Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.50997380G>ACA351375AP4E1c.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
15g.50997380G>CCA392419884AP4E1c.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
15g.50997380G=CA2176672547AP4E1c.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=
15g.50997380G>TCA392419885AP4E1c.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
15g.50997381A>CCA392419886AP4E1c.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
15g.50997381A>GCA392419887AP4E1c.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
15g.50997381A>TCA392419888AP4E1c.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
15g.50997382A=CA2176672551AP4E1c.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=
15g.50997382A>CCA392419889AP4E1c.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
15g.50997382A>GCA7559321AP4E1c.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
15g.50997382A>TCA392419890AP4E1c.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
15g.50997383G>ACA392419893AP4E1c.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
15g.50997383G>CCA392419892AP4E1c.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
15g.50997383G>TCA392419891AP4E1c.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
15g.50997384C>ACA392419894AP4E1c.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
15g.50997384C>GCA392419895AP4E1c.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
15g.50997384C>TCA392419896AP4E1c.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
15g.50997385T>ACA490342005AP4E1c.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
15g.50997385T>CCA490342006AP4E1c.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
15g.50997385T>GCA490342007AP4E1c.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
15g.50997386A=CA2176672554AP4E1c.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=
15g.50997386A>CCA392419897AP4E1c.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
15g.50997386A>GCA7559322AP4E1c.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
15g.50997386A>TCA392419898AP4E1c.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
15g.50997387A=CA2176672559AP4E1c.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=
15g.50997387A>CCA392419899AP4E1c.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
15g.50997387A>GCA392419900AP4E1c.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
15g.50997387A>TCA392419901AP4E1c.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
15g.50997388A>CCA392419902AP4E1c.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
15g.50997388A>GCA490342008AP4E1c.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
15g.50997388A>TCA392419903AP4E1c.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
15g.50997389A>CCA392419906AP4E1c.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
15g.50997389A>GCA392419905AP4E1c.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
15g.50997389A>TCA392419904AP4E1c.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
15g.50997390G>ACA392419907AP4E1c.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
15g.50997390G>CCA392419908AP4E1c.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
15g.50997390G>TCA392419909AP4E1c.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
15g.50997391T>ACA392419910AP4E1c.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
15g.50997391T>CCA490342010AP4E1c.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
15g.50997391T>GCA392419911AP4E1c.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
15g.50997391dupCA2695220834AP4E1c.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
15g.50997392G>ACA392419912AP4E1c.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
15g.50997392G>CCA392419913AP4E1c.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
15g.50997392G=CA2176672563AP4E1c.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=
15g.50997392G>TCA392419914AP4E1c.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
15g.50997393G>ACA392419915AP4E1c.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
15g.50997393G>CCA392419916AP4E1c.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
15g.50997393G>TCA392419917AP4E1c.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
15g.50997394C>ACA490342011AP4E1c.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
15g.50997394C=CA2176672568AP4E1c.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=

Number of alleles fetched