WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.53985139_53985150del | CA2693828192 | PHF8 | c.1908_1919del (p.Pro637_Ser640del) c.2211_2222del (p.Pro738_Ser741del) c.*666_*677del (n.*666_*677del) c.*1653_*1664del (n.*1653_*1664del) n.1575_1586del c.2160_2171del (p.Pro721_Ser724del) c.2319_2330del (p.Pro774_Ser777del) c.1922_1933del c.1501_1512del c.638_649del (p.His213_Pro216del) c.2016_2027del (p.Pro673_Ser676del) | gnomAD v4 |
| X | g.53985147G>A | CA413252974 | PHF8 | c.1907C>T (p.Ser636Leu) c.2210C>T (p.Ser737Leu) c.*665C>T (n.*665C>T) c.*1652C>T (n.*1652C>T) n.1574C>T c.2159C>T (p.Ser720Leu) c.2318C>T (p.Ser773Leu) c.1921C>T c.1500C>T c.637C>T (p.His213Tyr) c.2015C>T (p.Ser672Leu) | |
| X | g.53985147G>C | CA201396 | PHF8 | c.1907C>G (p.Ser636Ter) c.2210C>G (p.Ser737Ter) c.*665C>G (n.*665C>G) c.*1652C>G (n.*1652C>G) n.1574C>G c.2159C>G (p.Ser720Ter) c.2318C>G (p.Ser773Ter) c.1921C>G c.1500C>G c.637C>G (p.His213Asp) c.2015C>G (p.Ser672Ter) | ClinVar dbSNP |
| X | g.53985147G= | CA2430030707 | PHF8 | c.1907C= (p.Ser636=) c.2210C= (p.Ser737=) c.*665C= (n.*665C=) c.*1652C= (n.*1652C=) n.1574C= c.2159C= (p.Ser720=) c.2318C= (p.Ser773=) c.1921C= c.1500C= c.637C= (p.His213=) c.2015C= (p.Ser672=) | |
| X | g.53985147G>T | CA413252979 | PHF8 | c.1907C>A (p.Ser636Ter) c.2210C>A (p.Ser737Ter) c.*665C>A (n.*665C>A) c.*1652C>A (n.*1652C>A) n.1574C>A c.2159C>A (p.Ser720Ter) c.2318C>A (p.Ser773Ter) c.1921C>A c.1500C>A c.637C>A (p.His213Asn) c.2015C>A (p.Ser672Ter) | |
| X | g.53985148A>C | CA413252982 | PHF8 | c.1906T>G (p.Ser636Ala) c.2209T>G (p.Ser737Ala) c.*664T>G (n.*664T>G) c.*1651T>G (n.*1651T>G) n.1573T>G c.2158T>G (p.Ser720Ala) c.2317T>G (p.Ser773Ala) c.1920T>G c.1499T>G c.636T>G (p.Pro212=) c.2014T>G (p.Ser672Ala) | |
| X | g.53985148A>G | CA413252984 | PHF8 | c.1906T>C (p.Ser636Pro) c.2209T>C (p.Ser737Pro) c.*664T>C (n.*664T>C) c.*1651T>C (n.*1651T>C) n.1573T>C c.2158T>C (p.Ser720Pro) c.2317T>C (p.Ser773Pro) c.1920T>C c.1499T>C c.636T>C (p.Pro212=) c.2014T>C (p.Ser672Pro) | |
| X | g.53985148A>T | CA413252986 | PHF8 | c.1906T>A (p.Ser636Thr) c.2209T>A (p.Ser737Thr) c.*664T>A (n.*664T>A) c.*1651T>A (n.*1651T>A) n.1573T>A c.2158T>A (p.Ser720Thr) c.2317T>A (p.Ser773Thr) c.1920T>A c.1499T>A c.636T>A (p.Pro212=) c.2014T>A (p.Ser672Thr) | |
