT n.2380_2382delinsCAT n.1757_1759delinsCAT n.625_627delinsCAT c.*1023_*1025delinsCAT (n.*1023_*1025delinsCAT) c.*574_*576delinsCAT (n.*574_*576delinsCAT) c.*1099_*1101delinsCAT (n.*1099_*1101delinsCAT) c.909_911delinsCAT c.1507_1509delinsCAT (p.Lys503His) c.415_417delinsCAT (p.Lys139His) c.397_399delinsCAT (p.Lys133His) c.892_894delinsCAT (p.Lys298His) n.1558_1560delinsCAT | |
| 10 | g.87961080_87961082delinsGAT | CA891836859 | PTEN | c.1081_1083delinsGAT (p.Lys361Asp) c.988_990delinsGAT (p.Lys330Asp) n.1723_1725delinsGAT c.*818_*820delinsGAT (n.*818_*820delinsGAT) c.943_945delinsGAT (p.Lys315Asp) c.*327_*329delinsGAT (n.*327_*329delinsGAT) n.2146_2148delinsGAT n.2380_2382delinsGAT n.1757_1759delinsGAT n.625_627delinsGAT c.*1023_*1025delinsGAT (n.*1023_*1025delinsGAT) c.*574_*576delinsGAT (n.*574_*576delinsGAT) c.*1099_*1101delinsGAT (n.*1099_*1101delinsGAT) c.909_911delinsGAT c.1507_1509delinsGAT (p.Lys503Asp) c.415_417delinsGAT (p.Lys139Asp) c.397_399delinsGAT (p.Lys133Asp) c.892_894delinsGAT (p.Lys298Asp) n.1558_1560delinsGAT | |
| 10 | g.87961080_87961082delinsGCT | CA891836864 | PTEN | c.1081_1083delinsGCT (p.Lys361Ala) c.988_990delinsGCT (p.Lys330Ala) n.1723_1725delinsGCT c.*818_*820delinsGCT (n.*818_*820delinsGCT) c.943_945delinsGCT (p.Lys315Ala) c.*327_*329delinsGCT (n.*327_*329delinsGCT) n.2146_2148delinsGCT n.2380_2382delinsGCT n.1757_1759delinsGCT n.625_627delinsGCT c.*1023_*1025delinsGCT (n.*1023_*1025delinsGCT) c.*574_*576delinsGCT (n.*574_*576delinsGCT) c.*1099_*1101delinsGCT (n.*1099_*1101delinsGCT) c.909_911delinsGCT c.1507_1509delinsGCT (p.Lys503Ala) c.415_417delinsGCT (p.Lys139Ala) c.397_399delinsGCT (p.Lys133Ala) c.892_894delinsGCT (p.Lys298Ala) n.1558_1560delinsGCT | |
| 10 | g.87961080_87961082delinsGGT | CA891836861 | PTEN | c.1081_1083delinsGGT (p.Lys361Gly) c.988_990delinsGGT (p.Lys330Gly) n.1723_1725delinsGGT c.*818_*820delinsGGT (n.*818_*820delinsGGT) c.943_945delinsGGT (p.Lys315Gly) c.*327_*329delinsGGT (n.*327_*329delinsGGT) n.2146_2148delinsGGT n.2380_2382delinsGGT n.1757_1759delinsGGT n.625_627delinsGGT c.*1023_*1025delinsGGT (n.*1023_*1025delinsGGT) c.*574_*576delinsGGT (n.*574_*576delinsGGT) c.*1099_*1101delinsGGT (n.*1099_*1101delinsGGT) c.909_911delinsGGT c.1507_1509delinsGGT (p.Lys503Gly) c.415_417delinsGGT (p.Lys139Gly) c.397_399delinsGGT (p.Lys133Gly) c.892_894delinsGGT (p.Lys298Gly) n.1558_1560delinsGGT | |
