Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.68295201_68295212delinsGTAGAAGAAGATCA1553406146PIK3R1c.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=)
5g.68295202_68295205delinsTAGACA1553406148PIK3R1c.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=)
5g.68295203_68295213delCA3290454PIK3R1c.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
5g.68295203A>CCA444672586PIK3R1c.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=)
5g.68295203A>GCA359882790PIK3R1c.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)
5g.68295203A>TCA359882792PIK3R1c.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
5g.68295209_68295211delCA645556589PIK3R1c.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
5g.68295204G>ACA359882795PIK3R1c.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
5g.68295204G>CCA359882798PIK3R1c.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
5g.68295204G>TCA359882796PIK3R1c.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)
5g.68295204_68295233dupCA2573331939PIK3R1c.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)
5g.68295205A>CCA359882799PIK3R1c.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)
5g.68295205A>GCA444672595PIK3R1c.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
5g.68295205A>TCA359882801PIK3R1c.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
5g.68295206A>CCA444672596PIK3R1c.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=)
5g.68295206A>GCA359882803PIK3R1c.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)
5g.68295206A>TCA359882805PIK3R1c.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)
5g.68295207G>ACA359882807PIK3R1c.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
5g.68295207G>CCA359882810PIK3R1c.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
5g.68295207G=CA1553406149PIK3R1c.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=)
5g.68295207G>TCA359882812PIK3R1c.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
5g.68295208A>CCA359882813PIK3R1c.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)
5g.68295208A>GCA444672601PIK3R1c.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=)
5g.68295208A>TCA359882814PIK3R1c.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)
5g.68295209A>CCA444672602PIK3R1c.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
5g.68295209A>GCA359882816PIK3R1c.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
5g.68295209A>TCA359882818PIK3R1c.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
5g.68295210G>ACA359882821PIK3R1c.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)
5g.68295210G>CCA359882823PIK3R1c.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
5g.68295210G>TCA359882825PIK3R1c.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)
5g.68295211A>CCA359882827PIK3R1c.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)
5g.68295211A>GCA444672606PIK3R1c.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=)
5g.68295211A>TCA359882829PIK3R1c.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)
5g.68295212T>ACA359882833PIK3R1c.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
5g.68295212T>CCA444672607PIK3R1c.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
5g.68295212T>GCA359882831PIK3R1c.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
5g.68295212T=CA1553406150PIK3R1c.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=)
5g.68295213T>ACA359882835PIK3R1c.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)
5g.68295213T>CCA359882838PIK3R1c.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
5g.68295213T>GCA359882840PIK3R1c.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)
5g.68295214G>ACA444672613PIK3R1c.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
5g.68295214G>CCA359882842PIK3R1c.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)
5g.68295214G=CA1553406151PIK3R1c.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=)
5g.68295214G>TCA359882844PIK3R1c.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
5g.68295215G>ACA359882846PIK3R1c.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
5g.68295215G>CCA359882849PIK3R1c.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
5g.68295215G=CA1553406152PIK3R1c.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=)
5g.68295215G>TCA359882851PIK3R1c.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
5g.68295216A>CCA359882853PIK3R1c.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)
5g.68295216A>GCA359882855PIK3R1c.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)
5g.68295216A>TCA359882857PIK3R1c.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)
5g.68295217A=CA1553406153PIK3R1c.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=)
5g.68295217A>CCA359882859PIK3R1c.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)
5g.68295217A>GCA444672618PIK3R1c.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
5g.68295217A>TCA359882861PIK3R1c.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)
5g.68295218G>ACA359882863PIK3R1c.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
5g.68295218G>CCA359882867PIK3R1c.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
5g.68295218G>TCA359882865PIK3R1c.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)
5g.68295219A>CCA359882869PIK3R1c.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)
5g.68295219A>GCA359882872PIK3R1c.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)
5g.68295219A>TCA359882873PIK3R1c.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)
5g.68295220A>CCA359882875PIK3R1c.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)
5g.68295220A>GCA444672622PIK3R1c.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
5g.68295220A>TCA359882877PIK3R1c.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
5g.68295221G>ACA359882879PIK3R1c.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
5g.68295221G>CCA359882882PIK3R1c.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
5g.68295221G>TCA359882884PIK3R1c.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)
5g.68295223_68295227delCA2695204584PIK3R1c.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)
5g.68295222A>CCA359882887PIK3R1c.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)
5g.68295222A>GCA359882888PIK3R1c.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
5g.68295222A>TCA359882890PIK3R1c.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
5g.68295223C>ACA359882892PIK3R1c.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
5g.68295223C>GCA359882894PIK3R1c.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
5g.68295223C>TCA444672626PIK3R1c.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=)
5g.68295224T>ACA359882897PIK3R1c.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
