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 |
|---|---|---|---|---|---|
| 15 | g.50997393G>A | CA392419915 | AP4E1 | c.2414G>A (p.Gly805Asp) c.*1538G>A (n.*1538G>A) c.2189G>A (p.Gly730Asp) c.*1458G>A (n.*1458G>A) c.2234G>A (p.Gly745Asp) c.1064G>A (p.Gly355Asp) c.1532G>A (p.Gly511Asp) n.2521G>A n.2397G>A | |
| 15 | g.50997393G>C | CA392419916 | AP4E1 | c.2414G>C (p.Gly805Ala) c.*1538G>C (n.*1538G>C) c.2189G>C (p.Gly730Ala) c.*1458G>C (n.*1458G>C) c.2234G>C (p.Gly745Ala) c.1064G>C (p.Gly355Ala) c.1532G>C (p.Gly511Ala) n.2521G>C n.2397G>C | |
| 15 | g.50997393G>T | CA392419917 | AP4E1 | c.2414G>T (p.Gly805Val) c.*1538G>T (n.*1538G>T) c.2189G>T (p.Gly730Val) c.*1458G>T (n.*1458G>T) c.2234G>T (p.Gly745Val) c.1064G>T (p.Gly355Val) c.1532G>T (p.Gly511Val) n.2521G>T n.2397G>T | |
| 15 | g.50997394C>A | CA490342011 | AP4E1 | c.2415C>A (p.Gly805=) c.*1539C>A (n.*1539C>A) c.2190C>A (p.Gly730=) c.*1459C>A (n.*1459C>A) c.2235C>A (p.Gly745=) c.1065C>A (p.Gly355=) c.1533C>A (p.Gly511=) n.2522C>A n.2398C>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.50997394C= | CA2176672568 | AP4E1 | c.2415C= (p.Gly805=) c.*1539C= (n.*1539C=) c.2190C= (p.Gly730=) c.*1459C= (n.*1459C=) c.2235C= (p.Gly745=) c.1065C= (p.Gly355=) c.1533C= (p.Gly511=) n.2522C= n.2398C= | |
| 15 | g.50997394C>G | CA490342012 | AP4E1 | c.2415C>G (p.Gly805=) c.*1539C>G (n.*1539C>G) c.2190C>G (p.Gly730=) c.*1459C>G (n.*1459C>G) c.2235C>G (p.Gly745=) c.1065C>G (p.Gly355=) c.1533C>G (p.Gly511=) n.2522C>G n.2398C>G | gnomAD v4 |
| 15 | g.50997394C>T | CA7559323 | AP4E1 | c.2415C>T (p.Gly805=) c.*1539C>T (n.*1539C>T) c.2190C>T (p.Gly730=) c.*1459C>T (n.*1459C>T) c.2235C>T (p.Gly745=) c.1065C>T (p.Gly355=) c.1533C>T (p.Gly511=) n.2522C>T n.2398C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50997395G>A | CA7559324 | AP4E1 | c.2416G>A (p.Glu806Lys) c.*1540G>A (n.*1540G>A) c.2191G>A (p.Glu731Lys) c.*1460G>A (n.*1460G>A) c.2236G>A (p.Glu746Lys) c.1066G>A (p.Glu356Lys) c.1534G>A (p.Glu512Lys) n.2523G>A n.2399G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50997395G>C | CA392419919 | AP4E1 | c.2416G>C (p.Glu806Gln) c.*1540G>C (n.*1540G>C) c.2191G>C (p.Glu731Gln) c.*1460G>C (n.*1460G>C) c.2236G>C (p.Glu746Gln) c.1066G>C (p.Glu356Gln) c.1534G>C (p.Glu512Gln) n.2523G>C n.2399G>C | gnomAD v4 |
