Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.7209767C>A | CA383738241 | PEX5 | c.1645C>A (p.Leu549Ile) c.1534C>A (p.Leu512Ile) c.1621C>A (p.Leu541Ile) c.1708C>A (p.Leu570Ile) c.1690C>A (p.Leu564Ile) c.1597C>A (p.Leu533Ile) c.1753C>A (p.Leu585Ile) c.1642C>A (p.Leu548Ile) c.1396C>A (p.Leu466Ile) c.1636C>A (p.Leu546Ile) c.1579C>A (p.Leu527Ile) c.1510C>A (p.Leu504Ile) c.2089C>A (p.Leu697Ile) c.1978C>A (p.Leu660Ile) c.1954C>A (p.Leu652Ile) n.2131C>A | |
12 | g.7209767C>G | CA383738244 | PEX5 | c.1645C>G (p.Leu549Val) c.1534C>G (p.Leu512Val) c.1621C>G (p.Leu541Val) c.1708C>G (p.Leu570Val) c.1690C>G (p.Leu564Val) c.1597C>G (p.Leu533Val) c.1753C>G (p.Leu585Val) c.1642C>G (p.Leu548Val) c.1396C>G (p.Leu466Val) c.1636C>G (p.Leu546Val) c.1579C>G (p.Leu527Val) c.1510C>G (p.Leu504Val) c.2089C>G (p.Leu697Val) c.1978C>G (p.Leu660Val) c.1954C>G (p.Leu652Val) n.2131C>G | |
12 | g.7209767C>T | CA383738253 | PEX5 | c.1645C>T (p.Leu549Phe) c.1534C>T (p.Leu512Phe) c.1621C>T (p.Leu541Phe) c.1708C>T (p.Leu570Phe) c.1690C>T (p.Leu564Phe) c.1597C>T (p.Leu533Phe) c.1753C>T (p.Leu585Phe) c.1642C>T (p.Leu548Phe) c.1396C>T (p.Leu466Phe) c.1636C>T (p.Leu546Phe) c.1579C>T (p.Leu527Phe) c.1510C>T (p.Leu504Phe) c.2089C>T (p.Leu697Phe) c.1978C>T (p.Leu660Phe) c.1954C>T (p.Leu652Phe) n.2131C>T | ClinVar |
12 | g.7209768T>A | CA383738257 | PEX5 | c.1646T>A (p.Leu549His) c.1535T>A (p.Leu512His) c.1622T>A (p.Leu541His) c.1709T>A (p.Leu570His) c.1691T>A (p.Leu564His) c.1598T>A (p.Leu533His) c.1754T>A (p.Leu585His) c.1643T>A (p.Leu548His) c.1397T>A (p.Leu466His) c.1637T>A (p.Leu546His) c.1580T>A (p.Leu527His) c.1511T>A (p.Leu504His) c.2090T>A (p.Leu697His) c.1979T>A (p.Leu660His) c.1955T>A (p.Leu652His) n.2132T>A | gnomAD v4 |
12 | g.7209768T>C | CA383738260 | PEX5 | c.1646T>C (p.Leu549Pro) c.1535T>C (p.Leu512Pro) c.1622T>C (p.Leu541Pro) c.1709T>C (p.Leu570Pro) c.1691T>C (p.Leu564Pro) c.1598T>C (p.Leu533Pro) c.1754T>C (p.Leu585Pro) c.1643T>C (p.Leu548Pro) c.1397T>C (p.Leu466Pro) c.1637T>C (p.Leu546Pro) c.1580T>C (p.Leu527Pro) c.1511T>C (p.Leu504Pro) c.2090T>C (p.Leu697Pro) c.1979T>C (p.Leu660Pro) c.1955T>C (p.Leu652Pro) n.2132T>C | |
12 | g.7209768T>G | CA383738263 | PEX5 | c.1646T>G (p.Leu549Arg) c.1535T>G (p.Leu512Arg) c.1622T>G (p.Leu541Arg) c.1709T>G (p.Leu570Arg) c.1691T>G (p.Leu564Arg) c.1598T>G (p.Leu533Arg) c.1754T>G (p.Leu585Arg) c.1643T>G (p.Leu548Arg) c.1397T>G (p.Leu466Arg) c.1637T>G (p.Leu546Arg) c.1580T>G (p.Leu527Arg) c.1511T>G (p.Leu504Arg) c.2090T>G (p.Leu697Arg) c.1979T>G (p.Leu660Arg) c.1955T>G (p.Leu652Arg) n.2132T>G | |
12 | g.7209769C>A | CA478523401 | PEX5 | c.1647C>A (p.Leu549=) c.1536C>A (p.Leu512=) c.1623C>A (p.Leu541=) c.1710C>A (p.Leu570=) c.1692C>A (p.Leu564=) c.1599C>A (p.Leu533=) c.1755C>A (p.Leu585=) c.1644C>A (p.Leu548=) c.1398C>A (p.Leu466=) c.1638C>A (p.Leu546=) c.1581C>A (p.Leu527=) c.1512C>A (p.Leu504=) c.2091C>A (p.Leu697=) c.1980C>A (p.Leu660=) c.1956C>A (p.Leu652=) n.2133C>A | |