5g.68295224T>CCA444672631PIK3R1c.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=)
5g.68295224T>GCA3290455PIK3R1c.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
5g.68295224T=CA1553406154PIK3R1c.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=)
5g.68295225T>ACA359882900PIK3R1c.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)
5g.68295225T>CCA359882902PIK3R1c.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
5g.68295225T>GCA359882903PIK3R1c.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)
5g.68295226G>ACA444672633PIK3R1c.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
5g.68295226G>CCA359882906PIK3R1c.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
5g.68295226G=CA1553406155PIK3R1c.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=)
5g.68295226G>TCA359882908PIK3R1c.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
5g.68295229_68295253delCA2740091742PIK3R1c.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
5g.68295227A>CCA359882911PIK3R1c.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)
5g.68295227A>GCA359882913PIK3R1c.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)
5g.68295227A>TCA359882916PIK3R1c.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)
5g.68295228A=CA1553406156PIK3R1c.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=)
5g.68295228A>CCA359882917PIK3R1c.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)
5g.68295228A>GCA359882919PIK3R1c.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
5g.68295228A>TCA359882921PIK3R1c.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)
5g.68295229G>ACA444672642PIK3R1c.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=)
5g.68295229G>CCA359882926PIK3R1c.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)
5g.68295229G>TCA359882923PIK3R1c.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)
5g.68295232_68295270dupCA645556590PIK3R1c.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
5g.68295230A>CCA359882928PIK3R1c.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)
5g.68295230A>GCA359882932PIK3R1c.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)
5g.68295230A>TCA359882930PIK3R1c.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)
5g.68295231A>CCA359882936PIK3R1c.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)
5g.68295231A>GCA359882937PIK3R1c.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)
5g.68295231A>TCA359882939PIK3R1c.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
5g.68295232G>ACA3290456PIK3R1c.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
5g.68295232G>CCA359882942PIK3R1c.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)
5g.68295232G=CA1553406157PIK3R1c.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=)
5g.68295232G>TCA359882945PIK3R1c.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
5g.68295233C>ACA359882947PIK3R1c.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
5g.68295233C>GCA359882950PIK3R1c.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
5g.68295233C>TCA359882952PIK3R1c.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
5g.68295234A=CA1553406158PIK3R1c.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=)
5g.68295234A>CCA359882953PIK3R1c.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)
5g.68295234A>GCA359882954PIK3R1c.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
5g.68295234A>TCA359882955PIK3R1c.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
5g.68295235G>ACA444672653PIK3R1c.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
5g.68295235G>CCA359882957PIK3R1c.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
5g.68295235G=CA1553406159PIK3R1c.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=)
5g.68295235G>TCA359882956PIK3R1c.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)
5g.68295236G>ACA359882958PIK3R1c.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
5g.68295236G>CCA359882959PIK3R1c.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
5g.68295236G>TCA359882960PIK3R1c.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)
5g.68295237C>ACA359882961PIK3R1c.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
5g.68295237C>GCA359882962PIK3R1c.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
5g.68295237C>TCA359882963PIK3R1c.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
5g.68295238A>CCA444672658PIK3R1c.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=)
5g.68295238A>GCA444672660PIK3R1c.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=)
5g.68295238A>TCA444672659PIK3R1c.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
5g.68295239G>ACA359882964PIK3R1c.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
5g.68295239G>CCA359882965PIK3R1c.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
5g.68295239G>TCA359882966PIK3R1c.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
5g.68295240C>ACA359882967PIK3R1c.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
5g.68295240C>GCA359882968PIK3R1c.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
5g.68295240C>TCA359882969PIK3R1c.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
5g.68295241T>ACA444672666PIK3R1c.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
5g.68295241T>CCA444672667PIK3R1c.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
5g.68295241T>GCA444672669PIK3R1c.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=)
5g.68295242G>ACA359882972PIK3R1c.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
5g.68295242G>CCA359882971PIK3R1c.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
5g.68295242G>TCA359882970PIK3R1c.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)
5g.68295243A>CCA359882973PIK3R1c.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)
5g.68295243A>GCA359882974PIK3R1c.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
5g.68295243A>TCA359882975PIK3R1c.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
5g.68295244G>ACA444672674PIK3R1c.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
5g.68295244G>CCA3290457PIK3R1c.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
5g.68295244G=CA1553406160PIK3R1c.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=)
5g.68295244G>TCA359882976PIK3R1c.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)
5g.68295245T>ACA359882977PIK3R1c.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
5g.68295245T>CCA359882979PIK3R1c.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
5g.68295245T>GCA359882981PIK3R1c.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
5g.68295246A=CA1553406161PIK3R1c.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=)
5g.68295246A>CCA359882982PIK3R1c.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)