| 10 | g.87961080_87961082delinsGTT | CA891836870 | PTEN | c.1081_1083delinsGTT (p.Lys361Val) c.988_990delinsGTT (p.Lys330Val) n.1723_1725delinsGTT c.*818_*820delinsGTT (n.*818_*820delinsGTT) c.943_945delinsGTT (p.Lys315Val) c.*327_*329delinsGTT (n.*327_*329delinsGTT) n.2146_2148delinsGTT n.2380_2382delinsGTT n.1757_1759delinsGTT n.625_627delinsGTT c.*1023_*1025delinsGTT (n.*1023_*1025delinsGTT) c.*574_*576delinsGTT (n.*574_*576delinsGTT) c.*1099_*1101delinsGTT (n.*1099_*1101delinsGTT) c.909_911delinsGTT c.1507_1509delinsGTT (p.Lys503Val) c.415_417delinsGTT (p.Lys139Val) c.397_399delinsGTT (p.Lys133Val) c.892_894delinsGTT (p.Lys298Val) n.1558_1560delinsGTT | |
| 10 | g.87961080_87961082delinsTAT | CA891836866 | PTEN | c.1081_1083delinsTAT (p.Lys361Tyr) c.988_990delinsTAT (p.Lys330Tyr) n.1723_1725delinsTAT c.*818_*820delinsTAT (n.*818_*820delinsTAT) c.943_945delinsTAT (p.Lys315Tyr) c.*327_*329delinsTAT (n.*327_*329delinsTAT) n.2146_2148delinsTAT n.2380_2382delinsTAT n.1757_1759delinsTAT n.625_627delinsTAT c.*1023_*1025delinsTAT (n.*1023_*1025delinsTAT) c.*574_*576delinsTAT (n.*574_*576delinsTAT) c.*1099_*1101delinsTAT (n.*1099_*1101delinsTAT) c.909_911delinsTAT c.1507_1509delinsTAT (p.Lys503Tyr) c.415_417delinsTAT (p.Lys139Tyr) c.397_399delinsTAT (p.Lys133Tyr) c.892_894delinsTAT (p.Lys298Tyr) n.1558_1560delinsTAT | |
| 10 | g.87961080_87961082delinsTCT | CA891836863 | PTEN | c.1081_1083delinsTCT (p.Lys361Ser) c.988_990delinsTCT (p.Lys330Ser) n.1723_1725delinsTCT c.*818_*820delinsTCT (n.*818_*820delinsTCT) c.943_945delinsTCT (p.Lys315Ser) c.*327_*329delinsTCT (n.*327_*329delinsTCT) n.2146_2148delinsTCT n.2380_2382delinsTCT n.1757_1759delinsTCT n.625_627delinsTCT c.*1023_*1025delinsTCT (n.*1023_*1025delinsTCT) c.*574_*576delinsTCT (n.*574_*576delinsTCT) c.*1099_*1101delinsTCT (n.*1099_*1101delinsTCT) c.909_911delinsTCT c.1507_1509delinsTCT (p.Lys503Ser) c.415_417delinsTCT (p.Lys139Ser) c.397_399delinsTCT (p.Lys133Ser) c.892_894delinsTCT (p.Lys298Ser) n.1558_1560delinsTCT | |
| 10 | g.87961080_87961082delinsTGG | CA891836865 | PTEN | c.1081_1083delinsTGG (p.Lys361Trp) c.988_990delinsTGG (p.Lys330Trp) n.1723_1725delinsTGG c.*818_*820delinsTGG (n.*818_*820delinsTGG) c.943_945delinsTGG (p.Lys315Trp) c.*327_*329delinsTGG (n.*327_*329delinsTGG) n.2146_2148delinsTGG n.2380_2382delinsTGG n.1757_1759delinsTGG n.625_627delinsTGG c.*1023_*1025delinsTGG (n.*1023_*1025delinsTGG) c.*574_*576delinsTGG (n.*574_*576delinsTGG) c.*1099_*1101delinsTGG (n.*1099_*1101delinsTGG) c.909_911delinsTGG c.1507_1509delinsTGG (p.Lys503Trp) c.415_417delinsTGG (p.Lys139Trp) c.397_399delinsTGG (p.Lys133Trp) c.892_894delinsTGG (p.Lys298Trp) n.1558_1560delinsTGG | |