12 | g.7209769C= | CA2014448418 | PEX5 | c.1647C= (p.Leu549=) c.1536C= (p.Leu512=) c.1623C= (p.Leu541=) c.1710C= (p.Leu570=) c.1692C= (p.Leu564=) c.1599C= (p.Leu533=) c.1755C= (p.Leu585=) c.1644C= (p.Leu548=) c.1398C= (p.Leu466=) c.1638C= (p.Leu546=) c.1581C= (p.Leu527=) c.1512C= (p.Leu504=) c.2091C= (p.Leu697=) c.1980C= (p.Leu660=) c.1956C= (p.Leu652=) n.2133C= | |
12 | g.7209769C>G | CA10633554 | PEX5 | c.1647C>G (p.Leu549=) c.1536C>G (p.Leu512=) c.1623C>G (p.Leu541=) c.1710C>G (p.Leu570=) c.1692C>G (p.Leu564=) c.1599C>G (p.Leu533=) c.1755C>G (p.Leu585=) c.1644C>G (p.Leu548=) c.1398C>G (p.Leu466=) c.1638C>G (p.Leu546=) c.1581C>G (p.Leu527=) c.1512C>G (p.Leu504=) c.2091C>G (p.Leu697=) c.1980C>G (p.Leu660=) c.1956C>G (p.Leu652=) n.2133C>G | ClinVar dbSNP |
12 | g.7209769C>T | CA6426535 | PEX5 | c.1647C>T (p.Leu549=) c.1536C>T (p.Leu512=) c.1623C>T (p.Leu541=) c.1710C>T (p.Leu570=) c.1692C>T (p.Leu564=) c.1599C>T (p.Leu533=) c.1755C>T (p.Leu585=) c.1644C>T (p.Leu548=) c.1398C>T (p.Leu466=) c.1638C>T (p.Leu546=) c.1581C>T (p.Leu527=) c.1512C>T (p.Leu504=) c.2091C>T (p.Leu697=) c.1980C>T (p.Leu660=) c.1956C>T (p.Leu652=) n.2133C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.7209770G>A | CA383738276 | PEX5 | c.1648G>A (p.Glu550Lys) c.1537G>A (p.Glu513Lys) c.1624G>A (p.Glu542Lys) c.1711G>A (p.Glu571Lys) c.1693G>A (p.Glu565Lys) c.1600G>A (p.Glu534Lys) c.1756G>A (p.Glu586Lys) c.1645G>A (p.Glu549Lys) c.1399G>A (p.Glu467Lys) c.1639G>A (p.Glu547Lys) c.1582G>A (p.Glu528Lys) c.1513G>A (p.Glu505Lys) c.2092G>A (p.Glu698Lys) c.1981G>A (p.Glu661Lys) c.1957G>A (p.Glu653Lys) n.2134G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.7209770G>C | CA383738271 | PEX5 | c.1648G>C (p.Glu550Gln) c.1537G>C (p.Glu513Gln) c.1624G>C (p.Glu542Gln) c.1711G>C (p.Glu571Gln) c.1693G>C (p.Glu565Gln) c.1600G>C (p.Glu534Gln) c.1756G>C (p.Glu586Gln) c.1645G>C (p.Glu549Gln) c.1399G>C (p.Glu467Gln) c.1639G>C (p.Glu547Gln) c.1582G>C (p.Glu528Gln) c.1513G>C (p.Glu505Gln) c.2092G>C (p.Glu698Gln) c.1981G>C (p.Glu661Gln) c.1957G>C (p.Glu653Gln) n.2134G>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.7209770G= | CA2014448419 | PEX5 | c.1648G= (p.Glu550=) c.1537G= (p.Glu513=) c.1624G= (p.Glu542=) c.1711G= (p.Glu571=) c.1693G= (p.Glu565=) c.1600G= (p.Glu534=) c.1756G= (p.Glu586=) c.1645G= (p.Glu549=) c.1399G= (p.Glu467=) c.1639G= (p.Glu547=) c.1582G= (p.Glu528=) c.1513G= (p.Glu505=) c.2092G= (p.Glu698=) c.1981G= (p.Glu661=) c.1957G= (p.Glu653=) n.2134G= | |
