UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.68295254_68295272del | CA645556593 | PIK3R1 | c.775_793del (p.Ile259AlafsTer9) c.865_883del (p.Ile289AlafsTer9) c.1675_1693del (p.Ile559AlafsTer9) c.*645_*663del (n.*645_*663del) c.1600_1618del (p.Ile534AlafsTer9) c.1150_1168del (p.Ile384AlafsTer9) n.1316_1334del c.*641_*659del (n.*641_*659del) c.712_730del (p.Ile238AlafsTer9) c.682_700del (p.Ile228AlafsTer9) c.586_604del (p.Ile196AlafsTer9) c.658_676del (p.Ile220AlafsTer9) c.367_385del (p.Ile123AlafsTer9) c.271_289del (p.Ile91AlafsTer9) n.2218_2236del n.1074_1092del c.1348_1366del (p.Ile450AlafsTer9) c.1402_1420del (p.Ile468AlafsTer9) | COSMIC COSMIC COSMIC |
| 5 | g.68295255_68295273delinsTTGACAAACGTATGAACAG | CA1553406162 | PIK3R1 | c.776_794delinsTTGACAAACGTATGAACAG (p.Ile259=) c.866_884delinsTTGACAAACGTATGAACAG (p.Ile289=) c.1676_1694delinsTTGACAAACGTATGAACAG (p.Ile559=) c.*646_*664delinsTTGACAAACGTATGAACAG (n.*646_*664delinsTTGACAAACGTATGAACAG) c.1601_1619delinsTTGACAAACGTATGAACAG (p.Ile534=) c.1151_1169delinsTTGACAAACGTATGAACAG (p.Ile384=) n.1317_1335delinsTTGACAAACGTATGAACAG c.*642_*660delinsTTGACAAACGTATGAACAG (n.*642_*660delinsTTGACAAACGTATGAACAG) c.713_731delinsTTGACAAACGTATGAACAG (p.Ile238=) c.683_701delinsTTGACAAACGTATGAACAG (p.Ile228=) c.587_605delinsTTGACAAACGTATGAACAG (p.Ile196=) c.659_677delinsTTGACAAACGTATGAACAG (p.Ile220=) c.368_386delinsTTGACAAACGTATGAACAG (p.Ile123=) c.272_290delinsTTGACAAACGTATGAACAG (p.Ile91=) n.2219_2237delinsTTGACAAACGTATGAACAG n.1075_1093delinsTTGACAAACGTATGAACAG c.1349_1367delinsTTGACAAACGTATGAACAG (p.Ile450=) c.1403_1421delinsTTGACAAACGTATGAACAG (p.Ile468=) | |
| 5 | g.68295256_68295273del | CA3290458 | PIK3R1 | c.777_794del (p.Asp260_Ser265del) c.867_884del (p.Asp290_Ser295del) c.1677_1694del (p.Asp560_Ser565del) c.*647_*664del (n.*647_*664del) c.1602_1619del (p.Asp535_Ser540del) c.1152_1169del (p.Asp385_Ser390del) n.1318_1335del c.*643_*660del (n.*643_*660del) c.714_731del (p.Asp239_Ser244del) c.684_701del (p.Asp229_Ser234del) c.588_605del (p.Asp197_Ser202del) c.660_677del (p.Asp221_Ser226del) c.369_386del (p.Asp124_Ser129del) c.273_290del (p.Asp92_Ser97del) n.2220_2237del n.1076_1093del c.1350_1367del (p.Asp451_Ser456del) c.1404_1421del (p.Asp469_Ser474del) | dbSNP ExAC |
| 5 | g.68295256_68295274delinsTGACAAACGTATGAACAGC | CA1553406163 | PIK3R1 | c.777_795delinsTGACAAACGTATGAACAGC (p.Ile259=) c.867_885delinsTGACAAACGTATGAACAGC (p.Ile289=) c.1677_1695delinsTGACAAACGTATGAACAGC (p.Ile559=) c.*647_*665delinsTGACAAACGTATGAACAGC (n.*647_*665delinsTGACAAACGTATGAACAGC) c.1602_1620delinsTGACAAACGTATGAACAGC (p.Ile534=) c.1152_1170delinsTGACAAACGTATGAACAGC (p.Ile384=) n.1318_1336delinsTGACAAACGTATGAACAGC c.*643_*661delinsTGACAAACGTATGAACAGC (n.*643_*661delinsTGACAAACGTATGAACAGC) c.714_732delinsTGACAAACGTATGAACAGC (p.Ile238=) c.684_702delinsTGACAAACGTATGAACAGC (p.Ile228=) c.588_606delinsTGACAAACGTATGAACAGC (p.Ile196=) c.660_678delinsTGACAAACGTATGAACAGC (p.Ile220=) c.369_387delinsTGACAAACGTATGAACAGC (p.Ile123=) c.273_291delinsTGACAAACGTATGAACAGC (p.Ile91=) n.2220_2238delinsTGACAAACGTATGAACAGC n.1076_1094delinsTGACAAACGTATGAACAGC c.1350_1368delinsTGACAAACGTATGAACAGC (p.Ile450=) c.1404_1422delinsTGACAAACGTATGAACAGC (p.Ile468=) | |
