Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.50997380G>A | CA351375 | AP4E1 | c.2401G>A (p.Glu801Lys) c.*1525G>A (n.*1525G>A) c.2176G>A (p.Glu726Lys) c.*1445G>A (n.*1445G>A) c.2221G>A (p.Glu741Lys) c.1051G>A (p.Glu351Lys) c.1519G>A (p.Glu507Lys) n.2508G>A n.2384G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50997380G>C | CA392419884 | AP4E1 | c.2401G>C (p.Glu801Gln) c.*1525G>C (n.*1525G>C) c.2176G>C (p.Glu726Gln) c.*1445G>C (n.*1445G>C) c.2221G>C (p.Glu741Gln) c.1051G>C (p.Glu351Gln) c.1519G>C (p.Glu507Gln) n.2508G>C n.2384G>C | |
15 | g.50997380G= | CA2176672547 | AP4E1 | c.2401G= (p.Glu801=) c.*1525G= (n.*1525G=) c.2176G= (p.Glu726=) c.*1445G= (n.*1445G=) c.2221G= (p.Glu741=) c.1051G= (p.Glu351=) c.1519G= (p.Glu507=) n.2508G= n.2384G= | |
15 | g.50997380G>T | CA392419885 | AP4E1 | c.2401G>T (p.Glu801Ter) c.*1525G>T (n.*1525G>T) c.2176G>T (p.Glu726Ter) c.*1445G>T (n.*1445G>T) c.2221G>T (p.Glu741Ter) c.1051G>T (p.Glu351Ter) c.1519G>T (p.Glu507Ter) n.2508G>T n.2384G>T | |
15 | g.50997381A>C | CA392419886 | AP4E1 | c.2402A>C (p.Glu801Ala) c.*1526A>C (n.*1526A>C) c.2177A>C (p.Glu726Ala) c.*1446A>C (n.*1446A>C) c.2222A>C (p.Glu741Ala) c.1052A>C (p.Glu351Ala) c.1520A>C (p.Glu507Ala) n.2509A>C n.2385A>C | |
15 | g.50997381A>G | CA392419887 | AP4E1 | c.2402A>G (p.Glu801Gly) c.*1526A>G (n.*1526A>G) c.2177A>G (p.Glu726Gly) c.*1446A>G (n.*1446A>G) c.2222A>G (p.Glu741Gly) c.1052A>G (p.Glu351Gly) c.1520A>G (p.Glu507Gly) n.2509A>G n.2385A>G | gnomAD v4 |
15 | g.50997381A>T | CA392419888 | AP4E1 | c.2402A>T (p.Glu801Val) c.*1526A>T (n.*1526A>T) c.2177A>T (p.Glu726Val) c.*1446A>T (n.*1446A>T) c.2222A>T (p.Glu741Val) c.1052A>T (p.Glu351Val) c.1520A>T (p.Glu507Val) n.2509A>T n.2385A>T | |
15 | g.50997382A= | CA2176672551 | AP4E1 | c.2403A= (p.Glu801=) c.*1527A= (n.*1527A=) c.2178A= (p.Glu726=) c.*1447A= (n.*1447A=) c.2223A= (p.Glu741=) c.1053A= (p.Glu351=) c.1521A= (p.Glu507=) n.2510A= n.2386A= | |
15 | g.50997382A>C | CA392419889 | AP4E1 | c.2403A>C (p.Glu801Asp) c.*1527A>C (n.*1527A>C) c.2178A>C (p.Glu726Asp) c.*1447A>C (n.*1447A>C) c.2223A>C (p.Glu741Asp) c.1053A>C (p.Glu351Asp) c.1521A>C (p.Glu507Asp) n.2510A>C n.2386A>C | |
15 | g.50997382A>G | CA7559321 | AP4E1 | c.2403A>G (p.Glu801=) c.*1527A>G (n.*1527A>G) c.2178A>G (p.Glu726=) c.*1447A>G (n.*1447A>G) c.2223A>G (p.Glu741=) c.1053A>G (p.Glu351=) c.1521A>G (p.Glu507=) n.2510A>G n.2386A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.50997382A>T | CA392419890 | AP4E1 | c.2403A>T (p.Glu801Asp) c.*1527A>T (n.*1527A>T) c.2178A>T (p.Glu726Asp) c.*1447A>T (n.*1447A>T) c.2223A>T (p.Glu741Asp) c.1053A>T (p.Glu351Asp) c.1521A>T (p.Glu507Asp) n.2510A>T n.2386A>T | |
15 | g.50997383G>A | CA392419893 | AP4E1 | c.2404G>A (p.Ala802Thr) c.*1528G>A (n.*1528G>A) c.2179G>A (p.Ala727Thr) c.*1448G>A (n.*1448G>A) c.2224G>A (p.Ala742Thr) c.1054G>A (p.Ala352Thr) c.1522G>A (p.Ala508Thr) n.2511G>A n.2387G>A | gnomAD v4 |
15 | g.50997383G>C | CA392419892 | AP4E1 | c.2404G>C (p.Ala802Pro) c.*1528G>C (n.*1528G>C) c.2179G>C (p.Ala727Pro) c.*1448G>C (n.*1448G>C) c.2224G>C (p.Ala742Pro) c.1054G>C (p.Ala352Pro) c.1522G>C (p.Ala508Pro) n.2511G>C n.2387G>C | gnomAD v4 |
15 | g.50997383G>T | CA392419891 | AP4E1 | c.2404G>T (p.Ala802Ser) c.*1528G>T (n.*1528G>T) c.2179G>T (p.Ala727Ser) c.*1448G>T (n.*1448G>T) c.2224G>T (p.Ala742Ser) c.1054G>T (p.Ala352Ser) c.1522G>T (p.Ala508Ser) n.2511G>T n.2387G>T | |