12 | g.7209770G>T | CA383738274 | PEX5 | c.1648G>T (p.Glu550Ter) c.1537G>T (p.Glu513Ter) c.1624G>T (p.Glu542Ter) c.1711G>T (p.Glu571Ter) c.1693G>T (p.Glu565Ter) c.1600G>T (p.Glu534Ter) c.1756G>T (p.Glu586Ter) c.1645G>T (p.Glu549Ter) c.1399G>T (p.Glu467Ter) c.1639G>T (p.Glu547Ter) c.1582G>T (p.Glu528Ter) c.1513G>T (p.Glu505Ter) c.2092G>T (p.Glu698Ter) c.1981G>T (p.Glu661Ter) c.1957G>T (p.Glu653Ter) n.2134G>T | |
12 | g.7209771A>C | CA383738280 | PEX5 | c.1649A>C (p.Glu550Ala) c.1538A>C (p.Glu513Ala) c.1625A>C (p.Glu542Ala) c.1712A>C (p.Glu571Ala) c.1694A>C (p.Glu565Ala) c.1601A>C (p.Glu534Ala) c.1757A>C (p.Glu586Ala) c.1646A>C (p.Glu549Ala) c.1400A>C (p.Glu467Ala) c.1640A>C (p.Glu547Ala) c.1583A>C (p.Glu528Ala) c.1514A>C (p.Glu505Ala) c.2093A>C (p.Glu698Ala) c.1982A>C (p.Glu661Ala) c.1958A>C (p.Glu653Ala) n.2135A>C | |
12 | g.7209771A>G | CA383738283 | PEX5 | c.1649A>G (p.Glu550Gly) c.1538A>G (p.Glu513Gly) c.1625A>G (p.Glu542Gly) c.1712A>G (p.Glu571Gly) c.1694A>G (p.Glu565Gly) c.1601A>G (p.Glu534Gly) c.1757A>G (p.Glu586Gly) c.1646A>G (p.Glu549Gly) c.1400A>G (p.Glu467Gly) c.1640A>G (p.Glu547Gly) c.1583A>G (p.Glu528Gly) c.1514A>G (p.Glu505Gly) c.2093A>G (p.Glu698Gly) c.1982A>G (p.Glu661Gly) c.1958A>G (p.Glu653Gly) n.2135A>G | |
12 | g.7209771A>T | CA383738287 | PEX5 | c.1649A>T (p.Glu550Val) c.1538A>T (p.Glu513Val) c.1625A>T (p.Glu542Val) c.1712A>T (p.Glu571Val) c.1694A>T (p.Glu565Val) c.1601A>T (p.Glu534Val) c.1757A>T (p.Glu586Val) c.1646A>T (p.Glu549Val) c.1400A>T (p.Glu467Val) c.1640A>T (p.Glu547Val) c.1583A>T (p.Glu528Val) c.1514A>T (p.Glu505Val) c.2093A>T (p.Glu698Val) c.1982A>T (p.Glu661Val) c.1958A>T (p.Glu653Val) n.2135A>T | |
12 | g.7209772G>A | CA478523403 | PEX5 | c.1650G>A (p.Glu550=) c.1539G>A (p.Glu513=) c.1626G>A (p.Glu542=) c.1713G>A (p.Glu571=) c.1695G>A (p.Glu565=) c.1602G>A (p.Glu534=) c.1758G>A (p.Glu586=) c.1647G>A (p.Glu549=) c.1401G>A (p.Glu467=) c.1641G>A (p.Glu547=) c.1584G>A (p.Glu528=) c.1515G>A (p.Glu505=) c.2094G>A (p.Glu698=) c.1983G>A (p.Glu661=) c.1959G>A (p.Glu653=) n.2136G>A | |
12 | g.7209772G>C | CA383738288 | PEX5 | c.1650G>C (p.Glu550Asp) c.1539G>C (p.Glu513Asp) c.1626G>C (p.Glu542Asp) c.1713G>C (p.Glu571Asp) c.1695G>C (p.Glu565Asp) c.1602G>C (p.Glu534Asp) c.1758G>C (p.Glu586Asp) c.1647G>C (p.Glu549Asp) c.1401G>C (p.Glu467Asp) c.1641G>C (p.Glu547Asp) c.1584G>C (p.Glu528Asp) c.1515G>C (p.Glu505Asp) c.2094G>C (p.Glu698Asp) c.1983G>C (p.Glu661Asp) c.1959G>C (p.Glu653Asp) n.2136G>C | gnomAD v4 |
12 | g.7209772G>T | CA383738289 | PEX5 | c.1650G>T (p.Glu550Asp) c.1539G>T (p.Glu513Asp) c.1626G>T (p.Glu542Asp) c.1713G>T (p.Glu571Asp) c.1695G>T (p.Glu565Asp) c.1602G>T (p.Glu534Asp) c.1758G>T (p.Glu586Asp) c.1647G>T (p.Glu549Asp) c.1401G>T (p.Glu467Asp) c.1641G>T (p.Glu547Asp) c.1584G>T (p.Glu528Asp) c.1515G>T (p.Glu505Asp) c.2094G>T (p.Glu698Asp) c.1983G>T (p.Glu661Asp) c.1959G>T (p.Glu653Asp) n.2136G>T | |
