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.68295171T>A | CA359882583 | PIK3R1 | c.692T>A (p.Leu231Ter) c.782T>A (p.Leu261Ter) c.1592T>A (p.Leu531Ter) c.*562T>A (n.*562T>A) c.1517T>A (p.Leu506Ter) c.1067T>A (p.Leu356Ter) n.1233T>A c.*558T>A (n.*558T>A) c.629T>A (p.Leu210Ter) c.599T>A (p.Leu200Ter) c.503T>A (p.Leu168Ter) c.575T>A (p.Leu192Ter) c.284T>A (p.Leu95Ter) c.188T>A (p.Leu63Ter) n.2135T>A n.991T>A c.1265T>A (p.Leu422Ter) c.1319T>A (p.Leu440Ter) | |
| 5 | g.68295171T>C | CA359882585 | PIK3R1 | c.692T>C (p.Leu231Ser) c.782T>C (p.Leu261Ser) c.1592T>C (p.Leu531Ser) c.*562T>C (n.*562T>C) c.1517T>C (p.Leu506Ser) c.1067T>C (p.Leu356Ser) n.1233T>C c.*558T>C (n.*558T>C) c.629T>C (p.Leu210Ser) c.599T>C (p.Leu200Ser) c.503T>C (p.Leu168Ser) c.575T>C (p.Leu192Ser) c.284T>C (p.Leu95Ser) c.188T>C (p.Leu63Ser) n.2135T>C n.991T>C c.1265T>C (p.Leu422Ser) c.1319T>C (p.Leu440Ser) | |
| 5 | g.68295171T>G | CA359882586 | PIK3R1 | c.692T>G (p.Leu231Trp) c.782T>G (p.Leu261Trp) c.1592T>G (p.Leu531Trp) c.*562T>G (n.*562T>G) c.1517T>G (p.Leu506Trp) c.1067T>G (p.Leu356Trp) n.1233T>G c.*558T>G (n.*558T>G) c.629T>G (p.Leu210Trp) c.599T>G (p.Leu200Trp) c.503T>G (p.Leu168Trp) c.575T>G (p.Leu192Trp) c.284T>G (p.Leu95Trp) c.188T>G (p.Leu63Trp) n.2135T>G n.991T>G c.1265T>G (p.Leu422Trp) c.1319T>G (p.Leu440Trp) | |
| 5 | g.68295172G>A | CA444672526 | PIK3R1 | c.693G>A (p.Leu231=) c.783G>A (p.Leu261=) c.1593G>A (p.Leu531=) c.*563G>A (n.*563G>A) c.1518G>A (p.Leu506=) c.1068G>A (p.Leu356=) n.1234G>A c.*559G>A (n.*559G>A) c.630G>A (p.Leu210=) c.600G>A (p.Leu200=) c.504G>A (p.Leu168=) c.576G>A (p.Leu192=) c.285G>A (p.Leu95=) c.189G>A (p.Leu63=) n.2136G>A n.992G>A c.1266G>A (p.Leu422=) c.1320G>A (p.Leu440=) | |
| 5 | g.68295172G>C | CA359882589 | PIK3R1 | c.693G>C (p.Leu231Phe) c.783G>C (p.Leu261Phe) c.1593G>C (p.Leu531Phe) c.*563G>C (n.*563G>C) c.1518G>C (p.Leu506Phe) c.1068G>C (p.Leu356Phe) n.1234G>C c.*559G>C (n.*559G>C) c.630G>C (p.Leu210Phe) c.600G>C (p.Leu200Phe) c.504G>C (p.Leu168Phe) c.576G>C (p.Leu192Phe) c.285G>C (p.Leu95Phe) c.189G>C (p.Leu63Phe) n.2136G>C n.992G>C c.1266G>C (p.Leu422Phe) c.1320G>C (p.Leu440Phe) | dbSNP |
| 5 | g.68295172G>T | CA359882592 | PIK3R1 | c.693G>T (p.Leu231Phe) c.783G>T (p.Leu261Phe) c.1593G>T (p.Leu531Phe) c.*563G>T (n.*563G>T) c.1518G>T (p.Leu506Phe) c.1068G>T (p.Leu356Phe) n.1234G>T c.*559G>T (n.*559G>T) c.630G>T (p.Leu210Phe) c.600G>T (p.Leu200Phe) c.504G>T (p.Leu168Phe) c.576G>T (p.Leu192Phe) c.285G>T (p.Leu95Phe) c.189G>T (p.Leu63Phe) n.2136G>T n.992G>T c.1266G>T (p.Leu422Phe) c.1320G>T (p.Leu440Phe) | |