15 | g.50997384C>A | CA392419894 | AP4E1 | c.2405C>A (p.Ala802Asp) c.*1529C>A (n.*1529C>A) c.2180C>A (p.Ala727Asp) c.*1449C>A (n.*1449C>A) c.2225C>A (p.Ala742Asp) c.1055C>A (p.Ala352Asp) c.1523C>A (p.Ala508Asp) n.2512C>A n.2388C>A | |
15 | g.50997384C>G | CA392419895 | AP4E1 | c.2405C>G (p.Ala802Gly) c.*1529C>G (n.*1529C>G) c.2180C>G (p.Ala727Gly) c.*1449C>G (n.*1449C>G) c.2225C>G (p.Ala742Gly) c.1055C>G (p.Ala352Gly) c.1523C>G (p.Ala508Gly) n.2512C>G n.2388C>G | |
15 | g.50997384C>T | CA392419896 | AP4E1 | c.2405C>T (p.Ala802Val) c.*1529C>T (n.*1529C>T) c.2180C>T (p.Ala727Val) c.*1449C>T (n.*1449C>T) c.2225C>T (p.Ala742Val) c.1055C>T (p.Ala352Val) c.1523C>T (p.Ala508Val) n.2512C>T n.2388C>T | |
15 | g.50997385T>A | CA490342005 | AP4E1 | c.2406T>A (p.Ala802=) c.*1530T>A (n.*1530T>A) c.2181T>A (p.Ala727=) c.*1450T>A (n.*1450T>A) c.2226T>A (p.Ala742=) c.1056T>A (p.Ala352=) c.1524T>A (p.Ala508=) n.2513T>A n.2389T>A | |
15 | g.50997385T>C | CA490342006 | AP4E1 | c.2406T>C (p.Ala802=) c.*1530T>C (n.*1530T>C) c.2181T>C (p.Ala727=) c.*1450T>C (n.*1450T>C) c.2226T>C (p.Ala742=) c.1056T>C (p.Ala352=) c.1524T>C (p.Ala508=) n.2513T>C n.2389T>C | |
15 | g.50997385T>G | CA490342007 | AP4E1 | c.2406T>G (p.Ala802=) c.*1530T>G (n.*1530T>G) c.2181T>G (p.Ala727=) c.*1450T>G (n.*1450T>G) c.2226T>G (p.Ala742=) c.1056T>G (p.Ala352=) c.1524T>G (p.Ala508=) n.2513T>G n.2389T>G | |
15 | g.50997386A= | CA2176672554 | AP4E1 | c.2407A= (p.Lys803=) c.*1531A= (n.*1531A=) c.2182A= (p.Lys728=) c.*1451A= (n.*1451A=) c.2227A= (p.Lys743=) c.1057A= (p.Lys353=) c.1525A= (p.Lys509=) n.2514A= n.2390A= | |
15 | g.50997386A>C | CA392419897 | AP4E1 | c.2407A>C (p.Lys803Gln) c.*1531A>C (n.*1531A>C) c.2182A>C (p.Lys728Gln) c.*1451A>C (n.*1451A>C) c.2227A>C (p.Lys743Gln) c.1057A>C (p.Lys353Gln) c.1525A>C (p.Lys509Gln) n.2514A>C n.2390A>C | |
15 | g.50997386A>G | CA7559322 | AP4E1 | c.2407A>G (p.Lys803Glu) c.*1531A>G (n.*1531A>G) c.2182A>G (p.Lys728Glu) c.*1451A>G (n.*1451A>G) c.2227A>G (p.Lys743Glu) c.1057A>G (p.Lys353Glu) c.1525A>G (p.Lys509Glu) n.2514A>G n.2390A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.50997386A>T | CA392419898 | AP4E1 | c.2407A>T (p.Lys803Ter) c.*1531A>T (n.*1531A>T) c.2182A>T (p.Lys728Ter) c.*1451A>T (n.*1451A>T) c.2227A>T (p.Lys743Ter) c.1057A>T (p.Lys353Ter) c.1525A>T (p.Lys509Ter) n.2514A>T n.2390A>T | |
15 | g.50997387A= | CA2176672559 | AP4E1 | c.2408A= (p.Lys803=) c.*1532A= (n.*1532A=) c.2183A= (p.Lys728=) c.*1452A= (n.*1452A=) c.2228A= (p.Lys743=) c.1058A= (p.Lys353=) c.1526A= (p.Lys509=) n.2515A= n.2391A= | |
15 | g.50997387A>C | CA392419899 | AP4E1 | c.2408A>C (p.Lys803Thr) c.*1532A>C (n.*1532A>C) c.2183A>C (p.Lys728Thr) c.*1452A>C (n.*1452A>C) c.2228A>C (p.Lys743Thr) c.1058A>C (p.Lys353Thr) c.1526A>C (p.Lys509Thr) n.2515A>C n.2391A>C | dbSNP |
15 | g.50997387A>G | CA392419900 | AP4E1 | c.2408A>G (p.Lys803Arg) c.*1532A>G (n.*1532A>G) c.2183A>G (p.Lys728Arg) c.*1452A>G (n.*1452A>G) c.2228A>G (p.Lys743Arg) c.1058A>G (p.Lys353Arg) c.1526A>G (p.Lys509Arg) n.2515A>G n.2391A>G | |
15 | g.50997387A>T | CA392419901 | AP4E1 | c.2408A>T (p.Lys803Ile) c.*1532A>T (n.*1532A>T) c.2183A>T (p.Lys728Ile) c.*1452A>T (n.*1452A>T) c.2228A>T (p.Lys743Ile) c.1058A>T (p.Lys353Ile) c.1526A>T (p.Lys509Ile) n.2515A>T n.2391A>T | |
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= |