| 5 | g.68295257_68295274del | CA16602709 | PIK3R1 | c.778_795del (p.Asp260_Ser265del) c.868_885del (p.Asp290_Ser295del) c.1678_1695del (p.Asp560_Ser565del) c.*648_*665del (n.*648_*665del) c.1603_1620del (p.Asp535_Ser540del) c.1153_1170del (p.Asp385_Ser390del) n.1319_1336del c.*644_*661del (n.*644_*661del) c.715_732del (p.Asp239_Ser244del) c.685_702del (p.Asp229_Ser234del) c.589_606del (p.Asp197_Ser202del) c.661_678del (p.Asp221_Ser226del) c.370_387del (p.Asp124_Ser129del) c.274_291del (p.Asp92_Ser97del) n.2221_2238del n.1077_1094del c.1351_1368del (p.Asp451_Ser456del) c.1405_1422del (p.Asp469_Ser474del) | ClinVar dbSNP |
| 5 | g.68295268_68295288del | CA645556595 | PIK3R1 | c.789_809del (p.Met263_Leu270delinsIle) c.879_899del (p.Met293_Leu300delinsIle) c.1689_1709del (p.Met563_Leu570delinsIle) c.*659_*679del (n.*659_*679del) c.1614_1634del (p.Met538_Leu545delinsIle) c.1164_1184del (p.Met388_Leu395delinsIle) n.1330_1350del c.*655_*675del (n.*655_*675del) c.726_746del (p.Met242_Leu249delinsIle) c.696_716del (p.Met232_Leu239delinsIle) c.600_620del (p.Met200_Leu207delinsIle) c.672_692del (p.Met224_Leu231delinsIle) c.381_401del (p.Met127_Leu134delinsIle) c.285_305del (p.Met95_Leu102delinsIle) n.2232_2252del n.1088_1108del c.1362_1382del (p.Met454_Leu461delinsIle) c.1416_1436del (p.Met472_Leu479delinsIle) | COSMIC COSMIC COSMIC |
| 5 | g.68295271C>A | CA16602528 | PIK3R1 | c.792C>A (p.Asn264Lys) c.882C>A (p.Asn294Lys) c.1692C>A (p.Asn564Lys) c.*662C>A (n.*662C>A) c.1617C>A (p.Asn539Lys) c.1167C>A (p.Asn389Lys) n.1333C>A c.*658C>A (n.*658C>A) c.729C>A (p.Asn243Lys) c.699C>A (p.Asn233Lys) c.603C>A (p.Asn201Lys) c.675C>A (p.Asn225Lys) c.384C>A (p.Asn128Lys) c.288C>A (p.Asn96Lys) n.2235C>A n.1091C>A c.1365C>A (p.Asn455Lys) c.1419C>A (p.Asn473Lys) | ClinVar dbSNP |
| 5 | g.68295271C= | CA1553406169 | PIK3R1 | c.792C= (p.Asn264=) c.882C= (p.Asn294=) c.1692C= (p.Asn564=) c.*662C= (n.*662C=) c.1617C= (p.Asn539=) c.1167C= (p.Asn389=) n.1333C= c.*658C= (n.*658C=) c.729C= (p.Asn243=) c.699C= (p.Asn233=) c.603C= (p.Asn201=) c.675C= (p.Asn225=) c.384C= (p.Asn128=) c.288C= (p.Asn96=) n.2235C= n.1091C= c.1365C= (p.Asn455=) c.1419C= (p.Asn473=) | |
| 5 | g.68295271C>G | CA16602529 | PIK3R1 | c.792C>G (p.Asn264Lys) c.882C>G (p.Asn294Lys) c.1692C>G (p.Asn564Lys) c.*662C>G (n.*662C>G) c.1617C>G (p.Asn539Lys) c.1167C>G (p.Asn389Lys) n.1333C>G c.*658C>G (n.*658C>G) c.729C>G (p.Asn243Lys) c.699C>G (p.Asn233Lys) c.603C>G (p.Asn201Lys) c.675C>G (p.Asn225Lys) c.384C>G (p.Asn128Lys) c.288C>G (p.Asn96Lys) n.2235C>G n.1091C>G c.1365C>G (p.Asn455Lys) c.1419C>G (p.Asn473Lys) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 5 | g.68295271C>T | CA3290460 | PIK3R1 | c.792C>T (p.Asn264=) c.882C>T (p.Asn294=) c.1692C>T (p.Asn564=) c.*662C>T (n.*662C>T) c.1617C>T (p.Asn539=) c.1167C>T (p.Asn389=) n.1333C>T c.*658C>T (n.