| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.68295302_68295310del | CA645556612 | PIK3R1 | c.823_831del (p.Lys275_Arg277del) c.913_921del (p.Lys305_Arg307del) c.1723_1731del (p.Lys575_Arg577del) c.*693_*701del (n.*693_*701del) c.1648_1656del (p.Lys550_Arg552del) c.1198_1206del (p.Lys400_Arg402del) n.1364_1372del c.*689_*697del (n.*689_*697del) c.760_768del (p.Lys254_Arg256del) c.730_738del (p.Lys244_Arg246del) c.634_642del (p.Lys212_Arg214del) c.706_714del (p.Lys236_Arg238del) c.415_423del (p.Lys139_Arg141del) c.319_327del (p.Lys107_Arg109del) n.2266_2274del n.1122_1130del c.1396_1404del (p.Lys466_Arg468del) c.1450_1458del (p.Lys484_Arg486del) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 5 | g.68295301_68295329del | CA645556615 | PIK3R1 | c.822_845+5del c.912_935+5del c.1722_1745+5del c.*692_*715+5del c.1647_1670+5del c.1197_1220+5del n.1363_1386+5del c.*688_*711+5del c.759_782+5del c.729_752+5del c.633_656+5del c.705_728+5del c.414_437+5del c.318_341+5del n.2265_2288+5del n.1121_1144+5del c.1395_1418+5del c.1449_1472+5del | COSMIC COSMIC COSMIC |
| 5 | g.68295303_68295308del | CA645556617 | PIK3R1 | c.824_829del (p.Lys275_Thr276del) c.914_919del (p.Lys305_Thr306del) c.1724_1729del (p.Lys575_Thr576del) c.*694_*699del (n.*694_*699del) c.1649_1654del (p.Lys550_Thr551del) c.1199_1204del (p.Lys400_Thr401del) n.1365_1370del c.*690_*695del (n.*690_*695del) c.761_766del (p.Lys254_Thr255del) c.731_736del (p.Lys244_Thr245del) c.635_640del (p.Lys212_Thr213del) c.707_712del (p.Lys236_Thr237del) c.416_421del (p.Lys139_Thr140del) c.320_325del (p.Lys107_Thr108del) n.2267_2272del n.1123_1128del c.1397_1402del (p.Lys466_Thr467del) c.1451_1456del (p.Lys484_Thr485del) | dbSNP COSMIC COSMIC COSMIC |
| 5 | g.68295303_68295306delinsAGAC | CA1553406176 | PIK3R1 | c.824_827delinsAGAC (p.Lys275=) c.914_917delinsAGAC (p.Lys305=) c.1724_1727delinsAGAC (p.Lys575=) c.*694_*697delinsAGAC (n.*694_*697delinsAGAC) c.1649_1652delinsAGAC (p.Lys550=) c.1199_1202delinsAGAC (p.Lys400=) n.1365_1368delinsAGAC c.*690_*693delinsAGAC (n.*690_*693delinsAGAC) c.761_764delinsAGAC (p.Lys254=) c.731_734delinsAGAC (p.Lys244=) c.635_638delinsAGAC (p.Lys212=) c.707_710delinsAGAC (p.Lys236=) c.416_419delinsAGAC (p.Lys139=) c.320_323delinsAGAC (p.Lys107=) n.2267_2270delinsAGAC n.1123_1126delinsAGAC c.1397_1400delinsAGAC (p.Lys466=) c.1451_1454delinsAGAC (p.Lys484=) | |
| 5 | g.68295306_68295308del | CA16602711 | PIK3R1 | c.827_829del (p.Thr276del) c.917_919del (p.Thr306del) c.1727_1729del (p.Thr576del) c.*697_*699del (n.*697_*699del) c.1652_1654del (p.Thr551del) c.1202_1204del (p.Thr401del) n.1368_1370del c.*693_*695del (n.*693_*695del) c.764_766del (p.Thr255del) c.734_736del (p.Thr245del) c.638_640del (p.Thr213del) c.710_712del (p.Thr237del) c.419_421del (p.Thr140del) c.323_325del (p.Thr108del) n.2270_2272del n.1126_1128del c.1400_1402del (p.Thr467del) c.1454_1456del (p.Thr485del) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 5 | g.68295304_68295309del | CA645556619 | PIK3R1 | c.825_830del (p.Thr276_Arg277del) c.915_920del (p.Thr306_Arg307del) c.1725_1730del (p.Thr576_Arg577del) c.