Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.68295183_68295198delinsTCAGTGAAATTATTGA | CA1553406139 | PIK3R1 | c.704_719delinsTCAGTGAAATTATTGA (p.Ile235=) c.794_809delinsTCAGTGAAATTATTGA (p.Ile265=) c.1604_1619delinsTCAGTGAAATTATTGA (p.Ile535=) c.*574_*589delinsTCAGTGAAATTATTGA (n.*574_*589delinsTCAGTGAAATTATTGA) c.1529_1544delinsTCAGTGAAATTATTGA (p.Ile510=) c.1079_1094delinsTCAGTGAAATTATTGA (p.Ile360=) n.1245_1260delinsTCAGTGAAATTATTGA c.*570_*585delinsTCAGTGAAATTATTGA (n.*570_*585delinsTCAGTGAAATTATTGA) c.641_656delinsTCAGTGAAATTATTGA (p.Ile214=) c.611_626delinsTCAGTGAAATTATTGA (p.Ile204=) c.515_530delinsTCAGTGAAATTATTGA (p.Ile172=) c.587_602delinsTCAGTGAAATTATTGA (p.Ile196=) c.296_311delinsTCAGTGAAATTATTGA (p.Ile99=) c.200_215delinsTCAGTGAAATTATTGA (p.Ile67=) n.2147_2162delinsTCAGTGAAATTATTGA n.1003_1018delinsTCAGTGAAATTATTGA c.1277_1292delinsTCAGTGAAATTATTGA (p.Ile426=) c.1331_1346delinsTCAGTGAAATTATTGA (p.Ile444=) | |
5 | g.68295188_68295202del | CA1139658872 | PIK3R1 | c.709_723del (p.Glu237_Ser241del) c.799_813del (p.Glu267_Ser271del) c.1609_1623del (p.Glu537_Ser541del) c.*579_*593del (n.*579_*593del) c.1534_1548del (p.Glu512_Ser516del) c.1084_1098del (p.Glu362_Ser366del) n.1250_1264del c.*575_*589del (n.*575_*589del) c.646_660del (p.Glu216_Ser220del) c.616_630del (p.Glu206_Ser210del) c.520_534del (p.Glu174_Ser178del) c.592_606del (p.Glu198_Ser202del) c.301_315del (p.Glu101_Ser105del) c.205_219del (p.Glu69_Ser73del) n.2152_2166del n.1008_1022del c.1282_1296del (p.Glu428_Ser432del) c.1336_1350del (p.Glu446_Ser450del) | ClinVar dbSNP |
5 | g.68295188G>A | CA359882696 | PIK3R1 | c.709G>A (p.Glu237Lys) c.799G>A (p.Glu267Lys) c.1609G>A (p.Glu537Lys) c.*579G>A (n.*579G>A) c.1534G>A (p.Glu512Lys) c.1084G>A (p.Glu362Lys) n.1250G>A c.*575G>A (n.*575G>A) c.646G>A (p.Glu216Lys) c.616G>A (p.Glu206Lys) c.520G>A (p.Glu174Lys) c.592G>A (p.Glu198Lys) c.301G>A (p.Glu101Lys) c.205G>A (p.Glu69Lys) n.2152G>A n.1008G>A c.1282G>A (p.Glu428Lys) c.1336G>A (p.Glu446Lys) | dbSNP |
5 | g.68295188G>C | CA359882697 | PIK3R1 | c.709G>C (p.Glu237Gln) c.799G>C (p.Glu267Gln) c.1609G>C (p.Glu537Gln) c.*579G>C (n.*579G>C) c.1534G>C (p.Glu512Gln) c.1084G>C (p.Glu362Gln) n.1250G>C c.*575G>C (n.*575G>C) c.646G>C (p.Glu216Gln) c.616G>C (p.Glu206Gln) c.520G>C (p.Glu174Gln) c.592G>C (p.Glu198Gln) c.301G>C (p.Glu101Gln) c.205G>C (p.Glu69Gln) n.2152G>C n.1008G>C c.1282G>C (p.Glu428Gln) c.1336G>C (p.Glu446Gln) | dbSNP |
5 | g.68295188G>T | CA359882698 | PIK3R1 | c.709G>T (p.Glu237Ter) c.799G>T (p.Glu267Ter) c.1609G>T (p.Glu537Ter) c.*579G>T (n.*579G>T) c.1534G>T (p.Glu512Ter) c.1084G>T (p.Glu362Ter) n.1250G>T c.*575G>T (n.*575G>T) c.646G>T (p.Glu216Ter) c.616G>T (p.Glu206Ter) c.520G>T (p.Glu174Ter) c.592G>T (p.Glu198Ter) c.301G>T (p.Glu101Ter) c.205G>T (p.Glu69Ter) n.2152G>T n.1008G>T c.1282G>T (p.Glu428Ter) c.1336G>T (p.Glu446Ter) | |
5 | g.68295189A>C | CA359882700 | PIK3R1 | c.710A>C (p.Glu237Ala) c.800A>C (p.Glu267Ala) c.1610A>C (p.Glu537Ala) c.*580A>C (n.*580A>C) c.1535A>C (p.Glu512Ala) c.1085A>C (p.Glu362Ala) n.1251A>C c.*576A>C (n.*576A>C) c.647A>C (p.Glu216Ala) c.617A>C (p.Glu206Ala) c.521A>C (p.Glu174Ala) c.593A>C (p.Glu198Ala) c.302A>C (p.Glu101Ala) c.206A>C (p.Glu69Ala) n.2153A>C n.1009A>C c.1283A>C (p.Glu428Ala) c.1337A>C (p.Glu446Ala) | |
5 | g.68295189A>G | CA359882702 | PIK3R1 | c.710A>G (p.Glu237Gly) c.800A>G (p.Glu267Gly) c.1610A>G (p.Glu537Gly) c.*580A>G (n.*580A>G) c.1535A>G (p.Glu512Gly) c.1085A>G (p.Glu362Gly) n.1251A>G c.*576A>G (n.*576A>G) c.647A>G (p.Glu216Gly) c.617A>G (p.Glu206Gly) c.521A>G (p.Glu174Gly) c.593A>G (p.Glu198Gly) c.302A>G (p.Glu101Gly) c.206A>G (p.Glu69Gly) n.2153A>G n.1009A>G c.1283A>G (p.Glu428Gly) c.1337A>G (p.Glu446Gly) | |
5 | g.68295189A>T | CA359882704 | PIK3R1 | c.710A>T (p.Glu237Val) c.800A>T (p.Glu267Val) c.1610A>T (p.Glu537Val) c.*580A>T (n.*580A>T) c.1535A>T (p.Glu512Val) c.1085A>T (p.Glu362Val) n.1251A>T c.*576A>T (n.*576A>T) c.647A>T (p.Glu216Val) c.617A>T (p.Glu206Val) c.521A>T (p.Glu174Val) c.593A>T (p.Glu198Val) c.302A>T (p.Glu101Val) c.206A>T (p.Glu69Val) n.2153A>T n.1009A>T c.1283A>T (p.Glu428Val) c.1337A>T (p.Glu446Val) | dbSNP |
5 | g.68295190A= | CA1553406142 | PIK3R1 | c.711A= (p.Glu237=) c.801A= (p.Glu267=) c.1611A= (p.Glu537=) c.*581A= (n.*581A=) c.1536A= (p.Glu512=) c.1086A= (p.Glu362=) n.1252A= c.*577A= (n.*577A=) c.648A= (p.Glu216=) c.618A= (p.Glu206=) c.522A= (p.Glu174=) c.594A= (p.Glu198=) c.303A= (p.Glu101=) c.207A= (p.Glu69=) n.2154A= n.1010A= c.1284A= (p.Glu428=) c.1338A= (p.Glu446=) | |
5 | g.68295190A>C | CA359882709 | PIK3R1 | c.711A>C (p.Glu237Asp) c.801A>C (p.Glu267Asp) c.1611A>C (p.Glu537Asp) c.*581A>C (n.*581A>C) c.1536A>C (p.Glu512Asp) c.1086A>C (p.Glu362Asp) n.1252A>C c.*577A>C (n.*577A>C) c.648A>C (p.Glu216Asp) c.618A>C (p.Glu206Asp) c.522A>C (p.Glu174Asp) c.594A>C (p.Glu198Asp) c.303A>C (p.Glu101Asp) c.207A>C (p.Glu69Asp) n.2154A>C n.1010A>C c.1284A>C (p.Glu428Asp) c.1338A>C (p.Glu446Asp) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.68295190A>G | CA444672563 | PIK3R1 | c.711A>G (p.Glu237=) c.801A>G (p.Glu267=) c.1611A>G (p.Glu537=) c.*581A>G (n.*581A>G) c.1536A>G (p.Glu512=) c.1086A>G (p.Glu362=) n.1252A>G c.*577A>G (n.*577A>G) c.648A>G (p.Glu216=) c.618A>G (p.Glu206=) c.522A>G (p.Glu174=) c.594A>G (p.Glu198=) c.303A>G (p.Glu101=) c.207A>G (p.Glu69=) n.2154A>G n.1010A>G c.1284A>G (p.Glu428=) c.1338A>G (p.Glu446=) | |
5 | g.68295190A>T | CA359882712 | PIK3R1 | c.711A>T (p.Glu237Asp) c.801A>T (p.Glu267Asp) c.1611A>T (p.Glu537Asp) c.*581A>T (n.*581A>T) c.1536A>T (p.Glu512Asp) c.1086A>T (p.Glu362Asp) n.1252A>T c.*577A>T (n.*577A>T) c.648A>T (p.Glu216Asp) c.618A>T (p.Glu206Asp) c.522A>T (p.Glu174Asp) c.594A>T (p.Glu198Asp) c.303A>T (p.Glu101Asp) c.207A>T (p.Glu69Asp) n.2154A>T n.1010A>T c.1284A>T (p.Glu428Asp) c.1338A>T (p.Glu446Asp) | |
5 | g.68295190_68295193delinsAATT | CA1553406141 | PIK3R1 | c.711_714delinsAATT (p.Glu237=) c.801_804delinsAATT (p.Glu267=) c.1611_1614delinsAATT (p.Glu537=) c.*581_*584delinsAATT (n.*581_*584delinsAATT) c.1536_1539delinsAATT (p.Glu512=) c.1086_1089delinsAATT (p.Glu362=) n.1252_1255delinsAATT c.*577_*580delinsAATT (n.*577_*580delinsAATT) c.648_651delinsAATT (p.Glu216=) c.618_621delinsAATT (p.Glu206=) c.522_525delinsAATT (p.Glu174=) c.594_597delinsAATT (p.Glu198=) c.303_306delinsAATT (p.Glu101=) c.207_210delinsAATT (p.Glu69=) n.2154_2157delinsAATT n.1010_1013delinsAATT c.1284_1287delinsAATT (p.Glu428=) c.1338_1341delinsAATT (p.Glu446=) | |
5 | g.68295191A>C | CA359882715 | PIK3R1 | c.712A>C (p.Ile238Leu) c.802A>C (p.Ile268Leu) c.1612A>C (p.Ile538Leu) c.*582A>C (n.*582A>C) c.1537A>C (p.Ile513Leu) c.1087A>C (p.Ile363Leu) n.1253A>C c.*578A>C (n.*578A>C) c.649A>C (p.Ile217Leu) c.619A>C (p.Ile207Leu) c.523A>C (p.Ile175Leu) c.595A>C (p.Ile199Leu) c.304A>C (p.Ile102Leu) c.208A>C (p.Ile70Leu) n.2155A>C n.1011A>C c.1285A>C (p.Ile429Leu) c.1339A>C (p.Ile447Leu) | gnomAD v4 |
5 | g.68295191A>G | CA359882717 | PIK3R1 | c.712A>G (p.Ile238Val) c.802A>G (p.Ile268Val) c.1612A>G (p.Ile538Val) c.*582A>G (n.*582A>G) c.1537A>G (p.Ile513Val) c.1087A>G (p.Ile363Val) n.1253A>G c.*578A>G (n.*578A>G) c.649A>G (p.Ile217Val) c.619A>G (p.Ile207Val) c.523A>G (p.Ile175Val) c.595A>G (p.Ile199Val) c.304A>G (p.Ile102Val) c.208A>G (p.Ile70Val) n.2155A>G n.1011A>G c.1285A>G (p.Ile429Val) c.1339A>G (p.Ile447Val) | |
5 | g.68295191A>T | CA359882720 | PIK3R1 | c.712A>T (p.Ile238Phe) c.802A>T (p.Ile268Phe) c.1612A>T (p.Ile538Phe) c.*582A>T (n.*582A>T) c.1537A>T (p.Ile513Phe) c.1087A>T (p.Ile363Phe) n.1253A>T c.*578A>T (n.*578A>T) c.649A>T (p.Ile217Phe) c.619A>T (p.Ile207Phe) c.523A>T (p.Ile175Phe) c.595A>T (p.Ile199Phe) c.304A>T (p.Ile102Phe) c.208A>T (p.Ile70Phe) n.2155A>T n.1011A>T c.1285A>T (p.Ile429Phe) c.1339A>T (p.Ile447Phe) | |
5 | g.68295194_68295196del | CA344796 | PIK3R1 | c.715_717del (p.Ile239del) c.805_807del (p.Ile269del) c.1615_1617del (p.Ile539del) c.*585_*587del (n.*585_*587del) c.1540_1542del (p.Ile514del) c.1090_1092del (p.Ile364del) n.1256_1258del c.*581_*583del (n.*581_*583del) c.652_654del (p.Ile218del) c.622_624del (p.Ile208del) c.526_528del (p.Ile176del) c.598_600del (p.Ile200del) c.307_309del (p.Ile103del) c.211_213del (p.Ile71del) n.2158_2160del n.1014_1016del c.1288_1290del (p.Ile430del) c.1342_1344del (p.Ile448del) | ClinVar dbSNP |
5 | g.68295192T>A | CA359882728 | PIK3R1 | c.713T>A (p.Ile238Asn) c.803T>A (p.Ile268Asn) c.1613T>A (p.Ile538Asn) c.*583T>A (n.*583T>A) c.1538T>A (p.Ile513Asn) c.1088T>A (p.Ile363Asn) n.1254T>A c.*579T>A (n.*579T>A) c.650T>A (p.Ile217Asn) c.620T>A (p.Ile207Asn) c.524T>A (p.Ile175Asn) c.596T>A (p.Ile199Asn) c.305T>A (p.Ile102Asn) c.209T>A (p.Ile70Asn) n.2156T>A n.1012T>A c.1286T>A (p.Ile429Asn) c.1340T>A (p.Ile447Asn) | dbSNP |
5 | g.68295192T>C | CA359882726 | PIK3R1 | c.713T>C (p.Ile238Thr) c.803T>C (p.Ile268Thr) c.1613T>C (p.Ile538Thr) c.*583T>C (n.*583T>C) c.1538T>C (p.Ile513Thr) c.1088T>C (p.Ile363Thr) n.1254T>C c.*579T>C (n.*579T>C) c.650T>C (p.Ile217Thr) c.620T>C (p.Ile207Thr) c.524T>C (p.Ile175Thr) c.596T>C (p.Ile199Thr) c.305T>C (p.Ile102Thr) c.209T>C (p.Ile70Thr) n.2156T>C n.1012T>C c.1286T>C (p.Ile429Thr) c.1340T>C (p.Ile447Thr) | |
5 | g.68295192T>G | CA359882730 | PIK3R1 | c.713T>G (p.Ile238Ser) c.803T>G (p.Ile268Ser) c.1613T>G (p.Ile538Ser) c.*583T>G (n.*583T>G) c.1538T>G (p.Ile513Ser) c.1088T>G (p.Ile363Ser) n.1254T>G c.*579T>G (n.*579T>G) c.650T>G (p.Ile217Ser) c.620T>G (p.Ile207Ser) c.524T>G (p.Ile175Ser) c.596T>G (p.Ile199Ser) c.305T>G (p.Ile102Ser) c.209T>G (p.Ile70Ser) n.2156T>G n.1012T>G c.1286T>G (p.Ile429Ser) c.1340T>G (p.Ile447Ser) | |
5 | g.68295193T>A | CA444672566 | PIK3R1 | c.714T>A (p.Ile238=) c.804T>A (p.Ile268=) c.1614T>A (p.Ile538=) c.*584T>A (n.*584T>A) c.1539T>A (p.Ile513=) c.1089T>A (p.Ile363=) n.1255T>A c.*580T>A (n.*580T>A) c.651T>A (p.Ile217=) c.621T>A (p.Ile207=) c.525T>A (p.Ile175=) c.597T>A (p.Ile199=) c.306T>A (p.Ile102=) c.210T>A (p.Ile70=) n.2157T>A n.1013T>A c.1287T>A (p.Ile429=) c.1341T>A (p.Ile447=) | |
5 | g.68295193T>C | CA444672568 | PIK3R1 | c.714T>C (p.Ile238=) c.804T>C (p.Ile268=) c.1614T>C (p.Ile538=) c.*584T>C (n.*584T>C) c.1539T>C (p.Ile513=) c.1089T>C (p.Ile363=) n.1255T>C c.*580T>C (n.*580T>C) c.651T>C (p.Ile217=) c.621T>C (p.Ile207=) c.525T>C (p.Ile175=) c.597T>C (p.Ile199=) c.306T>C (p.Ile102=) c.210T>C (p.Ile70=) n.2157T>C n.1013T>C c.1287T>C (p.Ile429=) c.1341T>C (p.Ile447=) | |
5 | g.68295193T>G | CA359882732 | PIK3R1 | c.714T>G (p.Ile238Met) c.804T>G (p.Ile268Met) c.1614T>G (p.Ile538Met) c.*584T>G (n.*584T>G) c.1539T>G (p.Ile513Met) c.1089T>G (p.Ile363Met) n.1255T>G c.*580T>G (n.*580T>G) c.651T>G (p.Ile217Met) c.621T>G (p.Ile207Met) c.525T>G (p.Ile175Met) c.597T>G (p.Ile199Met) c.306T>G (p.Ile102Met) c.210T>G (p.Ile70Met) n.2157T>G n.1013T>G c.1287T>G (p.Ile429Met) c.1341T>G (p.Ile447Met) | |
5 | g.68295193_68295194delinsGC | CA2695204583 | PIK3R1 | c.714_715delinsGC (p.Ile238_Ile239delinsMetLeu) c.804_805delinsGC (p.Ile268_Ile269delinsMetLeu) c.1614_1615delinsGC (p.Ile538_Ile539delinsMetLeu) c.*584_*585delinsGC (n.*584_*585delinsGC) c.1539_1540delinsGC (p.Ile513_Ile514delinsMetLeu) c.1089_1090delinsGC (p.Ile363_Ile364delinsMetLeu) n.1255_1256delinsGC c.*580_*581delinsGC (n.*580_*581delinsGC) c.651_652delinsGC (p.Ile217_Ile218delinsMetLeu) c.621_622delinsGC (p.Ile207_Ile208delinsMetLeu) c.525_526delinsGC (p.Ile175_Ile176delinsMetLeu) c.597_598delinsGC (p.Ile199_Ile200delinsMetLeu) c.306_307delinsGC (p.Ile102_Ile103delinsMetLeu) c.210_211delinsGC (p.Ile70_Ile71delinsMetLeu) n.2157_2158delinsGC n.1013_1014delinsGC c.1287_1288delinsGC (p.Ile429_Ile430delinsMetLeu) c.1341_1342delinsGC (p.Ile447_Ile448delinsMetLeu) | |
5 | g.68295194A>C | CA359882736 | PIK3R1 | c.715A>C (p.Ile239Leu) c.805A>C (p.Ile269Leu) c.1615A>C (p.Ile539Leu) c.*585A>C (n.*585A>C) c.1540A>C (p.Ile514Leu) c.1090A>C (p.Ile364Leu) n.1256A>C c.*581A>C (n.*581A>C) c.652A>C (p.Ile218Leu) c.622A>C (p.Ile208Leu) c.526A>C (p.Ile176Leu) c.598A>C (p.Ile200Leu) c.307A>C (p.Ile103Leu) c.211A>C (p.Ile71Leu) n.2158A>C n.1014A>C c.1288A>C (p.Ile430Leu) c.1342A>C (p.Ile448Leu) | |
5 | g.68295194A>G | CA359882739 | PIK3R1 | c.715A>G (p.Ile239Val) c.805A>G (p.Ile269Val) c.1615A>G (p.Ile539Val) c.*585A>G (n.*585A>G) c.1540A>G (p.Ile514Val) c.1090A>G (p.Ile364Val) n.1256A>G c.*581A>G (n.*581A>G) c.652A>G (p.Ile218Val) c.622A>G (p.Ile208Val) c.526A>G (p.Ile176Val) c.598A>G (p.Ile200Val) c.307A>G (p.Ile103Val) c.211A>G (p.Ile71Val) n.2158A>G n.1014A>G c.1288A>G (p.Ile430Val) c.1342A>G (p.Ile448Val) | |
5 | g.68295194A>T | CA359882741 | PIK3R1 | c.715A>T (p.Ile239Phe) c.805A>T (p.Ile269Phe) c.1615A>T (p.Ile539Phe) c.*585A>T (n.*585A>T) c.1540A>T (p.Ile514Phe) c.1090A>T (p.Ile364Phe) n.1256A>T c.*581A>T (n.*581A>T) c.652A>T (p.Ile218Phe) c.622A>T (p.Ile208Phe) c.526A>T (p.Ile176Phe) c.598A>T (p.Ile200Phe) c.307A>T (p.Ile103Phe) c.211A>T (p.Ile71Phe) n.2158A>T n.1014A>T c.1288A>T (p.Ile430Phe) c.1342A>T (p.Ile448Phe) | dbSNP |
5 | g.68295195T>A | CA359882746 | PIK3R1 | c.716T>A (p.Ile239Asn) c.806T>A (p.Ile269Asn) c.1616T>A (p.Ile539Asn) c.*586T>A (n.*586T>A) c.1541T>A (p.Ile514Asn) c.1091T>A (p.Ile364Asn) n.1257T>A c.*582T>A (n.*582T>A) c.653T>A (p.Ile218Asn) c.623T>A (p.Ile208Asn) c.527T>A (p.Ile176Asn) c.599T>A (p.Ile200Asn) c.308T>A (p.Ile103Asn) c.212T>A (p.Ile71Asn) n.2159T>A n.1015T>A c.1289T>A (p.Ile430Asn) c.1343T>A (p.Ile448Asn) | |
5 | g.68295195T>C | CA359882747 | PIK3R1 | c.716T>C (p.Ile239Thr) c.806T>C (p.Ile269Thr) c.1616T>C (p.Ile539Thr) c.*586T>C (n.*586T>C) c.1541T>C (p.Ile514Thr) c.1091T>C (p.Ile364Thr) n.1257T>C c.*582T>C (n.*582T>C) c.653T>C (p.Ile218Thr) c.623T>C (p.Ile208Thr) c.527T>C (p.Ile176Thr) c.599T>C (p.Ile200Thr) c.308T>C (p.Ile103Thr) c.212T>C (p.Ile71Thr) n.2159T>C n.1015T>C c.1289T>C (p.Ile430Thr) c.1343T>C (p.Ile448Thr) | gnomAD v4 |
5 | g.68295195T>G | CA359882750 | PIK3R1 | c.716T>G (p.Ile239Ser) c.806T>G (p.Ile269Ser) c.1616T>G (p.Ile539Ser) c.*586T>G (n.*586T>G) c.1541T>G (p.Ile514Ser) c.1091T>G (p.Ile364Ser) n.1257T>G c.*582T>G (n.*582T>G) c.653T>G (p.Ile218Ser) c.623T>G (p.Ile208Ser) c.527T>G (p.Ile176Ser) c.599T>G (p.Ile200Ser) c.308T>G (p.Ile103Ser) c.212T>G (p.Ile71Ser) n.2159T>G n.1015T>G c.1289T>G (p.Ile430Ser) c.1343T>G (p.Ile448Ser) | |
5 | g.68295196T>A | CA444672571 | PIK3R1 | c.717T>A (p.Ile239=) c.807T>A (p.Ile269=) c.1617T>A (p.Ile539=) c.*587T>A (n.*587T>A) c.1542T>A (p.Ile514=) c.1092T>A (p.Ile364=) n.1258T>A c.*583T>A (n.*583T>A) c.654T>A (p.Ile218=) c.624T>A (p.Ile208=) c.528T>A (p.Ile176=) c.600T>A (p.Ile200=) c.309T>A (p.Ile103=) c.213T>A (p.Ile71=) n.2160T>A n.1016T>A c.1290T>A (p.Ile430=) c.1344T>A (p.Ile448=) | dbSNP |
5 | g.68295196T>C | CA444672572 | PIK3R1 | c.717T>C (p.Ile239=) c.807T>C (p.Ile269=) c.1617T>C (p.Ile539=) c.*587T>C (n.*587T>C) c.1542T>C (p.Ile514=) c.1092T>C (p.Ile364=) n.1258T>C c.*583T>C (n.*583T>C) c.654T>C (p.Ile218=) c.624T>C (p.Ile208=) c.528T>C (p.Ile176=) c.600T>C (p.Ile200=) c.309T>C (p.Ile103=) c.213T>C (p.Ile71=) n.2160T>C n.1016T>C c.1290T>C (p.Ile430=) c.1344T>C (p.Ile448=) | |
5 | g.68295196T>G | CA359882752 | PIK3R1 | c.717T>G (p.Ile239Met) c.807T>G (p.Ile269Met) c.1617T>G (p.Ile539Met) c.*587T>G (n.*587T>G) c.1542T>G (p.Ile514Met) c.1092T>G (p.Ile364Met) n.1258T>G c.*583T>G (n.*583T>G) c.654T>G (p.Ile218Met) c.624T>G (p.Ile208Met) c.528T>G (p.Ile176Met) c.600T>G (p.Ile200Met) c.309T>G (p.Ile103Met) c.213T>G (p.Ile71Met) n.2160T>G n.1016T>G c.1290T>G (p.Ile430Met) c.1344T>G (p.Ile448Met) | |
5 | g.68295197G>A | CA119907567 | PIK3R1 | c.718G>A (p.Asp240Asn) c.808G>A (p.Asp270Asn) c.1618G>A (p.Asp540Asn) c.*588G>A (n.*588G>A) c.1543G>A (p.Asp515Asn) c.1093G>A (p.Asp365Asn) n.1259G>A c.*584G>A (n.*584G>A) c.655G>A (p.Asp219Asn) c.625G>A (p.Asp209Asn) c.529G>A (p.Asp177Asn) c.601G>A (p.Asp201Asn) c.310G>A (p.Asp104Asn) c.214G>A (p.Asp72Asn) n.2161G>A n.1017G>A c.1291G>A (p.Asp431Asn) c.1345G>A (p.Asp449Asn) | dbSNP |
5 | g.68295197G>C | CA359882756 | PIK3R1 | c.718G>C (p.Asp240His) c.808G>C (p.Asp270His) c.1618G>C (p.Asp540His) c.*588G>C (n.*588G>C) c.1543G>C (p.Asp515His) c.1093G>C (p.Asp365His) n.1259G>C c.*584G>C (n.*584G>C) c.655G>C (p.Asp219His) c.625G>C (p.Asp209His) c.529G>C (p.Asp177His) c.601G>C (p.Asp201His) c.310G>C (p.Asp104His) c.214G>C (p.Asp72His) n.2161G>C n.1017G>C c.1291G>C (p.Asp431His) c.1345G>C (p.Asp449His) | dbSNP |
5 | g.68295197G= | CA1553406143 | PIK3R1 | c.718G= (p.Asp240=) c.808G= (p.Asp270=) c.1618G= (p.Asp540=) c.*588G= (n.*588G=) c.1543G= (p.Asp515=) c.1093G= (p.Asp365=) n.1259G= c.*584G= (n.*584G=) c.655G= (p.Asp219=) c.625G= (p.Asp209=) c.529G= (p.Asp177=) c.601G= (p.Asp201=) c.310G= (p.Asp104=) c.214G= (p.Asp72=) n.2161G= n.1017G= c.1291G= (p.Asp431=) c.1345G= (p.Asp449=) | |
5 | g.68295197G>T | CA359882758 | PIK3R1 | c.718G>T (p.Asp240Tyr) c.808G>T (p.Asp270Tyr) c.1618G>T (p.Asp540Tyr) c.*588G>T (n.*588G>T) c.1543G>T (p.Asp515Tyr) c.1093G>T (p.Asp365Tyr) n.1259G>T c.*584G>T (n.*584G>T) c.655G>T (p.Asp219Tyr) c.625G>T (p.Asp209Tyr) c.529G>T (p.Asp177Tyr) c.601G>T (p.Asp201Tyr) c.310G>T (p.Asp104Tyr) c.214G>T (p.Asp72Tyr) n.2161G>T n.1017G>T c.1291G>T (p.Asp431Tyr) c.1345G>T (p.Asp449Tyr) | dbSNP |
5 | g.68295198A>C | CA359882762 | PIK3R1 | c.719A>C (p.Asp240Ala) c.809A>C (p.Asp270Ala) c.1619A>C (p.Asp540Ala) c.*589A>C (n.*589A>C) c.1544A>C (p.Asp515Ala) c.1094A>C (p.Asp365Ala) n.1260A>C c.*585A>C (n.*585A>C) c.656A>C (p.Asp219Ala) c.626A>C (p.Asp209Ala) c.530A>C (p.Asp177Ala) c.602A>C (p.Asp201Ala) c.311A>C (p.Asp104Ala) c.215A>C (p.Asp72Ala) n.2162A>C n.1018A>C c.1292A>C (p.Asp431Ala) c.1346A>C (p.Asp449Ala) | |
5 | g.68295198A>G | CA359882764 | PIK3R1 | c.719A>G (p.Asp240Gly) c.809A>G (p.Asp270Gly) c.1619A>G (p.Asp540Gly) c.*589A>G (n.*589A>G) c.1544A>G (p.Asp515Gly) c.1094A>G (p.Asp365Gly) n.1260A>G c.*585A>G (n.*585A>G) c.656A>G (p.Asp219Gly) c.626A>G (p.Asp209Gly) c.530A>G (p.Asp177Gly) c.602A>G (p.Asp201Gly) c.311A>G (p.Asp104Gly) c.215A>G (p.Asp72Gly) n.2162A>G n.1018A>G c.1292A>G (p.Asp431Gly) c.1346A>G (p.Asp449Gly) | dbSNP |
5 | g.68295198A>T | CA359882761 | PIK3R1 | c.719A>T (p.Asp240Val) c.809A>T (p.Asp270Val) c.1619A>T (p.Asp540Val) c.*589A>T (n.*589A>T) c.1544A>T (p.Asp515Val) c.1094A>T (p.Asp365Val) n.1260A>T c.*585A>T (n.*585A>T) c.656A>T (p.Asp219Val) c.626A>T (p.Asp209Val) c.530A>T (p.Asp177Val) c.602A>T (p.Asp201Val) c.311A>T (p.Asp104Val) c.215A>T (p.Asp72Val) n.2162A>T n.1018A>T c.1292A>T (p.Asp431Val) c.1346A>T (p.Asp449Val) | dbSNP |
5 | g.68295199C>A | CA359882767 | PIK3R1 | c.720C>A (p.Asp240Glu) c.810C>A (p.Asp270Glu) c.1620C>A (p.Asp540Glu) c.*590C>A (n.*590C>A) c.1545C>A (p.Asp515Glu) c.1095C>A (p.Asp365Glu) n.1261C>A c.*586C>A (n.*586C>A) c.657C>A (p.Asp219Glu) c.627C>A (p.Asp209Glu) c.531C>A (p.Asp177Glu) c.603C>A (p.Asp201Glu) c.312C>A (p.Asp104Glu) c.216C>A (p.Asp72Glu) n.2163C>A n.1019C>A c.1293C>A (p.Asp431Glu) c.1347C>A (p.Asp449Glu) | dbSNP |
5 | g.68295199C= | CA1553406144 | PIK3R1 | c.720C= (p.Asp240=) c.810C= (p.Asp270=) c.1620C= (p.Asp540=) c.*590C= (n.*590C=) c.1545C= (p.Asp515=) c.1095C= (p.Asp365=) n.1261C= c.*586C= (n.*586C=) c.657C= (p.Asp219=) c.627C= (p.Asp209=) c.531C= (p.Asp177=) c.603C= (p.Asp201=) c.312C= (p.Asp104=) c.216C= (p.Asp72=) n.2163C= n.1019C= c.1293C= (p.Asp431=) c.1347C= (p.Asp449=) | |
5 | g.68295199C>G | CA359882769 | PIK3R1 | c.720C>G (p.Asp240Glu) c.810C>G (p.Asp270Glu) c.1620C>G (p.Asp540Glu) c.*590C>G (n.*590C>G) c.1545C>G (p.Asp515Glu) c.1095C>G (p.Asp365Glu) n.1261C>G c.*586C>G (n.*586C>G) c.657C>G (p.Asp219Glu) c.627C>G (p.Asp209Glu) c.531C>G (p.Asp177Glu) c.603C>G (p.Asp201Glu) c.312C>G (p.Asp104Glu) c.216C>G (p.Asp72Glu) n.2163C>G n.1019C>G c.1293C>G (p.Asp431Glu) c.1347C>G (p.Asp449Glu) | dbSNP |
5 | g.68295199C>T | CA444672578 | PIK3R1 | c.720C>T (p.Asp240=) c.810C>T (p.Asp270=) c.1620C>T (p.Asp540=) c.*590C>T (n.*590C>T) c.1545C>T (p.Asp515=) c.1095C>T (p.Asp365=) n.1261C>T c.*586C>T (n.*586C>T) c.657C>T (p.Asp219=) c.627C>T (p.Asp209=) c.531C>T (p.Asp177=) c.603C>T (p.Asp201=) c.312C>T (p.Asp104=) c.216C>T (p.Asp72=) n.2163C>T n.1019C>T c.1293C>T (p.Asp431=) c.1347C>T (p.Asp449=) | dbSNP |
5 | g.68295200A= | CA1553406145 | PIK3R1 | c.721A= (p.Ser241=) c.811A= (p.Ser271=) c.1621A= (p.Ser541=) c.*591A= (n.*591A=) c.1546A= (p.Ser516=) c.1096A= (p.Ser366=) n.1262A= c.*587A= (n.*587A=) c.658A= (p.Ser220=) c.628A= (p.Ser210=) c.532A= (p.Ser178=) c.604A= (p.Ser202=) c.313A= (p.Ser105=) c.217A= (p.Ser73=) n.2164A= n.1020A= c.1294A= (p.Ser432=) c.1348A= (p.Ser450=) | |
5 | g.68295200A>C | CA359882771 | PIK3R1 | c.721A>C (p.Ser241Arg) c.811A>C (p.Ser271Arg) c.1621A>C (p.Ser541Arg) c.*591A>C (n.*591A>C) c.1546A>C (p.Ser516Arg) c.1096A>C (p.Ser366Arg) n.1262A>C c.*587A>C (n.*587A>C) c.658A>C (p.Ser220Arg) c.628A>C (p.Ser210Arg) c.532A>C (p.Ser178Arg) c.604A>C (p.Ser202Arg) c.313A>C (p.Ser105Arg) c.217A>C (p.Ser73Arg) n.2164A>C n.1020A>C c.1294A>C (p.Ser432Arg) c.1348A>C (p.Ser450Arg) | |