*658C>T) c.729C>T (p.Asn243=) c.699C>T (p.Asn233=) c.603C>T (p.Asn201=) c.675C>T (p.Asn225=) c.384C>T (p.Asn128=) c.288C>T (p.Asn96=) n.2235C>T n.1091C>T c.1365C>T (p.Asn455=) c.1419C>T (p.Asn473=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.68295271_68295276del | CA2674090562 | PIK3R1 | c.792_797del (p.Ser265_Ile266del) c.882_887del (p.Ser295_Ile296del) c.1692_1697del (p.Ser565_Ile566del) c.*662_*667del (n.*662_*667del) c.1617_1622del (p.Ser540_Ile541del) c.1167_1172del (p.Ser390_Ile391del) n.1333_1338del c.*658_*663del (n.*658_*663del) c.729_734del (p.Ser244_Ile245del) c.699_704del (p.Ser234_Ile235del) c.603_608del (p.Ser202_Ile203del) c.675_680del (p.Ser226_Ile227del) c.384_389del (p.Ser129_Ile130del) c.288_293del (p.Ser97_Ile98del) n.2235_2240del n.1091_1096del c.1365_1370del (p.Ser456_Ile457del) c.1419_1424del (p.Ser474_Ile475del) | gnomAD v4 |
| 5 | g.68295272A>C | CA359883041 | PIK3R1 | c.793A>C (p.Ser265Arg) c.883A>C (p.Ser295Arg) c.1693A>C (p.Ser565Arg) c.*663A>C (n.*663A>C) c.1618A>C (p.Ser540Arg) c.1168A>C (p.Ser390Arg) n.1334A>C c.*659A>C (n.*659A>C) c.730A>C (p.Ser244Arg) c.700A>C (p.Ser234Arg) c.604A>C (p.Ser202Arg) c.676A>C (p.Ser226Arg) c.385A>C (p.Ser129Arg) c.289A>C (p.Ser97Arg) n.2236A>C n.1092A>C c.1366A>C (p.Ser456Arg) c.1420A>C (p.Ser474Arg) | |
| 5 | g.68295272A>G | CA359883042 | PIK3R1 | c.793A>G (p.Ser265Gly) c.883A>G (p.Ser295Gly) c.1693A>G (p.Ser565Gly) c.*663A>G (n.*663A>G) c.1618A>G (p.Ser540Gly) c.1168A>G (p.Ser390Gly) n.1334A>G c.*659A>G (n.*659A>G) c.730A>G (p.Ser244Gly) c.700A>G (p.Ser234Gly) c.604A>G (p.Ser202Gly) c.676A>G (p.Ser226Gly) c.385A>G (p.Ser129Gly) c.289A>G (p.Ser97Gly) n.2236A>G n.1092A>G c.1366A>G (p.Ser456Gly) c.1420A>G (p.Ser474Gly) | |
| 5 | g.68295272A>T | CA359883043 | PIK3R1 | c.793A>T (p.Ser265Cys) c.883A>T (p.Ser295Cys) c.1693A>T (p.Ser565Cys) c.*663A>T (n.*663A>T) c.1618A>T (p.Ser540Cys) c.1168A>T (p.Ser390Cys) n.1334A>T c.*659A>T (n.*659A>T) c.730A>T (p.Ser244Cys) c.700A>T (p.Ser234Cys) c.604A>T (p.Ser202Cys) c.676A>T (p.Ser226Cys) c.385A>T (p.Ser129Cys) c.289A>T (p.Ser97Cys) n.2236A>T n.1092A>T c.1366A>T (p.Ser456Cys) c.1420A>T (p.Ser474Cys) | dbSNP |
| 5 | g.68295273G>A | CA359883044 | PIK3R1 | c.794G>A (p.Ser265Asn) c.884G>A (p.Ser295Asn) c.1694G>A (p.Ser565Asn) c.*664G>A (n.*664G>A) c.1619G>A (p.Ser540Asn) c.1169G>A (p.Ser390Asn) n.1335G>A c.*660G>A (n.*660G>A) c.731G>A (p.Ser244Asn) c.701G>A (p.Ser234Asn) c.605G>A (p.Ser202Asn) c.677G>A (p.Ser226Asn) c.386G>A (p.Ser129Asn) c.290G>A (p.Ser97Asn) n.2237G>A n.1093G>A c.1367G>A (p.Ser456Asn) c.1421G>A (p.Ser474Asn) | dbSNP COSMIC COSMIC COSMIC |
| 5 | g.68295273G>C | CA359883045 | PIK3R1 | c.794G>C (p.Ser265Thr) c.884G>C (p.Ser295Thr) c.1694G>C (p.Ser565Thr) c.*664G>C (n.*664G>C) c.1619G>C (p.Ser540Thr) c.1169G>C (p.Ser390Thr) n.1335G>C c.*660G>C (n.*660G>C) c.731G>C (p.Ser244Thr) c.701G>C (p.Ser234Thr) c.605G>C (p.Ser202Thr) c.677G>C (p.Ser226Thr) c.386G>C (p.Ser129Thr) c.290G>C (p.Ser97Thr) n.2237G>C n.1093G>C c.1367G>C (p.Ser456Thr) c.1421G>C (p.Ser474Thr) | dbSNP |