*695_*700del (n.*695_*700del) c.1650_1655del (p.Thr551_Arg552del) c.1200_1205del (p.Thr401_Arg402del) n.1366_1371del c.*691_*696del (n.*691_*696del) c.762_767del (p.Thr255_Arg256del) c.732_737del (p.Thr245_Arg246del) c.636_641del (p.Thr213_Arg214del) c.708_713del (p.Thr237_Arg238del) c.417_422del (p.Thr140_Arg141del) c.321_326del (p.Thr108_Arg109del) n.2268_2273del n.1124_1129del c.1398_1403del (p.Thr467_Arg468del) c.1452_1457del (p.Thr485_Arg486del) | dbSNP COSMIC COSMIC COSMIC |
| 5 | g.68295304_68295310delinsGACGAGA | CA1553406177 | PIK3R1 | c.825_831delinsGACGAGA (p.Lys275=) c.915_921delinsGACGAGA (p.Lys305=) c.1725_1731delinsGACGAGA (p.Lys575=) c.*695_*701delinsGACGAGA (n.*695_*701delinsGACGAGA) c.1650_1656delinsGACGAGA (p.Lys550=) c.1200_1206delinsGACGAGA (p.Lys400=) n.1366_1372delinsGACGAGA c.*691_*697delinsGACGAGA (n.*691_*697delinsGACGAGA) c.762_768delinsGACGAGA (p.Lys254=) c.732_738delinsGACGAGA (p.Lys244=) c.636_642delinsGACGAGA (p.Lys212=) c.708_714delinsGACGAGA (p.Lys236=) c.417_423delinsGACGAGA (p.Lys139=) c.321_327delinsGACGAGA (p.Lys107=) n.2268_2274delinsGACGAGA n.1124_1130delinsGACGAGA c.1398_1404delinsGACGAGA (p.Lys466=) c.1452_1458delinsGACGAGA (p.Lys484=) | |
| 5 | g.68295305_68295310del | CA3290462 | PIK3R1 | c.826_831del (p.Thr276_Arg277del) c.916_921del (p.Thr306_Arg307del) c.1726_1731del (p.Thr576_Arg577del) c.*696_*701del (n.*696_*701del) c.1651_1656del (p.Thr551_Arg552del) c.1201_1206del (p.Thr401_Arg402del) n.1367_1372del c.*692_*697del (n.*692_*697del) c.763_768del (p.Thr255_Arg256del) c.733_738del (p.Thr245_Arg246del) c.637_642del (p.Thr213_Arg214del) c.709_714del (p.Thr237_Arg238del) c.418_423del (p.Thr140_Arg141del) c.322_327del (p.Thr108_Arg109del) n.2269_2274del n.1125_1130del c.1399_1404del (p.Thr467_Arg468del) c.1453_1458del (p.Thr485_Arg486del) | dbSNP ExAC gnomAD v2 |
| 5 | g.68295306C>A | CA359883121 | PIK3R1 | c.827C>A (p.Thr276Lys) c.917C>A (p.Thr306Lys) c.1727C>A (p.Thr576Lys) c.*697C>A (n.*697C>A) c.1652C>A (p.Thr551Lys) c.1202C>A (p.Thr401Lys) n.1368C>A c.*693C>A (n.*693C>A) c.764C>A (p.Thr255Lys) c.734C>A (p.Thr245Lys) c.638C>A (p.Thr213Lys) c.710C>A (p.Thr237Lys) c.419C>A (p.Thr140Lys) c.323C>A (p.Thr108Lys) n.2270C>A n.1126C>A c.1400C>A (p.Thr467Lys) c.1454C>A (p.Thr485Lys) | dbSNP |
| 5 | g.68295306C= | CA1553406178 | PIK3R1 | c.827C= (p.Thr276=) c.917C= (p.Thr306=) c.1727C= (p.Thr576=) c.*697C= (n.*697C=) c.1652C= (p.Thr551=) c.1202C= (p.Thr401=) n.1368C= c.*693C= (n.*693C=) c.764C= (p.Thr255=) c.734C= (p.Thr245=) c.638C= (p.Thr213=) c.710C= (p.Thr237=) c.419C= (p.Thr140=) c.323C= (p.Thr108=) n.2270C= n.1126C= c.1400C= (p.Thr467=) c.1454C= (p.Thr485=) | |
| 5 | g.68295306C>G | CA359883122 | PIK3R1 | c.827C>G (p.Thr276Arg) c.917C>G (p.Thr306Arg) c.1727C>G (p.Thr576Arg) c.*697C>G (n.*697C>G) c.1652C>G (p.Thr551Arg) c.1202C>G (p.Thr401Arg) n.1368C>G c.*693C>G (n.*693C>G) c.764C>G (p.Thr255Arg) c.734C>G (p.Thr245Arg) c.638C>G (p.Thr213Arg) c.710C>G (p.Thr237Arg) c.419C>G (p.Thr140Arg) c.323C>G (p.Thr108Arg) n.2270C>G n.1126C>G c.1400C>G (p.Thr467Arg) c.1454C>G (p.Thr485Arg) | dbSNP |