| 5 | g.68295173A>C | CA359882594 | PIK3R1 | c.694A>C (p.Lys232Gln) c.784A>C (p.Lys262Gln) c.1594A>C (p.Lys532Gln) c.*564A>C (n.*564A>C) c.1519A>C (p.Lys507Gln) c.1069A>C (p.Lys357Gln) n.1235A>C c.*560A>C (n.*560A>C) c.631A>C (p.Lys211Gln) c.601A>C (p.Lys201Gln) c.505A>C (p.Lys169Gln) c.577A>C (p.Lys193Gln) c.286A>C (p.Lys96Gln) c.190A>C (p.Lys64Gln) n.2137A>C n.993A>C c.1267A>C (p.Lys423Gln) c.1321A>C (p.Lys441Gln) | |
| 5 | g.68295173A>G | CA359882603 | PIK3R1 | c.694A>G (p.Lys232Glu) c.784A>G (p.Lys262Glu) c.1594A>G (p.Lys532Glu) c.*564A>G (n.*564A>G) c.1519A>G (p.Lys507Glu) c.1069A>G (p.Lys357Glu) n.1235A>G c.*560A>G (n.*560A>G) c.631A>G (p.Lys211Glu) c.601A>G (p.Lys201Glu) c.505A>G (p.Lys169Glu) c.577A>G (p.Lys193Glu) c.286A>G (p.Lys96Glu) c.190A>G (p.Lys64Glu) n.2137A>G n.993A>G c.1267A>G (p.Lys423Glu) c.1321A>G (p.Lys441Glu) | |
| 5 | g.68295173A>T | CA359882602 | PIK3R1 | c.694A>T (p.Lys232Ter) c.784A>T (p.Lys262Ter) c.1594A>T (p.Lys532Ter) c.*564A>T (n.*564A>T) c.1519A>T (p.Lys507Ter) c.1069A>T (p.Lys357Ter) n.1235A>T c.*560A>T (n.*560A>T) c.631A>T (p.Lys211Ter) c.601A>T (p.Lys201Ter) c.505A>T (p.Lys169Ter) c.577A>T (p.Lys193Ter) c.286A>T (p.Lys96Ter) c.190A>T (p.Lys64Ter) n.2137A>T n.993A>T c.1267A>T (p.Lys423Ter) c.1321A>T (p.Lys441Ter) | |
| 5 | g.68295174A>C | CA359882611 | PIK3R1 | c.695A>C (p.Lys232Thr) c.785A>C (p.Lys262Thr) c.1595A>C (p.Lys532Thr) c.*565A>C (n.*565A>C) c.1520A>C (p.Lys507Thr) c.1070A>C (p.Lys357Thr) n.1236A>C c.*561A>C (n.*561A>C) c.632A>C (p.Lys211Thr) c.602A>C (p.Lys201Thr) c.506A>C (p.Lys169Thr) c.578A>C (p.Lys193Thr) c.287A>C (p.Lys96Thr) c.191A>C (p.Lys64Thr) n.2138A>C n.994A>C c.1268A>C (p.Lys423Thr) c.1322A>C (p.Lys441Thr) | gnomAD v4 |
| 5 | g.68295174A>G | CA359882612 | PIK3R1 | c.695A>G (p.Lys232Arg) c.785A>G (p.Lys262Arg) c.1595A>G (p.Lys532Arg) c.*565A>G (n.*565A>G) c.1520A>G (p.Lys507Arg) c.1070A>G (p.Lys357Arg) n.1236A>G c.*561A>G (n.*561A>G) c.632A>G (p.Lys211Arg) c.602A>G (p.Lys201Arg) c.506A>G (p.Lys169Arg) c.578A>G (p.Lys193Arg) c.287A>G (p.Lys96Arg) c.191A>G (p.Lys64Arg) n.2138A>G n.994A>G c.1268A>G (p.Lys423Arg) c.1322A>G (p.Lys441Arg) | gnomAD v4 |
| 5 | g.68295174A>T | CA359882615 | PIK3R1 | c.695A>T (p.Lys232Met) c.785A>T (p.Lys262Met) c.1595A>T (p.Lys532Met) c.*565A>T (n.*565A>T) c.1520A>T (p.Lys507Met) c.1070A>T (p.Lys357Met) n.1236A>T c.*561A>T (n.*561A>T) c.632A>T (p.Lys211Met) c.602A>T (p.Lys201Met) c.506A>T (p.Lys169Met) c.578A>T (p.Lys193Met) c.287A>T (p.Lys96Met) c.191A>T (p.Lys64Met) n.2138A>T n.994A>T c.1268A>T (p.Lys423Met) c.1322A>T (p.Lys441Met) | dbSNP |
| 5 | g.68295175G>A | CA444672530 | PIK3R1 | c.696G>A (p.Lys232=) c.786G>A (p.Lys262=) c.1596G>A (p.Lys532=) c.*566G>A (n.*566G>A) c.1521G>A (p.Lys507=) c.1071G>A (p.Lys357=) n.1237G>A c.*562G>A (n.*562G>A) c.633G>A (p.Lys211=) c.603G>A (p.Lys201=) c.507G>A (p.Lys169=) c.579G>A (p.Lys193=) c.288G>A (p.Lys96=) c.192G>A (p.Lys64=) n.2139G>A n.995G>A c.1269G>A (p.Lys423=) c.1323G>A (p.Lys441=) | gnomAD v4 |
