UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.87925515_87933253del | CA645553740 | PTEN | c.167_492+2del n.902_1227+2del c.167_*322+2del c.165-5531_447+2del c.*202_*527+2del c.*278_*603+2del c.36_413+2del c.686_1011+2del c.65_390+2del c.-541-5531_-259+2del c.71_396+2del n.879_1204+2del | COSMIC |
| 10 | g.87933120_87933194del | CA645553819 | PTEN | c.361_435del (p.Ala121_Phe145del) n.1096_1170del c.*191_*265del (n.*191_*265del) c.316_390del (p.Ala106_Phe130del) c.195_269del c.*396_*470del (n.*396_*470del) c.*472_*546del (n.*472_*546del) c.282_356del c.880_954del (p.Ala294_Phe318del) n.187_261del c.259_333del (p.Ala87_Phe111del) c.-390_-316del (n.-390_-316del) c.265_339del (p.Ala89_Phe113del) n.1073_1147del | COSMIC |
| 10 | g.87933129_87933204dup | CA2695200989 | PTEN | c.370_445dup (p.Gln149LeufsTer2) n.1105_1180dup c.*200_*275dup (n.*200_*275dup) c.325_400dup (p.Gln134LeufsTer2) c.204_279dup c.*405_*480dup (n.*405_*480dup) c.*481_*556dup (n.*481_*556dup) c.291_366dup c.889_964dup (p.Gln322LeufsTer2) n.196_271dup c.268_343dup (p.Gln115LeufsTer2) c.-381_-306dup (n.-381_-306dup) c.274_349dup (p.Gln117LeufsTer2) n.1082_1157dup | ClinVar |
| 10 | g.87933146_87933186del | CA2697558582 | PTEN | c.387_427del (p.Arg130GlnfsTer?) n.1122_1162del c.*217_*257del (n.*217_*257del) c.342_382del (p.Arg115GlnfsTer?) c.221_261del c.*422_*462del (n.*422_*462del) c.*498_*538del (n.*498_*538del) c.308_348del c.906_946del (p.Arg303GlnfsTer?) n.213_253del c.285_325del (p.Arg96GlnfsTer?) c.-364_-324del (n.-364_-324del) c.291_331del (p.Arg98GlnfsTer?) n.1099_1139del | ClinVar |
| 10 | g.87933148_87933248del | CA913203497 | PTEN | c.389_489del (p.Arg130GlnfsTer16) n.1124_1224del c.*219_*319del (n.*219_*319del) c.344_444del (p.Arg115GlnfsTer16) c.389_489del (p.Arg130GlnfsTer?) c.223_323del c.*424_*524del (n.*424_*524del) c.389_489del (p.Arg130GlnfsTer11) c.*500_*600del (n.*500_*600del) c.310_410del c.908_1008del (p.Arg303GlnfsTer16) n.215_315del c.287_387del (p.Arg96GlnfsTer11) c.-362_-262del (n.-362_-262del) c.293_393del (p.Arg98GlnfsTer16) n.1101_1201del | |
| 10 | g.87933151_87933170del | CA645553835 | PTEN | c.392_411del (p.Thr131IlefsTer?) n.1127_1146del c.*222_*241del (n.*222_*241del) c.347_366del (p.Thr116IlefsTer?) c.226_245del c.*427_*446del (n.*427_*446del) c.*503_*522del (n.*503_*522del) c.313_332del c.911_930del (p.Thr304IlefsTer?) n.218_237del c.290_309del (p.Thr97IlefsTer?) c.-359_-340del (n.-359_-340del) c.296_315del (p.Thr99IlefsTer?) n.1104_1123del | COSMIC |