| 10 | g.87961080_87961082delinsTGT | CA891836862 | PTEN | c.1081_1083delinsTGT (p.Lys361Cys) c.988_990delinsTGT (p.Lys330Cys) n.1723_1725delinsTGT c.*818_*820delinsTGT (n.*818_*820delinsTGT) c.943_945delinsTGT (p.Lys315Cys) c.*327_*329delinsTGT (n.*327_*329delinsTGT) n.2146_2148delinsTGT n.2380_2382delinsTGT n.1757_1759delinsTGT n.625_627delinsTGT c.*1023_*1025delinsTGT (n.*1023_*1025delinsTGT) c.*574_*576delinsTGT (n.*574_*576delinsTGT) c.*1099_*1101delinsTGT (n.*1099_*1101delinsTGT) c.909_911delinsTGT c.1507_1509delinsTGT (p.Lys503Cys) c.415_417delinsTGT (p.Lys139Cys) c.397_399delinsTGT (p.Lys133Cys) c.892_894delinsTGT (p.Lys298Cys) n.1558_1560delinsTGT | |
| 10 | g.87961080_87961082delinsTTG | CA891836858 | PTEN | c.1081_1083delinsTTG (p.Lys361Leu) c.988_990delinsTTG (p.Lys330Leu) n.1723_1725delinsTTG c.*818_*820delinsTTG (n.*818_*820delinsTTG) c.943_945delinsTTG (p.Lys315Leu) c.*327_*329delinsTTG (n.*327_*329delinsTTG) n.2146_2148delinsTTG n.2380_2382delinsTTG n.1757_1759delinsTTG n.625_627delinsTTG c.*1023_*1025delinsTTG (n.*1023_*1025delinsTTG) c.*574_*576delinsTTG (n.*574_*576delinsTTG) c.*1099_*1101delinsTTG (n.*1099_*1101delinsTTG) c.909_911delinsTTG c.1507_1509delinsTTG (p.Lys503Leu) c.415_417delinsTTG (p.Lys139Leu) c.397_399delinsTTG (p.Lys133Leu) c.892_894delinsTTG (p.Lys298Leu) n.1558_1560delinsTTG | |
| 10 | g.87961080_87961082delinsTTT | CA891836868 | PTEN | c.1081_1083delinsTTT (p.Lys361Phe) c.988_990delinsTTT (p.Lys330Phe) n.1723_1725delinsTTT c.*818_*820delinsTTT (n.*818_*820delinsTTT) c.943_945delinsTTT (p.Lys315Phe) c.*327_*329delinsTTT (n.*327_*329delinsTTT) n.2146_2148delinsTTT n.2380_2382delinsTTT n.1757_1759delinsTTT n.625_627delinsTTT c.*1023_*1025delinsTTT (n.*1023_*1025delinsTTT) c.*574_*576delinsTTT (n.*574_*576delinsTTT) c.*1099_*1101delinsTTT (n.*1099_*1101delinsTTT) c.909_911delinsTTT c.1507_1509delinsTTT (p.Lys503Phe) c.415_417delinsTTT (p.Lys139Phe) c.397_399delinsTTT (p.Lys133Phe) c.892_894delinsTTT (p.Lys298Phe) n.1558_1560delinsTTT | |