| 5 | g.68295175G>C | CA359882619 | PIK3R1 | c.696G>C (p.Lys232Asn) c.786G>C (p.Lys262Asn) c.1596G>C (p.Lys532Asn) c.*566G>C (n.*566G>C) c.1521G>C (p.Lys507Asn) c.1071G>C (p.Lys357Asn) n.1237G>C c.*562G>C (n.*562G>C) c.633G>C (p.Lys211Asn) c.603G>C (p.Lys201Asn) c.507G>C (p.Lys169Asn) c.579G>C (p.Lys193Asn) c.288G>C (p.Lys96Asn) c.192G>C (p.Lys64Asn) n.2139G>C n.995G>C c.1269G>C (p.Lys423Asn) c.1323G>C (p.Lys441Asn) | |
| 5 | g.68295175G>T | CA359882622 | PIK3R1 | c.696G>T (p.Lys232Asn) c.786G>T (p.Lys262Asn) c.1596G>T (p.Lys532Asn) c.*566G>T (n.*566G>T) c.1521G>T (p.Lys507Asn) c.1071G>T (p.Lys357Asn) n.1237G>T c.*562G>T (n.*562G>T) c.633G>T (p.Lys211Asn) c.603G>T (p.Lys201Asn) c.507G>T (p.Lys169Asn) c.579G>T (p.Lys193Asn) c.288G>T (p.Lys96Asn) c.192G>T (p.Lys64Asn) n.2139G>T n.995G>T c.1269G>T (p.Lys423Asn) c.1323G>T (p.Lys441Asn) | dbSNP |
| 5 | g.68295176T>A | CA359882625 | PIK3R1 | c.697T>A (p.Ser233Thr) c.787T>A (p.Ser263Thr) c.1597T>A (p.Ser533Thr) c.*567T>A (n.*567T>A) c.1522T>A (p.Ser508Thr) c.1072T>A (p.Ser358Thr) n.1238T>A c.*563T>A (n.*563T>A) c.634T>A (p.Ser212Thr) c.604T>A (p.Ser202Thr) c.508T>A (p.Ser170Thr) c.580T>A (p.Ser194Thr) c.289T>A (p.Ser97Thr) c.193T>A (p.Ser65Thr) n.2140T>A n.996T>A c.1270T>A (p.Ser424Thr) c.1324T>A (p.Ser442Thr) | dbSNP |
| 5 | g.68295176T>C | CA359882628 | PIK3R1 | c.697T>C (p.Ser233Pro) c.787T>C (p.Ser263Pro) c.1597T>C (p.Ser533Pro) c.*567T>C (n.*567T>C) c.1522T>C (p.Ser508Pro) c.1072T>C (p.Ser358Pro) n.1238T>C c.*563T>C (n.*563T>C) c.634T>C (p.Ser212Pro) c.604T>C (p.Ser202Pro) c.508T>C (p.Ser170Pro) c.580T>C (p.Ser194Pro) c.289T>C (p.Ser97Pro) c.193T>C (p.Ser65Pro) n.2140T>C n.996T>C c.1270T>C (p.Ser424Pro) c.1324T>C (p.Ser442Pro) | |
| 5 | g.68295176T>G | CA359882631 | PIK3R1 | c.697T>G (p.Ser233Ala) c.787T>G (p.Ser263Ala) c.1597T>G (p.Ser533Ala) c.*567T>G (n.*567T>G) c.1522T>G (p.Ser508Ala) c.1072T>G (p.Ser358Ala) n.1238T>G c.*563T>G (n.*563T>G) c.634T>G (p.Ser212Ala) c.604T>G (p.Ser202Ala) c.508T>G (p.Ser170Ala) c.580T>G (p.Ser194Ala) c.289T>G (p.Ser97Ala) c.193T>G (p.Ser65Ala) n.2140T>G n.996T>G c.1270T>G (p.Ser424Ala) c.1324T>G (p.Ser442Ala) | |
| 5 | g.68295177C>A | CA359882633 | PIK3R1 | c.698C>A (p.Ser233Tyr) c.788C>A (p.Ser263Tyr) c.1598C>A (p.Ser533Tyr) c.*568C>A (n.*568C>A) c.1523C>A (p.Ser508Tyr) c.1073C>A (p.Ser358Tyr) n.1239C>A c.*564C>A (n.*564C>A) c.635C>A (p.Ser212Tyr) c.605C>A (p.Ser202Tyr) c.509C>A (p.Ser170Tyr) c.581C>A (p.Ser194Tyr) c.290C>A (p.Ser97Tyr) c.194C>A (p.Ser65Tyr) n.2141C>A n.997C>A c.1271C>A (p.Ser424Tyr) c.1325C>A (p.Ser442Tyr) | dbSNP |