| 15 | g.50997395G= | CA2176672576 | AP4E1 | c.2416G= (p.Glu806=) c.*1540G= (n.*1540G=) c.2191G= (p.Glu731=) c.*1460G= (n.*1460G=) c.2236G= (p.Glu746=) c.1066G= (p.Glu356=) c.1534G= (p.Glu512=) n.2523G= n.2399G= | |
| 15 | g.50997395G>T | CA392419918 | AP4E1 | c.2416G>T (p.Glu806Ter) c.*1540G>T (n.*1540G>T) c.2191G>T (p.Glu731Ter) c.*1460G>T (n.*1460G>T) c.2236G>T (p.Glu746Ter) c.1066G>T (p.Glu356Ter) c.1534G>T (p.Glu512Ter) n.2523G>T n.2399G>T | |
| 15 | g.50997396A>C | CA392419920 | AP4E1 | c.2417A>C (p.Glu806Ala) c.*1541A>C (n.*1541A>C) c.2192A>C (p.Glu731Ala) c.*1461A>C (n.*1461A>C) c.2237A>C (p.Glu746Ala) c.1067A>C (p.Glu356Ala) c.1535A>C (p.Glu512Ala) n.2524A>C n.2400A>C | |
| 15 | g.50997396A>G | CA392419921 | AP4E1 | c.2417A>G (p.Glu806Gly) c.*1541A>G (n.*1541A>G) c.2192A>G (p.Glu731Gly) c.*1461A>G (n.*1461A>G) c.2237A>G (p.Glu746Gly) c.1067A>G (p.Glu356Gly) c.1535A>G (p.Glu512Gly) n.2524A>G n.2400A>G | |
| 15 | g.50997396A>T | CA392419922 | AP4E1 | c.2417A>T (p.Glu806Val) c.*1541A>T (n.*1541A>T) c.2192A>T (p.Glu731Val) c.*1461A>T (n.*1461A>T) c.2237A>T (p.Glu746Val) c.1067A>T (p.Glu356Val) c.1535A>T (p.Glu512Val) n.2524A>T n.2400A>T | |
| 15 | g.50997397A>C | CA392419923 | AP4E1 | c.2418A>C (p.Glu806Asp) c.*1542A>C (n.*1542A>C) c.2193A>C (p.Glu731Asp) c.*1462A>C (n.*1462A>C) c.2238A>C (p.Glu746Asp) c.1068A>C (p.Glu356Asp) c.1536A>C (p.Glu512Asp) n.2525A>C n.2401A>C | |
| 15 | g.50997397A>G | CA490342013 | AP4E1 | c.2418A>G (p.Glu806=) c.*1542A>G (n.*1542A>G) c.2193A>G (p.Glu731=) c.*1462A>G (n.*1462A>G) c.2238A>G (p.Glu746=) c.1068A>G (p.Glu356=) c.1536A>G (p.Glu512=) n.2525A>G n.2401A>G | gnomAD v4 |
| 15 | g.50997397A>T | CA392419924 | AP4E1 | c.2418A>T (p.Glu806Asp) c.*1542A>T (n.*1542A>T) c.2193A>T (p.Glu731Asp) c.*1462A>T (n.*1462A>T) c.2238A>T (p.Glu746Asp) c.1068A>T (p.Glu356Asp) c.1536A>T (p.Glu512Asp) n.2525A>T n.2401A>T | |
| 15 | g.50997398A>C | CA392419925 | AP4E1 | c.2419A>C (p.Thr807Pro) c.*1543A>C (n.*1543A>C) c.2194A>C (p.Thr732Pro) c.*1463A>C (n.*1463A>C) c.2239A>C (p.Thr747Pro) c.1069A>C (p.Thr357Pro) c.1537A>C (p.Thr513Pro) n.2526A>C n.2402A>C | |
| 15 | g.50997398A>G | CA392419926 | AP4E1 | c.2419A>G (p.Thr807Ala) c.*1543A>G (n.*1543A>G) c.2194A>G (p.Thr732Ala) c.*1463A>G (n.*1463A>G) c.2239A>G (p.Thr747Ala) c.1069A>G (p.Thr357Ala) c.1537A>G (p.Thr513Ala) n.2526A>G n.2402A>G | |
| 15 | g.50997398A>T | CA392419927 | AP4E1 | c.2419A>T (p.Thr807Ser) c.*1543A>T (n.*1543A>T) c.2194A>T (p.Thr732Ser) c.*1463A>T (n.*1463A>T) c.2239A>T (p.Thr747Ser) c.1069A>T (p.Thr357Ser) c.1537A>T (p.Thr513Ser) n.2526A>T n.2402A>T | |