| 10 | g.87961082del | CA2695200967 | PTEN | c.1083del (p.Asp362ThrfsTer13) c.990del (p.Asp331ThrfsTer16) c.990del (p.Asp331ThrfsTer?) n.1725del c.*820del (n.*820del) c.945del (p.Asp316ThrfsTer13) c.*329del (n.*329del) n.2148del n.2382del n.1759del n.627del c.990del (p.Asp331ThrfsTer13) c.*1025del (n.*1025del) c.*576del (n.*576del) c.*1101del (n.*1101del) c.911del c.1509del (p.Asp504ThrfsTer13) c.417del (p.Asp140ThrfsTer?) c.399del (p.Asp134ThrfsTer13) c.894del (p.Asp299ThrfsTer13) n.1560del | ClinVar |
| 10 | g.87961081_87961082del | CA645554131 | PTEN | c.1082_1083del (p.Lys361ArgfsTer12) c.989_990del (p.Lys330ArgfsTer12) n.1724_1725del c.*819_*820del (n.*819_*820del) c.944_945del (p.Lys315ArgfsTer12) c.*328_*329del (n.*328_*329del) n.2147_2148del n.2381_2382del n.1758_1759del n.626_627del c.*1024_*1025del (n.*1024_*1025del) c.*575_*576del (n.*575_*576del) c.*1100_*1101del (n.*1100_*1101del) c.910_911del c.1508_1509del (p.Lys503ArgfsTer12) c.416_417del (p.Lys139ArgfsTer12) c.398_399del (p.Lys133ArgfsTer12) c.893_894del (p.Lys298ArgfsTer12) n.1559_1560del | ClinVar dbSNP COSMIC |
| 10 | g.87961081_87961084del | CA2499220472 | PTEN | c.1082_1085del (p.Lys361ThrfsTer13) c.989_992del (p.Lys330ThrfsTer16) c.989_992del (p.Lys330ThrfsTer?) n.1724_1727del c.*819_*822del (n.*819_*822del) c.944_947del (p.Lys315ThrfsTer13) c.*328_*331del (n.*328_*331del) n.2147_2150del n.2381_2384del n.1758_1761del n.626_629del c.989_992del (p.Lys330ThrfsTer13) c.*1024_*1027del (n.*1024_*1027del) c.*575_*578del (n.*575_*578del) c.*1100_*1103del (n.*1100_*1103del) c.910_913del c.1508_1511del (p.Lys503ThrfsTer13) c.416_419del (p.Lys139ThrfsTer?) c.398_401del (p.Lys133ThrfsTer13) c.893_896del (p.Lys298ThrfsTer13) n.1559_1562del | ClinVar dbSNP |
| 10 | g.87961084_87961089del | CA2580082392 | PTEN | c.1085_1090del (p.Asp362_Lys363del) c.992_997del (p.Asp331_Lys332del) n.1727_1732del c.*822_*827del (n.*822_*827del) c.947_952del (p.Asp316_Lys317del) c.*331_*336del (n.*331_*336del) n.2150_2155del n.2384_2389del n.1761_1766del n.629_634del c.*1027_*1032del (n.*1027_*1032del) c.*578_*583del (n.*578_*583del) c.*1103_*1108del (n.*1103_*1108del) c.913_918del c.1511_1516del (p.Asp504_Lys505del) c.419_424del (p.Asp140_Lys141del) c.401_406del (p.Asp134_Lys135del) c.896_901del (p.Asp299_Lys300del) n.1562_1567del | ClinVar |
