UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.50997402_50997403insACCCCAAACACACC | CA2804135537 | AP4E1 | c.2423_2424insACCCCAAACACACC (p.Ser809ProfsTer10) c.*1547_*1548insACCCCAAACACACC (n.*1547_*1548insACCCCAAACACACC) c.2198_2199insACCCCAAACACACC (p.Ser734ProfsTer10) c.*1467_*1468insACCCCAAACACACC (n.*1467_*1468insACCCCAAACACACC) c.2243_2244insACCCCAAACACACC (p.Ser749ProfsTer10) c.1073_1074insACCCCAAACACACC (p.Ser359ProfsTer10) c.1541_1542insACCCCAAACACACC (p.Ser515ProfsTer10) n.2530_2531insACCCCAAACACACC n.2406_2407insACCCCAAACACACC | |
| 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 | |
| 15 | g.50997407A>T | CA392419945 | AP4E1 | c.2428A>T (p.Thr810Ser) c.*1552A>T (n.*1552A>T) c.2203A>T (p.Thr735Ser) c.*1472A>T (n.*1472A>T) c.2248A>T (p.Thr750Ser) c.1078A>T (p.Thr360Ser) c.1546A>T (p.Thr516Ser) n.2535A>T n.2411A>T | |
| 15 | g.50997408C>A | CA392419947 | AP4E1 | c.2429C>A (p.Thr810Asn) c.*1553C>A (n.*1553C>A) c.2204C>A (p.Thr735Asn) c.*1473C>A (n.*1473C>A) c.2249C>A (p.Thr750Asn) c.1079C>A (p.Thr360Asn) c.1547C>A (p.Thr516Asn) n.2536C>A n.2412C>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.50997408C= | CA2176672595 | AP4E1 | c.2429C= (p.Thr810=) c.*1553C= (n.*1553C=) c.2204C= (p.Thr735=) c.*1473C= (n.*1473C=) c.2249C= (p.Thr750=) c.1079C= (p.Thr360=) c.1547C= (p.Thr516=) n.2536C= n.2412C= | |
| 15 | g.50997408C>G | CA392419946 | AP4E1 | c.2429C>G (p.Thr810Ser) c.*1553C>G (n.*1553C>G) c.2204C>G (p.Thr735Ser) c.*1473C>G (n.*1473C>G) c.2249C>G (p.Thr750Ser) c.1079C>G (p.Thr360Ser) c.1547C>G (p.Thr516Ser) n.2536C>G n.2412C>G | |
| 15 | g.50997408C>T | CA151840 | AP4E1 | c.2429C>T (p.Thr810Ile) c.*1553C>T (n.*1553C>T) c.2204C>T (p.Thr735Ile) c.*1473C>T (n.*1473C>T) c.2249C>T (p.Thr750Ile) c.1079C>T (p.Thr360Ile) c.1547C>T (p.Thr516Ile) n.2536C>T n.2412C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50997409T>A | CA490342020 | AP4E1 | c.2430T>A (p.Thr810=) c.*1554T>A (n.*1554T>A) c.2205T>A (p.Thr735=) c.*1474T>A (n.*1474T>A) c.2250T>A (p.Thr750=) c.1080T>A (p.Thr360=) c.1548T>A (p.Thr516=) n.2537T>A n.2413T>A | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.50997409T>C | CA490342021 | AP4E1 | c.2430T>C (p.Thr810=) c.*1554T>C (n.*1554T>C) c.2205T>C (p.Thr735=) c.*1474T>C (n.*1474T>C) c.2250T>C (p.Thr750=) c.1080T>C (p.Thr360=) c.1548T>C (p.Thr516=) n.2537T>C n.2413T>C | |
| 15 | g.50997409T>G | CA490342022 | AP4E1 | c.2430T>G (p.Thr810=) c.*1554T>G (n.*1554T>G) c.2205T>G (p.Thr735=) c.*1474T>G (n.*1474T>G) c.2250T>G (p.Thr750=) c.1080T>G (p.Thr360=) c.1548T>G (p.Thr516=) n.2537T>G n.2413T>G | |
| 15 | g.50997409T= | CA2176672604 | AP4E1 | c.2430T= (p.Thr810=) c.*1554T= (n.*1554T=) c.2205T= (p.Thr735=) c.*1474T= (n.*1474T=) c.2250T= (p.Thr750=) c.1080T= (p.Thr360=) c.1548T= (p.Thr516=) n.2537T= n.2413T= | |
| 15 | g.50997410C>A | CA392419948 | AP4E1 | c.2431C>A (p.His811Asn) c.*1555C>A (n.*1555C>A) c.2206C>A (p.His736Asn) c.*1475C>A (n.*1475C>A) c.2251C>A (p.His751Asn) c.1081C>A (p.His361Asn) c.1549C>A (p.His517Asn) n.2538C>A n.2414C>A | |
| 15 | g.50997410C>G | CA392419949 | AP4E1 | c.2431C>G (p.His811Asp) c.*1555C>G (n.*1555C>G) c.2206C>G (p.His736Asp) c.*1475C>G (n.*1475C>G) c.2251C>G (p.His751Asp) c.1081C>G (p.His361Asp) c.1549C>G (p.His517Asp) n.2538C>G n.2414C>G | |
| 15 | g.50997410C>T | CA392419950 | AP4E1 | c.2431C>T (p.His811Tyr) c.*1555C>T (n.*1555C>T) c.2206C>T (p.His736Tyr) c.*1475C>T (n.*1475C>T) c.2251C>T (p.His751Tyr) c.1081C>T (p.His361Tyr) c.1549C>T (p.His517Tyr) n.2538C>T n.2414C>T | |
| 15 | g.50997411A= | CA2176672606 | AP4E1 | c.2432A= (p.His811=) c.*1556A= (n.*1556A=) c.2207A= (p.His736=) c.*1476A= (n.*1476A=) c.2252A= (p.His751=) c.1082A= (p.His361=) c.1550A= (p.His517=) n.2539A= n.2415A= | |
| 15 | g.50997411A>C | CA392419951 | AP4E1 | c.2432A>C (p.His811Pro) c.*1556A>C (n.*1556A>C) c.2207A>C (p.His736Pro) c.*1476A>C (n.*1476A>C) c.2252A>C (p.His751Pro) c.1082A>C (p.His361Pro) c.1550A>C (p.His517Pro) n.2539A>C n.2415A>C | |
| 15 | g.50997411A>G | CA392419952 | AP4E1 | c.2432A>G (p.His811Arg) c.*1556A>G (n.*1556A>G) c.2207A>G (p.His736Arg) c.*1476A>G (n.*1476A>G) c.2252A>G (p.His751Arg) c.1082A>G (p.His361Arg) c.1550A>G (p.His517Arg) n.2539A>G n.2415A>G | |
| 15 | g.50997411A>T | CA392419953 | AP4E1 | c.2432A>T (p.His811Leu) c.*1556A>T (n.*1556A>T) c.2207A>T (p.His736Leu) c.*1476A>T (n.*1476A>T) c.2252A>T (p.His751Leu) c.1082A>T (p.His361Leu) c.1550A>T (p.His517Leu) n.2539A>T n.2415A>T | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.50997412T>A | CA392419954 | AP4E1 | c.2433T>A (p.His811Gln) c.*1557T>A (n.*1557T>A) c.2208T>A (p.His736Gln) c.*1477T>A (n.*1477T>A) c.2253T>A (p.His751Gln) c.1083T>A (p.His361Gln) c.1551T>A (p.His517Gln) n.2540T>A n.2416T>A | gnomAD v4 |
| 15 | g.50997412T>C | CA490342023 | AP4E1 | c.2433T>C (p.His811=) c.*1557T>C (n.*1557T>C) c.2208T>C (p.His736=) c.*1477T>C (n.*1477T>C) c.2253T>C (p.His751=) c.1083T>C (p.His361=) c.1551T>C (p.His517=) n.2540T>C n.2416T>C | gnomAD v4 |
| 15 | g.50997412T>G | CA392419955 | AP4E1 | c.2433T>G (p.His811Gln) c.*1557T>G (n.*1557T>G) c.2208T>G (p.His736Gln) c.*1477T>G (n.*1477T>G) c.2253T>G (p.His751Gln) c.1083T>G (p.His361Gln) c.1551T>G (p.His517Gln) n.2540T>G n.2416T>G | |
| 15 | g.50997413A>C | CA392419956 | AP4E1 | c.2434A>C (p.Asn812His) c.*1558A>C (n.*1558A>C) c.2209A>C (p.Asn737His) c.*1478A>C (n.*1478A>C) c.2254A>C (p.Asn752His) c.1084A>C (p.Asn362His) c.1552A>C (p.Asn518His) n.2541A>C n.2417A>C | |
| 15 | g.50997413A>G | CA392419957 | AP4E1 | c.2434A>G (p.Asn812Asp) c.*1558A>G (n.*1558A>G) c.2209A>G (p.Asn737Asp) c.*1478A>G (n.*1478A>G) c.2254A>G (p.Asn752Asp) c.1084A>G (p.Asn362Asp) c.1552A>G (p.Asn518Asp) n.2541A>G n.2417A>G | |
| 15 | g.50997413A>T | CA392419958 | AP4E1 | c.2434A>T (p.Asn812Tyr) c.*1558A>T (n.*1558A>T) c.2209A>T (p.Asn737Tyr) c.*1478A>T (n.*1478A>T) c.2254A>T (p.Asn752Tyr) c.1084A>T (p.Asn362Tyr) c.1552A>T (p.Asn518Tyr) n.2541A>T n.2417A>T | |
| 15 | g.50997414A>C | CA392419960 | AP4E1 | c.2435A>C (p.Asn812Thr) c.*1559A>C (n.*1559A>C) c.2210A>C (p.Asn737Thr) c.*1479A>C (n.*1479A>C) c.2255A>C (p.Asn752Thr) c.1085A>C (p.Asn362Thr) c.1553A>C (p.Asn518Thr) n.2542A>C n.2418A>C | |
| 15 | g.50997414A>G | CA392419961 | AP4E1 | c.2435A>G (p.Asn812Ser) c.*1559A>G (n.*1559A>G) c.2210A>G (p.Asn737Ser) c.*1479A>G (n.*1479A>G) c.2255A>G (p.Asn752Ser) c.1085A>G (p.Asn362Ser) c.1553A>G (p.Asn518Ser) n.2542A>G n.2418A>G | |
| 15 | g.50997414A>T | CA392419959 | AP4E1 | c.2435A>T (p.Asn812Ile) c.*1559A>T (n.*1559A>T) c.2210A>T (p.Asn737Ile) c.*1479A>T (n.*1479A>T) c.2255A>T (p.Asn752Ile) c.1085A>T (p.Asn362Ile) c.1553A>T (p.Asn518Ile) n.2542A>T n.2418A>T | |
| 15 | g.50997415T>A | CA392419962 | AP4E1 | c.2436T>A (p.Asn812Lys) c.*1560T>A (n.*1560T>A) c.2211T>A (p.Asn737Lys) c.*1480T>A (n.*1480T>A) c.2256T>A (p.Asn752Lys) c.1086T>A (p.Asn362Lys) c.1554T>A (p.Asn518Lys) n.2543T>A n.2419T>A | |
| 15 | g.50997415T>C | CA490342024 | AP4E1 | c.2436T>C (p.Asn812=) c.*1560T>C (n.*1560T>C) c.2211T>C (p.Asn737=) c.*1480T>C (n.*1480T>C) c.2256T>C (p.Asn752=) c.1086T>C (p.Asn362=) c.1554T>C (p.Asn518=) n.2543T>C n.2419T>C | |
| 15 | g.50997415T>G | CA392419963 | AP4E1 | c.2436T>G (p.Asn812Lys) c.*1560T>G (n.*1560T>G) c.2211T>G (p.Asn737Lys) c.*1480T>G (n.*1480T>G) c.2256T>G (p.Asn752Lys) c.1086T>G (p.Asn362Lys) c.1554T>G (p.Asn518Lys) n.2543T>G n.2419T>G | |
| 15 | g.50997416A= | CA2176672610 | AP4E1 | c.2437A= (p.Met813=) c.*1561A= (n.*1561A=) c.2212A= (p.Met738=) c.*1481A= (n.*1481A=) c.2257A= (p.Met753=) c.1087A= (p.Met363=) c.1555A= (p.Met519=) n.2544A= n.2420A= | |
| 15 | g.50997416A>C | CA392419964 | AP4E1 | c.2437A>C (p.Met813Leu) c.*1561A>C (n.*1561A>C) c.2212A>C (p.Met738Leu) c.*1481A>C (n.*1481A>C) c.2257A>C (p.Met753Leu) c.1087A>C (p.Met363Leu) c.1555A>C (p.Met519Leu) n.2544A>C n.2420A>C | |
| 15 | g.50997416A>G | CA7559327 | AP4E1 | c.2437A>G (p.Met813Val) c.*1561A>G (n.*1561A>G) c.2212A>G (p.Met738Val) c.*1481A>G (n.*1481A>G) c.2257A>G (p.Met753Val) c.1087A>G (p.Met363Val) c.1555A>G (p.Met519Val) n.2544A>G n.2420A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50997416A>T | CA392419965 | AP4E1 | c.2437A>T (p.Met813Leu) c.*1561A>T (n.*1561A>T) c.2212A>T (p.Met738Leu) c.*1481A>T (n.*1481A>T) c.2257A>T (p.Met753Leu) c.1087A>T (p.Met363Leu) c.1555A>T (p.Met519Leu) n.2544A>T n.2420A>T | |
| 15 | g.50997416_50997417insATATAAAAAGAAATCAT | CA2176672614 | AP4E1 | c.2437_2438insATATAAAAAGAAATCAT (p.Met813AsnfsTer7) c.*1561_*1562insATATAAAAAGAAATCAT (n.*1561_*1562insATATAAAAAGAAATCAT) c.2212_2213insATATAAAAAGAAATCAT (p.Met738AsnfsTer7) c.*1481_*1482insATATAAAAAGAAATCAT (n.*1481_*1482insATATAAAAAGAAATCAT) c.2257_2258insATATAAAAAGAAATCAT (p.Met753AsnfsTer7) c.1087_1088insATATAAAAAGAAATCAT (p.Met363AsnfsTer7) c.1555_1556insATATAAAAAGAAATCAT (p.Met519AsnfsTer7) n.2544_2545insATATAAAAAGAAATCAT n.2420_2421insATATAAAAAGAAATCAT | dbSNP |
| 15 | g.50997417T>A | CA392419968 | AP4E1 | c.2438T>A (p.Met813Lys) c.*1562T>A (n.*1562T>A) c.2213T>A (p.Met738Lys) c.*1482T>A (n.*1482T>A) c.2258T>A (p.Met753Lys) c.1088T>A (p.Met363Lys) c.1556T>A (p.Met519Lys) n.2545T>A n.2421T>A | |
| 15 | g.50997417T>C | CA392419967 | AP4E1 | c.2438T>C (p.Met813Thr) c.*1562T>C (n.*1562T>C) c.2213T>C (p.Met738Thr) c.*1482T>C (n.*1482T>C) c.2258T>C (p.Met753Thr) c.1088T>C (p.Met363Thr) c.1556T>C (p.Met519Thr) n.2545T>C n.2421T>C | COSMIC |
| 15 | g.50997417T>G | CA392419966 | AP4E1 | c.2438T>G (p.Met813Arg) c.*1562T>G (n.*1562T>G) c.2213T>G (p.Met738Arg) c.*1482T>G (n.*1482T>G) c.2258T>G (p.Met753Arg) c.1088T>G (p.Met363Arg) c.1556T>G (p.Met519Arg) n.2545T>G n.2421T>G | |
| 15 | g.50997417T= | CA2176672617 | AP4E1 | c.2438T= (p.Met813=) c.*1562T= (n.*1562T=) c.2213T= (p.Met738=) c.*1482T= (n.*1482T=) c.2258T= (p.Met753=) c.1088T= (p.Met363=) c.1556T= (p.Met519=) n.2545T= n.2421T= | |
| 15 | g.50997417_50997418dup | CA2176672615 | AP4E1 | c.2438_2439dup (p.Thr814Ter) c.*1562_*1563dup (n.*1562_*1563dup) c.2213_2214dup (p.Thr739Ter) c.*1482_*1483dup (n.*1482_*1483dup) c.2258_2259dup (p.Thr754Ter) c.1088_1089dup (p.Thr364Ter) c.1556_1557dup (p.Thr520Ter) n.2545_2546dup n.2421_2422dup | dbSNP |