5 | g.68295200A>G | CA359882774 | PIK3R1 | c.721A>G (p.Ser241Gly) c.811A>G (p.Ser271Gly) c.1621A>G (p.Ser541Gly) c.*591A>G (n.*591A>G) c.1546A>G (p.Ser516Gly) c.1096A>G (p.Ser366Gly) n.1262A>G c.*587A>G (n.*587A>G) c.658A>G (p.Ser220Gly) c.628A>G (p.Ser210Gly) c.532A>G (p.Ser178Gly) c.604A>G (p.Ser202Gly) c.313A>G (p.Ser105Gly) c.217A>G (p.Ser73Gly) n.2164A>G n.1020A>G c.1294A>G (p.Ser432Gly) c.1348A>G (p.Ser450Gly) | ClinVar dbSNP |
5 | g.68295200A>T | CA359882776 | PIK3R1 | c.721A>T (p.Ser241Cys) c.811A>T (p.Ser271Cys) c.1621A>T (p.Ser541Cys) c.*591A>T (n.*591A>T) c.1546A>T (p.Ser516Cys) c.1096A>T (p.Ser366Cys) n.1262A>T c.*587A>T (n.*587A>T) c.658A>T (p.Ser220Cys) c.628A>T (p.Ser210Cys) c.532A>T (p.Ser178Cys) c.604A>T (p.Ser202Cys) c.313A>T (p.Ser105Cys) c.217A>T (p.Ser73Cys) n.2164A>T n.1020A>T c.1294A>T (p.Ser432Cys) c.1348A>T (p.Ser450Cys) | |
5 | g.68295201G>A | CA359882782 | PIK3R1 | c.722G>A (p.Ser241Asn) c.812G>A (p.Ser271Asn) c.1622G>A (p.Ser541Asn) c.*592G>A (n.*592G>A) c.1547G>A (p.Ser516Asn) c.1097G>A (p.Ser366Asn) n.1263G>A c.*588G>A (n.*588G>A) c.659G>A (p.Ser220Asn) c.629G>A (p.Ser210Asn) c.533G>A (p.Ser178Asn) c.605G>A (p.Ser202Asn) c.314G>A (p.Ser105Asn) c.218G>A (p.Ser73Asn) n.2165G>A n.1021G>A c.1295G>A (p.Ser432Asn) c.1349G>A (p.Ser450Asn) | dbSNP |
5 | g.68295201G>C | CA359882778 | PIK3R1 | c.722G>C (p.Ser241Thr) c.812G>C (p.Ser271Thr) c.1622G>C (p.Ser541Thr) c.*592G>C (n.*592G>C) c.1547G>C (p.Ser516Thr) c.1097G>C (p.Ser366Thr) n.1263G>C c.*588G>C (n.*588G>C) c.659G>C (p.Ser220Thr) c.629G>C (p.Ser210Thr) c.533G>C (p.Ser178Thr) c.605G>C (p.Ser202Thr) c.314G>C (p.Ser105Thr) c.218G>C (p.Ser73Thr) n.2165G>C n.1021G>C c.1295G>C (p.Ser432Thr) c.1349G>C (p.Ser450Thr) | dbSNP |
5 | g.68295201G= | CA1553406147 | PIK3R1 | c.722G= (p.Ser241=) c.812G= (p.Ser271=) c.1622G= (p.Ser541=) c.*592G= (n.*592G=) c.1547G= (p.Ser516=) c.1097G= (p.Ser366=) n.1263G= c.*588G= (n.*588G=) c.659G= (p.Ser220=) c.629G= (p.Ser210=) c.533G= (p.Ser178=) c.605G= (p.Ser202=) c.314G= (p.Ser105=) c.218G= (p.Ser73=) n.2165G= n.1021G= c.1295G= (p.Ser432=) c.1349G= (p.Ser450=) | |
5 | g.68295201G>T | CA359882780 | PIK3R1 | c.722G>T (p.Ser241Ile) c.812G>T (p.Ser271Ile) c.1622G>T (p.Ser541Ile) c.*592G>T (n.*592G>T) c.1547G>T (p.Ser516Ile) c.1097G>T (p.Ser366Ile) n.1263G>T c.*588G>T (n.*588G>T) c.659G>T (p.Ser220Ile) c.629G>T (p.Ser210Ile) c.533G>T (p.Ser178Ile) c.605G>T (p.Ser202Ile) c.314G>T (p.Ser105Ile) c.218G>T (p.Ser73Ile) n.2165G>T n.1021G>T c.1295G>T (p.Ser432Ile) c.1349G>T (p.Ser450Ile) | dbSNP |
5 | g.68295201_68295212delinsGTAGAAGAAGAT | CA1553406146 | PIK3R1 | c.722_733delinsGTAGAAGAAGAT (p.Ser241=) c.812_823delinsGTAGAAGAAGAT (p.Ser271=) c.1622_1633delinsGTAGAAGAAGAT (p.Ser541=) c.*592_*603delinsGTAGAAGAAGAT (n.*592_*603delinsGTAGAAGAAGAT) c.1547_1558delinsGTAGAAGAAGAT (p.Ser516=) c.1097_1108delinsGTAGAAGAAGAT (p.Ser366=) n.1263_1274delinsGTAGAAGAAGAT c.*588_*599delinsGTAGAAGAAGAT (n.*588_*599delinsGTAGAAGAAGAT) c.659_670delinsGTAGAAGAAGAT (p.Ser220=) c.629_640delinsGTAGAAGAAGAT (p.Ser210=) c.533_544delinsGTAGAAGAAGAT (p.Ser178=) c.605_616delinsGTAGAAGAAGAT (p.Ser202=) c.314_325delinsGTAGAAGAAGAT (p.Ser105=) c.218_229delinsGTAGAAGAAGAT (p.Ser73=) n.2165_2176delinsGTAGAAGAAGAT n.1021_1032delinsGTAGAAGAAGAT c.1295_1306delinsGTAGAAGAAGAT (p.Ser432=) c.1349_1360delinsGTAGAAGAAGAT (p.Ser450=) | |
5 | g.68295202T>A | CA359882785 | PIK3R1 | c.723T>A (p.Ser241Arg) c.813T>A (p.Ser271Arg) c.1623T>A (p.Ser541Arg) c.*593T>A (n.*593T>A) c.1548T>A (p.Ser516Arg) c.1098T>A (p.Ser366Arg) n.1264T>A c.*589T>A (n.*589T>A) c.660T>A (p.Ser220Arg) c.630T>A (p.Ser210Arg) c.534T>A (p.Ser178Arg) c.606T>A (p.Ser202Arg) c.315T>A (p.Ser105Arg) c.219T>A (p.Ser73Arg) n.2166T>A n.1022T>A c.1296T>A (p.Ser432Arg) c.1350T>A (p.Ser450Arg) | |
5 | g.68295202T>C | CA444672585 | PIK3R1 | c.723T>C (p.Ser241=) c.813T>C (p.Ser271=) c.1623T>C (p.Ser541=) c.*593T>C (n.*593T>C) c.1548T>C (p.Ser516=) c.1098T>C (p.Ser366=) n.1264T>C c.*589T>C (n.*589T>C) c.660T>C (p.Ser220=) c.630T>C (p.Ser210=) c.534T>C (p.Ser178=) c.606T>C (p.Ser202=) c.315T>C (p.Ser105=) c.219T>C (p.Ser73=) n.2166T>C n.1022T>C c.1296T>C (p.Ser432=) c.1350T>C (p.Ser450=) | gnomAD v4 |
5 | g.68295202T>G | CA359882786 | PIK3R1 | c.723T>G (p.Ser241Arg) c.813T>G (p.Ser271Arg) c.1623T>G (p.Ser541Arg) c.*593T>G (n.*593T>G) c.1548T>G (p.Ser516Arg) c.1098T>G (p.Ser366Arg) n.1264T>G c.*589T>G (n.*589T>G) c.660T>G (p.Ser220Arg) c.630T>G (p.Ser210Arg) c.534T>G (p.Ser178Arg) c.606T>G (p.Ser202Arg) c.315T>G (p.Ser105Arg) c.219T>G (p.Ser73Arg) n.2166T>G n.1022T>G c.1296T>G (p.Ser432Arg) c.1350T>G (p.Ser450Arg) | |
5 | g.68295202_68295205delinsTAGA | CA1553406148 | PIK3R1 | c.723_726delinsTAGA (p.Ser241=) c.813_816delinsTAGA (p.Ser271=) c.1623_1626delinsTAGA (p.Ser541=) c.*593_*596delinsTAGA (n.*593_*596delinsTAGA) c.1548_1551delinsTAGA (p.Ser516=) c.1098_1101delinsTAGA (p.Ser366=) n.1264_1267delinsTAGA c.*589_*592delinsTAGA (n.*589_*592delinsTAGA) c.660_663delinsTAGA (p.Ser220=) c.630_633delinsTAGA (p.Ser210=) c.534_537delinsTAGA (p.Ser178=) c.606_609delinsTAGA (p.Ser202=) c.315_318delinsTAGA (p.Ser105=) c.219_222delinsTAGA (p.Ser73=) n.2166_2169delinsTAGA n.1022_1025delinsTAGA c.1296_1299delinsTAGA (p.Ser432=) c.1350_1353delinsTAGA (p.Ser450=) | |
5 | g.68295203_68295213del | CA3290454 | PIK3R1 | c.724_734del (p.Arg242GlyfsTer10) c.814_824del (p.Arg272GlyfsTer10) c.1624_1634del (p.Arg542GlyfsTer10) c.*594_*604del (n.*594_*604del) c.1549_1559del (p.Arg517GlyfsTer10) c.1099_1109del (p.Arg367GlyfsTer10) n.1265_1275del c.*590_*600del (n.*590_*600del) c.661_671del (p.Arg221GlyfsTer10) c.631_641del (p.Arg211GlyfsTer10) c.535_545del (p.Arg179GlyfsTer10) c.607_617del (p.Arg203GlyfsTer10) c.316_326del (p.Arg106GlyfsTer10) c.220_230del (p.Arg74GlyfsTer10) n.2167_2177del n.1023_1033del c.1297_1307del (p.Arg433GlyfsTer10) c.1351_1361del (p.Arg451GlyfsTer10) | dbSNP ExAC gnomAD v2 |
5 | g.68295203A>C | CA444672586 | PIK3R1 | c.724A>C (p.Arg242=) c.814A>C (p.Arg272=) c.1624A>C (p.Arg542=) c.*594A>C (n.*594A>C) c.1549A>C (p.Arg517=) c.1099A>C (p.Arg367=) n.1265A>C c.*590A>C (n.*590A>C) c.661A>C (p.Arg221=) c.631A>C (p.Arg211=) c.535A>C (p.Arg179=) c.607A>C (p.Arg203=) c.316A>C (p.Arg106=) c.220A>C (p.Arg74=) n.2167A>C n.1023A>C c.1297A>C (p.Arg433=) c.1351A>C (p.Arg451=) | |
5 | g.68295203A>G | CA359882790 | PIK3R1 | c.724A>G (p.Arg242Gly) c.814A>G (p.Arg272Gly) c.1624A>G (p.Arg542Gly) c.*594A>G (n.*594A>G) c.1549A>G (p.Arg517Gly) c.1099A>G (p.Arg367Gly) n.1265A>G c.*590A>G (n.*590A>G) c.661A>G (p.Arg221Gly) c.631A>G (p.Arg211Gly) c.535A>G (p.Arg179Gly) c.607A>G (p.Arg203Gly) c.316A>G (p.Arg106Gly) c.220A>G (p.Arg74Gly) n.2167A>G n.1023A>G c.1297A>G (p.Arg433Gly) c.1351A>G (p.Arg451Gly) | |
5 | g.68295203A>T | CA359882792 | PIK3R1 | c.724A>T (p.Arg242Ter) c.814A>T (p.Arg272Ter) c.1624A>T (p.Arg542Ter) c.*594A>T (n.*594A>T) c.1549A>T (p.Arg517Ter) c.1099A>T (p.Arg367Ter) n.1265A>T c.*590A>T (n.*590A>T) c.661A>T (p.Arg221Ter) c.631A>T (p.Arg211Ter) c.535A>T (p.Arg179Ter) c.607A>T (p.Arg203Ter) c.316A>T (p.Arg106Ter) c.220A>T (p.Arg74Ter) n.2167A>T n.1023A>T c.1297A>T (p.Arg433Ter) c.1351A>T (p.Arg451Ter) | dbSNP |
5 | g.68295209_68295211del | CA645556589 | PIK3R1 | c.730_732del (p.Arg244del) c.820_822del (p.Arg274del) c.1630_1632del (p.Arg544del) c.*600_*602del (n.*600_*602del) c.1555_1557del (p.Arg519del) c.1105_1107del (p.Arg369del) n.1271_1273del c.*596_*598del (n.*596_*598del) c.667_669del (p.Arg223del) c.637_639del (p.Arg213del) c.541_543del (p.Arg181del) c.613_615del (p.Arg205del) c.322_324del (p.Arg108del) c.226_228del (p.Arg76del) n.2173_2175del n.1029_1031del c.1303_1305del (p.Arg435del) c.1357_1359del (p.Arg453del) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
5 | g.68295204G>A | CA359882795 | PIK3R1 | c.725G>A (p.Arg242Lys) c.815G>A (p.Arg272Lys) c.1625G>A (p.Arg542Lys) c.*595G>A (n.*595G>A) c.1550G>A (p.Arg517Lys) c.1100G>A (p.Arg367Lys) n.1266G>A c.*591G>A (n.*591G>A) c.662G>A (p.Arg221Lys) c.632G>A (p.Arg211Lys) c.536G>A (p.Arg179Lys) c.608G>A (p.Arg203Lys) c.317G>A (p.Arg106Lys) c.221G>A (p.Arg74Lys) n.2168G>A n.1024G>A c.1298G>A (p.Arg433Lys) c.1352G>A (p.Arg451Lys) | dbSNP gnomAD v4 |
5 | g.68295204G>C | CA359882798 | PIK3R1 | c.725G>C (p.Arg242Thr) c.815G>C (p.Arg272Thr) c.1625G>C (p.Arg542Thr) c.*595G>C (n.*595G>C) c.1550G>C (p.Arg517Thr) c.1100G>C (p.Arg367Thr) n.1266G>C c.*591G>C (n.*591G>C) c.662G>C (p.Arg221Thr) c.632G>C (p.Arg211Thr) c.536G>C (p.Arg179Thr) c.608G>C (p.Arg203Thr) c.317G>C (p.Arg106Thr) c.221G>C (p.Arg74Thr) n.2168G>C n.1024G>C c.1298G>C (p.Arg433Thr) c.1352G>C (p.Arg451Thr) | dbSNP |
5 | g.68295204G>T | CA359882796 | PIK3R1 | c.725G>T (p.Arg242Ile) c.815G>T (p.Arg272Ile) c.1625G>T (p.Arg542Ile) c.*595G>T (n.*595G>T) c.1550G>T (p.Arg517Ile) c.1100G>T (p.Arg367Ile) n.1266G>T c.*591G>T (n.*591G>T) c.662G>T (p.Arg221Ile) c.632G>T (p.Arg211Ile) c.536G>T (p.Arg179Ile) c.608G>T (p.Arg203Ile) c.317G>T (p.Arg106Ile) c.221G>T (p.Arg74Ile) n.2168G>T n.1024G>T c.1298G>T (p.Arg433Ile) c.1352G>T (p.Arg451Ile) | |
5 | g.68295204_68295233dup | CA2573331939 | PIK3R1 | c.725_754dup (p.Lys251_Gln252insArgArgArgLeuGluGluAspLeuLysLys) c.815_844dup (p.Lys281_Gln282insArgArgArgLeuGluGluAspLeuLysLys) c.1625_1654dup (p.Lys551_Gln552insArgArgArgLeuGluGluAspLeuLysLys) c.*595_*624dup (n.*595_*624dup) c.1550_1579dup (p.Lys526_Gln527insArgArgArgLeuGluGluAspLeuLysLys) c.1100_1129dup (p.Lys376_Gln377insArgArgArgLeuGluGluAspLeuLysLys) n.1266_1295dup c.*591_*620dup (n.*591_*620dup) c.662_691dup (p.Lys230_Gln231insArgArgArgLeuGluGluAspLeuLysLys) c.632_661dup (p.Lys220_Gln221insArgArgArgLeuGluGluAspLeuLysLys) c.536_565dup (p.Lys188_Gln189insArgArgArgLeuGluGluAspLeuLysLys) c.608_637dup (p.Lys212_Gln213insArgArgArgLeuGluGluAspLeuLysLys) c.317_346dup (p.Lys115_Gln116insArgArgArgLeuGluGluAspLeuLysLys) c.221_250dup (p.Lys83_Gln84insArgArgArgLeuGluGluAspLeuLysLys) n.2168_2197dup n.1024_1053dup c.1298_1327dup (p.Lys442_Gln443insArgArgArgLeuGluGluAspLeuLysLys) c.1352_1381dup (p.Lys460_Gln461insArgArgArgLeuGluGluAspLeuLysLys) | |
5 | g.68295205A>C | CA359882799 | PIK3R1 | c.726A>C (p.Arg242Ser) c.816A>C (p.Arg272Ser) c.1626A>C (p.Arg542Ser) c.*596A>C (n.*596A>C) c.1551A>C (p.Arg517Ser) c.1101A>C (p.Arg367Ser) n.1267A>C c.*592A>C (n.*592A>C) c.663A>C (p.Arg221Ser) c.633A>C (p.Arg211Ser) c.537A>C (p.Arg179Ser) c.609A>C (p.Arg203Ser) c.318A>C (p.Arg106Ser) c.222A>C (p.Arg74Ser) n.2169A>C n.1025A>C c.1299A>C (p.Arg433Ser) c.1353A>C (p.Arg451Ser) | |
5 | g.68295205A>G | CA444672595 | PIK3R1 | c.726A>G (p.Arg242=) c.816A>G (p.Arg272=) c.1626A>G (p.Arg542=) c.*596A>G (n.*596A>G) c.1551A>G (p.Arg517=) c.1101A>G (p.Arg367=) n.1267A>G c.*592A>G (n.*592A>G) c.663A>G (p.Arg221=) c.633A>G (p.Arg211=) c.537A>G (p.Arg179=) c.609A>G (p.Arg203=) c.318A>G (p.Arg106=) c.222A>G (p.Arg74=) n.2169A>G n.1025A>G c.1299A>G (p.Arg433=) c.1353A>G (p.Arg451=) | gnomAD v4 |
5 | g.68295205A>T | CA359882801 | PIK3R1 | c.726A>T (p.Arg242Ser) c.816A>T (p.Arg272Ser) c.1626A>T (p.Arg542Ser) c.*596A>T (n.*596A>T) c.1551A>T (p.Arg517Ser) c.1101A>T (p.Arg367Ser) n.1267A>T c.*592A>T (n.*592A>T) c.663A>T (p.Arg221Ser) c.633A>T (p.Arg211Ser) c.537A>T (p.Arg179Ser) c.609A>T (p.Arg203Ser) c.318A>T (p.Arg106Ser) c.222A>T (p.Arg74Ser) n.2169A>T n.1025A>T c.1299A>T (p.Arg433Ser) c.1353A>T (p.Arg451Ser) | dbSNP |
5 | g.68295206A>C | CA444672596 | PIK3R1 | c.727A>C (p.Arg243=) c.817A>C (p.Arg273=) c.1627A>C (p.Arg543=) c.*597A>C (n.*597A>C) c.1552A>C (p.Arg518=) c.1102A>C (p.Arg368=) n.1268A>C c.*593A>C (n.*593A>C) c.664A>C (p.Arg222=) c.634A>C (p.Arg212=) c.538A>C (p.Arg180=) c.610A>C (p.Arg204=) c.319A>C (p.Arg107=) c.223A>C (p.Arg75=) n.2170A>C n.1026A>C c.1300A>C (p.Arg434=) c.1354A>C (p.Arg452=) | |
5 | g.68295206A>G | CA359882803 | PIK3R1 | c.727A>G (p.Arg243Gly) c.817A>G (p.Arg273Gly) c.1627A>G (p.Arg543Gly) c.*597A>G (n.*597A>G) c.1552A>G (p.Arg518Gly) c.1102A>G (p.Arg368Gly) n.1268A>G c.*593A>G (n.*593A>G) c.664A>G (p.Arg222Gly) c.634A>G (p.Arg212Gly) c.538A>G (p.Arg180Gly) c.610A>G (p.Arg204Gly) c.319A>G (p.Arg107Gly) c.223A>G (p.Arg75Gly) n.2170A>G n.1026A>G c.1300A>G (p.Arg434Gly) c.1354A>G (p.Arg452Gly) | |
5 | g.68295206A>T | CA359882805 | PIK3R1 | c.727A>T (p.Arg243Ter) c.817A>T (p.Arg273Ter) c.1627A>T (p.Arg543Ter) c.*597A>T (n.*597A>T) c.1552A>T (p.Arg518Ter) c.1102A>T (p.Arg368Ter) n.1268A>T c.*593A>T (n.*593A>T) c.664A>T (p.Arg222Ter) c.634A>T (p.Arg212Ter) c.538A>T (p.Arg180Ter) c.610A>T (p.Arg204Ter) c.319A>T (p.Arg107Ter) c.223A>T (p.Arg75Ter) n.2170A>T n.1026A>T c.1300A>T (p.Arg434Ter) c.1354A>T (p.Arg452Ter) | |
5 | g.68295207G>A | CA359882807 | PIK3R1 | c.728G>A (p.Arg243Lys) c.818G>A (p.Arg273Lys) c.1628G>A (p.Arg543Lys) c.*598G>A (n.*598G>A) c.1553G>A (p.Arg518Lys) c.1103G>A (p.Arg368Lys) n.1269G>A c.*594G>A (n.*594G>A) c.665G>A (p.Arg222Lys) c.635G>A (p.Arg212Lys) c.539G>A (p.Arg180Lys) c.611G>A (p.Arg204Lys) c.320G>A (p.Arg107Lys) c.224G>A (p.Arg75Lys) n.2171G>A n.1027G>A c.1301G>A (p.Arg434Lys) c.1355G>A (p.Arg452Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.68295207G>C | CA359882810 | PIK3R1 | c.728G>C (p.Arg243Thr) c.818G>C (p.Arg273Thr) c.1628G>C (p.Arg543Thr) c.*598G>C (n.*598G>C) c.1553G>C (p.Arg518Thr) c.1103G>C (p.Arg368Thr) n.1269G>C c.*594G>C (n.*594G>C) c.665G>C (p.Arg222Thr) c.635G>C (p.Arg212Thr) c.539G>C (p.Arg180Thr) c.611G>C (p.Arg204Thr) c.320G>C (p.Arg107Thr) c.224G>C (p.Arg75Thr) n.2171G>C n.1027G>C c.1301G>C (p.Arg434Thr) c.1355G>C (p.Arg452Thr) | dbSNP |
5 | g.68295207G= | CA1553406149 | PIK3R1 | c.728G= (p.Arg243=) c.818G= (p.Arg273=) c.1628G= (p.Arg543=) c.*598G= (n.*598G=) c.1553G= (p.Arg518=) c.1103G= (p.Arg368=) n.1269G= c.*594G= (n.*594G=) c.665G= (p.Arg222=) c.635G= (p.Arg212=) c.539G= (p.Arg180=) c.611G= (p.Arg204=) c.320G= (p.Arg107=) c.224G= (p.Arg75=) n.2171G= n.1027G= c.1301G= (p.Arg434=) c.1355G= (p.Arg452=) | |
5 | g.68295207G>T | CA359882812 | PIK3R1 | c.728G>T (p.Arg243Ile) c.818G>T (p.Arg273Ile) c.1628G>T (p.Arg543Ile) c.*598G>T (n.*598G>T) c.1553G>T (p.Arg518Ile) c.1103G>T (p.Arg368Ile) n.1269G>T c.*594G>T (n.*594G>T) c.665G>T (p.Arg222Ile) c.635G>T (p.Arg212Ile) c.539G>T (p.Arg180Ile) c.611G>T (p.Arg204Ile) c.320G>T (p.Arg107Ile) c.224G>T (p.Arg75Ile) n.2171G>T n.1027G>T c.1301G>T (p.Arg434Ile) c.1355G>T (p.Arg452Ile) | COSMIC COSMIC COSMIC |
5 | g.68295208A>C | CA359882813 | PIK3R1 | c.729A>C (p.Arg243Ser) c.819A>C (p.Arg273Ser) c.1629A>C (p.Arg543Ser) c.*599A>C (n.*599A>C) c.1554A>C (p.Arg518Ser) c.1104A>C (p.Arg368Ser) n.1270A>C c.*595A>C (n.*595A>C) c.666A>C (p.Arg222Ser) c.636A>C (p.Arg212Ser) c.540A>C (p.Arg180Ser) c.612A>C (p.Arg204Ser) c.321A>C (p.Arg107Ser) c.225A>C (p.Arg75Ser) n.2172A>C n.1028A>C c.1302A>C (p.Arg434Ser) c.1356A>C (p.Arg452Ser) | |
5 | g.68295208A>G | CA444672601 | PIK3R1 | c.729A>G (p.Arg243=) c.819A>G (p.Arg273=) c.1629A>G (p.Arg543=) c.*599A>G (n.*599A>G) c.1554A>G (p.Arg518=) c.1104A>G (p.Arg368=) n.1270A>G c.*595A>G (n.*595A>G) c.666A>G (p.Arg222=) c.636A>G (p.Arg212=) c.540A>G (p.Arg180=) c.612A>G (p.Arg204=) c.321A>G (p.Arg107=) c.225A>G (p.Arg75=) n.2172A>G n.1028A>G c.1302A>G (p.Arg434=) c.1356A>G (p.Arg452=) | |
5 | g.68295208A>T | CA359882814 | PIK3R1 | c.729A>T (p.Arg243Ser) c.819A>T (p.Arg273Ser) c.1629A>T (p.Arg543Ser) c.*599A>T (n.*599A>T) c.1554A>T (p.Arg518Ser) c.1104A>T (p.Arg368Ser) n.1270A>T c.*595A>T (n.*595A>T) c.666A>T (p.Arg222Ser) c.636A>T (p.Arg212Ser) c.540A>T (p.Arg180Ser) c.612A>T (p.Arg204Ser) c.321A>T (p.Arg107Ser) c.225A>T (p.Arg75Ser) n.2172A>T n.1028A>T c.1302A>T (p.Arg434Ser) c.1356A>T (p.Arg452Ser) | |
5 | g.68295209A>C | CA444672602 | PIK3R1 | c.730A>C (p.Arg244=) c.820A>C (p.Arg274=) c.1630A>C (p.Arg544=) c.*600A>C (n.*600A>C) c.1555A>C (p.Arg519=) c.1105A>C (p.Arg369=) n.1271A>C c.*596A>C (n.*596A>C) c.667A>C (p.Arg223=) c.637A>C (p.Arg213=) c.541A>C (p.Arg181=) c.613A>C (p.Arg205=) c.322A>C (p.Arg108=) c.226A>C (p.Arg76=) n.2173A>C n.1029A>C c.1303A>C (p.Arg435=) c.1357A>C (p.Arg453=) | gnomAD v4 |
5 | g.68295209A>G | CA359882816 | PIK3R1 | c.730A>G (p.Arg244Gly) c.820A>G (p.Arg274Gly) c.1630A>G (p.Arg544Gly) c.*600A>G (n.*600A>G) c.1555A>G (p.Arg519Gly) c.1105A>G (p.Arg369Gly) n.1271A>G c.*596A>G (n.*596A>G) c.667A>G (p.Arg223Gly) c.637A>G (p.Arg213Gly) c.541A>G (p.Arg181Gly) c.613A>G (p.Arg205Gly) c.322A>G (p.Arg108Gly) c.226A>G (p.Arg76Gly) n.2173A>G n.1029A>G c.1303A>G (p.Arg435Gly) c.1357A>G (p.Arg453Gly) | dbSNP |
5 | g.68295209A>T | CA359882818 | PIK3R1 | c.730A>T (p.Arg244Ter) c.820A>T (p.Arg274Ter) c.1630A>T (p.Arg544Ter) c.*600A>T (n.*600A>T) c.1555A>T (p.Arg519Ter) c.1105A>T (p.Arg369Ter) n.1271A>T c.*596A>T (n.*596A>T) c.667A>T (p.Arg223Ter) c.637A>T (p.Arg213Ter) c.541A>T (p.Arg181Ter) c.613A>T (p.Arg205Ter) c.322A>T (p.Arg108Ter) c.226A>T (p.Arg76Ter) n.2173A>T n.1029A>T c.1303A>T (p.Arg435Ter) c.1357A>T (p.Arg453Ter) | COSMIC COSMIC COSMIC |
5 | g.68295210G>A | CA359882821 | PIK3R1 | c.731G>A (p.Arg244Lys) c.821G>A (p.Arg274Lys) c.1631G>A (p.Arg544Lys) c.*601G>A (n.*601G>A) c.1556G>A (p.Arg519Lys) c.1106G>A (p.Arg369Lys) n.1272G>A c.*597G>A (n.*597G>A) c.668G>A (p.Arg223Lys) c.638G>A (p.Arg213Lys) c.542G>A (p.Arg181Lys) c.614G>A (p.Arg205Lys) c.323G>A (p.Arg108Lys) c.227G>A (p.Arg76Lys) n.2174G>A n.1030G>A c.1304G>A (p.Arg435Lys) c.1358G>A (p.Arg453Lys) | |
5 | g.68295210G>C | CA359882823 | PIK3R1 | c.731G>C (p.Arg244Thr) c.821G>C (p.Arg274Thr) c.1631G>C (p.Arg544Thr) c.*601G>C (n.*601G>C) c.1556G>C (p.Arg519Thr) c.1106G>C (p.Arg369Thr) n.1272G>C c.*597G>C (n.*597G>C) c.668G>C (p.Arg223Thr) c.638G>C (p.Arg213Thr) c.542G>C (p.Arg181Thr) c.614G>C (p.Arg205Thr) c.323G>C (p.Arg108Thr) c.227G>C (p.Arg76Thr) n.2174G>C n.1030G>C c.1304G>C (p.Arg435Thr) c.1358G>C (p.Arg453Thr) | dbSNP |
5 | g.68295210G>T | CA359882825 | PIK3R1 | c.731G>T (p.Arg244Ile) c.821G>T (p.Arg274Ile) c.1631G>T (p.Arg544Ile) c.*601G>T (n.*601G>T) c.1556G>T (p.Arg519Ile) c.1106G>T (p.Arg369Ile) n.1272G>T c.*597G>T (n.*597G>T) c.668G>T (p.Arg223Ile) c.638G>T (p.Arg213Ile) c.542G>T (p.Arg181Ile) c.614G>T (p.Arg205Ile) c.323G>T (p.Arg108Ile) c.227G>T (p.Arg76Ile) n.2174G>T n.1030G>T c.1304G>T (p.Arg435Ile) c.1358G>T (p.Arg453Ile) | |
5 | g.68295211A>C | CA359882827 | PIK3R1 | c.732A>C (p.Arg244Ser) c.822A>C (p.Arg274Ser) c.1632A>C (p.Arg544Ser) c.*602A>C (n.*602A>C) c.1557A>C (p.Arg519Ser) c.1107A>C (p.Arg369Ser) n.1273A>C c.*598A>C (n.*598A>C) c.669A>C (p.Arg223Ser) c.639A>C (p.Arg213Ser) c.543A>C (p.Arg181Ser) c.615A>C (p.Arg205Ser) c.324A>C (p.Arg108Ser) c.228A>C (p.Arg76Ser) n.2175A>C n.1031A>C c.1305A>C (p.Arg435Ser) c.1359A>C (p.Arg453Ser) | |
5 | g.68295211A>G | CA444672606 | PIK3R1 | c.732A>G (p.Arg244=) c.822A>G (p.Arg274=) c.1632A>G (p.Arg544=) c.*602A>G (n.*602A>G) c.1557A>G (p.Arg519=) c.1107A>G (p.Arg369=) n.1273A>G c.*598A>G (n.*598A>G) c.669A>G (p.Arg223=) c.639A>G (p.Arg213=) c.543A>G (p.Arg181=) c.615A>G (p.Arg205=) c.324A>G (p.Arg108=) c.228A>G (p.Arg76=) n.2175A>G n.1031A>G c.1305A>G (p.Arg435=) c.1359A>G (p.Arg453=) | |
5 | g.68295211A>T | CA359882829 | PIK3R1 | c.732A>T (p.Arg244Ser) c.822A>T (p.Arg274Ser) c.1632A>T (p.Arg544Ser) c.*602A>T (n.*602A>T) c.1557A>T (p.Arg519Ser) c.1107A>T (p.Arg369Ser) n.1273A>T c.*598A>T (n.*598A>T) c.669A>T (p.Arg223Ser) c.639A>T (p.Arg213Ser) c.543A>T (p.Arg181Ser) c.615A>T (p.Arg205Ser) c.324A>T (p.Arg108Ser) c.228A>T (p.Arg76Ser) n.2175A>T n.1031A>T c.1305A>T (p.Arg435Ser) c.1359A>T (p.Arg453Ser) | |
5 | g.68295212T>A | CA359882833 | PIK3R1 | c.733T>A (p.Leu245Met) c.823T>A (p.Leu275Met) c.1633T>A (p.Leu545Met) c.*603T>A (n.*603T>A) c.1558T>A (p.Leu520Met) c.1108T>A (p.Leu370Met) n.1274T>A c.*599T>A (n.*599T>A) c.670T>A (p.Leu224Met) c.640T>A (p.Leu214Met) c.544T>A (p.Leu182Met) c.616T>A (p.Leu206Met) c.325T>A (p.Leu109Met) c.229T>A (p.Leu77Met) n.2176T>A n.1032T>A c.1306T>A (p.Leu436Met) c.1360T>A (p.Leu454Met) | dbSNP |
5 | g.68295212T>C | CA444672607 | PIK3R1 | c.733T>C (p.Leu245=) c.823T>C (p.Leu275=) c.1633T>C (p.Leu545=) c.*603T>C (n.*603T>C) c.1558T>C (p.Leu520=) c.1108T>C (p.Leu370=) n.1274T>C c.*599T>C (n.*599T>C) c.670T>C (p.Leu224=) c.640T>C (p.Leu214=) c.544T>C (p.Leu182=) c.616T>C (p.Leu206=) c.325T>C (p.Leu109=) c.229T>C (p.Leu77=) n.2176T>C n.1032T>C c.1306T>C (p.Leu436=) c.1360T>C (p.Leu454=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.68295212T>G | CA359882831 | PIK3R1 | c.733T>G (p.Leu245Val) c.823T>G (p.Leu275Val) c.1633T>G (p.Leu545Val) c.*603T>G (n.*603T>G) c.1558T>G (p.Leu520Val) c.1108T>G (p.Leu370Val) n.1274T>G c.*599T>G (n.*599T>G) c.670T>G (p.Leu224Val) c.640T>G (p.Leu214Val) c.544T>G (p.Leu182Val) c.616T>G (p.Leu206Val) c.325T>G (p.Leu109Val) c.229T>G (p.Leu77Val) n.2176T>G n.1032T>G c.1306T>G (p.Leu436Val) c.1360T>G (p.Leu454Val) | dbSNP |