| 10 | g.87961080_87961106delinsTATCCATATAGATAATTTAACTGA | CA2695200963 | PTEN | c.1081_1107delinsTATCCATATAGATAATTTAACTGA (p.Lys361TyrfsTer5) c.988_1014delinsTATCCATATAGATAATTTAACTGA (p.Lys330TyrfsTer5) n.1723_1749delinsTATCCATATAGATAATTTAACTGA c.*818_*844delinsTATCCATATAGATAATTTAACTGA (n.*818_*844delinsTATCCATATAGATAATTTAACTGA) c.943_969delinsTATCCATATAGATAATTTAACTGA (p.Lys315TyrfsTer5) c.*327_*353delinsTATCCATATAGATAATTTAACTGA (n.*327_*353delinsTATCCATATAGATAATTTAACTGA) n.2146_2172delinsTATCCATATAGATAATTTAACTGA n.2380_2406delinsTATCCATATAGATAATTTAACTGA n.1757_1783delinsTATCCATATAGATAATTTAACTGA n.625_651delinsTATCCATATAGATAATTTAACTGA c.*1023_*1049delinsTATCCATATAGATAATTTAACTGA (n.*1023_*1049delinsTATCCATATAGATAATTTAACTGA) c.*574_*600delinsTATCCATATAGATAATTTAACTGA (n.*574_*600delinsTATCCATATAGATAATTTAACTGA) c.*1099_*1125delinsTATCCATATAGATAATTTAACTGA (n.*1099_*1125delinsTATCCATATAGATAATTTAACTGA) c.909_935delinsTATCCATATAGATAATTTAACTGA c.1507_1533delinsTATCCATATAGATAATTTAACTGA (p.Lys503TyrfsTer5) c.415_441delinsTATCCATATAGATAATTTAACTGA (p.Lys139TyrfsTer5) c.397_423delinsTATCCATATAGATAATTTAACTGA (p.Lys133TyrfsTer5) c.892_918delinsTATCCATATAGATAATTTAACTGA (p.Lys298TyrfsTer5) n.1558_1584delinsTATCCATATAGATAATTTAACTGA | ClinVar |
| 10 | g.87961081A>C | CA377486090 | PTEN | c.1082A>C (p.Lys361Thr) c.989A>C (p.Lys330Thr) n.1724A>C c.*819A>C (n.*819A>C) c.944A>C (p.Lys315Thr) c.*328A>C (n.*328A>C) n.2147A>C n.2381A>C n.1758A>C n.626A>C c.*1024A>C (n.*1024A>C) c.*575A>C (n.*575A>C) c.*1100A>C (n.*1100A>C) c.910A>C c.1508A>C (p.Lys503Thr) c.416A>C (p.Lys139Thr) c.398A>C (p.Lys133Thr) c.893A>C (p.Lys298Thr) n.1559A>C | |
| 10 | g.87961081A>G | CA377486091 | PTEN | c.1082A>G (p.Lys361Arg) c.989A>G (p.Lys330Arg) n.1724A>G c.*819A>G (n.*819A>G) c.944A>G (p.Lys315Arg) c.*328A>G (n.*328A>G) n.2147A>G n.2381A>G n.1758A>G n.626A>G c.*1024A>G (n.*1024A>G) c.*575A>G (n.*575A>G) c.*1100A>G (n.*1100A>G) c.910A>G c.1508A>G (p.Lys503Arg) c.416A>G (p.Lys139Arg) c.398A>G (p.Lys133Arg) c.893A>G (p.Lys298Arg) n.1559A>G | ClinVar |
| 10 | g.87961081A>T | CA377486092 | PTEN | c.1082A>T (p.Lys361Ile) c.989A>T (p.Lys330Ile) n.1724A>T c.*819A>T (n.*819A>T) c.944A>T (p.Lys315Ile) c.*328A>T (n.*328A>T) n.2147A>T n.2381A>T n.1758A>T n.626A>T c.*1024A>T (n.*1024A>T) c.*575A>T (n.*575A>T) c.*1100A>T (n.*1100A>T) c.910A>T c.1508A>T (p.Lys503Ile) c.416A>T (p.Lys139Ile) c.398A>T (p.Lys133Ile) c.893A>T (p.Lys298Ile) n.1559A>T | dbSNP COSMIC |