5g.68295246A>GCA359882983PIK3R1c.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
5g.68295246A>TCA359882984PIK3R1c.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)
5g.68295246_68295254delCA645556591PIK3R1c.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
5g.68295247T>ACA359882985PIK3R1c.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
5g.68295247T>CCA444672680PIK3R1c.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=)
5g.68295247T>GCA359882986PIK3R1c.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
5g.68295248C>ACA444672683PIK3R1c.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
5g.68295248C>GCA359882988PIK3R1c.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
5g.68295248C>TCA359882987PIK3R1c.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
5g.68295249G>ACA359882989PIK3R1c.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
5g.68295249G>CCA359882990PIK3R1c.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
5g.68295249G>TCA359882991PIK3R1c.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
5g.68295250A>CCA444672687PIK3R1c.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=)
5g.68295250A>GCA444672690PIK3R1c.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=)
5g.68295250A>TCA444672689PIK3R1c.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
5g.68295251_68295262delCA645556592PIK3R1c.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
5g.68295251G>ACA359882992PIK3R1c.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)
5g.68295251G>CCA359882993PIK3R1c.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
5g.68295251G>TCA359882994PIK3R1c.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)
5g.68295252A>CCA359882995PIK3R1c.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)
5g.68295252A>GCA359882996PIK3R1c.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)
5g.68295252A>TCA359882997PIK3R1c.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)
5g.68295253A>CCA359882998PIK3R1c.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)
5g.68295253A>GCA444672695PIK3R1c.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
5g.68295253A>TCA359882999PIK3R1c.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)
5g.68295254_68295272delCA645556593PIK3R1c.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
5g.68295254A>CCA359883000PIK3R1c.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)
5g.68295254A>GCA359883001PIK3R1c.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
5g.68295254A>TCA359883002PIK3R1c.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)
5g.68295255T>ACA359883004PIK3R1c.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
5g.68295255T>CCA359883005PIK3R1c.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
5g.68295255T>GCA359883003PIK3R1c.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
5g.68295255_68295273delinsTTGACAAACGTATGAACAGCA1553406162PIK3R1c.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=)
5g.68295256T>ACA444672705PIK3R1c.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=)
5g.68295256T>CCA444672706PIK3R1c.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=)
5g.68295256T>GCA359883006PIK3R1c.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)
5g.68295256_68295273delCA3290458PIK3R1c.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
5g.68295256_68295274delinsTGACAAACGTATGAACAGCCA1553406163PIK3R1c.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=)
5g.68295257G>ACA359883008PIK3R1c.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
5g.68295257G>CCA359883007PIK3R1c.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
5g.68295257G=CA1553406164PIK3R1c.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=)
5g.68295257G>TCA16602708PIK3R1c.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
5g.68295257_68295274delCA16602709PIK3R1c.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
5g.68295258A>CCA359883009PIK3R1c.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
5g.68295258A>GCA359883011PIK3R1c.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
5g.68295258A>TCA359883010PIK3R1c.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
5g.68295258dupCA2709238933PIK3R1c.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
5g.68295259C>ACA359883012PIK3R1c.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)
5g.68295259C>GCA359883013PIK3R1c.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
5g.68295259C>TCA444672717PIK3R1c.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
5g.68295260A>CCA359883014PIK3R1c.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)
5g.68295260A>GCA359883015PIK3R1c.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
5g.68295260A>TCA359883016PIK3R1c.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
5g.68295261A>CCA359883017PIK3R1c.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)
5g.68295261A>GCA359883018PIK3R1c.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
5g.68295261A>TCA359883019PIK3R1c.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
5g.68295262A=CA1553406165PIK3R1c.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=)
5g.68295262A>CCA359883020PIK3R1c.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)
5g.68295262A>GCA444672725PIK3R1c.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
5g.68295262A>TCA359883021PIK3R1c.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
5g.68295263C>ACA359883022PIK3R1c.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)
5g.68295263C=CA1553406166PIK3R1c.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=)
5g.68295263C>GCA359883023PIK3R1c.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
5g.68295263C>TCA3290459PIK3R1c.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
5g.68295264G>ACA359883026PIK3R1c.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
5g.68295264G>CCA359883024PIK3R1c.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
5g.68295264G=CA1553406167PIK3R1c.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=)
5g.68295264G>TCA359883025PIK3R1c.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)
5g.68295265T>ACA444672734PIK3R1c.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
5g.68295265T>CCA444672735PIK3R1c.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=)
5g.68295265T>GCA444672736PIK3R1c.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=)
5g.68295266A>CCA359883027PIK3R1c.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)
5g.68295266A>GCA359883028PIK3R1c.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)
5g.68295266A>TCA359883029PIK3R1c.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)
5g.68295267T>ACA359883030PIK3R1c.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