| 5 | g.68295306C>T | CA3290463 | PIK3R1 | c.827C>T (p.Thr276Met) c.917C>T (p.Thr306Met) c.1727C>T (p.Thr576Met) c.*697C>T (n.*697C>T) c.1652C>T (p.Thr551Met) c.1202C>T (p.Thr401Met) n.1368C>T c.*693C>T (n.*693C>T) c.764C>T (p.Thr255Met) c.734C>T (p.Thr245Met) c.638C>T (p.Thr213Met) c.710C>T (p.Thr237Met) c.419C>T (p.Thr140Met) c.323C>T (p.Thr108Met) n.2270C>T n.1126C>T c.1400C>T (p.Thr467Met) c.1454C>T (p.Thr485Met) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 5 | g.68295307del | CA444672826 | PIK3R1 | c.828del (p.Arg277GlufsTer5) c.918del (p.Arg307GlufsTer5) c.1728del (p.Arg577GlufsTer5) c.*698del (n.*698del) c.1653del (p.Arg552GlufsTer5) c.1203del (p.Arg402GlufsTer5) n.1369del c.*694del (n.*694del) c.765del (p.Arg256GlufsTer5) c.735del (p.Arg246GlufsTer5) c.639del (p.Arg214GlufsTer5) c.711del (p.Arg238GlufsTer5) c.420del (p.Arg141GlufsTer5) c.324del (p.Arg109GlufsTer5) n.2271del n.1127del c.1401del (p.Arg468GlufsTer5) c.1455del (p.Arg486GlufsTer5) | COSMIC COSMIC COSMIC |
| 5 | g.68295307G>A | CA3290464 | PIK3R1 | c.828G>A (p.Thr276=) c.918G>A (p.Thr306=) c.1728G>A (p.Thr576=) c.*698G>A (n.*698G>A) c.1653G>A (p.Thr551=) c.1203G>A (p.Thr401=) n.1369G>A c.*694G>A (n.*694G>A) c.765G>A (p.Thr255=) c.735G>A (p.Thr245=) c.639G>A (p.Thr213=) c.711G>A (p.Thr237=) c.420G>A (p.Thr140=) c.324G>A (p.Thr108=) n.2271G>A n.1127G>A c.1401G>A (p.Thr467=) c.1455G>A (p.Thr485=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.68295307G>C | CA444672825 | PIK3R1 | c.828G>C (p.Thr276=) c.918G>C (p.Thr306=) c.1728G>C (p.Thr576=) c.*698G>C (n.*698G>C) c.1653G>C (p.Thr551=) c.1203G>C (p.Thr401=) n.1369G>C c.*694G>C (n.*694G>C) c.765G>C (p.Thr255=) c.735G>C (p.Thr245=) c.639G>C (p.Thr213=) c.711G>C (p.Thr237=) c.420G>C (p.Thr140=) c.324G>C (p.Thr108=) n.2271G>C n.1127G>C c.1401G>C (p.Thr467=) c.1455G>C (p.Thr485=) | |
| 5 | g.68295307G= | CA1553406179 | PIK3R1 | c.828G= (p.Thr276=) c.918G= (p.Thr306=) c.1728G= (p.Thr576=) c.*698G= (n.*698G=) c.1653G= (p.Thr551=) c.1203G= (p.Thr401=) n.1369G= c.*694G= (n.*694G=) c.765G= (p.Thr255=) c.735G= (p.Thr245=) c.639G= (p.Thr213=) c.711G= (p.Thr237=) c.420G= (p.Thr140=) c.324G= (p.Thr108=) n.2271G= n.1127G= c.1401G= (p.Thr467=) c.1455G= (p.Thr485=) | |
| 5 | g.68295307G>T | CA3290465 | PIK3R1 | c.828G>T (p.Thr276=) c.918G>T (p.Thr306=) c.1728G>T (p.Thr576=) c.*698G>T (n.*698G>T) c.1653G>T (p.Thr551=) c.1203G>T (p.Thr401=) n.1369G>T c.*694G>T (n.*694G>T) c.765G>T (p.Thr255=) c.735G>T (p.Thr245=) c.639G>T (p.Thr213=) c.711G>T (p.Thr237=) c.420G>T (p.Thr140=) c.324G>T (p.Thr108=) n.2271G>T n.1127G>T c.1401G>T (p.Thr467=) c.1455G>T (p.Thr485=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.68295311_68295312del | CA645556620 | PIK3R1 | c.832_833del (p.Asp278ProfsTer23) c.922_923del (p.Asp308ProfsTer23) c.1732_1733del (p.Asp578ProfsTer23) c.*702_*703del (n.