| 10 | g.87933157_87933162delinsTAATGA | CA1926175382 | PTEN | c.398_403delinsTAATGA (p.Val133=) n.1133_1138delinsTAATGA c.*228_*233delinsTAATGA (n.*228_*233delinsTAATGA) c.353_358delinsTAATGA (p.Val118=) c.232_237delinsTAATGA c.*433_*438delinsTAATGA (n.*433_*438delinsTAATGA) c.*509_*514delinsTAATGA (n.*509_*514delinsTAATGA) c.319_324delinsTAATGA c.917_922delinsTAATGA (p.Val306=) n.224_229delinsTAATGA c.296_301delinsTAATGA (p.Val99=) c.-353_-348delinsTAATGA (n.-353_-348delinsTAATGA) c.302_307delinsTAATGA (p.Val101=) n.1110_1115delinsTAATGA | |
| 10 | g.87933158_87933161delinsAATG | CA1926175388 | PTEN | c.399_402delinsAATG (p.Val133=) n.1134_1137delinsAATG c.*229_*232delinsAATG (n.*229_*232delinsAATG) c.354_357delinsAATG (p.Val118=) c.233_236delinsAATG c.*434_*437delinsAATG (n.*434_*437delinsAATG) c.*510_*513delinsAATG (n.*510_*513delinsAATG) c.320_323delinsAATG c.918_921delinsAATG (p.Val306=) n.225_228delinsAATG c.297_300delinsAATG (p.Val99=) c.-352_-349delinsAATG (n.-352_-349delinsAATG) c.303_306delinsAATG (p.Val101=) n.1111_1114delinsAATG | |
| 10 | g.87933158_87933162del | CA658656090 | PTEN | c.399_403del (p.Ile135CysfsTer?) n.1134_1138del c.*229_*233del (n.*229_*233del) c.354_358del (p.Ile120CysfsTer?) c.233_237del c.*434_*438del (n.*434_*438del) c.*510_*514del (n.*510_*514del) c.320_324del c.918_922del (p.Ile308CysfsTer?) n.225_229del c.297_301del (p.Ile101CysfsTer?) c.-352_-348del (n.-352_-348del) c.303_307del (p.Ile103CysfsTer?) n.1111_1115del | ClinVar dbSNP |
| 10 | g.87933159_87933160delinsCA | CA891841054 | PTEN | c.400_401delinsCA (p.Met134Gln) n.1135_1136delinsCA c.*230_*231delinsCA (n.*230_*231delinsCA) c.355_356delinsCA (p.Met119Gln) c.234_235delinsCA c.*435_*436delinsCA (n.*435_*436delinsCA) c.*511_*512delinsCA (n.*511_*512delinsCA) c.321_322delinsCA c.919_920delinsCA (p.Met307Gln) n.226_227delinsCA c.298_299delinsCA (p.Met100Gln) c.-351_-350delinsCA (n.-351_-350delinsCA) c.304_305delinsCA (p.Met102Gln) n.1112_1113delinsCA | |
| 10 | g.87933159_87933160delinsGA | CA891841057 | PTEN | c.400_401delinsGA (p.Met134Glu) n.1135_1136delinsGA c.*230_*231delinsGA (n.*230_*231delinsGA) c.355_356delinsGA (p.Met119Glu) c.234_235delinsGA c.*435_*436delinsGA (n.*435_*436delinsGA) c.*511_*512delinsGA (n.*511_*512delinsGA) c.321_322delinsGA c.919_920delinsGA (p.Met307Glu) n.226_227delinsGA c.298_299delinsGA (p.Met100Glu) c.-351_-350delinsGA (n.-351_-350delinsGA) c.304_305delinsGA (p.Met102Glu) n.1112_1113delinsGA | |
| 10 | g.87933159_87933160delinsGC | CA891841059 | PTEN | c.400_401delinsGC (p.Met134Ala) n.1135_1136delinsGC c.*230_*231delinsGC (n.*230_*231delinsGC) c.355_356delinsGC (p.Met119Ala) c.234_235delinsGC c.*435_*436delinsGC (n.*435_*436delinsGC) c.*511_*512delinsGC (n.*511_*512delinsGC) c.321_322delinsGC c.919_920delinsGC (p.Met307Ala) n.226_227delinsGC c.298_299delinsGC (p.Met100Ala) c.-351_-350delinsGC (n.-351_-350delinsGC) c.304_305delinsGC (p.Met102Ala) n.1112_1113delinsGC | |