| X | g.53985149G>A | CA413252989 | PHF8 | c.1905C>T (p.Ser635=) c.2208C>T (p.Ser736=) c.*663C>T (n.*663C>T) c.*1650C>T (n.*1650C>T) n.1572C>T c.2157C>T (p.Ser719=) c.2316C>T (p.Ser772=) c.1919C>T c.1498C>T c.635C>T (p.Pro212Leu) c.2013C>T (p.Ser671=) | |
| X | g.53985149G>C | CA413252990 | PHF8 | c.1905C>G (p.Ser635=) c.2208C>G (p.Ser736=) c.*663C>G (n.*663C>G) c.*1650C>G (n.*1650C>G) n.1572C>G c.2157C>G (p.Ser719=) c.2316C>G (p.Ser772=) c.1919C>G c.1498C>G c.635C>G (p.Pro212Arg) c.2013C>G (p.Ser671=) | |
| X | g.53985149G>T | CA413252993 | PHF8 | c.1905C>A (p.Ser635=) c.2208C>A (p.Ser736=) c.*663C>A (n.*663C>A) c.*1650C>A (n.*1650C>A) n.1572C>A c.2157C>A (p.Ser719=) c.2316C>A (p.Ser772=) c.1919C>A c.1498C>A c.635C>A (p.Pro212His) c.2013C>A (p.Ser671=) | |
| X | g.53985150G>A | CA413252996 | PHF8 | c.1904C>T (p.Ser635Phe) c.2207C>T (p.Ser736Phe) c.*662C>T (n.*662C>T) c.*1649C>T (n.*1649C>T) n.1571C>T c.2156C>T (p.Ser719Phe) c.2315C>T (p.Ser772Phe) c.1918C>T c.1497C>T c.634C>T (p.Pro212Ser) c.2012C>T (p.Ser671Phe) | |
| X | g.53985150G>C | CA413252998 | PHF8 | c.1904C>G (p.Ser635Cys) c.2207C>G (p.Ser736Cys) c.*662C>G (n.*662C>G) c.*1649C>G (n.*1649C>G) n.1571C>G c.2156C>G (p.Ser719Cys) c.2315C>G (p.Ser772Cys) c.1918C>G c.1497C>G c.634C>G (p.Pro212Ala) c.2012C>G (p.Ser671Cys) | |
| X | g.53985150G>T | CA413253000 | PHF8 | c.1904C>A (p.Ser635Tyr) c.2207C>A (p.Ser736Tyr) c.*662C>A (n.*662C>A) c.*1649C>A (n.*1649C>A) n.1571C>A c.2156C>A (p.Ser719Tyr) c.2315C>A (p.Ser772Tyr) c.1918C>A c.1497C>A c.634C>A (p.Pro212Thr) c.2012C>A (p.Ser671Tyr) | |
| X | g.53985151A>C | CA413253003 | PHF8 | c.1903T>G (p.Ser635Ala) c.2206T>G (p.Ser736Ala) c.*661T>G (n.*661T>G) c.*1648T>G (n.*1648T>G) n.1570T>G c.2155T>G (p.Ser719Ala) c.2314T>G (p.Ser772Ala) c.1917T>G c.1496T>G c.633T>G (p.Arg211=) c.2011T>G (p.Ser671Ala) | |
| X | g.53985151A>G | CA413253010 | PHF8 | c.1903T>C (p.Ser635Pro) c.2206T>C (p.Ser736Pro) c.*661T>C (n.*661T>C) c.*1648T>C (n.*1648T>C) n.1570T>C c.2155T>C (p.Ser719Pro) c.2314T>C (p.Ser772Pro) c.1917T>C c.1496T>C c.633T>C (p.Arg211=) c.2011T>C (p.Ser671Pro) | |