5 | g.68295212T= | CA1553406150 | PIK3R1 | c.733T= (p.Leu245=) c.823T= (p.Leu275=) c.1633T= (p.Leu545=) c.*603T= (n.*603T=) c.1558T= (p.Leu520=) c.1108T= (p.Leu370=) n.1274T= c.*599T= (n.*599T=) c.670T= (p.Leu224=) c.640T= (p.Leu214=) c.544T= (p.Leu182=) c.616T= (p.Leu206=) c.325T= (p.Leu109=) c.229T= (p.Leu77=) n.2176T= n.1032T= c.1306T= (p.Leu436=) c.1360T= (p.Leu454=) | |
5 | g.68295213T>A | CA359882835 | PIK3R1 | c.734T>A (p.Leu245Ter) c.824T>A (p.Leu275Ter) c.1634T>A (p.Leu545Ter) c.*604T>A (n.*604T>A) c.1559T>A (p.Leu520Ter) c.1109T>A (p.Leu370Ter) n.1275T>A c.*600T>A (n.*600T>A) c.671T>A (p.Leu224Ter) c.641T>A (p.Leu214Ter) c.545T>A (p.Leu182Ter) c.617T>A (p.Leu206Ter) c.326T>A (p.Leu109Ter) c.230T>A (p.Leu77Ter) n.2177T>A n.1033T>A c.1307T>A (p.Leu436Ter) c.1361T>A (p.Leu454Ter) | |
5 | g.68295213T>C | CA359882838 | PIK3R1 | c.734T>C (p.Leu245Ser) c.824T>C (p.Leu275Ser) c.1634T>C (p.Leu545Ser) c.*604T>C (n.*604T>C) c.1559T>C (p.Leu520Ser) c.1109T>C (p.Leu370Ser) n.1275T>C c.*600T>C (n.*600T>C) c.671T>C (p.Leu224Ser) c.641T>C (p.Leu214Ser) c.545T>C (p.Leu182Ser) c.617T>C (p.Leu206Ser) c.326T>C (p.Leu109Ser) c.230T>C (p.Leu77Ser) n.2177T>C n.1033T>C c.1307T>C (p.Leu436Ser) c.1361T>C (p.Leu454Ser) | dbSNP |
5 | g.68295213T>G | CA359882840 | PIK3R1 | c.734T>G (p.Leu245Trp) c.824T>G (p.Leu275Trp) c.1634T>G (p.Leu545Trp) c.*604T>G (n.*604T>G) c.1559T>G (p.Leu520Trp) c.1109T>G (p.Leu370Trp) n.1275T>G c.*600T>G (n.*600T>G) c.671T>G (p.Leu224Trp) c.641T>G (p.Leu214Trp) c.545T>G (p.Leu182Trp) c.617T>G (p.Leu206Trp) c.326T>G (p.Leu109Trp) c.230T>G (p.Leu77Trp) n.2177T>G n.1033T>G c.1307T>G (p.Leu436Trp) c.1361T>G (p.Leu454Trp) | |
5 | g.68295214G>A | CA444672613 | PIK3R1 | c.735G>A (p.Leu245=) c.825G>A (p.Leu275=) c.1635G>A (p.Leu545=) c.*605G>A (n.*605G>A) c.1560G>A (p.Leu520=) c.1110G>A (p.Leu370=) n.1276G>A c.*601G>A (n.*601G>A) c.672G>A (p.Leu224=) c.642G>A (p.Leu214=) c.546G>A (p.Leu182=) c.618G>A (p.Leu206=) c.327G>A (p.Leu109=) c.231G>A (p.Leu77=) n.2178G>A n.1034G>A c.1308G>A (p.Leu436=) c.1362G>A (p.Leu454=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.68295214G>C | CA359882842 | PIK3R1 | c.735G>C (p.Leu245Phe) c.825G>C (p.Leu275Phe) c.1635G>C (p.Leu545Phe) c.*605G>C (n.*605G>C) c.1560G>C (p.Leu520Phe) c.1110G>C (p.Leu370Phe) n.1276G>C c.*601G>C (n.*601G>C) c.672G>C (p.Leu224Phe) c.642G>C (p.Leu214Phe) c.546G>C (p.Leu182Phe) c.618G>C (p.Leu206Phe) c.327G>C (p.Leu109Phe) c.231G>C (p.Leu77Phe) n.2178G>C n.1034G>C c.1308G>C (p.Leu436Phe) c.1362G>C (p.Leu454Phe) | |
5 | g.68295214G= | CA1553406151 | PIK3R1 | c.735G= (p.Leu245=) c.825G= (p.Leu275=) c.1635G= (p.Leu545=) c.*605G= (n.*605G=) c.1560G= (p.Leu520=) c.1110G= (p.Leu370=) n.1276G= c.*601G= (n.*601G=) c.672G= (p.Leu224=) c.642G= (p.Leu214=) c.546G= (p.Leu182=) c.618G= (p.Leu206=) c.327G= (p.Leu109=) c.231G= (p.Leu77=) n.2178G= n.1034G= c.1308G= (p.Leu436=) c.1362G= (p.Leu454=) | |
5 | g.68295214G>T | CA359882844 | PIK3R1 | c.735G>T (p.Leu245Phe) c.825G>T (p.Leu275Phe) c.1635G>T (p.Leu545Phe) c.*605G>T (n.*605G>T) c.1560G>T (p.Leu520Phe) c.1110G>T (p.Leu370Phe) n.1276G>T c.*601G>T (n.*601G>T) c.672G>T (p.Leu224Phe) c.642G>T (p.Leu214Phe) c.546G>T (p.Leu182Phe) c.618G>T (p.Leu206Phe) c.327G>T (p.Leu109Phe) c.231G>T (p.Leu77Phe) n.2178G>T n.1034G>T c.1308G>T (p.Leu436Phe) c.1362G>T (p.Leu454Phe) | dbSNP |
5 | g.68295215G>A | CA359882846 | PIK3R1 | c.736G>A (p.Glu246Lys) c.826G>A (p.Glu276Lys) c.1636G>A (p.Glu546Lys) c.*606G>A (n.*606G>A) c.1561G>A (p.Glu521Lys) c.1111G>A (p.Glu371Lys) n.1277G>A c.*602G>A (n.*602G>A) c.673G>A (p.Glu225Lys) c.643G>A (p.Glu215Lys) c.547G>A (p.Glu183Lys) c.619G>A (p.Glu207Lys) c.328G>A (p.Glu110Lys) c.232G>A (p.Glu78Lys) n.2179G>A n.1035G>A c.1309G>A (p.Glu437Lys) c.1363G>A (p.Glu455Lys) | dbSNP |
5 | g.68295215G>C | CA359882849 | PIK3R1 | c.736G>C (p.Glu246Gln) c.826G>C (p.Glu276Gln) c.1636G>C (p.Glu546Gln) c.*606G>C (n.*606G>C) c.1561G>C (p.Glu521Gln) c.1111G>C (p.Glu371Gln) n.1277G>C c.*602G>C (n.*602G>C) c.673G>C (p.Glu225Gln) c.643G>C (p.Glu215Gln) c.547G>C (p.Glu183Gln) c.619G>C (p.Glu207Gln) c.328G>C (p.Glu110Gln) c.232G>C (p.Glu78Gln) n.2179G>C n.1035G>C c.1309G>C (p.Glu437Gln) c.1363G>C (p.Glu455Gln) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
5 | g.68295215G= | CA1553406152 | PIK3R1 | c.736G= (p.Glu246=) c.826G= (p.Glu276=) c.1636G= (p.Glu546=) c.*606G= (n.*606G=) c.1561G= (p.Glu521=) c.1111G= (p.Glu371=) n.1277G= c.*602G= (n.*602G=) c.673G= (p.Glu225=) c.643G= (p.Glu215=) c.547G= (p.Glu183=) c.619G= (p.Glu207=) c.328G= (p.Glu110=) c.232G= (p.Glu78=) n.2179G= n.1035G= c.1309G= (p.Glu437=) c.1363G= (p.Glu455=) | |
5 | g.68295215G>T | CA359882851 | PIK3R1 | c.736G>T (p.Glu246Ter) c.826G>T (p.Glu276Ter) c.1636G>T (p.Glu546Ter) c.*606G>T (n.*606G>T) c.1561G>T (p.Glu521Ter) c.1111G>T (p.Glu371Ter) n.1277G>T c.*602G>T (n.*602G>T) c.673G>T (p.Glu225Ter) c.643G>T (p.Glu215Ter) c.547G>T (p.Glu183Ter) c.619G>T (p.Glu207Ter) c.328G>T (p.Glu110Ter) c.232G>T (p.Glu78Ter) n.2179G>T n.1035G>T c.1309G>T (p.Glu437Ter) c.1363G>T (p.Glu455Ter) | dbSNP |
5 | g.68295216A>C | CA359882853 | PIK3R1 | c.737A>C (p.Glu246Ala) c.827A>C (p.Glu276Ala) c.1637A>C (p.Glu546Ala) c.*607A>C (n.*607A>C) c.1562A>C (p.Glu521Ala) c.1112A>C (p.Glu371Ala) n.1278A>C c.*603A>C (n.*603A>C) c.674A>C (p.Glu225Ala) c.644A>C (p.Glu215Ala) c.548A>C (p.Glu183Ala) c.620A>C (p.Glu207Ala) c.329A>C (p.Glu110Ala) c.233A>C (p.Glu78Ala) n.2180A>C n.1036A>C c.1310A>C (p.Glu437Ala) c.1364A>C (p.Glu455Ala) | |
5 | g.68295216A>G | CA359882855 | PIK3R1 | c.737A>G (p.Glu246Gly) c.827A>G (p.Glu276Gly) c.1637A>G (p.Glu546Gly) c.*607A>G (n.*607A>G) c.1562A>G (p.Glu521Gly) c.1112A>G (p.Glu371Gly) n.1278A>G c.*603A>G (n.*603A>G) c.674A>G (p.Glu225Gly) c.644A>G (p.Glu215Gly) c.548A>G (p.Glu183Gly) c.620A>G (p.Glu207Gly) c.329A>G (p.Glu110Gly) c.233A>G (p.Glu78Gly) n.2180A>G n.1036A>G c.1310A>G (p.Glu437Gly) c.1364A>G (p.Glu455Gly) | |
5 | g.68295216A>T | CA359882857 | PIK3R1 | c.737A>T (p.Glu246Val) c.827A>T (p.Glu276Val) c.1637A>T (p.Glu546Val) c.*607A>T (n.*607A>T) c.1562A>T (p.Glu521Val) c.1112A>T (p.Glu371Val) n.1278A>T c.*603A>T (n.*603A>T) c.674A>T (p.Glu225Val) c.644A>T (p.Glu215Val) c.548A>T (p.Glu183Val) c.620A>T (p.Glu207Val) c.329A>T (p.Glu110Val) c.233A>T (p.Glu78Val) n.2180A>T n.1036A>T c.1310A>T (p.Glu437Val) c.1364A>T (p.Glu455Val) | |
5 | g.68295217A= | CA1553406153 | PIK3R1 | c.738A= (p.Glu246=) c.828A= (p.Glu276=) c.1638A= (p.Glu546=) c.*608A= (n.*608A=) c.1563A= (p.Glu521=) c.1113A= (p.Glu371=) n.1279A= c.*604A= (n.*604A=) c.675A= (p.Glu225=) c.645A= (p.Glu215=) c.549A= (p.Glu183=) c.621A= (p.Glu207=) c.330A= (p.Glu110=) c.234A= (p.Glu78=) n.2181A= n.1037A= c.1311A= (p.Glu437=) c.1365A= (p.Glu455=) | |
5 | g.68295217A>C | CA359882859 | PIK3R1 | c.738A>C (p.Glu246Asp) c.828A>C (p.Glu276Asp) c.1638A>C (p.Glu546Asp) c.*608A>C (n.*608A>C) c.1563A>C (p.Glu521Asp) c.1113A>C (p.Glu371Asp) n.1279A>C c.*604A>C (n.*604A>C) c.675A>C (p.Glu225Asp) c.645A>C (p.Glu215Asp) c.549A>C (p.Glu183Asp) c.621A>C (p.Glu207Asp) c.330A>C (p.Glu110Asp) c.234A>C (p.Glu78Asp) n.2181A>C n.1037A>C c.1311A>C (p.Glu437Asp) c.1365A>C (p.Glu455Asp) | |
5 | g.68295217A>G | CA444672618 | PIK3R1 | c.738A>G (p.Glu246=) c.828A>G (p.Glu276=) c.1638A>G (p.Glu546=) c.*608A>G (n.*608A>G) c.1563A>G (p.Glu521=) c.1113A>G (p.Glu371=) n.1279A>G c.*604A>G (n.*604A>G) c.675A>G (p.Glu225=) c.645A>G (p.Glu215=) c.549A>G (p.Glu183=) c.621A>G (p.Glu207=) c.330A>G (p.Glu110=) c.234A>G (p.Glu78=) n.2181A>G n.1037A>G c.1311A>G (p.Glu437=) c.1365A>G (p.Glu455=) | dbSNP gnomAD v2 |
5 | g.68295217A>T | CA359882861 | PIK3R1 | c.738A>T (p.Glu246Asp) c.828A>T (p.Glu276Asp) c.1638A>T (p.Glu546Asp) c.*608A>T (n.*608A>T) c.1563A>T (p.Glu521Asp) c.1113A>T (p.Glu371Asp) n.1279A>T c.*604A>T (n.*604A>T) c.675A>T (p.Glu225Asp) c.645A>T (p.Glu215Asp) c.549A>T (p.Glu183Asp) c.621A>T (p.Glu207Asp) c.330A>T (p.Glu110Asp) c.234A>T (p.Glu78Asp) n.2181A>T n.1037A>T c.1311A>T (p.Glu437Asp) c.1365A>T (p.Glu455Asp) | |
5 | g.68295218G>A | CA359882863 | PIK3R1 | c.739G>A (p.Glu247Lys) c.829G>A (p.Glu277Lys) c.1639G>A (p.Glu547Lys) c.*609G>A (n.*609G>A) c.1564G>A (p.Glu522Lys) c.1114G>A (p.Glu372Lys) n.1280G>A c.*605G>A (n.*605G>A) c.676G>A (p.Glu226Lys) c.646G>A (p.Glu216Lys) c.550G>A (p.Glu184Lys) c.622G>A (p.Glu208Lys) c.331G>A (p.Glu111Lys) c.235G>A (p.Glu79Lys) n.2182G>A n.1038G>A c.1312G>A (p.Glu438Lys) c.1366G>A (p.Glu456Lys) | dbSNP |
5 | g.68295218G>C | CA359882867 | PIK3R1 | c.739G>C (p.Glu247Gln) c.829G>C (p.Glu277Gln) c.1639G>C (p.Glu547Gln) c.*609G>C (n.*609G>C) c.1564G>C (p.Glu522Gln) c.1114G>C (p.Glu372Gln) n.1280G>C c.*605G>C (n.*605G>C) c.676G>C (p.Glu226Gln) c.646G>C (p.Glu216Gln) c.550G>C (p.Glu184Gln) c.622G>C (p.Glu208Gln) c.331G>C (p.Glu111Gln) c.235G>C (p.Glu79Gln) n.2182G>C n.1038G>C c.1312G>C (p.Glu438Gln) c.1366G>C (p.Glu456Gln) | dbSNP |
5 | g.68295218G>T | CA359882865 | PIK3R1 | c.739G>T (p.Glu247Ter) c.829G>T (p.Glu277Ter) c.1639G>T (p.Glu547Ter) c.*609G>T (n.*609G>T) c.1564G>T (p.Glu522Ter) c.1114G>T (p.Glu372Ter) n.1280G>T c.*605G>T (n.*605G>T) c.676G>T (p.Glu226Ter) c.646G>T (p.Glu216Ter) c.550G>T (p.Glu184Ter) c.622G>T (p.Glu208Ter) c.331G>T (p.Glu111Ter) c.235G>T (p.Glu79Ter) n.2182G>T n.1038G>T c.1312G>T (p.Glu438Ter) c.1366G>T (p.Glu456Ter) | |
5 | g.68295219A>C | CA359882869 | PIK3R1 | c.740A>C (p.Glu247Ala) c.830A>C (p.Glu277Ala) c.1640A>C (p.Glu547Ala) c.*610A>C (n.*610A>C) c.1565A>C (p.Glu522Ala) c.1115A>C (p.Glu372Ala) n.1281A>C c.*606A>C (n.*606A>C) c.677A>C (p.Glu226Ala) c.647A>C (p.Glu216Ala) c.551A>C (p.Glu184Ala) c.623A>C (p.Glu208Ala) c.332A>C (p.Glu111Ala) c.236A>C (p.Glu79Ala) n.2183A>C n.1039A>C c.1313A>C (p.Glu438Ala) c.1367A>C (p.Glu456Ala) | |
5 | g.68295219A>G | CA359882872 | PIK3R1 | c.740A>G (p.Glu247Gly) c.830A>G (p.Glu277Gly) c.1640A>G (p.Glu547Gly) c.*610A>G (n.*610A>G) c.1565A>G (p.Glu522Gly) c.1115A>G (p.Glu372Gly) n.1281A>G c.*606A>G (n.*606A>G) c.677A>G (p.Glu226Gly) c.647A>G (p.Glu216Gly) c.551A>G (p.Glu184Gly) c.623A>G (p.Glu208Gly) c.332A>G (p.Glu111Gly) c.236A>G (p.Glu79Gly) n.2183A>G n.1039A>G c.1313A>G (p.Glu438Gly) c.1367A>G (p.Glu456Gly) | |
5 | g.68295219A>T | CA359882873 | PIK3R1 | c.740A>T (p.Glu247Val) c.830A>T (p.Glu277Val) c.1640A>T (p.Glu547Val) c.*610A>T (n.*610A>T) c.1565A>T (p.Glu522Val) c.1115A>T (p.Glu372Val) n.1281A>T c.*606A>T (n.*606A>T) c.677A>T (p.Glu226Val) c.647A>T (p.Glu216Val) c.551A>T (p.Glu184Val) c.623A>T (p.Glu208Val) c.332A>T (p.Glu111Val) c.236A>T (p.Glu79Val) n.2183A>T n.1039A>T c.1313A>T (p.Glu438Val) c.1367A>T (p.Glu456Val) | |
5 | g.68295220A>C | CA359882875 | PIK3R1 | c.741A>C (p.Glu247Asp) c.831A>C (p.Glu277Asp) c.1641A>C (p.Glu547Asp) c.*611A>C (n.*611A>C) c.1566A>C (p.Glu522Asp) c.1116A>C (p.Glu372Asp) n.1282A>C c.*607A>C (n.*607A>C) c.678A>C (p.Glu226Asp) c.648A>C (p.Glu216Asp) c.552A>C (p.Glu184Asp) c.624A>C (p.Glu208Asp) c.333A>C (p.Glu111Asp) c.237A>C (p.Glu79Asp) n.2184A>C n.1040A>C c.1314A>C (p.Glu438Asp) c.1368A>C (p.Glu456Asp) | |
5 | g.68295220A>G | CA444672622 | PIK3R1 | c.741A>G (p.Glu247=) c.831A>G (p.Glu277=) c.1641A>G (p.Glu547=) c.*611A>G (n.*611A>G) c.1566A>G (p.Glu522=) c.1116A>G (p.Glu372=) n.1282A>G c.*607A>G (n.*607A>G) c.678A>G (p.Glu226=) c.648A>G (p.Glu216=) c.552A>G (p.Glu184=) c.624A>G (p.Glu208=) c.333A>G (p.Glu111=) c.237A>G (p.Glu79=) n.2184A>G n.1040A>G c.1314A>G (p.Glu438=) c.1368A>G (p.Glu456=) | gnomAD v4 |
5 | g.68295220A>T | CA359882877 | PIK3R1 | c.741A>T (p.Glu247Asp) c.831A>T (p.Glu277Asp) c.1641A>T (p.Glu547Asp) c.*611A>T (n.*611A>T) c.1566A>T (p.Glu522Asp) c.1116A>T (p.Glu372Asp) n.1282A>T c.*607A>T (n.*607A>T) c.678A>T (p.Glu226Asp) c.648A>T (p.Glu216Asp) c.552A>T (p.Glu184Asp) c.624A>T (p.Glu208Asp) c.333A>T (p.Glu111Asp) c.237A>T (p.Glu79Asp) n.2184A>T n.1040A>T c.1314A>T (p.Glu438Asp) c.1368A>T (p.Glu456Asp) | dbSNP |
5 | g.68295221G>A | CA359882879 | PIK3R1 | c.742G>A (p.Asp248Asn) c.832G>A (p.Asp278Asn) c.1642G>A (p.Asp548Asn) c.*612G>A (n.*612G>A) c.1567G>A (p.Asp523Asn) c.1117G>A (p.Asp373Asn) n.1283G>A c.*608G>A (n.*608G>A) c.679G>A (p.Asp227Asn) c.649G>A (p.Asp217Asn) c.553G>A (p.Asp185Asn) c.625G>A (p.Asp209Asn) c.334G>A (p.Asp112Asn) c.238G>A (p.Asp80Asn) n.2185G>A n.1041G>A c.1315G>A (p.Asp439Asn) c.1369G>A (p.Asp457Asn) | dbSNP |
5 | g.68295221G>C | CA359882882 | PIK3R1 | c.742G>C (p.Asp248His) c.832G>C (p.Asp278His) c.1642G>C (p.Asp548His) c.*612G>C (n.*612G>C) c.1567G>C (p.Asp523His) c.1117G>C (p.Asp373His) n.1283G>C c.*608G>C (n.*608G>C) c.679G>C (p.Asp227His) c.649G>C (p.Asp217His) c.553G>C (p.Asp185His) c.625G>C (p.Asp209His) c.334G>C (p.Asp112His) c.238G>C (p.Asp80His) n.2185G>C n.1041G>C c.1315G>C (p.Asp439His) c.1369G>C (p.Asp457His) | dbSNP |
5 | g.68295221G>T | CA359882884 | PIK3R1 | c.742G>T (p.Asp248Tyr) c.832G>T (p.Asp278Tyr) c.1642G>T (p.Asp548Tyr) c.*612G>T (n.*612G>T) c.1567G>T (p.Asp523Tyr) c.1117G>T (p.Asp373Tyr) n.1283G>T c.*608G>T (n.*608G>T) c.679G>T (p.Asp227Tyr) c.649G>T (p.Asp217Tyr) c.553G>T (p.Asp185Tyr) c.625G>T (p.Asp209Tyr) c.334G>T (p.Asp112Tyr) c.238G>T (p.Asp80Tyr) n.2185G>T n.1041G>T c.1315G>T (p.Asp439Tyr) c.1369G>T (p.Asp457Tyr) | |
5 | g.68295223_68295227del | CA2695204584 | PIK3R1 | c.744_748del (p.Asp248GlufsTer6) c.834_838del (p.Asp278GlufsTer6) c.1644_1648del (p.Asp548GlufsTer6) c.*614_*618del (n.*614_*618del) c.1569_1573del (p.Asp523GlufsTer6) c.1119_1123del (p.Asp373GlufsTer6) n.1285_1289del c.*610_*614del (n.*610_*614del) c.681_685del (p.Asp227GlufsTer6) c.651_655del (p.Asp217GlufsTer6) c.555_559del (p.Asp185GlufsTer6) c.627_631del (p.Asp209GlufsTer6) c.336_340del (p.Asp112GlufsTer6) c.240_244del (p.Asp80GlufsTer6) n.2187_2191del n.1043_1047del c.1317_1321del (p.Asp439GlufsTer6) c.1371_1375del (p.Asp457GlufsTer6) | |
5 | g.68295222A>C | CA359882887 | PIK3R1 | c.743A>C (p.Asp248Ala) c.833A>C (p.Asp278Ala) c.1643A>C (p.Asp548Ala) c.*613A>C (n.*613A>C) c.1568A>C (p.Asp523Ala) c.1118A>C (p.Asp373Ala) n.1284A>C c.*609A>C (n.*609A>C) c.680A>C (p.Asp227Ala) c.650A>C (p.Asp217Ala) c.554A>C (p.Asp185Ala) c.626A>C (p.Asp209Ala) c.335A>C (p.Asp112Ala) c.239A>C (p.Asp80Ala) n.2186A>C n.1042A>C c.1316A>C (p.Asp439Ala) c.1370A>C (p.Asp457Ala) | |
5 | g.68295222A>G | CA359882888 | PIK3R1 | c.743A>G (p.Asp248Gly) c.833A>G (p.Asp278Gly) c.1643A>G (p.Asp548Gly) c.*613A>G (n.*613A>G) c.1568A>G (p.Asp523Gly) c.1118A>G (p.Asp373Gly) n.1284A>G c.*609A>G (n.*609A>G) c.680A>G (p.Asp227Gly) c.650A>G (p.Asp217Gly) c.554A>G (p.Asp185Gly) c.626A>G (p.Asp209Gly) c.335A>G (p.Asp112Gly) c.239A>G (p.Asp80Gly) n.2186A>G n.1042A>G c.1316A>G (p.Asp439Gly) c.1370A>G (p.Asp457Gly) | COSMIC |
5 | g.68295222A>T | CA359882890 | PIK3R1 | c.743A>T (p.Asp248Val) c.833A>T (p.Asp278Val) c.1643A>T (p.Asp548Val) c.*613A>T (n.*613A>T) c.1568A>T (p.Asp523Val) c.1118A>T (p.Asp373Val) n.1284A>T c.*609A>T (n.*609A>T) c.680A>T (p.Asp227Val) c.650A>T (p.Asp217Val) c.554A>T (p.Asp185Val) c.626A>T (p.Asp209Val) c.335A>T (p.Asp112Val) c.239A>T (p.Asp80Val) n.2186A>T n.1042A>T c.1316A>T (p.Asp439Val) c.1370A>T (p.Asp457Val) | dbSNP |
5 | g.68295223C>A | CA359882892 | PIK3R1 | c.744C>A (p.Asp248Glu) c.834C>A (p.Asp278Glu) c.1644C>A (p.Asp548Glu) c.*614C>A (n.*614C>A) c.1569C>A (p.Asp523Glu) c.1119C>A (p.Asp373Glu) n.1285C>A c.*610C>A (n.*610C>A) c.681C>A (p.Asp227Glu) c.651C>A (p.Asp217Glu) c.555C>A (p.Asp185Glu) c.627C>A (p.Asp209Glu) c.336C>A (p.Asp112Glu) c.240C>A (p.Asp80Glu) n.2187C>A n.1043C>A c.1317C>A (p.Asp439Glu) c.1371C>A (p.Asp457Glu) | dbSNP |
5 | g.68295223C>G | CA359882894 | PIK3R1 | c.744C>G (p.Asp248Glu) c.834C>G (p.Asp278Glu) c.1644C>G (p.Asp548Glu) c.*614C>G (n.*614C>G) c.1569C>G (p.Asp523Glu) c.1119C>G (p.Asp373Glu) n.1285C>G c.*610C>G (n.*610C>G) c.681C>G (p.Asp227Glu) c.651C>G (p.Asp217Glu) c.555C>G (p.Asp185Glu) c.627C>G (p.Asp209Glu) c.336C>G (p.Asp112Glu) c.240C>G (p.Asp80Glu) n.2187C>G n.1043C>G c.1317C>G (p.Asp439Glu) c.1371C>G (p.Asp457Glu) | dbSNP |
5 | g.68295223C>T | CA444672626 | PIK3R1 | c.744C>T (p.Asp248=) c.834C>T (p.Asp278=) c.1644C>T (p.Asp548=) c.*614C>T (n.*614C>T) c.1569C>T (p.Asp523=) c.1119C>T (p.Asp373=) n.1285C>T c.*610C>T (n.*610C>T) c.681C>T (p.Asp227=) c.651C>T (p.Asp217=) c.555C>T (p.Asp185=) c.627C>T (p.Asp209=) c.336C>T (p.Asp112=) c.240C>T (p.Asp80=) n.2187C>T n.1043C>T c.1317C>T (p.Asp439=) c.1371C>T (p.Asp457=) | |
5 | g.68295224T>A | CA359882897 | PIK3R1 | c.745T>A (p.Leu249Met) c.835T>A (p.Leu279Met) c.1645T>A (p.Leu549Met) c.*615T>A (n.*615T>A) c.1570T>A (p.Leu524Met) c.1120T>A (p.Leu374Met) n.1286T>A c.*611T>A (n.*611T>A) c.682T>A (p.Leu228Met) c.652T>A (p.Leu218Met) c.556T>A (p.Leu186Met) c.628T>A (p.Leu210Met) c.337T>A (p.Leu113Met) c.241T>A (p.Leu81Met) n.2188T>A n.1044T>A c.1318T>A (p.Leu440Met) c.1372T>A (p.Leu458Met) | dbSNP |
5 | g.68295224T>C | CA444672631 | PIK3R1 | c.745T>C (p.Leu249=) c.835T>C (p.Leu279=) c.1645T>C (p.Leu549=) c.*615T>C (n.*615T>C) c.1570T>C (p.Leu524=) c.1120T>C (p.Leu374=) n.1286T>C c.*611T>C (n.*611T>C) c.682T>C (p.Leu228=) c.652T>C (p.Leu218=) c.556T>C (p.Leu186=) c.628T>C (p.Leu210=) c.337T>C (p.Leu113=) c.241T>C (p.Leu81=) n.2188T>C n.1044T>C c.1318T>C (p.Leu440=) c.1372T>C (p.Leu458=) | |
5 | g.68295224T>G | CA3290455 | PIK3R1 | c.745T>G (p.Leu249Val) c.835T>G (p.Leu279Val) c.1645T>G (p.Leu549Val) c.*615T>G (n.*615T>G) c.1570T>G (p.Leu524Val) c.1120T>G (p.Leu374Val) n.1286T>G c.*611T>G (n.*611T>G) c.682T>G (p.Leu228Val) c.652T>G (p.Leu218Val) c.556T>G (p.Leu186Val) c.628T>G (p.Leu210Val) c.337T>G (p.Leu113Val) c.241T>G (p.Leu81Val) n.2188T>G n.1044T>G c.1318T>G (p.Leu440Val) c.1372T>G (p.Leu458Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.68295224T= | CA1553406154 | PIK3R1 | c.745T= (p.Leu249=) c.835T= (p.Leu279=) c.1645T= (p.Leu549=) c.*615T= (n.*615T=) c.1570T= (p.Leu524=) c.1120T= (p.Leu374=) n.1286T= c.*611T= (n.*611T=) c.682T= (p.Leu228=) c.652T= (p.Leu218=) c.556T= (p.Leu186=) c.628T= (p.Leu210=) c.337T= (p.Leu113=) c.241T= (p.Leu81=) n.2188T= n.1044T= c.1318T= (p.Leu440=) c.1372T= (p.Leu458=) | |
5 | g.68295225T>A | CA359882900 | PIK3R1 | c.746T>A (p.Leu249Ter) c.836T>A (p.Leu279Ter) c.1646T>A (p.Leu549Ter) c.*616T>A (n.*616T>A) c.1571T>A (p.Leu524Ter) c.1121T>A (p.Leu374Ter) n.1287T>A c.*612T>A (n.*612T>A) c.683T>A (p.Leu228Ter) c.653T>A (p.Leu218Ter) c.557T>A (p.Leu186Ter) c.629T>A (p.Leu210Ter) c.338T>A (p.Leu113Ter) c.242T>A (p.Leu81Ter) n.2189T>A n.1045T>A c.1319T>A (p.Leu440Ter) c.1373T>A (p.Leu458Ter) | |
5 | g.68295225T>C | CA359882902 | PIK3R1 | c.746T>C (p.Leu249Ser) c.836T>C (p.Leu279Ser) c.1646T>C (p.Leu549Ser) c.*616T>C (n.*616T>C) c.1571T>C (p.Leu524Ser) c.1121T>C (p.Leu374Ser) n.1287T>C c.*612T>C (n.*612T>C) c.683T>C (p.Leu228Ser) c.653T>C (p.Leu218Ser) c.557T>C (p.Leu186Ser) c.629T>C (p.Leu210Ser) c.338T>C (p.Leu113Ser) c.242T>C (p.Leu81Ser) n.2189T>C n.1045T>C c.1319T>C (p.Leu440Ser) c.1373T>C (p.Leu458Ser) | gnomAD v4 |
5 | g.68295225T>G | CA359882903 | PIK3R1 | c.746T>G (p.Leu249Trp) c.836T>G (p.Leu279Trp) c.1646T>G (p.Leu549Trp) c.*616T>G (n.*616T>G) c.1571T>G (p.Leu524Trp) c.1121T>G (p.Leu374Trp) n.1287T>G c.*612T>G (n.*612T>G) c.683T>G (p.Leu228Trp) c.653T>G (p.Leu218Trp) c.557T>G (p.Leu186Trp) c.629T>G (p.Leu210Trp) c.338T>G (p.Leu113Trp) c.242T>G (p.Leu81Trp) n.2189T>G n.1045T>G c.1319T>G (p.Leu440Trp) c.1373T>G (p.Leu458Trp) | |
5 | g.68295226G>A | CA444672633 | PIK3R1 | c.747G>A (p.Leu249=) c.837G>A (p.Leu279=) c.1647G>A (p.Leu549=) c.*617G>A (n.*617G>A) c.1572G>A (p.Leu524=) c.1122G>A (p.Leu374=) n.1288G>A c.*613G>A (n.*613G>A) c.684G>A (p.Leu228=) c.654G>A (p.Leu218=) c.558G>A (p.Leu186=) c.630G>A (p.Leu210=) c.339G>A (p.Leu113=) c.243G>A (p.Leu81=) n.2190G>A n.1046G>A c.1320G>A (p.Leu440=) c.1374G>A (p.Leu458=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.68295226G>C | CA359882906 | PIK3R1 | c.747G>C (p.Leu249Phe) c.837G>C (p.Leu279Phe) c.1647G>C (p.Leu549Phe) c.*617G>C (n.*617G>C) c.1572G>C (p.Leu524Phe) c.1122G>C (p.Leu374Phe) n.1288G>C c.*613G>C (n.*613G>C) c.684G>C (p.Leu228Phe) c.654G>C (p.Leu218Phe) c.558G>C (p.Leu186Phe) c.630G>C (p.Leu210Phe) c.339G>C (p.Leu113Phe) c.243G>C (p.Leu81Phe) n.2190G>C n.1046G>C c.1320G>C (p.Leu440Phe) c.1374G>C (p.Leu458Phe) | dbSNP |
5 | g.68295226G= | CA1553406155 | PIK3R1 | c.747G= (p.Leu249=) c.837G= (p.Leu279=) c.1647G= (p.Leu549=) c.*617G= (n.*617G=) c.1572G= (p.Leu524=) c.1122G= (p.Leu374=) n.1288G= c.*613G= (n.*613G=) c.684G= (p.Leu228=) c.654G= (p.Leu218=) c.558G= (p.Leu186=) c.630G= (p.Leu210=) c.339G= (p.Leu113=) c.243G= (p.Leu81=) n.2190G= n.1046G= c.1320G= (p.Leu440=) c.1374G= (p.Leu458=) | |
5 | g.68295226G>T | CA359882908 | PIK3R1 | c.747G>T (p.Leu249Phe) c.837G>T (p.Leu279Phe) c.1647G>T (p.Leu549Phe) c.*617G>T (n.*617G>T) c.1572G>T (p.Leu524Phe) c.1122G>T (p.Leu374Phe) n.1288G>T c.*613G>T (n.*613G>T) c.684G>T (p.Leu228Phe) c.654G>T (p.Leu218Phe) c.558G>T (p.Leu186Phe) c.630G>T (p.Leu210Phe) c.339G>T (p.Leu113Phe) c.243G>T (p.Leu81Phe) n.2190G>T n.1046G>T c.1320G>T (p.Leu440Phe) c.1374G>T (p.Leu458Phe) | dbSNP |