| 10 | g.87933159_87933160delinsGG | CA891841055 | PTEN | c.400_401delinsGG (p.Met134Gly) n.1135_1136delinsGG c.*230_*231delinsGG (n.*230_*231delinsGG) c.355_356delinsGG (p.Met119Gly) c.234_235delinsGG c.*435_*436delinsGG (n.*435_*436delinsGG) c.*511_*512delinsGG (n.*511_*512delinsGG) c.321_322delinsGG c.919_920delinsGG (p.Met307Gly) n.226_227delinsGG c.298_299delinsGG (p.Met100Gly) c.-351_-350delinsGG (n.-351_-350delinsGG) c.304_305delinsGG (p.Met102Gly) n.1112_1113delinsGG | |
| 10 | g.87933159_87933160delinsTA | CA891841052 | PTEN | c.400_401delinsTA (p.Met134Ter) n.1135_1136delinsTA c.*230_*231delinsTA (n.*230_*231delinsTA) c.355_356delinsTA (p.Met119Ter) c.234_235delinsTA c.*435_*436delinsTA (n.*435_*436delinsTA) c.*511_*512delinsTA (n.*511_*512delinsTA) c.321_322delinsTA c.919_920delinsTA (p.Met307Ter) n.226_227delinsTA c.298_299delinsTA (p.Met100Ter) c.-351_-350delinsTA (n.-351_-350delinsTA) c.304_305delinsTA (p.Met102Ter) n.1112_1113delinsTA | |
| 10 | g.87933159_87933160delinsTC | CA891841053 | PTEN | c.400_401delinsTC (p.Met134Ser) n.1135_1136delinsTC c.*230_*231delinsTC (n.*230_*231delinsTC) c.355_356delinsTC (p.Met119Ser) c.234_235delinsTC c.*435_*436delinsTC (n.*435_*436delinsTC) c.*511_*512delinsTC (n.*511_*512delinsTC) c.321_322delinsTC c.919_920delinsTC (p.Met307Ser) n.226_227delinsTC c.298_299delinsTC (p.Met100Ser) c.-351_-350delinsTC (n.-351_-350delinsTC) c.304_305delinsTC (p.Met102Ser) n.1112_1113delinsTC | |
| 10 | g.87933159_87933160delinsTG | CA891837816 | PTEN | c.400_401delinsTG (p.Met134Trp) n.1135_1136delinsTG c.*230_*231delinsTG (n.*230_*231delinsTG) c.355_356delinsTG (p.Met119Trp) c.234_235delinsTG c.*435_*436delinsTG (n.*435_*436delinsTG) c.*511_*512delinsTG (n.*511_*512delinsTG) c.321_322delinsTG c.919_920delinsTG (p.Met307Trp) n.226_227delinsTG c.298_299delinsTG (p.Met100Trp) c.-351_-350delinsTG (n.-351_-350delinsTG) c.304_305delinsTG (p.Met102Trp) n.1112_1113delinsTG | |
| 10 | g.87933159_87933161delinsCAA | CA891837807 | PTEN | c.400_402delinsCAA (p.Met134Gln) n.1135_1137delinsCAA c.*230_*232delinsCAA (n.*230_*232delinsCAA) c.355_357delinsCAA (p.Met119Gln) c.234_236delinsCAA c.*435_*437delinsCAA (n.*435_*437delinsCAA) c.*511_*513delinsCAA (n.*511_*513delinsCAA) c.321_323delinsCAA c.919_921delinsCAA (p.Met307Gln) n.226_228delinsCAA c.298_300delinsCAA (p.Met100Gln) c.-351_-349delinsCAA (n.-351_-349delinsCAA) c.304_306delinsCAA (p.Met102Gln) n.1112_1114delinsCAA | |