| 5 | g.68295273G>T | CA359883046 | PIK3R1 | c.794G>T (p.Ser265Ile) c.884G>T (p.Ser295Ile) c.1694G>T (p.Ser565Ile) c.*664G>T (n.*664G>T) c.1619G>T (p.Ser540Ile) c.1169G>T (p.Ser390Ile) n.1335G>T c.*660G>T (n.*660G>T) c.731G>T (p.Ser244Ile) c.701G>T (p.Ser234Ile) c.605G>T (p.Ser202Ile) c.677G>T (p.Ser226Ile) c.386G>T (p.Ser129Ile) c.290G>T (p.Ser97Ile) n.2237G>T n.1093G>T c.1367G>T (p.Ser456Ile) c.1421G>T (p.Ser474Ile) | COSMIC COSMIC COSMIC |
| 5 | g.68295274C>A | CA359883047 | PIK3R1 | c.795C>A (p.Ser265Arg) c.885C>A (p.Ser295Arg) c.1695C>A (p.Ser565Arg) c.*665C>A (n.*665C>A) c.1620C>A (p.Ser540Arg) c.1170C>A (p.Ser390Arg) n.1336C>A c.*661C>A (n.*661C>A) c.732C>A (p.Ser244Arg) c.702C>A (p.Ser234Arg) c.606C>A (p.Ser202Arg) c.678C>A (p.Ser226Arg) c.387C>A (p.Ser129Arg) c.291C>A (p.Ser97Arg) n.2238C>A n.1094C>A c.1368C>A (p.Ser456Arg) c.1422C>A (p.Ser474Arg) | dbSNP COSMIC COSMIC COSMIC |
| 5 | g.68295274C= | CA1553406170 | PIK3R1 | c.795C= (p.Ser265=) c.885C= (p.Ser295=) c.1695C= (p.Ser565=) c.*665C= (n.*665C=) c.1620C= (p.Ser540=) c.1170C= (p.Ser390=) n.1336C= c.*661C= (n.*661C=) c.732C= (p.Ser244=) c.702C= (p.Ser234=) c.606C= (p.Ser202=) c.678C= (p.Ser226=) c.387C= (p.Ser129=) c.291C= (p.Ser97=) n.2238C= n.1094C= c.1368C= (p.Ser456=) c.1422C= (p.Ser474=) | |
| 5 | g.68295274C>G | CA359883048 | PIK3R1 | c.795C>G (p.Ser265Arg) c.885C>G (p.Ser295Arg) c.1695C>G (p.Ser565Arg) c.*665C>G (n.*665C>G) c.1620C>G (p.Ser540Arg) c.1170C>G (p.Ser390Arg) n.1336C>G c.*661C>G (n.*661C>G) c.732C>G (p.Ser244Arg) c.702C>G (p.Ser234Arg) c.606C>G (p.Ser202Arg) c.678C>G (p.Ser226Arg) c.387C>G (p.Ser129Arg) c.291C>G (p.Ser97Arg) n.2238C>G n.1094C>G c.1368C>G (p.Ser456Arg) c.1422C>G (p.Ser474Arg) | dbSNP COSMIC COSMIC COSMIC |
| 5 | g.68295274C>T | CA444672745 | PIK3R1 | c.795C>T (p.Ser265=) c.885C>T (p.Ser295=) c.1695C>T (p.Ser565=) c.*665C>T (n.*665C>T) c.1620C>T (p.Ser540=) c.1170C>T (p.Ser390=) n.1336C>T c.*661C>T (n.*661C>T) c.732C>T (p.Ser244=) c.702C>T (p.Ser234=) c.606C>T (p.Ser202=) c.678C>T (p.Ser226=) c.387C>T (p.Ser129=) c.291C>T (p.Ser97=) n.2238C>T n.1094C>T c.1368C>T (p.Ser456=) c.1422C>T (p.Ser474=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.68295275A>C | CA359883051 | PIK3R1 | c.796A>C (p.Ile266Leu) c.886A>C (p.Ile296Leu) c.1696A>C (p.Ile566Leu) c.*666A>C (n.*666A>C) c.1621A>C (p.Ile541Leu) c.1171A>C (p.Ile391Leu) n.1337A>C c.*662A>C (n.*662A>C) c.733A>C (p.Ile245Leu) c.703A>C (p.Ile235Leu) c.607A>C (p.Ile203Leu) c.679A>C (p.Ile227Leu) c.388A>C (p.Ile130Leu) c.292A>C (p.Ile98Leu) n.2239A>C n.1095A>C c.1369A>C (p.Ile457Leu) c.1423A>C (p.Ile475Leu) | |
| 5 | g.68295275A>G | CA359883050 | PIK3R1 | c.796A>G (p.Ile266Val) c.886A>G (p.Ile296Val) c.1696A>G (p.Ile566Val) c.*666A>G (n.*666A>G) c.1621A>G (p.Ile541Val) c.1171A>G (p.Ile391Val) n.1337A>G c.*662A>G (n.*662A>G) c.733A>G (p.Ile245Val) c.703A>G (p.Ile235Val) c.607A>G (p.Ile203Val) c.679A>G (p.Ile227Val) c.388A>G (p.Ile130Val) c.292A>G (p.Ile98Val) n.2239A>G n.1095A>G c.1369A>G (p.Ile457Val) c.1423A>G (p.Ile475Val) | gnomAD v4 |