5 | g.68295229_68295253del | CA2740091742 | PIK3R1 | c.750_774del (p.Lys251LeufsTer5) c.840_864del (p.Lys281LeufsTer5) c.1650_1674del (p.Lys551LeufsTer5) c.*620_*644del (n.*620_*644del) c.1575_1599del (p.Lys526LeufsTer5) c.1125_1149del (p.Lys376LeufsTer5) n.1291_1315del c.*616_*640del (n.*616_*640del) c.687_711del (p.Lys230LeufsTer5) c.657_681del (p.Lys220LeufsTer5) c.561_585del (p.Lys188LeufsTer5) c.633_657del (p.Lys212LeufsTer5) c.342_366del (p.Lys115LeufsTer5) c.246_270del (p.Lys83LeufsTer5) n.2193_2217del n.1049_1073del c.1323_1347del (p.Lys442LeufsTer5) c.1377_1401del (p.Lys460LeufsTer5) | ClinVar |
5 | g.68295227A>C | CA359882911 | PIK3R1 | c.748A>C (p.Lys250Gln) c.838A>C (p.Lys280Gln) c.1648A>C (p.Lys550Gln) c.*618A>C (n.*618A>C) c.1573A>C (p.Lys525Gln) c.1123A>C (p.Lys375Gln) n.1289A>C c.*614A>C (n.*614A>C) c.685A>C (p.Lys229Gln) c.655A>C (p.Lys219Gln) c.559A>C (p.Lys187Gln) c.631A>C (p.Lys211Gln) c.340A>C (p.Lys114Gln) c.244A>C (p.Lys82Gln) n.2191A>C n.1047A>C c.1321A>C (p.Lys441Gln) c.1375A>C (p.Lys459Gln) | |
5 | g.68295227A>G | CA359882913 | PIK3R1 | c.748A>G (p.Lys250Glu) c.838A>G (p.Lys280Glu) c.1648A>G (p.Lys550Glu) c.*618A>G (n.*618A>G) c.1573A>G (p.Lys525Glu) c.1123A>G (p.Lys375Glu) n.1289A>G c.*614A>G (n.*614A>G) c.685A>G (p.Lys229Glu) c.655A>G (p.Lys219Glu) c.559A>G (p.Lys187Glu) c.631A>G (p.Lys211Glu) c.340A>G (p.Lys114Glu) c.244A>G (p.Lys82Glu) n.2191A>G n.1047A>G c.1321A>G (p.Lys441Glu) c.1375A>G (p.Lys459Glu) | |
5 | g.68295227A>T | CA359882916 | PIK3R1 | c.748A>T (p.Lys250Ter) c.838A>T (p.Lys280Ter) c.1648A>T (p.Lys550Ter) c.*618A>T (n.*618A>T) c.1573A>T (p.Lys525Ter) c.1123A>T (p.Lys375Ter) n.1289A>T c.*614A>T (n.*614A>T) c.685A>T (p.Lys229Ter) c.655A>T (p.Lys219Ter) c.559A>T (p.Lys187Ter) c.631A>T (p.Lys211Ter) c.340A>T (p.Lys114Ter) c.244A>T (p.Lys82Ter) n.2191A>T n.1047A>T c.1321A>T (p.Lys441Ter) c.1375A>T (p.Lys459Ter) | |
5 | g.68295228A= | CA1553406156 | PIK3R1 | c.749A= (p.Lys250=) c.839A= (p.Lys280=) c.1649A= (p.Lys550=) c.*619A= (n.*619A=) c.1574A= (p.Lys525=) c.1124A= (p.Lys375=) n.1290A= c.*615A= (n.*615A=) c.686A= (p.Lys229=) c.656A= (p.Lys219=) c.560A= (p.Lys187=) c.632A= (p.Lys211=) c.341A= (p.Lys114=) c.245A= (p.Lys82=) n.2192A= n.1048A= c.1322A= (p.Lys441=) c.1376A= (p.Lys459=) | |
5 | g.68295228A>C | CA359882917 | PIK3R1 | c.749A>C (p.Lys250Thr) c.839A>C (p.Lys280Thr) c.1649A>C (p.Lys550Thr) c.*619A>C (n.*619A>C) c.1574A>C (p.Lys525Thr) c.1124A>C (p.Lys375Thr) n.1290A>C c.*615A>C (n.*615A>C) c.686A>C (p.Lys229Thr) c.656A>C (p.Lys219Thr) c.560A>C (p.Lys187Thr) c.632A>C (p.Lys211Thr) c.341A>C (p.Lys114Thr) c.245A>C (p.Lys82Thr) n.2192A>C n.1048A>C c.1322A>C (p.Lys441Thr) c.1376A>C (p.Lys459Thr) | |
5 | g.68295228A>G | CA359882919 | PIK3R1 | c.749A>G (p.Lys250Arg) c.839A>G (p.Lys280Arg) c.1649A>G (p.Lys550Arg) c.*619A>G (n.*619A>G) c.1574A>G (p.Lys525Arg) c.1124A>G (p.Lys375Arg) n.1290A>G c.*615A>G (n.*615A>G) c.686A>G (p.Lys229Arg) c.656A>G (p.Lys219Arg) c.560A>G (p.Lys187Arg) c.632A>G (p.Lys211Arg) c.341A>G (p.Lys114Arg) c.245A>G (p.Lys82Arg) n.2192A>G n.1048A>G c.1322A>G (p.Lys441Arg) c.1376A>G (p.Lys459Arg) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.68295228A>T | CA359882921 | PIK3R1 | c.749A>T (p.Lys250Met) c.839A>T (p.Lys280Met) c.1649A>T (p.Lys550Met) c.*619A>T (n.*619A>T) c.1574A>T (p.Lys525Met) c.1124A>T (p.Lys375Met) n.1290A>T c.*615A>T (n.*615A>T) c.686A>T (p.Lys229Met) c.656A>T (p.Lys219Met) c.560A>T (p.Lys187Met) c.632A>T (p.Lys211Met) c.341A>T (p.Lys114Met) c.245A>T (p.Lys82Met) n.2192A>T n.1048A>T c.1322A>T (p.Lys441Met) c.1376A>T (p.Lys459Met) | |
5 | g.68295229G>A | CA444672642 | PIK3R1 | c.750G>A (p.Lys250=) c.840G>A (p.Lys280=) c.1650G>A (p.Lys550=) c.*620G>A (n.*620G>A) c.1575G>A (p.Lys525=) c.1125G>A (p.Lys375=) n.1291G>A c.*616G>A (n.*616G>A) c.687G>A (p.Lys229=) c.657G>A (p.Lys219=) c.561G>A (p.Lys187=) c.633G>A (p.Lys211=) c.342G>A (p.Lys114=) c.246G>A (p.Lys82=) n.2193G>A n.1049G>A c.1323G>A (p.Lys441=) c.1377G>A (p.Lys459=) | |
5 | g.68295229G>C | CA359882926 | PIK3R1 | c.750G>C (p.Lys250Asn) c.840G>C (p.Lys280Asn) c.1650G>C (p.Lys550Asn) c.*620G>C (n.*620G>C) c.1575G>C (p.Lys525Asn) c.1125G>C (p.Lys375Asn) n.1291G>C c.*616G>C (n.*616G>C) c.687G>C (p.Lys229Asn) c.657G>C (p.Lys219Asn) c.561G>C (p.Lys187Asn) c.633G>C (p.Lys211Asn) c.342G>C (p.Lys114Asn) c.246G>C (p.Lys82Asn) n.2193G>C n.1049G>C c.1323G>C (p.Lys441Asn) c.1377G>C (p.Lys459Asn) | |
5 | g.68295229G>T | CA359882923 | PIK3R1 | c.750G>T (p.Lys250Asn) c.840G>T (p.Lys280Asn) c.1650G>T (p.Lys550Asn) c.*620G>T (n.*620G>T) c.1575G>T (p.Lys525Asn) c.1125G>T (p.Lys375Asn) n.1291G>T c.*616G>T (n.*616G>T) c.687G>T (p.Lys229Asn) c.657G>T (p.Lys219Asn) c.561G>T (p.Lys187Asn) c.633G>T (p.Lys211Asn) c.342G>T (p.Lys114Asn) c.246G>T (p.Lys82Asn) n.2193G>T n.1049G>T c.1323G>T (p.Lys441Asn) c.1377G>T (p.Lys459Asn) | |
5 | g.68295232_68295270dup | CA645556590 | PIK3R1 | c.753_791dup (p.Met263_Asn264insLysGlnAlaAlaGluTyrArgGluIleAspLysArgMet) c.843_881dup (p.Met293_Asn294insLysGlnAlaAlaGluTyrArgGluIleAspLysArgMet) c.1653_1691dup (p.Met563_Asn564insLysGlnAlaAlaGluTyrArgGluIleAspLysArgMet) c.*623_*661dup (n.*623_*661dup) c.1578_1616dup (p.Met538_Asn539insLysGlnAlaAlaGluTyrArgGluIleAspLysArgMet) c.1128_1166dup (p.Met388_Asn389insLysGlnAlaAlaGluTyrArgGluIleAspLysArgMet) n.1294_1332dup c.*619_*657dup (n.*619_*657dup) c.690_728dup (p.Met242_Asn243insLysGlnAlaAlaGluTyrArgGluIleAspLysArgMet) c.660_698dup (p.Met232_Asn233insLysGlnAlaAlaGluTyrArgGluIleAspLysArgMet) c.564_602dup (p.Met200_Asn201insLysGlnAlaAlaGluTyrArgGluIleAspLysArgMet) c.636_674dup (p.Met224_Asn225insLysGlnAlaAlaGluTyrArgGluIleAspLysArgMet) c.345_383dup (p.Met127_Asn128insLysGlnAlaAlaGluTyrArgGluIleAspLysArgMet) c.249_287dup (p.Met95_Asn96insLysGlnAlaAlaGluTyrArgGluIleAspLysArgMet) n.2196_2234dup n.1052_1090dup c.1326_1364dup (p.Met454_Asn455insLysGlnAlaAlaGluTyrArgGluIleAspLysArgMet) c.1380_1418dup (p.Met472_Asn473insLysGlnAlaAlaGluTyrArgGluIleAspLysArgMet) | COSMIC |
5 | g.68295230A>C | CA359882928 | PIK3R1 | c.751A>C (p.Lys251Gln) c.841A>C (p.Lys281Gln) c.1651A>C (p.Lys551Gln) c.*621A>C (n.*621A>C) c.1576A>C (p.Lys526Gln) c.1126A>C (p.Lys376Gln) n.1292A>C c.*617A>C (n.*617A>C) c.688A>C (p.Lys230Gln) c.658A>C (p.Lys220Gln) c.562A>C (p.Lys188Gln) c.634A>C (p.Lys212Gln) c.343A>C (p.Lys115Gln) c.247A>C (p.Lys83Gln) n.2194A>C n.1050A>C c.1324A>C (p.Lys442Gln) c.1378A>C (p.Lys460Gln) | |
5 | g.68295230A>G | CA359882932 | PIK3R1 | c.751A>G (p.Lys251Glu) c.841A>G (p.Lys281Glu) c.1651A>G (p.Lys551Glu) c.*621A>G (n.*621A>G) c.1576A>G (p.Lys526Glu) c.1126A>G (p.Lys376Glu) n.1292A>G c.*617A>G (n.*617A>G) c.688A>G (p.Lys230Glu) c.658A>G (p.Lys220Glu) c.562A>G (p.Lys188Glu) c.634A>G (p.Lys212Glu) c.343A>G (p.Lys115Glu) c.247A>G (p.Lys83Glu) n.2194A>G n.1050A>G c.1324A>G (p.Lys442Glu) c.1378A>G (p.Lys460Glu) | |
5 | g.68295230A>T | CA359882930 | PIK3R1 | c.751A>T (p.Lys251Ter) c.841A>T (p.Lys281Ter) c.1651A>T (p.Lys551Ter) c.*621A>T (n.*621A>T) c.1576A>T (p.Lys526Ter) c.1126A>T (p.Lys376Ter) n.1292A>T c.*617A>T (n.*617A>T) c.688A>T (p.Lys230Ter) c.658A>T (p.Lys220Ter) c.562A>T (p.Lys188Ter) c.634A>T (p.Lys212Ter) c.343A>T (p.Lys115Ter) c.247A>T (p.Lys83Ter) n.2194A>T n.1050A>T c.1324A>T (p.Lys442Ter) c.1378A>T (p.Lys460Ter) | |
5 | g.68295231A>C | CA359882936 | PIK3R1 | c.752A>C (p.Lys251Thr) c.842A>C (p.Lys281Thr) c.1652A>C (p.Lys551Thr) c.*622A>C (n.*622A>C) c.1577A>C (p.Lys526Thr) c.1127A>C (p.Lys376Thr) n.1293A>C c.*618A>C (n.*618A>C) c.689A>C (p.Lys230Thr) c.659A>C (p.Lys220Thr) c.563A>C (p.Lys188Thr) c.635A>C (p.Lys212Thr) c.344A>C (p.Lys115Thr) c.248A>C (p.Lys83Thr) n.2195A>C n.1051A>C c.1325A>C (p.Lys442Thr) c.1379A>C (p.Lys460Thr) | |
5 | g.68295231A>G | CA359882937 | PIK3R1 | c.752A>G (p.Lys251Arg) c.842A>G (p.Lys281Arg) c.1652A>G (p.Lys551Arg) c.*622A>G (n.*622A>G) c.1577A>G (p.Lys526Arg) c.1127A>G (p.Lys376Arg) n.1293A>G c.*618A>G (n.*618A>G) c.689A>G (p.Lys230Arg) c.659A>G (p.Lys220Arg) c.563A>G (p.Lys188Arg) c.635A>G (p.Lys212Arg) c.344A>G (p.Lys115Arg) c.248A>G (p.Lys83Arg) n.2195A>G n.1051A>G c.1325A>G (p.Lys442Arg) c.1379A>G (p.Lys460Arg) | |
5 | g.68295231A>T | CA359882939 | PIK3R1 | c.752A>T (p.Lys251Met) c.842A>T (p.Lys281Met) c.1652A>T (p.Lys551Met) c.*622A>T (n.*622A>T) c.1577A>T (p.Lys526Met) c.1127A>T (p.Lys376Met) n.1293A>T c.*618A>T (n.*618A>T) c.689A>T (p.Lys230Met) c.659A>T (p.Lys220Met) c.563A>T (p.Lys188Met) c.635A>T (p.Lys212Met) c.344A>T (p.Lys115Met) c.248A>T (p.Lys83Met) n.2195A>T n.1051A>T c.1325A>T (p.Lys442Met) c.1379A>T (p.Lys460Met) | dbSNP |
5 | g.68295232G>A | CA3290456 | PIK3R1 | c.753G>A (p.Lys251=) c.843G>A (p.Lys281=) c.1653G>A (p.Lys551=) c.*623G>A (n.*623G>A) c.1578G>A (p.Lys526=) c.1128G>A (p.Lys376=) n.1294G>A c.*619G>A (n.*619G>A) c.690G>A (p.Lys230=) c.660G>A (p.Lys220=) c.564G>A (p.Lys188=) c.636G>A (p.Lys212=) c.345G>A (p.Lys115=) c.249G>A (p.Lys83=) n.2196G>A n.1052G>A c.1326G>A (p.Lys442=) c.1380G>A (p.Lys460=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.68295232G>C | CA359882942 | PIK3R1 | c.753G>C (p.Lys251Asn) c.843G>C (p.Lys281Asn) c.1653G>C (p.Lys551Asn) c.*623G>C (n.*623G>C) c.1578G>C (p.Lys526Asn) c.1128G>C (p.Lys376Asn) n.1294G>C c.*619G>C (n.*619G>C) c.690G>C (p.Lys230Asn) c.660G>C (p.Lys220Asn) c.564G>C (p.Lys188Asn) c.636G>C (p.Lys212Asn) c.345G>C (p.Lys115Asn) c.249G>C (p.Lys83Asn) n.2196G>C n.1052G>C c.1326G>C (p.Lys442Asn) c.1380G>C (p.Lys460Asn) | |
5 | g.68295232G= | CA1553406157 | PIK3R1 | c.753G= (p.Lys251=) c.843G= (p.Lys281=) c.1653G= (p.Lys551=) c.*623G= (n.*623G=) c.1578G= (p.Lys526=) c.1128G= (p.Lys376=) n.1294G= c.*619G= (n.*619G=) c.690G= (p.Lys230=) c.660G= (p.Lys220=) c.564G= (p.Lys188=) c.636G= (p.Lys212=) c.345G= (p.Lys115=) c.249G= (p.Lys83=) n.2196G= n.1052G= c.1326G= (p.Lys442=) c.1380G= (p.Lys460=) | |
5 | g.68295232G>T | CA359882945 | PIK3R1 | c.753G>T (p.Lys251Asn) c.843G>T (p.Lys281Asn) c.1653G>T (p.Lys551Asn) c.*623G>T (n.*623G>T) c.1578G>T (p.Lys526Asn) c.1128G>T (p.Lys376Asn) n.1294G>T c.*619G>T (n.*619G>T) c.690G>T (p.Lys230Asn) c.660G>T (p.Lys220Asn) c.564G>T (p.Lys188Asn) c.636G>T (p.Lys212Asn) c.345G>T (p.Lys115Asn) c.249G>T (p.Lys83Asn) n.2196G>T n.1052G>T c.1326G>T (p.Lys442Asn) c.1380G>T (p.Lys460Asn) | dbSNP |
5 | g.68295233C>A | CA359882947 | PIK3R1 | c.754C>A (p.Gln252Lys) c.844C>A (p.Gln282Lys) c.1654C>A (p.Gln552Lys) c.*624C>A (n.*624C>A) c.1579C>A (p.Gln527Lys) c.1129C>A (p.Gln377Lys) n.1295C>A c.*620C>A (n.*620C>A) c.691C>A (p.Gln231Lys) c.661C>A (p.Gln221Lys) c.565C>A (p.Gln189Lys) c.637C>A (p.Gln213Lys) c.346C>A (p.Gln116Lys) c.250C>A (p.Gln84Lys) n.2197C>A n.1053C>A c.1327C>A (p.Gln443Lys) c.1381C>A (p.Gln461Lys) | dbSNP |
5 | g.68295233C>G | CA359882950 | PIK3R1 | c.754C>G (p.Gln252Glu) c.844C>G (p.Gln282Glu) c.1654C>G (p.Gln552Glu) c.*624C>G (n.*624C>G) c.1579C>G (p.Gln527Glu) c.1129C>G (p.Gln377Glu) n.1295C>G c.*620C>G (n.*620C>G) c.691C>G (p.Gln231Glu) c.661C>G (p.Gln221Glu) c.565C>G (p.Gln189Glu) c.637C>G (p.Gln213Glu) c.346C>G (p.Gln116Glu) c.250C>G (p.Gln84Glu) n.2197C>G n.1053C>G c.1327C>G (p.Gln443Glu) c.1381C>G (p.Gln461Glu) | dbSNP |
5 | g.68295233C>T | CA359882952 | PIK3R1 | c.754C>T (p.Gln252Ter) c.844C>T (p.Gln282Ter) c.1654C>T (p.Gln552Ter) c.*624C>T (n.*624C>T) c.1579C>T (p.Gln527Ter) c.1129C>T (p.Gln377Ter) n.1295C>T c.*620C>T (n.*620C>T) c.691C>T (p.Gln231Ter) c.661C>T (p.Gln221Ter) c.565C>T (p.Gln189Ter) c.637C>T (p.Gln213Ter) c.346C>T (p.Gln116Ter) c.250C>T (p.Gln84Ter) n.2197C>T n.1053C>T c.1327C>T (p.Gln443Ter) c.1381C>T (p.Gln461Ter) | dbSNP |
5 | g.68295234A= | CA1553406158 | PIK3R1 | c.755A= (p.Gln252=) c.845A= (p.Gln282=) c.1655A= (p.Gln552=) c.*625A= (n.*625A=) c.1580A= (p.Gln527=) c.1130A= (p.Gln377=) n.1296A= c.*621A= (n.*621A=) c.692A= (p.Gln231=) c.662A= (p.Gln221=) c.566A= (p.Gln189=) c.638A= (p.Gln213=) c.347A= (p.Gln116=) c.251A= (p.Gln84=) n.2198A= n.1054A= c.1328A= (p.Gln443=) c.1382A= (p.Gln461=) | |
5 | g.68295234A>C | CA359882953 | PIK3R1 | c.755A>C (p.Gln252Pro) c.845A>C (p.Gln282Pro) c.1655A>C (p.Gln552Pro) c.*625A>C (n.*625A>C) c.1580A>C (p.Gln527Pro) c.1130A>C (p.Gln377Pro) n.1296A>C c.*621A>C (n.*621A>C) c.692A>C (p.Gln231Pro) c.662A>C (p.Gln221Pro) c.566A>C (p.Gln189Pro) c.638A>C (p.Gln213Pro) c.347A>C (p.Gln116Pro) c.251A>C (p.Gln84Pro) n.2198A>C n.1054A>C c.1328A>C (p.Gln443Pro) c.1382A>C (p.Gln461Pro) | |
5 | g.68295234A>G | CA359882954 | PIK3R1 | c.755A>G (p.Gln252Arg) c.845A>G (p.Gln282Arg) c.1655A>G (p.Gln552Arg) c.*625A>G (n.*625A>G) c.1580A>G (p.Gln527Arg) c.1130A>G (p.Gln377Arg) n.1296A>G c.*621A>G (n.*621A>G) c.692A>G (p.Gln231Arg) c.662A>G (p.Gln221Arg) c.566A>G (p.Gln189Arg) c.638A>G (p.Gln213Arg) c.347A>G (p.Gln116Arg) c.251A>G (p.Gln84Arg) n.2198A>G n.1054A>G c.1328A>G (p.Gln443Arg) c.1382A>G (p.Gln461Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.68295234A>T | CA359882955 | PIK3R1 | c.755A>T (p.Gln252Leu) c.845A>T (p.Gln282Leu) c.1655A>T (p.Gln552Leu) c.*625A>T (n.*625A>T) c.1580A>T (p.Gln527Leu) c.1130A>T (p.Gln377Leu) n.1296A>T c.*621A>T (n.*621A>T) c.692A>T (p.Gln231Leu) c.662A>T (p.Gln221Leu) c.566A>T (p.Gln189Leu) c.638A>T (p.Gln213Leu) c.347A>T (p.Gln116Leu) c.251A>T (p.Gln84Leu) n.2198A>T n.1054A>T c.1328A>T (p.Gln443Leu) c.1382A>T (p.Gln461Leu) | dbSNP |
5 | g.68295235G>A | CA444672653 | PIK3R1 | c.756G>A (p.Gln252=) c.846G>A (p.Gln282=) c.1656G>A (p.Gln552=) c.*626G>A (n.*626G>A) c.1581G>A (p.Gln527=) c.1131G>A (p.Gln377=) n.1297G>A c.*622G>A (n.*622G>A) c.693G>A (p.Gln231=) c.663G>A (p.Gln221=) c.567G>A (p.Gln189=) c.639G>A (p.Gln213=) c.348G>A (p.Gln116=) c.252G>A (p.Gln84=) n.2199G>A n.1055G>A c.1329G>A (p.Gln443=) c.1383G>A (p.Gln461=) | dbSNP |
5 | g.68295235G>C | CA359882957 | PIK3R1 | c.756G>C (p.Gln252His) c.846G>C (p.Gln282His) c.1656G>C (p.Gln552His) c.*626G>C (n.*626G>C) c.1581G>C (p.Gln527His) c.1131G>C (p.Gln377His) n.1297G>C c.*622G>C (n.*622G>C) c.693G>C (p.Gln231His) c.663G>C (p.Gln221His) c.567G>C (p.Gln189His) c.639G>C (p.Gln213His) c.348G>C (p.Gln116His) c.252G>C (p.Gln84His) n.2199G>C n.1055G>C c.1329G>C (p.Gln443His) c.1383G>C (p.Gln461His) | dbSNP |
5 | g.68295235G= | CA1553406159 | PIK3R1 | c.756G= (p.Gln252=) c.846G= (p.Gln282=) c.1656G= (p.Gln552=) c.*626G= (n.*626G=) c.1581G= (p.Gln527=) c.1131G= (p.Gln377=) n.1297G= c.*622G= (n.*622G=) c.693G= (p.Gln231=) c.663G= (p.Gln221=) c.567G= (p.Gln189=) c.639G= (p.Gln213=) c.348G= (p.Gln116=) c.252G= (p.Gln84=) n.2199G= n.1055G= c.1329G= (p.Gln443=) c.1383G= (p.Gln461=) | |
5 | g.68295235G>T | CA359882956 | PIK3R1 | c.756G>T (p.Gln252His) c.846G>T (p.Gln282His) c.1656G>T (p.Gln552His) c.*626G>T (n.*626G>T) c.1581G>T (p.Gln527His) c.1131G>T (p.Gln377His) n.1297G>T c.*622G>T (n.*622G>T) c.693G>T (p.Gln231His) c.663G>T (p.Gln221His) c.567G>T (p.Gln189His) c.639G>T (p.Gln213His) c.348G>T (p.Gln116His) c.252G>T (p.Gln84His) n.2199G>T n.1055G>T c.1329G>T (p.Gln443His) c.1383G>T (p.Gln461His) | |
5 | g.68295236G>A | CA359882958 | PIK3R1 | c.757G>A (p.Ala253Thr) c.847G>A (p.Ala283Thr) c.1657G>A (p.Ala553Thr) c.*627G>A (n.*627G>A) c.1582G>A (p.Ala528Thr) c.1132G>A (p.Ala378Thr) n.1298G>A c.*623G>A (n.*623G>A) c.694G>A (p.Ala232Thr) c.664G>A (p.Ala222Thr) c.568G>A (p.Ala190Thr) c.640G>A (p.Ala214Thr) c.349G>A (p.Ala117Thr) c.253G>A (p.Ala85Thr) n.2200G>A n.1056G>A c.1330G>A (p.Ala444Thr) c.1384G>A (p.Ala462Thr) | dbSNP gnomAD v4 |
5 | g.68295236G>C | CA359882959 | PIK3R1 | c.757G>C (p.Ala253Pro) c.847G>C (p.Ala283Pro) c.1657G>C (p.Ala553Pro) c.*627G>C (n.*627G>C) c.1582G>C (p.Ala528Pro) c.1132G>C (p.Ala378Pro) n.1298G>C c.*623G>C (n.*623G>C) c.694G>C (p.Ala232Pro) c.664G>C (p.Ala222Pro) c.568G>C (p.Ala190Pro) c.640G>C (p.Ala214Pro) c.349G>C (p.Ala117Pro) c.253G>C (p.Ala85Pro) n.2200G>C n.1056G>C c.1330G>C (p.Ala444Pro) c.1384G>C (p.Ala462Pro) | dbSNP |
5 | g.68295236G>T | CA359882960 | PIK3R1 | c.757G>T (p.Ala253Ser) c.847G>T (p.Ala283Ser) c.1657G>T (p.Ala553Ser) c.*627G>T (n.*627G>T) c.1582G>T (p.Ala528Ser) c.1132G>T (p.Ala378Ser) n.1298G>T c.*623G>T (n.*623G>T) c.694G>T (p.Ala232Ser) c.664G>T (p.Ala222Ser) c.568G>T (p.Ala190Ser) c.640G>T (p.Ala214Ser) c.349G>T (p.Ala117Ser) c.253G>T (p.Ala85Ser) n.2200G>T n.1056G>T c.1330G>T (p.Ala444Ser) c.1384G>T (p.Ala462Ser) | |
5 | g.68295237C>A | CA359882961 | PIK3R1 | c.758C>A (p.Ala253Glu) c.848C>A (p.Ala283Glu) c.1658C>A (p.Ala553Glu) c.*628C>A (n.*628C>A) c.1583C>A (p.Ala528Glu) c.1133C>A (p.Ala378Glu) n.1299C>A c.*624C>A (n.*624C>A) c.695C>A (p.Ala232Glu) c.665C>A (p.Ala222Glu) c.569C>A (p.Ala190Glu) c.641C>A (p.Ala214Glu) c.350C>A (p.Ala117Glu) c.254C>A (p.Ala85Glu) n.2201C>A n.1057C>A c.1331C>A (p.Ala444Glu) c.1385C>A (p.Ala462Glu) | dbSNP |
5 | g.68295237C>G | CA359882962 | PIK3R1 | c.758C>G (p.Ala253Gly) c.848C>G (p.Ala283Gly) c.1658C>G (p.Ala553Gly) c.*628C>G (n.*628C>G) c.1583C>G (p.Ala528Gly) c.1133C>G (p.Ala378Gly) n.1299C>G c.*624C>G (n.*624C>G) c.695C>G (p.Ala232Gly) c.665C>G (p.Ala222Gly) c.569C>G (p.Ala190Gly) c.641C>G (p.Ala214Gly) c.350C>G (p.Ala117Gly) c.254C>G (p.Ala85Gly) n.2201C>G n.1057C>G c.1331C>G (p.Ala444Gly) c.1385C>G (p.Ala462Gly) | dbSNP |
5 | g.68295237C>T | CA359882963 | PIK3R1 | c.758C>T (p.Ala253Val) c.848C>T (p.Ala283Val) c.1658C>T (p.Ala553Val) c.*628C>T (n.*628C>T) c.1583C>T (p.Ala528Val) c.1133C>T (p.Ala378Val) n.1299C>T c.*624C>T (n.*624C>T) c.695C>T (p.Ala232Val) c.665C>T (p.Ala222Val) c.569C>T (p.Ala190Val) c.641C>T (p.Ala214Val) c.350C>T (p.Ala117Val) c.254C>T (p.Ala85Val) n.2201C>T n.1057C>T c.1331C>T (p.Ala444Val) c.1385C>T (p.Ala462Val) | dbSNP |
5 | g.68295238A>C | CA444672658 | PIK3R1 | c.759A>C (p.Ala253=) c.849A>C (p.Ala283=) c.1659A>C (p.Ala553=) c.*629A>C (n.*629A>C) c.1584A>C (p.Ala528=) c.1134A>C (p.Ala378=) n.1300A>C c.*625A>C (n.*625A>C) c.696A>C (p.Ala232=) c.666A>C (p.Ala222=) c.570A>C (p.Ala190=) c.642A>C (p.Ala214=) c.351A>C (p.Ala117=) c.255A>C (p.Ala85=) n.2202A>C n.1058A>C c.1332A>C (p.Ala444=) c.1386A>C (p.Ala462=) | |
5 | g.68295238A>G | CA444672660 | PIK3R1 | c.759A>G (p.Ala253=) c.849A>G (p.Ala283=) c.1659A>G (p.Ala553=) c.*629A>G (n.*629A>G) c.1584A>G (p.Ala528=) c.1134A>G (p.Ala378=) n.1300A>G c.*625A>G (n.*625A>G) c.696A>G (p.Ala232=) c.666A>G (p.Ala222=) c.570A>G (p.Ala190=) c.642A>G (p.Ala214=) c.351A>G (p.Ala117=) c.255A>G (p.Ala85=) n.2202A>G n.1058A>G c.1332A>G (p.Ala444=) c.1386A>G (p.Ala462=) | |
5 | g.68295238A>T | CA444672659 | PIK3R1 | c.759A>T (p.Ala253=) c.849A>T (p.Ala283=) c.1659A>T (p.Ala553=) c.*629A>T (n.*629A>T) c.1584A>T (p.Ala528=) c.1134A>T (p.Ala378=) n.1300A>T c.*625A>T (n.*625A>T) c.696A>T (p.Ala232=) c.666A>T (p.Ala222=) c.570A>T (p.Ala190=) c.642A>T (p.Ala214=) c.351A>T (p.Ala117=) c.255A>T (p.Ala85=) n.2202A>T n.1058A>T c.1332A>T (p.Ala444=) c.1386A>T (p.Ala462=) | dbSNP |
5 | g.68295239G>A | CA359882964 | PIK3R1 | c.760G>A (p.Ala254Thr) c.850G>A (p.Ala284Thr) c.1660G>A (p.Ala554Thr) c.*630G>A (n.*630G>A) c.1585G>A (p.Ala529Thr) c.1135G>A (p.Ala379Thr) n.1301G>A c.*626G>A (n.*626G>A) c.697G>A (p.Ala233Thr) c.667G>A (p.Ala223Thr) c.571G>A (p.Ala191Thr) c.643G>A (p.Ala215Thr) c.352G>A (p.Ala118Thr) c.256G>A (p.Ala86Thr) n.2203G>A n.1059G>A c.1333G>A (p.Ala445Thr) c.1387G>A (p.Ala463Thr) | dbSNP gnomAD v4 |
5 | g.68295239G>C | CA359882965 | PIK3R1 | c.760G>C (p.Ala254Pro) c.850G>C (p.Ala284Pro) c.1660G>C (p.Ala554Pro) c.*630G>C (n.*630G>C) c.1585G>C (p.Ala529Pro) c.1135G>C (p.Ala379Pro) n.1301G>C c.*626G>C (n.*626G>C) c.697G>C (p.Ala233Pro) c.667G>C (p.Ala223Pro) c.571G>C (p.Ala191Pro) c.643G>C (p.Ala215Pro) c.352G>C (p.Ala118Pro) c.256G>C (p.Ala86Pro) n.2203G>C n.1059G>C c.1333G>C (p.Ala445Pro) c.1387G>C (p.Ala463Pro) | dbSNP |
5 | g.68295239G>T | CA359882966 | PIK3R1 | c.760G>T (p.Ala254Ser) c.850G>T (p.Ala284Ser) c.1660G>T (p.Ala554Ser) c.*630G>T (n.*630G>T) c.1585G>T (p.Ala529Ser) c.1135G>T (p.Ala379Ser) n.1301G>T c.*626G>T (n.*626G>T) c.697G>T (p.Ala233Ser) c.667G>T (p.Ala223Ser) c.571G>T (p.Ala191Ser) c.643G>T (p.Ala215Ser) c.352G>T (p.Ala118Ser) c.256G>T (p.Ala86Ser) n.2203G>T n.1059G>T c.1333G>T (p.Ala445Ser) c.1387G>T (p.Ala463Ser) | gnomAD v4 |
5 | g.68295240C>A | CA359882967 | PIK3R1 | c.761C>A (p.Ala254Asp) c.851C>A (p.Ala284Asp) c.1661C>A (p.Ala554Asp) c.*631C>A (n.*631C>A) c.1586C>A (p.Ala529Asp) c.1136C>A (p.Ala379Asp) n.1302C>A c.*627C>A (n.*627C>A) c.698C>A (p.Ala233Asp) c.668C>A (p.Ala223Asp) c.572C>A (p.Ala191Asp) c.644C>A (p.Ala215Asp) c.353C>A (p.Ala118Asp) c.257C>A (p.Ala86Asp) n.2204C>A n.1060C>A c.1334C>A (p.Ala445Asp) c.1388C>A (p.Ala463Asp) | dbSNP |
5 | g.68295240C>G | CA359882968 | PIK3R1 | c.761C>G (p.Ala254Gly) c.851C>G (p.Ala284Gly) c.1661C>G (p.Ala554Gly) c.*631C>G (n.*631C>G) c.1586C>G (p.Ala529Gly) c.1136C>G (p.Ala379Gly) n.1302C>G c.*627C>G (n.*627C>G) c.698C>G (p.Ala233Gly) c.668C>G (p.Ala223Gly) c.572C>G (p.Ala191Gly) c.644C>G (p.Ala215Gly) c.353C>G (p.Ala118Gly) c.257C>G (p.Ala86Gly) n.2204C>G n.1060C>G c.1334C>G (p.Ala445Gly) c.1388C>G (p.Ala463Gly) | dbSNP |