12 | g.7209773C>A | CA383738290 | PEX5 | c.1651C>A (p.Leu551Ile) c.1540C>A (p.Leu514Ile) c.1627C>A (p.Leu543Ile) c.1714C>A (p.Leu572Ile) c.1696C>A (p.Leu566Ile) c.1603C>A (p.Leu535Ile) c.1759C>A (p.Leu587Ile) c.1648C>A (p.Leu550Ile) c.1402C>A (p.Leu468Ile) c.1642C>A (p.Leu548Ile) c.1585C>A (p.Leu529Ile) c.1516C>A (p.Leu506Ile) c.2095C>A (p.Leu699Ile) c.1984C>A (p.Leu662Ile) c.1960C>A (p.Leu654Ile) n.2137C>A | |
12 | g.7209773C>G | CA383738291 | PEX5 | c.1651C>G (p.Leu551Val) c.1540C>G (p.Leu514Val) c.1627C>G (p.Leu543Val) c.1714C>G (p.Leu572Val) c.1696C>G (p.Leu566Val) c.1603C>G (p.Leu535Val) c.1759C>G (p.Leu587Val) c.1648C>G (p.Leu550Val) c.1402C>G (p.Leu468Val) c.1642C>G (p.Leu548Val) c.1585C>G (p.Leu529Val) c.1516C>G (p.Leu506Val) c.2095C>G (p.Leu699Val) c.1984C>G (p.Leu662Val) c.1960C>G (p.Leu654Val) n.2137C>G | |
12 | g.7209773C>T | CA383738293 | PEX5 | c.1651C>T (p.Leu551Phe) c.1540C>T (p.Leu514Phe) c.1627C>T (p.Leu543Phe) c.1714C>T (p.Leu572Phe) c.1696C>T (p.Leu566Phe) c.1603C>T (p.Leu535Phe) c.1759C>T (p.Leu587Phe) c.1648C>T (p.Leu550Phe) c.1402C>T (p.Leu468Phe) c.1642C>T (p.Leu548Phe) c.1585C>T (p.Leu529Phe) c.1516C>T (p.Leu506Phe) c.2095C>T (p.Leu699Phe) c.1984C>T (p.Leu662Phe) c.1960C>T (p.Leu654Phe) n.2137C>T | ClinVar dbSNP |
12 | g.7209774T>A | CA383738298 | PEX5 | c.1652T>A (p.Leu551His) c.1541T>A (p.Leu514His) c.1628T>A (p.Leu543His) c.1715T>A (p.Leu572His) c.1697T>A (p.Leu566His) c.1604T>A (p.Leu535His) c.1760T>A (p.Leu587His) c.1649T>A (p.Leu550His) c.1403T>A (p.Leu468His) c.1643T>A (p.Leu548His) c.1586T>A (p.Leu529His) c.1517T>A (p.Leu506His) c.2096T>A (p.Leu699His) c.1985T>A (p.Leu662His) c.1961T>A (p.Leu654His) n.2138T>A | |
12 | g.7209774T>C | CA383738300 | PEX5 | c.1652T>C (p.Leu551Pro) c.1541T>C (p.Leu514Pro) c.1628T>C (p.Leu543Pro) c.1715T>C (p.Leu572Pro) c.1697T>C (p.Leu566Pro) c.1604T>C (p.Leu535Pro) c.1760T>C (p.Leu587Pro) c.1649T>C (p.Leu550Pro) c.1403T>C (p.Leu468Pro) c.1643T>C (p.Leu548Pro) c.1586T>C (p.Leu529Pro) c.1517T>C (p.Leu506Pro) c.2096T>C (p.Leu699Pro) c.1985T>C (p.Leu662Pro) c.1961T>C (p.Leu654Pro) n.2138T>C | |
12 | g.7209774T>G | CA383738305 | PEX5 | c.1652T>G (p.Leu551Arg) c.1541T>G (p.Leu514Arg) c.1628T>G (p.Leu543Arg) c.1715T>G (p.Leu572Arg) c.1697T>G (p.Leu566Arg) c.1604T>G (p.Leu535Arg) c.1760T>G (p.Leu587Arg) c.1649T>G (p.Leu550Arg) c.1403T>G (p.Leu468Arg) c.1643T>G (p.Leu548Arg) c.1586T>G (p.Leu529Arg) c.1517T>G (p.Leu506Arg) c.2096T>G (p.Leu699Arg) c.1985T>G (p.Leu662Arg) c.1961T>G (p.Leu654Arg) n.2138T>G | |
12 | g.7209775C>A | CA478523404 | PEX5 | c.1653C>A (p.Leu551=) c.1542C>A (p.Leu514=) c.1629C>A (p.Leu543=) c.1716C>A (p.Leu572=) c.1698C>A (p.Leu566=) c.1605C>A (p.Leu535=) c.1761C>A (p.Leu587=) c.1650C>A (p.Leu550=) c.1404C>A (p.Leu468=) c.1644C>A (p.Leu548=) c.1587C>A (p.Leu529=) c.1518C>A (p.Leu506=) c.2097C>A (p.Leu699=) c.1986C>A (p.Leu662=) c.1962C>A (p.Leu654=) n.2139C>A | |