| 15 | g.50997417_50997418insAAAAA | CA2176672618 | AP4E1 | c.2438_2439insAAAAA (p.Met813IlefsTer?) c.*1562_*1563insAAAAA (n.*1562_*1563insAAAAA) c.2213_2214insAAAAA (p.Met738IlefsTer?) c.*1482_*1483insAAAAA (n.*1482_*1483insAAAAA) c.2258_2259insAAAAA (p.Met753IlefsTer?) c.1088_1089insAAAAA (p.Met363IlefsTer?) c.1556_1557insAAAAA (p.Met519IlefsTer?) n.2545_2546insAAAAA n.2421_2422insAAAAA | dbSNP |
| 15 | g.50997418G>A | CA392419969 | AP4E1 | c.2439G>A (p.Met813Ile) c.*1563G>A (n.*1563G>A) c.2214G>A (p.Met738Ile) c.*1483G>A (n.*1483G>A) c.2259G>A (p.Met753Ile) c.1089G>A (p.Met363Ile) c.1557G>A (p.Met519Ile) n.2546G>A n.2422G>A | |
| 15 | g.50997418G>C | CA392419970 | AP4E1 | c.2439G>C (p.Met813Ile) c.*1563G>C (n.*1563G>C) c.2214G>C (p.Met738Ile) c.*1483G>C (n.*1483G>C) c.2259G>C (p.Met753Ile) c.1089G>C (p.Met363Ile) c.1557G>C (p.Met519Ile) n.2546G>C n.2422G>C | |
| 15 | g.50997418G>T | CA392419971 | AP4E1 | c.2439G>T (p.Met813Ile) c.*1563G>T (n.*1563G>T) c.2214G>T (p.Met738Ile) c.*1483G>T (n.*1483G>T) c.2259G>T (p.Met753Ile) c.1089G>T (p.Met363Ile) c.1557G>T (p.Met519Ile) n.2546G>T n.2422G>T | gnomAD v4 |
| 15 | g.50997419A= | CA2176672620 | AP4E1 | c.2440A= (p.Thr814=) c.*1564A= (n.*1564A=) c.2215A= (p.Thr739=) c.*1484A= (n.*1484A=) c.2260A= (p.Thr754=) c.1090A= (p.Thr364=) c.1558A= (p.Thr520=) n.2547A= n.2423A= | |
| 15 | g.50997419A>C | CA392419972 | AP4E1 | c.2440A>C (p.Thr814Pro) c.*1564A>C (n.*1564A>C) c.2215A>C (p.Thr739Pro) c.*1484A>C (n.*1484A>C) c.2260A>C (p.Thr754Pro) c.1090A>C (p.Thr364Pro) c.1558A>C (p.Thr520Pro) n.2547A>C n.2423A>C | |
| 15 | g.50997419A>G | CA392419973 | AP4E1 | c.2440A>G (p.Thr814Ala) c.*1564A>G (n.*1564A>G) c.2215A>G (p.Thr739Ala) c.*1484A>G (n.*1484A>G) c.2260A>G (p.Thr754Ala) c.1090A>G (p.Thr364Ala) c.1558A>G (p.Thr520Ala) n.2547A>G n.2423A>G | |
| 15 | g.50997419A>T | CA392419974 | AP4E1 | c.2440A>T (p.Thr814Ser) c.*1564A>T (n.*1564A>T) c.2215A>T (p.Thr739Ser) c.*1484A>T (n.*1484A>T) c.2260A>T (p.Thr754Ser) c.1090A>T (p.Thr364Ser) c.1558A>T (p.Thr520Ser) n.2547A>T n.2423A>T | |
| 15 | g.50997419_50997420insAAT | CA2176672622 | AP4E1 | c.2440_2441insAAT (p.Thr814delinsLysSer) c.*1564_*1565insAAT (n.*1564_*1565insAAT) c.2215_2216insAAT (p.Thr739delinsLysSer) c.*1484_*1485insAAT (n.*1484_*1485insAAT) c.2260_2261insAAT (p.Thr754delinsLysSer) c.1090_1091insAAT (p.Thr364delinsLysSer) c.1558_1559insAAT (p.Thr520delinsLysSer) n.2547_2548insAAT n.2423_2424insAAT | dbSNP |
| 15 | g.50997420C>A | CA392419975 | AP4E1 | c.2441C>A (p.Thr814Asn) c.*1565C>A (n.*1565C>A) c.2216C>A (p.Thr739Asn) c.*1485C>A (n.*1485C>A) c.2261C>A (p.Thr754Asn) c.1091C>A (p.Thr364Asn) c.1559C>A (p.Thr520Asn) n.2548C>A n.2424C>A | |
| 15 | g.50997420C>G | CA392419977 | AP4E1 | c.2441C>G (p.Thr814Ser) c.*1565C>G (n.*1565C>G) c.2216C>G (p.Thr739Ser) c.*1485C>G (n.*1485C>G) c.2261C>G (p.Thr754Ser) c.1091C>G (p.Thr364Ser) c.1559C>G (p.Thr520Ser) n.2548C>G n.2424C>G | |
| 15 | g.50997420C>T | CA392419976 | AP4E1 | c.2441C>T (p.Thr814Ile) c.*1565C>T (n.*1565C>T) c.2216C>T (p.Thr739Ile) c.*1485C>T (n.*1485C>T) c.2261C>T (p.Thr754Ile) c.1091C>T (p.Thr364Ile) c.1559C>T (p.Thr520Ile) n.2548C>T n.2424C>T | |
| 15 | g.50997420_50997422delinsCCT | CA2176672623 | AP4E1 | c.2441_2443delinsCCT (p.Thr814=) c.*1565_*1567delinsCCT (n.*1565_*1567delinsCCT) c.2216_2218delinsCCT (p.Thr739=) c.*1485_*1487delinsCCT (n.*1485_*1487delinsCCT) c.2261_2263delinsCCT (p.Thr754=) c.1091_1093delinsCCT (p.Thr364=) c.1559_1561delinsCCT (p.Thr520=) n.2548_2550delinsCCT n.2424_2426delinsCCT | |
| 15 | g.50997421C>A | CA490342025 | AP4E1 | c.2442C>A (p.Thr814=) c.*1566C>A (n.*1566C>A) c.2217C>A (p.Thr739=) c.*1486C>A (n.*1486C>A) c.2262C>A (p.Thr754=) c.1092C>A (p.Thr364=) c.1560C>A (p.Thr520=) n.2549C>A n.2425C>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.50997421C= | CA2176672628 | AP4E1 | c.2442C= (p.Thr814=) c.*1566C= (n.*1566C=) c.2217C= (p.Thr739=) c.*1486C= (n.*1486C=) c.2262C= (p.Thr754=) c.1092C= (p.Thr364=) c.1560C= (p.Thr520=) n.2549C= n.2425C= | |
| 15 | g.50997421C>G | CA490342026 | AP4E1 | c.2442C>G (p.Thr814=) c.*1566C>G (n.*1566C>G) c.2217C>G (p.Thr739=) c.*1486C>G (n.*1486C>G) c.2262C>G (p.Thr754=) c.1092C>G (p.Thr364=) c.1560C>G (p.Thr520=) n.2549C>G n.2425C>G | gnomAD v4 |
| 15 | g.50997421C>T | CA490342027 | AP4E1 | c.2442C>T (p.Thr814=) c.*1566C>T (n.*1566C>T) c.2217C>T (p.Thr739=) c.*1486C>T (n.*1486C>T) c.2262C>T (p.Thr754=) c.1092C>T (p.Thr364=) c.1560C>T (p.Thr520=) n.2549C>T n.2425C>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.50997421_50997422del | CA2176672626 | AP4E1 | c.2442_2443del (p.Cys815PhefsTer4) c.*1566_*1567del (n.*1566_*1567del) c.2217_2218del (p.Cys740PhefsTer4) c.*1486_*1487del (n.*1486_*1487del) c.2262_2263del (p.Cys755PhefsTer4) c.1092_1093del (p.Cys365PhefsTer4) c.1560_1561del (p.Cys521PhefsTer4) n.2549_2550del n.2425_2426del | dbSNP |
| 15 | g.50997422T>A | CA392419978 | AP4E1 | c.2443T>A (p.Cys815Ser) c.*1567T>A (n.*1567T>A) c.2218T>A (p.Cys740Ser) c.*1487T>A (n.*1487T>A) c.2263T>A (p.Cys755Ser) c.1093T>A (p.Cys365Ser) c.1561T>A (p.Cys521Ser) n.2550T>A n.2426T>A | |
| 15 | g.50997422T>C | CA392419979 | AP4E1 | c.2443T>C (p.Cys815Arg) c.*1567T>C (n.*1567T>C) c.2218T>C (p.Cys740Arg) c.*1487T>C (n.*1487T>C) c.2263T>C (p.Cys755Arg) c.1093T>C (p.Cys365Arg) c.1561T>C (p.Cys521Arg) n.2550T>C n.2426T>C | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.50997422T>G | CA392419980 | AP4E1 | c.2443T>G (p.Cys815Gly) c.*1567T>G (n.*1567T>G) c.2218T>G (p.Cys740Gly) c.*1487T>G (n.*1487T>G) c.2263T>G (p.Cys755Gly) c.1093T>G (p.Cys365Gly) c.1561T>G (p.Cys521Gly) n.2550T>G n.2426T>G | |
| 15 | g.50997422T= | CA2176672630 | AP4E1 | c.2443T= (p.Cys815=) c.*1567T= (n.*1567T=) c.2218T= (p.Cys740=) c.*1487T= (n.*1487T=) c.2263T= (p.Cys755=) c.1093T= (p.Cys365=) c.1561T= (p.Cys521=) n.2550T= n.2426T= | |
| 15 | g.50997423G>A | CA270525807 | AP4E1 | c.2444G>A (p.Cys815Tyr) c.*1568G>A (n.*1568G>A) c.2219G>A (p.Cys740Tyr) c.*1488G>A (n.*1488G>A) c.2264G>A (p.Cys755Tyr) c.1094G>A (p.Cys365Tyr) c.1562G>A (p.Cys521Tyr) n.2551G>A n.2427G>A | dbSNP gnomAD v4 |
| 15 | g.50997423G>C | CA392419981 | AP4E1 | c.2444G>C (p.Cys815Ser) c.*1568G>C (n.*1568G>C) c.2219G>C (p.Cys740Ser) c.*1488G>C (n.*1488G>C) c.2264G>C (p.Cys755Ser) c.1094G>C (p.Cys365Ser) c.1562G>C (p.Cys521Ser) n.2551G>C n.2427G>C | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.50997423G= | CA2176672632 | AP4E1 | c.2444G= (p.Cys815=) c.*1568G= (n.*1568G=) c.2219G= (p.Cys740=) c.*1488G= (n.*1488G=) c.2264G= (p.Cys755=) c.1094G= (p.Cys365=) c.1562G= (p.Cys521=) n.2551G= n.2427G= | |
| 15 | g.50997423G>T | CA392419982 | AP4E1 | c.2444G>T (p.Cys815Phe) c.*1568G>T (n.*1568G>T) c.2219G>T (p.Cys740Phe) c.*1488G>T (n.*1488G>T) c.2264G>T (p.Cys755Phe) c.1094G>T (p.Cys365Phe) c.1562G>T (p.Cys521Phe) n.2551G>T n.2427G>T | gnomAD v4 |
| 15 | g.50997424T>A | CA392419983 | AP4E1 | c.2445T>A (p.Cys815Ter) c.*1569T>A (n.*1569T>A) c.2220T>A (p.Cys740Ter) c.*1489T>A (n.*1489T>A) c.2265T>A (p.Cys755Ter) c.1095T>A (p.Cys365Ter) c.1563T>A (p.Cys521Ter) n.2552T>A n.2428T>A | |
| 15 | g.50997424T>C | CA270525808 | AP4E1 | c.2445T>C (p.Cys815=) c.*1569T>C (n.*1569T>C) c.2220T>C (p.Cys740=) c.*1489T>C (n.*1489T>C) c.2265T>C (p.Cys755=) c.1095T>C (p.Cys365=) c.1563T>C (p.Cys521=) n.2552T>C n.2428T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.50997424T>G | CA392419984 | AP4E1 | c.2445T>G (p.Cys815Trp) c.*1569T>G (n.*1569T>G) c.2220T>G (p.Cys740Trp) c.*1489T>G (n.*1489T>G) c.2265T>G (p.Cys755Trp) c.1095T>G (p.Cys365Trp) c.1563T>G (p.Cys521Trp) n.2552T>G n.2428T>G | |
| 15 | g.50997424T= | CA2176672634 | AP4E1 | c.2445T= (p.Cys815=) c.*1569T= (n.*1569T=) c.2220T= (p.Cys740=) c.*1489T= (n.*1489T=) c.2265T= (p.Cys755=) c.1095T= (p.Cys365=) c.1563T= (p.Cys521=) n.2552T= n.2428T= | |
| 15 | g.50997425T>A | CA392419985 | AP4E1 | c.2446T>A (p.Ser816Thr) c.*1570T>A (n.*1570T>A) c.2221T>A (p.Ser741Thr) c.*1490T>A (n.*1490T>A) c.2266T>A (p.Ser756Thr) c.1096T>A (p.Ser366Thr) c.1564T>A (p.Ser522Thr) n.2553T>A n.2429T>A | |
| 15 | g.50997425T>C | CA392419986 | AP4E1 | c.2446T>C (p.Ser816Pro) c.*1570T>C (n.*1570T>C) c.2221T>C (p.Ser741Pro) c.*1490T>C (n.*1490T>C) c.2266T>C (p.Ser756Pro) c.1096T>C (p.Ser366Pro) c.1564T>C (p.Ser522Pro) n.2553T>C n.2429T>C | ClinVar |
| 15 | g.50997425T>G | CA392419987 | AP4E1 | c.2446T>G (p.Ser816Ala) c.*1570T>G (n.*1570T>G) c.2221T>G (p.Ser741Ala) c.*1490T>G (n.*1490T>G) c.2266T>G (p.Ser756Ala) c.1096T>G (p.Ser366Ala) c.1564T>G (p.Ser522Ala) n.2553T>G n.2429T>G | |
| 15 | g.50997426C>A | CA392419988 | AP4E1 | c.2447C>A (p.Ser816Tyr) c.*1571C>A (n.*1571C>A) c.2222C>A (p.Ser741Tyr) c.*1491C>A (n.*1491C>A) c.2267C>A (p.Ser756Tyr) c.1097C>A (p.Ser366Tyr) c.1565C>A (p.Ser522Tyr) n.2554C>A n.2430C>A | |
| 15 | g.50997426C= | CA2176672637 | AP4E1 | c.2447C= (p.Ser816=) c.*1571C= (n.*1571C=) c.2222C= (p.Ser741=) c.*1491C= (n.*1491C=) c.2267C= (p.Ser756=) c.1097C= (p.Ser366=) c.1565C= (p.Ser522=) n.2554C= n.2430C= | |
| 15 | g.50997426C>G | CA7559329 | AP4E1 | c.2447C>G (p.Ser816Cys) c.*1571C>G (n.*1571C>G) c.2222C>G (p.Ser741Cys) c.*1491C>G (n.*1491C>G) c.2267C>G (p.Ser756Cys) c.1097C>G (p.Ser366Cys) c.1565C>G (p.Ser522Cys) n.2554C>G n.2430C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50997426C>T | CA7559328 | AP4E1 | c.2447C>T (p.Ser816Phe) c.*1571C>T (n.*1571C>T) c.2222C>T (p.Ser741Phe) c.*1491C>T (n.*1491C>T) c.2267C>T (p.Ser756Phe) c.1097C>T (p.Ser366Phe) c.1565C>T (p.Ser522Phe) n.2554C>T n.2430C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.50997427T>A | CA490342028 | AP4E1 | c.2448T>A (p.Ser816=) c.*1572T>A (n.*1572T>A) c.2223T>A (p.Ser741=) c.*1492T>A (n.*1492T>A) c.2268T>A (p.Ser756=) c.1098T>A (p.Ser366=) c.1566T>A (p.Ser522=) n.2555T>A n.2431T>A | |
| 15 | g.50997427T>C | CA7559330 | AP4E1 | c.2448T>C (p.Ser816=) c.*1572T>C (n.*1572T>C) c.2223T>C (p.Ser741=) c.*1492T>C (n.*1492T>C) c.2268T>C (p.Ser756=) c.1098T>C (p.Ser366=) c.1566T>C (p.Ser522=) n.2555T>C n.2431T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.50997427T>G | CA490342029 | AP4E1 | c.2448T>G (p.Ser816=) c.*1572T>G (n.*1572T>G) c.2223T>G (p.Ser741=) c.*1492T>G (n.*1492T>G) c.2268T>G (p.Ser756=) c.1098T>G (p.Ser366=) c.1566T>G (p.Ser522=) n.2555T>G n.2431T>G | |