| X | g.53985151A>T | CA413253007 | PHF8 | c.1903T>A (p.Ser635Thr) c.2206T>A (p.Ser736Thr) c.*661T>A (n.*661T>A) c.*1648T>A (n.*1648T>A) n.1570T>A c.2155T>A (p.Ser719Thr) c.2314T>A (p.Ser772Thr) c.1917T>A c.1496T>A c.633T>A (p.Arg211=) c.2011T>A (p.Ser671Thr) | |
| X | g.53985152C>A | CA413253013 | PHF8 | c.1902G>T (p.Ser634=) c.2205G>T (p.Ser735=) c.*660G>T (n.*660G>T) c.*1647G>T (n.*1647G>T) n.1569G>T c.2154G>T (p.Ser718=) c.2313G>T (p.Ser771=) c.1916G>T c.1495G>T c.632G>T (p.Arg211Leu) c.2010G>T (p.Ser670=) | |
| X | g.53985152C= | CA2430030708 | PHF8 | c.1902G= (p.Ser634=) c.2205G= (p.Ser735=) c.*660G= (n.*660G=) c.*1647G= (n.*1647G=) n.1569G= c.2154G= (p.Ser718=) c.2313G= (p.Ser771=) c.1916G= c.1495G= c.632G= (p.Arg211=) c.2010G= (p.Ser670=) | |
| X | g.53985152C>G | CA413253018 | PHF8 | c.1902G>C (p.Ser634=) c.2205G>C (p.Ser735=) c.*660G>C (n.*660G>C) c.*1647G>C (n.*1647G>C) n.1569G>C c.2154G>C (p.Ser718=) c.2313G>C (p.Ser771=) c.1916G>C c.1495G>C c.632G>C (p.Arg211Pro) c.2010G>C (p.Ser670=) | |
| X | g.53985152C>T | CA10423324 | PHF8 | c.1902G>A (p.Ser634=) c.2205G>A (p.Ser735=) c.*660G>A (n.*660G>A) c.*1647G>A (n.*1647G>A) n.1569G>A c.2154G>A (p.Ser718=) c.2313G>A (p.Ser771=) c.1916G>A c.1495G>A c.632G>A (p.Arg211His) c.2010G>A (p.Ser670=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.53985153G>A | CA329924353 | PHF8 | c.1901C>T (p.Ser634Leu) c.2204C>T (p.Ser735Leu) c.*659C>T (n.*659C>T) c.*1646C>T (n.*1646C>T) n.1568C>T c.2153C>T (p.Ser718Leu) c.2312C>T (p.Ser771Leu) c.1915C>T c.1494C>T c.631C>T (p.Arg211Cys) c.2009C>T (p.Ser670Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| X | g.53985153G>C | CA413253024 | PHF8 | c.1901C>G (p.Ser634Trp) c.2204C>G (p.Ser735Trp) c.*659C>G (n.*659C>G) c.*1646C>G (n.*1646C>G) n.1568C>G c.2153C>G (p.Ser718Trp) c.2312C>G (p.Ser771Trp) c.1915C>G c.1494C>G c.631C>G (p.Arg211Gly) c.2009C>G (p.Ser670Trp) | |
| X | g.53985153G= | CA2430030709 | PHF8 | c.1901C= (p.Ser634=) c.2204C= (p.Ser735=) c.*659C= (n.*659C=) c.*1646C= (n.*1646C=) n.1568C= c.2153C= (p.Ser718=) c.2312C= (p.Ser771=) c.1915C= c.1494C= c.631C= (p.Arg211=) c.2009C= (p.Ser670=) | |
| X | g.53985153G>T | CA413253022 | PHF8 | c.1901C>A (p.Ser634Ter) c.2204C>A (p.Ser735Ter) c.*659C>A (n.*659C>A) c.*1646C>A (n.*1646C>A) n.1568C>A c.2153C>A (p.Ser718Ter) c.2312C>A (p.Ser771Ter) c.1915C>A c.1494C>A c.631C>A (p.Arg211Ser) c.2009C>A (p.Ser670Ter) | |