| 5 | g.68295177C= | CA1553406136 | PIK3R1 | c.698C= (p.Ser233=) c.788C= (p.Ser263=) c.1598C= (p.Ser533=) c.*568C= (n.*568C=) c.1523C= (p.Ser508=) c.1073C= (p.Ser358=) n.1239C= c.*564C= (n.*564C=) c.635C= (p.Ser212=) c.605C= (p.Ser202=) c.509C= (p.Ser170=) c.581C= (p.Ser194=) c.290C= (p.Ser97=) c.194C= (p.Ser65=) n.2141C= n.997C= c.1271C= (p.Ser424=) c.1325C= (p.Ser442=) | |
| 5 | g.68295177C>G | CA359882637 | PIK3R1 | c.698C>G (p.Ser233Cys) c.788C>G (p.Ser263Cys) c.1598C>G (p.Ser533Cys) c.*568C>G (n.*568C>G) c.1523C>G (p.Ser508Cys) c.1073C>G (p.Ser358Cys) n.1239C>G c.*564C>G (n.*564C>G) c.635C>G (p.Ser212Cys) c.605C>G (p.Ser202Cys) c.509C>G (p.Ser170Cys) c.581C>G (p.Ser194Cys) c.290C>G (p.Ser97Cys) c.194C>G (p.Ser65Cys) n.2141C>G n.997C>G c.1271C>G (p.Ser424Cys) c.1325C>G (p.Ser442Cys) | ClinVar dbSNP |
| 5 | g.68295177C>T | CA359882639 | PIK3R1 | c.698C>T (p.Ser233Phe) c.788C>T (p.Ser263Phe) c.1598C>T (p.Ser533Phe) c.*568C>T (n.*568C>T) c.1523C>T (p.Ser508Phe) c.1073C>T (p.Ser358Phe) n.1239C>T c.*564C>T (n.*564C>T) c.635C>T (p.Ser212Phe) c.605C>T (p.Ser202Phe) c.509C>T (p.Ser170Phe) c.581C>T (p.Ser194Phe) c.290C>T (p.Ser97Phe) c.194C>T (p.Ser65Phe) n.2141C>T n.997C>T c.1271C>T (p.Ser424Phe) c.1325C>T (p.Ser442Phe) | dbSNP |
| 5 | g.68295178T>A | CA444672538 | PIK3R1 | c.699T>A (p.Ser233=) c.789T>A (p.Ser263=) c.1599T>A (p.Ser533=) c.*569T>A (n.*569T>A) c.1524T>A (p.Ser508=) c.1074T>A (p.Ser358=) n.1240T>A c.*565T>A (n.*565T>A) c.636T>A (p.Ser212=) c.606T>A (p.Ser202=) c.510T>A (p.Ser170=) c.582T>A (p.Ser194=) c.291T>A (p.Ser97=) c.195T>A (p.Ser65=) n.2142T>A n.998T>A c.1272T>A (p.Ser424=) c.1326T>A (p.Ser442=) | |
| 5 | g.68295178T>C | CA444672539 | PIK3R1 | c.699T>C (p.Ser233=) c.789T>C (p.Ser263=) c.1599T>C (p.Ser533=) c.*569T>C (n.*569T>C) c.1524T>C (p.Ser508=) c.1074T>C (p.Ser358=) n.1240T>C c.*565T>C (n.*565T>C) c.636T>C (p.Ser212=) c.606T>C (p.Ser202=) c.510T>C (p.Ser170=) c.582T>C (p.Ser194=) c.291T>C (p.Ser97=) c.195T>C (p.Ser65=) n.2142T>C n.998T>C c.1272T>C (p.Ser424=) c.1326T>C (p.Ser442=) | |
| 5 | g.68295178T>G | CA444672540 | PIK3R1 | c.699T>G (p.Ser233=) c.789T>G (p.Ser263=) c.1599T>G (p.Ser533=) c.*569T>G (n.*569T>G) c.1524T>G (p.Ser508=) c.1074T>G (p.Ser358=) n.1240T>G c.*565T>G (n.*565T>G) c.636T>G (p.Ser212=) c.606T>G (p.Ser202=) c.510T>G (p.Ser170=) c.582T>G (p.Ser194=) c.291T>G (p.Ser97=) c.195T>G (p.Ser65=) n.2142T>G n.998T>G c.1272T>G (p.Ser424=) c.1326T>G (p.Ser442=) | |
| 5 | g.68295179C>A | CA444672541 | PIK3R1 | c.700C>A (p.Arg234=) c.790C>A (p.Arg264=) c.1600C>A (p.Arg534=) c.*570C>A (n.*570C>A) c.1525C>A (p.Arg509=) c.1075C>A (p.Arg359=) n.1241C>A c.*566C>A (n.*566C>A) c.637C>A (p.Arg213=) c.607C>A (p.Arg203=) c.511C>A (p.Arg171=) c.583C>A (p.Arg195=) c.292C>A (p.Arg98=) c.196C>A (p.Arg66=) n.2143C>A n.999C>A c.1273C>A (p.Arg425=) c.1327C>A (p.Arg443=) | dbSNP gnomAD v4 |