5 | g.68295240C>T | CA359882969 | PIK3R1 | c.761C>T (p.Ala254Val) c.851C>T (p.Ala284Val) c.1661C>T (p.Ala554Val) c.*631C>T (n.*631C>T) c.1586C>T (p.Ala529Val) c.1136C>T (p.Ala379Val) n.1302C>T c.*627C>T (n.*627C>T) c.698C>T (p.Ala233Val) c.668C>T (p.Ala223Val) c.572C>T (p.Ala191Val) c.644C>T (p.Ala215Val) c.353C>T (p.Ala118Val) c.257C>T (p.Ala86Val) n.2204C>T n.1060C>T c.1334C>T (p.Ala445Val) c.1388C>T (p.Ala463Val) | dbSNP |
5 | g.68295241T>A | CA444672666 | PIK3R1 | c.762T>A (p.Ala254=) c.852T>A (p.Ala284=) c.1662T>A (p.Ala554=) c.*632T>A (n.*632T>A) c.1587T>A (p.Ala529=) c.1137T>A (p.Ala379=) n.1303T>A c.*628T>A (n.*628T>A) c.699T>A (p.Ala233=) c.669T>A (p.Ala223=) c.573T>A (p.Ala191=) c.645T>A (p.Ala215=) c.354T>A (p.Ala118=) c.258T>A (p.Ala86=) n.2205T>A n.1061T>A c.1335T>A (p.Ala445=) c.1389T>A (p.Ala463=) | dbSNP |
5 | g.68295241T>C | CA444672667 | PIK3R1 | c.762T>C (p.Ala254=) c.852T>C (p.Ala284=) c.1662T>C (p.Ala554=) c.*632T>C (n.*632T>C) c.1587T>C (p.Ala529=) c.1137T>C (p.Ala379=) n.1303T>C c.*628T>C (n.*628T>C) c.699T>C (p.Ala233=) c.669T>C (p.Ala223=) c.573T>C (p.Ala191=) c.645T>C (p.Ala215=) c.354T>C (p.Ala118=) c.258T>C (p.Ala86=) n.2205T>C n.1061T>C c.1335T>C (p.Ala445=) c.1389T>C (p.Ala463=) | dbSNP |
5 | g.68295241T>G | CA444672669 | PIK3R1 | c.762T>G (p.Ala254=) c.852T>G (p.Ala284=) c.1662T>G (p.Ala554=) c.*632T>G (n.*632T>G) c.1587T>G (p.Ala529=) c.1137T>G (p.Ala379=) n.1303T>G c.*628T>G (n.*628T>G) c.699T>G (p.Ala233=) c.669T>G (p.Ala223=) c.573T>G (p.Ala191=) c.645T>G (p.Ala215=) c.354T>G (p.Ala118=) c.258T>G (p.Ala86=) n.2205T>G n.1061T>G c.1335T>G (p.Ala445=) c.1389T>G (p.Ala463=) | |
5 | g.68295242G>A | CA359882972 | PIK3R1 | c.763G>A (p.Glu255Lys) c.853G>A (p.Glu285Lys) c.1663G>A (p.Glu555Lys) c.*633G>A (n.*633G>A) c.1588G>A (p.Glu530Lys) c.1138G>A (p.Glu380Lys) n.1304G>A c.*629G>A (n.*629G>A) c.700G>A (p.Glu234Lys) c.670G>A (p.Glu224Lys) c.574G>A (p.Glu192Lys) c.646G>A (p.Glu216Lys) c.355G>A (p.Glu119Lys) c.259G>A (p.Glu87Lys) n.2206G>A n.1062G>A c.1336G>A (p.Glu446Lys) c.1390G>A (p.Glu464Lys) | dbSNP |
5 | g.68295242G>C | CA359882971 | PIK3R1 | c.763G>C (p.Glu255Gln) c.853G>C (p.Glu285Gln) c.1663G>C (p.Glu555Gln) c.*633G>C (n.*633G>C) c.1588G>C (p.Glu530Gln) c.1138G>C (p.Glu380Gln) n.1304G>C c.*629G>C (n.*629G>C) c.700G>C (p.Glu234Gln) c.670G>C (p.Glu224Gln) c.574G>C (p.Glu192Gln) c.646G>C (p.Glu216Gln) c.355G>C (p.Glu119Gln) c.259G>C (p.Glu87Gln) n.2206G>C n.1062G>C c.1336G>C (p.Glu446Gln) c.1390G>C (p.Glu464Gln) | dbSNP |
5 | g.68295242G>T | CA359882970 | PIK3R1 | c.763G>T (p.Glu255Ter) c.853G>T (p.Glu285Ter) c.1663G>T (p.Glu555Ter) c.*633G>T (n.*633G>T) c.1588G>T (p.Glu530Ter) c.1138G>T (p.Glu380Ter) n.1304G>T c.*629G>T (n.*629G>T) c.700G>T (p.Glu234Ter) c.670G>T (p.Glu224Ter) c.574G>T (p.Glu192Ter) c.646G>T (p.Glu216Ter) c.355G>T (p.Glu119Ter) c.259G>T (p.Glu87Ter) n.2206G>T n.1062G>T c.1336G>T (p.Glu446Ter) c.1390G>T (p.Glu464Ter) | |
5 | g.68295243A>C | CA359882973 | PIK3R1 | c.764A>C (p.Glu255Ala) c.854A>C (p.Glu285Ala) c.1664A>C (p.Glu555Ala) c.*634A>C (n.*634A>C) c.1589A>C (p.Glu530Ala) c.1139A>C (p.Glu380Ala) n.1305A>C c.*630A>C (n.*630A>C) c.701A>C (p.Glu234Ala) c.671A>C (p.Glu224Ala) c.575A>C (p.Glu192Ala) c.647A>C (p.Glu216Ala) c.356A>C (p.Glu119Ala) c.260A>C (p.Glu87Ala) n.2207A>C n.1063A>C c.1337A>C (p.Glu446Ala) c.1391A>C (p.Glu464Ala) | |
5 | g.68295243A>G | CA359882974 | PIK3R1 | c.764A>G (p.Glu255Gly) c.854A>G (p.Glu285Gly) c.1664A>G (p.Glu555Gly) c.*634A>G (n.*634A>G) c.1589A>G (p.Glu530Gly) c.1139A>G (p.Glu380Gly) n.1305A>G c.*630A>G (n.*630A>G) c.701A>G (p.Glu234Gly) c.671A>G (p.Glu224Gly) c.575A>G (p.Glu192Gly) c.647A>G (p.Glu216Gly) c.356A>G (p.Glu119Gly) c.260A>G (p.Glu87Gly) n.2207A>G n.1063A>G c.1337A>G (p.Glu446Gly) c.1391A>G (p.Glu464Gly) | gnomAD v4 |
5 | g.68295243A>T | CA359882975 | PIK3R1 | c.764A>T (p.Glu255Val) c.854A>T (p.Glu285Val) c.1664A>T (p.Glu555Val) c.*634A>T (n.*634A>T) c.1589A>T (p.Glu530Val) c.1139A>T (p.Glu380Val) n.1305A>T c.*630A>T (n.*630A>T) c.701A>T (p.Glu234Val) c.671A>T (p.Glu224Val) c.575A>T (p.Glu192Val) c.647A>T (p.Glu216Val) c.356A>T (p.Glu119Val) c.260A>T (p.Glu87Val) n.2207A>T n.1063A>T c.1337A>T (p.Glu446Val) c.1391A>T (p.Glu464Val) | dbSNP |
5 | g.68295244G>A | CA444672674 | PIK3R1 | c.765G>A (p.Glu255=) c.855G>A (p.Glu285=) c.1665G>A (p.Glu555=) c.*635G>A (n.*635G>A) c.1590G>A (p.Glu530=) c.1140G>A (p.Glu380=) n.1306G>A c.*631G>A (n.*631G>A) c.702G>A (p.Glu234=) c.672G>A (p.Glu224=) c.576G>A (p.Glu192=) c.648G>A (p.Glu216=) c.357G>A (p.Glu119=) c.261G>A (p.Glu87=) n.2208G>A n.1064G>A c.1338G>A (p.Glu446=) c.1392G>A (p.Glu464=) | ClinVar dbSNP gnomAD v4 |
5 | g.68295244G>C | CA3290457 | PIK3R1 | c.765G>C (p.Glu255Asp) c.855G>C (p.Glu285Asp) c.1665G>C (p.Glu555Asp) c.*635G>C (n.*635G>C) c.1590G>C (p.Glu530Asp) c.1140G>C (p.Glu380Asp) n.1306G>C c.*631G>C (n.*631G>C) c.702G>C (p.Glu234Asp) c.672G>C (p.Glu224Asp) c.576G>C (p.Glu192Asp) c.648G>C (p.Glu216Asp) c.357G>C (p.Glu119Asp) c.261G>C (p.Glu87Asp) n.2208G>C n.1064G>C c.1338G>C (p.Glu446Asp) c.1392G>C (p.Glu464Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.68295244G= | CA1553406160 | PIK3R1 | c.765G= (p.Glu255=) c.855G= (p.Glu285=) c.1665G= (p.Glu555=) c.*635G= (n.*635G=) c.1590G= (p.Glu530=) c.1140G= (p.Glu380=) n.1306G= c.*631G= (n.*631G=) c.702G= (p.Glu234=) c.672G= (p.Glu224=) c.576G= (p.Glu192=) c.648G= (p.Glu216=) c.357G= (p.Glu119=) c.261G= (p.Glu87=) n.2208G= n.1064G= c.1338G= (p.Glu446=) c.1392G= (p.Glu464=) | |
5 | g.68295244G>T | CA359882976 | PIK3R1 | c.765G>T (p.Glu255Asp) c.855G>T (p.Glu285Asp) c.1665G>T (p.Glu555Asp) c.*635G>T (n.*635G>T) c.1590G>T (p.Glu530Asp) c.1140G>T (p.Glu380Asp) n.1306G>T c.*631G>T (n.*631G>T) c.702G>T (p.Glu234Asp) c.672G>T (p.Glu224Asp) c.576G>T (p.Glu192Asp) c.648G>T (p.Glu216Asp) c.357G>T (p.Glu119Asp) c.261G>T (p.Glu87Asp) n.2208G>T n.1064G>T c.1338G>T (p.Glu446Asp) c.1392G>T (p.Glu464Asp) | |
5 | g.68295245T>A | CA359882977 | PIK3R1 | c.766T>A (p.Tyr256Asn) c.856T>A (p.Tyr286Asn) c.1666T>A (p.Tyr556Asn) c.*636T>A (n.*636T>A) c.1591T>A (p.Tyr531Asn) c.1141T>A (p.Tyr381Asn) n.1307T>A c.*632T>A (n.*632T>A) c.703T>A (p.Tyr235Asn) c.673T>A (p.Tyr225Asn) c.577T>A (p.Tyr193Asn) c.649T>A (p.Tyr217Asn) c.358T>A (p.Tyr120Asn) c.262T>A (p.Tyr88Asn) n.2209T>A n.1065T>A c.1339T>A (p.Tyr447Asn) c.1393T>A (p.Tyr465Asn) | dbSNP |
5 | g.68295245T>C | CA359882979 | PIK3R1 | c.766T>C (p.Tyr256His) c.856T>C (p.Tyr286His) c.1666T>C (p.Tyr556His) c.*636T>C (n.*636T>C) c.1591T>C (p.Tyr531His) c.1141T>C (p.Tyr381His) n.1307T>C c.*632T>C (n.*632T>C) c.703T>C (p.Tyr235His) c.673T>C (p.Tyr225His) c.577T>C (p.Tyr193His) c.649T>C (p.Tyr217His) c.358T>C (p.Tyr120His) c.262T>C (p.Tyr88His) n.2209T>C n.1065T>C c.1339T>C (p.Tyr447His) c.1393T>C (p.Tyr465His) | gnomAD v4 |
5 | g.68295245T>G | CA359882981 | PIK3R1 | c.766T>G (p.Tyr256Asp) c.856T>G (p.Tyr286Asp) c.1666T>G (p.Tyr556Asp) c.*636T>G (n.*636T>G) c.1591T>G (p.Tyr531Asp) c.1141T>G (p.Tyr381Asp) n.1307T>G c.*632T>G (n.*632T>G) c.703T>G (p.Tyr235Asp) c.673T>G (p.Tyr225Asp) c.577T>G (p.Tyr193Asp) c.649T>G (p.Tyr217Asp) c.358T>G (p.Tyr120Asp) c.262T>G (p.Tyr88Asp) n.2209T>G n.1065T>G c.1339T>G (p.Tyr447Asp) c.1393T>G (p.Tyr465Asp) | dbSNP |
5 | g.68295246A= | CA1553406161 | PIK3R1 | c.767A= (p.Tyr256=) c.857A= (p.Tyr286=) c.1667A= (p.Tyr556=) c.*637A= (n.*637A=) c.1592A= (p.Tyr531=) c.1142A= (p.Tyr381=) n.1308A= c.*633A= (n.*633A=) c.704A= (p.Tyr235=) c.674A= (p.Tyr225=) c.578A= (p.Tyr193=) c.650A= (p.Tyr217=) c.359A= (p.Tyr120=) c.263A= (p.Tyr88=) n.2210A= n.1066A= c.1340A= (p.Tyr447=) c.1394A= (p.Tyr465=) | |
5 | g.68295246A>C | CA359882982 | PIK3R1 | c.767A>C (p.Tyr256Ser) c.857A>C (p.Tyr286Ser) c.1667A>C (p.Tyr556Ser) c.*637A>C (n.*637A>C) c.1592A>C (p.Tyr531Ser) c.1142A>C (p.Tyr381Ser) n.1308A>C c.*633A>C (n.*633A>C) c.704A>C (p.Tyr235Ser) c.674A>C (p.Tyr225Ser) c.578A>C (p.Tyr193Ser) c.650A>C (p.Tyr217Ser) c.359A>C (p.Tyr120Ser) c.263A>C (p.Tyr88Ser) n.2210A>C n.1066A>C c.1340A>C (p.Tyr447Ser) c.1394A>C (p.Tyr465Ser) | |
5 | g.68295246A>G | CA359882983 | PIK3R1 | c.767A>G (p.Tyr256Cys) c.857A>G (p.Tyr286Cys) c.1667A>G (p.Tyr556Cys) c.*637A>G (n.*637A>G) c.1592A>G (p.Tyr531Cys) c.1142A>G (p.Tyr381Cys) n.1308A>G c.*633A>G (n.*633A>G) c.704A>G (p.Tyr235Cys) c.674A>G (p.Tyr225Cys) c.578A>G (p.Tyr193Cys) c.650A>G (p.Tyr217Cys) c.359A>G (p.Tyr120Cys) c.263A>G (p.Tyr88Cys) n.2210A>G n.1066A>G c.1340A>G (p.Tyr447Cys) c.1394A>G (p.Tyr465Cys) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.68295246A>T | CA359882984 | PIK3R1 | c.767A>T (p.Tyr256Phe) c.857A>T (p.Tyr286Phe) c.1667A>T (p.Tyr556Phe) c.*637A>T (n.*637A>T) c.1592A>T (p.Tyr531Phe) c.1142A>T (p.Tyr381Phe) n.1308A>T c.*633A>T (n.*633A>T) c.704A>T (p.Tyr235Phe) c.674A>T (p.Tyr225Phe) c.578A>T (p.Tyr193Phe) c.650A>T (p.Tyr217Phe) c.359A>T (p.Tyr120Phe) c.263A>T (p.Tyr88Phe) n.2210A>T n.1066A>T c.1340A>T (p.Tyr447Phe) c.1394A>T (p.Tyr465Phe) | |
5 | g.68295246_68295254del | CA645556591 | PIK3R1 | c.767_775del (p.Tyr256_Ile259delinsPhe) c.857_865del (p.Tyr286_Ile289delinsPhe) c.1667_1675del (p.Tyr556_Ile559delinsPhe) c.*637_*645del (n.*637_*645del) c.1592_1600del (p.Tyr531_Ile534delinsPhe) c.1142_1150del (p.Tyr381_Ile384delinsPhe) n.1308_1316del c.*633_*641del (n.*633_*641del) c.704_712del (p.Tyr235_Ile238delinsPhe) c.674_682del (p.Tyr225_Ile228delinsPhe) c.578_586del (p.Tyr193_Ile196delinsPhe) c.650_658del (p.Tyr217_Ile220delinsPhe) c.359_367del (p.Tyr120_Ile123delinsPhe) c.263_271del (p.Tyr88_Ile91delinsPhe) n.2210_2218del n.1066_1074del c.1340_1348del (p.Tyr447_Ile450delinsPhe) c.1394_1402del (p.Tyr465_Ile468delinsPhe) | COSMIC COSMIC COSMIC |
5 | g.68295247T>A | CA359882985 | PIK3R1 | c.768T>A (p.Tyr256Ter) c.858T>A (p.Tyr286Ter) c.1668T>A (p.Tyr556Ter) c.*638T>A (n.*638T>A) c.1593T>A (p.Tyr531Ter) c.1143T>A (p.Tyr381Ter) n.1309T>A c.*634T>A (n.*634T>A) c.705T>A (p.Tyr235Ter) c.675T>A (p.Tyr225Ter) c.579T>A (p.Tyr193Ter) c.651T>A (p.Tyr217Ter) c.360T>A (p.Tyr120Ter) c.264T>A (p.Tyr88Ter) n.2211T>A n.1067T>A c.1341T>A (p.Tyr447Ter) c.1395T>A (p.Tyr465Ter) | dbSNP |
5 | g.68295247T>C | CA444672680 | PIK3R1 | c.768T>C (p.Tyr256=) c.858T>C (p.Tyr286=) c.1668T>C (p.Tyr556=) c.*638T>C (n.*638T>C) c.1593T>C (p.Tyr531=) c.1143T>C (p.Tyr381=) n.1309T>C c.*634T>C (n.*634T>C) c.705T>C (p.Tyr235=) c.675T>C (p.Tyr225=) c.579T>C (p.Tyr193=) c.651T>C (p.Tyr217=) c.360T>C (p.Tyr120=) c.264T>C (p.Tyr88=) n.2211T>C n.1067T>C c.1341T>C (p.Tyr447=) c.1395T>C (p.Tyr465=) | |
5 | g.68295247T>G | CA359882986 | PIK3R1 | c.768T>G (p.Tyr256Ter) c.858T>G (p.Tyr286Ter) c.1668T>G (p.Tyr556Ter) c.*638T>G (n.*638T>G) c.1593T>G (p.Tyr531Ter) c.1143T>G (p.Tyr381Ter) n.1309T>G c.*634T>G (n.*634T>G) c.705T>G (p.Tyr235Ter) c.675T>G (p.Tyr225Ter) c.579T>G (p.Tyr193Ter) c.651T>G (p.Tyr217Ter) c.360T>G (p.Tyr120Ter) c.264T>G (p.Tyr88Ter) n.2211T>G n.1067T>G c.1341T>G (p.Tyr447Ter) c.1395T>G (p.Tyr465Ter) | dbSNP |
5 | g.68295248C>A | CA444672683 | PIK3R1 | c.769C>A (p.Arg257=) c.859C>A (p.Arg287=) c.1669C>A (p.Arg557=) c.*639C>A (n.*639C>A) c.1594C>A (p.Arg532=) c.1144C>A (p.Arg382=) n.1310C>A c.*635C>A (n.*635C>A) c.706C>A (p.Arg236=) c.676C>A (p.Arg226=) c.580C>A (p.Arg194=) c.652C>A (p.Arg218=) c.361C>A (p.Arg121=) c.265C>A (p.Arg89=) n.2212C>A n.1068C>A c.1342C>A (p.Arg448=) c.1396C>A (p.Arg466=) | dbSNP |
5 | g.68295248C>G | CA359882988 | PIK3R1 | c.769C>G (p.Arg257Gly) c.859C>G (p.Arg287Gly) c.1669C>G (p.Arg557Gly) c.*639C>G (n.*639C>G) c.1594C>G (p.Arg532Gly) c.1144C>G (p.Arg382Gly) n.1310C>G c.*635C>G (n.*635C>G) c.706C>G (p.Arg236Gly) c.676C>G (p.Arg226Gly) c.580C>G (p.Arg194Gly) c.652C>G (p.Arg218Gly) c.361C>G (p.Arg121Gly) c.265C>G (p.Arg89Gly) n.2212C>G n.1068C>G c.1342C>G (p.Arg448Gly) c.1396C>G (p.Arg466Gly) | dbSNP |
5 | g.68295248C>T | CA359882987 | PIK3R1 | c.769C>T (p.Arg257Ter) c.859C>T (p.Arg287Ter) c.1669C>T (p.Arg557Ter) c.*639C>T (n.*639C>T) c.1594C>T (p.Arg532Ter) c.1144C>T (p.Arg382Ter) n.1310C>T c.*635C>T (n.*635C>T) c.706C>T (p.Arg236Ter) c.676C>T (p.Arg226Ter) c.580C>T (p.Arg194Ter) c.652C>T (p.Arg218Ter) c.361C>T (p.Arg121Ter) c.265C>T (p.Arg89Ter) n.2212C>T n.1068C>T c.1342C>T (p.Arg448Ter) c.1396C>T (p.Arg466Ter) | dbSNP COSMIC COSMIC COSMIC |
5 | g.68295249G>A | CA359882989 | PIK3R1 | c.770G>A (p.Arg257Gln) c.860G>A (p.Arg287Gln) c.1670G>A (p.Arg557Gln) c.*640G>A (n.*640G>A) c.1595G>A (p.Arg532Gln) c.1145G>A (p.Arg382Gln) n.1311G>A c.*636G>A (n.*636G>A) c.707G>A (p.Arg236Gln) c.677G>A (p.Arg226Gln) c.581G>A (p.Arg194Gln) c.653G>A (p.Arg218Gln) c.362G>A (p.Arg121Gln) c.266G>A (p.Arg89Gln) n.2213G>A n.1069G>A c.1343G>A (p.Arg448Gln) c.1397G>A (p.Arg466Gln) | ClinVar dbSNP COSMIC COSMIC COSMIC |
5 | g.68295249G>C | CA359882990 | PIK3R1 | c.770G>C (p.Arg257Pro) c.860G>C (p.Arg287Pro) c.1670G>C (p.Arg557Pro) c.*640G>C (n.*640G>C) c.1595G>C (p.Arg532Pro) c.1145G>C (p.Arg382Pro) n.1311G>C c.*636G>C (n.*636G>C) c.707G>C (p.Arg236Pro) c.677G>C (p.Arg226Pro) c.581G>C (p.Arg194Pro) c.653G>C (p.Arg218Pro) c.362G>C (p.Arg121Pro) c.266G>C (p.Arg89Pro) n.2213G>C n.1069G>C c.1343G>C (p.Arg448Pro) c.1397G>C (p.Arg466Pro) | dbSNP |
5 | g.68295249G>T | CA359882991 | PIK3R1 | c.770G>T (p.Arg257Leu) c.860G>T (p.Arg287Leu) c.1670G>T (p.Arg557Leu) c.*640G>T (n.*640G>T) c.1595G>T (p.Arg532Leu) c.1145G>T (p.Arg382Leu) n.1311G>T c.*636G>T (n.*636G>T) c.707G>T (p.Arg236Leu) c.677G>T (p.Arg226Leu) c.581G>T (p.Arg194Leu) c.653G>T (p.Arg218Leu) c.362G>T (p.Arg121Leu) c.266G>T (p.Arg89Leu) n.2213G>T n.1069G>T c.1343G>T (p.Arg448Leu) c.1397G>T (p.Arg466Leu) | dbSNP |
5 | g.68295250A>C | CA444672687 | PIK3R1 | c.771A>C (p.Arg257=) c.861A>C (p.Arg287=) c.1671A>C (p.Arg557=) c.*641A>C (n.*641A>C) c.1596A>C (p.Arg532=) c.1146A>C (p.Arg382=) n.1312A>C c.*637A>C (n.*637A>C) c.708A>C (p.Arg236=) c.678A>C (p.Arg226=) c.582A>C (p.Arg194=) c.654A>C (p.Arg218=) c.363A>C (p.Arg121=) c.267A>C (p.Arg89=) n.2214A>C n.1070A>C c.1344A>C (p.Arg448=) c.1398A>C (p.Arg466=) | |
5 | g.68295250A>G | CA444672690 | PIK3R1 | c.771A>G (p.Arg257=) c.861A>G (p.Arg287=) c.1671A>G (p.Arg557=) c.*641A>G (n.*641A>G) c.1596A>G (p.Arg532=) c.1146A>G (p.Arg382=) n.1312A>G c.*637A>G (n.*637A>G) c.708A>G (p.Arg236=) c.678A>G (p.Arg226=) c.582A>G (p.Arg194=) c.654A>G (p.Arg218=) c.363A>G (p.Arg121=) c.267A>G (p.Arg89=) n.2214A>G n.1070A>G c.1344A>G (p.Arg448=) c.1398A>G (p.Arg466=) | |
5 | g.68295250A>T | CA444672689 | PIK3R1 | c.771A>T (p.Arg257=) c.861A>T (p.Arg287=) c.1671A>T (p.Arg557=) c.*641A>T (n.*641A>T) c.1596A>T (p.Arg532=) c.1146A>T (p.Arg382=) n.1312A>T c.*637A>T (n.*637A>T) c.708A>T (p.Arg236=) c.678A>T (p.Arg226=) c.582A>T (p.Arg194=) c.654A>T (p.Arg218=) c.363A>T (p.Arg121=) c.267A>T (p.Arg89=) n.2214A>T n.1070A>T c.1344A>T (p.Arg448=) c.1398A>T (p.Arg466=) | dbSNP |
5 | g.68295251_68295262del | CA645556592 | PIK3R1 | c.772_783del (p.Glu258_Lys261del) c.862_873del (p.Glu288_Lys291del) c.1672_1683del (p.Glu558_Lys561del) c.*642_*653del (n.*642_*653del) c.1597_1608del (p.Glu533_Lys536del) c.1147_1158del (p.Glu383_Lys386del) n.1313_1324del c.*638_*649del (n.*638_*649del) c.709_720del (p.Glu237_Lys240del) c.679_690del (p.Glu227_Lys230del) c.583_594del (p.Glu195_Lys198del) c.655_666del (p.Glu219_Lys222del) c.364_375del (p.Glu122_Lys125del) c.268_279del (p.Glu90_Lys93del) n.2215_2226del n.1071_1082del c.1345_1356del (p.Glu449_Lys452del) c.1399_1410del (p.Glu467_Lys470del) | COSMIC COSMIC COSMIC |
5 | g.68295251G>A | CA359882992 | PIK3R1 | c.772G>A (p.Glu258Lys) c.862G>A (p.Glu288Lys) c.1672G>A (p.Glu558Lys) c.*642G>A (n.*642G>A) c.1597G>A (p.Glu533Lys) c.1147G>A (p.Glu383Lys) n.1313G>A c.*638G>A (n.*638G>A) c.709G>A (p.Glu237Lys) c.679G>A (p.Glu227Lys) c.583G>A (p.Glu195Lys) c.655G>A (p.Glu219Lys) c.364G>A (p.Glu122Lys) c.268G>A (p.Glu90Lys) n.2215G>A n.1071G>A c.1345G>A (p.Glu449Lys) c.1399G>A (p.Glu467Lys) | |
5 | g.68295251G>C | CA359882993 | PIK3R1 | c.772G>C (p.Glu258Gln) c.862G>C (p.Glu288Gln) c.1672G>C (p.Glu558Gln) c.*642G>C (n.*642G>C) c.1597G>C (p.Glu533Gln) c.1147G>C (p.Glu383Gln) n.1313G>C c.*638G>C (n.*638G>C) c.709G>C (p.Glu237Gln) c.679G>C (p.Glu227Gln) c.583G>C (p.Glu195Gln) c.655G>C (p.Glu219Gln) c.364G>C (p.Glu122Gln) c.268G>C (p.Glu90Gln) n.2215G>C n.1071G>C c.1345G>C (p.Glu449Gln) c.1399G>C (p.Glu467Gln) | dbSNP COSMIC COSMIC COSMIC |
5 | g.68295251G>T | CA359882994 | PIK3R1 | c.772G>T (p.Glu258Ter) c.862G>T (p.Glu288Ter) c.1672G>T (p.Glu558Ter) c.*642G>T (n.*642G>T) c.1597G>T (p.Glu533Ter) c.1147G>T (p.Glu383Ter) n.1313G>T c.*638G>T (n.*638G>T) c.709G>T (p.Glu237Ter) c.679G>T (p.Glu227Ter) c.583G>T (p.Glu195Ter) c.655G>T (p.Glu219Ter) c.364G>T (p.Glu122Ter) c.268G>T (p.Glu90Ter) n.2215G>T n.1071G>T c.1345G>T (p.Glu449Ter) c.1399G>T (p.Glu467Ter) | |
5 | g.68295252A>C | CA359882995 | PIK3R1 | c.773A>C (p.Glu258Ala) c.863A>C (p.Glu288Ala) c.1673A>C (p.Glu558Ala) c.*643A>C (n.*643A>C) c.1598A>C (p.Glu533Ala) c.1148A>C (p.Glu383Ala) n.1314A>C c.*639A>C (n.*639A>C) c.710A>C (p.Glu237Ala) c.680A>C (p.Glu227Ala) c.584A>C (p.Glu195Ala) c.656A>C (p.Glu219Ala) c.365A>C (p.Glu122Ala) c.269A>C (p.Glu90Ala) n.2216A>C n.1072A>C c.1346A>C (p.Glu449Ala) c.1400A>C (p.Glu467Ala) | |
5 | g.68295252A>G | CA359882996 | PIK3R1 | c.773A>G (p.Glu258Gly) c.863A>G (p.Glu288Gly) c.1673A>G (p.Glu558Gly) c.*643A>G (n.*643A>G) c.1598A>G (p.Glu533Gly) c.1148A>G (p.Glu383Gly) n.1314A>G c.*639A>G (n.*639A>G) c.710A>G (p.Glu237Gly) c.680A>G (p.Glu227Gly) c.584A>G (p.Glu195Gly) c.656A>G (p.Glu219Gly) c.365A>G (p.Glu122Gly) c.269A>G (p.Glu90Gly) n.2216A>G n.1072A>G c.1346A>G (p.Glu449Gly) c.1400A>G (p.Glu467Gly) | |
5 | g.68295252A>T | CA359882997 | PIK3R1 | c.773A>T (p.Glu258Val) c.863A>T (p.Glu288Val) c.1673A>T (p.Glu558Val) c.*643A>T (n.*643A>T) c.1598A>T (p.Glu533Val) c.1148A>T (p.Glu383Val) n.1314A>T c.*639A>T (n.*639A>T) c.710A>T (p.Glu237Val) c.680A>T (p.Glu227Val) c.584A>T (p.Glu195Val) c.656A>T (p.Glu219Val) c.365A>T (p.Glu122Val) c.269A>T (p.Glu90Val) n.2216A>T n.1072A>T c.1346A>T (p.Glu449Val) c.1400A>T (p.Glu467Val) | |
5 | g.68295253A>C | CA359882998 | PIK3R1 | c.774A>C (p.Glu258Asp) c.864A>C (p.Glu288Asp) c.1674A>C (p.Glu558Asp) c.*644A>C (n.*644A>C) c.1599A>C (p.Glu533Asp) c.1149A>C (p.Glu383Asp) n.1315A>C c.*640A>C (n.*640A>C) c.711A>C (p.Glu237Asp) c.681A>C (p.Glu227Asp) c.585A>C (p.Glu195Asp) c.657A>C (p.Glu219Asp) c.366A>C (p.Glu122Asp) c.270A>C (p.Glu90Asp) n.2217A>C n.1073A>C c.1347A>C (p.Glu449Asp) c.1401A>C (p.Glu467Asp) | |
5 | g.68295253A>G | CA444672695 | PIK3R1 | c.774A>G (p.Glu258=) c.864A>G (p.Glu288=) c.1674A>G (p.Glu558=) c.*644A>G (n.*644A>G) c.1599A>G (p.Glu533=) c.1149A>G (p.Glu383=) n.1315A>G c.*640A>G (n.*640A>G) c.711A>G (p.Glu237=) c.681A>G (p.Glu227=) c.585A>G (p.Glu195=) c.657A>G (p.Glu219=) c.366A>G (p.Glu122=) c.270A>G (p.Glu90=) n.2217A>G n.1073A>G c.1347A>G (p.Glu449=) c.1401A>G (p.Glu467=) | dbSNP |
5 | g.68295253A>T | CA359882999 | PIK3R1 | c.774A>T (p.Glu258Asp) c.864A>T (p.Glu288Asp) c.1674A>T (p.Glu558Asp) c.*644A>T (n.*644A>T) c.1599A>T (p.Glu533Asp) c.1149A>T (p.Glu383Asp) n.1315A>T c.*640A>T (n.*640A>T) c.711A>T (p.Glu237Asp) c.681A>T (p.Glu227Asp) c.585A>T (p.Glu195Asp) c.657A>T (p.Glu219Asp) c.366A>T (p.Glu122Asp) c.270A>T (p.Glu90Asp) n.2217A>T n.1073A>T c.1347A>T (p.Glu449Asp) c.1401A>T (p.Glu467Asp) | |
5 | g.68295254_68295272del | CA645556593 | PIK3R1 | c.775_793del (p.Ile259AlafsTer9) c.865_883del (p.Ile289AlafsTer9) c.1675_1693del (p.Ile559AlafsTer9) c.*645_*663del (n.*645_*663del) c.1600_1618del (p.Ile534AlafsTer9) c.1150_1168del (p.Ile384AlafsTer9) n.1316_1334del c.*641_*659del (n.*641_*659del) c.712_730del (p.Ile238AlafsTer9) c.682_700del (p.Ile228AlafsTer9) c.586_604del (p.Ile196AlafsTer9) c.658_676del (p.Ile220AlafsTer9) c.367_385del (p.Ile123AlafsTer9) c.271_289del (p.Ile91AlafsTer9) n.2218_2236del n.1074_1092del c.1348_1366del (p.Ile450AlafsTer9) c.1402_1420del (p.Ile468AlafsTer9) | COSMIC COSMIC COSMIC |
5 | g.68295254A>C | CA359883000 | PIK3R1 | c.775A>C (p.Ile259Leu) c.865A>C (p.Ile289Leu) c.1675A>C (p.Ile559Leu) c.*645A>C (n.*645A>C) c.1600A>C (p.Ile534Leu) c.1150A>C (p.Ile384Leu) n.1316A>C c.*641A>C (n.*641A>C) c.712A>C (p.Ile238Leu) c.682A>C (p.Ile228Leu) c.586A>C (p.Ile196Leu) c.658A>C (p.Ile220Leu) c.367A>C (p.Ile123Leu) c.271A>C (p.Ile91Leu) n.2218A>C n.1074A>C c.1348A>C (p.Ile450Leu) c.1402A>C (p.Ile468Leu) | |
5 | g.68295254A>G | CA359883001 | PIK3R1 | c.775A>G (p.Ile259Val) c.865A>G (p.Ile289Val) c.1675A>G (p.Ile559Val) c.*645A>G (n.*645A>G) c.1600A>G (p.Ile534Val) c.1150A>G (p.Ile384Val) n.1316A>G c.*641A>G (n.*641A>G) c.712A>G (p.Ile238Val) c.682A>G (p.Ile228Val) c.586A>G (p.Ile196Val) c.658A>G (p.Ile220Val) c.367A>G (p.Ile123Val) c.271A>G (p.Ile91Val) n.2218A>G n.1074A>G c.1348A>G (p.Ile450Val) c.1402A>G (p.Ile468Val) | gnomAD v4 COSMIC COSMIC COSMIC |