5g.68295267T>CCA359883031PIK3R1c.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)
5g.68295267T>GCA359883032PIK3R1c.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)
5g.68295268_68295288delCA645556595PIK3R1c.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
5g.68295268G>ACA359883033PIK3R1c.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
5g.68295268G>CCA359883034PIK3R1c.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
5g.68295268G>TCA359883035PIK3R1c.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
5g.68295269A=CA1553406168PIK3R1c.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=)
5g.68295269A>CCA359883036PIK3R1c.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)
5g.68295269A>GCA16602710PIK3R1c.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
5g.68295269A>TCA359883037PIK3R1c.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
5g.68295270A>CCA359883038PIK3R1c.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)
5g.68295270A>GCA359883040PIK3R1c.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
5g.68295270A>TCA359883039PIK3R1c.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
5g.68295271C>ACA16602528PIK3R1c.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
5g.68295271C=CA1553406169PIK3R1c.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=)
5g.68295271C>GCA16602529PIK3R1c.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
5g.68295271C>TCA3290460PIK3R1c.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
5g.68295271_68295276delCA2674090562PIK3R1c.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
5g.68295272A>CCA359883041PIK3R1c.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)
5g.68295272A>GCA359883042PIK3R1c.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)
5g.68295272A>TCA359883043PIK3R1c.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
5g.68295273G>ACA359883044PIK3R1c.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
5g.68295273G>CCA359883045PIK3R1c.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
5g.68295273G>TCA359883046PIK3R1c.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
5g.68295274C>ACA359883047PIK3R1c.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
5g.68295274C=CA1553406170PIK3R1c.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=)
5g.68295274C>GCA359883048PIK3R1c.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
5g.68295274C>TCA444672745PIK3R1c.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
5g.68295275A>CCA359883051PIK3R1c.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)
5g.68295275A>GCA359883050PIK3R1c.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
5g.68295275A>TCA359883049PIK3R1c.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)
5g.68295276T>ACA359883052PIK3R1c.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
5g.68295276T>CCA359883053PIK3R1c.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)
5g.68295276T>GCA359883054PIK3R1c.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)
5g.68295277delCA444672751PIK3R1c.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
5g.68295279_68295290delCA645556596PIK3R1c.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
5g.68295277T>ACA444672752PIK3R1c.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=)
5g.68295277T>CCA444672753PIK3R1c.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=)
5g.68295277T>GCA359883055PIK3R1c.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)
5g.68295277_68295279delCA645556597PIK3R1c.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
5g.68295278A=CA1553406171PIK3R1c.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=)
5g.68295278A>CCA359883056PIK3R1c.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)
5g.68295278A>GCA359883057PIK3R1c.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
5g.68295278A>TCA359883058PIK3R1c.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
5g.68295280dupCA444672754PIK3R1c.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
5g.68295280delCA2709240201PIK3R1c.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
5g.68295279A>CCA359883059PIK3R1c.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)
5g.68295279A>GCA359883060PIK3R1c.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)
5g.68295279A>TCA359883061PIK3R1c.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
5g.68295280_68295290delCA645556598PIK3R1c.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
5g.68295280A>CCA359883062PIK3R1c.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)
5g.68295280A>GCA444672759PIK3R1c.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=)
5g.68295280A>TCA359883063PIK3R1c.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
5g.68295280_68295306delCA645556600PIK3R1c.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
5g.68295281C>ACA359883065PIK3R1c.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
5g.68295281C>GCA359883066PIK3R1c.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
5g.68295281C>TCA359883064PIK3R1c.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
5g.68295282_68295287dupCA645556601PIK3R1c.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
5g.68295282C>ACA359883069PIK3R1c.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
5g.68295282C>GCA359883067PIK3R1c.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
5g.68295282C>TCA359883068PIK3R1c.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
5g.68295283A=CA1553406172PIK3R1c.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=)
5g.68295283A>CCA444672766PIK3R1c.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=)
5g.68295283A>GCA444672770PIK3R1c.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=)
5g.68295283A>TCA444672771PIK3R1c.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
5g.68295288_68295314delCA645556602PIK3R1c.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
5g.68295284G>ACA359883070PIK3R1c.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)
5g.68295284G>CCA359883071PIK3R1c.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)
5g.68295284G>TCA359883072PIK3R1c.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)
5g.68295284_68295286dupCA645556603PIK3R1c.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
5g.68295285A>CCA359883073PIK3R1c.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)
5g.68295285A>GCA359883074PIK3R1c.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)
5g.68295285A>TCA359883075PIK3R1c.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
5g.68295285_68295287delCA645556604PIK3R1c.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
5g.68295286C>ACA359883076PIK3R1c.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
5g.68295286C>GCA359883077PIK3R1c.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