| 5 | g.68295179C= | CA1553406137 | PIK3R1 | c.700C= (p.Arg234=) c.790C= (p.Arg264=) c.1600C= (p.Arg534=) c.*570C= (n.*570C=) c.1525C= (p.Arg509=) c.1075C= (p.Arg359=) n.1241C= c.*566C= (n.*566C=) c.637C= (p.Arg213=) c.607C= (p.Arg203=) c.511C= (p.Arg171=) c.583C= (p.Arg195=) c.292C= (p.Arg98=) c.196C= (p.Arg66=) n.2143C= n.999C= c.1273C= (p.Arg425=) c.1327C= (p.Arg443=) | |
| 5 | g.68295179C>G | CA359882642 | PIK3R1 | c.700C>G (p.Arg234Gly) c.790C>G (p.Arg264Gly) c.1600C>G (p.Arg534Gly) c.*570C>G (n.*570C>G) c.1525C>G (p.Arg509Gly) c.1075C>G (p.Arg359Gly) n.1241C>G c.*566C>G (n.*566C>G) c.637C>G (p.Arg213Gly) c.607C>G (p.Arg203Gly) c.511C>G (p.Arg171Gly) c.583C>G (p.Arg195Gly) c.292C>G (p.Arg98Gly) c.196C>G (p.Arg66Gly) n.2143C>G n.999C>G c.1273C>G (p.Arg425Gly) c.1327C>G (p.Arg443Gly) | dbSNP gnomAD v4 |
| 5 | g.68295179C>T | CA359882648 | PIK3R1 | c.700C>T (p.Arg234Ter) c.790C>T (p.Arg264Ter) c.1600C>T (p.Arg534Ter) c.*570C>T (n.*570C>T) c.1525C>T (p.Arg509Ter) c.1075C>T (p.Arg359Ter) n.1241C>T c.*566C>T (n.*566C>T) c.637C>T (p.Arg213Ter) c.607C>T (p.Arg203Ter) c.511C>T (p.Arg171Ter) c.583C>T (p.Arg195Ter) c.292C>T (p.Arg98Ter) c.196C>T (p.Arg66Ter) n.2143C>T n.999C>T c.1273C>T (p.Arg425Ter) c.1327C>T (p.Arg443Ter) | dbSNP COSMIC COSMIC COSMIC |
| 5 | g.68295180G>A | CA359882652 | PIK3R1 | c.701G>A (p.Arg234Gln) c.791G>A (p.Arg264Gln) c.1601G>A (p.Arg534Gln) c.*571G>A (n.*571G>A) c.1526G>A (p.Arg509Gln) c.1076G>A (p.Arg359Gln) n.1242G>A c.*567G>A (n.*567G>A) c.638G>A (p.Arg213Gln) c.608G>A (p.Arg203Gln) c.512G>A (p.Arg171Gln) c.584G>A (p.Arg195Gln) c.293G>A (p.Arg98Gln) c.197G>A (p.Arg66Gln) n.2144G>A n.1000G>A c.1274G>A (p.Arg425Gln) c.1328G>A (p.Arg443Gln) | dbSNP gnomAD v4 |
| 5 | g.68295180G>C | CA359882656 | PIK3R1 | c.701G>C (p.Arg234Pro) c.791G>C (p.Arg264Pro) c.1601G>C (p.Arg534Pro) c.*571G>C (n.*571G>C) c.1526G>C (p.Arg509Pro) c.1076G>C (p.Arg359Pro) n.1242G>C c.*567G>C (n.*567G>C) c.638G>C (p.Arg213Pro) c.608G>C (p.Arg203Pro) c.512G>C (p.Arg171Pro) c.584G>C (p.Arg195Pro) c.293G>C (p.Arg98Pro) c.197G>C (p.Arg66Pro) n.2144G>C n.1000G>C c.1274G>C (p.Arg425Pro) c.1328G>C (p.Arg443Pro) | dbSNP |
| 5 | g.68295180G>T | CA359882654 | PIK3R1 | c.701G>T (p.Arg234Leu) c.791G>T (p.Arg264Leu) c.1601G>T (p.Arg534Leu) c.*571G>T (n.*571G>T) c.1526G>T (p.Arg509Leu) c.1076G>T (p.Arg359Leu) n.1242G>T c.*567G>T (n.*567G>T) c.638G>T (p.Arg213Leu) c.608G>T (p.Arg203Leu) c.512G>T (p.Arg171Leu) c.584G>T (p.Arg195Leu) c.293G>T (p.Arg98Leu) c.197G>T (p.Arg66Leu) n.2144G>T n.1000G>T c.1274G>T (p.Arg425Leu) c.1328G>T (p.Arg443Leu) | dbSNP gnomAD v4 |