| X | g.53985154A>C | CA413253028 | PHF8 | c.1900T>G (p.Ser634Ala) c.2203T>G (p.Ser735Ala) c.*658T>G (n.*658T>G) c.*1645T>G (n.*1645T>G) n.1567T>G c.2152T>G (p.Ser718Ala) c.2311T>G (p.Ser771Ala) c.1914T>G c.1493T>G c.630T>G (p.His210Gln) c.2008T>G (p.Ser670Ala) | |
| X | g.53985154A>G | CA413253030 | PHF8 | c.1900T>C (p.Ser634Pro) c.2203T>C (p.Ser735Pro) c.*658T>C (n.*658T>C) c.*1645T>C (n.*1645T>C) n.1567T>C c.2152T>C (p.Ser718Pro) c.2311T>C (p.Ser771Pro) c.1914T>C c.1493T>C c.630T>C (p.His210=) c.2008T>C (p.Ser670Pro) | |
| X | g.53985154A>T | CA413253032 | PHF8 | c.1900T>A (p.Ser634Thr) c.2203T>A (p.Ser735Thr) c.*658T>A (n.*658T>A) c.*1645T>A (n.*1645T>A) n.1567T>A c.2152T>A (p.Ser718Thr) c.2311T>A (p.Ser771Thr) c.1914T>A c.1493T>A c.630T>A (p.His210Gln) c.2008T>A (p.Ser670Thr) | |
| X | g.53985155T>A | CA413253035 | PHF8 | c.1899A>T (p.Ser633=) c.2202A>T (p.Ser734=) c.*657A>T (n.*657A>T) c.*1644A>T (n.*1644A>T) n.1566A>T c.2151A>T (p.Ser717=) c.2310A>T (p.Ser770=) c.1913A>T c.1492A>T c.629A>T (p.His210Leu) c.2007A>T (p.Ser669=) | |
| X | g.53985155T>C | CA413253037 | PHF8 | c.1899A>G (p.Ser633=) c.2202A>G (p.Ser734=) c.*657A>G (n.*657A>G) c.*1644A>G (n.*1644A>G) n.1566A>G c.2151A>G (p.Ser717=) c.2310A>G (p.Ser770=) c.1913A>G c.1492A>G c.629A>G (p.His210Arg) c.2007A>G (p.Ser669=) | gnomAD v4 |
| X | g.53985155T>G | CA413253039 | PHF8 | c.1899A>C (p.Ser633=) c.2202A>C (p.Ser734=) c.*657A>C (n.*657A>C) c.*1644A>C (n.*1644A>C) n.1566A>C c.2151A>C (p.Ser717=) c.2310A>C (p.Ser770=) c.1913A>C c.1492A>C c.629A>C (p.His210Pro) c.2007A>C (p.Ser669=) | |
| X | g.53985156G>A | CA413253044 | PHF8 | c.1898C>T (p.Ser633Leu) c.2201C>T (p.Ser734Leu) c.*656C>T (n.*656C>T) c.*1643C>T (n.*1643C>T) n.1565C>T c.2150C>T (p.Ser717Leu) c.2309C>T (p.Ser770Leu) c.1912C>T c.1491C>T c.628C>T (p.His210Tyr) c.2006C>T (p.Ser669Leu) | gnomAD v4 |
| X | g.53985156G>C | CA413253046 | PHF8 | c.1898C>G (p.Ser633Ter) c.2201C>G (p.Ser734Ter) c.*656C>G (n.*656C>G) c.*1643C>G (n.*1643C>G) n.1565C>G c.2150C>G (p.Ser717Ter) c.2309C>G (p.Ser770Ter) c.1912C>G c.1491C>G c.628C>G (p.His210Asp) c.2006C>G (p.Ser669Ter) | |