*702_*703del) c.1657_1658del (p.Asp553ProfsTer23) c.1207_1208del (p.Asp403ProfsTer23) n.1373_1374del c.*698_*699del (n.*698_*699del) c.769_770del (p.Asp257ProfsTer23) c.739_740del (p.Asp247ProfsTer23) c.643_644del (p.Asp215ProfsTer23) c.715_716del (p.Asp239ProfsTer23) c.424_425del (p.Asp142ProfsTer23) c.328_329del (p.Asp110ProfsTer23) n.2275_2276del n.1131_1132del c.1405_1406del (p.Asp469ProfsTer23) c.1459_1460del (p.Asp487ProfsTer23) | COSMIC COSMIC COSMIC |
| 5 | g.68295309_68295323del | CA645556621 | PIK3R1 | c.830_844del (p.Arg277_Leu281del) c.920_934del (p.Arg307_Leu311del) c.1730_1744del (p.Arg577_Leu581del) c.*700_*714del (n.*700_*714del) c.1655_1669del (p.Arg552_Leu556del) c.1205_1219del (p.Arg402_Leu406del) n.1371_1385del c.*696_*710del (n.*696_*710del) c.767_781del (p.Arg256_Leu260del) c.737_751del (p.Arg246_Leu250del) c.641_655del (p.Arg214_Leu218del) c.713_727del (p.Arg238_Leu242del) c.422_436del (p.Arg141_Leu145del) c.326_340del (p.Arg109_Leu113del) n.2273_2287del n.1129_1143del c.1403_1417del (p.Arg468_Leu472del) c.1457_1471del (p.Arg486_Leu490del) | COSMIC COSMIC COSMIC |
| 5 | g.68295308A>C | CA444672828 | PIK3R1 | c.829A>C (p.Arg277=) c.919A>C (p.Arg307=) c.1729A>C (p.Arg577=) c.*699A>C (n.*699A>C) c.1654A>C (p.Arg552=) c.1204A>C (p.Arg402=) n.1370A>C c.*695A>C (n.*695A>C) c.766A>C (p.Arg256=) c.736A>C (p.Arg246=) c.640A>C (p.Arg214=) c.712A>C (p.Arg238=) c.421A>C (p.Arg141=) c.325A>C (p.Arg109=) n.2272A>C n.1128A>C c.1402A>C (p.Arg468=) c.1456A>C (p.Arg486=) | |
| 5 | g.68295308A>G | CA359883123 | PIK3R1 | c.829A>G (p.Arg277Gly) c.919A>G (p.Arg307Gly) c.1729A>G (p.Arg577Gly) c.*699A>G (n.*699A>G) c.1654A>G (p.Arg552Gly) c.1204A>G (p.Arg402Gly) n.1370A>G c.*695A>G (n.*695A>G) c.766A>G (p.Arg256Gly) c.736A>G (p.Arg246Gly) c.640A>G (p.Arg214Gly) c.712A>G (p.Arg238Gly) c.421A>G (p.Arg141Gly) c.325A>G (p.Arg109Gly) n.2272A>G n.1128A>G c.1402A>G (p.Arg468Gly) c.1456A>G (p.Arg486Gly) | gnomAD v4 |
| 5 | g.68295308A>T | CA359883124 | PIK3R1 | c.829A>T (p.Arg277Ter) c.919A>T (p.Arg307Ter) c.1729A>T (p.Arg577Ter) c.*699A>T (n.*699A>T) c.1654A>T (p.Arg552Ter) c.1204A>T (p.Arg402Ter) n.1370A>T c.*695A>T (n.*695A>T) c.766A>T (p.Arg256Ter) c.736A>T (p.Arg246Ter) c.640A>T (p.Arg214Ter) c.712A>T (p.Arg238Ter) c.421A>T (p.Arg141Ter) c.325A>T (p.Arg109Ter) n.2272A>T n.1128A>T c.1402A>T (p.Arg468Ter) c.1456A>T (p.Arg486Ter) | |
| 5 | g.68295308_68295313del | CA645556623 | PIK3R1 | c.829_834del (p.Arg277_Asp278del) c.919_924del (p.Arg307_Asp308del) c.1729_1734del (p.Arg577_Asp578del) c.*699_*704del (n.*699_*704del) c.1654_1659del (p.Arg552_Asp553del) c.1204_1209del (p.Arg402_Asp403del) n.1370_1375del c.*695_*700del (n.*695_*700del) c.766_771del (p.Arg256_Asp257del) c.736_741del (p.Arg246_Asp247del) c.640_645del (p.Arg214_Asp215del) c.712_717del (p.Arg238_Asp239del) c.421_426del (p.Arg141_Asp142del) c.325_330del (p.Arg109_Asp110del) n.2272_2277del n.1128_1133del c.1402_1407del (p.Arg468_Asp469del) c.1456_1461del (p.Arg486_Asp487del) | COSMIC COSMIC COSMIC |