| 5 | g.68295275A>T | CA359883049 | PIK3R1 | c.796A>T (p.Ile266Phe) c.886A>T (p.Ile296Phe) c.1696A>T (p.Ile566Phe) c.*666A>T (n.*666A>T) c.1621A>T (p.Ile541Phe) c.1171A>T (p.Ile391Phe) n.1337A>T c.*662A>T (n.*662A>T) c.733A>T (p.Ile245Phe) c.703A>T (p.Ile235Phe) c.607A>T (p.Ile203Phe) c.679A>T (p.Ile227Phe) c.388A>T (p.Ile130Phe) c.292A>T (p.Ile98Phe) n.2239A>T n.1095A>T c.1369A>T (p.Ile457Phe) c.1423A>T (p.Ile475Phe) | |
| 5 | g.68295276T>A | CA359883052 | PIK3R1 | c.797T>A (p.Ile266Asn) c.887T>A (p.Ile296Asn) c.1697T>A (p.Ile566Asn) c.*667T>A (n.*667T>A) c.1622T>A (p.Ile541Asn) c.1172T>A (p.Ile391Asn) n.1338T>A c.*663T>A (n.*663T>A) c.734T>A (p.Ile245Asn) c.704T>A (p.Ile235Asn) c.608T>A (p.Ile203Asn) c.680T>A (p.Ile227Asn) c.389T>A (p.Ile130Asn) c.293T>A (p.Ile98Asn) n.2240T>A n.1096T>A c.1370T>A (p.Ile457Asn) c.1424T>A (p.Ile475Asn) | dbSNP |
| 5 | g.68295276T>C | CA359883053 | PIK3R1 | c.797T>C (p.Ile266Thr) c.887T>C (p.Ile296Thr) c.1697T>C (p.Ile566Thr) c.*667T>C (n.*667T>C) c.1622T>C (p.Ile541Thr) c.1172T>C (p.Ile391Thr) n.1338T>C c.*663T>C (n.*663T>C) c.734T>C (p.Ile245Thr) c.704T>C (p.Ile235Thr) c.608T>C (p.Ile203Thr) c.680T>C (p.Ile227Thr) c.389T>C (p.Ile130Thr) c.293T>C (p.Ile98Thr) n.2240T>C n.1096T>C c.1370T>C (p.Ile457Thr) c.1424T>C (p.Ile475Thr) | |
| 5 | g.68295276T>G | CA359883054 | PIK3R1 | c.797T>G (p.Ile266Ser) c.887T>G (p.Ile296Ser) c.1697T>G (p.Ile566Ser) c.*667T>G (n.*667T>G) c.1622T>G (p.Ile541Ser) c.1172T>G (p.Ile391Ser) n.1338T>G c.*663T>G (n.*663T>G) c.734T>G (p.Ile245Ser) c.704T>G (p.Ile235Ser) c.608T>G (p.Ile203Ser) c.680T>G (p.Ile227Ser) c.389T>G (p.Ile130Ser) c.293T>G (p.Ile98Ser) n.2240T>G n.1096T>G c.1370T>G (p.Ile457Ser) c.1424T>G (p.Ile475Ser) | |
| 5 | g.68295277del | CA444672751 | PIK3R1 | c.798del (p.Lys267AsnfsTer7) c.888del (p.Lys297AsnfsTer7) c.1698del (p.Lys567AsnfsTer7) c.*668del (n.*668del) c.1623del (p.Lys542AsnfsTer7) c.1173del (p.Lys392AsnfsTer7) n.1339del c.*664del (n.*664del) c.735del (p.Lys246AsnfsTer7) c.705del (p.Lys236AsnfsTer7) c.609del (p.Lys204AsnfsTer7) c.681del (p.Lys228AsnfsTer7) c.390del (p.Lys131AsnfsTer7) c.294del (p.Lys99AsnfsTer7) n.2241del n.1097del c.1371del (p.Lys458AsnfsTer7) c.1425del (p.Lys476AsnfsTer7) | dbSNP COSMIC COSMIC COSMIC |
| 5 | g.68295279_68295290del | CA645556596 | PIK3R1 | c.800_811del (p.Lys267_Leu270del) c.890_901del (p.Lys297_Leu300del) c.1700_1711del (p.Lys567_Leu570del) c.*670_*681del (n.*670_*681del) c.1625_1636del (p.Lys542_Leu545del) c.1175_1186del (p.Lys392_Leu395del) n.1341_1352del c.*666_*677del (n.*666_*677del) c.737_748del (p.Lys246_Leu249del) c.707_718del (p.Lys236_Leu239del) c.611_622del (p.Lys204_Leu207del) c.683_694del (p.Lys228_Leu231del) c.392_403del (p.Lys131_Leu134del) c.296_307del (p.Lys99_Leu102del) n.2243_2254del n.1099_1110del c.1373_1384del (p.Lys458_Leu461del) c.1427_1438del (p.Lys476_Leu479del) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 5 | g.68295277T>A | CA444672752 | PIK3R1 | c.798T>A (p.Ile266=) c.888T>A (p.Ile296=) c.1698T>A (p.Ile566=) c.*668T>A (n.*668T>A) c.1623T>A (p.Ile541=) c.1173T>A (p.Ile391=) n.1339T>A c.*664T>A (n.*664T>A) c.735T>A (p.Ile245=) c.705T>A (p.Ile235=) c.609T>A (p.Ile203=) c.681T>A (p.Ile227=) c.390T>A (p.Ile130=) c.294T>A (p.Ile98=) n.2241T>A n.1097T>A c.1371T>A (p.Ile457=) c.1425T>A (p.Ile475=) | |