| 5 | g.68295181A>C | CA444672546 | PIK3R1 | c.702A>C (p.Arg234=) c.792A>C (p.Arg264=) c.1602A>C (p.Arg534=) c.*572A>C (n.*572A>C) c.1527A>C (p.Arg509=) c.1077A>C (p.Arg359=) n.1243A>C c.*568A>C (n.*568A>C) c.639A>C (p.Arg213=) c.609A>C (p.Arg203=) c.513A>C (p.Arg171=) c.585A>C (p.Arg195=) c.294A>C (p.Arg98=) c.198A>C (p.Arg66=) n.2145A>C n.1001A>C c.1275A>C (p.Arg425=) c.1329A>C (p.Arg443=) | |
| 5 | g.68295181A>G | CA444672548 | PIK3R1 | c.702A>G (p.Arg234=) c.792A>G (p.Arg264=) c.1602A>G (p.Arg534=) c.*572A>G (n.*572A>G) c.1527A>G (p.Arg509=) c.1077A>G (p.Arg359=) n.1243A>G c.*568A>G (n.*568A>G) c.639A>G (p.Arg213=) c.609A>G (p.Arg203=) c.513A>G (p.Arg171=) c.585A>G (p.Arg195=) c.294A>G (p.Arg98=) c.198A>G (p.Arg66=) n.2145A>G n.1001A>G c.1275A>G (p.Arg425=) c.1329A>G (p.Arg443=) | |
| 5 | g.68295181A>T | CA444672549 | PIK3R1 | c.702A>T (p.Arg234=) c.792A>T (p.Arg264=) c.1602A>T (p.Arg534=) c.*572A>T (n.*572A>T) c.1527A>T (p.Arg509=) c.1077A>T (p.Arg359=) n.1243A>T c.*568A>T (n.*568A>T) c.639A>T (p.Arg213=) c.609A>T (p.Arg203=) c.513A>T (p.Arg171=) c.585A>T (p.Arg195=) c.294A>T (p.Arg98=) c.198A>T (p.Arg66=) n.2145A>T n.1001A>T c.1275A>T (p.Arg425=) c.1329A>T (p.Arg443=) | dbSNP |
| 5 | g.68295182A= | CA1553406138 | PIK3R1 | c.703A= (p.Ile235=) c.793A= (p.Ile265=) c.1603A= (p.Ile535=) c.*573A= (n.*573A=) c.1528A= (p.Ile510=) c.1078A= (p.Ile360=) n.1244A= c.*569A= (n.*569A=) c.640A= (p.Ile214=) c.610A= (p.Ile204=) c.514A= (p.Ile172=) c.586A= (p.Ile196=) c.295A= (p.Ile99=) c.199A= (p.Ile67=) n.2146A= n.1002A= c.1276A= (p.Ile426=) c.1330A= (p.Ile444=) | |
| 5 | g.68295182A>C | CA359882659 | PIK3R1 | c.703A>C (p.Ile235Leu) c.793A>C (p.Ile265Leu) c.1603A>C (p.Ile535Leu) c.*573A>C (n.*573A>C) c.1528A>C (p.Ile510Leu) c.1078A>C (p.Ile360Leu) n.1244A>C c.*569A>C (n.*569A>C) c.640A>C (p.Ile214Leu) c.610A>C (p.Ile204Leu) c.514A>C (p.Ile172Leu) c.586A>C (p.Ile196Leu) c.295A>C (p.Ile99Leu) c.199A>C (p.Ile67Leu) n.2146A>C n.1002A>C c.1276A>C (p.Ile426Leu) c.1330A>C (p.Ile444Leu) | |
| 5 | g.68295182A>G | CA3290453 | PIK3R1 | c.703A>G (p.Ile235Val) c.793A>G (p.Ile265Val) c.1603A>G (p.Ile535Val) c.*573A>G (n.*573A>G) c.1528A>G (p.Ile510Val) c.1078A>G (p.Ile360Val) n.1244A>G c.*569A>G (n.*569A>G) c.640A>G (p.Ile214Val) c.610A>G (p.Ile204Val) c.514A>G (p.Ile172Val) c.586A>G (p.Ile196Val) c.295A>G (p.Ile99Val) c.199A>G (p.Ile67Val) n.2146A>G n.1002A>G c.1276A>G (p.Ile426Val) c.1330A>G (p.Ile444Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.68295182A>T | CA359882664 | PIK3R1 | c.703A>T (p.Ile235Phe) c.793A>T (p.Ile265Phe) c.1603A>T (p.Ile535Phe) c.*573A>T (n.*573A>T) c.1528A>T (p.Ile510Phe) c.1078A>T (p.Ile360Phe) n.1244A>T c.*569A>T (n.*569A>T) c.640A>T (p.Ile214Phe) c.610A>T (p.Ile204Phe) c.514A>T (p.Ile172Phe) c.586A>T (p.Ile196Phe) c.295A>T (p.Ile99Phe) c.199A>T (p.Ile67Phe) n.2146A>T n.1002A>T c.1276A>T (p.Ile426Phe) c.1330A>T (p.Ile444Phe) | dbSNP COSMIC COSMIC COSMIC |