5g.68295286C>TCA444672778PIK3R1c.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
5g.68295287C>ACA359883078PIK3R1c.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)
5g.68295287C=CA1553406173PIK3R1c.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=)
5g.68295287C>GCA359883079PIK3R1c.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)
5g.68295287C>TCA359883080PIK3R1c.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
5g.68295289_68295297delCA645556605PIK3R1c.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
5g.68295288T>ACA359883083PIK3R1c.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
5g.68295288T>CCA359883081PIK3R1c.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
5g.68295288T>GCA359883082PIK3R1c.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)
5g.68295289dupCA444672786PIK3R1c.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
5g.68295289_68295291dupCA645556606PIK3R1c.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
5g.68295289T>ACA444672790PIK3R1c.810T>A (p.Leu270=)
c.900T>A (p.Leu300=)
c.1710T>A (p.Leu570=)
c.*680T>A (n.*680T>A)
c.1635T>A (p.Leu545=)
c.1185T>A (p.Leu395=)
n.1351T>A
c.*676T>A (n.*676T>A)
c.747T>A (p.Leu249=)
c.717T>A (p.Leu239=)
c.621T>A (p.Leu207=)
c.693T>A (p.Leu231=)
c.402T>A (p.Leu134=)
c.306T>A (p.Leu102=)
n.2253T>A
n.1109T>A
c.1383T>A (p.Leu461=)
c.1437T>A (p.Leu479=)
 dbSNP
5g.68295289T>CCA444672789PIK3R1c.810T>C (p.Leu270=)
c.900T>C (p.Leu300=)
c.1710T>C (p.Leu570=)
c.*680T>C (n.*680T>C)
c.1635T>C (p.Leu545=)
c.1185T>C (p.Leu395=)
n.1351T>C
c.*676T>C (n.*676T>C)
c.747T>C (p.Leu249=)
c.717T>C (p.Leu239=)
c.621T>C (p.Leu207=)
c.693T>C (p.Leu231=)
c.402T>C (p.Leu134=)
c.306T>C (p.Leu102=)
n.2253T>C
n.1109T>C
c.1383T>C (p.Leu461=)
c.1437T>C (p.Leu479=)
5g.68295289T>GCA444672788PIK3R1c.810T>G (p.Leu270=)
c.900T>G (p.Leu300=)
c.1710T>G (p.Leu570=)
c.*680T>G (n.*680T>G)
c.1635T>G (p.Leu545=)
c.1185T>G (p.Leu395=)
n.1351T>G
c.*676T>G (n.*676T>G)
c.747T>G (p.Leu249=)
c.717T>G (p.Leu239=)
c.621T>G (p.Leu207=)
c.693T>G (p.Leu231=)
c.402T>G (p.Leu134=)
c.306T>G (p.Leu102=)
n.2253T>G
n.1109T>G
c.1383T>G (p.Leu461=)
c.1437T>G (p.Leu479=)
5g.68295289_68295300delCA645556607PIK3R1c.810_821del (p.Ile271_Arg274del)
c.900_911del (p.Ile301_Arg304del)
c.1710_1721del (p.Ile571_Arg574del)
c.*680_*691del (n.*680_*691del)
c.1635_1646del (p.Ile546_Arg549del)
c.1185_1196del (p.Ile396_Arg399del)
n.1351_1362del
c.*676_*687del (n.*676_*687del)
c.747_758del (p.Ile250_Arg253del)
c.717_728del (p.Ile240_Arg243del)
c.621_632del (p.Ile208_Arg211del)
c.693_704del (p.Ile232_Arg235del)
c.402_413del (p.Ile135_Arg138del)
c.306_317del (p.Ile103_Arg106del)
n.2253_2264del
n.1109_1120del
c.1383_1394del (p.Ile462_Arg465del)
c.1437_1448del (p.Ile480_Arg483del)
 COSMIC COSMIC COSMIC
5g.68295290A>CCA359883084PIK3R1c.811A>C (p.Ile271Leu)
c.901A>C (p.Ile301Leu)
c.1711A>C (p.Ile571Leu)
c.*681A>C (n.*681A>C)
c.1636A>C (p.Ile546Leu)
c.1186A>C (p.Ile396Leu)
n.1352A>C
c.*677A>C (n.*677A>C)
c.748A>C (p.Ile250Leu)
c.718A>C (p.Ile240Leu)
c.622A>C (p.Ile208Leu)
c.694A>C (p.Ile232Leu)
c.403A>C (p.Ile135Leu)
c.307A>C (p.Ile103Leu)
n.2254A>C
n.1110A>C
c.1384A>C (p.Ile462Leu)
c.1438A>C (p.Ile480Leu)
5g.68295290A>GCA359883085PIK3R1c.811A>G (p.Ile271Val)
c.901A>G (p.Ile301Val)
c.1711A>G (p.Ile571Val)
c.*681A>G (n.*681A>G)
c.1636A>G (p.Ile546Val)
c.1186A>G (p.Ile396Val)
n.1352A>G
c.*677A>G (n.*677A>G)
c.748A>G (p.Ile250Val)
c.718A>G (p.Ile240Val)
c.622A>G (p.Ile208Val)
c.694A>G (p.Ile232Val)
c.403A>G (p.Ile135Val)
c.307A>G (p.Ile103Val)
n.2254A>G
n.1110A>G
c.1384A>G (p.Ile462Val)
c.1438A>G (p.Ile480Val)
5g.68295290A>TCA359883086PIK3R1c.811A>T (p.Ile271Phe)
c.901A>T (p.Ile301Phe)
c.1711A>T (p.Ile571Phe)
c.*681A>T (n.*681A>T)
c.1636A>T (p.Ile546Phe)
c.1186A>T (p.Ile396Phe)
n.1352A>T
c.*677A>T (n.*677A>T)
c.748A>T (p.Ile250Phe)
c.718A>T (p.Ile240Phe)
c.622A>T (p.Ile208Phe)
c.694A>T (p.Ile232Phe)
c.403A>T (p.Ile135Phe)
c.307A>T (p.Ile103Phe)
n.2254A>T
n.1110A>T
c.1384A>T (p.Ile462Phe)
c.1438A>T (p.Ile480Phe)
5g.68295291T>ACA359883087PIK3R1c.812T>A (p.Ile271Asn)
c.902T>A (p.Ile301Asn)
c.1712T>A (p.Ile571Asn)
c.*682T>A (n.*682T>A)
c.1637T>A (p.Ile546Asn)
c.1187T>A (p.Ile396Asn)
n.1353T>A
c.*678T>A (n.*678T>A)
c.749T>A (p.Ile250Asn)
c.719T>A (p.Ile240Asn)
c.623T>A (p.Ile208Asn)
c.695T>A (p.Ile232Asn)
c.404T>A (p.Ile135Asn)
c.308T>A (p.Ile103Asn)
n.2255T>A
n.1111T>A
c.1385T>A (p.Ile462Asn)
c.1439T>A (p.Ile480Asn)
5g.68295291T>CCA359883088PIK3R1c.812T>C (p.Ile271Thr)
c.902T>C (p.Ile301Thr)
c.1712T>C (p.Ile571Thr)
c.*682T>C (n.*682T>C)
c.1637T>C (p.Ile546Thr)
c.1187T>C (p.Ile396Thr)
n.1353T>C
c.*678T>C (n.*678T>C)
c.749T>C (p.Ile250Thr)
c.719T>C (p.Ile240Thr)
c.623T>C (p.Ile208Thr)
c.695T>C (p.Ile232Thr)
c.404T>C (p.Ile135Thr)
c.308T>C (p.Ile103Thr)
n.2255T>C
n.1111T>C
c.1385T>C (p.Ile462Thr)
c.1439T>C (p.Ile480Thr)
5g.68295291T>GCA359883089PIK3R1c.812T>G (p.Ile271Ser)
c.902T>G (p.Ile301Ser)
c.1712T>G (p.Ile571Ser)
c.*682T>G (n.*682T>G)
c.1637T>G (p.Ile546Ser)
c.1187T>G (p.Ile396Ser)
n.1353T>G
c.*678T>G (n.*678T>G)
c.749T>G (p.Ile250Ser)
c.719T>G (p.Ile240Ser)
c.623T>G (p.Ile208Ser)
c.695T>G (p.Ile232Ser)
c.404T>G (p.Ile135Ser)
c.308T>G (p.Ile103Ser)
n.2255T>G
n.1111T>G
c.1385T>G (p.Ile462Ser)
c.1439T>G (p.Ile480Ser)
5g.68295292C>ACA444672795PIK3R1c.813C>A (p.Ile271=)
c.903C>A (p.Ile301=)
c.1713C>A (p.Ile571=)
c.*683C>A (n.*683C>A)
c.1638C>A (p.Ile546=)
c.1188C>A (p.Ile396=)
n.1354C>A
c.*679C>A (n.*679C>A)
c.750C>A (p.Ile250=)
c.720C>A (p.Ile240=)
c.624C>A (p.Ile208=)
c.696C>A (p.Ile232=)
c.405C>A (p.Ile135=)
c.309C>A (p.Ile103=)
n.2256C>A
n.1112C>A
c.1386C>A (p.Ile462=)
c.1440C>A (p.Ile480=)
 dbSNP
5g.68295292C>GCA359883090PIK3R1c.813C>G (p.Ile271Met)
c.903C>G (p.Ile301Met)
c.1713C>G (p.Ile571Met)
c.*683C>G (n.*683C>G)
c.1638C>G (p.Ile546Met)
c.1188C>G (p.Ile396Met)
n.1354C>G
c.*679C>G (n.*679C>G)
c.750C>G (p.Ile250Met)
c.720C>G (p.Ile240Met)
c.624C>G (p.Ile208Met)
c.696C>G (p.Ile232Met)
c.405C>G (p.Ile135Met)
c.309C>G (p.Ile103Met)
n.2256C>G
n.1112C>G
c.1386C>G (p.Ile462Met)
c.1440C>G (p.Ile480Met)
 dbSNP
5g.68295292C>TCA444672798PIK3R1c.813C>T (p.Ile271=)
c.903C>T (p.Ile301=)
c.1713C>T (p.Ile571=)
c.*683C>T (n.*683C>T)
c.1638C>T (p.Ile546=)
c.1188C>T (p.Ile396=)
n.1354C>T
c.*679C>T (n.*679C>T)
c.750C>T (p.Ile250=)
c.720C>T (p.Ile240=)
c.624C>T (p.Ile208=)
c.696C>T (p.Ile232=)
c.405C>T (p.Ile135=)
c.309C>T (p.Ile103=)
n.2256C>T
n.1112C>T
c.1386C>T (p.Ile462=)
c.1440C>T (p.Ile480=)
 dbSNP COSMIC
5g.68295293_68295294insGCCCA645556608PIK3R1c.814_815insGCC (p.Ile271_Gln272insArg)
c.904_905insGCC (p.Ile301_Gln302insArg)
c.1714_1715insGCC (p.Ile571_Gln572insArg)
c.*684_*685insGCC (n.*684_*685insGCC)
c.1639_1640insGCC (p.Ile546_Gln547insArg)