| 15 | g.50997427T= | CA2176672640 | AP4E1 | c.2448T= (p.Ser816=) c.*1572T= (n.*1572T=) c.2223T= (p.Ser741=) c.*1492T= (n.*1492T=) c.2268T= (p.Ser756=) c.1098T= (p.Ser366=) c.1566T= (p.Ser522=) n.2555T= n.2431T= | |
| 15 | g.50997428T>A | CA392419990 | AP4E1 | c.2449T>A (p.Ser817Thr) c.*1573T>A (n.*1573T>A) c.2224T>A (p.Ser742Thr) c.*1493T>A (n.*1493T>A) c.2269T>A (p.Ser757Thr) c.1099T>A (p.Ser367Thr) c.1567T>A (p.Ser523Thr) n.2556T>A n.2432T>A | gnomAD v4 |
| 15 | g.50997428T>C | CA392419989 | AP4E1 | c.2449T>C (p.Ser817Pro) c.*1573T>C (n.*1573T>C) c.2224T>C (p.Ser742Pro) c.*1493T>C (n.*1493T>C) c.2269T>C (p.Ser757Pro) c.1099T>C (p.Ser367Pro) c.1567T>C (p.Ser523Pro) n.2556T>C n.2432T>C | |
| 15 | g.50997428T>G | CA392419991 | AP4E1 | c.2449T>G (p.Ser817Ala) c.*1573T>G (n.*1573T>G) c.2224T>G (p.Ser742Ala) c.*1493T>G (n.*1493T>G) c.2269T>G (p.Ser757Ala) c.1099T>G (p.Ser367Ala) c.1567T>G (p.Ser523Ala) n.2556T>G n.2432T>G | gnomAD v4 |
| 15 | g.50997429C>A | CA270525821 | AP4E1 | c.2450C>A (p.Ser817Tyr) c.*1574C>A (n.*1574C>A) c.2225C>A (p.Ser742Tyr) c.*1494C>A (n.*1494C>A) c.2270C>A (p.Ser757Tyr) c.1100C>A (p.Ser367Tyr) c.1568C>A (p.Ser523Tyr) n.2557C>A n.2433C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.50997429C= | CA2176672644 | AP4E1 | c.2450C= (p.Ser817=) c.*1574C= (n.*1574C=) c.2225C= (p.Ser742=) c.*1494C= (n.*1494C=) c.2270C= (p.Ser757=) c.1100C= (p.Ser367=) c.1568C= (p.Ser523=) n.2557C= n.2433C= | |
| 15 | g.50997429C>G | CA392419992 | AP4E1 | c.2450C>G (p.Ser817Cys) c.*1574C>G (n.*1574C>G) c.2225C>G (p.Ser742Cys) c.*1494C>G (n.*1494C>G) c.2270C>G (p.Ser757Cys) c.1100C>G (p.Ser367Cys) c.1568C>G (p.Ser523Cys) n.2557C>G n.2433C>G | |
| 15 | g.50997429C>T | CA7559331 | AP4E1 | c.2450C>T (p.Ser817Phe) c.*1574C>T (n.*1574C>T) c.2225C>T (p.Ser742Phe) c.*1494C>T (n.*1494C>T) c.2270C>T (p.Ser757Phe) c.1100C>T (p.Ser367Phe) c.1568C>T (p.Ser523Phe) n.2557C>T n.2433C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50997430C>A | CA490342030 | AP4E1 | c.2451C>A (p.Ser817=) c.*1575C>A (n.*1575C>A) c.2226C>A (p.Ser742=) c.*1495C>A (n.*1495C>A) c.2271C>A (p.Ser757=) c.1101C>A (p.Ser367=) c.1569C>A (p.Ser523=) n.2558C>A n.2434C>A | |
| 15 | g.50997430C>G | CA490342031 | AP4E1 | c.2451C>G (p.Ser817=) c.*1575C>G (n.*1575C>G) c.2226C>G (p.Ser742=) c.*1495C>G (n.*1495C>G) c.2271C>G (p.Ser757=) c.1101C>G (p.Ser367=) c.1569C>G (p.Ser523=) n.2558C>G n.2434C>G | |
| 15 | g.50997430C>T | CA490342032 | AP4E1 | c.2451C>T (p.Ser817=) c.*1575C>T (n.*1575C>T) c.2226C>T (p.Ser742=) c.*1495C>T (n.*1495C>T) c.2271C>T (p.Ser757=) c.1101C>T (p.Ser367=) c.1569C>T (p.Ser523=) n.2558C>T n.2434C>T | |
| 15 | g.50997431T>A | CA392419993 | AP4E1 | c.2452T>A (p.Phe818Ile) c.*1576T>A (n.*1576T>A) c.2227T>A (p.Phe743Ile) c.*1496T>A (n.*1496T>A) c.2272T>A (p.Phe758Ile) c.1102T>A (p.Phe368Ile) c.1570T>A (p.Phe524Ile) n.2559T>A n.2435T>A | |
| 15 | g.50997431T>C | CA392419994 | AP4E1 | c.2452T>C (p.Phe818Leu) c.*1576T>C (n.*1576T>C) c.2227T>C (p.Phe743Leu) c.*1496T>C (n.*1496T>C) c.2272T>C (p.Phe758Leu) c.1102T>C (p.Phe368Leu) c.1570T>C (p.Phe524Leu) n.2559T>C n.2435T>C | |
| 15 | g.50997431T>G | CA392419995 | AP4E1 | c.2452T>G (p.Phe818Val) c.*1576T>G (n.*1576T>G) c.2227T>G (p.Phe743Val) c.*1496T>G (n.*1496T>G) c.2272T>G (p.Phe758Val) c.1102T>G (p.Phe368Val) c.1570T>G (p.Phe524Val) n.2559T>G n.2435T>G | |
| 15 | g.50997432T>A | CA392419996 | AP4E1 | c.2453T>A (p.Phe818Tyr) c.*1577T>A (n.*1577T>A) c.2228T>A (p.Phe743Tyr) c.*1497T>A (n.*1497T>A) c.2273T>A (p.Phe758Tyr) c.1103T>A (p.Phe368Tyr) c.1571T>A (p.Phe524Tyr) n.2560T>A n.2436T>A | |
| 15 | g.50997432T>C | CA392419997 | AP4E1 | c.2453T>C (p.Phe818Ser) c.*1577T>C (n.*1577T>C) c.2228T>C (p.Phe743Ser) c.*1497T>C (n.*1497T>C) c.2273T>C (p.Phe758Ser) c.1103T>C (p.Phe368Ser) c.1571T>C (p.Phe524Ser) n.2560T>C n.2436T>C | |
| 15 | g.50997432T>G | CA392419998 | AP4E1 | c.2453T>G (p.Phe818Cys) c.*1577T>G (n.*1577T>G) c.2228T>G (p.Phe743Cys) c.*1497T>G (n.*1497T>G) c.2273T>G (p.Phe758Cys) c.1103T>G (p.Phe368Cys) c.1571T>G (p.Phe524Cys) n.2560T>G n.2436T>G | |
| 15 | g.50997433T>A | CA392419999 | AP4E1 | c.2454T>A (p.Phe818Leu) c.*1578T>A (n.*1578T>A) c.2229T>A (p.Phe743Leu) c.*1498T>A (n.*1498T>A) c.2274T>A (p.Phe758Leu) c.1104T>A (p.Phe368Leu) c.1572T>A (p.Phe524Leu) n.2561T>A n.2437T>A | COSMIC |
| 15 | g.50997433T>C | CA490342033 | AP4E1 | c.2454T>C (p.Phe818=) c.*1578T>C (n.*1578T>C) c.2229T>C (p.Phe743=) c.*1498T>C (n.*1498T>C) c.2274T>C (p.Phe758=) c.1104T>C (p.Phe368=) c.1572T>C (p.Phe524=) n.2561T>C n.2437T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50997433T>G | CA392420000 | AP4E1 | c.2454T>G (p.Phe818Leu) c.*1578T>G (n.*1578T>G) c.2229T>G (p.Phe743Leu) c.*1498T>G (n.*1498T>G) c.2274T>G (p.Phe758Leu) c.1104T>G (p.Phe368Leu) c.1572T>G (p.Phe524Leu) n.2561T>G n.2437T>G | |
| 15 | g.50997433T= | CA2176672646 | AP4E1 | c.2454T= (p.Phe818=) c.*1578T= (n.*1578T=) c.2229T= (p.Phe743=) c.*1498T= (n.*1498T=) c.2274T= (p.Phe758=) c.1104T= (p.Phe368=) c.1572T= (p.Phe524=) n.2561T= n.2437T= | |
| 15 | g.50997434A= | CA2176672651 | AP4E1 | c.2455A= (p.Ser819=) c.*1579A= (n.*1579A=) c.2230A= (p.Ser744=) c.*1499A= (n.*1499A=) c.2275A= (p.Ser759=) c.1105A= (p.Ser369=) c.1573A= (p.Ser525=) n.2562A= n.2438A= | |
| 15 | g.50997434A>C | CA392420001 | AP4E1 | c.2455A>C (p.Ser819Arg) c.*1579A>C (n.*1579A>C) c.2230A>C (p.Ser744Arg) c.*1499A>C (n.*1499A>C) c.2275A>C (p.Ser759Arg) c.1105A>C (p.Ser369Arg) c.1573A>C (p.Ser525Arg) n.2562A>C n.2438A>C | |
| 15 | g.50997434A>G | CA7559332 | AP4E1 | c.2455A>G (p.Ser819Gly) c.*1579A>G (n.*1579A>G) c.2230A>G (p.Ser744Gly) c.*1499A>G (n.*1499A>G) c.2275A>G (p.Ser759Gly) c.1105A>G (p.Ser369Gly) c.1573A>G (p.Ser525Gly) n.2562A>G n.2438A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50997434A>T | CA392420002 | AP4E1 | c.2455A>T (p.Ser819Cys) c.*1579A>T (n.*1579A>T) c.2230A>T (p.Ser744Cys) c.*1499A>T (n.*1499A>T) c.2275A>T (p.Ser759Cys) c.1105A>T (p.Ser369Cys) c.1573A>T (p.Ser525Cys) n.2562A>T n.2438A>T | |
| 15 | g.50997435G>A | CA270525830 | AP4E1 | c.2456G>A (p.Ser819Asn) c.*1580G>A (n.*1580G>A) c.2231G>A (p.Ser744Asn) c.*1500G>A (n.*1500G>A) c.2276G>A (p.Ser759Asn) c.1106G>A (p.Ser369Asn) c.1574G>A (p.Ser525Asn) n.2563G>A n.2439G>A | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.50997435G>C | CA392420004 | AP4E1 | c.2456G>C (p.Ser819Thr) c.*1580G>C (n.*1580G>C) c.2231G>C (p.Ser744Thr) c.*1500G>C (n.*1500G>C) c.2276G>C (p.Ser759Thr) c.1106G>C (p.Ser369Thr) c.1574G>C (p.Ser525Thr) n.2563G>C n.2439G>C | |
| 15 | g.50997435G= | CA2176672654 | AP4E1 | c.2456G= (p.Ser819=) c.*1580G= (n.*1580G=) c.2231G= (p.Ser744=) c.*1500G= (n.*1500G=) c.2276G= (p.Ser759=) c.1106G= (p.Ser369=) c.1574G= (p.Ser525=) n.2563G= n.2439G= | |
| 15 | g.50997435G>T | CA392420003 | AP4E1 | c.2456G>T (p.Ser819Ile) c.*1580G>T (n.*1580G>T) c.2231G>T (p.Ser744Ile) c.*1500G>T (n.*1500G>T) c.2276G>T (p.Ser759Ile) c.1106G>T (p.Ser369Ile) c.1574G>T (p.Ser525Ile) n.2563G>T n.2439G>T | |
| 15 | g.50997436T>A | CA392420005 | AP4E1 | c.2457T>A (p.Ser819Arg) c.*1581T>A (n.*1581T>A) c.2232T>A (p.Ser744Arg) c.*1501T>A (n.*1501T>A) c.2277T>A (p.Ser759Arg) c.1107T>A (p.Ser369Arg) c.1575T>A (p.Ser525Arg) n.2564T>A n.2440T>A | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.50997436T>C | CA490342034 | AP4E1 | c.2457T>C (p.Ser819=) c.*1581T>C (n.*1581T>C) c.2232T>C (p.Ser744=) c.*1501T>C (n.*1501T>C) c.2277T>C (p.Ser759=) c.1107T>C (p.Ser369=) c.1575T>C (p.Ser525=) n.2564T>C n.2440T>C | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.50997436T>G | CA392420006 | AP4E1 | c.2457T>G (p.Ser819Arg) c.*1581T>G (n.*1581T>G) c.2232T>G (p.Ser744Arg) c.*1501T>G (n.*1501T>G) c.2277T>G (p.Ser759Arg) c.1107T>G (p.Ser369Arg) c.1575T>G (p.Ser525Arg) n.2564T>G n.2440T>G | |
| 15 | g.50997436T= | CA2176672658 | AP4E1 | c.2457T= (p.Ser819=) c.*1581T= (n.*1581T=) c.2232T= (p.Ser744=) c.*1501T= (n.*1501T=) c.2277T= (p.Ser759=) c.1107T= (p.Ser369=) c.1575T= (p.Ser525=) n.2564T= n.2440T= | |
| 15 | g.50997437T>A | CA392420007 | AP4E1 | c.2458T>A (p.Ser820Thr) c.*1582T>A (n.*1582T>A) c.2233T>A (p.Ser745Thr) c.*1502T>A (n.*1502T>A) c.2278T>A (p.Ser760Thr) c.1108T>A (p.Ser370Thr) c.1576T>A (p.Ser526Thr) n.2565T>A n.2441T>A | |
| 15 | g.50997437T>C | CA392420008 | AP4E1 | c.2458T>C (p.Ser820Pro) c.*1582T>C (n.*1582T>C) c.2233T>C (p.Ser745Pro) c.*1502T>C (n.*1502T>C) c.2278T>C (p.Ser760Pro) c.1108T>C (p.Ser370Pro) c.1576T>C (p.Ser526Pro) n.2565T>C n.2441T>C | |
| 15 | g.50997437T>G | CA392420009 | AP4E1 | c.2458T>G (p.Ser820Ala) c.*1582T>G (n.*1582T>G) c.2233T>G (p.Ser745Ala) c.*1502T>G (n.*1502T>G) c.2278T>G (p.Ser760Ala) c.1108T>G (p.Ser370Ala) c.1576T>G (p.Ser526Ala) n.2565T>G n.2441T>G | |
| 15 | g.50997438C>A | CA392420010 | AP4E1 | c.2459C>A (p.Ser820Tyr) c.*1583C>A (n.*1583C>A) c.2234C>A (p.Ser745Tyr) c.*1503C>A (n.*1503C>A) c.2279C>A (p.Ser760Tyr) c.1109C>A (p.Ser370Tyr) c.1577C>A (p.Ser526Tyr) n.2566C>A n.2442C>A | gnomAD v4 |
| 15 | g.50997438C>G | CA392420011 | AP4E1 | c.2459C>G (p.Ser820Cys) c.*1583C>G (n.*1583C>G) c.2234C>G (p.Ser745Cys) c.*1503C>G (n.*1503C>G) c.2279C>G (p.Ser760Cys) c.1109C>G (p.Ser370Cys) c.1577C>G (p.Ser526Cys) n.2566C>G n.2442C>G | |
| 15 | g.50997438C>T | CA392420012 | AP4E1 | c.2459C>T (p.Ser820Phe) c.*1583C>T (n.*1583C>T) c.2234C>T (p.Ser745Phe) c.*1503C>T (n.*1503C>T) c.2279C>T (p.Ser760Phe) c.1109C>T (p.Ser370Phe) c.1577C>T (p.Ser526Phe) n.2566C>T n.2442C>T | |
| 15 | g.50997439T>A | CA490342035 | AP4E1 | c.2460T>A (p.Ser820=) c.*1584T>A (n.*1584T>A) c.2235T>A (p.Ser745=) c.*1504T>A (n.*1504T>A) c.2280T>A (p.Ser760=) c.1110T>A (p.Ser370=) c.1578T>A (p.Ser526=) n.2567T>A n.2443T>A | |
| 15 | g.50997439T>C | CA490342036 | AP4E1 | c.2460T>C (p.Ser820=) c.*1584T>C (n.*1584T>C) c.2235T>C (p.Ser745=) c.*1504T>C (n.*1504T>C) c.2280T>C (p.Ser760=) c.1110T>C (p.Ser370=) c.1578T>C (p.Ser526=) n.2567T>C n.2443T>C | |
| 15 | g.50997439T>G | CA490342037 | AP4E1 | c.2460T>G (p.Ser820=) c.*1584T>G (n.*1584T>G) c.2235T>G (p.Ser745=) c.*1504T>G (n.*1504T>G) c.2280T>G (p.Ser760=) c.1110T>G (p.Ser370=) c.1578T>G (p.Ser526=) n.2567T>G n.2443T>G | |