| 5 | g.68295277T>C | CA444672753 | PIK3R1 | c.798T>C (p.Ile266=) c.888T>C (p.Ile296=) c.1698T>C (p.Ile566=) c.*668T>C (n.*668T>C) c.1623T>C (p.Ile541=) c.1173T>C (p.Ile391=) n.1339T>C c.*664T>C (n.*664T>C) c.735T>C (p.Ile245=) c.705T>C (p.Ile235=) c.609T>C (p.Ile203=) c.681T>C (p.Ile227=) c.390T>C (p.Ile130=) c.294T>C (p.Ile98=) n.2241T>C n.1097T>C c.1371T>C (p.Ile457=) c.1425T>C (p.Ile475=) | |
| 5 | g.68295277T>G | CA359883055 | PIK3R1 | c.798T>G (p.Ile266Met) c.888T>G (p.Ile296Met) c.1698T>G (p.Ile566Met) c.*668T>G (n.*668T>G) c.1623T>G (p.Ile541Met) c.1173T>G (p.Ile391Met) n.1339T>G c.*664T>G (n.*664T>G) c.735T>G (p.Ile245Met) c.705T>G (p.Ile235Met) c.609T>G (p.Ile203Met) c.681T>G (p.Ile227Met) c.390T>G (p.Ile130Met) c.294T>G (p.Ile98Met) n.2241T>G n.1097T>G c.1371T>G (p.Ile457Met) c.1425T>G (p.Ile475Met) | |
| 5 | g.68295277_68295279del | CA645556597 | PIK3R1 | c.798_800del (p.Lys267del) c.888_890del (p.Lys297del) c.1698_1700del (p.Lys567del) c.*668_*670del (n.*668_*670del) c.1623_1625del (p.Lys542del) c.1173_1175del (p.Lys392del) n.1339_1341del c.*664_*666del (n.*664_*666del) c.735_737del (p.Lys246del) c.705_707del (p.Lys236del) c.609_611del (p.Lys204del) c.681_683del (p.Lys228del) c.390_392del (p.Lys131del) c.294_296del (p.Lys99del) n.2241_2243del n.1097_1099del c.1371_1373del (p.Lys458del) c.1425_1427del (p.Lys476del) | COSMIC COSMIC COSMIC |
| 5 | g.68295278A= | CA1553406171 | PIK3R1 | c.799A= (p.Lys267=) c.889A= (p.Lys297=) c.1699A= (p.Lys567=) c.*669A= (n.*669A=) c.1624A= (p.Lys542=) c.1174A= (p.Lys392=) n.1340A= c.*665A= (n.*665A=) c.736A= (p.Lys246=) c.706A= (p.Lys236=) c.610A= (p.Lys204=) c.682A= (p.Lys228=) c.391A= (p.Lys131=) c.295A= (p.Lys99=) n.2242A= n.1098A= c.1372A= (p.Lys458=) c.1426A= (p.Lys476=) | |
| 5 | g.68295278A>C | CA359883056 | PIK3R1 | c.799A>C (p.Lys267Gln) c.889A>C (p.Lys297Gln) c.1699A>C (p.Lys567Gln) c.*669A>C (n.*669A>C) c.1624A>C (p.Lys542Gln) c.1174A>C (p.Lys392Gln) n.1340A>C c.*665A>C (n.*665A>C) c.736A>C (p.Lys246Gln) c.706A>C (p.Lys236Gln) c.610A>C (p.Lys204Gln) c.682A>C (p.Lys228Gln) c.391A>C (p.Lys131Gln) c.295A>C (p.Lys99Gln) n.2242A>C n.1098A>C c.1372A>C (p.Lys458Gln) c.1426A>C (p.Lys476Gln) | |
| 5 | g.68295278A>G | CA359883057 | PIK3R1 | c.799A>G (p.Lys267Glu) c.889A>G (p.Lys297Glu) c.1699A>G (p.Lys567Glu) c.*669A>G (n.*669A>G) c.1624A>G (p.Lys542Glu) c.1174A>G (p.Lys392Glu) n.1340A>G c.*665A>G (n.*665A>G) c.736A>G (p.Lys246Glu) c.706A>G (p.Lys236Glu) c.610A>G (p.Lys204Glu) c.682A>G (p.Lys228Glu) c.391A>G (p.Lys131Glu) c.295A>G (p.Lys99Glu) n.2242A>G n.1098A>G c.1372A>G (p.Lys458Glu) c.1426A>G (p.Lys476Glu) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 5 | g.68295278A>T | CA359883058 | PIK3R1 | c.799A>T (p.Lys267Ter) c.889A>T (p.Lys297Ter) c.1699A>T (p.Lys567Ter) c.*669A>T (n.*669A>T) c.1624A>T (p.Lys542Ter) c.1174A>T (p.Lys392Ter) n.1340A>T c.*665A>T (n.*665A>T) c.736A>T (p.Lys246Ter) c.706A>T (p.Lys236Ter) c.610A>T (p.Lys204Ter) c.682A>T (p.Lys228Ter) c.391A>T (p.Lys131Ter) c.295A>T (p.Lys99Ter) n.2242A>T n.1098A>T c.1372A>T (p.Lys458Ter) c.1426A>T (p.Lys476Ter) | dbSNP |