| X | g.53985156G>T | CA413253048 | PHF8 | c.1898C>A (p.Ser633Ter) c.2201C>A (p.Ser734Ter) c.*656C>A (n.*656C>A) c.*1643C>A (n.*1643C>A) n.1565C>A c.2150C>A (p.Ser717Ter) c.2309C>A (p.Ser770Ter) c.1912C>A c.1491C>A c.628C>A (p.His210Asn) c.2006C>A (p.Ser669Ter) | |
| X | g.53985157A>C | CA413253050 | PHF8 | c.1897T>G (p.Ser633Ala) c.2200T>G (p.Ser734Ala) c.*655T>G (n.*655T>G) c.*1642T>G (n.*1642T>G) n.1564T>G c.2149T>G (p.Ser717Ala) c.2308T>G (p.Ser770Ala) c.1911T>G c.1490T>G c.627T>G (p.Pro209=) c.2005T>G (p.Ser669Ala) | |
| X | g.53985157A>G | CA413253052 | PHF8 | c.1897T>C (p.Ser633Pro) c.2200T>C (p.Ser734Pro) c.*655T>C (n.*655T>C) c.*1642T>C (n.*1642T>C) n.1564T>C c.2149T>C (p.Ser717Pro) c.2308T>C (p.Ser770Pro) c.1911T>C c.1490T>C c.627T>C (p.Pro209=) c.2005T>C (p.Ser669Pro) | gnomAD v4 |
| X | g.53985157A>T | CA413253054 | PHF8 | c.1897T>A (p.Ser633Thr) c.2200T>A (p.Ser734Thr) c.*655T>A (n.*655T>A) c.*1642T>A (n.*1642T>A) n.1564T>A c.2149T>A (p.Ser717Thr) c.2308T>A (p.Ser770Thr) c.1911T>A c.1490T>A c.627T>A (p.Pro209=) c.2005T>A (p.Ser669Thr) | |
| X | g.53985158G>A | CA10423325 | PHF8 | c.1896C>T (p.Ser632=) c.2199C>T (p.Ser733=) c.*654C>T (n.*654C>T) c.*1641C>T (n.*1641C>T) n.1563C>T c.2148C>T (p.Ser716=) c.2307C>T (p.Ser769=) c.1910C>T c.1489C>T c.626C>T (p.Pro209Leu) c.2004C>T (p.Ser668=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.53985158G>C | CA413253060 | PHF8 | c.1896C>G (p.Ser632=) c.2199C>G (p.Ser733=) c.*654C>G (n.*654C>G) c.*1641C>G (n.*1641C>G) n.1563C>G c.2148C>G (p.Ser716=) c.2307C>G (p.Ser769=) c.1910C>G c.1489C>G c.626C>G (p.Pro209Arg) c.2004C>G (p.Ser668=) | gnomAD v4 |
| X | g.53985158G= | CA2430030710 | PHF8 | c.1896C= (p.Ser632=) c.2199C= (p.Ser733=) c.*654C= (n.*654C=) c.*1641C= (n.*1641C=) n.1563C= c.2148C= (p.Ser716=) c.2307C= (p.Ser769=) c.1910C= c.1489C= c.626C= (p.Pro209=) c.2004C= (p.Ser668=) | |
| X | g.53985158G>T | CA413253057 | PHF8 | c.1896C>A (p.Ser632=) c.2199C>A (p.Ser733=) c.*654C>A (n.*654C>A) c.*1641C>A (n.*1641C>A) n.1563C>A c.2148C>A (p.Ser716=) c.2307C>A (p.Ser769=) c.1910C>A c.1489C>A c.626C>A (p.Pro209His) c.2004C>A (p.Ser668=) | |
| X | g.53985159G>A | CA413253063 | PHF8 | c.1895C>T (p.Ser632Phe) c.2198C>T (p.Ser733Phe) c.*653C>T (n.*653C>T) c.*1640C>T (n.*1640C>T) n.1562C>T c.2147C>T (p.Ser716Phe) c.2306C>T (p.Ser769Phe) c.1909C>T c.1488C>T c.625C>T (p.Pro209Ser) c.2003C>T (p.Ser668Phe) | |