| 15 | g.50997440T>A | CA392420013 | AP4E1 | c.2461T>A (p.Leu821Met) c.*1585T>A (n.*1585T>A) c.2236T>A (p.Leu746Met) c.*1505T>A (n.*1505T>A) c.2281T>A (p.Leu761Met) c.1111T>A (p.Leu371Met) c.1579T>A (p.Leu527Met) n.2568T>A n.2444T>A | |
| 15 | g.50997440T>C | CA490342038 | AP4E1 | c.2461T>C (p.Leu821=) c.*1585T>C (n.*1585T>C) c.2236T>C (p.Leu746=) c.*1505T>C (n.*1505T>C) c.2281T>C (p.Leu761=) c.1111T>C (p.Leu371=) c.1579T>C (p.Leu527=) n.2568T>C n.2444T>C | |
| 15 | g.50997440T>G | CA270525835 | AP4E1 | c.2461T>G (p.Leu821Val) c.*1585T>G (n.*1585T>G) c.2236T>G (p.Leu746Val) c.*1505T>G (n.*1505T>G) c.2281T>G (p.Leu761Val) c.1111T>G (p.Leu371Val) c.1579T>G (p.Leu527Val) n.2568T>G n.2444T>G | dbSNP |
| 15 | g.50997440T= | CA2176672660 | AP4E1 | c.2461T= (p.Leu821=) c.*1585T= (n.*1585T=) c.2236T= (p.Leu746=) c.*1505T= (n.*1505T=) c.2281T= (p.Leu761=) c.1111T= (p.Leu371=) c.1579T= (p.Leu527=) n.2568T= n.2444T= | |
| 15 | g.50997441T>A | CA392420014 | AP4E1 | c.2462T>A (p.Leu821Ter) c.*1586T>A (n.*1586T>A) c.2237T>A (p.Leu746Ter) c.*1506T>A (n.*1506T>A) c.2282T>A (p.Leu761Ter) c.1112T>A (p.Leu371Ter) c.1580T>A (p.Leu527Ter) n.2569T>A n.2445T>A | |
| 15 | g.50997441T>C | CA392420015 | AP4E1 | c.2462T>C (p.Leu821Ser) c.*1586T>C (n.*1586T>C) c.2237T>C (p.Leu746Ser) c.*1506T>C (n.*1506T>C) c.2282T>C (p.Leu761Ser) c.1112T>C (p.Leu371Ser) c.1580T>C (p.Leu527Ser) n.2569T>C n.2445T>C | |
| 15 | g.50997441T>G | CA392420016 | AP4E1 | c.2462T>G (p.Leu821Trp) c.*1586T>G (n.*1586T>G) c.2237T>G (p.Leu746Trp) c.*1506T>G (n.*1506T>G) c.2282T>G (p.Leu761Trp) c.1112T>G (p.Leu371Trp) c.1580T>G (p.Leu527Trp) n.2569T>G n.2445T>G | |
| 15 | g.50997442G>A | CA490342039 | AP4E1 | c.2463G>A (p.Leu821=) c.*1587G>A (n.*1587G>A) c.2238G>A (p.Leu746=) c.*1507G>A (n.*1507G>A) c.2283G>A (p.Leu761=) c.1113G>A (p.Leu371=) c.1581G>A (p.Leu527=) n.2570G>A n.2446G>A | COSMIC |
| 15 | g.50997442G>C | CA392420018 | AP4E1 | c.2463G>C (p.Leu821Phe) c.*1587G>C (n.*1587G>C) c.2238G>C (p.Leu746Phe) c.*1507G>C (n.*1507G>C) c.2283G>C (p.Leu761Phe) c.1113G>C (p.Leu371Phe) c.1581G>C (p.Leu527Phe) n.2570G>C n.2446G>C | |
| 15 | g.50997442G>T | CA392420017 | AP4E1 | c.2463G>T (p.Leu821Phe) c.*1587G>T (n.*1587G>T) c.2238G>T (p.Leu746Phe) c.*1507G>T (n.*1507G>T) c.2283G>T (p.Leu761Phe) c.1113G>T (p.Leu371Phe) c.1581G>T (p.Leu527Phe) n.2570G>T n.2446G>T | |
| 15 | g.50997443T>A | CA392420019 | AP4E1 | c.2464T>A (p.Ser822Thr) c.*1588T>A (n.*1588T>A) c.2239T>A (p.Ser747Thr) c.*1508T>A (n.*1508T>A) c.2284T>A (p.Ser762Thr) c.1114T>A (p.Ser372Thr) c.1582T>A (p.Ser528Thr) n.2571T>A n.2447T>A | |
| 15 | g.50997443T>C | CA392420020 | AP4E1 | c.2464T>C (p.Ser822Pro) c.*1588T>C (n.*1588T>C) c.2239T>C (p.Ser747Pro) c.*1508T>C (n.*1508T>C) c.2284T>C (p.Ser762Pro) c.1114T>C (p.Ser372Pro) c.1582T>C (p.Ser528Pro) n.2571T>C n.2447T>C | |
| 15 | g.50997443T>G | CA392420021 | AP4E1 | c.2464T>G (p.Ser822Ala) c.*1588T>G (n.*1588T>G) c.2239T>G (p.Ser747Ala) c.*1508T>G (n.*1508T>G) c.2284T>G (p.Ser762Ala) c.1114T>G (p.Ser372Ala) c.1582T>G (p.Ser528Ala) n.2571T>G n.2447T>G | |
| 15 | g.50997444C>A | CA392420022 | AP4E1 | c.2465C>A (p.Ser822Ter) c.*1589C>A (n.*1589C>A) c.2240C>A (p.Ser747Ter) c.*1509C>A (n.*1509C>A) c.2285C>A (p.Ser762Ter) c.1115C>A (p.Ser372Ter) c.1583C>A (p.Ser528Ter) n.2572C>A n.2448C>A | |
| 15 | g.50997444C= | CA2176672662 | AP4E1 | c.2465C= (p.Ser822=) c.*1589C= (n.*1589C=) c.2240C= (p.Ser747=) c.*1509C= (n.*1509C=) c.2285C= (p.Ser762=) c.1115C= (p.Ser372=) c.1583C= (p.Ser528=) n.2572C= n.2448C= | |
| 15 | g.50997444C>G | CA392420023 | AP4E1 | c.2465C>G (p.Ser822Ter) c.*1589C>G (n.*1589C>G) c.2240C>G (p.Ser747Ter) c.*1509C>G (n.*1509C>G) c.2285C>G (p.Ser762Ter) c.1115C>G (p.Ser372Ter) c.1583C>G (p.Ser528Ter) n.2572C>G n.2448C>G | |
| 15 | g.50997444C>T | CA270525839 | AP4E1 | c.2465C>T (p.Ser822Leu) c.*1589C>T (n.*1589C>T) c.2240C>T (p.Ser747Leu) c.*1509C>T (n.*1509C>T) c.2285C>T (p.Ser762Leu) c.1115C>T (p.Ser372Leu) c.1583C>T (p.Ser528Leu) n.2572C>T n.2448C>T | dbSNP |
| 15 | g.50997445A>C | CA490342040 | AP4E1 | c.2466A>C (p.Ser822=) c.*1590A>C (n.*1590A>C) c.2241A>C (p.Ser747=) c.*1510A>C (n.*1510A>C) c.2286A>C (p.Ser762=) c.1116A>C (p.Ser372=) c.1584A>C (p.Ser528=) n.2573A>C n.2449A>C | |
| 15 | g.50997445A>G | CA490342042 | AP4E1 | c.2466A>G (p.Ser822=) c.*1590A>G (n.*1590A>G) c.2241A>G (p.Ser747=) c.*1510A>G (n.*1510A>G) c.2286A>G (p.Ser762=) c.1116A>G (p.Ser372=) c.1584A>G (p.Ser528=) n.2573A>G n.2449A>G | |
| 15 | g.50997445A>T | CA490342041 | AP4E1 | c.2466A>T (p.Ser822=) c.*1590A>T (n.*1590A>T) c.2241A>T (p.Ser747=) c.*1510A>T (n.*1510A>T) c.2286A>T (p.Ser762=) c.1116A>T (p.Ser372=) c.1584A>T (p.Ser528=) n.2573A>T n.2449A>T | |
| 15 | g.50997446A= | CA2176672666 | AP4E1 | c.2467A= (p.Asn823=) c.*1591A= (n.*1591A=) c.2242A= (p.Asn748=) c.*1511A= (n.*1511A=) c.2287A= (p.Asn763=) c.1117A= (p.Asn373=) c.1585A= (p.Asn529=) n.2574A= n.2450A= | |
| 15 | g.50997446A>C | CA392420025 | AP4E1 | c.2467A>C (p.Asn823His) c.*1591A>C (n.*1591A>C) c.2242A>C (p.Asn748His) c.*1511A>C (n.*1511A>C) c.2287A>C (p.Asn763His) c.1117A>C (p.Asn373His) c.1585A>C (p.Asn529His) n.2574A>C n.2450A>C | |
| 15 | g.50997446A>G | CA7559333 | AP4E1 | c.2467A>G (p.Asn823Asp) c.*1591A>G (n.*1591A>G) c.2242A>G (p.Asn748Asp) c.*1511A>G (n.*1511A>G) c.2287A>G (p.Asn763Asp) c.1117A>G (p.Asn373Asp) c.1585A>G (p.Asn529Asp) n.2574A>G n.2450A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.50997446A>T | CA392420024 | AP4E1 | c.2467A>T (p.Asn823Tyr) c.*1591A>T (n.*1591A>T) c.2242A>T (p.Asn748Tyr) c.*1511A>T (n.*1511A>T) c.2287A>T (p.Asn763Tyr) c.1117A>T (p.Asn373Tyr) c.1585A>T (p.Asn529Tyr) n.2574A>T n.2450A>T | |
| 15 | g.50997447A>C | CA392420026 | AP4E1 | c.2468A>C (p.Asn823Thr) c.*1592A>C (n.*1592A>C) c.2243A>C (p.Asn748Thr) c.*1512A>C (n.*1512A>C) c.2288A>C (p.Asn763Thr) c.1118A>C (p.Asn373Thr) c.1586A>C (p.Asn529Thr) n.2575A>C n.2451A>C | |
| 15 | g.50997447A>G | CA392420027 | AP4E1 | c.2468A>G (p.Asn823Ser) c.*1592A>G (n.*1592A>G) c.2243A>G (p.Asn748Ser) c.*1512A>G (n.*1512A>G) c.2288A>G (p.Asn763Ser) c.1118A>G (p.Asn373Ser) c.1586A>G (p.Asn529Ser) n.2575A>G n.2451A>G | dbSNP gnomAD v4 |
| 15 | g.50997447A>T | CA392420028 | AP4E1 | c.2468A>T (p.Asn823Ile) c.*1592A>T (n.*1592A>T) c.2243A>T (p.Asn748Ile) c.*1512A>T (n.*1512A>T) c.2288A>T (p.Asn763Ile) c.1118A>T (p.Asn373Ile) c.1586A>T (p.Asn529Ile) n.2575A>T n.2451A>T | |
| 15 | g.50997448T>A | CA392420029 | AP4E1 | c.2469T>A (p.Asn823Lys) c.*1593T>A (n.*1593T>A) c.2244T>A (p.Asn748Lys) c.*1513T>A (n.*1513T>A) c.2289T>A (p.Asn763Lys) c.1119T>A (p.Asn373Lys) c.1587T>A (p.Asn529Lys) n.2576T>A n.2452T>A | |
| 15 | g.50997448T>C | CA490342043 | AP4E1 | c.2469T>C (p.Asn823=) c.*1593T>C (n.*1593T>C) c.2244T>C (p.Asn748=) c.*1513T>C (n.*1513T>C) c.2289T>C (p.Asn763=) c.1119T>C (p.Asn373=) c.1587T>C (p.Asn529=) n.2576T>C n.2452T>C | dbSNP gnomAD v4 |
| 15 | g.50997448T>G | CA392420030 | AP4E1 | c.2469T>G (p.Asn823Lys) c.*1593T>G (n.*1593T>G) c.2244T>G (p.Asn748Lys) c.*1513T>G (n.*1513T>G) c.2289T>G (p.Asn763Lys) c.1119T>G (p.Asn373Lys) c.1587T>G (p.Asn529Lys) n.2576T>G n.2452T>G | |
| 15 | g.50997448T= | CA2176672670 | AP4E1 | c.2469T= (p.Asn823=) c.*1593T= (n.*1593T=) c.2244T= (p.Asn748=) c.*1513T= (n.*1513T=) c.2289T= (p.Asn763=) c.1119T= (p.Asn373=) c.1587T= (p.Asn529=) n.2576T= n.2452T= | |
| 15 | g.50997449G>A | CA392420033 | AP4E1 | c.2470G>A (p.Val824Met) c.*1594G>A (n.*1594G>A) c.2245G>A (p.Val749Met) c.*1514G>A (n.*1514G>A) c.2290G>A (p.Val764Met) c.1120G>A (p.Val374Met) c.1588G>A (p.Val530Met) n.2577G>A n.2453G>A | ClinVar |
| 15 | g.50997449G>C | CA392420031 | AP4E1 | c.2470G>C (p.Val824Leu) c.*1594G>C (n.*1594G>C) c.2245G>C (p.Val749Leu) c.*1514G>C (n.*1514G>C) c.2290G>C (p.Val764Leu) c.1120G>C (p.Val374Leu) c.1588G>C (p.Val530Leu) n.2577G>C n.2453G>C | |
| 15 | g.50997449G>T | CA392420032 | AP4E1 | c.2470G>T (p.Val824Leu) c.*1594G>T (n.*1594G>T) c.2245G>T (p.Val749Leu) c.*1514G>T (n.*1514G>T) c.2290G>T (p.Val764Leu) c.1120G>T (p.Val374Leu) c.1588G>T (p.Val530Leu) n.2577G>T n.2453G>T | |
| 15 | g.50997450T>A | CA392420034 | AP4E1 | c.2471T>A (p.Val824Glu) c.*1595T>A (n.*1595T>A) c.2246T>A (p.Val749Glu) c.*1515T>A (n.*1515T>A) c.2291T>A (p.Val764Glu) c.1121T>A (p.Val374Glu) c.1589T>A (p.Val530Glu) n.2578T>A n.2454T>A | |
| 15 | g.50997450T>C | CA392420035 | AP4E1 | c.2471T>C (p.Val824Ala) c.*1595T>C (n.*1595T>C) c.2246T>C (p.Val749Ala) c.*1515T>C (n.*1515T>C) c.2291T>C (p.Val764Ala) c.1121T>C (p.Val374Ala) c.1589T>C (p.Val530Ala) n.2578T>C n.2454T>C | |
| 15 | g.50997450T>G | CA392420036 | AP4E1 | c.2471T>G (p.Val824Gly) c.*1595T>G (n.*1595T>G) c.2246T>G (p.Val749Gly) c.*1515T>G (n.*1515T>G) c.2291T>G (p.Val764Gly) c.1121T>G (p.Val374Gly) c.1589T>G (p.Val530Gly) n.2578T>G n.2454T>G | |
| 15 | g.50997451G>A | CA490342046 | AP4E1 | c.2472G>A (p.Val824=) c.*1596G>A (n.*1596G>A) c.2247G>A (p.Val749=) c.*1516G>A (n.*1516G>A) c.2292G>A (p.Val764=) c.1122G>A (p.Val374=) c.1590G>A (p.Val530=) n.2579G>A n.2455G>A | |
| 15 | g.50997451G>C | CA490342045 | AP4E1 | c.2472G>C (p.Val824=) c.*1596G>C (n.*1596G>C) c.2247G>C (p.Val749=) c.*1516G>C (n.*1516G>C) c.2292G>C (p.Val764=) c.1122G>C (p.Val374=) c.1590G>C (p.Val530=) n.2579G>C n.2455G>C | |
| 15 | g.50997451G>T | CA490342044 | AP4E1 | c.2472G>T (p.Val824=) c.*1596G>T (n.*1596G>T) c.2247G>T (p.Val749=) c.*1516G>T (n.*1516G>T) c.2292G>T (p.Val764=) c.1122G>T (p.Val374=) c.1590G>T (p.Val530=) n.2579G>T n.2455G>T | |
| 15 | g.50997452G>A | CA392420037 | AP4E1 | c.2473G>A (p.Ala825Thr) c.*1597G>A (n.*1597G>A) c.2248G>A (p.Ala750Thr) c.*1517G>A (n.*1517G>A) c.2293G>A (p.Ala765Thr) c.1123G>A (p.Ala375Thr) c.1591G>A (p.Ala531Thr) n.2580G>A n.2456G>A | |
| 15 | g.50997452G>C | CA392420038 | AP4E1 | c.2473G>C (p.Ala825Pro) c.*1597G>C (n.*1597G>C) c.2248G>C (p.Ala750Pro) c.*1517G>C (n.*1517G>C) c.2293G>C (p.Ala765Pro) c.1123G>C (p.Ala375Pro) c.1591G>C (p.Ala531Pro) n.2580G>C n.2456G>C | |
| 15 | g.50997452G>T | CA392420039 | AP4E1 | c.2473G>T (p.Ala825Ser) c.*1597G>T (n.*1597G>T) c.2248G>T (p.Ala750Ser) c.*1517G>T (n.*1517G>T) c.2293G>T (p.Ala765Ser) c.1123G>T (p.Ala375Ser) c.1591G>T (p.Ala531Ser) n.2580G>T n.2456G>T | gnomAD v4 |