| 5 | g.68295309_68295327del | CA645556622 | PIK3R1 | c.830_845+3del c.920_935+3del c.1730_1745+3del c.*700_*715+3del c.1655_1670+3del c.1205_1220+3del n.1371_1386+3del c.*696_*711+3del c.767_782+3del c.737_752+3del c.641_656+3del c.713_728+3del c.422_437+3del c.326_341+3del n.2273_2288+3del n.1129_1144+3del c.1403_1418+3del c.1457_1472+3del | COSMIC COSMIC COSMIC |
| 5 | g.68295309G>A | CA359883125 | PIK3R1 | c.830G>A (p.Arg277Lys) c.920G>A (p.Arg307Lys) c.1730G>A (p.Arg577Lys) c.*700G>A (n.*700G>A) c.1655G>A (p.Arg552Lys) c.1205G>A (p.Arg402Lys) n.1371G>A c.*696G>A (n.*696G>A) c.767G>A (p.Arg256Lys) c.737G>A (p.Arg246Lys) c.641G>A (p.Arg214Lys) c.713G>A (p.Arg238Lys) c.422G>A (p.Arg141Lys) c.326G>A (p.Arg109Lys) n.2273G>A n.1129G>A c.1403G>A (p.Arg468Lys) c.1457G>A (p.Arg486Lys) | COSMIC COSMIC COSMIC |
| 5 | g.68295309G>C | CA359883127 | PIK3R1 | c.830G>C (p.Arg277Thr) c.920G>C (p.Arg307Thr) c.1730G>C (p.Arg577Thr) c.*700G>C (n.*700G>C) c.1655G>C (p.Arg552Thr) c.1205G>C (p.Arg402Thr) n.1371G>C c.*696G>C (n.*696G>C) c.767G>C (p.Arg256Thr) c.737G>C (p.Arg246Thr) c.641G>C (p.Arg214Thr) c.713G>C (p.Arg238Thr) c.422G>C (p.Arg141Thr) c.326G>C (p.Arg109Thr) n.2273G>C n.1129G>C c.1403G>C (p.Arg468Thr) c.1457G>C (p.Arg486Thr) | |
| 5 | g.68295309G>T | CA359883126 | PIK3R1 | c.830G>T (p.Arg277Ile) c.920G>T (p.Arg307Ile) c.1730G>T (p.Arg577Ile) c.*700G>T (n.*700G>T) c.1655G>T (p.Arg552Ile) c.1205G>T (p.Arg402Ile) n.1371G>T c.*696G>T (n.*696G>T) c.767G>T (p.Arg256Ile) c.737G>T (p.Arg246Ile) c.641G>T (p.Arg214Ile) c.713G>T (p.Arg238Ile) c.422G>T (p.Arg141Ile) c.326G>T (p.Arg109Ile) n.2273G>T n.1129G>T c.1403G>T (p.Arg468Ile) c.1457G>T (p.Arg486Ile) | |
| 5 | g.68295310A>C | CA359883128 | PIK3R1 | c.831A>C (p.Arg277Ser) c.921A>C (p.Arg307Ser) c.1731A>C (p.Arg577Ser) c.*701A>C (n.*701A>C) c.1656A>C (p.Arg552Ser) c.1206A>C (p.Arg402Ser) n.1372A>C c.*697A>C (n.*697A>C) c.768A>C (p.Arg256Ser) c.738A>C (p.Arg246Ser) c.642A>C (p.Arg214Ser) c.714A>C (p.Arg238Ser) c.423A>C (p.Arg141Ser) c.327A>C (p.Arg109Ser) n.2274A>C n.1130A>C c.1404A>C (p.Arg468Ser) c.1458A>C (p.Arg486Ser) | |
| 5 | g.68295310A>G | CA444672833 | PIK3R1 | c.831A>G (p.Arg277=) c.921A>G (p.Arg307=) c.1731A>G (p.Arg577=) c.*701A>G (n.*701A>G) c.1656A>G (p.Arg552=) c.1206A>G (p.Arg402=) n.1372A>G c.*697A>G (n.*697A>G) c.768A>G (p.Arg256=) c.738A>G (p.Arg246=) c.642A>G (p.Arg214=) c.714A>G (p.Arg238=) c.423A>G (p.Arg141=) c.327A>G (p.Arg109=) n.2274A>G n.1130A>G c.1404A>G (p.Arg468=) c.1458A>G (p.Arg486=) | |
| 5 | g.68295310A>T | CA359883129 | PIK3R1 | c.831A>T (p.Arg277Ser) c.921A>T (p.Arg307Ser) c.1731A>T (p.Arg577Ser) c.*701A>T (n.*701A>T) c.1656A>T (p.Arg552Ser) c.1206A>T (p.Arg402Ser) n.1372A>T c.*697A>T (n.*697A>T) c.768A>T (p.Arg256Ser) c.738A>T (p.Arg246Ser) c.642A>T (p.Arg214Ser) c.714A>T (p.Arg238Ser) c.423A>T (p.Arg141Ser) c.327A>T (p.Arg109Ser) n.2274A>T n.1130A>T c.1404A>T (p.Arg468Ser) c.1458A>T (p.Arg486Ser) | |