c.1189_1190insGCC (p.Ile396_Gln397insArg)
n.1355_1356insGCC
c.*680_*681insGCC (n.*680_*681insGCC)
c.751_752insGCC (p.Ile250_Gln251insArg)
c.721_722insGCC (p.Ile240_Gln241insArg)
c.625_626insGCC (p.Ile208_Gln209insArg)
c.697_698insGCC (p.Ile232_Gln233insArg)
c.406_407insGCC (p.Ile135_Gln136insArg)
c.310_311insGCC (p.Ile103_Gln104insArg)
n.2257_2258insGCC
n.1113_1114insGCC
c.1387_1388insGCC (p.Ile462_Gln463insArg)
c.1441_1442insGCC (p.Ile480_Gln481insArg)
 COSMIC COSMIC COSMIC
5g.68295293C>ACA359883091PIK3R1c.814C>A (p.Gln272Lys)
c.904C>A (p.Gln302Lys)
c.1714C>A (p.Gln572Lys)
c.*684C>A (n.*684C>A)
c.1639C>A (p.Gln547Lys)
c.1189C>A (p.Gln397Lys)
n.1355C>A
c.*680C>A (n.*680C>A)
c.751C>A (p.Gln251Lys)
c.721C>A (p.Gln241Lys)
c.625C>A (p.Gln209Lys)
c.697C>A (p.Gln233Lys)
c.406C>A (p.Gln136Lys)
c.310C>A (p.Gln104Lys)
n.2257C>A
n.1113C>A
c.1387C>A (p.Gln463Lys)
c.1441C>A (p.Gln481Lys)
5g.68295293C=CA1553406174PIK3R1c.814C= (p.Gln272=)
c.904C= (p.Gln302=)
c.1714C= (p.Gln572=)
c.*684C= (n.*684C=)
c.1639C= (p.Gln547=)
c.1189C= (p.Gln397=)
n.1355C=
c.*680C= (n.*680C=)
c.751C= (p.Gln251=)
c.721C= (p.Gln241=)
c.625C= (p.Gln209=)
c.697C= (p.Gln233=)
c.406C= (p.Gln136=)
c.310C= (p.Gln104=)
n.2257C=
n.1113C=
c.1387C= (p.Gln463=)
c.1441C= (p.Gln481=)
5g.68295293C>GCA359883092PIK3R1c.814C>G (p.Gln272Glu)
c.904C>G (p.Gln302Glu)
c.1714C>G (p.Gln572Glu)
c.*684C>G (n.*684C>G)
c.1639C>G (p.Gln547Glu)
c.1189C>G (p.Gln397Glu)
n.1355C>G
c.*680C>G (n.*680C>G)
c.751C>G (p.Gln251Glu)
c.721C>G (p.Gln241Glu)
c.625C>G (p.Gln209Glu)
c.697C>G (p.Gln233Glu)
c.406C>G (p.Gln136Glu)
c.310C>G (p.Gln104Glu)
n.2257C>G
n.1113C>G
c.1387C>G (p.Gln463Glu)
c.1441C>G (p.Gln481Glu)
 dbSNP
5g.68295293C>TCA359883093PIK3R1c.814C>T (p.Gln272Ter)
c.904C>T (p.Gln302Ter)
c.1714C>T (p.Gln572Ter)
c.*684C>T (n.*684C>T)
c.1639C>T (p.Gln547Ter)
c.1189C>T (p.Gln397Ter)
n.1355C>T
c.*680C>T (n.*680C>T)
c.751C>T (p.Gln251Ter)
c.721C>T (p.Gln241Ter)
c.625C>T (p.Gln209Ter)
c.697C>T (p.Gln233Ter)
c.406C>T (p.Gln136Ter)
c.310C>T (p.Gln104Ter)
n.2257C>T
n.1113C>T
c.1387C>T (p.Gln463Ter)
c.1441C>T (p.Gln481Ter)
 dbSNP gnomAD v2 COSMIC COSMIC COSMIC
5g.68295294A>CCA359883094PIK3R1c.815A>C (p.Gln272Pro)
c.905A>C (p.Gln302Pro)
c.1715A>C (p.Gln572Pro)
c.*685A>C (n.*685A>C)
c.1640A>C (p.Gln547Pro)
c.1190A>C (p.Gln397Pro)
n.1356A>C
c.*681A>C (n.*681A>C)
c.752A>C (p.Gln251Pro)
c.722A>C (p.Gln241Pro)
c.626A>C (p.Gln209Pro)
c.698A>C (p.Gln233Pro)
c.407A>C (p.Gln136Pro)
c.311A>C (p.Gln104Pro)
n.2258A>C
n.1114A>C
c.1388A>C (p.Gln463Pro)
c.1442A>C (p.Gln481Pro)
5g.68295294A>GCA359883095PIK3R1c.815A>G (p.Gln272Arg)
c.905A>G (p.Gln302Arg)
c.1715A>G (p.Gln572Arg)
c.*685A>G (n.*685A>G)
c.1640A>G (p.Gln547Arg)
c.1190A>G (p.Gln397Arg)
n.1356A>G
c.*681A>G (n.*681A>G)
c.752A>G (p.Gln251Arg)
c.722A>G (p.Gln241Arg)
c.626A>G (p.Gln209Arg)
c.698A>G (p.Gln233Arg)
c.407A>G (p.Gln136Arg)
c.311A>G (p.Gln104Arg)
n.2258A>G
n.1114A>G
c.1388A>G (p.Gln463Arg)
c.1442A>G (p.Gln481Arg)
 COSMIC COSMIC COSMIC
5g.68295294A>TCA359883096PIK3R1c.815A>T (p.Gln272Leu)
c.905A>T (p.Gln302Leu)
c.1715A>T (p.Gln572Leu)
c.*685A>T (n.*685A>T)
c.1640A>T (p.Gln547Leu)
c.1190A>T (p.Gln397Leu)
n.1356A>T
c.*681A>T (n.*681A>T)
c.752A>T (p.Gln251Leu)
c.722A>T (p.Gln241Leu)
c.626A>T (p.Gln209Leu)
c.698A>T (p.Gln233Leu)
c.407A>T (p.Gln136Leu)
c.311A>T (p.Gln104Leu)
n.2258A>T
n.1114A>T
c.1388A>T (p.Gln463Leu)
c.1442A>T (p.Gln481Leu)
 dbSNP
5g.68295295G>ACA444672804PIK3R1c.816G>A (p.Gln272=)
c.906G>A (p.Gln302=)
c.1716G>A (p.Gln572=)
c.*686G>A (n.*686G>A)
c.1641G>A (p.Gln547=)
c.1191G>A (p.Gln397=)
n.1357G>A
c.*682G>A (n.*682G>A)
c.753G>A (p.Gln251=)
c.723G>A (p.Gln241=)
c.627G>A (p.Gln209=)
c.699G>A (p.Gln233=)
c.408G>A (p.Gln136=)
c.312G>A (p.Gln104=)
n.2259G>A
n.1115G>A
c.1389G>A (p.Gln463=)
c.1443G>A (p.Gln481=)
 dbSNP
5g.68295295G>CCA359883097PIK3R1c.816G>C (p.Gln272His)
c.906G>C (p.Gln302His)
c.1716G>C (p.Gln572His)
c.*686G>C (n.*686G>C)
c.1641G>C (p.Gln547His)
c.1191G>C (p.Gln397His)
n.1357G>C
c.*682G>C (n.*682G>C)
c.753G>C (p.Gln251His)
c.723G>C (p.Gln241His)
c.627G>C (p.Gln209His)
c.699G>C (p.Gln233His)
c.408G>C (p.Gln136His)
c.312G>C (p.Gln104His)
n.2259G>C
n.1115G>C
c.1389G>C (p.Gln463His)
c.1443G>C (p.Gln481His)
 dbSNP
5g.68295295G>TCA359883098PIK3R1c.816G>T (p.Gln272His)
c.906G>T (p.Gln302His)
c.1716G>T (p.Gln572His)
c.*686G>T (n.*686G>T)
c.1641G>T (p.Gln547His)
c.1191G>T (p.Gln397His)
n.1357G>T
c.*682G>T (n.*682G>T)
c.753G>T (p.Gln251His)
c.723G>T (p.Gln241His)
c.627G>T (p.Gln209His)
c.699G>T (p.Gln233His)
c.408G>T (p.Gln136His)
c.312G>T (p.Gln104His)
n.2259G>T
n.1115G>T
c.1389G>T (p.Gln463His)
c.1443G>T (p.Gln481His)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
5g.68295296_68295298delCA645556609PIK3R1c.817_819del (p.Leu273del)
c.907_909del (p.Leu303del)
c.1717_1719del (p.Leu573del)
c.*687_*689del (n.*687_*689del)
c.1642_1644del (p.Leu548del)
c.1192_1194del (p.Leu398del)
n.1358_1360del
c.*683_*685del (n.*683_*685del)
c.754_756del (p.Leu252del)
c.724_726del (p.Leu242del)
c.628_630del (p.Leu210del)
c.700_702del (p.Leu234del)
c.409_411del (p.Leu137del)
c.313_315del (p.Leu105del)
n.2260_2262del
n.1116_1118del
c.1390_1392del (p.Leu464del)
c.1444_1446del (p.Leu482del)
 COSMIC COSMIC COSMIC
5g.68295296C>ACA359883099PIK3R1c.817C>A (p.Leu273Met)
c.907C>A (p.Leu303Met)
c.1717C>A (p.Leu573Met)
c.*687C>A (n.*687C>A)
c.1642C>A (p.Leu548Met)
c.1192C>A (p.Leu398Met)
n.1358C>A
c.*683C>A (n.*683C>A)
c.754C>A (p.Leu252Met)
c.724C>A (p.Leu242Met)
c.628C>A (p.Leu210Met)
c.700C>A (p.Leu234Met)
c.409C>A (p.Leu137Met)
c.313C>A (p.Leu105Met)
n.2260C>A
n.1116C>A
c.1390C>A (p.Leu464Met)
c.1444C>A (p.Leu482Met)
 dbSNP
5g.68295296C>GCA359883100PIK3R1c.817C>G (p.Leu273Val)
c.907C>G (p.Leu303Val)
c.1717C>G (p.Leu573Val)
c.*687C>G (n.*687C>G)
c.1642C>G (p.Leu548Val)
c.1192C>G (p.Leu398Val)
n.1358C>G
c.*683C>G (n.*683C>G)
c.754C>G (p.Leu252Val)
c.724C>G (p.Leu242Val)
c.628C>G (p.Leu210Val)
c.700C>G (p.Leu234Val)
c.409C>G (p.Leu137Val)
c.313C>G (p.Leu105Val)
n.2260C>G
n.1116C>G
c.1390C>G (p.Leu464Val)
c.1444C>G (p.Leu482Val)
 dbSNP
5g.68295296C>TCA444672807PIK3R1c.817C>T (p.Leu273=)
c.907C>T (p.Leu303=)
c.1717C>T (p.Leu573=)
c.*687C>T (n.*687C>T)
c.1642C>T (p.Leu548=)
c.1192C>T (p.Leu398=)
n.1358C>T
c.*683C>T (n.*683C>T)
c.754C>T (p.Leu252=)
c.724C>T (p.Leu242=)
c.628C>T (p.Leu210=)
c.700C>T (p.Leu234=)
c.409C>T (p.Leu137=)
c.313C>T (p.Leu105=)
n.2260C>T
n.1116C>T
c.1390C>T (p.Leu464=)
c.1444C>T (p.Leu482=)
 dbSNP
5g.68295296_68295301delCA645556610PIK3R1c.817_822del (p.Leu273_Arg274del)
c.907_912del (p.Leu303_Arg304del)
c.1717_1722del (p.Leu573_Arg574del)
c.*687_*692del (n.*687_*692del)
c.1642_1647del (p.Leu548_Arg549del)
c.1192_1197del (p.Leu398_Arg399del)
n.1358_1363del
c.*683_*688del (n.*683_*688del)