| 15 | g.50997453C>A | CA392420040 | AP4E1 | c.2474C>A (p.Ala825Glu) c.*1598C>A (n.*1598C>A) c.2249C>A (p.Ala750Glu) c.*1518C>A (n.*1518C>A) c.2294C>A (p.Ala765Glu) c.1124C>A (p.Ala375Glu) c.1592C>A (p.Ala531Glu) n.2581C>A n.2457C>A | |
| 15 | g.50997453C>G | CA392420041 | AP4E1 | c.2474C>G (p.Ala825Gly) c.*1598C>G (n.*1598C>G) c.2249C>G (p.Ala750Gly) c.*1518C>G (n.*1518C>G) c.2294C>G (p.Ala765Gly) c.1124C>G (p.Ala375Gly) c.1592C>G (p.Ala531Gly) n.2581C>G n.2457C>G | |
| 15 | g.50997453C>T | CA392420042 | AP4E1 | c.2474C>T (p.Ala825Val) c.*1598C>T (n.*1598C>T) c.2249C>T (p.Ala750Val) c.*1518C>T (n.*1518C>T) c.2294C>T (p.Ala765Val) c.1124C>T (p.Ala375Val) c.1592C>T (p.Ala531Val) n.2581C>T n.2457C>T | |
| 15 | g.50997454A= | CA2176672673 | AP4E1 | c.2475A= (p.Ala825=) c.*1599A= (n.*1599A=) c.2250A= (p.Ala750=) c.*1519A= (n.*1519A=) c.2295A= (p.Ala765=) c.1125A= (p.Ala375=) c.1593A= (p.Ala531=) n.2582A= n.2458A= | |
| 15 | g.50997454A>C | CA490342047 | AP4E1 | c.2475A>C (p.Ala825=) c.*1599A>C (n.*1599A>C) c.2250A>C (p.Ala750=) c.*1519A>C (n.*1519A>C) c.2295A>C (p.Ala765=) c.1125A>C (p.Ala375=) c.1593A>C (p.Ala531=) n.2582A>C n.2458A>C | |
| 15 | g.50997454A>G | CA490342049 | AP4E1 | c.2475A>G (p.Ala825=) c.*1599A>G (n.*1599A>G) c.2250A>G (p.Ala750=) c.*1519A>G (n.*1519A>G) c.2295A>G (p.Ala765=) c.1125A>G (p.Ala375=) c.1593A>G (p.Ala531=) n.2582A>G n.2458A>G | gnomAD v4 |
| 15 | g.50997454A>T | CA490342048 | AP4E1 | c.2475A>T (p.Ala825=) c.*1599A>T (n.*1599A>T) c.2250A>T (p.Ala750=) c.*1519A>T (n.*1519A>T) c.2295A>T (p.Ala765=) c.1125A>T (p.Ala375=) c.1593A>T (p.Ala531=) n.2582A>T n.2458A>T | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.50997455T>A | CA392420043 | AP4E1 | c.2476T>A (p.Tyr826Asn) c.*1600T>A (n.*1600T>A) c.2251T>A (p.Tyr751Asn) c.*1520T>A (n.*1520T>A) c.2296T>A (p.Tyr766Asn) c.1126T>A (p.Tyr376Asn) c.1594T>A (p.Tyr532Asn) n.2583T>A n.2459T>A | |
| 15 | g.50997455T>C | CA7559334 | AP4E1 | c.2476T>C (p.Tyr826His) c.*1600T>C (n.*1600T>C) c.2251T>C (p.Tyr751His) c.*1520T>C (n.*1520T>C) c.2296T>C (p.Tyr766His) c.1126T>C (p.Tyr376His) c.1594T>C (p.Tyr532His) n.2583T>C n.2459T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.50997455T>G | CA392420044 | AP4E1 | c.2476T>G (p.Tyr826Asp) c.*1600T>G (n.*1600T>G) c.2251T>G (p.Tyr751Asp) c.*1520T>G (n.*1520T>G) c.2296T>G (p.Tyr766Asp) c.1126T>G (p.Tyr376Asp) c.1594T>G (p.Tyr532Asp) n.2583T>G n.2459T>G | |
| 15 | g.50997455T= | CA2176672674 | AP4E1 | c.2476T= (p.Tyr826=) c.*1600T= (n.*1600T=) c.2251T= (p.Tyr751=) c.*1520T= (n.*1520T=) c.2296T= (p.Tyr766=) c.1126T= (p.Tyr376=) c.1594T= (p.Tyr532=) n.2583T= n.2459T= | |
| 15 | g.50997456A= | CA2176672678 | AP4E1 | c.2477A= (p.Tyr826=) c.*1601A= (n.*1601A=) c.2252A= (p.Tyr751=) c.*1521A= (n.*1521A=) c.2297A= (p.Tyr766=) c.1127A= (p.Tyr376=) c.1595A= (p.Tyr532=) n.2584A= n.2460A= | |
| 15 | g.50997456A>C | CA392420045 | AP4E1 | c.2477A>C (p.Tyr826Ser) c.*1601A>C (n.*1601A>C) c.2252A>C (p.Tyr751Ser) c.*1521A>C (n.*1521A>C) c.2297A>C (p.Tyr766Ser) c.1127A>C (p.Tyr376Ser) c.1595A>C (p.Tyr532Ser) n.2584A>C n.2460A>C | |
| 15 | g.50997456A>G | CA392420047 | AP4E1 | c.2477A>G (p.Tyr826Cys) c.*1601A>G (n.*1601A>G) c.2252A>G (p.Tyr751Cys) c.*1521A>G (n.*1521A>G) c.2297A>G (p.Tyr766Cys) c.1127A>G (p.Tyr376Cys) c.1595A>G (p.Tyr532Cys) n.2584A>G n.2460A>G | dbSNP COSMIC |
| 15 | g.50997456A>T | CA392420046 | AP4E1 | c.2477A>T (p.Tyr826Phe) c.*1601A>T (n.*1601A>T) c.2252A>T (p.Tyr751Phe) c.*1521A>T (n.*1521A>T) c.2297A>T (p.Tyr766Phe) c.1127A>T (p.Tyr376Phe) c.1595A>T (p.Tyr532Phe) n.2584A>T n.2460A>T | |
| 15 | g.50997457T>A | CA392420048 | AP4E1 | c.2478T>A (p.Tyr826Ter) c.*1602T>A (n.*1602T>A) c.2253T>A (p.Tyr751Ter) c.*1522T>A (n.*1522T>A) c.2298T>A (p.Tyr766Ter) c.1128T>A (p.Tyr376Ter) c.1596T>A (p.Tyr532Ter) n.2585T>A n.2461T>A | |
| 15 | g.50997457T>C | CA490342050 | AP4E1 | c.2478T>C (p.Tyr826=) c.*1602T>C (n.*1602T>C) c.2253T>C (p.Tyr751=) c.*1522T>C (n.*1522T>C) c.2298T>C (p.Tyr766=) c.1128T>C (p.Tyr376=) c.1596T>C (p.Tyr532=) n.2585T>C n.2461T>C | |
| 15 | g.50997457T>G | CA392420049 | AP4E1 | c.2478T>G (p.Tyr826Ter) c.*1602T>G (n.*1602T>G) c.2253T>G (p.Tyr751Ter) c.*1522T>G (n.*1522T>G) c.2298T>G (p.Tyr766Ter) c.1128T>G (p.Tyr376Ter) c.1596T>G (p.Tyr532Ter) n.2585T>G n.2461T>G | gnomAD v4 |
| 15 | g.50997458G>A | CA392420050 | AP4E1 | c.2479G>A (p.Glu827Lys) c.*1603G>A (n.*1603G>A) c.2254G>A (p.Glu752Lys) c.*1523G>A (n.*1523G>A) c.2299G>A (p.Glu767Lys) c.1129G>A (p.Glu377Lys) c.1597G>A (p.Glu533Lys) n.2586G>A n.2462G>A | dbSNP gnomAD v4 COSMIC |
| 15 | g.50997458G>C | CA392420051 | AP4E1 | c.2479G>C (p.Glu827Gln) c.*1603G>C (n.*1603G>C) c.2254G>C (p.Glu752Gln) c.*1523G>C (n.*1523G>C) c.2299G>C (p.Glu767Gln) c.1129G>C (p.Glu377Gln) c.1597G>C (p.Glu533Gln) n.2586G>C n.2462G>C | |
| 15 | g.50997458G>T | CA392420052 | AP4E1 | c.2479G>T (p.Glu827Ter) c.*1603G>T (n.*1603G>T) c.2254G>T (p.Glu752Ter) c.*1523G>T (n.*1523G>T) c.2299G>T (p.Glu767Ter) c.1129G>T (p.Glu377Ter) c.1597G>T (p.Glu533Ter) n.2586G>T n.2462G>T | |
| 15 | g.50997459A>C | CA392420053 | AP4E1 | c.2480A>C (p.Glu827Ala) c.*1604A>C (n.*1604A>C) c.2255A>C (p.Glu752Ala) c.*1524A>C (n.*1524A>C) c.2300A>C (p.Glu767Ala) c.1130A>C (p.Glu377Ala) c.1598A>C (p.Glu533Ala) n.2587A>C n.2463A>C | |
| 15 | g.50997459A>G | CA392420054 | AP4E1 | c.2480A>G (p.Glu827Gly) c.*1604A>G (n.*1604A>G) c.2255A>G (p.Glu752Gly) c.*1524A>G (n.*1524A>G) c.2300A>G (p.Glu767Gly) c.1130A>G (p.Glu377Gly) c.1598A>G (p.Glu533Gly) n.2587A>G n.2463A>G | |
| 15 | g.50997459A>T | CA392420055 | AP4E1 | c.2480A>T (p.Glu827Val) c.*1604A>T (n.*1604A>T) c.2255A>T (p.Glu752Val) c.*1524A>T (n.*1524A>T) c.2300A>T (p.Glu767Val) c.1130A>T (p.Glu377Val) c.1598A>T (p.Glu533Val) n.2587A>T n.2463A>T | |
| 15 | g.50997460A>C | CA392420056 | AP4E1 | c.2481A>C (p.Glu827Asp) c.*1605A>C (n.*1605A>C) c.2256A>C (p.Glu752Asp) c.*1525A>C (n.*1525A>C) c.2301A>C (p.Glu767Asp) c.1131A>C (p.Glu377Asp) c.1599A>C (p.Glu533Asp) n.2588A>C n.2464A>C | |
| 15 | g.50997460A>G | CA490342051 | AP4E1 | c.2481A>G (p.Glu827=) c.*1605A>G (n.*1605A>G) c.2256A>G (p.Glu752=) c.*1525A>G (n.*1525A>G) c.2301A>G (p.Glu767=) c.1131A>G (p.Glu377=) c.1599A>G (p.Glu533=) n.2588A>G n.2464A>G | |
| 15 | g.50997460A>T | CA392420057 | AP4E1 | c.2481A>T (p.Glu827Asp) c.*1605A>T (n.*1605A>T) c.2256A>T (p.Glu752Asp) c.*1525A>T (n.*1525A>T) c.2301A>T (p.Glu767Asp) c.1131A>T (p.Glu377Asp) c.1599A>T (p.Glu533Asp) n.2588A>T n.2464A>T | |
| 15 | g.50997461G>A | CA392420058 | AP4E1 | c.2482G>A (p.Asp828Asn) c.*1606G>A (n.*1606G>A) c.2257G>A (p.Asp753Asn) c.*1526G>A (n.*1526G>A) c.2302G>A (p.Asp768Asn) c.1132G>A (p.Asp378Asn) c.1600G>A (p.Asp534Asn) n.2589G>A n.2465G>A | |
| 15 | g.50997461G>C | CA392420059 | AP4E1 | c.2482G>C (p.Asp828His) c.*1606G>C (n.*1606G>C) c.2257G>C (p.Asp753His) c.*1526G>C (n.*1526G>C) c.2302G>C (p.Asp768His) c.1132G>C (p.Asp378His) c.1600G>C (p.Asp534His) n.2589G>C n.2465G>C | |
| 15 | g.50997461G>T | CA392420060 | AP4E1 | c.2482G>T (p.Asp828Tyr) c.*1606G>T (n.*1606G>T) c.2257G>T (p.Asp753Tyr) c.*1526G>T (n.*1526G>T) c.2302G>T (p.Asp768Tyr) c.1132G>T (p.Asp378Tyr) c.1600G>T (p.Asp534Tyr) n.2589G>T n.2465G>T | |
| 15 | g.50997462A>C | CA392420063 | AP4E1 | c.2483A>C (p.Asp828Ala) c.*1607A>C (n.*1607A>C) c.2258A>C (p.Asp753Ala) c.*1527A>C (n.*1527A>C) c.2303A>C (p.Asp768Ala) c.1133A>C (p.Asp378Ala) c.1601A>C (p.Asp534Ala) n.2590A>C n.2466A>C | |
| 15 | g.50997462A>G | CA392420062 | AP4E1 | c.2483A>G (p.Asp828Gly) c.*1607A>G (n.*1607A>G) c.2258A>G (p.Asp753Gly) c.*1527A>G (n.*1527A>G) c.2303A>G (p.Asp768Gly) c.1133A>G (p.Asp378Gly) c.1601A>G (p.Asp534Gly) n.2590A>G n.2466A>G | |
| 15 | g.50997462A>T | CA392420061 | AP4E1 | c.2483A>T (p.Asp828Val) c.*1607A>T (n.*1607A>T) c.2258A>T (p.Asp753Val) c.*1527A>T (n.*1527A>T) c.2303A>T (p.Asp768Val) c.1133A>T (p.Asp378Val) c.1601A>T (p.Asp534Val) n.2590A>T n.2466A>T | |
| 15 | g.50997463T>A | CA392420064 | AP4E1 | c.2484T>A (p.Asp828Glu) c.*1608T>A (n.*1608T>A) c.2259T>A (p.Asp753Glu) c.*1528T>A (n.*1528T>A) c.2304T>A (p.Asp768Glu) c.1134T>A (p.Asp378Glu) c.1602T>A (p.Asp534Glu) n.2591T>A n.2467T>A | gnomAD v4 |
| 15 | g.50997463T>C | CA490342052 | AP4E1 | c.2484T>C (p.Asp828=) c.*1608T>C (n.*1608T>C) c.2259T>C (p.Asp753=) c.*1528T>C (n.*1528T>C) c.2304T>C (p.Asp768=) c.1134T>C (p.Asp378=) c.1602T>C (p.Asp534=) n.2591T>C n.2467T>C | |
| 15 | g.50997463T>G | CA392420065 | AP4E1 | c.2484T>G (p.Asp828Glu) c.*1608T>G (n.*1608T>G) c.2259T>G (p.Asp753Glu) c.*1528T>G (n.*1528T>G) c.2304T>G (p.Asp768Glu) c.1134T>G (p.Asp378Glu) c.1602T>G (p.Asp534Glu) n.2591T>G n.2467T>G | |
| 15 | g.50997464G>A | CA392420066 | AP4E1 | c.2485G>A (p.Asp829Asn) c.*1609G>A (n.*1609G>A) c.2260G>A (p.Asp754Asn) c.*1529G>A (n.*1529G>A) c.2305G>A (p.Asp769Asn) c.1135G>A (p.Asp379Asn) c.1603G>A (p.Asp535Asn) n.2592G>A n.2468G>A | dbSNP |
| 15 | g.50997464G>C | CA392420067 | AP4E1 | c.2485G>C (p.Asp829His) c.*1609G>C (n.*1609G>C) c.2260G>C (p.Asp754His) c.*1529G>C (n.*1529G>C) c.2305G>C (p.Asp769His) c.1135G>C (p.Asp379His) c.1603G>C (p.Asp535His) n.2592G>C n.2468G>C | |
| 15 | g.50997464G= | CA2176672683 | AP4E1 | c.2485G= (p.Asp829=) c.*1609G= (n.*1609G=) c.2260G= (p.Asp754=) c.*1529G= (n.*1529G=) c.2305G= (p.Asp769=) c.1135G= (p.Asp379=) c.1603G= (p.Asp535=) n.2592G= n.2468G= | |
| 15 | g.50997464G>T | CA7559335 | AP4E1 | c.2485G>T (p.Asp829Tyr) c.*1609G>T (n.*1609G>T) c.2260G>T (p.Asp754Tyr) c.*1529G>T (n.*1529G>T) c.2305G>T (p.Asp769Tyr) c.1135G>T (p.Asp379Tyr) c.1603G>T (p.Asp535Tyr) n.2592G>T n.2468G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.50997465A>C | CA392420068 | AP4E1 | c.2486A>C (p.Asp829Ala) c.*1610A>C (n.*1610A>C) c.2261A>C (p.Asp754Ala) c.*1530A>C (n.*1530A>C) c.2306A>C (p.Asp769Ala) c.1136A>C (p.Asp379Ala) c.1604A>C (p.Asp535Ala) n.2593A>C n.2469A>C | |
| 15 | g.50997465A>G | CA392420069 | AP4E1 | c.2486A>G (p.Asp829Gly) c.*1610A>G (n.*1610A>G) c.2261A>G (p.Asp754Gly) c.*1530A>G (n.*1530A>G) c.2306A>G (p.Asp769Gly) c.1136A>G (p.Asp379Gly) c.1604A>G (p.Asp535Gly) n.2593A>G n.2469A>G | |
| 15 | g.50997465A>T | CA392420070 | AP4E1 | c.2486A>T (p.Asp829Val) c.*1610A>T (n.*1610A>T) c.2261A>T (p.Asp754Val) c.*1530A>T (n.*1530A>T) c.2306A>T (p.Asp769Val) c.1136A>T (p.Asp379Val) c.1604A>T (p.Asp535Val) n.2593A>T n.2469A>T | |