| 5 | g.68295280dup | CA444672754 | PIK3R1 | c.801dup (p.Pro268ThrfsTer?) c.891dup (p.Pro298ThrfsTer?) c.1701dup (p.Pro568ThrfsTer?) c.*671dup (n.*671dup) c.1626dup (p.Pro543ThrfsTer?) c.1176dup (p.Pro393ThrfsTer?) n.1342dup c.*667dup (n.*667dup) c.738dup (p.Pro247ThrfsTer?) c.708dup (p.Pro237ThrfsTer?) c.612dup (p.Pro205ThrfsTer?) c.684dup (p.Pro229ThrfsTer?) c.393dup (p.Pro132ThrfsTer?) c.297dup (p.Pro100ThrfsTer?) n.2244dup n.1100dup c.1374dup (p.Pro459ThrfsTer?) c.1428dup (p.Pro477ThrfsTer?) | COSMIC COSMIC COSMIC |
| 5 | g.68295280del | CA2709240201 | PIK3R1 | c.801del (p.Lys267AsnfsTer7) c.891del (p.Lys297AsnfsTer7) c.1701del (p.Lys567AsnfsTer7) c.*671del (n.*671del) c.1626del (p.Lys542AsnfsTer7) c.1176del (p.Lys392AsnfsTer7) n.1342del c.*667del (n.*667del) c.738del (p.Lys246AsnfsTer7) c.708del (p.Lys236AsnfsTer7) c.612del (p.Lys204AsnfsTer7) c.684del (p.Lys228AsnfsTer7) c.393del (p.Lys131AsnfsTer7) c.297del (p.Lys99AsnfsTer7) n.2244del n.1100del c.1374del (p.Lys458AsnfsTer7) c.1428del (p.Lys476AsnfsTer7) | dbSNP |
| 5 | g.68295279A>C | CA359883059 | PIK3R1 | c.800A>C (p.Lys267Thr) c.890A>C (p.Lys297Thr) c.1700A>C (p.Lys567Thr) c.*670A>C (n.*670A>C) c.1625A>C (p.Lys542Thr) c.1175A>C (p.Lys392Thr) n.1341A>C c.*666A>C (n.*666A>C) c.737A>C (p.Lys246Thr) c.707A>C (p.Lys236Thr) c.611A>C (p.Lys204Thr) c.683A>C (p.Lys228Thr) c.392A>C (p.Lys131Thr) c.296A>C (p.Lys99Thr) n.2243A>C n.1099A>C c.1373A>C (p.Lys458Thr) c.1427A>C (p.Lys476Thr) | |
| 5 | g.68295279A>G | CA359883060 | PIK3R1 | c.800A>G (p.Lys267Arg) c.890A>G (p.Lys297Arg) c.1700A>G (p.Lys567Arg) c.*670A>G (n.*670A>G) c.1625A>G (p.Lys542Arg) c.1175A>G (p.Lys392Arg) n.1341A>G c.*666A>G (n.*666A>G) c.737A>G (p.Lys246Arg) c.707A>G (p.Lys236Arg) c.611A>G (p.Lys204Arg) c.683A>G (p.Lys228Arg) c.392A>G (p.Lys131Arg) c.296A>G (p.Lys99Arg) n.2243A>G n.1099A>G c.1373A>G (p.Lys458Arg) c.1427A>G (p.Lys476Arg) | |
| 5 | g.68295279A>T | CA359883061 | PIK3R1 | c.800A>T (p.Lys267Ile) c.890A>T (p.Lys297Ile) c.1700A>T (p.Lys567Ile) c.*670A>T (n.*670A>T) c.1625A>T (p.Lys542Ile) c.1175A>T (p.Lys392Ile) n.1341A>T c.*666A>T (n.*666A>T) c.737A>T (p.Lys246Ile) c.707A>T (p.Lys236Ile) c.611A>T (p.Lys204Ile) c.683A>T (p.Lys228Ile) c.392A>T (p.Lys131Ile) c.296A>T (p.Lys99Ile) n.2243A>T n.1099A>T c.1373A>T (p.Lys458Ile) c.1427A>T (p.Lys476Ile) | dbSNP |
| 5 | g.68295280_68295290del | CA645556598 | PIK3R1 | c.801_811del (p.Lys267AsnfsTer?) c.891_901del (p.Lys297AsnfsTer?) c.1701_1711del (p.Lys567AsnfsTer?) c.*671_*681del (n.*671_*681del) c.1626_1636del (p.Lys542AsnfsTer?) c.1176_1186del (p.Lys392AsnfsTer?) n.1342_1352del c.*667_*677del (n.*667_*677del) c.738_748del (p.Lys246AsnfsTer?) c.708_718del (p.Lys236AsnfsTer?) c.612_622del (p.Lys204AsnfsTer?) c.684_694del (p.Lys228AsnfsTer?) c.393_403del (p.Lys131AsnfsTer?) c.297_307del (p.Lys99AsnfsTer?) n.2244_2254del n.1100_1110del c.1374_1384del (p.Lys458AsnfsTer?) c.1428_1438del (p.Lys476AsnfsTer?) | COSMIC COSMIC COSMIC |