| 10 | g.87933159_87933161delinsCAT | CA891837812 | PTEN | c.400_402delinsCAT (p.Met134His) n.1135_1137delinsCAT c.*230_*232delinsCAT (n.*230_*232delinsCAT) c.355_357delinsCAT (p.Met119His) c.234_236delinsCAT c.*435_*437delinsCAT (n.*435_*437delinsCAT) c.*511_*513delinsCAT (n.*511_*513delinsCAT) c.321_323delinsCAT c.919_921delinsCAT (p.Met307His) n.226_228delinsCAT c.298_300delinsCAT (p.Met100His) c.-351_-349delinsCAT (n.-351_-349delinsCAT) c.304_306delinsCAT (p.Met102His) n.1112_1114delinsCAT | |
| 10 | g.87933159_87933161delinsCCA | CA891837811 | PTEN | c.400_402delinsCCA (p.Met134Pro) n.1135_1137delinsCCA c.*230_*232delinsCCA (n.*230_*232delinsCCA) c.355_357delinsCCA (p.Met119Pro) c.234_236delinsCCA c.*435_*437delinsCCA (n.*435_*437delinsCCA) c.*511_*513delinsCCA (n.*511_*513delinsCCA) c.321_323delinsCCA c.919_921delinsCCA (p.Met307Pro) n.226_228delinsCCA c.298_300delinsCCA (p.Met100Pro) c.-351_-349delinsCCA (n.-351_-349delinsCCA) c.304_306delinsCCA (p.Met102Pro) n.1112_1114delinsCCA | |
| 10 | g.87933159_87933161delinsGAA | CA891837814 | PTEN | c.400_402delinsGAA (p.Met134Glu) n.1135_1137delinsGAA c.*230_*232delinsGAA (n.*230_*232delinsGAA) c.355_357delinsGAA (p.Met119Glu) c.234_236delinsGAA c.*435_*437delinsGAA (n.*435_*437delinsGAA) c.*511_*513delinsGAA (n.*511_*513delinsGAA) c.321_323delinsGAA c.919_921delinsGAA (p.Met307Glu) n.226_228delinsGAA c.298_300delinsGAA (p.Met100Glu) c.-351_-349delinsGAA (n.-351_-349delinsGAA) c.304_306delinsGAA (p.Met102Glu) n.1112_1114delinsGAA | |
| 10 | g.87933159_87933161delinsGAT | CA891837813 | PTEN | c.400_402delinsGAT (p.Met134Asp) n.1135_1137delinsGAT c.*230_*232delinsGAT (n.*230_*232delinsGAT) c.355_357delinsGAT (p.Met119Asp) c.234_236delinsGAT c.*435_*437delinsGAT (n.*435_*437delinsGAT) c.*511_*513delinsGAT (n.*511_*513delinsGAT) c.321_323delinsGAT c.919_921delinsGAT (p.Met307Asp) n.226_228delinsGAT c.298_300delinsGAT (p.Met100Asp) c.-351_-349delinsGAT (n.-351_-349delinsGAT) c.304_306delinsGAT (p.Met102Asp) n.1112_1114delinsGAT | |
| 10 | g.87933159_87933161delinsGCT | CA891837823 | PTEN | c.400_402delinsGCT (p.Met134Ala) n.1135_1137delinsGCT c.*230_*232delinsGCT (n.*230_*232delinsGCT) c.355_357delinsGCT (p.Met119Ala) c.234_236delinsGCT c.*435_*437delinsGCT (n.*435_*437delinsGCT) c.*511_*513delinsGCT (n.*511_*513delinsGCT) c.321_323delinsGCT c.919_921delinsGCT (p.Met307Ala) n.226_228delinsGCT c.298_300delinsGCT (p.Met100Ala) c.-351_-349delinsGCT (n.-351_-349delinsGCT) c.304_306delinsGCT (p.Met102Ala) n.1112_1114delinsGCT | |
| 10 | g.87933159_87933161delinsGGT | CA891837810 | PTEN | c.400_402delinsGGT (p.Met134Gly) n.1135_1137delinsGGT c.*230_*232delinsGGT (n.*230_*232delinsGGT) c.355_357delinsGGT (p.Met119Gly) c.234_236delinsGGT c.*435_*437delinsGGT (n.*435_*437delinsGGT) c.*511_*513delinsGGT (n.*511_*513delinsGGT) c.321_323delinsGGT c.919_921delinsGGT (p.Met307Gly) n.226_228delinsGGT c.298_300delinsGGT (p.Met100Gly) c.-351_-349delinsGGT (n.-351_-349delinsGGT) c.304_306delinsGGT (p.Met102Gly) n.1112_1114delinsGGT | |