5 | g.68295254A>T | CA359883002 | PIK3R1 | c.775A>T (p.Ile259Phe) c.865A>T (p.Ile289Phe) c.1675A>T (p.Ile559Phe) c.*645A>T (n.*645A>T) c.1600A>T (p.Ile534Phe) c.1150A>T (p.Ile384Phe) n.1316A>T c.*641A>T (n.*641A>T) c.712A>T (p.Ile238Phe) c.682A>T (p.Ile228Phe) c.586A>T (p.Ile196Phe) c.658A>T (p.Ile220Phe) c.367A>T (p.Ile123Phe) c.271A>T (p.Ile91Phe) n.2218A>T n.1074A>T c.1348A>T (p.Ile450Phe) c.1402A>T (p.Ile468Phe) | |
5 | g.68295255T>A | CA359883004 | PIK3R1 | c.776T>A (p.Ile259Asn) c.866T>A (p.Ile289Asn) c.1676T>A (p.Ile559Asn) c.*646T>A (n.*646T>A) c.1601T>A (p.Ile534Asn) c.1151T>A (p.Ile384Asn) n.1317T>A c.*642T>A (n.*642T>A) c.713T>A (p.Ile238Asn) c.683T>A (p.Ile228Asn) c.587T>A (p.Ile196Asn) c.659T>A (p.Ile220Asn) c.368T>A (p.Ile123Asn) c.272T>A (p.Ile91Asn) n.2219T>A n.1075T>A c.1349T>A (p.Ile450Asn) c.1403T>A (p.Ile468Asn) | dbSNP |
5 | g.68295255T>C | CA359883005 | PIK3R1 | c.776T>C (p.Ile259Thr) c.866T>C (p.Ile289Thr) c.1676T>C (p.Ile559Thr) c.*646T>C (n.*646T>C) c.1601T>C (p.Ile534Thr) c.1151T>C (p.Ile384Thr) n.1317T>C c.*642T>C (n.*642T>C) c.713T>C (p.Ile238Thr) c.683T>C (p.Ile228Thr) c.587T>C (p.Ile196Thr) c.659T>C (p.Ile220Thr) c.368T>C (p.Ile123Thr) c.272T>C (p.Ile91Thr) n.2219T>C n.1075T>C c.1349T>C (p.Ile450Thr) c.1403T>C (p.Ile468Thr) | ClinVar gnomAD v4 COSMIC COSMIC COSMIC |
5 | g.68295255T>G | CA359883003 | PIK3R1 | c.776T>G (p.Ile259Ser) c.866T>G (p.Ile289Ser) c.1676T>G (p.Ile559Ser) c.*646T>G (n.*646T>G) c.1601T>G (p.Ile534Ser) c.1151T>G (p.Ile384Ser) n.1317T>G c.*642T>G (n.*642T>G) c.713T>G (p.Ile238Ser) c.683T>G (p.Ile228Ser) c.587T>G (p.Ile196Ser) c.659T>G (p.Ile220Ser) c.368T>G (p.Ile123Ser) c.272T>G (p.Ile91Ser) n.2219T>G n.1075T>G c.1349T>G (p.Ile450Ser) c.1403T>G (p.Ile468Ser) | dbSNP |
5 | g.68295255_68295273delinsTTGACAAACGTATGAACAG | CA1553406162 | PIK3R1 | c.776_794delinsTTGACAAACGTATGAACAG (p.Ile259=) c.866_884delinsTTGACAAACGTATGAACAG (p.Ile289=) c.1676_1694delinsTTGACAAACGTATGAACAG (p.Ile559=) c.*646_*664delinsTTGACAAACGTATGAACAG (n.*646_*664delinsTTGACAAACGTATGAACAG) c.1601_1619delinsTTGACAAACGTATGAACAG (p.Ile534=) c.1151_1169delinsTTGACAAACGTATGAACAG (p.Ile384=) n.1317_1335delinsTTGACAAACGTATGAACAG c.*642_*660delinsTTGACAAACGTATGAACAG (n.*642_*660delinsTTGACAAACGTATGAACAG) c.713_731delinsTTGACAAACGTATGAACAG (p.Ile238=) c.683_701delinsTTGACAAACGTATGAACAG (p.Ile228=) c.587_605delinsTTGACAAACGTATGAACAG (p.Ile196=) c.659_677delinsTTGACAAACGTATGAACAG (p.Ile220=) c.368_386delinsTTGACAAACGTATGAACAG (p.Ile123=) c.272_290delinsTTGACAAACGTATGAACAG (p.Ile91=) n.2219_2237delinsTTGACAAACGTATGAACAG n.1075_1093delinsTTGACAAACGTATGAACAG c.1349_1367delinsTTGACAAACGTATGAACAG (p.Ile450=) c.1403_1421delinsTTGACAAACGTATGAACAG (p.Ile468=) | |
5 | g.68295256T>A | CA444672705 | PIK3R1 | c.777T>A (p.Ile259=) c.867T>A (p.Ile289=) c.1677T>A (p.Ile559=) c.*647T>A (n.*647T>A) c.1602T>A (p.Ile534=) c.1152T>A (p.Ile384=) n.1318T>A c.*643T>A (n.*643T>A) c.714T>A (p.Ile238=) c.684T>A (p.Ile228=) c.588T>A (p.Ile196=) c.660T>A (p.Ile220=) c.369T>A (p.Ile123=) c.273T>A (p.Ile91=) n.2220T>A n.1076T>A c.1350T>A (p.Ile450=) c.1404T>A (p.Ile468=) | |
5 | g.68295256T>C | CA444672706 | PIK3R1 | c.777T>C (p.Ile259=) c.867T>C (p.Ile289=) c.1677T>C (p.Ile559=) c.*647T>C (n.*647T>C) c.1602T>C (p.Ile534=) c.1152T>C (p.Ile384=) n.1318T>C c.*643T>C (n.*643T>C) c.714T>C (p.Ile238=) c.684T>C (p.Ile228=) c.588T>C (p.Ile196=) c.660T>C (p.Ile220=) c.369T>C (p.Ile123=) c.273T>C (p.Ile91=) n.2220T>C n.1076T>C c.1350T>C (p.Ile450=) c.1404T>C (p.Ile468=) | |
5 | g.68295256T>G | CA359883006 | PIK3R1 | c.777T>G (p.Ile259Met) c.867T>G (p.Ile289Met) c.1677T>G (p.Ile559Met) c.*647T>G (n.*647T>G) c.1602T>G (p.Ile534Met) c.1152T>G (p.Ile384Met) n.1318T>G c.*643T>G (n.*643T>G) c.714T>G (p.Ile238Met) c.684T>G (p.Ile228Met) c.588T>G (p.Ile196Met) c.660T>G (p.Ile220Met) c.369T>G (p.Ile123Met) c.273T>G (p.Ile91Met) n.2220T>G n.1076T>G c.1350T>G (p.Ile450Met) c.1404T>G (p.Ile468Met) | |
5 | g.68295256_68295273del | CA3290458 | PIK3R1 | c.777_794del (p.Asp260_Ser265del) c.867_884del (p.Asp290_Ser295del) c.1677_1694del (p.Asp560_Ser565del) c.*647_*664del (n.*647_*664del) c.1602_1619del (p.Asp535_Ser540del) c.1152_1169del (p.Asp385_Ser390del) n.1318_1335del c.*643_*660del (n.*643_*660del) c.714_731del (p.Asp239_Ser244del) c.684_701del (p.Asp229_Ser234del) c.588_605del (p.Asp197_Ser202del) c.660_677del (p.Asp221_Ser226del) c.369_386del (p.Asp124_Ser129del) c.273_290del (p.Asp92_Ser97del) n.2220_2237del n.1076_1093del c.1350_1367del (p.Asp451_Ser456del) c.1404_1421del (p.Asp469_Ser474del) | dbSNP ExAC |
5 | g.68295256_68295274delinsTGACAAACGTATGAACAGC | CA1553406163 | PIK3R1 | c.777_795delinsTGACAAACGTATGAACAGC (p.Ile259=) c.867_885delinsTGACAAACGTATGAACAGC (p.Ile289=) c.1677_1695delinsTGACAAACGTATGAACAGC (p.Ile559=) c.*647_*665delinsTGACAAACGTATGAACAGC (n.*647_*665delinsTGACAAACGTATGAACAGC) c.1602_1620delinsTGACAAACGTATGAACAGC (p.Ile534=) c.1152_1170delinsTGACAAACGTATGAACAGC (p.Ile384=) n.1318_1336delinsTGACAAACGTATGAACAGC c.*643_*661delinsTGACAAACGTATGAACAGC (n.*643_*661delinsTGACAAACGTATGAACAGC) c.714_732delinsTGACAAACGTATGAACAGC (p.Ile238=) c.684_702delinsTGACAAACGTATGAACAGC (p.Ile228=) c.588_606delinsTGACAAACGTATGAACAGC (p.Ile196=) c.660_678delinsTGACAAACGTATGAACAGC (p.Ile220=) c.369_387delinsTGACAAACGTATGAACAGC (p.Ile123=) c.273_291delinsTGACAAACGTATGAACAGC (p.Ile91=) n.2220_2238delinsTGACAAACGTATGAACAGC n.1076_1094delinsTGACAAACGTATGAACAGC c.1350_1368delinsTGACAAACGTATGAACAGC (p.Ile450=) c.1404_1422delinsTGACAAACGTATGAACAGC (p.Ile468=) | |
5 | g.68295257G>A | CA359883008 | PIK3R1 | c.778G>A (p.Asp260Asn) c.868G>A (p.Asp290Asn) c.1678G>A (p.Asp560Asn) c.*648G>A (n.*648G>A) c.1603G>A (p.Asp535Asn) c.1153G>A (p.Asp385Asn) n.1319G>A c.*644G>A (n.*644G>A) c.715G>A (p.Asp239Asn) c.685G>A (p.Asp229Asn) c.589G>A (p.Asp197Asn) c.661G>A (p.Asp221Asn) c.370G>A (p.Asp124Asn) c.274G>A (p.Asp92Asn) n.2221G>A n.1077G>A c.1351G>A (p.Asp451Asn) c.1405G>A (p.Asp469Asn) | dbSNP COSMIC |
5 | g.68295257G>C | CA359883007 | PIK3R1 | c.778G>C (p.Asp260His) c.868G>C (p.Asp290His) c.1678G>C (p.Asp560His) c.*648G>C (n.*648G>C) c.1603G>C (p.Asp535His) c.1153G>C (p.Asp385His) n.1319G>C c.*644G>C (n.*644G>C) c.715G>C (p.Asp239His) c.685G>C (p.Asp229His) c.589G>C (p.Asp197His) c.661G>C (p.Asp221His) c.370G>C (p.Asp124His) c.274G>C (p.Asp92His) n.2221G>C n.1077G>C c.1351G>C (p.Asp451His) c.1405G>C (p.Asp469His) | dbSNP COSMIC COSMIC COSMIC |
5 | g.68295257G= | CA1553406164 | PIK3R1 | c.778G= (p.Asp260=) c.868G= (p.Asp290=) c.1678G= (p.Asp560=) c.*648G= (n.*648G=) c.1603G= (p.Asp535=) c.1153G= (p.Asp385=) n.1319G= c.*644G= (n.*644G=) c.715G= (p.Asp239=) c.685G= (p.Asp229=) c.589G= (p.Asp197=) c.661G= (p.Asp221=) c.370G= (p.Asp124=) c.274G= (p.Asp92=) n.2221G= n.1077G= c.1351G= (p.Asp451=) c.1405G= (p.Asp469=) | |
5 | g.68295257G>T | CA16602708 | PIK3R1 | c.778G>T (p.Asp260Tyr) c.868G>T (p.Asp290Tyr) c.1678G>T (p.Asp560Tyr) c.*648G>T (n.*648G>T) c.1603G>T (p.Asp535Tyr) c.1153G>T (p.Asp385Tyr) n.1319G>T c.*644G>T (n.*644G>T) c.715G>T (p.Asp239Tyr) c.685G>T (p.Asp229Tyr) c.589G>T (p.Asp197Tyr) c.661G>T (p.Asp221Tyr) c.370G>T (p.Asp124Tyr) c.274G>T (p.Asp92Tyr) n.2221G>T n.1077G>T c.1351G>T (p.Asp451Tyr) c.1405G>T (p.Asp469Tyr) | ClinVar dbSNP COSMIC |
5 | g.68295257_68295274del | CA16602709 | PIK3R1 | c.778_795del (p.Asp260_Ser265del) c.868_885del (p.Asp290_Ser295del) c.1678_1695del (p.Asp560_Ser565del) c.*648_*665del (n.*648_*665del) c.1603_1620del (p.Asp535_Ser540del) c.1153_1170del (p.Asp385_Ser390del) n.1319_1336del c.*644_*661del (n.*644_*661del) c.715_732del (p.Asp239_Ser244del) c.685_702del (p.Asp229_Ser234del) c.589_606del (p.Asp197_Ser202del) c.661_678del (p.Asp221_Ser226del) c.370_387del (p.Asp124_Ser129del) c.274_291del (p.Asp92_Ser97del) n.2221_2238del n.1077_1094del c.1351_1368del (p.Asp451_Ser456del) c.1405_1422del (p.Asp469_Ser474del) | ClinVar dbSNP |
5 | g.68295258A>C | CA359883009 | PIK3R1 | c.779A>C (p.Asp260Ala) c.869A>C (p.Asp290Ala) c.1679A>C (p.Asp560Ala) c.*649A>C (n.*649A>C) c.1604A>C (p.Asp535Ala) c.1154A>C (p.Asp385Ala) n.1320A>C c.*645A>C (n.*645A>C) c.716A>C (p.Asp239Ala) c.686A>C (p.Asp229Ala) c.590A>C (p.Asp197Ala) c.662A>C (p.Asp221Ala) c.371A>C (p.Asp124Ala) c.275A>C (p.Asp92Ala) n.2222A>C n.1078A>C c.1352A>C (p.Asp451Ala) c.1406A>C (p.Asp469Ala) | dbSNP |
5 | g.68295258A>G | CA359883011 | PIK3R1 | c.779A>G (p.Asp260Gly) c.869A>G (p.Asp290Gly) c.1679A>G (p.Asp560Gly) c.*649A>G (n.*649A>G) c.1604A>G (p.Asp535Gly) c.1154A>G (p.Asp385Gly) n.1320A>G c.*645A>G (n.*645A>G) c.716A>G (p.Asp239Gly) c.686A>G (p.Asp229Gly) c.590A>G (p.Asp197Gly) c.662A>G (p.Asp221Gly) c.371A>G (p.Asp124Gly) c.275A>G (p.Asp92Gly) n.2222A>G n.1078A>G c.1352A>G (p.Asp451Gly) c.1406A>G (p.Asp469Gly) | dbSNP COSMIC COSMIC COSMIC |
5 | g.68295258A>T | CA359883010 | PIK3R1 | c.779A>T (p.Asp260Val) c.869A>T (p.Asp290Val) c.1679A>T (p.Asp560Val) c.*649A>T (n.*649A>T) c.1604A>T (p.Asp535Val) c.1154A>T (p.Asp385Val) n.1320A>T c.*645A>T (n.*645A>T) c.716A>T (p.Asp239Val) c.686A>T (p.Asp229Val) c.590A>T (p.Asp197Val) c.662A>T (p.Asp221Val) c.371A>T (p.Asp124Val) c.275A>T (p.Asp92Val) n.2222A>T n.1078A>T c.1352A>T (p.Asp451Val) c.1406A>T (p.Asp469Val) | dbSNP |
5 | g.68295258dup | CA2709238933 | PIK3R1 | c.779dup (p.Asp260GlufsTer8) c.869dup (p.Asp290GlufsTer8) c.1679dup (p.Asp560GlufsTer8) c.*649dup (n.*649dup) c.1604dup (p.Asp535GlufsTer8) c.1154dup (p.Asp385GlufsTer8) n.1320dup c.*645dup (n.*645dup) c.716dup (p.Asp239GlufsTer8) c.686dup (p.Asp229GlufsTer8) c.590dup (p.Asp197GlufsTer8) c.662dup (p.Asp221GlufsTer8) c.371dup (p.Asp124GlufsTer8) c.275dup (p.Asp92GlufsTer8) n.2222dup n.1078dup c.1352dup (p.Asp451GlufsTer8) c.1406dup (p.Asp469GlufsTer8) | dbSNP |
5 | g.68295259C>A | CA359883012 | PIK3R1 | c.780C>A (p.Asp260Glu) c.870C>A (p.Asp290Glu) c.1680C>A (p.Asp560Glu) c.*650C>A (n.*650C>A) c.1605C>A (p.Asp535Glu) c.1155C>A (p.Asp385Glu) n.1321C>A c.*646C>A (n.*646C>A) c.717C>A (p.Asp239Glu) c.687C>A (p.Asp229Glu) c.591C>A (p.Asp197Glu) c.663C>A (p.Asp221Glu) c.372C>A (p.Asp124Glu) c.276C>A (p.Asp92Glu) n.2223C>A n.1079C>A c.1353C>A (p.Asp451Glu) c.1407C>A (p.Asp469Glu) | |
5 | g.68295259C>G | CA359883013 | PIK3R1 | c.780C>G (p.Asp260Glu) c.870C>G (p.Asp290Glu) c.1680C>G (p.Asp560Glu) c.*650C>G (n.*650C>G) c.1605C>G (p.Asp535Glu) c.1155C>G (p.Asp385Glu) n.1321C>G c.*646C>G (n.*646C>G) c.717C>G (p.Asp239Glu) c.687C>G (p.Asp229Glu) c.591C>G (p.Asp197Glu) c.663C>G (p.Asp221Glu) c.372C>G (p.Asp124Glu) c.276C>G (p.Asp92Glu) n.2223C>G n.1079C>G c.1353C>G (p.Asp451Glu) c.1407C>G (p.Asp469Glu) | dbSNP |
5 | g.68295259C>T | CA444672717 | PIK3R1 | c.780C>T (p.Asp260=) c.870C>T (p.Asp290=) c.1680C>T (p.Asp560=) c.*650C>T (n.*650C>T) c.1605C>T (p.Asp535=) c.1155C>T (p.Asp385=) n.1321C>T c.*646C>T (n.*646C>T) c.717C>T (p.Asp239=) c.687C>T (p.Asp229=) c.591C>T (p.Asp197=) c.663C>T (p.Asp221=) c.372C>T (p.Asp124=) c.276C>T (p.Asp92=) n.2223C>T n.1079C>T c.1353C>T (p.Asp451=) c.1407C>T (p.Asp469=) | dbSNP |
5 | g.68295260A>C | CA359883014 | PIK3R1 | c.781A>C (p.Lys261Gln) c.871A>C (p.Lys291Gln) c.1681A>C (p.Lys561Gln) c.*651A>C (n.*651A>C) c.1606A>C (p.Lys536Gln) c.1156A>C (p.Lys386Gln) n.1322A>C c.*647A>C (n.*647A>C) c.718A>C (p.Lys240Gln) c.688A>C (p.Lys230Gln) c.592A>C (p.Lys198Gln) c.664A>C (p.Lys222Gln) c.373A>C (p.Lys125Gln) c.277A>C (p.Lys93Gln) n.2224A>C n.1080A>C c.1354A>C (p.Lys452Gln) c.1408A>C (p.Lys470Gln) | |
5 | g.68295260A>G | CA359883015 | PIK3R1 | c.781A>G (p.Lys261Glu) c.871A>G (p.Lys291Glu) c.1681A>G (p.Lys561Glu) c.*651A>G (n.*651A>G) c.1606A>G (p.Lys536Glu) c.1156A>G (p.Lys386Glu) n.1322A>G c.*647A>G (n.*647A>G) c.718A>G (p.Lys240Glu) c.688A>G (p.Lys230Glu) c.592A>G (p.Lys198Glu) c.664A>G (p.Lys222Glu) c.373A>G (p.Lys125Glu) c.277A>G (p.Lys93Glu) n.2224A>G n.1080A>G c.1354A>G (p.Lys452Glu) c.1408A>G (p.Lys470Glu) | dbSNP |
5 | g.68295260A>T | CA359883016 | PIK3R1 | c.781A>T (p.Lys261Ter) c.871A>T (p.Lys291Ter) c.1681A>T (p.Lys561Ter) c.*651A>T (n.*651A>T) c.1606A>T (p.Lys536Ter) c.1156A>T (p.Lys386Ter) n.1322A>T c.*647A>T (n.*647A>T) c.718A>T (p.Lys240Ter) c.688A>T (p.Lys230Ter) c.592A>T (p.Lys198Ter) c.664A>T (p.Lys222Ter) c.373A>T (p.Lys125Ter) c.277A>T (p.Lys93Ter) n.2224A>T n.1080A>T c.1354A>T (p.Lys452Ter) c.1408A>T (p.Lys470Ter) | COSMIC COSMIC COSMIC |
5 | g.68295261A>C | CA359883017 | PIK3R1 | c.782A>C (p.Lys261Thr) c.872A>C (p.Lys291Thr) c.1682A>C (p.Lys561Thr) c.*652A>C (n.*652A>C) c.1607A>C (p.Lys536Thr) c.1157A>C (p.Lys386Thr) n.1323A>C c.*648A>C (n.*648A>C) c.719A>C (p.Lys240Thr) c.689A>C (p.Lys230Thr) c.593A>C (p.Lys198Thr) c.665A>C (p.Lys222Thr) c.374A>C (p.Lys125Thr) c.278A>C (p.Lys93Thr) n.2225A>C n.1081A>C c.1355A>C (p.Lys452Thr) c.1409A>C (p.Lys470Thr) | |
5 | g.68295261A>G | CA359883018 | PIK3R1 | c.782A>G (p.Lys261Arg) c.872A>G (p.Lys291Arg) c.1682A>G (p.Lys561Arg) c.*652A>G (n.*652A>G) c.1607A>G (p.Lys536Arg) c.1157A>G (p.Lys386Arg) n.1323A>G c.*648A>G (n.*648A>G) c.719A>G (p.Lys240Arg) c.689A>G (p.Lys230Arg) c.593A>G (p.Lys198Arg) c.665A>G (p.Lys222Arg) c.374A>G (p.Lys125Arg) c.278A>G (p.Lys93Arg) n.2225A>G n.1081A>G c.1355A>G (p.Lys452Arg) c.1409A>G (p.Lys470Arg) | dbSNP gnomAD v4 |
5 | g.68295261A>T | CA359883019 | PIK3R1 | c.782A>T (p.Lys261Ile) c.872A>T (p.Lys291Ile) c.1682A>T (p.Lys561Ile) c.*652A>T (n.*652A>T) c.1607A>T (p.Lys536Ile) c.1157A>T (p.Lys386Ile) n.1323A>T c.*648A>T (n.*648A>T) c.719A>T (p.Lys240Ile) c.689A>T (p.Lys230Ile) c.593A>T (p.Lys198Ile) c.665A>T (p.Lys222Ile) c.374A>T (p.Lys125Ile) c.278A>T (p.Lys93Ile) n.2225A>T n.1081A>T c.1355A>T (p.Lys452Ile) c.1409A>T (p.Lys470Ile) | dbSNP |
5 | g.68295262A= | CA1553406165 | PIK3R1 | c.783A= (p.Lys261=) c.873A= (p.Lys291=) c.1683A= (p.Lys561=) c.*653A= (n.*653A=) c.1608A= (p.Lys536=) c.1158A= (p.Lys386=) n.1324A= c.*649A= (n.*649A=) c.720A= (p.Lys240=) c.690A= (p.Lys230=) c.594A= (p.Lys198=) c.666A= (p.Lys222=) c.375A= (p.Lys125=) c.279A= (p.Lys93=) n.2226A= n.1082A= c.1356A= (p.Lys452=) c.1410A= (p.Lys470=) | |
5 | g.68295262A>C | CA359883020 | PIK3R1 | c.783A>C (p.Lys261Asn) c.873A>C (p.Lys291Asn) c.1683A>C (p.Lys561Asn) c.*653A>C (n.*653A>C) c.1608A>C (p.Lys536Asn) c.1158A>C (p.Lys386Asn) n.1324A>C c.*649A>C (n.*649A>C) c.720A>C (p.Lys240Asn) c.690A>C (p.Lys230Asn) c.594A>C (p.Lys198Asn) c.666A>C (p.Lys222Asn) c.375A>C (p.Lys125Asn) c.279A>C (p.Lys93Asn) n.2226A>C n.1082A>C c.1356A>C (p.Lys452Asn) c.1410A>C (p.Lys470Asn) | |
5 | g.68295262A>G | CA444672725 | PIK3R1 | c.783A>G (p.Lys261=) c.873A>G (p.Lys291=) c.1683A>G (p.Lys561=) c.*653A>G (n.*653A>G) c.1608A>G (p.Lys536=) c.1158A>G (p.Lys386=) n.1324A>G c.*649A>G (n.*649A>G) c.720A>G (p.Lys240=) c.690A>G (p.Lys230=) c.594A>G (p.Lys198=) c.666A>G (p.Lys222=) c.375A>G (p.Lys125=) c.279A>G (p.Lys93=) n.2226A>G n.1082A>G c.1356A>G (p.Lys452=) c.1410A>G (p.Lys470=) | ClinVar dbSNP |
5 | g.68295262A>T | CA359883021 | PIK3R1 | c.783A>T (p.Lys261Asn) c.873A>T (p.Lys291Asn) c.1683A>T (p.Lys561Asn) c.*653A>T (n.*653A>T) c.1608A>T (p.Lys536Asn) c.1158A>T (p.Lys386Asn) n.1324A>T c.*649A>T (n.*649A>T) c.720A>T (p.Lys240Asn) c.690A>T (p.Lys230Asn) c.594A>T (p.Lys198Asn) c.666A>T (p.Lys222Asn) c.375A>T (p.Lys125Asn) c.279A>T (p.Lys93Asn) n.2226A>T n.1082A>T c.1356A>T (p.Lys452Asn) c.1410A>T (p.Lys470Asn) | dbSNP |
5 | g.68295263C>A | CA359883022 | PIK3R1 | c.784C>A (p.Arg262Ser) c.874C>A (p.Arg292Ser) c.1684C>A (p.Arg562Ser) c.*654C>A (n.*654C>A) c.1609C>A (p.Arg537Ser) c.1159C>A (p.Arg387Ser) n.1325C>A c.*650C>A (n.*650C>A) c.721C>A (p.Arg241Ser) c.691C>A (p.Arg231Ser) c.595C>A (p.Arg199Ser) c.667C>A (p.Arg223Ser) c.376C>A (p.Arg126Ser) c.280C>A (p.Arg94Ser) n.2227C>A n.1083C>A c.1357C>A (p.Arg453Ser) c.1411C>A (p.Arg471Ser) | |
5 | g.68295263C= | CA1553406166 | PIK3R1 | c.784C= (p.Arg262=) c.874C= (p.Arg292=) c.1684C= (p.Arg562=) c.*654C= (n.*654C=) c.1609C= (p.Arg537=) c.1159C= (p.Arg387=) n.1325C= c.*650C= (n.*650C=) c.721C= (p.Arg241=) c.691C= (p.Arg231=) c.595C= (p.Arg199=) c.667C= (p.Arg223=) c.376C= (p.Arg126=) c.280C= (p.Arg94=) n.2227C= n.1083C= c.1357C= (p.Arg453=) c.1411C= (p.Arg471=) | |
5 | g.68295263C>G | CA359883023 | PIK3R1 | c.784C>G (p.Arg262Gly) c.874C>G (p.Arg292Gly) c.1684C>G (p.Arg562Gly) c.*654C>G (n.*654C>G) c.1609C>G (p.Arg537Gly) c.1159C>G (p.Arg387Gly) n.1325C>G c.*650C>G (n.*650C>G) c.721C>G (p.Arg241Gly) c.691C>G (p.Arg231Gly) c.595C>G (p.Arg199Gly) c.667C>G (p.Arg223Gly) c.376C>G (p.Arg126Gly) c.280C>G (p.Arg94Gly) n.2227C>G n.1083C>G c.1357C>G (p.Arg453Gly) c.1411C>G (p.Arg471Gly) | dbSNP |
5 | g.68295263C>T | CA3290459 | PIK3R1 | c.784C>T (p.Arg262Cys) c.874C>T (p.Arg292Cys) c.1684C>T (p.Arg562Cys) c.*654C>T (n.*654C>T) c.1609C>T (p.Arg537Cys) c.1159C>T (p.Arg387Cys) n.1325C>T c.*650C>T (n.*650C>T) c.721C>T (p.Arg241Cys) c.691C>T (p.Arg231Cys) c.595C>T (p.Arg199Cys) c.667C>T (p.Arg223Cys) c.376C>T (p.Arg126Cys) c.280C>T (p.Arg94Cys) n.2227C>T n.1083C>T c.1357C>T (p.Arg453Cys) c.1411C>T (p.Arg471Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
5 | g.68295264G>A | CA359883026 | PIK3R1 | c.785G>A (p.Arg262His) c.875G>A (p.Arg292His) c.1685G>A (p.Arg562His) c.*655G>A (n.*655G>A) c.1610G>A (p.Arg537His) c.1160G>A (p.Arg387His) n.1326G>A c.*651G>A (n.*651G>A) c.722G>A (p.Arg241His) c.692G>A (p.Arg231His) c.596G>A (p.Arg199His) c.668G>A (p.Arg223His) c.377G>A (p.Arg126His) c.281G>A (p.Arg94His) n.2228G>A n.1084G>A c.1358G>A (p.Arg453His) c.1412G>A (p.Arg471His) | ClinVar dbSNP gnomAD v4 |
5 | g.68295264G>C | CA359883024 | PIK3R1 | c.785G>C (p.Arg262Pro) c.875G>C (p.Arg292Pro) c.1685G>C (p.Arg562Pro) c.*655G>C (n.*655G>C) c.1610G>C (p.Arg537Pro) c.1160G>C (p.Arg387Pro) n.1326G>C c.*651G>C (n.*651G>C) c.722G>C (p.Arg241Pro) c.692G>C (p.Arg231Pro) c.596G>C (p.Arg199Pro) c.668G>C (p.Arg223Pro) c.377G>C (p.Arg126Pro) c.281G>C (p.Arg94Pro) n.2228G>C n.1084G>C c.1358G>C (p.Arg453Pro) c.1412G>C (p.Arg471Pro) | dbSNP |
5 | g.68295264G= | CA1553406167 | PIK3R1 | c.785G= (p.Arg262=) c.875G= (p.Arg292=) c.1685G= (p.Arg562=) c.*655G= (n.*655G=) c.1610G= (p.Arg537=) c.1160G= (p.Arg387=) n.1326G= c.*651G= (n.*651G=) c.722G= (p.Arg241=) c.692G= (p.Arg231=) c.596G= (p.Arg199=) c.668G= (p.Arg223=) c.377G= (p.Arg126=) c.281G= (p.Arg94=) n.2228G= n.1084G= c.1358G= (p.Arg453=) c.1412G= (p.Arg471=) | |
5 | g.68295264G>T | CA359883025 | PIK3R1 | c.785G>T (p.Arg262Leu) c.875G>T (p.Arg292Leu) c.1685G>T (p.Arg562Leu) c.*655G>T (n.*655G>T) c.1610G>T (p.Arg537Leu) c.1160G>T (p.Arg387Leu) n.1326G>T c.*651G>T (n.*651G>T) c.722G>T (p.Arg241Leu) c.692G>T (p.Arg231Leu) c.596G>T (p.Arg199Leu) c.668G>T (p.Arg223Leu) c.377G>T (p.Arg126Leu) c.281G>T (p.Arg94Leu) n.2228G>T n.1084G>T c.1358G>T (p.Arg453Leu) c.1412G>T (p.Arg471Leu) | |
5 | g.68295265T>A | CA444672734 | PIK3R1 | c.786T>A (p.Arg262=) c.876T>A (p.Arg292=) c.1686T>A (p.Arg562=) c.*656T>A (n.*656T>A) c.1611T>A (p.Arg537=) c.1161T>A (p.Arg387=) n.1327T>A c.*652T>A (n.*652T>A) c.723T>A (p.Arg241=) c.693T>A (p.Arg231=) c.597T>A (p.Arg199=) c.669T>A (p.Arg223=) c.378T>A (p.Arg126=) c.282T>A (p.Arg94=) n.2229T>A n.1085T>A c.1359T>A (p.Arg453=) c.1413T>A (p.Arg471=) | dbSNP |
5 | g.68295265T>C | CA444672735 | PIK3R1 | c.786T>C (p.Arg262=) c.876T>C (p.Arg292=) c.1686T>C (p.Arg562=) c.*656T>C (n.*656T>C) c.1611T>C (p.Arg537=) c.1161T>C (p.Arg387=) n.1327T>C c.*652T>C (n.*652T>C) c.723T>C (p.Arg241=) c.693T>C (p.Arg231=) c.597T>C (p.Arg199=) c.669T>C (p.Arg223=) c.378T>C (p.Arg126=) c.282T>C (p.Arg94=) n.2229T>C n.1085T>C c.1359T>C (p.Arg453=) c.1413T>C (p.Arg471=) | |
5 | g.68295265T>G | CA444672736 | PIK3R1 | c.786T>G (p.Arg262=) c.876T>G (p.Arg292=) c.1686T>G (p.Arg562=) c.*656T>G (n.*656T>G) c.1611T>G (p.Arg537=) c.1161T>G (p.Arg387=) n.1327T>G c.*652T>G (n.*652T>G) c.723T>G (p.Arg241=) c.693T>G (p.Arg231=) c.597T>G (p.Arg199=) c.669T>G (p.Arg223=) c.378T>G (p.Arg126=) c.282T>G (p.Arg94=) n.2229T>G n.1085T>G c.1359T>G (p.Arg453=) c.1413T>G (p.Arg471=) | |
5 | g.68295266A>C | CA359883027 | PIK3R1 | c.787A>C (p.Met263Leu) c.877A>C (p.Met293Leu) c.1687A>C (p.Met563Leu) c.*657A>C (n.*657A>C) c.1612A>C (p.Met538Leu) c.1162A>C (p.Met388Leu) n.1328A>C c.*653A>C (n.*653A>C) c.724A>C (p.Met242Leu) c.694A>C (p.Met232Leu) c.598A>C (p.Met200Leu) c.670A>C (p.Met224Leu) c.379A>C (p.Met127Leu) c.283A>C (p.Met95Leu) n.2230A>C n.1086A>C c.1360A>C (p.Met454Leu) c.1414A>C (p.Met472Leu) | |
5 | g.68295266A>G | CA359883028 | PIK3R1 | c.787A>G (p.Met263Val) c.877A>G (p.Met293Val) c.1687A>G (p.Met563Val) c.*657A>G (n.*657A>G) c.1612A>G (p.Met538Val) c.1162A>G (p.Met388Val) n.1328A>G c.*653A>G (n.*653A>G) c.724A>G (p.Met242Val) c.694A>G (p.Met232Val) c.598A>G (p.Met200Val) c.670A>G (p.Met224Val) c.379A>G (p.Met127Val) c.283A>G (p.Met95Val) n.2230A>G n.1086A>G c.1360A>G (p.Met454Val) c.1414A>G (p.Met472Val) | |