| 5 | g.68295311G>A | CA359883130 | PIK3R1 | c.832G>A (p.Asp278Asn) c.922G>A (p.Asp308Asn) c.1732G>A (p.Asp578Asn) c.*702G>A (n.*702G>A) c.1657G>A (p.Asp553Asn) c.1207G>A (p.Asp403Asn) n.1373G>A c.*698G>A (n.*698G>A) c.769G>A (p.Asp257Asn) c.739G>A (p.Asp247Asn) c.643G>A (p.Asp215Asn) c.715G>A (p.Asp239Asn) c.424G>A (p.Asp142Asn) c.328G>A (p.Asp110Asn) n.2275G>A n.1131G>A c.1405G>A (p.Asp469Asn) c.1459G>A (p.Asp487Asn) | |
| 5 | g.68295311G>C | CA359883131 | PIK3R1 | c.832G>C (p.Asp278His) c.922G>C (p.Asp308His) c.1732G>C (p.Asp578His) c.*702G>C (n.*702G>C) c.1657G>C (p.Asp553His) c.1207G>C (p.Asp403His) n.1373G>C c.*698G>C (n.*698G>C) c.769G>C (p.Asp257His) c.739G>C (p.Asp247His) c.643G>C (p.Asp215His) c.715G>C (p.Asp239His) c.424G>C (p.Asp142His) c.328G>C (p.Asp110His) n.2275G>C n.1131G>C c.1405G>C (p.Asp469His) c.1459G>C (p.Asp487His) | |
| 5 | g.68295311G>T | CA359883132 | PIK3R1 | c.832G>T (p.Asp278Tyr) c.922G>T (p.Asp308Tyr) c.1732G>T (p.Asp578Tyr) c.*702G>T (n.*702G>T) c.1657G>T (p.Asp553Tyr) c.1207G>T (p.Asp403Tyr) n.1373G>T c.*698G>T (n.*698G>T) c.769G>T (p.Asp257Tyr) c.739G>T (p.Asp247Tyr) c.643G>T (p.Asp215Tyr) c.715G>T (p.Asp239Tyr) c.424G>T (p.Asp142Tyr) c.328G>T (p.Asp110Tyr) n.2275G>T n.1131G>T c.1405G>T (p.Asp469Tyr) c.1459G>T (p.Asp487Tyr) | |
| 5 | g.68295311_68295317delinsGACCAAT | CA1553406180 | PIK3R1 | c.832_838delinsGACCAAT (p.Asp278=) c.922_928delinsGACCAAT (p.Asp308=) c.1732_1738delinsGACCAAT (p.Asp578=) c.*702_*708delinsGACCAAT (n.*702_*708delinsGACCAAT) c.1657_1663delinsGACCAAT (p.Asp553=) c.1207_1213delinsGACCAAT (p.Asp403=) n.1373_1379delinsGACCAAT c.*698_*704delinsGACCAAT (n.*698_*704delinsGACCAAT) c.769_775delinsGACCAAT (p.Asp257=) c.739_745delinsGACCAAT (p.Asp247=) c.643_649delinsGACCAAT (p.Asp215=) c.715_721delinsGACCAAT (p.Asp239=) c.424_430delinsGACCAAT (p.Asp142=) c.328_334delinsGACCAAT (p.Asp110=) n.2275_2281delinsGACCAAT n.1131_1137delinsGACCAAT c.1405_1411delinsGACCAAT (p.Asp469=) c.1459_1465delinsGACCAAT (p.Asp487=) | |
| 5 | g.68295311_68295317delinsTGTAAGAAAG | CA2573139740 | PIK3R1 | c.832_838delinsTGTAAGAAAG (p.Asp278_Tyr280delinsCysLysLysAsp) c.922_928delinsTGTAAGAAAG (p.Asp308_Tyr310delinsCysLysLysAsp) c.1732_1738delinsTGTAAGAAAG (p.Asp578_Tyr580delinsCysLysLysAsp) c.*702_*708delinsTGTAAGAAAG (n.*702_*708delinsTGTAAGAAAG) c.1657_1663delinsTGTAAGAAAG (p.Asp553_Tyr555delinsCysLysLysAsp) c.1207_1213delinsTGTAAGAAAG (p.Asp403_Tyr405delinsCysLysLysAsp) n.1373_1379delinsTGTAAGAAAG c.*698_*704delinsTGTAAGAAAG (n.*698_*704delinsTGTAAGAAAG) c.769_775delinsTGTAAGAAAG (p.Asp257_Tyr259delinsCysLysLysAsp) c.739_745delinsTGTAAGAAAG (p.Asp247_Tyr249delinsCysLysLysAsp) c.643_649delinsTGTAAGAAAG (p.Asp215_Tyr217delinsCysLysLysAsp) c.715_721delinsTGTAAGAAAG (p.Asp239_Tyr241delinsCysLysLysAsp) c.424_430delinsTGTAAGAAAG (p.Asp142_Tyr144delinsCysLysLysAsp) c.328_334delinsTGTAAGAAAG (p.Asp110_Tyr112delinsCysLysLysAsp) n.2275_2281delinsTGTAAGAAAG n.1131_1137delinsTGTAAGAAAG c.1405_1411delinsTGTAAGAAAG (p.Asp469_Tyr471delinsCysLysLysAsp) c.1459_1465delinsTGTAAGAAAG (p.Asp487_Tyr489delinsCysLysLysAsp) | ClinVar dbSNP |