| 10 | g.87933159_87933161delinsGTT | CA891837825 | PTEN | c.400_402delinsGTT (p.Met134Val) n.1135_1137delinsGTT c.*230_*232delinsGTT (n.*230_*232delinsGTT) c.355_357delinsGTT (p.Met119Val) c.234_236delinsGTT c.*435_*437delinsGTT (n.*435_*437delinsGTT) c.*511_*513delinsGTT (n.*511_*513delinsGTT) c.321_323delinsGTT c.919_921delinsGTT (p.Met307Val) n.226_228delinsGTT c.298_300delinsGTT (p.Met100Val) c.-351_-349delinsGTT (n.-351_-349delinsGTT) c.304_306delinsGTT (p.Met102Val) n.1112_1114delinsGTT | |
| 10 | g.87933159_87933161delinsTAA | CA891837815 | PTEN | c.400_402delinsTAA (p.Met134Ter) n.1135_1137delinsTAA c.*230_*232delinsTAA (n.*230_*232delinsTAA) c.355_357delinsTAA (p.Met119Ter) c.234_236delinsTAA c.*435_*437delinsTAA (n.*435_*437delinsTAA) c.*511_*513delinsTAA (n.*511_*513delinsTAA) c.321_323delinsTAA c.919_921delinsTAA (p.Met307Ter) n.226_228delinsTAA c.298_300delinsTAA (p.Met100Ter) c.-351_-349delinsTAA (n.-351_-349delinsTAA) c.304_306delinsTAA (p.Met102Ter) n.1112_1114delinsTAA | |
| 10 | g.87933159_87933161delinsTAT | CA891837822 | PTEN | c.400_402delinsTAT (p.Met134Tyr) n.1135_1137delinsTAT c.*230_*232delinsTAT (n.*230_*232delinsTAT) c.355_357delinsTAT (p.Met119Tyr) c.234_236delinsTAT c.*435_*437delinsTAT (n.*435_*437delinsTAT) c.*511_*513delinsTAT (n.*511_*513delinsTAT) c.321_323delinsTAT c.919_921delinsTAT (p.Met307Tyr) n.226_228delinsTAT c.298_300delinsTAT (p.Met100Tyr) c.-351_-349delinsTAT (n.-351_-349delinsTAT) c.304_306delinsTAT (p.Met102Tyr) n.1112_1114delinsTAT | |
| 10 | g.87933159_87933161delinsTCT | CA891837818 | PTEN | c.400_402delinsTCT (p.Met134Ser) n.1135_1137delinsTCT c.*230_*232delinsTCT (n.*230_*232delinsTCT) c.355_357delinsTCT (p.Met119Ser) c.234_236delinsTCT c.*435_*437delinsTCT (n.*435_*437delinsTCT) c.*511_*513delinsTCT (n.*511_*513delinsTCT) c.321_323delinsTCT c.919_921delinsTCT (p.Met307Ser) n.226_228delinsTCT c.298_300delinsTCT (p.Met100Ser) c.-351_-349delinsTCT (n.-351_-349delinsTCT) c.304_306delinsTCT (p.Met102Ser) n.1112_1114delinsTCT | |
| 10 | g.87933159_87933161delinsTGT | CA891837808 | PTEN | c.400_402delinsTGT (p.Met134Cys) n.1135_1137delinsTGT c.*230_*232delinsTGT (n.*230_*232delinsTGT) c.355_357delinsTGT (p.Met119Cys) c.234_236delinsTGT c.*435_*437delinsTGT (n.*435_*437delinsTGT) c.*511_*513delinsTGT (n.*511_*513delinsTGT) c.321_323delinsTGT c.919_921delinsTGT (p.Met307Cys) n.226_228delinsTGT c.298_300delinsTGT (p.Met100Cys) c.-351_-349delinsTGT (n.-351_-349delinsTGT) c.304_306delinsTGT (p.Met102Cys) n.1112_1114delinsTGT | |