| 5 | g.68295280A>C | CA359883062 | PIK3R1 | c.801A>C (p.Lys267Asn) c.891A>C (p.Lys297Asn) c.1701A>C (p.Lys567Asn) c.*671A>C (n.*671A>C) c.1626A>C (p.Lys542Asn) c.1176A>C (p.Lys392Asn) n.1342A>C c.*667A>C (n.*667A>C) c.738A>C (p.Lys246Asn) c.708A>C (p.Lys236Asn) c.612A>C (p.Lys204Asn) c.684A>C (p.Lys228Asn) c.393A>C (p.Lys131Asn) c.297A>C (p.Lys99Asn) n.2244A>C n.1100A>C c.1374A>C (p.Lys458Asn) c.1428A>C (p.Lys476Asn) | |
| 5 | g.68295280A>G | CA444672759 | PIK3R1 | c.801A>G (p.Lys267=) c.891A>G (p.Lys297=) c.1701A>G (p.Lys567=) c.*671A>G (n.*671A>G) c.1626A>G (p.Lys542=) c.1176A>G (p.Lys392=) n.1342A>G c.*667A>G (n.*667A>G) c.738A>G (p.Lys246=) c.708A>G (p.Lys236=) c.612A>G (p.Lys204=) c.684A>G (p.Lys228=) c.393A>G (p.Lys131=) c.297A>G (p.Lys99=) n.2244A>G n.1100A>G c.1374A>G (p.Lys458=) c.1428A>G (p.Lys476=) | |
| 5 | g.68295280A>T | CA359883063 | PIK3R1 | c.801A>T (p.Lys267Asn) c.891A>T (p.Lys297Asn) c.1701A>T (p.Lys567Asn) c.*671A>T (n.*671A>T) c.1626A>T (p.Lys542Asn) c.1176A>T (p.Lys392Asn) n.1342A>T c.*667A>T (n.*667A>T) c.738A>T (p.Lys246Asn) c.708A>T (p.Lys236Asn) c.612A>T (p.Lys204Asn) c.684A>T (p.Lys228Asn) c.393A>T (p.Lys131Asn) c.297A>T (p.Lys99Asn) n.2244A>T n.1100A>T c.1374A>T (p.Lys458Asn) c.1428A>T (p.Lys476Asn) | dbSNP |
| 5 | g.68295280_68295306del | CA645556600 | PIK3R1 | c.801_827del (p.Pro268_Thr276del) c.891_917del (p.Pro298_Thr306del) c.1701_1727del (p.Pro568_Thr576del) c.*671_*697del (n.*671_*697del) c.1626_1652del (p.Pro543_Thr551del) c.1176_1202del (p.Pro393_Thr401del) n.1342_1368del c.*667_*693del (n.*667_*693del) c.738_764del (p.Pro247_Thr255del) c.708_734del (p.Pro237_Thr245del) c.612_638del (p.Pro205_Thr213del) c.684_710del (p.Pro229_Thr237del) c.393_419del (p.Pro132_Thr140del) c.297_323del (p.Pro100_Thr108del) n.2244_2270del n.1100_1126del c.1374_1400del (p.Pro459_Thr467del) c.1428_1454del (p.Pro477_Thr485del) | COSMIC |
| 5 | g.68295281C>A | CA359883065 | PIK3R1 | c.802C>A (p.Pro268Thr) c.892C>A (p.Pro298Thr) c.1702C>A (p.Pro568Thr) c.*672C>A (n.*672C>A) c.1627C>A (p.Pro543Thr) c.1177C>A (p.Pro393Thr) n.1343C>A c.*668C>A (n.*668C>A) c.739C>A (p.Pro247Thr) c.709C>A (p.Pro237Thr) c.613C>A (p.Pro205Thr) c.685C>A (p.Pro229Thr) c.394C>A (p.Pro132Thr) c.298C>A (p.Pro100Thr) n.2245C>A n.1101C>A c.1375C>A (p.Pro459Thr) c.1429C>A (p.Pro477Thr) | dbSNP COSMIC COSMIC COSMIC |
| 5 | g.68295281C>G | CA359883066 | PIK3R1 | c.802C>G (p.Pro268Ala) c.892C>G (p.Pro298Ala) c.1702C>G (p.Pro568Ala) c.*672C>G (n.*672C>G) c.1627C>G (p.Pro543Ala) c.1177C>G (p.Pro393Ala) n.1343C>G c.*668C>G (n.*668C>G) c.739C>G (p.Pro247Ala) c.709C>G (p.Pro237Ala) c.613C>G (p.Pro205Ala) c.685C>G (p.Pro229Ala) c.394C>G (p.Pro132Ala) c.298C>G (p.Pro100Ala) n.2245C>G n.1101C>G c.1375C>G (p.Pro459Ala) c.1429C>G (p.Pro477Ala) | dbSNP |
| 5 | g.68295281C>T | CA359883064 | PIK3R1 | c.802C>T (p.Pro268Ser) c.892C>T (p.Pro298Ser) c.1702C>T (p.Pro568Ser) c.*672C>T (n.*672C>T) c.1627C>T (p.Pro543Ser) c.1177C>T (p.Pro393Ser) n.1343C>T c.*668C>T (n.*668C>T) c.739C>T (p.Pro247Ser) c.709C>T (p.Pro237Ser) c.613C>T (p.Pro205Ser) c.685C>T (p.Pro229Ser) c.394C>T (p.Pro132Ser) c.298C>T (p.Pro100Ser) n.2245C>T n.1101C>T c.1375C>T (p.Pro459Ser) c.1429C>T (p.Pro477Ser) | dbSNP |