| 5 | g.68295313_68295323del | CA645556624 | PIK3R1 | c.834_844del (p.Gln279ValfsTer19) c.924_934del (p.Gln309ValfsTer19) c.1734_1744del (p.Gln579ValfsTer19) c.*704_*714del (n.*704_*714del) c.1659_1669del (p.Gln554ValfsTer19) c.1209_1219del (p.Gln404ValfsTer19) n.1375_1385del c.*700_*710del (n.*700_*710del) c.771_781del (p.Gln258ValfsTer19) c.741_751del (p.Gln248ValfsTer19) c.645_655del (p.Gln216ValfsTer19) c.717_727del (p.Gln240ValfsTer19) c.426_436del (p.Gln143ValfsTer19) c.330_340del (p.Gln111ValfsTer19) n.2277_2287del n.1133_1143del c.1407_1417del (p.Gln470ValfsTer19) c.1461_1471del (p.Gln488ValfsTer19) | COSMIC COSMIC COSMIC |
| 5 | g.68295312A>C | CA359883135 | PIK3R1 | c.833A>C (p.Asp278Ala) c.923A>C (p.Asp308Ala) c.1733A>C (p.Asp578Ala) c.*703A>C (n.*703A>C) c.1658A>C (p.Asp553Ala) c.1208A>C (p.Asp403Ala) n.1374A>C c.*699A>C (n.*699A>C) c.770A>C (p.Asp257Ala) c.740A>C (p.Asp247Ala) c.644A>C (p.Asp215Ala) c.716A>C (p.Asp239Ala) c.425A>C (p.Asp142Ala) c.329A>C (p.Asp110Ala) n.2276A>C n.1132A>C c.1406A>C (p.Asp469Ala) c.1460A>C (p.Asp487Ala) | |
| 5 | g.68295312A>G | CA359883134 | PIK3R1 | c.833A>G (p.Asp278Gly) c.923A>G (p.Asp308Gly) c.1733A>G (p.Asp578Gly) c.*703A>G (n.*703A>G) c.1658A>G (p.Asp553Gly) c.1208A>G (p.Asp403Gly) n.1374A>G c.*699A>G (n.*699A>G) c.770A>G (p.Asp257Gly) c.740A>G (p.Asp247Gly) c.644A>G (p.Asp215Gly) c.716A>G (p.Asp239Gly) c.425A>G (p.Asp142Gly) c.329A>G (p.Asp110Gly) n.2276A>G n.1132A>G c.1406A>G (p.Asp469Gly) c.1460A>G (p.Asp487Gly) | |
| 5 | g.68295312A>T | CA359883133 | PIK3R1 | c.833A>T (p.Asp278Val) c.923A>T (p.Asp308Val) c.1733A>T (p.Asp578Val) c.*703A>T (n.*703A>T) c.1658A>T (p.Asp553Val) c.1208A>T (p.Asp403Val) n.1374A>T c.*699A>T (n.*699A>T) c.770A>T (p.Asp257Val) c.740A>T (p.Asp247Val) c.644A>T (p.Asp215Val) c.716A>T (p.Asp239Val) c.425A>T (p.Asp142Val) c.329A>T (p.Asp110Val) n.2276A>T n.1132A>T c.1406A>T (p.Asp469Val) c.1460A>T (p.Asp487Val) | |
| 5 | g.68295314_68295319del | CA3290466 | PIK3R1 | c.835_840del (p.Gln279_Tyr280del) c.925_930del (p.Gln309_Tyr310del) c.1735_1740del (p.Gln579_Tyr580del) c.*705_*710del (n.*705_*710del) c.1660_1665del (p.Gln554_Tyr555del) c.1210_1215del (p.Gln404_Tyr405del) n.1376_1381del c.*701_*706del (n.*701_*706del) c.772_777del (p.Gln258_Tyr259del) c.742_747del (p.Gln248_Tyr249del) c.646_651del (p.Gln216_Tyr217del) c.718_723del (p.Gln240_Tyr241del) c.427_432del (p.Gln143_Tyr144del) c.331_336del (p.Gln111_Tyr112del) n.2278_2283del n.1134_1139del c.1408_1413del (p.Gln470_Tyr471del) c.1462_1467del (p.Gln488_Tyr489del) | ClinVar dbSNP ExAC gnomAD v2 |
| 5 | g.68295313C>A | CA359883136 | PIK3R1 | c.834C>A (p.Asp278Glu) c.924C>A (p.Asp308Glu) c.1734C>A (p.Asp578Glu) c.*704C>A (n.*704C>A) c.1659C>A (p.Asp553Glu) c.1209C>A (p.Asp403Glu) n.1375C>A c.*700C>A (n.*700C>A) c.771C>A (p.Asp257Glu) c.741C>A (p.Asp247Glu) c.645C>A (p.Asp215Glu) c.717C>A (p.Asp239Glu) c.426C>A (p.Asp142Glu) c.330C>A (p.Asp110Glu) n.2277C>A n.1133C>A c.1407C>A (p.Asp469Glu) c.1461C>A (p.Asp487Glu) | dbSNP |