| 10 | g.87933159_87933161delinsTTT | CA891841056 | PTEN | c.400_402delinsTTT (p.Met134Phe) n.1135_1137delinsTTT c.*230_*232delinsTTT (n.*230_*232delinsTTT) c.355_357delinsTTT (p.Met119Phe) c.234_236delinsTTT c.*435_*437delinsTTT (n.*435_*437delinsTTT) c.*511_*513delinsTTT (n.*511_*513delinsTTT) c.321_323delinsTTT c.919_921delinsTTT (p.Met307Phe) n.226_228delinsTTT c.298_300delinsTTT (p.Met100Phe) c.-351_-349delinsTTT (n.-351_-349delinsTTT) c.304_306delinsTTT (p.Met102Phe) n.1112_1114delinsTTT | |
| 10 | g.87933161_87933163del | CA645553837 | PTEN | c.402_404del (p.Met134del) n.1137_1139del c.*232_*234del (n.*232_*234del) c.357_359del (p.Met119del) c.236_238del c.*437_*439del (n.*437_*439del) c.*513_*515del (n.*513_*515del) c.323_325del c.921_923del (p.Met307del) n.228_230del c.300_302del (p.Met100del) c.-349_-347del (n.-349_-347del) c.306_308del (p.Met102del) n.1114_1116del | ClinVar dbSNP COSMIC |
| 10 | g.87933162_87933166del | CA2695212446 | PTEN | c.403_407del (p.Ile135CysfsTer?) n.1138_1142del c.*233_*237del (n.*233_*237del) c.358_362del (p.Ile120CysfsTer?) c.237_241del c.*438_*442del (n.*438_*442del) c.*514_*518del (n.*514_*518del) c.324_328del c.922_926del (p.Ile308CysfsTer?) n.229_233del c.301_305del (p.Ile101CysfsTer?) c.-348_-344del (n.-348_-344del) c.307_311del (p.Ile103CysfsTer?) n.1115_1119del | |
| 10 | g.87933160T>A | CA377482336 | PTEN | c.401T>A (p.Met134Lys) n.1136T>A c.*231T>A (n.*231T>A) c.356T>A (p.Met119Lys) c.235T>A c.*436T>A (n.*436T>A) c.*512T>A (n.*512T>A) c.322T>A c.920T>A (p.Met307Lys) n.227T>A c.299T>A (p.Met100Lys) c.-350T>A (n.-350T>A) c.305T>A (p.Met102Lys) n.1113T>A | ClinVar dbSNP |
| 10 | g.87933160T>C | CA377482338 | PTEN | c.401T>C (p.Met134Thr) n.1136T>C c.*231T>C (n.*231T>C) c.356T>C (p.Met119Thr) c.235T>C c.*436T>C (n.*436T>C) c.*512T>C (n.*512T>C) c.322T>C c.920T>C (p.Met307Thr) n.227T>C c.299T>C (p.Met100Thr) c.-350T>C (n.-350T>C) c.305T>C (p.Met102Thr) n.1113T>C | ClinVar dbSNP gnomAD v4 COSMIC |
| 10 | g.87933160T>G | CA377482337 | PTEN | c.401T>G (p.Met134Arg) n.1136T>G c.*231T>G (n.*231T>G) c.356T>G (p.Met119Arg) c.235T>G c.*436T>G (n.*436T>G) c.*512T>G (n.*512T>G) c.322T>G c.920T>G (p.Met307Arg) n.227T>G c.299T>G (p.Met100Arg) c.-350T>G (n.-350T>G) c.305T>G (p.Met102Arg) n.1113T>G | ClinVar dbSNP COSMIC |
| 10 | g.87933160T= | CA1926175416 | PTEN | c.401T= (p.Met134=) n.1136T= c.*231T= (n.*231T=) c.356T= (p.Met119=) c.235T= c.*436T= (n.*436T=) c.*512T= (n.*512T=) c.322T= c.920T= (p.Met307=) n.227T= c.299T= (p.Met100=) c.-350T= (n.-350T=) c.305T= (p.Met102=) n.1113T= | |
| 10 | g.87933160_87933161delinsA | CA2697558588 | PTEN | c.401_402delinsA (p.Met134LysfsTer13) n.1136_1137delinsA c.*231_*232delinsA (n.*231_*232delinsA) c.356_357delinsA (p.Met119LysfsTer13) c.235_236delinsA c.*436_*437delinsA (n.*436_*437delinsA) c.*512_*513delinsA (n.*512_*513delinsA) c.322_323delinsA c.920_921delinsA (p.Met307LysfsTer13) n.227_228delinsA c.299_300delinsA (p.Met100LysfsTer13) c.-350_-349delinsA (n.-350_-349delinsA) c.305_306delinsA (p.Met102LysfsTer13) n.1113_1114delinsA | ClinVar |