| 15 | g.50997466T>A | CA392420071 | AP4E1 | c.2487T>A (p.Asp829Glu) c.*1611T>A (n.*1611T>A) c.2262T>A (p.Asp754Glu) c.*1531T>A (n.*1531T>A) c.2307T>A (p.Asp769Glu) c.1137T>A (p.Asp379Glu) c.1605T>A (p.Asp535Glu) n.2594T>A n.2470T>A | |
| 15 | g.50997466T>C | CA490342053 | AP4E1 | c.2487T>C (p.Asp829=) c.*1611T>C (n.*1611T>C) c.2262T>C (p.Asp754=) c.*1531T>C (n.*1531T>C) c.2307T>C (p.Asp769=) c.1137T>C (p.Asp379=) c.1605T>C (p.Asp535=) n.2594T>C n.2470T>C | |
| 15 | g.50997466T>G | CA392420072 | AP4E1 | c.2487T>G (p.Asp829Glu) c.*1611T>G (n.*1611T>G) c.2262T>G (p.Asp754Glu) c.*1531T>G (n.*1531T>G) c.2307T>G (p.Asp769Glu) c.1137T>G (p.Asp379Glu) c.1605T>G (p.Asp535Glu) n.2594T>G n.2470T>G | |
| 15 | g.50997467T>A | CA392420073 | AP4E1 | c.2488T>A (p.Tyr830Asn) c.*1612T>A (n.*1612T>A) c.2263T>A (p.Tyr755Asn) c.*1532T>A (n.*1532T>A) c.2308T>A (p.Tyr770Asn) c.1138T>A (p.Tyr380Asn) c.1606T>A (p.Tyr536Asn) n.2595T>A n.2471T>A | |
| 15 | g.50997467T>C | CA392420074 | AP4E1 | c.2488T>C (p.Tyr830His) c.*1612T>C (n.*1612T>C) c.2263T>C (p.Tyr755His) c.*1532T>C (n.*1532T>C) c.2308T>C (p.Tyr770His) c.1138T>C (p.Tyr380His) c.1606T>C (p.Tyr536His) n.2595T>C n.2471T>C | |
| 15 | g.50997467T>G | CA392420075 | AP4E1 | c.2488T>G (p.Tyr830Asp) c.*1612T>G (n.*1612T>G) c.2263T>G (p.Tyr755Asp) c.*1532T>G (n.*1532T>G) c.2308T>G (p.Tyr770Asp) c.1138T>G (p.Tyr380Asp) c.1606T>G (p.Tyr536Asp) n.2595T>G n.2471T>G | |
| 15 | g.50997468A= | CA2176672686 | AP4E1 | c.2489A= (p.Tyr830=) c.*1613A= (n.*1613A=) c.2264A= (p.Tyr755=) c.*1533A= (n.*1533A=) c.2309A= (p.Tyr770=) c.1139A= (p.Tyr380=) c.1607A= (p.Tyr536=) n.2596A= n.2472A= | |
| 15 | g.50997468A>C | CA392420077 | AP4E1 | c.2489A>C (p.Tyr830Ser) c.*1613A>C (n.*1613A>C) c.2264A>C (p.Tyr755Ser) c.*1533A>C (n.*1533A>C) c.2309A>C (p.Tyr770Ser) c.1139A>C (p.Tyr380Ser) c.1607A>C (p.Tyr536Ser) n.2596A>C n.2472A>C | |
| 15 | g.50997468A>G | CA7559336 | AP4E1 | c.2489A>G (p.Tyr830Cys) c.*1613A>G (n.*1613A>G) c.2264A>G (p.Tyr755Cys) c.*1533A>G (n.*1533A>G) c.2309A>G (p.Tyr770Cys) c.1139A>G (p.Tyr380Cys) c.1607A>G (p.Tyr536Cys) n.2596A>G n.2472A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50997468A>T | CA392420076 | AP4E1 | c.2489A>T (p.Tyr830Phe) c.*1613A>T (n.*1613A>T) c.2264A>T (p.Tyr755Phe) c.*1533A>T (n.*1533A>T) c.2309A>T (p.Tyr770Phe) c.1139A>T (p.Tyr380Phe) c.1607A>T (p.Tyr536Phe) n.2596A>T n.2472A>T | |
| 15 | g.50997469T>A | CA392420078 | AP4E1 | c.2490T>A (p.Tyr830Ter) c.*1614T>A (n.*1614T>A) c.2265T>A (p.Tyr755Ter) c.*1534T>A (n.*1534T>A) c.2310T>A (p.Tyr770Ter) c.1140T>A (p.Tyr380Ter) c.1608T>A (p.Tyr536Ter) n.2597T>A n.2473T>A | |
| 15 | g.50997469T>C | CA490342054 | AP4E1 | c.2490T>C (p.Tyr830=) c.*1614T>C (n.*1614T>C) c.2265T>C (p.Tyr755=) c.*1534T>C (n.*1534T>C) c.2310T>C (p.Tyr770=) c.1140T>C (p.Tyr380=) c.1608T>C (p.Tyr536=) n.2597T>C n.2473T>C | |
| 15 | g.50997469T>G | CA392420079 | AP4E1 | c.2490T>G (p.Tyr830Ter) c.*1614T>G (n.*1614T>G) c.2265T>G (p.Tyr755Ter) c.*1534T>G (n.*1534T>G) c.2310T>G (p.Tyr770Ter) c.1140T>G (p.Tyr380Ter) c.1608T>G (p.Tyr536Ter) n.2597T>G n.2473T>G | |
| 15 | g.50997470T>A | CA392420080 | AP4E1 | c.2491T>A (p.Tyr831Asn) c.*1615T>A (n.*1615T>A) c.2266T>A (p.Tyr756Asn) c.*1535T>A (n.*1535T>A) c.2311T>A (p.Tyr771Asn) c.1141T>A (p.Tyr381Asn) c.1609T>A (p.Tyr537Asn) n.2598T>A n.2474T>A | |
| 15 | g.50997470T>C | CA392420081 | AP4E1 | c.2491T>C (p.Tyr831His) c.*1615T>C (n.*1615T>C) c.2266T>C (p.Tyr756His) c.*1535T>C (n.*1535T>C) c.2311T>C (p.Tyr771His) c.1141T>C (p.Tyr381His) c.1609T>C (p.Tyr537His) n.2598T>C n.2474T>C | |
| 15 | g.50997470T>G | CA392420082 | AP4E1 | c.2491T>G (p.Tyr831Asp) c.*1615T>G (n.*1615T>G) c.2266T>G (p.Tyr756Asp) c.*1535T>G (n.*1535T>G) c.2311T>G (p.Tyr771Asp) c.1141T>G (p.Tyr381Asp) c.1609T>G (p.Tyr537Asp) n.2598T>G n.2474T>G | |
| 15 | g.50997471A= | CA2176672690 | AP4E1 | c.2492A= (p.Tyr831=) c.*1616A= (n.*1616A=) c.2267A= (p.Tyr756=) c.*1536A= (n.*1536A=) c.2312A= (p.Tyr771=) c.1142A= (p.Tyr381=) c.1610A= (p.Tyr537=) n.2599A= n.2475A= | |
| 15 | g.50997471A>C | CA392420083 | AP4E1 | c.2492A>C (p.Tyr831Ser) c.*1616A>C (n.*1616A>C) c.2267A>C (p.Tyr756Ser) c.*1536A>C (n.*1536A>C) c.2312A>C (p.Tyr771Ser) c.1142A>C (p.Tyr381Ser) c.1610A>C (p.Tyr537Ser) n.2599A>C n.2475A>C | |
| 15 | g.50997471A>G | CA392420084 | AP4E1 | c.2492A>G (p.Tyr831Cys) c.*1616A>G (n.*1616A>G) c.2267A>G (p.Tyr756Cys) c.*1536A>G (n.*1536A>G) c.2312A>G (p.Tyr771Cys) c.1142A>G (p.Tyr381Cys) c.1610A>G (p.Tyr537Cys) n.2599A>G n.2475A>G | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.50997471A>T | CA392420085 | AP4E1 | c.2492A>T (p.Tyr831Phe) c.*1616A>T (n.*1616A>T) c.2267A>T (p.Tyr756Phe) c.*1536A>T (n.*1536A>T) c.2312A>T (p.Tyr771Phe) c.1142A>T (p.Tyr381Phe) c.1610A>T (p.Tyr537Phe) n.2599A>T n.2475A>T | |
| 15 | g.50997472T>A | CA392420086 | AP4E1 | c.2493T>A (p.Tyr831Ter) c.*1617T>A (n.*1617T>A) c.2268T>A (p.Tyr756Ter) c.*1537T>A (n.*1537T>A) c.2313T>A (p.Tyr771Ter) c.1143T>A (p.Tyr381Ter) c.1611T>A (p.Tyr537Ter) n.2600T>A n.2476T>A | |
| 15 | g.50997472T>C | CA490342056 | AP4E1 | c.2493T>C (p.Tyr831=) c.*1617T>C (n.*1617T>C) c.2268T>C (p.Tyr756=) c.*1537T>C (n.*1537T>C) c.2313T>C (p.Tyr771=) c.1143T>C (p.Tyr381=) c.1611T>C (p.Tyr537=) n.2600T>C n.2476T>C | |
| 15 | g.50997472T>G | CA392420087 | AP4E1 | c.2493T>G (p.Tyr831Ter) c.*1617T>G (n.*1617T>G) c.2268T>G (p.Tyr756Ter) c.*1537T>G (n.*1537T>G) c.2313T>G (p.Tyr771Ter) c.1143T>G (p.Tyr381Ter) c.1611T>G (p.Tyr537Ter) n.2600T>G n.2476T>G | |
| 15 | g.50997473T>A | CA392420088 | AP4E1 | c.2494T>A (p.Ser832Thr) c.*1618T>A (n.*1618T>A) c.2269T>A (p.Ser757Thr) c.*1538T>A (n.*1538T>A) c.2314T>A (p.Ser772Thr) c.1144T>A (p.Ser382Thr) c.1612T>A (p.Ser538Thr) n.2601T>A n.2477T>A | |
| 15 | g.50997473T>C | CA392420089 | AP4E1 | c.2494T>C (p.Ser832Pro) c.*1618T>C (n.*1618T>C) c.2269T>C (p.Ser757Pro) c.*1538T>C (n.*1538T>C) c.2314T>C (p.Ser772Pro) c.1144T>C (p.Ser382Pro) c.1612T>C (p.Ser538Pro) n.2601T>C n.2477T>C | |
| 15 | g.50997473T>G | CA392420090 | AP4E1 | c.2494T>G (p.Ser832Ala) c.*1618T>G (n.*1618T>G) c.2269T>G (p.Ser757Ala) c.*1538T>G (n.*1538T>G) c.2314T>G (p.Ser772Ala) c.1144T>G (p.Ser382Ala) c.1612T>G (p.Ser538Ala) n.2601T>G n.2477T>G | |
| 15 | g.50997474C>A | CA392420091 | AP4E1 | c.2495C>A (p.Ser832Ter) c.*1619C>A (n.*1619C>A) c.2270C>A (p.Ser757Ter) c.*1539C>A (n.*1539C>A) c.2315C>A (p.Ser772Ter) c.1145C>A (p.Ser382Ter) c.1613C>A (p.Ser538Ter) n.2602C>A n.2478C>A | gnomAD v4 |
| 15 | g.50997474C= | CA2176672696 | AP4E1 | c.2495C= (p.Ser832=) c.*1619C= (n.*1619C=) c.2270C= (p.Ser757=) c.*1539C= (n.*1539C=) c.2315C= (p.Ser772=) c.1145C= (p.Ser382=) c.1613C= (p.Ser538=) n.2602C= n.2478C= | |
| 15 | g.50997474C>G | CA392420092 | AP4E1 | c.2495C>G (p.Ser832Trp) c.*1619C>G (n.*1619C>G) c.2270C>G (p.Ser757Trp) c.*1539C>G (n.*1539C>G) c.2315C>G (p.Ser772Trp) c.1145C>G (p.Ser382Trp) c.1613C>G (p.Ser538Trp) n.2602C>G n.2478C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50997474C>T | CA230881 | AP4E1 | c.2495C>T (p.Ser832Leu) c.*1619C>T (n.*1619C>T) c.2270C>T (p.Ser757Leu) c.*1539C>T (n.*1539C>T) c.2315C>T (p.Ser772Leu) c.1145C>T (p.Ser382Leu) c.1613C>T (p.Ser538Leu) n.2602C>T n.2478C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.50997475G>A | CA270525882 | AP4E1 | c.2496G>A (p.Ser832=) c.*1620G>A (n.*1620G>A) c.2271G>A (p.Ser757=) c.*1540G>A (n.*1540G>A) c.2316G>A (p.Ser772=) c.1146G>A (p.Ser382=) c.1614G>A (p.Ser538=) n.2603G>A n.2479G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50997475G>C | CA7559337 | AP4E1 | c.2496G>C (p.Ser832=) c.*1620G>C (n.*1620G>C) c.2271G>C (p.Ser757=) c.*1540G>C (n.*1540G>C) c.2316G>C (p.Ser772=) c.1146G>C (p.Ser382=) c.1614G>C (p.Ser538=) n.2603G>C n.2479G>C | dbSNP ExAC gnomAD v2 |
| 15 | g.50997475G= | CA2176672704 | AP4E1 | c.2496G= (p.Ser832=) c.*1620G= (n.*1620G=) c.2271G= (p.Ser757=) c.*1540G= (n.*1540G=) c.2316G= (p.Ser772=) c.1146G= (p.Ser382=) c.1614G= (p.Ser538=) n.2603G= n.2479G= | |
| 15 | g.50997475G>T | CA490342057 | AP4E1 | c.2496G>T (p.Ser832=) c.*1620G>T (n.*1620G>T) c.2271G>T (p.Ser757=) c.*1540G>T (n.*1540G>T) c.2316G>T (p.Ser772=) c.1146G>T (p.Ser382=) c.1614G>T (p.Ser538=) n.2603G>T n.2479G>T | gnomAD v4 |
| 15 | g.50997476A>C | CA392420093 | AP4E1 | c.2497A>C (p.Asn833His) c.*1621A>C (n.*1621A>C) c.2272A>C (p.Asn758His) c.*1541A>C (n.*1541A>C) c.2317A>C (p.Asn773His) c.1147A>C (p.Asn383His) c.1615A>C (p.Asn539His) n.2604A>C n.2480A>C | |
| 15 | g.50997476A>G | CA392420094 | AP4E1 | c.2497A>G (p.Asn833Asp) c.*1621A>G (n.*1621A>G) c.2272A>G (p.Asn758Asp) c.*1541A>G (n.*1541A>G) c.2317A>G (p.Asn773Asp) c.1147A>G (p.Asn383Asp) c.1615A>G (p.Asn539Asp) n.2604A>G n.2480A>G | |
| 15 | g.50997476A>T | CA392420095 | AP4E1 | c.2497A>T (p.Asn833Tyr) c.*1621A>T (n.*1621A>T) c.2272A>T (p.Asn758Tyr) c.*1541A>T (n.*1541A>T) c.2317A>T (p.Asn773Tyr) c.1147A>T (p.Asn383Tyr) c.1615A>T (p.Asn539Tyr) n.2604A>T n.2480A>T | |
| 15 | g.50997477A>C | CA392420096 | AP4E1 | c.2498A>C (p.Asn833Thr) c.*1622A>C (n.*1622A>C) c.2273A>C (p.Asn758Thr) c.*1542A>C (n.*1542A>C) c.2318A>C (p.Asn773Thr) c.1148A>C (p.Asn383Thr) c.1616A>C (p.Asn539Thr) n.2605A>C n.2481A>C | gnomAD v4 |
| 15 | g.50997477A>G | CA392420097 | AP4E1 | c.2498A>G (p.Asn833Ser) c.*1622A>G (n.*1622A>G) c.2273A>G (p.Asn758Ser) c.*1542A>G (n.*1542A>G) c.2318A>G (p.Asn773Ser) c.1148A>G (p.Asn383Ser) c.1616A>G (p.Asn539Ser) n.2605A>G n.2481A>G | |
| 15 | g.50997477A>T | CA392420098 | AP4E1 | c.2498A>T (p.Asn833Ile) c.*1622A>T (n.*1622A>T) c.2273A>T (p.Asn758Ile) c.*1542A>T (n.*1542A>T) c.2318A>T (p.Asn773Ile) c.1148A>T (p.Asn383Ile) c.1616A>T (p.Asn539Ile) n.2605A>T n.2481A>T | |
| 15 | g.50997478T>A | CA392420099 | AP4E1 | c.2499T>A (p.Asn833Lys) c.*1623T>A (n.*1623T>A) c.2274T>A (p.Asn758Lys) c.*1543T>A (n.*1543T>A) c.2319T>A (p.Asn773Lys) c.1149T>A (p.Asn383Lys) c.1617T>A (p.Asn539Lys) n.2606T>A n.2482T>A | |
| 15 | g.50997478T>C | CA490342058 | AP4E1 | c.2499T>C (p.Asn833=) c.*1623T>C (n.*1623T>C) c.2274T>C (p.Asn758=) c.*1543T>C (n.*1543T>C) c.2319T>C (p.Asn773=) c.1149T>C (p.Asn383=) c.1617T>C (p.Asn539=) n.2606T>C n.2482T>C | gnomAD v4 |