| X | g.53985159G>C | CA413253066 | PHF8 | c.1895C>G (p.Ser632Cys) c.2198C>G (p.Ser733Cys) c.*653C>G (n.*653C>G) c.*1640C>G (n.*1640C>G) n.1562C>G c.2147C>G (p.Ser716Cys) c.2306C>G (p.Ser769Cys) c.1909C>G c.1488C>G c.625C>G (p.Pro209Ala) c.2003C>G (p.Ser668Cys) | |
| X | g.53985159G>T | CA413253068 | PHF8 | c.1895C>A (p.Ser632Tyr) c.2198C>A (p.Ser733Tyr) c.*653C>A (n.*653C>A) c.*1640C>A (n.*1640C>A) n.1562C>A c.2147C>A (p.Ser716Tyr) c.2306C>A (p.Ser769Tyr) c.1909C>A c.1488C>A c.625C>A (p.Pro209Thr) c.2003C>A (p.Ser668Tyr) | |
| X | g.53985160A= | CA2430030711 | PHF8 | c.1894T= (p.Ser632=) c.2197T= (p.Ser733=) c.*652T= (n.*652T=) c.*1639T= (n.*1639T=) n.1561T= c.2146T= (p.Ser716=) c.2305T= (p.Ser769=) c.1908T= c.1487T= c.624T= (p.Ser208=) c.2002T= (p.Ser668=) | |
| X | g.53985160A>C | CA413253073 | PHF8 | c.1894T>G (p.Ser632Ala) c.2197T>G (p.Ser733Ala) c.*652T>G (n.*652T>G) c.*1639T>G (n.*1639T>G) n.1561T>G c.2146T>G (p.Ser716Ala) c.2305T>G (p.Ser769Ala) c.1908T>G c.1487T>G c.624T>G (p.Ser208Arg) c.2002T>G (p.Ser668Ala) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.53985160A>G | CA413253075 | PHF8 | c.1894T>C (p.Ser632Pro) c.2197T>C (p.Ser733Pro) c.*652T>C (n.*652T>C) c.*1639T>C (n.*1639T>C) n.1561T>C c.2146T>C (p.Ser716Pro) c.2305T>C (p.Ser769Pro) c.1908T>C c.1487T>C c.624T>C (p.Ser208=) c.2002T>C (p.Ser668Pro) | |
| X | g.53985160A>T | CA413253077 | PHF8 | c.1894T>A (p.Ser632Thr) c.2197T>A (p.Ser733Thr) c.*652T>A (n.*652T>A) c.*1639T>A (n.*1639T>A) n.1561T>A c.2146T>A (p.Ser716Thr) c.2305T>A (p.Ser769Thr) c.1908T>A c.1487T>A c.624T>A (p.Ser208Arg) c.2002T>A (p.Ser668Thr) | |
| X | g.53985161C>A | CA413253079 | PHF8 | c.1893G>T (p.Gln631His) c.2196G>T (p.Gln732His) c.*651G>T (n.*651G>T) c.*1638G>T (n.*1638G>T) n.1560G>T c.2145G>T (p.Gln715His) c.2304G>T (p.Gln768His) c.1907G>T c.1486G>T c.623G>T (p.Ser208Ile) c.2001G>T (p.Gln667His) | |
| X | g.53985161C>G | CA413253081 | PHF8 | c.1893G>C (p.Gln631His) c.2196G>C (p.Gln732His) c.*651G>C (n.*651G>C) c.*1638G>C (n.*1638G>C) n.1560G>C c.2145G>C (p.Gln715His) c.2304G>C (p.Gln768His) c.1907G>C c.1486G>C c.623G>C (p.Ser208Thr) c.2001G>C (p.Gln667His) |