| 10 | g.87933160_87933161delinsAA | CA891837840 | PTEN | c.401_402delinsAA (p.Met134Lys) n.1136_1137delinsAA c.*231_*232delinsAA (n.*231_*232delinsAA) c.356_357delinsAA (p.Met119Lys) c.235_236delinsAA c.*436_*437delinsAA (n.*436_*437delinsAA) c.*512_*513delinsAA (n.*512_*513delinsAA) c.322_323delinsAA c.920_921delinsAA (p.Met307Lys) n.227_228delinsAA c.299_300delinsAA (p.Met100Lys) c.-350_-349delinsAA (n.-350_-349delinsAA) c.305_306delinsAA (p.Met102Lys) n.1113_1114delinsAA | |
| 10 | g.87933160_87933161delinsAT | CA891837838 | PTEN | c.401_402delinsAT (p.Met134Asn) n.1136_1137delinsAT c.*231_*232delinsAT (n.*231_*232delinsAT) c.356_357delinsAT (p.Met119Asn) c.235_236delinsAT c.*436_*437delinsAT (n.*436_*437delinsAT) c.*512_*513delinsAT (n.*512_*513delinsAT) c.322_323delinsAT c.920_921delinsAT (p.Met307Asn) n.227_228delinsAT c.299_300delinsAT (p.Met100Asn) c.-350_-349delinsAT (n.-350_-349delinsAT) c.305_306delinsAT (p.Met102Asn) n.1113_1114delinsAT | |
| 10 | g.87933160_87933161delinsCT | CA891837836 | PTEN | c.401_402delinsCT (p.Met134Thr) n.1136_1137delinsCT c.*231_*232delinsCT (n.*231_*232delinsCT) c.356_357delinsCT (p.Met119Thr) c.235_236delinsCT c.*436_*437delinsCT (n.*436_*437delinsCT) c.*512_*513delinsCT (n.*512_*513delinsCT) c.322_323delinsCT c.920_921delinsCT (p.Met307Thr) n.227_228delinsCT c.299_300delinsCT (p.Met100Thr) c.-350_-349delinsCT (n.-350_-349delinsCT) c.305_306delinsCT (p.Met102Thr) n.1113_1114delinsCT | |
| 10 | g.87933160_87933161delinsGA | CA891837841 | PTEN | c.401_402delinsGA (p.Met134Arg) n.1136_1137delinsGA c.*231_*232delinsGA (n.*231_*232delinsGA) c.356_357delinsGA (p.Met119Arg) c.235_236delinsGA c.*436_*437delinsGA (n.*436_*437delinsGA) c.*512_*513delinsGA (n.*512_*513delinsGA) c.322_323delinsGA c.920_921delinsGA (p.Met307Arg) n.227_228delinsGA c.299_300delinsGA (p.Met100Arg) c.-350_-349delinsGA (n.-350_-349delinsGA) c.305_306delinsGA (p.Met102Arg) n.1113_1114delinsGA | |
| 10 | g.87933161G>A | CA377482339 | PTEN | c.402G>A (p.Met134Ile) n.1137G>A c.*232G>A (n.*232G>A) c.357G>A (p.Met119Ile) c.236G>A c.*437G>A (n.*437G>A) c.*513G>A (n.*513G>A) c.323G>A c.921G>A (p.Met307Ile) n.228G>A c.300G>A (p.Met100Ile) c.-349G>A (n.-349G>A) c.306G>A (p.Met102Ile) n.1114G>A | ClinVar dbSNP COSMIC |
| 10 | g.87933161G>C | CA377482340 | PTEN | c.402G>C (p.Met134Ile) n.1137G>C c.*232G>C (n.*232G>C) c.357G>C (p.Met119Ile) c.236G>C c.*437G>C (n.*437G>C) c.*513G>C (n.*513G>C) c.323G>C c.921G>C (p.Met307Ile) n.228G>C c.300G>C (p.Met100Ile) c.-349G>C (n.-349G>C) c.306G>C (p.Met102Ile) n.1114G>C | ClinVar dbSNP COSMIC |