5 | g.68295266A>T | CA359883029 | PIK3R1 | c.787A>T (p.Met263Leu) c.877A>T (p.Met293Leu) c.1687A>T (p.Met563Leu) c.*657A>T (n.*657A>T) c.1612A>T (p.Met538Leu) c.1162A>T (p.Met388Leu) n.1328A>T c.*653A>T (n.*653A>T) c.724A>T (p.Met242Leu) c.694A>T (p.Met232Leu) c.598A>T (p.Met200Leu) c.670A>T (p.Met224Leu) c.379A>T (p.Met127Leu) c.283A>T (p.Met95Leu) n.2230A>T n.1086A>T c.1360A>T (p.Met454Leu) c.1414A>T (p.Met472Leu) | |
5 | g.68295267T>A | CA359883030 | PIK3R1 | c.788T>A (p.Met263Lys) c.878T>A (p.Met293Lys) c.1688T>A (p.Met563Lys) c.*658T>A (n.*658T>A) c.1613T>A (p.Met538Lys) c.1163T>A (p.Met388Lys) n.1329T>A c.*654T>A (n.*654T>A) c.725T>A (p.Met242Lys) c.695T>A (p.Met232Lys) c.599T>A (p.Met200Lys) c.671T>A (p.Met224Lys) c.380T>A (p.Met127Lys) c.284T>A (p.Met95Lys) n.2231T>A n.1087T>A c.1361T>A (p.Met454Lys) c.1415T>A (p.Met472Lys) | dbSNP |
5 | g.68295267T>C | CA359883031 | PIK3R1 | c.788T>C (p.Met263Thr) c.878T>C (p.Met293Thr) c.1688T>C (p.Met563Thr) c.*658T>C (n.*658T>C) c.1613T>C (p.Met538Thr) c.1163T>C (p.Met388Thr) n.1329T>C c.*654T>C (n.*654T>C) c.725T>C (p.Met242Thr) c.695T>C (p.Met232Thr) c.599T>C (p.Met200Thr) c.671T>C (p.Met224Thr) c.380T>C (p.Met127Thr) c.284T>C (p.Met95Thr) n.2231T>C n.1087T>C c.1361T>C (p.Met454Thr) c.1415T>C (p.Met472Thr) | |
5 | g.68295267T>G | CA359883032 | PIK3R1 | c.788T>G (p.Met263Arg) c.878T>G (p.Met293Arg) c.1688T>G (p.Met563Arg) c.*658T>G (n.*658T>G) c.1613T>G (p.Met538Arg) c.1163T>G (p.Met388Arg) n.1329T>G c.*654T>G (n.*654T>G) c.725T>G (p.Met242Arg) c.695T>G (p.Met232Arg) c.599T>G (p.Met200Arg) c.671T>G (p.Met224Arg) c.380T>G (p.Met127Arg) c.284T>G (p.Met95Arg) n.2231T>G n.1087T>G c.1361T>G (p.Met454Arg) c.1415T>G (p.Met472Arg) | |
5 | g.68295268_68295288del | CA645556595 | PIK3R1 | c.789_809del (p.Met263_Leu270delinsIle) c.879_899del (p.Met293_Leu300delinsIle) c.1689_1709del (p.Met563_Leu570delinsIle) c.*659_*679del (n.*659_*679del) c.1614_1634del (p.Met538_Leu545delinsIle) c.1164_1184del (p.Met388_Leu395delinsIle) n.1330_1350del c.*655_*675del (n.*655_*675del) c.726_746del (p.Met242_Leu249delinsIle) c.696_716del (p.Met232_Leu239delinsIle) c.600_620del (p.Met200_Leu207delinsIle) c.672_692del (p.Met224_Leu231delinsIle) c.381_401del (p.Met127_Leu134delinsIle) c.285_305del (p.Met95_Leu102delinsIle) n.2232_2252del n.1088_1108del c.1362_1382del (p.Met454_Leu461delinsIle) c.1416_1436del (p.Met472_Leu479delinsIle) | COSMIC COSMIC COSMIC |
5 | g.68295268G>A | CA359883033 | PIK3R1 | c.789G>A (p.Met263Ile) c.879G>A (p.Met293Ile) c.1689G>A (p.Met563Ile) c.*659G>A (n.*659G>A) c.1614G>A (p.Met538Ile) c.1164G>A (p.Met388Ile) n.1330G>A c.*655G>A (n.*655G>A) c.726G>A (p.Met242Ile) c.696G>A (p.Met232Ile) c.600G>A (p.Met200Ile) c.672G>A (p.Met224Ile) c.381G>A (p.Met127Ile) c.285G>A (p.Met95Ile) n.2232G>A n.1088G>A c.1362G>A (p.Met454Ile) c.1416G>A (p.Met472Ile) | dbSNP |
5 | g.68295268G>C | CA359883034 | PIK3R1 | c.789G>C (p.Met263Ile) c.879G>C (p.Met293Ile) c.1689G>C (p.Met563Ile) c.*659G>C (n.*659G>C) c.1614G>C (p.Met538Ile) c.1164G>C (p.Met388Ile) n.1330G>C c.*655G>C (n.*655G>C) c.726G>C (p.Met242Ile) c.696G>C (p.Met232Ile) c.600G>C (p.Met200Ile) c.672G>C (p.Met224Ile) c.381G>C (p.Met127Ile) c.285G>C (p.Met95Ile) n.2232G>C n.1088G>C c.1362G>C (p.Met454Ile) c.1416G>C (p.Met472Ile) | dbSNP |
5 | g.68295268G>T | CA359883035 | PIK3R1 | c.789G>T (p.Met263Ile) c.879G>T (p.Met293Ile) c.1689G>T (p.Met563Ile) c.*659G>T (n.*659G>T) c.1614G>T (p.Met538Ile) c.1164G>T (p.Met388Ile) n.1330G>T c.*655G>T (n.*655G>T) c.726G>T (p.Met242Ile) c.696G>T (p.Met232Ile) c.600G>T (p.Met200Ile) c.672G>T (p.Met224Ile) c.381G>T (p.Met127Ile) c.285G>T (p.Met95Ile) n.2232G>T n.1088G>T c.1362G>T (p.Met454Ile) c.1416G>T (p.Met472Ile) | dbSNP |
5 | g.68295269A= | CA1553406168 | PIK3R1 | c.790A= (p.Asn264=) c.880A= (p.Asn294=) c.1690A= (p.Asn564=) c.*660A= (n.*660A=) c.1615A= (p.Asn539=) c.1165A= (p.Asn389=) n.1331A= c.*656A= (n.*656A=) c.727A= (p.Asn243=) c.697A= (p.Asn233=) c.601A= (p.Asn201=) c.673A= (p.Asn225=) c.382A= (p.Asn128=) c.286A= (p.Asn96=) n.2233A= n.1089A= c.1363A= (p.Asn455=) c.1417A= (p.Asn473=) | |
5 | g.68295269A>C | CA359883036 | PIK3R1 | c.790A>C (p.Asn264His) c.880A>C (p.Asn294His) c.1690A>C (p.Asn564His) c.*660A>C (n.*660A>C) c.1615A>C (p.Asn539His) c.1165A>C (p.Asn389His) n.1331A>C c.*656A>C (n.*656A>C) c.727A>C (p.Asn243His) c.697A>C (p.Asn233His) c.601A>C (p.Asn201His) c.673A>C (p.Asn225His) c.382A>C (p.Asn128His) c.286A>C (p.Asn96His) n.2233A>C n.1089A>C c.1363A>C (p.Asn455His) c.1417A>C (p.Asn473His) | |
5 | g.68295269A>G | CA16602710 | PIK3R1 | c.790A>G (p.Asn264Asp) c.880A>G (p.Asn294Asp) c.1690A>G (p.Asn564Asp) c.*660A>G (n.*660A>G) c.1615A>G (p.Asn539Asp) c.1165A>G (p.Asn389Asp) n.1331A>G c.*656A>G (n.*656A>G) c.727A>G (p.Asn243Asp) c.697A>G (p.Asn233Asp) c.601A>G (p.Asn201Asp) c.673A>G (p.Asn225Asp) c.382A>G (p.Asn128Asp) c.286A>G (p.Asn96Asp) n.2233A>G n.1089A>G c.1363A>G (p.Asn455Asp) c.1417A>G (p.Asn473Asp) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
5 | g.68295269A>T | CA359883037 | PIK3R1 | c.790A>T (p.Asn264Tyr) c.880A>T (p.Asn294Tyr) c.1690A>T (p.Asn564Tyr) c.*660A>T (n.*660A>T) c.1615A>T (p.Asn539Tyr) c.1165A>T (p.Asn389Tyr) n.1331A>T c.*656A>T (n.*656A>T) c.727A>T (p.Asn243Tyr) c.697A>T (p.Asn233Tyr) c.601A>T (p.Asn201Tyr) c.673A>T (p.Asn225Tyr) c.382A>T (p.Asn128Tyr) c.286A>T (p.Asn96Tyr) n.2233A>T n.1089A>T c.1363A>T (p.Asn455Tyr) c.1417A>T (p.Asn473Tyr) | dbSNP |
5 | g.68295270A>C | CA359883038 | PIK3R1 | c.791A>C (p.Asn264Thr) c.881A>C (p.Asn294Thr) c.1691A>C (p.Asn564Thr) c.*661A>C (n.*661A>C) c.1616A>C (p.Asn539Thr) c.1166A>C (p.Asn389Thr) n.1332A>C c.*657A>C (n.*657A>C) c.728A>C (p.Asn243Thr) c.698A>C (p.Asn233Thr) c.602A>C (p.Asn201Thr) c.674A>C (p.Asn225Thr) c.383A>C (p.Asn128Thr) c.287A>C (p.Asn96Thr) n.2234A>C n.1090A>C c.1364A>C (p.Asn455Thr) c.1418A>C (p.Asn473Thr) | |
5 | g.68295270A>G | CA359883040 | PIK3R1 | c.791A>G (p.Asn264Ser) c.881A>G (p.Asn294Ser) c.1691A>G (p.Asn564Ser) c.*661A>G (n.*661A>G) c.1616A>G (p.Asn539Ser) c.1166A>G (p.Asn389Ser) n.1332A>G c.*657A>G (n.*657A>G) c.728A>G (p.Asn243Ser) c.698A>G (p.Asn233Ser) c.602A>G (p.Asn201Ser) c.674A>G (p.Asn225Ser) c.383A>G (p.Asn128Ser) c.287A>G (p.Asn96Ser) n.2234A>G n.1090A>G c.1364A>G (p.Asn455Ser) c.1418A>G (p.Asn473Ser) | dbSNP |
5 | g.68295270A>T | CA359883039 | PIK3R1 | c.791A>T (p.Asn264Ile) c.881A>T (p.Asn294Ile) c.1691A>T (p.Asn564Ile) c.*661A>T (n.*661A>T) c.1616A>T (p.Asn539Ile) c.1166A>T (p.Asn389Ile) n.1332A>T c.*657A>T (n.*657A>T) c.728A>T (p.Asn243Ile) c.698A>T (p.Asn233Ile) c.602A>T (p.Asn201Ile) c.674A>T (p.Asn225Ile) c.383A>T (p.Asn128Ile) c.287A>T (p.Asn96Ile) n.2234A>T n.1090A>T c.1364A>T (p.Asn455Ile) c.1418A>T (p.Asn473Ile) | dbSNP |
5 | g.68295271C>A | CA16602528 | PIK3R1 | c.792C>A (p.Asn264Lys) c.882C>A (p.Asn294Lys) c.1692C>A (p.Asn564Lys) c.*662C>A (n.*662C>A) c.1617C>A (p.Asn539Lys) c.1167C>A (p.Asn389Lys) n.1333C>A c.*658C>A (n.*658C>A) c.729C>A (p.Asn243Lys) c.699C>A (p.Asn233Lys) c.603C>A (p.Asn201Lys) c.675C>A (p.Asn225Lys) c.384C>A (p.Asn128Lys) c.288C>A (p.Asn96Lys) n.2235C>A n.1091C>A c.1365C>A (p.Asn455Lys) c.1419C>A (p.Asn473Lys) | ClinVar dbSNP |
5 | g.68295271C= | CA1553406169 | PIK3R1 | c.792C= (p.Asn264=) c.882C= (p.Asn294=) c.1692C= (p.Asn564=) c.*662C= (n.*662C=) c.1617C= (p.Asn539=) c.1167C= (p.Asn389=) n.1333C= c.*658C= (n.*658C=) c.729C= (p.Asn243=) c.699C= (p.Asn233=) c.603C= (p.Asn201=) c.675C= (p.Asn225=) c.384C= (p.Asn128=) c.288C= (p.Asn96=) n.2235C= n.1091C= c.1365C= (p.Asn455=) c.1419C= (p.Asn473=) | |
5 | g.68295271C>G | CA16602529 | PIK3R1 | c.792C>G (p.Asn264Lys) c.882C>G (p.Asn294Lys) c.1692C>G (p.Asn564Lys) c.*662C>G (n.*662C>G) c.1617C>G (p.Asn539Lys) c.1167C>G (p.Asn389Lys) n.1333C>G c.*658C>G (n.*658C>G) c.729C>G (p.Asn243Lys) c.699C>G (p.Asn233Lys) c.603C>G (p.Asn201Lys) c.675C>G (p.Asn225Lys) c.384C>G (p.Asn128Lys) c.288C>G (p.Asn96Lys) n.2235C>G n.1091C>G c.1365C>G (p.Asn455Lys) c.1419C>G (p.Asn473Lys) | ClinVar dbSNP COSMIC COSMIC COSMIC |
5 | g.68295271C>T | CA3290460 | PIK3R1 | c.792C>T (p.Asn264=) c.882C>T (p.Asn294=) c.1692C>T (p.Asn564=) c.*662C>T (n.*662C>T) c.1617C>T (p.Asn539=) c.1167C>T (p.Asn389=) n.1333C>T c.*658C>T (n.*658C>T) c.729C>T (p.Asn243=) c.699C>T (p.Asn233=) c.603C>T (p.Asn201=) c.675C>T (p.Asn225=) c.384C>T (p.Asn128=) c.288C>T (p.Asn96=) n.2235C>T n.1091C>T c.1365C>T (p.Asn455=) c.1419C>T (p.Asn473=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.68295271_68295276del | CA2674090562 | PIK3R1 | c.792_797del (p.Ser265_Ile266del) c.882_887del (p.Ser295_Ile296del) c.1692_1697del (p.Ser565_Ile566del) c.*662_*667del (n.*662_*667del) c.1617_1622del (p.Ser540_Ile541del) c.1167_1172del (p.Ser390_Ile391del) n.1333_1338del c.*658_*663del (n.*658_*663del) c.729_734del (p.Ser244_Ile245del) c.699_704del (p.Ser234_Ile235del) c.603_608del (p.Ser202_Ile203del) c.675_680del (p.Ser226_Ile227del) c.384_389del (p.Ser129_Ile130del) c.288_293del (p.Ser97_Ile98del) n.2235_2240del n.1091_1096del c.1365_1370del (p.Ser456_Ile457del) c.1419_1424del (p.Ser474_Ile475del) | gnomAD v4 |
5 | g.68295272A>C | CA359883041 | PIK3R1 | c.793A>C (p.Ser265Arg) c.883A>C (p.Ser295Arg) c.1693A>C (p.Ser565Arg) c.*663A>C (n.*663A>C) c.1618A>C (p.Ser540Arg) c.1168A>C (p.Ser390Arg) n.1334A>C c.*659A>C (n.*659A>C) c.730A>C (p.Ser244Arg) c.700A>C (p.Ser234Arg) c.604A>C (p.Ser202Arg) c.676A>C (p.Ser226Arg) c.385A>C (p.Ser129Arg) c.289A>C (p.Ser97Arg) n.2236A>C n.1092A>C c.1366A>C (p.Ser456Arg) c.1420A>C (p.Ser474Arg) | |
5 | g.68295272A>G | CA359883042 | PIK3R1 | c.793A>G (p.Ser265Gly) c.883A>G (p.Ser295Gly) c.1693A>G (p.Ser565Gly) c.*663A>G (n.*663A>G) c.1618A>G (p.Ser540Gly) c.1168A>G (p.Ser390Gly) n.1334A>G c.*659A>G (n.*659A>G) c.730A>G (p.Ser244Gly) c.700A>G (p.Ser234Gly) c.604A>G (p.Ser202Gly) c.676A>G (p.Ser226Gly) c.385A>G (p.Ser129Gly) c.289A>G (p.Ser97Gly) n.2236A>G n.1092A>G c.1366A>G (p.Ser456Gly) c.1420A>G (p.Ser474Gly) | |
5 | g.68295272A>T | CA359883043 | PIK3R1 | c.793A>T (p.Ser265Cys) c.883A>T (p.Ser295Cys) c.1693A>T (p.Ser565Cys) c.*663A>T (n.*663A>T) c.1618A>T (p.Ser540Cys) c.1168A>T (p.Ser390Cys) n.1334A>T c.*659A>T (n.*659A>T) c.730A>T (p.Ser244Cys) c.700A>T (p.Ser234Cys) c.604A>T (p.Ser202Cys) c.676A>T (p.Ser226Cys) c.385A>T (p.Ser129Cys) c.289A>T (p.Ser97Cys) n.2236A>T n.1092A>T c.1366A>T (p.Ser456Cys) c.1420A>T (p.Ser474Cys) | dbSNP |
5 | g.68295273G>A | CA359883044 | PIK3R1 | c.794G>A (p.Ser265Asn) c.884G>A (p.Ser295Asn) c.1694G>A (p.Ser565Asn) c.*664G>A (n.*664G>A) c.1619G>A (p.Ser540Asn) c.1169G>A (p.Ser390Asn) n.1335G>A c.*660G>A (n.*660G>A) c.731G>A (p.Ser244Asn) c.701G>A (p.Ser234Asn) c.605G>A (p.Ser202Asn) c.677G>A (p.Ser226Asn) c.386G>A (p.Ser129Asn) c.290G>A (p.Ser97Asn) n.2237G>A n.1093G>A c.1367G>A (p.Ser456Asn) c.1421G>A (p.Ser474Asn) | dbSNP COSMIC COSMIC COSMIC |
5 | g.68295273G>C | CA359883045 | PIK3R1 | c.794G>C (p.Ser265Thr) c.884G>C (p.Ser295Thr) c.1694G>C (p.Ser565Thr) c.*664G>C (n.*664G>C) c.1619G>C (p.Ser540Thr) c.1169G>C (p.Ser390Thr) n.1335G>C c.*660G>C (n.*660G>C) c.731G>C (p.Ser244Thr) c.701G>C (p.Ser234Thr) c.605G>C (p.Ser202Thr) c.677G>C (p.Ser226Thr) c.386G>C (p.Ser129Thr) c.290G>C (p.Ser97Thr) n.2237G>C n.1093G>C c.1367G>C (p.Ser456Thr) c.1421G>C (p.Ser474Thr) | dbSNP |
5 | g.68295273G>T | CA359883046 | PIK3R1 | c.794G>T (p.Ser265Ile) c.884G>T (p.Ser295Ile) c.1694G>T (p.Ser565Ile) c.*664G>T (n.*664G>T) c.1619G>T (p.Ser540Ile) c.1169G>T (p.Ser390Ile) n.1335G>T c.*660G>T (n.*660G>T) c.731G>T (p.Ser244Ile) c.701G>T (p.Ser234Ile) c.605G>T (p.Ser202Ile) c.677G>T (p.Ser226Ile) c.386G>T (p.Ser129Ile) c.290G>T (p.Ser97Ile) n.2237G>T n.1093G>T c.1367G>T (p.Ser456Ile) c.1421G>T (p.Ser474Ile) | COSMIC COSMIC COSMIC |
5 | g.68295274C>A | CA359883047 | PIK3R1 | c.795C>A (p.Ser265Arg) c.885C>A (p.Ser295Arg) c.1695C>A (p.Ser565Arg) c.*665C>A (n.*665C>A) c.1620C>A (p.Ser540Arg) c.1170C>A (p.Ser390Arg) n.1336C>A c.*661C>A (n.*661C>A) c.732C>A (p.Ser244Arg) c.702C>A (p.Ser234Arg) c.606C>A (p.Ser202Arg) c.678C>A (p.Ser226Arg) c.387C>A (p.Ser129Arg) c.291C>A (p.Ser97Arg) n.2238C>A n.1094C>A c.1368C>A (p.Ser456Arg) c.1422C>A (p.Ser474Arg) | dbSNP COSMIC COSMIC COSMIC |
5 | g.68295274C= | CA1553406170 | PIK3R1 | c.795C= (p.Ser265=) c.885C= (p.Ser295=) c.1695C= (p.Ser565=) c.*665C= (n.*665C=) c.1620C= (p.Ser540=) c.1170C= (p.Ser390=) n.1336C= c.*661C= (n.*661C=) c.732C= (p.Ser244=) c.702C= (p.Ser234=) c.606C= (p.Ser202=) c.678C= (p.Ser226=) c.387C= (p.Ser129=) c.291C= (p.Ser97=) n.2238C= n.1094C= c.1368C= (p.Ser456=) c.1422C= (p.Ser474=) | |
5 | g.68295274C>G | CA359883048 | PIK3R1 | c.795C>G (p.Ser265Arg) c.885C>G (p.Ser295Arg) c.1695C>G (p.Ser565Arg) c.*665C>G (n.*665C>G) c.1620C>G (p.Ser540Arg) c.1170C>G (p.Ser390Arg) n.1336C>G c.*661C>G (n.*661C>G) c.732C>G (p.Ser244Arg) c.702C>G (p.Ser234Arg) c.606C>G (p.Ser202Arg) c.678C>G (p.Ser226Arg) c.387C>G (p.Ser129Arg) c.291C>G (p.Ser97Arg) n.2238C>G n.1094C>G c.1368C>G (p.Ser456Arg) c.1422C>G (p.Ser474Arg) | dbSNP COSMIC COSMIC COSMIC |
5 | g.68295274C>T | CA444672745 | PIK3R1 | c.795C>T (p.Ser265=) c.885C>T (p.Ser295=) c.1695C>T (p.Ser565=) c.*665C>T (n.*665C>T) c.1620C>T (p.Ser540=) c.1170C>T (p.Ser390=) n.1336C>T c.*661C>T (n.*661C>T) c.732C>T (p.Ser244=) c.702C>T (p.Ser234=) c.606C>T (p.Ser202=) c.678C>T (p.Ser226=) c.387C>T (p.Ser129=) c.291C>T (p.Ser97=) n.2238C>T n.1094C>T c.1368C>T (p.Ser456=) c.1422C>T (p.Ser474=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.68295275A>C | CA359883051 | PIK3R1 | c.796A>C (p.Ile266Leu) c.886A>C (p.Ile296Leu) c.1696A>C (p.Ile566Leu) c.*666A>C (n.*666A>C) c.1621A>C (p.Ile541Leu) c.1171A>C (p.Ile391Leu) n.1337A>C c.*662A>C (n.*662A>C) c.733A>C (p.Ile245Leu) c.703A>C (p.Ile235Leu) c.607A>C (p.Ile203Leu) c.679A>C (p.Ile227Leu) c.388A>C (p.Ile130Leu) c.292A>C (p.Ile98Leu) n.2239A>C n.1095A>C c.1369A>C (p.Ile457Leu) c.1423A>C (p.Ile475Leu) | |
5 | g.68295275A>G | CA359883050 | PIK3R1 | c.796A>G (p.Ile266Val) c.886A>G (p.Ile296Val) c.1696A>G (p.Ile566Val) c.*666A>G (n.*666A>G) c.1621A>G (p.Ile541Val) c.1171A>G (p.Ile391Val) n.1337A>G c.*662A>G (n.*662A>G) c.733A>G (p.Ile245Val) c.703A>G (p.Ile235Val) c.607A>G (p.Ile203Val) c.679A>G (p.Ile227Val) c.388A>G (p.Ile130Val) c.292A>G (p.Ile98Val) n.2239A>G n.1095A>G c.1369A>G (p.Ile457Val) c.1423A>G (p.Ile475Val) | gnomAD v4 |
5 | g.68295275A>T | CA359883049 | PIK3R1 | c.796A>T (p.Ile266Phe) c.886A>T (p.Ile296Phe) c.1696A>T (p.Ile566Phe) c.*666A>T (n.*666A>T) c.1621A>T (p.Ile541Phe) c.1171A>T (p.Ile391Phe) n.1337A>T c.*662A>T (n.*662A>T) c.733A>T (p.Ile245Phe) c.703A>T (p.Ile235Phe) c.607A>T (p.Ile203Phe) c.679A>T (p.Ile227Phe) c.388A>T (p.Ile130Phe) c.292A>T (p.Ile98Phe) n.2239A>T n.1095A>T c.1369A>T (p.Ile457Phe) c.1423A>T (p.Ile475Phe) | |
5 | g.68295276T>A | CA359883052 | PIK3R1 | c.797T>A (p.Ile266Asn) c.887T>A (p.Ile296Asn) c.1697T>A (p.Ile566Asn) c.*667T>A (n.*667T>A) c.1622T>A (p.Ile541Asn) c.1172T>A (p.Ile391Asn) n.1338T>A c.*663T>A (n.*663T>A) c.734T>A (p.Ile245Asn) c.704T>A (p.Ile235Asn) c.608T>A (p.Ile203Asn) c.680T>A (p.Ile227Asn) c.389T>A (p.Ile130Asn) c.293T>A (p.Ile98Asn) n.2240T>A n.1096T>A c.1370T>A (p.Ile457Asn) c.1424T>A (p.Ile475Asn) | dbSNP |
5 | g.68295276T>C | CA359883053 | PIK3R1 | c.797T>C (p.Ile266Thr) c.887T>C (p.Ile296Thr) c.1697T>C (p.Ile566Thr) c.*667T>C (n.*667T>C) c.1622T>C (p.Ile541Thr) c.1172T>C (p.Ile391Thr) n.1338T>C c.*663T>C (n.*663T>C) c.734T>C (p.Ile245Thr) c.704T>C (p.Ile235Thr) c.608T>C (p.Ile203Thr) c.680T>C (p.Ile227Thr) c.389T>C (p.Ile130Thr) c.293T>C (p.Ile98Thr) n.2240T>C n.1096T>C c.1370T>C (p.Ile457Thr) c.1424T>C (p.Ile475Thr) | |
5 | g.68295276T>G | CA359883054 | PIK3R1 | c.797T>G (p.Ile266Ser) c.887T>G (p.Ile296Ser) c.1697T>G (p.Ile566Ser) c.*667T>G (n.*667T>G) c.1622T>G (p.Ile541Ser) c.1172T>G (p.Ile391Ser) n.1338T>G c.*663T>G (n.*663T>G) c.734T>G (p.Ile245Ser) c.704T>G (p.Ile235Ser) c.608T>G (p.Ile203Ser) c.680T>G (p.Ile227Ser) c.389T>G (p.Ile130Ser) c.293T>G (p.Ile98Ser) n.2240T>G n.1096T>G c.1370T>G (p.Ile457Ser) c.1424T>G (p.Ile475Ser) | |
5 | g.68295277del | CA444672751 | PIK3R1 | c.798del (p.Lys267AsnfsTer7) c.888del (p.Lys297AsnfsTer7) c.1698del (p.Lys567AsnfsTer7) c.*668del (n.*668del) c.1623del (p.Lys542AsnfsTer7) c.1173del (p.Lys392AsnfsTer7) n.1339del c.*664del (n.*664del) c.735del (p.Lys246AsnfsTer7) c.705del (p.Lys236AsnfsTer7) c.609del (p.Lys204AsnfsTer7) c.681del (p.Lys228AsnfsTer7) c.390del (p.Lys131AsnfsTer7) c.294del (p.Lys99AsnfsTer7) n.2241del n.1097del c.1371del (p.Lys458AsnfsTer7) c.1425del (p.Lys476AsnfsTer7) | dbSNP COSMIC COSMIC COSMIC |
5 | g.68295279_68295290del | CA645556596 | PIK3R1 | c.800_811del (p.Lys267_Leu270del) c.890_901del (p.Lys297_Leu300del) c.1700_1711del (p.Lys567_Leu570del) c.*670_*681del (n.*670_*681del) c.1625_1636del (p.Lys542_Leu545del) c.1175_1186del (p.Lys392_Leu395del) n.1341_1352del c.*666_*677del (n.*666_*677del) c.737_748del (p.Lys246_Leu249del) c.707_718del (p.Lys236_Leu239del) c.611_622del (p.Lys204_Leu207del) c.683_694del (p.Lys228_Leu231del) c.392_403del (p.Lys131_Leu134del) c.296_307del (p.Lys99_Leu102del) n.2243_2254del n.1099_1110del c.1373_1384del (p.Lys458_Leu461del) c.1427_1438del (p.Lys476_Leu479del) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
5 | g.68295277T>A | CA444672752 | PIK3R1 | c.798T>A (p.Ile266=) c.888T>A (p.Ile296=) c.1698T>A (p.Ile566=) c.*668T>A (n.*668T>A) c.1623T>A (p.Ile541=) c.1173T>A (p.Ile391=) n.1339T>A c.*664T>A (n.*664T>A) c.735T>A (p.Ile245=) c.705T>A (p.Ile235=) c.609T>A (p.Ile203=) c.681T>A (p.Ile227=) c.390T>A (p.Ile130=) c.294T>A (p.Ile98=) n.2241T>A n.1097T>A c.1371T>A (p.Ile457=) c.1425T>A (p.Ile475=) | |
5 | g.68295277T>C | CA444672753 | PIK3R1 | c.798T>C (p.Ile266=) c.888T>C (p.Ile296=) c.1698T>C (p.Ile566=) c.*668T>C (n.*668T>C) c.1623T>C (p.Ile541=) c.1173T>C (p.Ile391=) n.1339T>C c.*664T>C (n.*664T>C) c.735T>C (p.Ile245=) c.705T>C (p.Ile235=) c.609T>C (p.Ile203=) c.681T>C (p.Ile227=) c.390T>C (p.Ile130=) c.294T>C (p.Ile98=) n.2241T>C n.1097T>C c.1371T>C (p.Ile457=) c.1425T>C (p.Ile475=) | |
5 | g.68295277T>G | CA359883055 | PIK3R1 | c.798T>G (p.Ile266Met) c.888T>G (p.Ile296Met) c.1698T>G (p.Ile566Met) c.*668T>G (n.*668T>G) c.1623T>G (p.Ile541Met) c.1173T>G (p.Ile391Met) n.1339T>G c.*664T>G (n.*664T>G) c.735T>G (p.Ile245Met) c.705T>G (p.Ile235Met) c.609T>G (p.Ile203Met) c.681T>G (p.Ile227Met) c.390T>G (p.Ile130Met) c.294T>G (p.Ile98Met) n.2241T>G n.1097T>G c.1371T>G (p.Ile457Met) c.1425T>G (p.Ile475Met) | |
5 | g.68295277_68295279del | CA645556597 | PIK3R1 | c.798_800del (p.Lys267del) c.888_890del (p.Lys297del) c.1698_1700del (p.Lys567del) c.*668_*670del (n.*668_*670del) c.1623_1625del (p.Lys542del) c.1173_1175del (p.Lys392del) n.1339_1341del c.*664_*666del (n.*664_*666del) c.735_737del (p.Lys246del) c.705_707del (p.Lys236del) c.609_611del (p.Lys204del) c.681_683del (p.Lys228del) c.390_392del (p.Lys131del) c.294_296del (p.Lys99del) n.2241_2243del n.1097_1099del c.1371_1373del (p.Lys458del) c.1425_1427del (p.Lys476del) | COSMIC COSMIC COSMIC |
5 | g.68295278A= | CA1553406171 | PIK3R1 | c.799A= (p.Lys267=) c.889A= (p.Lys297=) c.1699A= (p.Lys567=) c.*669A= (n.*669A=) c.1624A= (p.Lys542=) c.1174A= (p.Lys392=) n.1340A= c.*665A= (n.*665A=) c.736A= (p.Lys246=) c.706A= (p.Lys236=) c.610A= (p.Lys204=) c.682A= (p.Lys228=) c.391A= (p.Lys131=) c.295A= (p.Lys99=) n.2242A= n.1098A= c.1372A= (p.Lys458=) c.1426A= (p.Lys476=) | |
5 | g.68295278A>C | CA359883056 | PIK3R1 | c.799A>C (p.Lys267Gln) c.889A>C (p.Lys297Gln) c.1699A>C (p.Lys567Gln) c.*669A>C (n.*669A>C) c.1624A>C (p.Lys542Gln) c.1174A>C (p.Lys392Gln) n.1340A>C c.*665A>C (n.*665A>C) c.736A>C (p.Lys246Gln) c.706A>C (p.Lys236Gln) c.610A>C (p.Lys204Gln) c.682A>C (p.Lys228Gln) c.391A>C (p.Lys131Gln) c.295A>C (p.Lys99Gln) n.2242A>C n.1098A>C c.1372A>C (p.Lys458Gln) c.1426A>C (p.Lys476Gln) | |
5 | g.68295278A>G | CA359883057 | PIK3R1 | c.799A>G (p.Lys267Glu) c.889A>G (p.Lys297Glu) c.1699A>G (p.Lys567Glu) c.*669A>G (n.*669A>G) c.1624A>G (p.Lys542Glu) c.1174A>G (p.Lys392Glu) n.1340A>G c.*665A>G (n.*665A>G) c.736A>G (p.Lys246Glu) c.706A>G (p.Lys236Glu) c.610A>G (p.Lys204Glu) c.682A>G (p.Lys228Glu) c.391A>G (p.Lys131Glu) c.295A>G (p.Lys99Glu) n.2242A>G n.1098A>G c.1372A>G (p.Lys458Glu) c.1426A>G (p.Lys476Glu) | ClinVar dbSNP COSMIC COSMIC COSMIC |
5 | g.68295278A>T | CA359883058 | PIK3R1 | c.799A>T (p.Lys267Ter) c.889A>T (p.Lys297Ter) c.1699A>T (p.Lys567Ter) c.*669A>T (n.*669A>T) c.1624A>T (p.Lys542Ter) c.1174A>T (p.Lys392Ter) n.1340A>T c.*665A>T (n.*665A>T) c.736A>T (p.Lys246Ter) c.706A>T (p.Lys236Ter) c.610A>T (p.Lys204Ter) c.682A>T (p.Lys228Ter) c.391A>T (p.Lys131Ter) c.295A>T (p.Lys99Ter) n.2242A>T n.1098A>T c.1372A>T (p.Lys458Ter) c.1426A>T (p.Lys476Ter) | dbSNP |