c.754_759del (p.Leu252_Arg253del)
c.724_729del (p.Leu242_Arg243del)
c.628_633del (p.Leu210_Arg211del)
c.700_705del (p.Leu234_Arg235del)
c.409_414del (p.Leu137_Arg138del)
c.313_318del (p.Leu105_Arg106del)
n.2260_2265del
n.1116_1121del
c.1390_1395del (p.Leu464_Arg465del)
c.1444_1449del (p.Leu482_Arg483del)
 dbSNP COSMIC COSMIC COSMIC
5g.68295297T>ACA359883101PIK3R1c.818T>A (p.Leu273Gln)
c.908T>A (p.Leu303Gln)
c.1718T>A (p.Leu573Gln)
c.*688T>A (n.*688T>A)
c.1643T>A (p.Leu548Gln)
c.1193T>A (p.Leu398Gln)
n.1359T>A
c.*684T>A (n.*684T>A)
c.755T>A (p.Leu252Gln)
c.725T>A (p.Leu242Gln)
c.629T>A (p.Leu210Gln)
c.701T>A (p.Leu234Gln)
c.410T>A (p.Leu137Gln)
c.314T>A (p.Leu105Gln)
n.2261T>A
n.1117T>A
c.1391T>A (p.Leu464Gln)
c.1445T>A (p.Leu482Gln)
 dbSNP
5g.68295297T>CCA359883102PIK3R1c.818T>C (p.Leu273Pro)
c.908T>C (p.Leu303Pro)
c.1718T>C (p.Leu573Pro)
c.*688T>C (n.*688T>C)
c.1643T>C (p.Leu548Pro)
c.1193T>C (p.Leu398Pro)
n.1359T>C
c.*684T>C (n.*684T>C)
c.755T>C (p.Leu252Pro)
c.725T>C (p.Leu242Pro)
c.629T>C (p.Leu210Pro)
c.701T>C (p.Leu234Pro)
c.410T>C (p.Leu137Pro)
c.314T>C (p.Leu105Pro)
n.2261T>C
n.1117T>C
c.1391T>C (p.Leu464Pro)
c.1445T>C (p.Leu482Pro)
 ClinVar dbSNP COSMIC COSMIC COSMIC
5g.68295297T>GCA3290461PIK3R1c.818T>G (p.Leu273Arg)
c.908T>G (p.Leu303Arg)
c.1718T>G (p.Leu573Arg)
c.*688T>G (n.*688T>G)
c.1643T>G (p.Leu548Arg)
c.1193T>G (p.Leu398Arg)
n.1359T>G
c.*684T>G (n.*684T>G)
c.755T>G (p.Leu252Arg)
c.725T>G (p.Leu242Arg)
c.629T>G (p.Leu210Arg)
c.701T>G (p.Leu234Arg)
c.410T>G (p.Leu137Arg)
c.314T>G (p.Leu105Arg)
n.2261T>G
n.1117T>G
c.1391T>G (p.Leu464Arg)
c.1445T>G (p.Leu482Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.68295297T=CA1553406175PIK3R1c.818T= (p.Leu273=)
c.908T= (p.Leu303=)
c.1718T= (p.Leu573=)
c.*688T= (n.*688T=)
c.1643T= (p.Leu548=)
c.1193T= (p.Leu398=)
n.1359T=
c.*684T= (n.*684T=)
c.755T= (p.Leu252=)
c.725T= (p.Leu242=)
c.629T= (p.Leu210=)
c.701T= (p.Leu234=)
c.410T= (p.Leu137=)
c.314T= (p.Leu105=)
n.2261T=
n.1117T=
c.1391T= (p.Leu464=)
c.1445T= (p.Leu482=)
5g.68295297_68295302dupCA645556611PIK3R1c.818_823dup (p.Arg274_Lys275insMetArg)
c.908_913dup (p.Arg304_Lys305insMetArg)
c.1718_1723dup (p.Arg574_Lys575insMetArg)
c.*688_*693dup (n.*688_*693dup)
c.1643_1648dup (p.Arg549_Lys550insMetArg)
c.1193_1198dup (p.Arg399_Lys400insMetArg)
n.1359_1364dup
c.*684_*689dup (n.*684_*689dup)
c.755_760dup (p.Arg253_Lys254insMetArg)
c.725_730dup (p.Arg243_Lys244insMetArg)
c.629_634dup (p.Arg211_Lys212insMetArg)
c.701_706dup (p.Arg235_Lys236insMetArg)
c.410_415dup (p.Arg138_Lys139insMetArg)
c.314_319dup (p.Arg106_Lys107insMetArg)
n.2261_2266dup
n.1117_1122dup
c.1391_1396dup (p.Arg465_Lys466insMetArg)
c.1445_1450dup (p.Arg483_Lys484insMetArg)
 COSMIC
5g.68295298G>ACA444672811PIK3R1c.819G>A (p.Leu273=)
c.909G>A (p.Leu303=)
c.1719G>A (p.Leu573=)
c.*689G>A (n.*689G>A)
c.1644G>A (p.Leu548=)
c.1194G>A (p.Leu398=)
n.1360G>A
c.*685G>A (n.*685G>A)
c.756G>A (p.Leu252=)
c.726G>A (p.Leu242=)
c.630G>A (p.Leu210=)
c.702G>A (p.Leu234=)
c.411G>A (p.Leu137=)
c.315G>A (p.Leu105=)
n.2262G>A
n.1118G>A
c.1392G>A (p.Leu464=)
c.1446G>A (p.Leu482=)
 ClinVar dbSNP
5g.68295298G>CCA444672812PIK3R1c.819G>C (p.Leu273=)
c.909G>C (p.Leu303=)
c.1719G>C (p.Leu573=)
c.*689G>C (n.*689G>C)
c.1644G>C (p.Leu548=)
c.1194G>C (p.Leu398=)
n.1360G>C
c.*685G>C (n.*685G>C)
c.756G>C (p.Leu252=)
c.726G>C (p.Leu242=)
c.630G>C (p.Leu210=)
c.702G>C (p.Leu234=)
c.411G>C (p.Leu137=)
c.315G>C (p.Leu105=)
n.2262G>C
n.1118G>C
c.1392G>C (p.Leu464=)
c.1446G>C (p.Leu482=)
 dbSNP
5g.68295298G>TCA444672813PIK3R1c.819G>T (p.Leu273=)
c.909G>T (p.Leu303=)
c.1719G>T (p.Leu573=)
c.*689G>T (n.*689G>T)
c.1644G>T (p.Leu548=)
c.1194G>T (p.Leu398=)
n.1360G>T
c.*685G>T (n.*685G>T)
c.756G>T (p.Leu252=)
c.726G>T (p.Leu242=)
c.630G>T (p.Leu210=)
c.702G>T (p.Leu234=)
c.411G>T (p.Leu137=)
c.315G>T (p.Leu105=)
n.2262G>T
n.1118G>T
c.1392G>T (p.Leu464=)
c.1446G>T (p.Leu482=)
5g.68295298_68295300delCA645556614PIK3R1c.819_821del (p.Arg274del)
c.909_911del (p.Arg304del)
c.1719_1721del (p.Arg574del)
c.*689_*691del (n.*689_*691del)
c.1644_1646del (p.Arg549del)
c.1194_1196del (p.Arg399del)
n.1360_1362del
c.*685_*687del (n.*685_*687del)
c.756_758del (p.Arg253del)
c.726_728del (p.Arg243del)
c.630_632del (p.Arg211del)
c.702_704del (p.Arg235del)
c.411_413del (p.Arg138del)
c.315_317del (p.Arg106del)
n.2262_2264del
n.1118_1120del
c.1392_1394del (p.Arg465del)
c.1446_1448del (p.Arg483del)
 dbSNP COSMIC COSMIC COSMIC
5g.68295300_68295301delCA645556613PIK3R1c.821_822del (p.Arg274LysfsTer27)
c.911_912del (p.Arg304LysfsTer27)
c.1721_1722del (p.Arg574LysfsTer27)
c.*691_*692del (n.*691_*692del)
c.1646_1647del (p.Arg549LysfsTer27)
c.1196_1197del (p.Arg399LysfsTer27)
n.1362_1363del
c.*687_*688del (n.*687_*688del)
c.758_759del (p.Arg253LysfsTer27)
c.728_729del (p.Arg243LysfsTer27)
c.632_633del (p.Arg211LysfsTer27)
c.704_705del (p.Arg235LysfsTer27)
c.413_414del (p.Arg138LysfsTer27)
c.317_318del (p.Arg106LysfsTer27)
n.2264_2265del
n.1120_1121del
c.1394_1395del (p.Arg465LysfsTer27)
c.1448_1449del (p.Arg483LysfsTer27)
 COSMIC COSMIC COSMIC
5g.68295302_68295310delCA645556612PIK3R1c.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
5g.68295299A>CCA444672814PIK3R1c.820A>C (p.Arg274=)
c.910A>C (p.Arg304=)
c.1720A>C (p.Arg574=)
c.*690A>C (n.*690A>C)
c.1645A>C (p.Arg549=)
c.1195A>C (p.Arg399=)
n.1361A>C
c.*686A>C (n.*686A>C)
c.757A>C (p.Arg253=)
c.727A>C (p.Arg243=)
c.631A>C (p.Arg211=)
c.703A>C (p.Arg235=)
c.412A>C (p.Arg138=)
c.316A>C (p.Arg106=)
n.2263A>C
n.1119A>C
c.1393A>C (p.Arg465=)
c.1447A>C (p.Arg483=)
5g.68295299A>GCA359883103PIK3R1c.820A>G (p.Arg274Gly)
c.910A>G (p.Arg304Gly)
c.1720A>G (p.Arg574Gly)
c.*690A>G (n.*690A>G)
c.1645A>G (p.Arg549Gly)
c.1195A>G (p.Arg399Gly)
n.1361A>G
c.*686A>G (n.*686A>G)
c.757A>G (p.Arg253Gly)
c.727A>G (p.Arg243Gly)
c.631A>G (p.Arg211Gly)
c.703A>G (p.Arg235Gly)
c.412A>G (p.Arg138Gly)
c.316A>G (p.Arg106Gly)
n.2263A>G
n.1119A>G
c.1393A>G (p.Arg465Gly)
c.1447A>G (p.Arg483Gly)
 dbSNP
5g.68295299A>TCA359883104PIK3R1c.820A>T (p.Arg274Ter)
c.910A>T (p.Arg304Ter)
c.1720A>T (p.Arg574Ter)
c.*690A>T (n.*690A>T)
c.1645A>T (p.Arg549Ter)
c.1195A>T (p.Arg399Ter)
n.1361A>T
c.*686A>T (n.*686A>T)
c.757A>T (p.Arg253Ter)
c.727A>T (p.Arg243Ter)
c.631A>T (p.Arg211Ter)
c.703A>T (p.Arg235Ter)
c.412A>T (p.Arg138Ter)
c.316A>T (p.Arg106Ter)
n.2263A>T
n.1119A>T
c.1393A>T (p.Arg465Ter)
c.1447A>T (p.Arg483Ter)
 dbSNP
5g.68295300_68295302delCA645556616PIK3R1c.821_823del (p.Arg274del)
c.911_913del (p.Arg304del)
c.1721_1723del (p.Arg574del)
c.*691_*693del (n.*691_*693del)
c.1646_1648del (p.Arg549del)
c.1196_1198del (p.Arg399del)
n.1362_1364del
c.*687_*689del (n.*687_*689del)
c.758_760del (p.Arg253del)
c.728_730del (p.Arg243del)
c.632_634del (p.Arg211del)
c.704_706del (p.Arg235del)