12 | g.7209775C= | CA2014448420 | PEX5 | c.1653C= (p.Leu551=) c.1542C= (p.Leu514=) c.1629C= (p.Leu543=) c.1716C= (p.Leu572=) c.1698C= (p.Leu566=) c.1605C= (p.Leu535=) c.1761C= (p.Leu587=) c.1650C= (p.Leu550=) c.1404C= (p.Leu468=) c.1644C= (p.Leu548=) c.1587C= (p.Leu529=) c.1518C= (p.Leu506=) c.2097C= (p.Leu699=) c.1986C= (p.Leu662=) c.1962C= (p.Leu654=) n.2139C= | |
12 | g.7209775C>G | CA6426536 | PEX5 | c.1653C>G (p.Leu551=) c.1542C>G (p.Leu514=) c.1629C>G (p.Leu543=) c.1716C>G (p.Leu572=) c.1698C>G (p.Leu566=) c.1605C>G (p.Leu535=) c.1761C>G (p.Leu587=) c.1650C>G (p.Leu550=) c.1404C>G (p.Leu468=) c.1644C>G (p.Leu548=) c.1587C>G (p.Leu529=) c.1518C>G (p.Leu506=) c.2097C>G (p.Leu699=) c.1986C>G (p.Leu662=) c.1962C>G (p.Leu654=) n.2139C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.7209775C>T | CA6426537 | PEX5 | c.1653C>T (p.Leu551=) c.1542C>T (p.Leu514=) c.1629C>T (p.Leu543=) c.1716C>T (p.Leu572=) c.1698C>T (p.Leu566=) c.1605C>T (p.Leu535=) c.1761C>T (p.Leu587=) c.1650C>T (p.Leu550=) c.1404C>T (p.Leu468=) c.1644C>T (p.Leu548=) c.1587C>T (p.Leu529=) c.1518C>T (p.Leu506=) c.2097C>T (p.Leu699=) c.1986C>T (p.Leu662=) c.1962C>T (p.Leu654=) n.2139C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.7209776C>A | CA383738319 | PEX5 | c.1654C>A (p.Gln552Lys) c.1543C>A (p.Gln515Lys) c.1630C>A (p.Gln544Lys) c.1717C>A (p.Gln573Lys) c.1699C>A (p.Gln567Lys) c.1606C>A (p.Gln536Lys) c.1762C>A (p.Gln588Lys) c.1651C>A (p.Gln551Lys) c.1405C>A (p.Gln469Lys) c.1645C>A (p.Gln549Lys) c.1588C>A (p.Gln530Lys) c.1519C>A (p.Gln507Lys) c.2098C>A (p.Gln700Lys) c.1987C>A (p.Gln663Lys) c.1963C>A (p.Gln655Lys) n.2140C>A | |
12 | g.7209776C>G | CA383738317 | PEX5 | c.1654C>G (p.Gln552Glu) c.1543C>G (p.Gln515Glu) c.1630C>G (p.Gln544Glu) c.1717C>G (p.Gln573Glu) c.1699C>G (p.Gln567Glu) c.1606C>G (p.Gln536Glu) c.1762C>G (p.Gln588Glu) c.1651C>G (p.Gln551Glu) c.1405C>G (p.Gln469Glu) c.1645C>G (p.Gln549Glu) c.1588C>G (p.Gln530Glu) c.1519C>G (p.Gln507Glu) c.2098C>G (p.Gln700Glu) c.1987C>G (p.Gln663Glu) c.1963C>G (p.Gln655Glu) n.2140C>G | |
12 | g.7209776C>T | CA383738313 | PEX5 | c.1654C>T (p.Gln552Ter) c.1543C>T (p.Gln515Ter) c.1630C>T (p.Gln544Ter) c.1717C>T (p.Gln573Ter) c.1699C>T (p.Gln567Ter) c.1606C>T (p.Gln536Ter) c.1762C>T (p.Gln588Ter) c.1651C>T (p.Gln551Ter) c.1405C>T (p.Gln469Ter) c.1645C>T (p.Gln549Ter) c.1588C>T (p.Gln530Ter) c.1519C>T (p.Gln507Ter) c.2098C>T (p.Gln700Ter) c.1987C>T (p.Gln663Ter) c.1963C>T (p.Gln655Ter) n.2140C>T | |
12 | g.7209777A>C | CA383738324 | PEX5 | c.1655A>C (p.Gln552Pro) c.1544A>C (p.Gln515Pro) c.1631A>C (p.Gln544Pro) c.1718A>C (p.Gln573Pro) c.1700A>C (p.Gln567Pro) c.1607A>C (p.Gln536Pro) c.1763A>C (p.Gln588Pro) c.1652A>C (p.Gln551Pro) c.1406A>C (p.Gln469Pro) c.1646A>C (p.Gln549Pro) c.1589A>C (p.Gln530Pro) c.1520A>C (p.Gln507Pro) c.2099A>C (p.Gln700Pro) c.1988A>C (p.Gln663Pro) c.1964A>C (p.Gln655Pro) n.2141A>C | |