| 15 | g.50997478T>G | CA392420100 | AP4E1 | c.2499T>G (p.Asn833Lys) c.*1623T>G (n.*1623T>G) c.2274T>G (p.Asn758Lys) c.*1543T>G (n.*1543T>G) c.2319T>G (p.Asn773Lys) c.1149T>G (p.Asn383Lys) c.1617T>G (p.Asn539Lys) n.2606T>G n.2482T>G | |
| 15 | g.50997479A>C | CA392420103 | AP4E1 | c.2500A>C (p.Thr834Pro) c.*1624A>C (n.*1624A>C) c.2275A>C (p.Thr759Pro) c.*1544A>C (n.*1544A>C) c.2320A>C (p.Thr774Pro) c.1150A>C (p.Thr384Pro) c.1618A>C (p.Thr540Pro) n.2607A>C n.2483A>C | |
| 15 | g.50997479A>G | CA392420102 | AP4E1 | c.2500A>G (p.Thr834Ala) c.*1624A>G (n.*1624A>G) c.2275A>G (p.Thr759Ala) c.*1544A>G (n.*1544A>G) c.2320A>G (p.Thr774Ala) c.1150A>G (p.Thr384Ala) c.1618A>G (p.Thr540Ala) n.2607A>G n.2483A>G | |
| 15 | g.50997479A>T | CA392420101 | AP4E1 | c.2500A>T (p.Thr834Ser) c.*1624A>T (n.*1624A>T) c.2275A>T (p.Thr759Ser) c.*1544A>T (n.*1544A>T) c.2320A>T (p.Thr774Ser) c.1150A>T (p.Thr384Ser) c.1618A>T (p.Thr540Ser) n.2607A>T n.2483A>T | |
| 15 | g.50997480C>A | CA392420104 | AP4E1 | c.2501C>A (p.Thr834Asn) c.*1625C>A (n.*1625C>A) c.2276C>A (p.Thr759Asn) c.*1545C>A (n.*1545C>A) c.2321C>A (p.Thr774Asn) c.1151C>A (p.Thr384Asn) c.1619C>A (p.Thr540Asn) n.2608C>A n.2484C>A | |
| 15 | g.50997480C= | CA2176672708 | AP4E1 | c.2501C= (p.Thr834=) c.*1625C= (n.*1625C=) c.2276C= (p.Thr759=) c.*1545C= (n.*1545C=) c.2321C= (p.Thr774=) c.1151C= (p.Thr384=) c.1619C= (p.Thr540=) n.2608C= n.2484C= | |
| 15 | g.50997480C>G | CA392420106 | AP4E1 | c.2501C>G (p.Thr834Ser) c.*1625C>G (n.*1625C>G) c.2276C>G (p.Thr759Ser) c.*1545C>G (n.*1545C>G) c.2321C>G (p.Thr774Ser) c.1151C>G (p.Thr384Ser) c.1619C>G (p.Thr540Ser) n.2608C>G n.2484C>G | |
| 15 | g.50997480C>T | CA392420105 | AP4E1 | c.2501C>T (p.Thr834Ile) c.*1625C>T (n.*1625C>T) c.2276C>T (p.Thr759Ile) c.*1545C>T (n.*1545C>T) c.2321C>T (p.Thr774Ile) c.1151C>T (p.Thr384Ile) c.1619C>T (p.Thr540Ile) n.2608C>T n.2484C>T | dbSNP |
| 15 | g.50997481T>A | CA490342059 | AP4E1 | c.2502T>A (p.Thr834=) c.*1626T>A (n.*1626T>A) c.2277T>A (p.Thr759=) c.*1546T>A (n.*1546T>A) c.2322T>A (p.Thr774=) c.1152T>A (p.Thr384=) c.1620T>A (p.Thr540=) n.2609T>A n.2485T>A | |
| 15 | g.50997481T>C | CA490342060 | AP4E1 | c.2502T>C (p.Thr834=) c.*1626T>C (n.*1626T>C) c.2277T>C (p.Thr759=) c.*1546T>C (n.*1546T>C) c.2322T>C (p.Thr774=) c.1152T>C (p.Thr384=) c.1620T>C (p.Thr540=) n.2609T>C n.2485T>C | |
| 15 | g.50997481T>G | CA490342061 | AP4E1 | c.2502T>G (p.Thr834=) c.*1626T>G (n.*1626T>G) c.2277T>G (p.Thr759=) c.*1546T>G (n.*1546T>G) c.2322T>G (p.Thr774=) c.1152T>G (p.Thr384=) c.1620T>G (p.Thr540=) n.2609T>G n.2485T>G | |
| 15 | g.50997482T>A | CA7559338 | AP4E1 | c.2503T>A (p.Leu835Met) c.*1627T>A (n.*1627T>A) c.2278T>A (p.Leu760Met) c.*1547T>A (n.*1547T>A) c.2323T>A (p.Leu775Met) c.1153T>A (p.Leu385Met) c.1621T>A (p.Leu541Met) n.2610T>A n.2486T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50997482T>C | CA490342062 | AP4E1 | c.2503T>C (p.Leu835=) c.*1627T>C (n.*1627T>C) c.2278T>C (p.Leu760=) c.*1547T>C (n.*1547T>C) c.2323T>C (p.Leu775=) c.1153T>C (p.Leu385=) c.1621T>C (p.Leu541=) n.2610T>C n.2486T>C | |
| 15 | g.50997482T>G | CA392420107 | AP4E1 | c.2503T>G (p.Leu835Val) c.*1627T>G (n.*1627T>G) c.2278T>G (p.Leu760Val) c.*1547T>G (n.*1547T>G) c.2323T>G (p.Leu775Val) c.1153T>G (p.Leu385Val) c.1621T>G (p.Leu541Val) n.2610T>G n.2486T>G | |
| 15 | g.50997482T= | CA2176672711 | AP4E1 | c.2503T= (p.Leu835=) c.*1627T= (n.*1627T=) c.2278T= (p.Leu760=) c.*1547T= (n.*1547T=) c.2323T= (p.Leu775=) c.1153T= (p.Leu385=) c.1621T= (p.Leu541=) n.2610T= n.2486T= | |
| 15 | g.50997483T>A | CA392420108 | AP4E1 | c.2504T>A (p.Leu835Ter) c.*1628T>A (n.*1628T>A) c.2279T>A (p.Leu760Ter) c.*1548T>A (n.*1548T>A) c.2324T>A (p.Leu775Ter) c.1154T>A (p.Leu385Ter) c.1622T>A (p.Leu541Ter) n.2611T>A n.2487T>A | |
| 15 | g.50997483T>C | CA7559339 | AP4E1 | c.2504T>C (p.Leu835Ser) c.*1628T>C (n.*1628T>C) c.2279T>C (p.Leu760Ser) c.*1548T>C (n.*1548T>C) c.2324T>C (p.Leu775Ser) c.1154T>C (p.Leu385Ser) c.1622T>C (p.Leu541Ser) n.2611T>C n.2487T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50997483T>G | CA392420109 | AP4E1 | c.2504T>G (p.Leu835Trp) c.*1628T>G (n.*1628T>G) c.2279T>G (p.Leu760Trp) c.*1548T>G (n.*1548T>G) c.2324T>G (p.Leu775Trp) c.1154T>G (p.Leu385Trp) c.1622T>G (p.Leu541Trp) n.2611T>G n.2487T>G | gnomAD v4 |
| 15 | g.50997483T= | CA2176672713 | AP4E1 | c.2504T= (p.Leu835=) c.*1628T= (n.*1628T=) c.2279T= (p.Leu760=) c.*1548T= (n.*1548T=) c.2324T= (p.Leu775=) c.1154T= (p.Leu385=) c.1622T= (p.Leu541=) n.2611T= n.2487T= | |
| 15 | g.50997484G>A | CA490342063 | AP4E1 | c.2505G>A (p.Leu835=) c.*1629G>A (n.*1629G>A) c.2280G>A (p.Leu760=) c.*1549G>A (n.*1549G>A) c.2325G>A (p.Leu775=) c.1155G>A (p.Leu385=) c.1623G>A (p.Leu541=) n.2612G>A n.2488G>A | |
| 15 | g.50997484G>C | CA392420110 | AP4E1 | c.2505G>C (p.Leu835Phe) c.*1629G>C (n.*1629G>C) c.2280G>C (p.Leu760Phe) c.*1549G>C (n.*1549G>C) c.2325G>C (p.Leu775Phe) c.1155G>C (p.Leu385Phe) c.1623G>C (p.Leu541Phe) n.2612G>C n.2488G>C | |
| 15 | g.50997484G>T | CA392420111 | AP4E1 | c.2505G>T (p.Leu835Phe) c.*1629G>T (n.*1629G>T) c.2280G>T (p.Leu760Phe) c.*1549G>T (n.*1549G>T) c.2325G>T (p.Leu775Phe) c.1155G>T (p.Leu385Phe) c.1623G>T (p.Leu541Phe) n.2612G>T n.2488G>T | |
| 15 | g.50997485C>A | CA392420112 | AP4E1 | c.2506C>A (p.His836Asn) c.*1630C>A (n.*1630C>A) c.2281C>A (p.His761Asn) c.*1550C>A (n.*1550C>A) c.2326C>A (p.His776Asn) c.1156C>A (p.His386Asn) c.1624C>A (p.His542Asn) n.2613C>A n.2489C>A | |
| 15 | g.50997485C>G | CA392420113 | AP4E1 | c.2506C>G (p.His836Asp) c.*1630C>G (n.*1630C>G) c.2281C>G (p.His761Asp) c.*1550C>G (n.*1550C>G) c.2326C>G (p.His776Asp) c.1156C>G (p.His386Asp) c.1624C>G (p.His542Asp) n.2613C>G n.2489C>G | |
| 15 | g.50997485C>T | CA392420114 | AP4E1 | c.2506C>T (p.His836Tyr) c.*1630C>T (n.*1630C>T) c.2281C>T (p.His761Tyr) c.*1550C>T (n.*1550C>T) c.2326C>T (p.His776Tyr) c.1156C>T (p.His386Tyr) c.1624C>T (p.His542Tyr) n.2613C>T n.2489C>T | |
| 15 | g.50997486A= | CA2176672715 | AP4E1 | c.2507A= (p.His836=) c.*1631A= (n.*1631A=) c.2282A= (p.His761=) c.*1551A= (n.*1551A=) c.2327A= (p.His776=) c.1157A= (p.His386=) c.1625A= (p.His542=) n.2614A= n.2490A= | |
| 15 | g.50997486A>C | CA392420115 | AP4E1 | c.2507A>C (p.His836Pro) c.*1631A>C (n.*1631A>C) c.2282A>C (p.His761Pro) c.*1551A>C (n.*1551A>C) c.2327A>C (p.His776Pro) c.1157A>C (p.His386Pro) c.1625A>C (p.His542Pro) n.2614A>C n.2490A>C | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.50997486A>G | CA392420116 | AP4E1 | c.2507A>G (p.His836Arg) c.*1631A>G (n.*1631A>G) c.2282A>G (p.His761Arg) c.*1551A>G (n.*1551A>G) c.2327A>G (p.His776Arg) c.1157A>G (p.His386Arg) c.1625A>G (p.His542Arg) n.2614A>G n.2490A>G | |
| 15 | g.50997486A>T | CA392420117 | AP4E1 | c.2507A>T (p.His836Leu) c.*1631A>T (n.*1631A>T) c.2282A>T (p.His761Leu) c.*1551A>T (n.*1551A>T) c.2327A>T (p.His776Leu) c.1157A>T (p.His386Leu) c.1625A>T (p.His542Leu) n.2614A>T n.2490A>T | |
| 15 | g.50997487C>A | CA392420119 | AP4E1 | c.2508C>A (p.His836Gln) c.*1632C>A (n.*1632C>A) c.2283C>A (p.His761Gln) c.*1552C>A (n.*1552C>A) c.2328C>A (p.His776Gln) c.1158C>A (p.His386Gln) c.1626C>A (p.His542Gln) n.2615C>A n.2491C>A | |
| 15 | g.50997487C= | CA2176672719 | AP4E1 | c.2508C= (p.His836=) c.*1632C= (n.*1632C=) c.2283C= (p.His761=) c.*1552C= (n.*1552C=) c.2328C= (p.His776=) c.1158C= (p.His386=) c.1626C= (p.His542=) n.2615C= n.2491C= | |
| 15 | g.50997487C>G | CA392420118 | AP4E1 | c.2508C>G (p.His836Gln) c.*1632C>G (n.*1632C>G) c.2283C>G (p.His761Gln) c.*1552C>G (n.*1552C>G) c.2328C>G (p.His776Gln) c.1158C>G (p.His386Gln) c.1626C>G (p.His542Gln) n.2615C>G n.2491C>G | |
| 15 | g.50997487C>T | CA7559340 | AP4E1 | c.2508C>T (p.His836=) c.*1632C>T (n.*1632C>T) c.2283C>T (p.His761=) c.*1552C>T (n.*1552C>T) c.2328C>T (p.His776=) c.1158C>T (p.His386=) c.1626C>T (p.His542=) n.2615C>T n.2491C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50997488G>A | CA7559341 | AP4E1 | c.2509G>A (p.Asp837Asn) c.*1633G>A (n.*1633G>A) c.2284G>A (p.Asp762Asn) c.*1553G>A (n.*1553G>A) c.2329G>A (p.Asp777Asn) c.1159G>A (p.Asp387Asn) c.1627G>A (p.Asp543Asn) n.2616G>A n.2492G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50997488G>C | CA392420120 | AP4E1 | c.2509G>C (p.Asp837His) c.*1633G>C (n.*1633G>C) c.2284G>C (p.Asp762His) c.*1553G>C (n.*1553G>C) c.2329G>C (p.Asp777His) c.1159G>C (p.Asp387His) c.1627G>C (p.Asp543His) n.2616G>C n.2492G>C | |
| 15 | g.50997488G= | CA2176672722 | AP4E1 | c.2509G= (p.Asp837=) c.*1633G= (n.*1633G=) c.2284G= (p.Asp762=) c.*1553G= (n.*1553G=) c.2329G= (p.Asp777=) c.1159G= (p.Asp387=) c.1627G= (p.Asp543=) n.2616G= n.2492G= | |
| 15 | g.50997488G>T | CA392420121 | AP4E1 | c.2509G>T (p.Asp837Tyr) c.*1633G>T (n.*1633G>T) c.2284G>T (p.Asp762Tyr) c.*1553G>T (n.*1553G>T) c.2329G>T (p.Asp777Tyr) c.1159G>T (p.Asp387Tyr) c.1627G>T (p.Asp543Tyr) n.2616G>T n.2492G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50997489A>C | CA392420122 | AP4E1 | c.2510A>C (p.Asp837Ala) c.*1634A>C (n.*1634A>C) c.2285A>C (p.Asp762Ala) c.*1554A>C (n.*1554A>C) c.2330A>C (p.Asp777Ala) c.1160A>C (p.Asp387Ala) c.1628A>C (p.Asp543Ala) n.2617A>C n.2493A>C | |
| 15 | g.50997489A>G | CA392420123 | AP4E1 | c.2510A>G (p.Asp837Gly) c.*1634A>G (n.*1634A>G) c.2285A>G (p.Asp762Gly) c.*1554A>G (n.*1554A>G) c.2330A>G (p.Asp777Gly) c.1160A>G (p.Asp387Gly) c.1628A>G (p.Asp543Gly) n.2617A>G n.2493A>G | gnomAD v4 |
| 15 | g.50997489A>T | CA392420124 | AP4E1 | c.2510A>T (p.Asp837Val) c.*1634A>T (n.*1634A>T) c.2285A>T (p.Asp762Val) c.*1554A>T (n.*1554A>T) c.2330A>T (p.Asp777Val) c.1160A>T (p.Asp387Val) c.1628A>T (p.Asp543Val) n.2617A>T n.2493A>T | |
| 15 | g.50997490T>A | CA392420125 | AP4E1 | c.2511T>A (p.Asp837Glu) c.*1635T>A (n.*1635T>A) c.2286T>A (p.Asp762Glu) c.*1555T>A (n.*1555T>A) c.2331T>A (p.Asp777Glu) c.1161T>A (p.Asp387Glu) c.1629T>A (p.Asp543Glu) n.2618T>A n.2494T>A | |
| 15 | g.50997490T>C | CA7559342 | AP4E1 | c.2511T>C (p.Asp837=) c.*1635T>C (n.*1635T>C) c.2286T>C (p.Asp762=) c.*1555T>C (n.*1555T>C) c.2331T>C (p.Asp777=) c.1161T>C (p.Asp387=) c.1629T>C (p.Asp543=) n.2618T>C n.2494T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.50997490T>G | CA392420126 | AP4E1 | c.2511T>G (p.Asp837Glu) c.*1635T>G (n.*1635T>G) c.2286T>G (p.Asp762Glu) c.*1555T>G (n.*1555T>G) c.2331T>G (p.Asp777Glu) c.1161T>G (p.Asp387Glu) c.1629T>G (p.Asp543Glu) n.2618T>G n.2494T>G | |