c.413_415del (p.Arg138del)
c.317_319del (p.Arg106del)
n.2264_2266del
n.1120_1122del
c.1394_1396del (p.Arg465del)
c.1448_1450del (p.Arg483del)
 COSMIC COSMIC COSMIC
5g.68295301_68295329delCA645556615PIK3R1c.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
5g.68295300G>ACA359883105PIK3R1c.821G>A (p.Arg274Lys)
c.911G>A (p.Arg304Lys)
c.1721G>A (p.Arg574Lys)
c.*691G>A (n.*691G>A)
c.1646G>A (p.Arg549Lys)
c.1196G>A (p.Arg399Lys)
n.1362G>A
c.*687G>A (n.*687G>A)
c.758G>A (p.Arg253Lys)
c.728G>A (p.Arg243Lys)
c.632G>A (p.Arg211Lys)
c.704G>A (p.Arg235Lys)
c.413G>A (p.Arg138Lys)
c.317G>A (p.Arg106Lys)
n.2264G>A
n.1120G>A
c.1394G>A (p.Arg465Lys)
c.1448G>A (p.Arg483Lys)
 dbSNP
5g.68295300G>CCA359883106PIK3R1c.821G>C (p.Arg274Thr)
c.911G>C (p.Arg304Thr)
c.1721G>C (p.Arg574Thr)
c.*691G>C (n.*691G>C)
c.1646G>C (p.Arg549Thr)
c.1196G>C (p.Arg399Thr)
n.1362G>C
c.*687G>C (n.*687G>C)
c.758G>C (p.Arg253Thr)
c.728G>C (p.Arg243Thr)
c.632G>C (p.Arg211Thr)
c.704G>C (p.Arg235Thr)
c.413G>C (p.Arg138Thr)
c.317G>C (p.Arg106Thr)
n.2264G>C
n.1120G>C
c.1394G>C (p.Arg465Thr)
c.1448G>C (p.Arg483Thr)
 dbSNP COSMIC COSMIC COSMIC
5g.68295300G>TCA359883107PIK3R1c.821G>T (p.Arg274Ile)
c.911G>T (p.Arg304Ile)
c.1721G>T (p.Arg574Ile)
c.*691G>T (n.*691G>T)
c.1646G>T (p.Arg549Ile)
c.1196G>T (p.Arg399Ile)
n.1362G>T
c.*687G>T (n.*687G>T)
c.758G>T (p.Arg253Ile)
c.728G>T (p.Arg243Ile)
c.632G>T (p.Arg211Ile)
c.704G>T (p.Arg235Ile)
c.413G>T (p.Arg138Ile)
c.317G>T (p.Arg106Ile)
n.2264G>T
n.1120G>T
c.1394G>T (p.Arg465Ile)
c.1448G>T (p.Arg483Ile)
 dbSNP COSMIC COSMIC COSMIC
5g.68295301A>CCA359883108PIK3R1c.822A>C (p.Arg274Ser)
c.912A>C (p.Arg304Ser)
c.1722A>C (p.Arg574Ser)
c.*692A>C (n.*692A>C)
c.1647A>C (p.Arg549Ser)
c.1197A>C (p.Arg399Ser)
n.1363A>C
c.*688A>C (n.*688A>C)
c.759A>C (p.Arg253Ser)
c.729A>C (p.Arg243Ser)
c.633A>C (p.Arg211Ser)
c.705A>C (p.Arg235Ser)
c.414A>C (p.Arg138Ser)
c.318A>C (p.Arg106Ser)
n.2265A>C
n.1121A>C
c.1395A>C (p.Arg465Ser)
c.1449A>C (p.Arg483Ser)
5g.68295301A>GCA444672819PIK3R1c.822A>G (p.Arg274=)
c.912A>G (p.Arg304=)
c.1722A>G (p.Arg574=)
c.*692A>G (n.*692A>G)
c.1647A>G (p.Arg549=)
c.1197A>G (p.Arg399=)
n.1363A>G
c.*688A>G (n.*688A>G)
c.759A>G (p.Arg253=)
c.729A>G (p.Arg243=)
c.633A>G (p.Arg211=)
c.705A>G (p.Arg235=)
c.414A>G (p.Arg138=)
c.318A>G (p.Arg106=)
n.2265A>G
n.1121A>G
c.1395A>G (p.Arg465=)
c.1449A>G (p.Arg483=)
5g.68295301A>TCA359883109PIK3R1c.822A>T (p.Arg274Ser)
c.912A>T (p.Arg304Ser)
c.1722A>T (p.Arg574Ser)
c.*692A>T (n.*692A>T)
c.1647A>T (p.Arg549Ser)
c.1197A>T (p.Arg399Ser)
n.1363A>T
c.*688A>T (n.*688A>T)
c.759A>T (p.Arg253Ser)
c.729A>T (p.Arg243Ser)
c.633A>T (p.Arg211Ser)
c.705A>T (p.Arg235Ser)
c.414A>T (p.Arg138Ser)
c.318A>T (p.Arg106Ser)
n.2265A>T
n.1121A>T
c.1395A>T (p.Arg465Ser)
c.1449A>T (p.Arg483Ser)
 dbSNP
5g.68295303dupCA444672818PIK3R1c.824dup (p.Thr276AspfsTer26)
c.914dup (p.Thr306AspfsTer26)
c.1724dup (p.Thr576AspfsTer26)
c.*694dup (n.*694dup)
c.1649dup (p.Thr551AspfsTer26)
c.1199dup (p.Thr401AspfsTer26)
n.1365dup
c.*690dup (n.*690dup)
c.761dup (p.Thr255AspfsTer26)
c.731dup (p.Thr245AspfsTer26)
c.635dup (p.Thr213AspfsTer26)
c.707dup (p.Thr237AspfsTer26)
c.416dup (p.Thr140AspfsTer26)
c.320dup (p.Thr108AspfsTer26)
n.2267dup
n.1123dup
c.1397dup (p.Thr467AspfsTer26)
c.1451dup (p.Thr485AspfsTer26)
 COSMIC COSMIC COSMIC
5g.68295302A>CCA359883111PIK3R1c.823A>C (p.Lys275Gln)
c.913A>C (p.Lys305Gln)
c.1723A>C (p.Lys575Gln)
c.*693A>C (n.*693A>C)
c.1648A>C (p.Lys550Gln)
c.1198A>C (p.Lys400Gln)
n.1364A>C
c.*689A>C (n.*689A>C)
c.760A>C (p.Lys254Gln)
c.730A>C (p.Lys244Gln)
c.634A>C (p.Lys212Gln)
c.706A>C (p.Lys236Gln)
c.415A>C (p.Lys139Gln)
c.319A>C (p.Lys107Gln)
n.2266A>C
n.1122A>C
c.1396A>C (p.Lys466Gln)
c.1450A>C (p.Lys484Gln)
5g.68295302A>GCA359883112PIK3R1c.823A>G (p.Lys275Glu)
c.913A>G (p.Lys305Glu)
c.1723A>G (p.Lys575Glu)
c.*693A>G (n.*693A>G)
c.1648A>G (p.Lys550Glu)
c.1198A>G (p.Lys400Glu)
n.1364A>G
c.*689A>G (n.*689A>G)
c.760A>G (p.Lys254Glu)
c.730A>G (p.Lys244Glu)
c.634A>G (p.Lys212Glu)
c.706A>G (p.Lys236Glu)
c.415A>G (p.Lys139Glu)
c.319A>G (p.Lys107Glu)
n.2266A>G
n.1122A>G
c.1396A>G (p.Lys466Glu)
c.1450A>G (p.Lys484Glu)
5g.68295302A>TCA359883110PIK3R1c.823A>T (p.Lys275Ter)
c.913A>T (p.Lys305Ter)
c.1723A>T (p.Lys575Ter)
c.*693A>T (n.*693A>T)
c.1648A>T (p.Lys550Ter)
c.1198A>T (p.Lys400Ter)
n.1364A>T
c.*689A>T (n.*689A>T)
c.760A>T (p.Lys254Ter)
c.730A>T (p.Lys244Ter)
c.634A>T (p.Lys212Ter)
c.706A>T (p.Lys236Ter)
c.415A>T (p.Lys139Ter)
c.319A>T (p.Lys107Ter)
n.2266A>T
n.1122A>T
c.1396A>T (p.Lys466Ter)
c.1450A>T (p.Lys484Ter)
5g.68295303_68295308delCA645556617PIK3R1c.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
5g.68295303A>CCA359883113PIK3R1c.824A>C (p.Lys275Thr)
c.914A>C (p.Lys305Thr)
c.1724A>C (p.Lys575Thr)
c.*694A>C (n.*694A>C)
c.1649A>C (p.Lys550Thr)
c.1199A>C (p.Lys400Thr)
n.1365A>C
c.*690A>C (n.*690A>C)
c.761A>C (p.Lys254Thr)
c.731A>C (p.Lys244Thr)
c.635A>C (p.Lys212Thr)
c.707A>C (p.Lys236Thr)
c.416A>C (p.Lys139Thr)
c.320A>C (p.Lys107Thr)
n.2267A>C
n.1123A>C
c.1397A>C (p.Lys466Thr)
c.1451A>C (p.Lys484Thr)
5g.68295303A>GCA359883114PIK3R1c.824A>G (p.Lys275Arg)
c.914A>G (p.Lys305Arg)
c.1724A>G (p.Lys575Arg)
c.*694A>G (n.*694A>G)
c.1649A>G (p.Lys550Arg)
c.1199A>G (p.Lys400Arg)
n.1365A>G
c.*690A>G (n.*690A>G)
c.761A>G (p.Lys254Arg)
c.731A>G (p.Lys244Arg)
c.635A>G (p.Lys212Arg)
c.707A>G (p.Lys236Arg)
c.416A>G (p.Lys139Arg)
c.320A>G (p.Lys107Arg)
n.2267A>G
n.1123A>G
c.1397A>G (p.Lys466Arg)
c.1451A>G (p.Lys484Arg)
5g.68295303A>TCA359883115PIK3R1c.824A>T (p.Lys275Met)
c.914A>T (p.Lys305Met)
c.1724A>T (p.Lys575Met)
c.*694A>T (n.*694A>T)
c.1649A>T (p.Lys550Met)
c.1199A>T (p.Lys400Met)
n.1365A>T
c.*690A>T (n.*690A>T)
c.761A>T (p.Lys254Met)
c.731A>T (p.Lys244Met)
c.635A>T (p.Lys212Met)
c.707A>T (p.Lys236Met)
c.416A>T (p.Lys139Met)
c.320A>T (p.Lys107Met)
n.2267A>T
n.1123A>T
c.1397A>T (p.Lys466Met)
c.1451A>T (p.Lys484Met)
5g.68295303_68295304insAGACA645556618PIK3R1c.824_825insAGA (p.Lys275_Thr276insGlu)
c.914_915insAGA (p.Lys305_Thr306insGlu)
c.1724_1725insAGA (p.Lys575_Thr576insGlu)
c.*694_*695insAGA (n.*694_*695insAGA)
c.1649_1650insAGA (p.Lys550_Thr551insGlu)
c.1199_1200insAGA (p.Lys400_Thr401insGlu)
n.1365_1366insAGA
c.*690_*691insAGA (n.*690_*691insAGA)
c.761_762insAGA (p.Lys254_Thr255insGlu)
c.731_732insAGA (p.Lys244_Thr245insGlu)
c.635_636insAGA (p.Lys212_Thr213insGlu)
c.707_708insAGA (p.Lys236_Thr237insGlu)
c.416_417insAGA (p.Lys139_Thr140insGlu)
c.320_321insAGA (p.Lys107_Thr108insGlu)
n.2267_2268insAGA
n.1123_1124insAGA
c.1397_1398insAGA (p.Lys466_Thr467insGlu)
c.1451_1452insAGA (p.Lys484_Thr485insGlu)
 COSMIC COSMIC COSMIC
5g.68295303_68295306delinsAGACCA1553406176PIK3R1c.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=)

Number of alleles fetched