| 5 | g.68295183T>A | CA359882667 | PIK3R1 | c.704T>A (p.Ile235Asn) c.794T>A (p.Ile265Asn) c.1604T>A (p.Ile535Asn) c.*574T>A (n.*574T>A) c.1529T>A (p.Ile510Asn) c.1079T>A (p.Ile360Asn) n.1245T>A c.*570T>A (n.*570T>A) c.641T>A (p.Ile214Asn) c.611T>A (p.Ile204Asn) c.515T>A (p.Ile172Asn) c.587T>A (p.Ile196Asn) c.296T>A (p.Ile99Asn) c.200T>A (p.Ile67Asn) n.2147T>A n.1003T>A c.1277T>A (p.Ile426Asn) c.1331T>A (p.Ile444Asn) | dbSNP |
| 5 | g.68295183T>C | CA359882670 | PIK3R1 | c.704T>C (p.Ile235Thr) c.794T>C (p.Ile265Thr) c.1604T>C (p.Ile535Thr) c.*574T>C (n.*574T>C) c.1529T>C (p.Ile510Thr) c.1079T>C (p.Ile360Thr) n.1245T>C c.*570T>C (n.*570T>C) c.641T>C (p.Ile214Thr) c.611T>C (p.Ile204Thr) c.515T>C (p.Ile172Thr) c.587T>C (p.Ile196Thr) c.296T>C (p.Ile99Thr) c.200T>C (p.Ile67Thr) n.2147T>C n.1003T>C c.1277T>C (p.Ile426Thr) c.1331T>C (p.Ile444Thr) | |
| 5 | g.68295183T>G | CA359882673 | PIK3R1 | c.704T>G (p.Ile235Ser) c.794T>G (p.Ile265Ser) c.1604T>G (p.Ile535Ser) c.*574T>G (n.*574T>G) c.1529T>G (p.Ile510Ser) c.1079T>G (p.Ile360Ser) n.1245T>G c.*570T>G (n.*570T>G) c.641T>G (p.Ile214Ser) c.611T>G (p.Ile204Ser) c.515T>G (p.Ile172Ser) c.587T>G (p.Ile196Ser) c.296T>G (p.Ile99Ser) c.200T>G (p.Ile67Ser) n.2147T>G n.1003T>G c.1277T>G (p.Ile426Ser) c.1331T>G (p.Ile444Ser) | dbSNP |
| 5 | g.68295183_68295198delinsTCAGTGAAATTATTGA | CA1553406139 | PIK3R1 | c.704_719delinsTCAGTGAAATTATTGA (p.Ile235=) c.794_809delinsTCAGTGAAATTATTGA (p.Ile265=) c.1604_1619delinsTCAGTGAAATTATTGA (p.Ile535=) c.*574_*589delinsTCAGTGAAATTATTGA (n.*574_*589delinsTCAGTGAAATTATTGA) c.1529_1544delinsTCAGTGAAATTATTGA (p.Ile510=) c.1079_1094delinsTCAGTGAAATTATTGA (p.Ile360=) n.1245_1260delinsTCAGTGAAATTATTGA c.*570_*585delinsTCAGTGAAATTATTGA (n.*570_*585delinsTCAGTGAAATTATTGA) c.641_656delinsTCAGTGAAATTATTGA (p.Ile214=) c.611_626delinsTCAGTGAAATTATTGA (p.Ile204=) c.515_530delinsTCAGTGAAATTATTGA (p.Ile172=) c.587_602delinsTCAGTGAAATTATTGA (p.Ile196=) c.296_311delinsTCAGTGAAATTATTGA (p.Ile99=) c.200_215delinsTCAGTGAAATTATTGA (p.Ile67=) n.2147_2162delinsTCAGTGAAATTATTGA n.1003_1018delinsTCAGTGAAATTATTGA c.1277_1292delinsTCAGTGAAATTATTGA (p.Ile426=) c.1331_1346delinsTCAGTGAAATTATTGA (p.Ile444=) | |
| 5 | g.68295184C>A | CA444672552 | PIK3R1 | c.705C>A (p.Ile235=) c.795C>A (p.Ile265=) c.1605C>A (p.Ile535=) c.*575C>A (n.*575C>A) c.1530C>A (p.Ile510=) c.1080C>A (p.Ile360=) n.1246C>A c.*571C>A (n.*571C>A) c.642C>A (p.Ile214=) c.612C>A (p.Ile204=) c.516C>A (p.Ile172=) c.588C>A (p.Ile196=) c.297C>A (p.Ile99=) c.201C>A (p.Ile67=) n.2148C>A n.1004C>A c.1278C>A (p.Ile426=) c.1332C>A (p.Ile444=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.68295184C= | CA1553406140 | PIK3R1 | c.705C= (p.Ile235=) c.795C= (p.Ile265=) c.1605C= (p.Ile535=) c.*575C= (n.*575C=) c.1530C= (p.Ile510=) c.1080C= (p.Ile360=) n.1246C= c.*571C= (n.*571C=) c.642C= (p.Ile214=) c.612C= (p.Ile204=) c.516C= (p.Ile172=) c.588C= (p.Ile196=) c.297C= (p.Ile99=) c.201C= (p.Ile67=) n.2148C= n.1004C= c.1278C= (p.Ile426=) c.1332C= (p.Ile444=) | |