12 | g.7209777A>G | CA383738327 | PEX5 | c.1655A>G (p.Gln552Arg) c.1544A>G (p.Gln515Arg) c.1631A>G (p.Gln544Arg) c.1718A>G (p.Gln573Arg) c.1700A>G (p.Gln567Arg) c.1607A>G (p.Gln536Arg) c.1763A>G (p.Gln588Arg) c.1652A>G (p.Gln551Arg) c.1406A>G (p.Gln469Arg) c.1646A>G (p.Gln549Arg) c.1589A>G (p.Gln530Arg) c.1520A>G (p.Gln507Arg) c.2099A>G (p.Gln700Arg) c.1988A>G (p.Gln663Arg) c.1964A>G (p.Gln655Arg) n.2141A>G | |
12 | g.7209777A>T | CA383738329 | PEX5 | c.1655A>T (p.Gln552Leu) c.1544A>T (p.Gln515Leu) c.1631A>T (p.Gln544Leu) c.1718A>T (p.Gln573Leu) c.1700A>T (p.Gln567Leu) c.1607A>T (p.Gln536Leu) c.1763A>T (p.Gln588Leu) c.1652A>T (p.Gln551Leu) c.1406A>T (p.Gln469Leu) c.1646A>T (p.Gln549Leu) c.1589A>T (p.Gln530Leu) c.1520A>T (p.Gln507Leu) c.2099A>T (p.Gln700Leu) c.1988A>T (p.Gln663Leu) c.1964A>T (p.Gln655Leu) n.2141A>T | |
12 | g.7209778G>A | CA478523407 | PEX5 | c.1656G>A (p.Gln552=) c.1545G>A (p.Gln515=) c.1632G>A (p.Gln544=) c.1719G>A (p.Gln573=) c.1701G>A (p.Gln567=) c.1608G>A (p.Gln536=) c.1764G>A (p.Gln588=) c.1653G>A (p.Gln551=) c.1407G>A (p.Gln469=) c.1647G>A (p.Gln549=) c.1590G>A (p.Gln530=) c.1521G>A (p.Gln507=) c.2100G>A (p.Gln700=) c.1989G>A (p.Gln663=) c.1965G>A (p.Gln655=) n.2142G>A | gnomAD v4 |
12 | g.7209778G>C | CA383738333 | PEX5 | c.1656G>C (p.Gln552His) c.1545G>C (p.Gln515His) c.1632G>C (p.Gln544His) c.1719G>C (p.Gln573His) c.1701G>C (p.Gln567His) c.1608G>C (p.Gln536His) c.1764G>C (p.Gln588His) c.1653G>C (p.Gln551His) c.1407G>C (p.Gln469His) c.1647G>C (p.Gln549His) c.1590G>C (p.Gln530His) c.1521G>C (p.Gln507His) c.2100G>C (p.Gln700His) c.1989G>C (p.Gln663His) c.1965G>C (p.Gln655His) n.2142G>C | |
12 | g.7209778G= | CA2014448421 | PEX5 | c.1656G= (p.Gln552=) c.1545G= (p.Gln515=) c.1632G= (p.Gln544=) c.1719G= (p.Gln573=) c.1701G= (p.Gln567=) c.1608G= (p.Gln536=) c.1764G= (p.Gln588=) c.1653G= (p.Gln551=) c.1407G= (p.Gln469=) c.1647G= (p.Gln549=) c.1590G= (p.Gln530=) c.1521G= (p.Gln507=) c.2100G= (p.Gln700=) c.1989G= (p.Gln663=) c.1965G= (p.Gln655=) n.2142G= | |
12 | g.7209778G>T | CA6426538 | PEX5 | c.1656G>T (p.Gln552His) c.1545G>T (p.Gln515His) c.1632G>T (p.Gln544His) c.1719G>T (p.Gln573His) c.1701G>T (p.Gln567His) c.1608G>T (p.Gln536His) c.1764G>T (p.Gln588His) c.1653G>T (p.Gln551His) c.1407G>T (p.Gln469His) c.1647G>T (p.Gln549His) c.1590G>T (p.Gln530His) c.1521G>T (p.Gln507His) c.2100G>T (p.Gln700His) c.1989G>T (p.Gln663His) c.1965G>T (p.Gln655His) n.2142G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.7209779C>A | CA383738334 | PEX5 | c.1657C>A (p.Pro553Thr) c.1546C>A (p.Pro516Thr) c.1633C>A (p.Pro545Thr) c.1720C>A (p.Pro574Thr) c.1702C>A (p.Pro568Thr) c.1609C>A (p.Pro537Thr) c.1765C>A (p.Pro589Thr) c.1654C>A (p.Pro552Thr) c.1408C>A (p.Pro470Thr) c.1648C>A (p.Pro550Thr) c.1591C>A (p.Pro531Thr) c.1522C>A (p.Pro508Thr) c.2101C>A (p.Pro701Thr) c.1990C>A (p.Pro664Thr) c.1966C>A (p.Pro656Thr) n.2143C>A | |