| 15 | g.50997399C>A | CA392419928 | AP4E1 | c.2420C>A (p.Thr807Lys) c.*1544C>A (n.*1544C>A) c.2195C>A (p.Thr732Lys) c.*1464C>A (n.*1464C>A) c.2240C>A (p.Thr747Lys) c.1070C>A (p.Thr357Lys) c.1538C>A (p.Thr513Lys) n.2527C>A n.2403C>A | |
| 15 | g.50997399C>G | CA392419929 | AP4E1 | c.2420C>G (p.Thr807Arg) c.*1544C>G (n.*1544C>G) c.2195C>G (p.Thr732Arg) c.*1464C>G (n.*1464C>G) c.2240C>G (p.Thr747Arg) c.1070C>G (p.Thr357Arg) c.1538C>G (p.Thr513Arg) n.2527C>G n.2403C>G | |
| 15 | g.50997399C>T | CA392419930 | AP4E1 | c.2420C>T (p.Thr807Ile) c.*1544C>T (n.*1544C>T) c.2195C>T (p.Thr732Ile) c.*1464C>T (n.*1464C>T) c.2240C>T (p.Thr747Ile) c.1070C>T (p.Thr357Ile) c.1538C>T (p.Thr513Ile) n.2527C>T n.2403C>T | |
| 15 | g.50997400A= | CA2176672579 | AP4E1 | c.2421A= (p.Thr807=) c.*1545A= (n.*1545A=) c.2196A= (p.Thr732=) c.*1465A= (n.*1465A=) c.2241A= (p.Thr747=) c.1071A= (p.Thr357=) c.1539A= (p.Thr513=) n.2528A= n.2404A= | |
| 15 | g.50997400A>C | CA490342014 | AP4E1 | c.2421A>C (p.Thr807=) c.*1545A>C (n.*1545A>C) c.2196A>C (p.Thr732=) c.*1465A>C (n.*1465A>C) c.2241A>C (p.Thr747=) c.1071A>C (p.Thr357=) c.1539A>C (p.Thr513=) n.2528A>C n.2404A>C | |
| 15 | g.50997400A>G | CA490342015 | AP4E1 | c.2421A>G (p.Thr807=) c.*1545A>G (n.*1545A>G) c.2196A>G (p.Thr732=) c.*1465A>G (n.*1465A>G) c.2241A>G (p.Thr747=) c.1071A>G (p.Thr357=) c.1539A>G (p.Thr513=) n.2528A>G n.2404A>G | |
| 15 | g.50997400A>T | CA7559325 | AP4E1 | c.2421A>T (p.Thr807=) c.*1545A>T (n.*1545A>T) c.2196A>T (p.Thr732=) c.*1465A>T (n.*1465A>T) c.2241A>T (p.Thr747=) c.1071A>T (p.Thr357=) c.1539A>T (p.Thr513=) n.2528A>T n.2404A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50997401A= | CA2176672582 | AP4E1 | c.2422A= (p.Thr808=) c.*1546A= (n.*1546A=) c.2197A= (p.Thr733=) c.*1466A= (n.*1466A=) c.2242A= (p.Thr748=) c.1072A= (p.Thr358=) c.1540A= (p.Thr514=) n.2529A= n.2405A= | |
| 15 | g.50997401A>C | CA392419932 | AP4E1 | c.2422A>C (p.Thr808Pro) c.*1546A>C (n.*1546A>C) c.2197A>C (p.Thr733Pro) c.*1466A>C (n.*1466A>C) c.2242A>C (p.Thr748Pro) c.1072A>C (p.Thr358Pro) c.1540A>C (p.Thr514Pro) n.2529A>C n.2405A>C | |
