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.50997388A>C | CA392419902 | AP4E1 | c.2409A>C (p.Lys803Asn) c.*1533A>C (n.*1533A>C) c.2184A>C (p.Lys728Asn) c.*1453A>C (n.*1453A>C) c.2229A>C (p.Lys743Asn) c.1059A>C (p.Lys353Asn) c.1527A>C (p.Lys509Asn) n.2516A>C n.2392A>C | |
| 15 | g.50997388A>G | CA490342008 | AP4E1 | c.2409A>G (p.Lys803=) c.*1533A>G (n.*1533A>G) c.2184A>G (p.Lys728=) c.*1453A>G (n.*1453A>G) c.2229A>G (p.Lys743=) c.1059A>G (p.Lys353=) c.1527A>G (p.Lys509=) n.2516A>G n.2392A>G | |
| 15 | g.50997388A>T | CA392419903 | AP4E1 | c.2409A>T (p.Lys803Asn) c.*1533A>T (n.*1533A>T) c.2184A>T (p.Lys728Asn) c.*1453A>T (n.*1453A>T) c.2229A>T (p.Lys743Asn) c.1059A>T (p.Lys353Asn) c.1527A>T (p.Lys509Asn) n.2516A>T n.2392A>T | |
| 15 | g.50997389A>C | CA392419906 | AP4E1 | c.2410A>C (p.Ser804Arg) c.*1534A>C (n.*1534A>C) c.2185A>C (p.Ser729Arg) c.*1454A>C (n.*1454A>C) c.2230A>C (p.Ser744Arg) c.1060A>C (p.Ser354Arg) c.1528A>C (p.Ser510Arg) n.2517A>C n.2393A>C | |
| 15 | g.50997389A>G | CA392419905 | AP4E1 | c.2410A>G (p.Ser804Gly) c.*1534A>G (n.*1534A>G) c.2185A>G (p.Ser729Gly) c.*1454A>G (n.*1454A>G) c.2230A>G (p.Ser744Gly) c.1060A>G (p.Ser354Gly) c.1528A>G (p.Ser510Gly) n.2517A>G n.2393A>G | |
| 15 | g.50997389A>T | CA392419904 | AP4E1 | c.2410A>T (p.Ser804Cys) c.*1534A>T (n.*1534A>T) c.2185A>T (p.Ser729Cys) c.*1454A>T (n.*1454A>T) c.2230A>T (p.Ser744Cys) c.1060A>T (p.Ser354Cys) c.1528A>T (p.Ser510Cys) n.2517A>T n.2393A>T | |
| 15 | g.50997390G>A | CA392419907 | AP4E1 | c.2411G>A (p.Ser804Asn) c.*1535G>A (n.*1535G>A) c.2186G>A (p.Ser729Asn) c.*1455G>A (n.*1455G>A) c.2231G>A (p.Ser744Asn) c.1061G>A (p.Ser354Asn) c.1529G>A (p.Ser510Asn) n.2518G>A n.2394G>A | |
| 15 | g.50997390G>C | CA392419908 | AP4E1 | c.2411G>C (p.Ser804Thr) c.*1535G>C (n.*1535G>C) c.2186G>C (p.Ser729Thr) c.*1455G>C (n.*1455G>C) c.2231G>C (p.Ser744Thr) c.1061G>C (p.Ser354Thr) c.1529G>C (p.Ser510Thr) n.2518G>C n.2394G>C | gnomAD v4 |
| 15 | g.50997390G>T | CA392419909 | AP4E1 | c.2411G>T (p.Ser804Ile) c.*1535G>T (n.*1535G>T) c.2186G>T (p.Ser729Ile) c.*1455G>T (n.*1455G>T) c.2231G>T (p.Ser744Ile) c.1061G>T (p.Ser354Ile) c.1529G>T (p.Ser510Ile) n.2518G>T n.2394G>T | |
| 15 | g.50997391T>A | CA392419910 | AP4E1 | c.2412T>A (p.Ser804Arg) c.*1536T>A (n.*1536T>A) c.2187T>A (p.Ser729Arg) c.*1456T>A (n.*1456T>A) c.2232T>A (p.Ser744Arg) c.1062T>A (p.Ser354Arg) c.1530T>A (p.Ser510Arg) n.2519T>A n.2395T>A | |
| 15 | g.50997391T>C | CA490342010 | AP4E1 | c.2412T>C (p.Ser804=) c.*1536T>C (n.*1536T>C) c.2187T>C (p.Ser729=) c.*1456T>C (n.*1456T>C) c.2232T>C (p.Ser744=) c.1062T>C (p.Ser354=) c.1530T>C (p.Ser510=) n.2519T>C n.2395T>C | gnomAD v4 |
| 15 | g.50997391T>G | CA392419911 | AP4E1 | c.2412T>G (p.Ser804Arg) c.*1536T>G (n.*1536T>G) c.2187T>G (p.Ser729Arg) c.*1456T>G (n.*1456T>G) c.2232T>G (p.Ser744Arg) c.1062T>G (p.Ser354Arg) c.1530T>G (p.Ser510Arg) n.2519T>G n.2395T>G | |
| 15 | g.50997391dup | CA2695220834 | AP4E1 | c.2412dup (p.Gly805TrpfsTer8) c.*1536dup (n.*1536dup) c.2187dup (p.Gly730TrpfsTer8) c.*1456dup (n.*1456dup) c.2232dup (p.Gly745TrpfsTer8) c.1062dup (p.Gly355TrpfsTer8) c.1530dup (p.Gly511TrpfsTer8) n.2519dup n.2395dup | |
| 15 | g.50997392G>A | CA392419912 | AP4E1 | c.2413G>A (p.Gly805Ser) c.*1537G>A (n.*1537G>A) c.2188G>A (p.Gly730Ser) c.*1457G>A (n.*1457G>A) c.2233G>A (p.Gly745Ser) c.1063G>A (p.Gly355Ser) c.1531G>A (p.Gly511Ser) n.2520G>A n.2396G>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.50997392G>C | CA392419913 | AP4E1 | c.2413G>C (p.Gly805Arg) c.*1537G>C (n.*1537G>C) c.2188G>C (p.Gly730Arg) c.*1457G>C (n.*1457G>C) c.2233G>C (p.Gly745Arg) c.1063G>C (p.Gly355Arg) c.1531G>C (p.Gly511Arg) n.2520G>C n.2396G>C | dbSNP |
| 15 | g.50997392G= | CA2176672563 | AP4E1 | c.2413G= (p.Gly805=) c.*1537G= (n.*1537G=) c.2188G= (p.Gly730=) c.*1457G= (n.*1457G=) c.2233G= (p.Gly745=) c.1063G= (p.Gly355=) c.1531G= (p.Gly511=) n.2520G= n.2396G= | |
| 15 | g.50997392G>T | CA392419914 | AP4E1 | c.2413G>T (p.Gly805Cys) c.*1537G>T (n.*1537G>T) c.2188G>T (p.Gly730Cys) c.*1457G>T (n.*1457G>T) c.2233G>T (p.Gly745Cys) c.1063G>T (p.Gly355Cys) c.1531G>T (p.Gly511Cys) n.2520G>T n.2396G>T | |
| 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 |