12 | g.7209779C>G | CA383738335 | PEX5 | c.1657C>G (p.Pro553Ala) c.1546C>G (p.Pro516Ala) c.1633C>G (p.Pro545Ala) c.1720C>G (p.Pro574Ala) c.1702C>G (p.Pro568Ala) c.1609C>G (p.Pro537Ala) c.1765C>G (p.Pro589Ala) c.1654C>G (p.Pro552Ala) c.1408C>G (p.Pro470Ala) c.1648C>G (p.Pro550Ala) c.1591C>G (p.Pro531Ala) c.1522C>G (p.Pro508Ala) c.2101C>G (p.Pro701Ala) c.1990C>G (p.Pro664Ala) c.1966C>G (p.Pro656Ala) n.2143C>G | |
12 | g.7209779C>T | CA383738337 | PEX5 | c.1657C>T (p.Pro553Ser) c.1546C>T (p.Pro516Ser) c.1633C>T (p.Pro545Ser) c.1720C>T (p.Pro574Ser) c.1702C>T (p.Pro568Ser) c.1609C>T (p.Pro537Ser) c.1765C>T (p.Pro589Ser) c.1654C>T (p.Pro552Ser) c.1408C>T (p.Pro470Ser) c.1648C>T (p.Pro550Ser) c.1591C>T (p.Pro531Ser) c.1522C>T (p.Pro508Ser) c.2101C>T (p.Pro701Ser) c.1990C>T (p.Pro664Ser) c.1966C>T (p.Pro656Ser) n.2143C>T | |
12 | g.7209780C>A | CA383738342 | PEX5 | c.1658C>A (p.Pro553His) c.1547C>A (p.Pro516His) c.1634C>A (p.Pro545His) c.1721C>A (p.Pro574His) c.1703C>A (p.Pro568His) c.1610C>A (p.Pro537His) c.1766C>A (p.Pro589His) c.1655C>A (p.Pro552His) c.1409C>A (p.Pro470His) c.1649C>A (p.Pro550His) c.1592C>A (p.Pro531His) c.1523C>A (p.Pro508His) c.2102C>A (p.Pro701His) c.1991C>A (p.Pro664His) c.1967C>A (p.Pro656His) n.2144C>A | |
12 | g.7209780C>G | CA383738345 | PEX5 | c.1658C>G (p.Pro553Arg) c.1547C>G (p.Pro516Arg) c.1634C>G (p.Pro545Arg) c.1721C>G (p.Pro574Arg) c.1703C>G (p.Pro568Arg) c.1610C>G (p.Pro537Arg) c.1766C>G (p.Pro589Arg) c.1655C>G (p.Pro552Arg) c.1409C>G (p.Pro470Arg) c.1649C>G (p.Pro550Arg) c.1592C>G (p.Pro531Arg) c.1523C>G (p.Pro508Arg) c.2102C>G (p.Pro701Arg) c.1991C>G (p.Pro664Arg) c.1967C>G (p.Pro656Arg) n.2144C>G | |
12 | g.7209780C>T | CA383738347 | PEX5 | c.1658C>T (p.Pro553Leu) c.1547C>T (p.Pro516Leu) c.1634C>T (p.Pro545Leu) c.1721C>T (p.Pro574Leu) c.1703C>T (p.Pro568Leu) c.1610C>T (p.Pro537Leu) c.1766C>T (p.Pro589Leu) c.1655C>T (p.Pro552Leu) c.1409C>T (p.Pro470Leu) c.1649C>T (p.Pro550Leu) c.1592C>T (p.Pro531Leu) c.1523C>T (p.Pro508Leu) c.2102C>T (p.Pro701Leu) c.1991C>T (p.Pro664Leu) c.1967C>T (p.Pro656Leu) n.2144C>T | |
12 | g.7209781T>A | CA478523410 | PEX5 | c.1659T>A (p.Pro553=) c.1548T>A (p.Pro516=) c.1635T>A (p.Pro545=) c.1722T>A (p.Pro574=) c.1704T>A (p.Pro568=) c.1611T>A (p.Pro537=) c.1767T>A (p.Pro589=) c.1656T>A (p.Pro552=) c.1410T>A (p.Pro470=) c.1650T>A (p.Pro550=) c.1593T>A (p.Pro531=) c.1524T>A (p.Pro508=) c.2103T>A (p.Pro701=) c.1992T>A (p.Pro664=) c.1968T>A (p.Pro656=) n.2145T>A | |