| 15 | g.50997490T= | CA2176672726 | AP4E1 | c.2511T= (p.Asp837=) c.*1635T= (n.*1635T=) c.2286T= (p.Asp762=) c.*1555T= (n.*1555T=) c.2331T= (p.Asp777=) c.1161T= (p.Asp387=) c.1629T= (p.Asp543=) n.2618T= n.2494T= | |
| 15 | g.50997491A>C | CA392420127 | AP4E1 | c.2512A>C (p.Thr838Pro) c.*1636A>C (n.*1636A>C) c.2287A>C (p.Thr763Pro) c.*1556A>C (n.*1556A>C) c.2332A>C (p.Thr778Pro) c.1162A>C (p.Thr388Pro) c.1630A>C (p.Thr544Pro) n.2619A>C n.2495A>C | |
| 15 | g.50997491A>G | CA392420128 | AP4E1 | c.2512A>G (p.Thr838Ala) c.*1636A>G (n.*1636A>G) c.2287A>G (p.Thr763Ala) c.*1556A>G (n.*1556A>G) c.2332A>G (p.Thr778Ala) c.1162A>G (p.Thr388Ala) c.1630A>G (p.Thr544Ala) n.2619A>G n.2495A>G | gnomAD v4 |
| 15 | g.50997491A>T | CA392420129 | AP4E1 | c.2512A>T (p.Thr838Ser) c.*1636A>T (n.*1636A>T) c.2287A>T (p.Thr763Ser) c.*1556A>T (n.*1556A>T) c.2332A>T (p.Thr778Ser) c.1162A>T (p.Thr388Ser) c.1630A>T (p.Thr544Ser) n.2619A>T n.2495A>T | |
| 15 | g.50997492C>A | CA392420132 | AP4E1 | c.2513C>A (p.Thr838Lys) c.*1637C>A (n.*1637C>A) c.2288C>A (p.Thr763Lys) c.*1557C>A (n.*1557C>A) c.2333C>A (p.Thr778Lys) c.1163C>A (p.Thr388Lys) c.1631C>A (p.Thr544Lys) n.2620C>A n.2496C>A | |
| 15 | g.50997492C>G | CA392420131 | AP4E1 | c.2513C>G (p.Thr838Arg) c.*1637C>G (n.*1637C>G) c.2288C>G (p.Thr763Arg) c.*1557C>G (n.*1557C>G) c.2333C>G (p.Thr778Arg) c.1163C>G (p.Thr388Arg) c.1631C>G (p.Thr544Arg) n.2620C>G n.2496C>G | |
| 15 | g.50997492C>T | CA392420130 | AP4E1 | c.2513C>T (p.Thr838Ile) c.*1637C>T (n.*1637C>T) c.2288C>T (p.Thr763Ile) c.*1557C>T (n.*1557C>T) c.2333C>T (p.Thr778Ile) c.1163C>T (p.Thr388Ile) c.1631C>T (p.Thr544Ile) n.2620C>T n.2496C>T | |
| 15 | g.50997493A>C | CA490342064 | AP4E1 | c.2514A>C (p.Thr838=) c.*1638A>C (n.*1638A>C) c.2289A>C (p.Thr763=) c.*1558A>C (n.*1558A>C) c.2334A>C (p.Thr778=) c.1164A>C (p.Thr388=) c.1632A>C (p.Thr544=) n.2621A>C n.2497A>C | |
| 15 | g.50997493A>G | CA490342065 | AP4E1 | c.2514A>G (p.Thr838=) c.*1638A>G (n.*1638A>G) c.2289A>G (p.Thr763=) c.*1558A>G (n.*1558A>G) c.2334A>G (p.Thr778=) c.1164A>G (p.Thr388=) c.1632A>G (p.Thr544=) n.2621A>G n.2497A>G | |
| 15 | g.50997493A>T | CA490342066 | AP4E1 | c.2514A>T (p.Thr838=) c.*1638A>T (n.*1638A>T) c.2289A>T (p.Thr763=) c.*1558A>T (n.*1558A>T) c.2334A>T (p.Thr778=) c.1164A>T (p.Thr388=) c.1632A>T (p.Thr544=) n.2621A>T n.2497A>T | |
| 15 | g.50997494G>A | CA392420133 | AP4E1 | c.2515G>A (p.Gly839Arg) c.*1639G>A (n.*1639G>A) c.2290G>A (p.Gly764Arg) c.*1559G>A (n.*1559G>A) c.2335G>A (p.Gly779Arg) c.1165G>A (p.Gly389Arg) c.1633G>A (p.Gly545Arg) n.2622G>A n.2498G>A | gnomAD v4 |
| 15 | g.50997494G>C | CA392420134 | AP4E1 | c.2515G>C (p.Gly839Arg) c.*1639G>C (n.*1639G>C) c.2290G>C (p.Gly764Arg) c.*1559G>C (n.*1559G>C) c.2335G>C (p.Gly779Arg) c.1165G>C (p.Gly389Arg) c.1633G>C (p.Gly545Arg) n.2622G>C n.2498G>C | |
| 15 | g.50997494G>T | CA392420135 | AP4E1 | c.2515G>T (p.Gly839Ter) c.*1639G>T (n.*1639G>T) c.2290G>T (p.Gly764Ter) c.*1559G>T (n.*1559G>T) c.2335G>T (p.Gly779Ter) c.1165G>T (p.Gly389Ter) c.1633G>T (p.Gly545Ter) n.2622G>T n.2498G>T | |
| 15 | g.50997495G>A | CA392420136 | AP4E1 | c.2516G>A (p.Gly839Glu) c.*1640G>A (n.*1640G>A) c.2291G>A (p.Gly764Glu) c.*1560G>A (n.*1560G>A) c.2336G>A (p.Gly779Glu) c.1166G>A (p.Gly389Glu) c.1634G>A (p.Gly545Glu) n.2623G>A n.2499G>A | gnomAD v4 |
| 15 | g.50997495G>C | CA392420137 | AP4E1 | c.2516G>C (p.Gly839Ala) c.*1640G>C (n.*1640G>C) c.2291G>C (p.Gly764Ala) c.*1560G>C (n.*1560G>C) c.2336G>C (p.Gly779Ala) c.1166G>C (p.Gly389Ala) c.1634G>C (p.Gly545Ala) n.2623G>C n.2499G>C | gnomAD v4 |
| 15 | g.50997495G>T | CA392420138 | AP4E1 | c.2516G>T (p.Gly839Val) c.*1640G>T (n.*1640G>T) c.2291G>T (p.Gly764Val) c.*1560G>T (n.*1560G>T) c.2336G>T (p.Gly779Val) c.1166G>T (p.Gly389Val) c.1634G>T (p.Gly545Val) n.2623G>T n.2499G>T | |
| 15 | g.50997496A>C | CA490342067 | AP4E1 | c.2517A>C (p.Gly839=) c.*1641A>C (n.*1641A>C) c.2292A>C (p.Gly764=) c.*1561A>C (n.*1561A>C) c.2337A>C (p.Gly779=) c.1167A>C (p.Gly389=) c.1635A>C (p.Gly545=) n.2624A>C n.2500A>C | |
| 15 | g.50997496A>G | CA490342069 | AP4E1 | c.2517A>G (p.Gly839=) c.*1641A>G (n.*1641A>G) c.2292A>G (p.Gly764=) c.*1561A>G (n.*1561A>G) c.2337A>G (p.Gly779=) c.1167A>G (p.Gly389=) c.1635A>G (p.Gly545=) n.2624A>G n.2500A>G | |
| 15 | g.50997496A>T | CA490342068 | AP4E1 | c.2517A>T (p.Gly839=) c.*1641A>T (n.*1641A>T) c.2292A>T (p.Gly764=) c.*1561A>T (n.*1561A>T) c.2337A>T (p.Gly779=) c.1167A>T (p.Gly389=) c.1635A>T (p.Gly545=) n.2624A>T n.2500A>T | |
| 15 | g.50997497G>A | CA392420141 | AP4E1 | c.2518G>A (p.Asp840Asn) c.*1642G>A (n.*1642G>A) c.2293G>A (p.Asp765Asn) c.*1562G>A (n.*1562G>A) c.2338G>A (p.Asp780Asn) c.1168G>A (p.Asp390Asn) c.1636G>A (p.Asp546Asn) n.2625G>A n.2501G>A | dbSNP |
| 15 | g.50997497G>C | CA392420139 | AP4E1 | c.2518G>C (p.Asp840His) c.*1642G>C (n.*1642G>C) c.2293G>C (p.Asp765His) c.*1562G>C (n.*1562G>C) c.2338G>C (p.Asp780His) c.1168G>C (p.Asp390His) c.1636G>C (p.Asp546His) n.2625G>C n.2501G>C | |
| 15 | g.50997497G= | CA2176672728 | AP4E1 | c.2518G= (p.Asp840=) c.*1642G= (n.*1642G=) c.2293G= (p.Asp765=) c.*1562G= (n.*1562G=) c.2338G= (p.Asp780=) c.1168G= (p.Asp390=) c.1636G= (p.Asp546=) n.2625G= n.2501G= | |
| 15 | g.50997497G>T | CA392420140 | AP4E1 | c.2518G>T (p.Asp840Tyr) c.*1642G>T (n.*1642G>T) c.2293G>T (p.Asp765Tyr) c.*1562G>T (n.*1562G>T) c.2338G>T (p.Asp780Tyr) c.1168G>T (p.Asp390Tyr) c.1636G>T (p.Asp546Tyr) n.2625G>T n.2501G>T | |
| 15 | g.50997498A= | CA2176672730 | AP4E1 | c.2519A= (p.Asp840=) c.*1643A= (n.*1643A=) c.2294A= (p.Asp765=) c.*1563A= (n.*1563A=) c.2339A= (p.Asp780=) c.1169A= (p.Asp390=) c.1637A= (p.Asp546=) n.2626A= n.2502A= | |
| 15 | g.50997498A>C | CA392420142 | AP4E1 | c.2519A>C (p.Asp840Ala) c.*1643A>C (n.*1643A>C) c.2294A>C (p.Asp765Ala) c.*1563A>C (n.*1563A>C) c.2339A>C (p.Asp780Ala) c.1169A>C (p.Asp390Ala) c.1637A>C (p.Asp546Ala) n.2626A>C n.2502A>C | |
| 15 | g.50997498A>G | CA392420143 | AP4E1 | c.2519A>G (p.Asp840Gly) c.*1643A>G (n.*1643A>G) c.2294A>G (p.Asp765Gly) c.*1563A>G (n.*1563A>G) c.2339A>G (p.Asp780Gly) c.1169A>G (p.Asp390Gly) c.1637A>G (p.Asp546Gly) n.2626A>G n.2502A>G | dbSNP |
| 15 | g.50997498A>T | CA392420144 | AP4E1 | c.2519A>T (p.Asp840Val) c.*1643A>T (n.*1643A>T) c.2294A>T (p.Asp765Val) c.*1563A>T (n.*1563A>T) c.2339A>T (p.Asp780Val) c.1169A>T (p.Asp390Val) c.1637A>T (p.Asp546Val) n.2626A>T n.2502A>T | gnomAD v4 |
| 15 | g.50997499C>A | CA392420145 | AP4E1 | c.2520C>A (p.Asp840Glu) c.*1644C>A (n.*1644C>A) c.2295C>A (p.Asp765Glu) c.*1564C>A (n.*1564C>A) c.2340C>A (p.Asp780Glu) c.1170C>A (p.Asp390Glu) c.1638C>A (p.Asp546Glu) n.2627C>A n.2503C>A | |
| 15 | g.50997499C= | CA2176672732 | AP4E1 | c.2520C= (p.Asp840=) c.*1644C= (n.*1644C=) c.2295C= (p.Asp765=) c.*1564C= (n.*1564C=) c.2340C= (p.Asp780=) c.1170C= (p.Asp390=) c.1638C= (p.Asp546=) n.2627C= n.2503C= | |
| 15 | g.50997499C>G | CA7559343 | AP4E1 | c.2520C>G (p.Asp840Glu) c.*1644C>G (n.*1644C>G) c.2295C>G (p.Asp765Glu) c.*1564C>G (n.*1564C>G) c.2340C>G (p.Asp780Glu) c.1170C>G (p.Asp390Glu) c.1638C>G (p.Asp546Glu) n.2627C>G n.2503C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50997499C>T | CA490342070 | AP4E1 | c.2520C>T (p.Asp840=) c.*1644C>T (n.*1644C>T) c.2295C>T (p.Asp765=) c.*1564C>T (n.*1564C>T) c.2340C>T (p.Asp780=) c.1170C>T (p.Asp390=) c.1638C>T (p.Asp546=) n.2627C>T n.2503C>T | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.50997500A= | CA2176672735 | AP4E1 | c.2521A= (p.Lys841=) c.*1645A= (n.*1645A=) c.2296A= (p.Lys766=) c.*1565A= (n.*1565A=) c.2341A= (p.Lys781=) c.1171A= (p.Lys391=) c.1639A= (p.Lys547=) n.2628A= n.2504A= | |
| 15 | g.50997500A>C | CA392420146 | AP4E1 | c.2521A>C (p.Lys841Gln) c.*1645A>C (n.*1645A>C) c.2296A>C (p.Lys766Gln) c.*1565A>C (n.*1565A>C) c.2341A>C (p.Lys781Gln) c.1171A>C (p.Lys391Gln) c.1639A>C (p.Lys547Gln) n.2628A>C n.2504A>C | |
| 15 | g.50997500A>G | CA7559344 | AP4E1 | c.2521A>G (p.Lys841Glu) c.*1645A>G (n.*1645A>G) c.2296A>G (p.Lys766Glu) c.*1565A>G (n.*1565A>G) c.2341A>G (p.Lys781Glu) c.1171A>G (p.Lys391Glu) c.1639A>G (p.Lys547Glu) n.2628A>G n.2504A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50997500A>T | CA392420147 | AP4E1 | c.2521A>T (p.Lys841Ter) c.*1645A>T (n.*1645A>T) c.2296A>T (p.Lys766Ter) c.*1565A>T (n.*1565A>T) c.2341A>T (p.Lys781Ter) c.1171A>T (p.Lys391Ter) c.1639A>T (p.Lys547Ter) n.2628A>T n.2504A>T | |
| 15 | g.50997501A>C | CA392420148 | AP4E1 | c.2522A>C (p.Lys841Thr) c.*1646A>C (n.*1646A>C) c.2297A>C (p.Lys766Thr) c.*1566A>C (n.*1566A>C) c.2342A>C (p.Lys781Thr) c.1172A>C (p.Lys391Thr) c.1640A>C (p.Lys547Thr) n.2629A>C n.2505A>C | |
| 15 | g.50997501A>G | CA392420149 | AP4E1 | c.2522A>G (p.Lys841Arg) c.*1646A>G (n.*1646A>G) c.2297A>G (p.Lys766Arg) c.*1566A>G (n.*1566A>G) c.2342A>G (p.Lys781Arg) c.1172A>G (p.Lys391Arg) c.1640A>G (p.Lys547Arg) n.2629A>G n.2505A>G | |
| 15 | g.50997501A>T | CA392420150 | AP4E1 | c.2522A>T (p.Lys841Met) c.*1646A>T (n.*1646A>T) c.2297A>T (p.Lys766Met) c.*1566A>T (n.*1566A>T) c.2342A>T (p.Lys781Met) c.1172A>T (p.Lys391Met) c.1640A>T (p.Lys547Met) n.2629A>T n.2505A>T | |
| 15 | g.50997502G>A | CA490342071 | AP4E1 | c.2523G>A (p.Lys841=) c.*1647G>A (n.*1647G>A) c.2298G>A (p.Lys766=) c.*1567G>A (n.*1567G>A) c.2343G>A (p.Lys781=) c.1173G>A (p.Lys391=) c.1641G>A (p.Lys547=) n.2630G>A n.2506G>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.50997502G>C | CA392420151 | AP4E1 | c.2523G>C (p.Lys841Asn) c.*1647G>C (n.*1647G>C) c.2298G>C (p.Lys766Asn) c.*1567G>C (n.*1567G>C) c.2343G>C (p.Lys781Asn) c.1173G>C (p.Lys391Asn) c.1641G>C (p.Lys547Asn) n.2630G>C n.2506G>C | gnomAD v4 |
| 15 | g.50997502G= | CA2176672737 | AP4E1 | c.2523G= (p.Lys841=) c.*1647G= (n.*1647G=) c.2298G= (p.Lys766=) c.*1567G= (n.*1567G=) c.2343G= (p.Lys781=) c.1173G= (p.Lys391=) c.1641G= (p.Lys547=) n.2630G= n.2506G= | |
| 15 | g.50997502G>T | CA392420152 | AP4E1 | c.2523G>T (p.Lys841Asn) c.*1647G>T (n.*1647G>T) c.2298G>T (p.Lys766Asn) c.*1567G>T (n.*1567G>T) c.2343G>T (p.Lys781Asn) c.1173G>T (p.Lys391Asn) c.1641G>T (p.Lys547Asn) n.2630G>T n.2506G>T |