| 15 | g.50997401A>G | CA7559326 | AP4E1 | c.2422A>G (p.Thr808Ala) c.*1546A>G (n.*1546A>G) c.2197A>G (p.Thr733Ala) c.*1466A>G (n.*1466A>G) c.2242A>G (p.Thr748Ala) c.1072A>G (p.Thr358Ala) c.1540A>G (p.Thr514Ala) n.2529A>G n.2405A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50997401A>T | CA392419931 | AP4E1 | c.2422A>T (p.Thr808Ser) c.*1546A>T (n.*1546A>T) c.2197A>T (p.Thr733Ser) c.*1466A>T (n.*1466A>T) c.2242A>T (p.Thr748Ser) c.1072A>T (p.Thr358Ser) c.1540A>T (p.Thr514Ser) n.2529A>T n.2405A>T | |
| 15 | g.50997402C>A | CA392419933 | AP4E1 | c.2423C>A (p.Thr808Asn) c.*1547C>A (n.*1547C>A) c.2198C>A (p.Thr733Asn) c.*1467C>A (n.*1467C>A) c.2243C>A (p.Thr748Asn) c.1073C>A (p.Thr358Asn) c.1541C>A (p.Thr514Asn) n.2530C>A n.2406C>A | |
| 15 | g.50997402C>G | CA392419935 | AP4E1 | c.2423C>G (p.Thr808Ser) c.*1547C>G (n.*1547C>G) c.2198C>G (p.Thr733Ser) c.*1467C>G (n.*1467C>G) c.2243C>G (p.Thr748Ser) c.1073C>G (p.Thr358Ser) c.1541C>G (p.Thr514Ser) n.2530C>G n.2406C>G | |
| 15 | g.50997402C>T | CA392419934 | AP4E1 | c.2423C>T (p.Thr808Ile) c.*1547C>T (n.*1547C>T) c.2198C>T (p.Thr733Ile) c.*1467C>T (n.*1467C>T) c.2243C>T (p.Thr748Ile) c.1073C>T (p.Thr358Ile) c.1541C>T (p.Thr514Ile) n.2530C>T n.2406C>T | |
| 15 | g.50997403C>A | CA490342016 | AP4E1 | c.2424C>A (p.Thr808=) c.*1548C>A (n.*1548C>A) c.2199C>A (p.Thr733=) c.*1468C>A (n.*1468C>A) c.2244C>A (p.Thr748=) c.1074C>A (p.Thr358=) c.1542C>A (p.Thr514=) n.2531C>A n.2407C>A | |
| 15 | g.50997403C= | CA2176672585 | AP4E1 | c.2424C= (p.Thr808=) c.*1548C= (n.*1548C=) c.2199C= (p.Thr733=) c.*1468C= (n.*1468C=) c.2244C= (p.Thr748=) c.1074C= (p.Thr358=) c.1542C= (p.Thr514=) n.2531C= n.2407C= | |
| 15 | g.50997403C>G | CA490342018 | AP4E1 | c.2424C>G (p.Thr808=) c.*1548C>G (n.*1548C>G) c.2199C>G (p.Thr733=) c.*1468C>G (n.*1468C>G) c.2244C>G (p.Thr748=) c.1074C>G (p.Thr358=) c.1542C>G (p.Thr514=) n.2531C>G n.2407C>G | dbSNP |
| 15 | g.50997403C>T | CA490342017 | AP4E1 | c.2424C>T (p.Thr808=) c.*1548C>T (n.*1548C>T) c.2199C>T (p.Thr733=) c.*1468C>T (n.*1468C>T) c.2244C>T (p.Thr748=) c.1074C>T (p.Thr358=) c.1542C>T (p.Thr514=) n.2531C>T n.2407C>T | gnomAD v4 |
| 15 | g.50997404A= | CA2176672588 | AP4E1 | c.2425A= (p.Ser809=) c.*1549A= (n.*1549A=) c.2200A= (p.Ser734=) c.*1469A= (n.*1469A=) c.2245A= (p.Ser749=) c.1075A= (p.Ser359=) c.1543A= (p.Ser515=) n.2532A= n.2408A= | |
| 15 | g.50997404A>C | CA392419936 | AP4E1 | c.2425A>C (p.Ser809Arg) c.*1549A>C (n.*1549A>C) c.2200A>C (p.Ser734Arg) c.*1469A>C (n.*1469A>C) c.2245A>C (p.Ser749Arg) c.1075A>C (p.Ser359Arg) c.1543A>C (p.Ser515Arg) n.2532A>C n.2408A>C | |