| 10 | g.87961081_87961082delinsCT | CA891836871 | PTEN | c.1082_1083delinsCT (p.Lys361Thr) c.989_990delinsCT (p.Lys330Thr) n.1724_1725delinsCT c.*819_*820delinsCT (n.*819_*820delinsCT) c.944_945delinsCT (p.Lys315Thr) c.*328_*329delinsCT (n.*328_*329delinsCT) n.2147_2148delinsCT n.2381_2382delinsCT n.1758_1759delinsCT n.626_627delinsCT c.*1024_*1025delinsCT (n.*1024_*1025delinsCT) c.*575_*576delinsCT (n.*575_*576delinsCT) c.*1100_*1101delinsCT (n.*1100_*1101delinsCT) c.910_911delinsCT c.1508_1509delinsCT (p.Lys503Thr) c.416_417delinsCT (p.Lys139Thr) c.398_399delinsCT (p.Lys133Thr) c.893_894delinsCT (p.Lys298Thr) n.1559_1560delinsCT | |
| 10 | g.87961081_87961082delinsTG | CA891836873 | PTEN | c.1082_1083delinsTG (p.Lys361Met) c.989_990delinsTG (p.Lys330Met) n.1724_1725delinsTG c.*819_*820delinsTG (n.*819_*820delinsTG) c.944_945delinsTG (p.Lys315Met) c.*328_*329delinsTG (n.*328_*329delinsTG) n.2147_2148delinsTG n.2381_2382delinsTG n.1758_1759delinsTG n.626_627delinsTG c.*1024_*1025delinsTG (n.*1024_*1025delinsTG) c.*575_*576delinsTG (n.*575_*576delinsTG) c.*1100_*1101delinsTG (n.*1100_*1101delinsTG) c.910_911delinsTG c.1508_1509delinsTG (p.Lys503Met) c.416_417delinsTG (p.Lys139Met) c.398_399delinsTG (p.Lys133Met) c.893_894delinsTG (p.Lys298Met) n.1559_1560delinsTG | |
| 10 | g.87961081_87961082delinsTT | CA891836872 | PTEN | c.1082_1083delinsTT (p.Lys361Ile) c.989_990delinsTT (p.Lys330Ile) n.1724_1725delinsTT c.*819_*820delinsTT (n.*819_*820delinsTT) c.944_945delinsTT (p.Lys315Ile) c.*328_*329delinsTT (n.*328_*329delinsTT) n.2147_2148delinsTT n.2381_2382delinsTT n.1758_1759delinsTT n.626_627delinsTT c.*1024_*1025delinsTT (n.*1024_*1025delinsTT) c.*575_*576delinsTT (n.*575_*576delinsTT) c.*1100_*1101delinsTT (n.*1100_*1101delinsTT) c.910_911delinsTT c.1508_1509delinsTT (p.Lys503Ile) c.416_417delinsTT (p.Lys139Ile) c.398_399delinsTT (p.Lys133Ile) c.893_894delinsTT (p.Lys298Ile) n.1559_1560delinsTT | |
| 10 | g.87961081_87961083delinsAAG | CA1926190107 | PTEN | c.1082_1084delinsAAG (p.Lys361=) c.989_991delinsAAG (p.Lys330=) n.1724_1726delinsAAG c.*819_*821delinsAAG (n.*819_*821delinsAAG) c.944_946delinsAAG (p.Lys315=) c.*328_*330delinsAAG (n.*328_*330delinsAAG) n.2147_2149delinsAAG n.2381_2383delinsAAG n.1758_1760delinsAAG n.626_628delinsAAG c.*1024_*1026delinsAAG (n.*1024_*1026delinsAAG) c.*575_*577delinsAAG (n.*575_*577delinsAAG) c.*1100_*1102delinsAAG (n.*1100_*1102delinsAAG) c.910_912delinsAAG c.1508_1510delinsAAG (p.Lys503=) c.416_418delinsAAG (p.Lys139=) c.398_400delinsAAG (p.Lys133=) c.893_895delinsAAG (p.Lys298=) n.1559_1561delinsAAG |