5 | g.68295280dup | CA444672754 | PIK3R1 | c.801dup (p.Pro268ThrfsTer?) c.891dup (p.Pro298ThrfsTer?) c.1701dup (p.Pro568ThrfsTer?) c.*671dup (n.*671dup) c.1626dup (p.Pro543ThrfsTer?) c.1176dup (p.Pro393ThrfsTer?) n.1342dup c.*667dup (n.*667dup) c.738dup (p.Pro247ThrfsTer?) c.708dup (p.Pro237ThrfsTer?) c.612dup (p.Pro205ThrfsTer?) c.684dup (p.Pro229ThrfsTer?) c.393dup (p.Pro132ThrfsTer?) c.297dup (p.Pro100ThrfsTer?) n.2244dup n.1100dup c.1374dup (p.Pro459ThrfsTer?) c.1428dup (p.Pro477ThrfsTer?) | COSMIC COSMIC COSMIC |
5 | g.68295280del | CA2709240201 | PIK3R1 | c.801del (p.Lys267AsnfsTer7) c.891del (p.Lys297AsnfsTer7) c.1701del (p.Lys567AsnfsTer7) c.*671del (n.*671del) c.1626del (p.Lys542AsnfsTer7) c.1176del (p.Lys392AsnfsTer7) n.1342del c.*667del (n.*667del) c.738del (p.Lys246AsnfsTer7) c.708del (p.Lys236AsnfsTer7) c.612del (p.Lys204AsnfsTer7) c.684del (p.Lys228AsnfsTer7) c.393del (p.Lys131AsnfsTer7) c.297del (p.Lys99AsnfsTer7) n.2244del n.1100del c.1374del (p.Lys458AsnfsTer7) c.1428del (p.Lys476AsnfsTer7) | dbSNP |
5 | g.68295279A>C | CA359883059 | PIK3R1 | c.800A>C (p.Lys267Thr) c.890A>C (p.Lys297Thr) c.1700A>C (p.Lys567Thr) c.*670A>C (n.*670A>C) c.1625A>C (p.Lys542Thr) c.1175A>C (p.Lys392Thr) n.1341A>C c.*666A>C (n.*666A>C) c.737A>C (p.Lys246Thr) c.707A>C (p.Lys236Thr) c.611A>C (p.Lys204Thr) c.683A>C (p.Lys228Thr) c.392A>C (p.Lys131Thr) c.296A>C (p.Lys99Thr) n.2243A>C n.1099A>C c.1373A>C (p.Lys458Thr) c.1427A>C (p.Lys476Thr) | |
5 | g.68295279A>G | CA359883060 | PIK3R1 | c.800A>G (p.Lys267Arg) c.890A>G (p.Lys297Arg) c.1700A>G (p.Lys567Arg) c.*670A>G (n.*670A>G) c.1625A>G (p.Lys542Arg) c.1175A>G (p.Lys392Arg) n.1341A>G c.*666A>G (n.*666A>G) c.737A>G (p.Lys246Arg) c.707A>G (p.Lys236Arg) c.611A>G (p.Lys204Arg) c.683A>G (p.Lys228Arg) c.392A>G (p.Lys131Arg) c.296A>G (p.Lys99Arg) n.2243A>G n.1099A>G c.1373A>G (p.Lys458Arg) c.1427A>G (p.Lys476Arg) | |
5 | g.68295279A>T | CA359883061 | PIK3R1 | c.800A>T (p.Lys267Ile) c.890A>T (p.Lys297Ile) c.1700A>T (p.Lys567Ile) c.*670A>T (n.*670A>T) c.1625A>T (p.Lys542Ile) c.1175A>T (p.Lys392Ile) n.1341A>T c.*666A>T (n.*666A>T) c.737A>T (p.Lys246Ile) c.707A>T (p.Lys236Ile) c.611A>T (p.Lys204Ile) c.683A>T (p.Lys228Ile) c.392A>T (p.Lys131Ile) c.296A>T (p.Lys99Ile) n.2243A>T n.1099A>T c.1373A>T (p.Lys458Ile) c.1427A>T (p.Lys476Ile) | dbSNP |
5 | g.68295280_68295290del | CA645556598 | PIK3R1 | c.801_811del (p.Lys267AsnfsTer?) c.891_901del (p.Lys297AsnfsTer?) c.1701_1711del (p.Lys567AsnfsTer?) c.*671_*681del (n.*671_*681del) c.1626_1636del (p.Lys542AsnfsTer?) c.1176_1186del (p.Lys392AsnfsTer?) n.1342_1352del c.*667_*677del (n.*667_*677del) c.738_748del (p.Lys246AsnfsTer?) c.708_718del (p.Lys236AsnfsTer?) c.612_622del (p.Lys204AsnfsTer?) c.684_694del (p.Lys228AsnfsTer?) c.393_403del (p.Lys131AsnfsTer?) c.297_307del (p.Lys99AsnfsTer?) n.2244_2254del n.1100_1110del c.1374_1384del (p.Lys458AsnfsTer?) c.1428_1438del (p.Lys476AsnfsTer?) | COSMIC COSMIC COSMIC |
5 | g.68295280A>C | CA359883062 | PIK3R1 | c.801A>C (p.Lys267Asn) c.891A>C (p.Lys297Asn) c.1701A>C (p.Lys567Asn) c.*671A>C (n.*671A>C) c.1626A>C (p.Lys542Asn) c.1176A>C (p.Lys392Asn) n.1342A>C c.*667A>C (n.*667A>C) c.738A>C (p.Lys246Asn) c.708A>C (p.Lys236Asn) c.612A>C (p.Lys204Asn) c.684A>C (p.Lys228Asn) c.393A>C (p.Lys131Asn) c.297A>C (p.Lys99Asn) n.2244A>C n.1100A>C c.1374A>C (p.Lys458Asn) c.1428A>C (p.Lys476Asn) | |
5 | g.68295280A>G | CA444672759 | PIK3R1 | c.801A>G (p.Lys267=) c.891A>G (p.Lys297=) c.1701A>G (p.Lys567=) c.*671A>G (n.*671A>G) c.1626A>G (p.Lys542=) c.1176A>G (p.Lys392=) n.1342A>G c.*667A>G (n.*667A>G) c.738A>G (p.Lys246=) c.708A>G (p.Lys236=) c.612A>G (p.Lys204=) c.684A>G (p.Lys228=) c.393A>G (p.Lys131=) c.297A>G (p.Lys99=) n.2244A>G n.1100A>G c.1374A>G (p.Lys458=) c.1428A>G (p.Lys476=) | |
5 | g.68295280A>T | CA359883063 | PIK3R1 | c.801A>T (p.Lys267Asn) c.891A>T (p.Lys297Asn) c.1701A>T (p.Lys567Asn) c.*671A>T (n.*671A>T) c.1626A>T (p.Lys542Asn) c.1176A>T (p.Lys392Asn) n.1342A>T c.*667A>T (n.*667A>T) c.738A>T (p.Lys246Asn) c.708A>T (p.Lys236Asn) c.612A>T (p.Lys204Asn) c.684A>T (p.Lys228Asn) c.393A>T (p.Lys131Asn) c.297A>T (p.Lys99Asn) n.2244A>T n.1100A>T c.1374A>T (p.Lys458Asn) c.1428A>T (p.Lys476Asn) | dbSNP |
5 | g.68295280_68295306del | CA645556600 | PIK3R1 | c.801_827del (p.Pro268_Thr276del) c.891_917del (p.Pro298_Thr306del) c.1701_1727del (p.Pro568_Thr576del) c.*671_*697del (n.*671_*697del) c.1626_1652del (p.Pro543_Thr551del) c.1176_1202del (p.Pro393_Thr401del) n.1342_1368del c.*667_*693del (n.*667_*693del) c.738_764del (p.Pro247_Thr255del) c.708_734del (p.Pro237_Thr245del) c.612_638del (p.Pro205_Thr213del) c.684_710del (p.Pro229_Thr237del) c.393_419del (p.Pro132_Thr140del) c.297_323del (p.Pro100_Thr108del) n.2244_2270del n.1100_1126del c.1374_1400del (p.Pro459_Thr467del) c.1428_1454del (p.Pro477_Thr485del) | COSMIC |
5 | g.68295281C>A | CA359883065 | PIK3R1 | c.802C>A (p.Pro268Thr) c.892C>A (p.Pro298Thr) c.1702C>A (p.Pro568Thr) c.*672C>A (n.*672C>A) c.1627C>A (p.Pro543Thr) c.1177C>A (p.Pro393Thr) n.1343C>A c.*668C>A (n.*668C>A) c.739C>A (p.Pro247Thr) c.709C>A (p.Pro237Thr) c.613C>A (p.Pro205Thr) c.685C>A (p.Pro229Thr) c.394C>A (p.Pro132Thr) c.298C>A (p.Pro100Thr) n.2245C>A n.1101C>A c.1375C>A (p.Pro459Thr) c.1429C>A (p.Pro477Thr) | dbSNP COSMIC COSMIC COSMIC |
5 | g.68295281C>G | CA359883066 | PIK3R1 | c.802C>G (p.Pro268Ala) c.892C>G (p.Pro298Ala) c.1702C>G (p.Pro568Ala) c.*672C>G (n.*672C>G) c.1627C>G (p.Pro543Ala) c.1177C>G (p.Pro393Ala) n.1343C>G c.*668C>G (n.*668C>G) c.739C>G (p.Pro247Ala) c.709C>G (p.Pro237Ala) c.613C>G (p.Pro205Ala) c.685C>G (p.Pro229Ala) c.394C>G (p.Pro132Ala) c.298C>G (p.Pro100Ala) n.2245C>G n.1101C>G c.1375C>G (p.Pro459Ala) c.1429C>G (p.Pro477Ala) | dbSNP |
5 | g.68295281C>T | CA359883064 | PIK3R1 | c.802C>T (p.Pro268Ser) c.892C>T (p.Pro298Ser) c.1702C>T (p.Pro568Ser) c.*672C>T (n.*672C>T) c.1627C>T (p.Pro543Ser) c.1177C>T (p.Pro393Ser) n.1343C>T c.*668C>T (n.*668C>T) c.739C>T (p.Pro247Ser) c.709C>T (p.Pro237Ser) c.613C>T (p.Pro205Ser) c.685C>T (p.Pro229Ser) c.394C>T (p.Pro132Ser) c.298C>T (p.Pro100Ser) n.2245C>T n.1101C>T c.1375C>T (p.Pro459Ser) c.1429C>T (p.Pro477Ser) | dbSNP |
5 | g.68295282_68295287dup | CA645556601 | PIK3R1 | c.803_808dup (p.Asp269_Leu270insProAsp) c.893_898dup (p.Asp299_Leu300insProAsp) c.1703_1708dup (p.Asp569_Leu570insProAsp) c.*673_*678dup (n.*673_*678dup) c.1628_1633dup (p.Asp544_Leu545insProAsp) c.1178_1183dup (p.Asp394_Leu395insProAsp) n.1344_1349dup c.*669_*674dup (n.*669_*674dup) c.740_745dup (p.Asp248_Leu249insProAsp) c.710_715dup (p.Asp238_Leu239insProAsp) c.614_619dup (p.Asp206_Leu207insProAsp) c.686_691dup (p.Asp230_Leu231insProAsp) c.395_400dup (p.Asp133_Leu134insProAsp) c.299_304dup (p.Asp101_Leu102insProAsp) n.2246_2251dup n.1102_1107dup c.1376_1381dup (p.Asp460_Leu461insProAsp) c.1430_1435dup (p.Asp478_Leu479insProAsp) | COSMIC |
5 | g.68295282C>A | CA359883069 | PIK3R1 | c.803C>A (p.Pro268Gln) c.893C>A (p.Pro298Gln) c.1703C>A (p.Pro568Gln) c.*673C>A (n.*673C>A) c.1628C>A (p.Pro543Gln) c.1178C>A (p.Pro393Gln) n.1344C>A c.*669C>A (n.*669C>A) c.740C>A (p.Pro247Gln) c.710C>A (p.Pro237Gln) c.614C>A (p.Pro205Gln) c.686C>A (p.Pro229Gln) c.395C>A (p.Pro132Gln) c.299C>A (p.Pro100Gln) n.2246C>A n.1102C>A c.1376C>A (p.Pro459Gln) c.1430C>A (p.Pro477Gln) | ClinVar dbSNP |
5 | g.68295282C>G | CA359883067 | PIK3R1 | c.803C>G (p.Pro268Arg) c.893C>G (p.Pro298Arg) c.1703C>G (p.Pro568Arg) c.*673C>G (n.*673C>G) c.1628C>G (p.Pro543Arg) c.1178C>G (p.Pro393Arg) n.1344C>G c.*669C>G (n.*669C>G) c.740C>G (p.Pro247Arg) c.710C>G (p.Pro237Arg) c.614C>G (p.Pro205Arg) c.686C>G (p.Pro229Arg) c.395C>G (p.Pro132Arg) c.299C>G (p.Pro100Arg) n.2246C>G n.1102C>G c.1376C>G (p.Pro459Arg) c.1430C>G (p.Pro477Arg) | COSMIC COSMIC COSMIC |
5 | g.68295282C>T | CA359883068 | PIK3R1 | c.803C>T (p.Pro268Leu) c.893C>T (p.Pro298Leu) c.1703C>T (p.Pro568Leu) c.*673C>T (n.*673C>T) c.1628C>T (p.Pro543Leu) c.1178C>T (p.Pro393Leu) n.1344C>T c.*669C>T (n.*669C>T) c.740C>T (p.Pro247Leu) c.710C>T (p.Pro237Leu) c.614C>T (p.Pro205Leu) c.686C>T (p.Pro229Leu) c.395C>T (p.Pro132Leu) c.299C>T (p.Pro100Leu) n.2246C>T n.1102C>T c.1376C>T (p.Pro459Leu) c.1430C>T (p.Pro477Leu) | dbSNP |
5 | g.68295283A= | CA1553406172 | PIK3R1 | c.804A= (p.Pro268=) c.894A= (p.Pro298=) c.1704A= (p.Pro568=) c.*674A= (n.*674A=) c.1629A= (p.Pro543=) c.1179A= (p.Pro393=) n.1345A= c.*670A= (n.*670A=) c.741A= (p.Pro247=) c.711A= (p.Pro237=) c.615A= (p.Pro205=) c.687A= (p.Pro229=) c.396A= (p.Pro132=) c.300A= (p.Pro100=) n.2247A= n.1103A= c.1377A= (p.Pro459=) c.1431A= (p.Pro477=) | |
5 | g.68295283A>C | CA444672766 | PIK3R1 | c.804A>C (p.Pro268=) c.894A>C (p.Pro298=) c.1704A>C (p.Pro568=) c.*674A>C (n.*674A>C) c.1629A>C (p.Pro543=) c.1179A>C (p.Pro393=) n.1345A>C c.*670A>C (n.*670A>C) c.741A>C (p.Pro247=) c.711A>C (p.Pro237=) c.615A>C (p.Pro205=) c.687A>C (p.Pro229=) c.396A>C (p.Pro132=) c.300A>C (p.Pro100=) n.2247A>C n.1103A>C c.1377A>C (p.Pro459=) c.1431A>C (p.Pro477=) | |
5 | g.68295283A>G | CA444672770 | PIK3R1 | c.804A>G (p.Pro268=) c.894A>G (p.Pro298=) c.1704A>G (p.Pro568=) c.*674A>G (n.*674A>G) c.1629A>G (p.Pro543=) c.1179A>G (p.Pro393=) n.1345A>G c.*670A>G (n.*670A>G) c.741A>G (p.Pro247=) c.711A>G (p.Pro237=) c.615A>G (p.Pro205=) c.687A>G (p.Pro229=) c.396A>G (p.Pro132=) c.300A>G (p.Pro100=) n.2247A>G n.1103A>G c.1377A>G (p.Pro459=) c.1431A>G (p.Pro477=) | |
5 | g.68295283A>T | CA444672771 | PIK3R1 | c.804A>T (p.Pro268=) c.894A>T (p.Pro298=) c.1704A>T (p.Pro568=) c.*674A>T (n.*674A>T) c.1629A>T (p.Pro543=) c.1179A>T (p.Pro393=) n.1345A>T c.*670A>T (n.*670A>T) c.741A>T (p.Pro247=) c.711A>T (p.Pro237=) c.615A>T (p.Pro205=) c.687A>T (p.Pro229=) c.396A>T (p.Pro132=) c.300A>T (p.Pro100=) n.2247A>T n.1103A>T c.1377A>T (p.Pro459=) c.1431A>T (p.Pro477=) | ClinVar dbSNP |
5 | g.68295288_68295314del | CA645556602 | PIK3R1 | c.809_835del (p.Leu270_Asp278del) c.899_925del (p.Leu300_Asp308del) c.1709_1735del (p.Leu570_Asp578del) c.*679_*705del (n.*679_*705del) c.1634_1660del (p.Leu545_Asp553del) c.1184_1210del (p.Leu395_Asp403del) n.1350_1376del c.*675_*701del (n.*675_*701del) c.746_772del (p.Leu249_Asp257del) c.716_742del (p.Leu239_Asp247del) c.620_646del (p.Leu207_Asp215del) c.692_718del (p.Leu231_Asp239del) c.401_427del (p.Leu134_Asp142del) c.305_331del (p.Leu102_Asp110del) n.2252_2278del n.1108_1134del c.1382_1408del (p.Leu461_Asp469del) c.1436_1462del (p.Leu479_Asp487del) | COSMIC COSMIC COSMIC COSMIC |
5 | g.68295284G>A | CA359883070 | PIK3R1 | c.805G>A (p.Asp269Asn) c.895G>A (p.Asp299Asn) c.1705G>A (p.Asp569Asn) c.*675G>A (n.*675G>A) c.1630G>A (p.Asp544Asn) c.1180G>A (p.Asp394Asn) n.1346G>A c.*671G>A (n.*671G>A) c.742G>A (p.Asp248Asn) c.712G>A (p.Asp238Asn) c.616G>A (p.Asp206Asn) c.688G>A (p.Asp230Asn) c.397G>A (p.Asp133Asn) c.301G>A (p.Asp101Asn) n.2248G>A n.1104G>A c.1378G>A (p.Asp460Asn) c.1432G>A (p.Asp478Asn) | |
5 | g.68295284G>C | CA359883071 | PIK3R1 | c.805G>C (p.Asp269His) c.895G>C (p.Asp299His) c.1705G>C (p.Asp569His) c.*675G>C (n.*675G>C) c.1630G>C (p.Asp544His) c.1180G>C (p.Asp394His) n.1346G>C c.*671G>C (n.*671G>C) c.742G>C (p.Asp248His) c.712G>C (p.Asp238His) c.616G>C (p.Asp206His) c.688G>C (p.Asp230His) c.397G>C (p.Asp133His) c.301G>C (p.Asp101His) n.2248G>C n.1104G>C c.1378G>C (p.Asp460His) c.1432G>C (p.Asp478His) | |
5 | g.68295284G>T | CA359883072 | PIK3R1 | c.805G>T (p.Asp269Tyr) c.895G>T (p.Asp299Tyr) c.1705G>T (p.Asp569Tyr) c.*675G>T (n.*675G>T) c.1630G>T (p.Asp544Tyr) c.1180G>T (p.Asp394Tyr) n.1346G>T c.*671G>T (n.*671G>T) c.742G>T (p.Asp248Tyr) c.712G>T (p.Asp238Tyr) c.616G>T (p.Asp206Tyr) c.688G>T (p.Asp230Tyr) c.397G>T (p.Asp133Tyr) c.301G>T (p.Asp101Tyr) n.2248G>T n.1104G>T c.1378G>T (p.Asp460Tyr) c.1432G>T (p.Asp478Tyr) | |
5 | g.68295284_68295286dup | CA645556603 | PIK3R1 | c.805_807dup (p.Asp269_Leu270insAsp) c.895_897dup (p.Asp299_Leu300insAsp) c.1705_1707dup (p.Asp569_Leu570insAsp) c.*675_*677dup (n.*675_*677dup) c.1630_1632dup (p.Asp544_Leu545insAsp) c.1180_1182dup (p.Asp394_Leu395insAsp) n.1346_1348dup c.*671_*673dup (n.*671_*673dup) c.742_744dup (p.Asp248_Leu249insAsp) c.712_714dup (p.Asp238_Leu239insAsp) c.616_618dup (p.Asp206_Leu207insAsp) c.688_690dup (p.Asp230_Leu231insAsp) c.397_399dup (p.Asp133_Leu134insAsp) c.301_303dup (p.Asp101_Leu102insAsp) n.2248_2250dup n.1104_1106dup c.1378_1380dup (p.Asp460_Leu461insAsp) c.1432_1434dup (p.Asp478_Leu479insAsp) | COSMIC COSMIC |
5 | g.68295285A>C | CA359883073 | PIK3R1 | c.806A>C (p.Asp269Ala) c.896A>C (p.Asp299Ala) c.1706A>C (p.Asp569Ala) c.*676A>C (n.*676A>C) c.1631A>C (p.Asp544Ala) c.1181A>C (p.Asp394Ala) n.1347A>C c.*672A>C (n.*672A>C) c.743A>C (p.Asp248Ala) c.713A>C (p.Asp238Ala) c.617A>C (p.Asp206Ala) c.689A>C (p.Asp230Ala) c.398A>C (p.Asp133Ala) c.302A>C (p.Asp101Ala) n.2249A>C n.1105A>C c.1379A>C (p.Asp460Ala) c.1433A>C (p.Asp478Ala) | |
5 | g.68295285A>G | CA359883074 | PIK3R1 | c.806A>G (p.Asp269Gly) c.896A>G (p.Asp299Gly) c.1706A>G (p.Asp569Gly) c.*676A>G (n.*676A>G) c.1631A>G (p.Asp544Gly) c.1181A>G (p.Asp394Gly) n.1347A>G c.*672A>G (n.*672A>G) c.743A>G (p.Asp248Gly) c.713A>G (p.Asp238Gly) c.617A>G (p.Asp206Gly) c.689A>G (p.Asp230Gly) c.398A>G (p.Asp133Gly) c.302A>G (p.Asp101Gly) n.2249A>G n.1105A>G c.1379A>G (p.Asp460Gly) c.1433A>G (p.Asp478Gly) | |
5 | g.68295285A>T | CA359883075 | PIK3R1 | c.806A>T (p.Asp269Val) c.896A>T (p.Asp299Val) c.1706A>T (p.Asp569Val) c.*676A>T (n.*676A>T) c.1631A>T (p.Asp544Val) c.1181A>T (p.Asp394Val) n.1347A>T c.*672A>T (n.*672A>T) c.743A>T (p.Asp248Val) c.713A>T (p.Asp238Val) c.617A>T (p.Asp206Val) c.689A>T (p.Asp230Val) c.398A>T (p.Asp133Val) c.302A>T (p.Asp101Val) n.2249A>T n.1105A>T c.1379A>T (p.Asp460Val) c.1433A>T (p.Asp478Val) | dbSNP |
5 | g.68295285_68295287del | CA645556604 | PIK3R1 | c.806_808del (p.Asp269_Leu270delinsVal) c.896_898del (p.Asp299_Leu300delinsVal) c.1706_1708del (p.Asp569_Leu570delinsVal) c.*676_*678del (n.*676_*678del) c.1631_1633del (p.Asp544_Leu545delinsVal) c.1181_1183del (p.Asp394_Leu395delinsVal) n.1347_1349del c.*672_*674del (n.*672_*674del) c.743_745del (p.Asp248_Leu249delinsVal) c.713_715del (p.Asp238_Leu239delinsVal) c.617_619del (p.Asp206_Leu207delinsVal) c.689_691del (p.Asp230_Leu231delinsVal) c.398_400del (p.Asp133_Leu134delinsVal) c.302_304del (p.Asp101_Leu102delinsVal) n.2249_2251del n.1105_1107del c.1379_1381del (p.Asp460_Leu461delinsVal) c.1433_1435del (p.Asp478_Leu479delinsVal) | COSMIC COSMIC COSMIC |
5 | g.68295286C>A | CA359883076 | PIK3R1 | c.807C>A (p.Asp269Glu) c.897C>A (p.Asp299Glu) c.1707C>A (p.Asp569Glu) c.*677C>A (n.*677C>A) c.1632C>A (p.Asp544Glu) c.1182C>A (p.Asp394Glu) n.1348C>A c.*673C>A (n.*673C>A) c.744C>A (p.Asp248Glu) c.714C>A (p.Asp238Glu) c.618C>A (p.Asp206Glu) c.690C>A (p.Asp230Glu) c.399C>A (p.Asp133Glu) c.303C>A (p.Asp101Glu) n.2250C>A n.1106C>A c.1380C>A (p.Asp460Glu) c.1434C>A (p.Asp478Glu) | dbSNP |
5 | g.68295286C>G | CA359883077 | PIK3R1 | c.807C>G (p.Asp269Glu) c.897C>G (p.Asp299Glu) c.1707C>G (p.Asp569Glu) c.*677C>G (n.*677C>G) c.1632C>G (p.Asp544Glu) c.1182C>G (p.Asp394Glu) n.1348C>G c.*673C>G (n.*673C>G) c.744C>G (p.Asp248Glu) c.714C>G (p.Asp238Glu) c.618C>G (p.Asp206Glu) c.690C>G (p.Asp230Glu) c.399C>G (p.Asp133Glu) c.303C>G (p.Asp101Glu) n.2250C>G n.1106C>G c.1380C>G (p.Asp460Glu) c.1434C>G (p.Asp478Glu) | dbSNP |
5 | g.68295286C>T | CA444672778 | PIK3R1 | c.807C>T (p.Asp269=) c.897C>T (p.Asp299=) c.1707C>T (p.Asp569=) c.*677C>T (n.*677C>T) c.1632C>T (p.Asp544=) c.1182C>T (p.Asp394=) n.1348C>T c.*673C>T (n.*673C>T) c.744C>T (p.Asp248=) c.714C>T (p.Asp238=) c.618C>T (p.Asp206=) c.690C>T (p.Asp230=) c.399C>T (p.Asp133=) c.303C>T (p.Asp101=) n.2250C>T n.1106C>T c.1380C>T (p.Asp460=) c.1434C>T (p.Asp478=) | gnomAD v4 |
5 | g.68295287dup | CA2831038909 | PIK3R1 | c.808dup (p.Leu270ProfsTer?) c.898dup (p.Leu300ProfsTer?) c.1708dup (p.Leu570ProfsTer?) c.*678dup (n.*678dup) c.1633dup (p.Leu545ProfsTer?) c.1183dup (p.Leu395ProfsTer?) n.1349dup c.*674dup (n.*674dup) c.745dup (p.Leu249ProfsTer?) c.715dup (p.Leu239ProfsTer?) c.619dup (p.Leu207ProfsTer?) c.691dup (p.Leu231ProfsTer?) c.400dup (p.Leu134ProfsTer?) c.304dup (p.Leu102ProfsTer?) n.2251dup n.1107dup c.1381dup (p.Leu461ProfsTer?) c.1435dup (p.Leu479ProfsTer?) | |
5 | g.68295287C>A | CA359883078 | PIK3R1 | c.808C>A (p.Leu270Ile) c.898C>A (p.Leu300Ile) c.1708C>A (p.Leu570Ile) c.*678C>A (n.*678C>A) c.1633C>A (p.Leu545Ile) c.1183C>A (p.Leu395Ile) n.1349C>A c.*674C>A (n.*674C>A) c.745C>A (p.Leu249Ile) c.715C>A (p.Leu239Ile) c.619C>A (p.Leu207Ile) c.691C>A (p.Leu231Ile) c.400C>A (p.Leu134Ile) c.304C>A (p.Leu102Ile) n.2251C>A n.1107C>A c.1381C>A (p.Leu461Ile) c.1435C>A (p.Leu479Ile) | |
5 | g.68295287C= | CA1553406173 | PIK3R1 | c.808C= (p.Leu270=) c.898C= (p.Leu300=) c.1708C= (p.Leu570=) c.*678C= (n.*678C=) c.1633C= (p.Leu545=) c.1183C= (p.Leu395=) n.1349C= c.*674C= (n.*674C=) c.745C= (p.Leu249=) c.715C= (p.Leu239=) c.619C= (p.Leu207=) c.691C= (p.Leu231=) c.400C= (p.Leu134=) c.304C= (p.Leu102=) n.2251C= n.1107C= c.1381C= (p.Leu461=) c.1435C= (p.Leu479=) | |
5 | g.68295287C>G | CA359883079 | PIK3R1 | c.808C>G (p.Leu270Val) c.898C>G (p.Leu300Val) c.1708C>G (p.Leu570Val) c.*678C>G (n.*678C>G) c.1633C>G (p.Leu545Val) c.1183C>G (p.Leu395Val) n.1349C>G c.*674C>G (n.*674C>G) c.745C>G (p.Leu249Val) c.715C>G (p.Leu239Val) c.619C>G (p.Leu207Val) c.691C>G (p.Leu231Val) c.400C>G (p.Leu134Val) c.304C>G (p.Leu102Val) n.2251C>G n.1107C>G c.1381C>G (p.Leu461Val) c.1435C>G (p.Leu479Val) | |
5 | g.68295287C>T | CA359883080 | PIK3R1 | c.808C>T (p.Leu270Phe) c.898C>T (p.Leu300Phe) c.1708C>T (p.Leu570Phe) c.*678C>T (n.*678C>T) c.1633C>T (p.Leu545Phe) c.1183C>T (p.Leu395Phe) n.1349C>T c.*674C>T (n.*674C>T) c.745C>T (p.Leu249Phe) c.715C>T (p.Leu239Phe) c.619C>T (p.Leu207Phe) c.691C>T (p.Leu231Phe) c.400C>T (p.Leu134Phe) c.304C>T (p.Leu102Phe) n.2251C>T n.1107C>T c.1381C>T (p.Leu461Phe) c.1435C>T (p.Leu479Phe) | ClinVar dbSNP gnomAD v4 |
5 | g.68295289_68295297del | CA645556605 | PIK3R1 | c.810_818del (p.Ile271_Leu273del) c.900_908del (p.Ile301_Leu303del) c.1710_1718del (p.Ile571_Leu573del) c.*680_*688del (n.*680_*688del) c.1635_1643del (p.Ile546_Leu548del) c.1185_1193del (p.Ile396_Leu398del) n.1351_1359del c.*676_*684del (n.*676_*684del) c.747_755del (p.Ile250_Leu252del) c.717_725del (p.Ile240_Leu242del) c.621_629del (p.Ile208_Leu210del) c.693_701del (p.Ile232_Leu234del) c.402_410del (p.Ile135_Leu137del) c.306_314del (p.Ile103_Leu105del) n.2253_2261del n.1109_1117del c.1383_1391del (p.Ile462_Leu464del) c.1437_1445del (p.Ile480_Leu482del) | COSMIC |
5 | g.68295288T>A | CA359883083 | PIK3R1 | c.809T>A (p.Leu270His) c.899T>A (p.Leu300His) c.1709T>A (p.Leu570His) c.*679T>A (n.*679T>A) c.1634T>A (p.Leu545His) c.1184T>A (p.Leu395His) n.1350T>A c.*675T>A (n.*675T>A) c.746T>A (p.Leu249His) c.716T>A (p.Leu239His) c.620T>A (p.Leu207His) c.692T>A (p.Leu231His) c.401T>A (p.Leu134His) c.305T>A (p.Leu102His) n.2252T>A n.1108T>A c.1382T>A (p.Leu461His) c.1436T>A (p.Leu479His) | dbSNP COSMIC COSMIC COSMIC |
5 | g.68295288T>C | CA359883081 | PIK3R1 | c.809T>C (p.Leu270Pro) c.899T>C (p.Leu300Pro) c.1709T>C (p.Leu570Pro) c.*679T>C (n.*679T>C) c.1634T>C (p.Leu545Pro) c.1184T>C (p.Leu395Pro) n.1350T>C c.*675T>C (n.*675T>C) c.746T>C (p.Leu249Pro) c.716T>C (p.Leu239Pro) c.620T>C (p.Leu207Pro) c.692T>C (p.Leu231Pro) c.401T>C (p.Leu134Pro) c.305T>C (p.Leu102Pro) n.2252T>C n.1108T>C c.1382T>C (p.Leu461Pro) c.1436T>C (p.Leu479Pro) | COSMIC |
5 | g.68295288T>G | CA359883082 | PIK3R1 | c.809T>G (p.Leu270Arg) c.899T>G (p.Leu300Arg) c.1709T>G (p.Leu570Arg) c.*679T>G (n.*679T>G) c.1634T>G (p.Leu545Arg) c.1184T>G (p.Leu395Arg) n.1350T>G c.*675T>G (n.*675T>G) c.746T>G (p.Leu249Arg) c.716T>G (p.Leu239Arg) c.620T>G (p.Leu207Arg) c.692T>G (p.Leu231Arg) c.401T>G (p.Leu134Arg) c.305T>G (p.Leu102Arg) n.2252T>G n.1108T>G c.1382T>G (p.Leu461Arg) c.1436T>G (p.Leu479Arg) | |
5 | g.68295289dup | CA444672786 | PIK3R1 | c.810dup (p.Ile271TyrfsTer?) c.900dup (p.Ile301TyrfsTer?) c.1710dup (p.Ile571TyrfsTer?) c.*680dup (n.*680dup) c.1635dup (p.Ile546TyrfsTer?) c.1185dup (p.Ile396TyrfsTer?) n.1351dup c.*676dup (n.*676dup) c.747dup (p.Ile250TyrfsTer?) c.717dup (p.Ile240TyrfsTer?) c.621dup (p.Ile208TyrfsTer?) c.693dup (p.Ile232TyrfsTer?) c.402dup (p.Ile135TyrfsTer?) c.306dup (p.Ile103TyrfsTer?) n.2253dup n.1109dup c.1383dup (p.Ile462TyrfsTer?) c.1437dup (p.Ile480TyrfsTer?) | ClinVar dbSNP COSMIC COSMIC COSMIC |
5 | g.68295289_68295291dup | CA645556606 | PIK3R1 | c.810_812dup (p.Ile271_Gln272insIle) c.900_902dup (p.Ile301_Gln302insIle) c.1710_1712dup (p.Ile571_Gln572insIle) c.*680_*682dup (n.*680_*682dup) c.1635_1637dup (p.Ile546_Gln547insIle) c.1185_1187dup (p.Ile396_Gln397insIle) n.1351_1353dup c.*676_*678dup (n.*676_*678dup) c.747_749dup (p.Ile250_Gln251insIle) c.717_719dup (p.Ile240_Gln241insIle) c.621_623dup (p.Ile208_Gln209insIle) c.693_695dup (p.Ile232_Gln233insIle) c.402_404dup (p.Ile135_Gln136insIle) c.306_308dup (p.Ile103_Gln104insIle) n.2253_2255dup n.1109_1111dup c.1383_1385dup (p.Ile462_Gln463insIle) c.1437_1439dup (p.Ile480_Gln481insIle) | COSMIC |