| 15 | g.50997404A>G | CA270525789 | AP4E1 | c.2425A>G (p.Ser809Gly) c.*1549A>G (n.*1549A>G) c.2200A>G (p.Ser734Gly) c.*1469A>G (n.*1469A>G) c.2245A>G (p.Ser749Gly) c.1075A>G (p.Ser359Gly) c.1543A>G (p.Ser515Gly) n.2532A>G n.2408A>G | dbSNP |
| 15 | g.50997404A>T | CA392419937 | AP4E1 | c.2425A>T (p.Ser809Cys) c.*1549A>T (n.*1549A>T) c.2200A>T (p.Ser734Cys) c.*1469A>T (n.*1469A>T) c.2245A>T (p.Ser749Cys) c.1075A>T (p.Ser359Cys) c.1543A>T (p.Ser515Cys) n.2532A>T n.2408A>T | |
| 15 | g.50997405G>A | CA392419938 | AP4E1 | c.2426G>A (p.Ser809Asn) c.*1550G>A (n.*1550G>A) c.2201G>A (p.Ser734Asn) c.*1470G>A (n.*1470G>A) c.2246G>A (p.Ser749Asn) c.1076G>A (p.Ser359Asn) c.1544G>A (p.Ser515Asn) n.2533G>A n.2409G>A | |
| 15 | g.50997405G>C | CA392419939 | AP4E1 | c.2426G>C (p.Ser809Thr) c.*1550G>C (n.*1550G>C) c.2201G>C (p.Ser734Thr) c.*1470G>C (n.*1470G>C) c.2246G>C (p.Ser749Thr) c.1076G>C (p.Ser359Thr) c.1544G>C (p.Ser515Thr) n.2533G>C n.2409G>C | |
| 15 | g.50997405G>T | CA392419940 | AP4E1 | c.2426G>T (p.Ser809Ile) c.*1550G>T (n.*1550G>T) c.2201G>T (p.Ser734Ile) c.*1470G>T (n.*1470G>T) c.2246G>T (p.Ser749Ile) c.1076G>T (p.Ser359Ile) c.1544G>T (p.Ser515Ile) n.2533G>T n.2409G>T | |
| 15 | g.50997406T>A | CA392419941 | AP4E1 | c.2427T>A (p.Ser809Arg) c.*1551T>A (n.*1551T>A) c.2202T>A (p.Ser734Arg) c.*1471T>A (n.*1471T>A) c.2247T>A (p.Ser749Arg) c.1077T>A (p.Ser359Arg) c.1545T>A (p.Ser515Arg) n.2534T>A n.2410T>A | |
| 15 | g.50997406T>C | CA490342019 | AP4E1 | c.2427T>C (p.Ser809=) c.*1551T>C (n.*1551T>C) c.2202T>C (p.Ser734=) c.*1471T>C (n.*1471T>C) c.2247T>C (p.Ser749=) c.1077T>C (p.Ser359=) c.1545T>C (p.Ser515=) n.2534T>C n.2410T>C | |
| 15 | g.50997406T>G | CA392419942 | AP4E1 | c.2427T>G (p.Ser809Arg) c.*1551T>G (n.*1551T>G) c.2202T>G (p.Ser734Arg) c.*1471T>G (n.*1471T>G) c.2247T>G (p.Ser749Arg) c.1077T>G (p.Ser359Arg) c.1545T>G (p.Ser515Arg) n.2534T>G n.2410T>G | |
| 15 | g.50997407A>C | CA392419943 | AP4E1 | c.2428A>C (p.Thr810Pro) c.*1552A>C (n.*1552A>C) c.2203A>C (p.Thr735Pro) c.*1472A>C (n.*1472A>C) c.2248A>C (p.Thr750Pro) c.1078A>C (p.Thr360Pro) c.1546A>C (p.Thr516Pro) n.2535A>C n.2411A>C | |
| 15 | g.50997407A>G | CA392419944 | AP4E1 | c.2428A>G (p.Thr810Ala) c.*1552A>G (n.*1552A>G) c.2203A>G (p.Thr735Ala) c.*1472A>G (n.*1472A>G) c.2248A>G (p.Thr750Ala) c.1078A>G (p.Thr360Ala) c.1546A>G (p.Thr516Ala) n.2535A>G n.2411A>G |