| 5 | g.68295313C>G | CA359883137 | PIK3R1 | c.834C>G (p.Asp278Glu) c.924C>G (p.Asp308Glu) c.1734C>G (p.Asp578Glu) c.*704C>G (n.*704C>G) c.1659C>G (p.Asp553Glu) c.1209C>G (p.Asp403Glu) n.1375C>G c.*700C>G (n.*700C>G) c.771C>G (p.Asp257Glu) c.741C>G (p.Asp247Glu) c.645C>G (p.Asp215Glu) c.717C>G (p.Asp239Glu) c.426C>G (p.Asp142Glu) c.330C>G (p.Asp110Glu) n.2277C>G n.1133C>G c.1407C>G (p.Asp469Glu) c.1461C>G (p.Asp487Glu) | dbSNP |
| 5 | g.68295313C>T | CA444672835 | PIK3R1 | c.834C>T (p.Asp278=) c.924C>T (p.Asp308=) c.1734C>T (p.Asp578=) c.*704C>T (n.*704C>T) c.1659C>T (p.Asp553=) c.1209C>T (p.Asp403=) n.1375C>T c.*700C>T (n.*700C>T) c.771C>T (p.Asp257=) c.741C>T (p.Asp247=) c.645C>T (p.Asp215=) c.717C>T (p.Asp239=) c.426C>T (p.Asp142=) c.330C>T (p.Asp110=) n.2277C>T n.1133C>T c.1407C>T (p.Asp469=) c.1461C>T (p.Asp487=) | dbSNP |
| 5 | g.68295314dup | CA645556625 | PIK3R1 | c.835dup (p.Gln279ProfsTer23) c.925dup (p.Gln309ProfsTer23) c.1735dup (p.Gln579ProfsTer23) c.*705dup (n.*705dup) c.1660dup (p.Gln554ProfsTer23) c.1210dup (p.Gln404ProfsTer23) n.1376dup c.*701dup (n.*701dup) c.772dup (p.Gln258ProfsTer23) c.742dup (p.Gln248ProfsTer23) c.646dup (p.Gln216ProfsTer23) c.718dup (p.Gln240ProfsTer23) c.427dup (p.Gln143ProfsTer23) c.331dup (p.Gln111ProfsTer23) n.2278dup n.1134dup c.1408dup (p.Gln470ProfsTer23) c.1462dup (p.Gln488ProfsTer23) | COSMIC |
| 5 | g.68295314C>A | CA359883138 | PIK3R1 | c.835C>A (p.Gln279Lys) c.925C>A (p.Gln309Lys) c.1735C>A (p.Gln579Lys) c.*705C>A (n.*705C>A) c.1660C>A (p.Gln554Lys) c.1210C>A (p.Gln404Lys) n.1376C>A c.*701C>A (n.*701C>A) c.772C>A (p.Gln258Lys) c.742C>A (p.Gln248Lys) c.646C>A (p.Gln216Lys) c.718C>A (p.Gln240Lys) c.427C>A (p.Gln143Lys) c.331C>A (p.Gln111Lys) n.2278C>A n.1134C>A c.1408C>A (p.Gln470Lys) c.1462C>A (p.Gln488Lys) | dbSNP |
| 5 | g.68295314C>G | CA359883139 | PIK3R1 | c.835C>G (p.Gln279Glu) c.925C>G (p.Gln309Glu) c.1735C>G (p.Gln579Glu) c.*705C>G (n.*705C>G) c.1660C>G (p.Gln554Glu) c.1210C>G (p.Gln404Glu) n.1376C>G c.*701C>G (n.*701C>G) c.772C>G (p.Gln258Glu) c.742C>G (p.Gln248Glu) c.646C>G (p.Gln216Glu) c.718C>G (p.Gln240Glu) c.427C>G (p.Gln143Glu) c.331C>G (p.Gln111Glu) n.2278C>G n.1134C>G c.1408C>G (p.Gln470Glu) c.1462C>G (p.Gln488Glu) | dbSNP |
| 5 | g.68295314C>T | CA359883140 | PIK3R1 | c.835C>T (p.Gln279Ter) c.925C>T (p.Gln309Ter) c.1735C>T (p.Gln579Ter) c.*705C>T (n.*705C>T) c.1660C>T (p.Gln554Ter) c.1210C>T (p.Gln404Ter) n.1376C>T c.*701C>T (n.*701C>T) c.772C>T (p.Gln258Ter) c.742C>T (p.Gln248Ter) c.646C>T (p.Gln216Ter) c.718C>T (p.Gln240Ter) c.427C>T (p.Gln143Ter) c.331C>T (p.Gln111Ter) n.2278C>T n.1134C>T c.1408C>T (p.Gln470Ter) c.1462C>T (p.Gln488Ter) | dbSNP |
| 5 | g.68295314_68295326del | CA645556626 | PIK3R1 | c.835_845+2del c.925_935+2del c.1735_1745+2del c.*705_*715+2del c.1660_1670+2del c.1210_1220+2del n.1376_1386+2del c.*701_*711+2del c.772_782+2del c.742_752+2del c.646_656+2del c.718_728+2del c.427_437+2del c.331_341+2del n.2278_2288+2del n.1134_1144+2del c.1408_1418+2del c.1462_1472+2del | COSMIC COSMIC COSMIC |