| 10 | g.87933161G= | CA1926175428 | PTEN | c.402G= (p.Met134=) n.1137G= c.*232G= (n.*232G=) c.357G= (p.Met119=) c.236G= c.*437G= (n.*437G=) c.*513G= (n.*513G=) c.323G= c.921G= (p.Met307=) n.228G= c.300G= (p.Met100=) c.-349G= (n.-349G=) c.306G= (p.Met102=) n.1114G= | |
| 10 | g.87933161G>T | CA377482341 | PTEN | c.402G>T (p.Met134Ile) n.1137G>T c.*232G>T (n.*232G>T) c.357G>T (p.Met119Ile) c.236G>T c.*437G>T (n.*437G>T) c.*513G>T (n.*513G>T) c.323G>T c.921G>T (p.Met307Ile) n.228G>T c.300G>T (p.Met100Ile) c.-349G>T (n.-349G>T) c.306G>T (p.Met102Ile) n.1114G>T | ClinVar dbSNP COSMIC |
| 10 | g.87933162A= | CA1926175451 | PTEN | c.403A= (p.Ile135=) n.1138A= c.*233A= (n.*233A=) c.358A= (p.Ile120=) c.237A= c.*438A= (n.*438A=) c.*514A= (n.*514A=) c.324A= c.922A= (p.Ile308=) n.229A= c.301A= (p.Ile101=) c.-348A= (n.-348A=) c.307A= (p.Ile103=) n.1115A= | |
| 10 | g.87933162A>C | CA377482342 | PTEN | c.403A>C (p.Ile135Leu) n.1138A>C c.*233A>C (n.*233A>C) c.358A>C (p.Ile120Leu) c.237A>C c.*438A>C (n.*438A>C) c.*514A>C (n.*514A>C) c.324A>C c.922A>C (p.Ile308Leu) n.229A>C c.301A>C (p.Ile101Leu) c.-348A>C (n.-348A>C) c.307A>C (p.Ile103Leu) n.1115A>C | |
| 10 | g.87933162A>G | CA000448 | PTEN | c.403A>G (p.Ile135Val) n.1138A>G c.*233A>G (n.*233A>G) c.358A>G (p.Ile120Val) c.237A>G c.*438A>G (n.*438A>G) c.*514A>G (n.*514A>G) c.324A>G c.922A>G (p.Ile308Val) n.229A>G c.301A>G (p.Ile101Val) c.-348A>G (n.-348A>G) c.307A>G (p.Ile103Val) n.1115A>G | ClinVar dbSNP COSMIC |
| 10 | g.87933162A>T | CA377482343 | PTEN | c.403A>T (p.Ile135Leu) n.1138A>T c.*233A>T (n.*233A>T) c.358A>T (p.Ile120Leu) c.237A>T c.*438A>T (n.*438A>T) c.*514A>T (n.*514A>T) c.324A>T c.922A>T (p.Ile308Leu) n.229A>T c.301A>T (p.Ile101Leu) c.-348A>T (n.-348A>T) c.307A>T (p.Ile103Leu) n.1115A>T | dbSNP |
| 10 | g.87933162dup | CA2697558589 | PTEN | c.403dup (p.Ile135AsnfsTer?) n.1138dup c.*233dup (n.*233dup) c.358dup (p.Ile120AsnfsTer?) c.237dup c.*438dup (n.*438dup) c.*514dup (n.*514dup) c.324dup c.922dup (p.Ile308AsnfsTer?) n.229dup c.301dup (p.Ile101AsnfsTer?) c.-348dup (n.-348dup) c.307dup (p.Ile103AsnfsTer?) n.1115dup | ClinVar |
| 10 | g.87933162_87933163delinsCA | CA891837864 | PTEN | c.403_404delinsCA (p.Ile135Gln) n.1138_1139delinsCA c.*233_*234delinsCA (n.*233_*234delinsCA) c.358_359delinsCA (p.Ile120Gln) c.237_238delinsCA c.*438_*439delinsCA (n.*438_*439delinsCA) c.*514_*515delinsCA (n.*514_*515delinsCA) c.324_325delinsCA c.922_923delinsCA (p.Ile308Gln) n.229_230delinsCA c.301_302delinsCA (p.Ile101Gln) c.-348_-347delinsCA (n.-348_-347delinsCA) c.307_308delinsCA (p.Ile103Gln) n.1115_1116delinsCA |