| 5 | g.68295184C>G | CA359882674 | PIK3R1 | c.705C>G (p.Ile235Met) c.795C>G (p.Ile265Met) c.1605C>G (p.Ile535Met) c.*575C>G (n.*575C>G) c.1530C>G (p.Ile510Met) c.1080C>G (p.Ile360Met) n.1246C>G c.*571C>G (n.*571C>G) c.642C>G (p.Ile214Met) c.612C>G (p.Ile204Met) c.516C>G (p.Ile172Met) c.588C>G (p.Ile196Met) c.297C>G (p.Ile99Met) c.201C>G (p.Ile67Met) n.2148C>G n.1004C>G c.1278C>G (p.Ile426Met) c.1332C>G (p.Ile444Met) | dbSNP |
| 5 | g.68295184C>T | CA444672555 | PIK3R1 | c.705C>T (p.Ile235=) c.795C>T (p.Ile265=) c.1605C>T (p.Ile535=) c.*575C>T (n.*575C>T) c.1530C>T (p.Ile510=) c.1080C>T (p.Ile360=) n.1246C>T c.*571C>T (n.*571C>T) c.642C>T (p.Ile214=) c.612C>T (p.Ile204=) c.516C>T (p.Ile172=) c.588C>T (p.Ile196=) c.297C>T (p.Ile99=) c.201C>T (p.Ile67=) n.2148C>T n.1004C>T c.1278C>T (p.Ile426=) c.1332C>T (p.Ile444=) | dbSNP |
| 5 | g.68295188_68295202del | CA1139658872 | PIK3R1 | c.709_723del (p.Glu237_Ser241del) c.799_813del (p.Glu267_Ser271del) c.1609_1623del (p.Glu537_Ser541del) c.*579_*593del (n.*579_*593del) c.1534_1548del (p.Glu512_Ser516del) c.1084_1098del (p.Glu362_Ser366del) n.1250_1264del c.*575_*589del (n.*575_*589del) c.646_660del (p.Glu216_Ser220del) c.616_630del (p.Glu206_Ser210del) c.520_534del (p.Glu174_Ser178del) c.592_606del (p.Glu198_Ser202del) c.301_315del (p.Glu101_Ser105del) c.205_219del (p.Glu69_Ser73del) n.2152_2166del n.1008_1022del c.1282_1296del (p.Glu428_Ser432del) c.1336_1350del (p.Glu446_Ser450del) | ClinVar dbSNP |
| 5 | g.68295185A>C | CA359882678 | PIK3R1 | c.706A>C (p.Ser236Arg) c.796A>C (p.Ser266Arg) c.1606A>C (p.Ser536Arg) c.*576A>C (n.*576A>C) c.1531A>C (p.Ser511Arg) c.1081A>C (p.Ser361Arg) n.1247A>C c.*572A>C (n.*572A>C) c.643A>C (p.Ser215Arg) c.613A>C (p.Ser205Arg) c.517A>C (p.Ser173Arg) c.589A>C (p.Ser197Arg) c.298A>C (p.Ser100Arg) c.202A>C (p.Ser68Arg) n.2149A>C n.1005A>C c.1279A>C (p.Ser427Arg) c.1333A>C (p.Ser445Arg) | |
| 5 | g.68295185A>G | CA359882680 | PIK3R1 | c.706A>G (p.Ser236Gly) c.796A>G (p.Ser266Gly) c.1606A>G (p.Ser536Gly) c.*576A>G (n.*576A>G) c.1531A>G (p.Ser511Gly) c.1081A>G (p.Ser361Gly) n.1247A>G c.*572A>G (n.*572A>G) c.643A>G (p.Ser215Gly) c.613A>G (p.Ser205Gly) c.517A>G (p.Ser173Gly) c.589A>G (p.Ser197Gly) c.298A>G (p.Ser100Gly) c.202A>G (p.Ser68Gly) n.2149A>G n.1005A>G c.1279A>G (p.Ser427Gly) c.1333A>G (p.Ser445Gly) |