12 | g.7209781T>C | CA478523411 | PEX5 | c.1659T>C (p.Pro553=) c.1548T>C (p.Pro516=) c.1635T>C (p.Pro545=) c.1722T>C (p.Pro574=) c.1704T>C (p.Pro568=) c.1611T>C (p.Pro537=) c.1767T>C (p.Pro589=) c.1656T>C (p.Pro552=) c.1410T>C (p.Pro470=) c.1650T>C (p.Pro550=) c.1593T>C (p.Pro531=) c.1524T>C (p.Pro508=) c.2103T>C (p.Pro701=) c.1992T>C (p.Pro664=) c.1968T>C (p.Pro656=) n.2145T>C | dbSNP |
12 | g.7209781T>G | CA478523412 | PEX5 | c.1659T>G (p.Pro553=) c.1548T>G (p.Pro516=) c.1635T>G (p.Pro545=) c.1722T>G (p.Pro574=) c.1704T>G (p.Pro568=) c.1611T>G (p.Pro537=) c.1767T>G (p.Pro589=) c.1656T>G (p.Pro552=) c.1410T>G (p.Pro470=) c.1650T>G (p.Pro550=) c.1593T>G (p.Pro531=) c.1524T>G (p.Pro508=) c.2103T>G (p.Pro701=) c.1992T>G (p.Pro664=) c.1968T>G (p.Pro656=) n.2145T>G | |
12 | g.7209781T= | CA2014448422 | PEX5 | c.1659T= (p.Pro553=) c.1548T= (p.Pro516=) c.1635T= (p.Pro545=) c.1722T= (p.Pro574=) c.1704T= (p.Pro568=) c.1611T= (p.Pro537=) c.1767T= (p.Pro589=) c.1656T= (p.Pro552=) c.1410T= (p.Pro470=) c.1650T= (p.Pro550=) c.1593T= (p.Pro531=) c.1524T= (p.Pro508=) c.2103T= (p.Pro701=) c.1992T= (p.Pro664=) c.1968T= (p.Pro656=) n.2145T= | |
12 | g.7209782G>A | CA383738352 | PEX5 | c.1660G>A (p.Gly554Ser) c.1549G>A (p.Gly517Ser) c.1636G>A (p.Gly546Ser) c.1723G>A (p.Gly575Ser) c.1705G>A (p.Gly569Ser) c.1612G>A (p.Gly538Ser) c.1768G>A (p.Gly590Ser) c.1657G>A (p.Gly553Ser) c.1411G>A (p.Gly471Ser) c.1651G>A (p.Gly551Ser) c.1594G>A (p.Gly532Ser) c.1525G>A (p.Gly509Ser) c.2104G>A (p.Gly702Ser) c.1993G>A (p.Gly665Ser) c.1969G>A (p.Gly657Ser) n.2146G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.7209782G>C | CA383738355 | PEX5 | c.1660G>C (p.Gly554Arg) c.1549G>C (p.Gly517Arg) c.1636G>C (p.Gly546Arg) c.1723G>C (p.Gly575Arg) c.1705G>C (p.Gly569Arg) c.1612G>C (p.Gly538Arg) c.1768G>C (p.Gly590Arg) c.1657G>C (p.Gly553Arg) c.1411G>C (p.Gly471Arg) c.1651G>C (p.Gly551Arg) c.1594G>C (p.Gly532Arg) c.1525G>C (p.Gly509Arg) c.2104G>C (p.Gly702Arg) c.1993G>C (p.Gly665Arg) c.1969G>C (p.Gly657Arg) n.2146G>C | |
12 | g.7209782G= | CA2014448423 | PEX5 | c.1660G= (p.Gly554=) c.1549G= (p.Gly517=) c.1636G= (p.Gly546=) c.1723G= (p.Gly575=) c.1705G= (p.Gly569=) c.1612G= (p.Gly538=) c.1768G= (p.Gly590=) c.1657G= (p.Gly553=) c.1411G= (p.Gly471=) c.1651G= (p.Gly551=) c.1594G= (p.Gly532=) c.1525G= (p.Gly509=) c.2104G= (p.Gly702=) c.1993G= (p.Gly665=) c.1969G= (p.Gly657=) n.2146G= | |
12 | g.7209782G>T | CA383738357 | PEX5 | c.1660G>T (p.Gly554Cys) c.1549G>T (p.Gly517Cys) c.1636G>T (p.Gly546Cys) c.1723G>T (p.Gly575Cys) c.1705G>T (p.Gly569Cys) c.1612G>T (p.Gly538Cys) c.1768G>T (p.Gly590Cys) c.1657G>T (p.Gly553Cys) c.1411G>T (p.Gly471Cys) c.1651G>T (p.Gly551Cys) c.1594G>T (p.Gly532Cys) c.1525G>T (p.Gly509Cys) c.2104G>T (p.Gly702Cys) c.1993G>T (p.Gly665Cys) c.1969G>T (p.Gly657Cys) n.2146G>T | |
12 | g.7209783G>A | CA383738366 | PEX5 | c.1661G>A (p.Gly554Asp) c.1550G>A (p.Gly517Asp) c.1637G>A (p.Gly546Asp) c.1724G>A (p.Gly575Asp) c.1706G>A (p.Gly569Asp) c.1613G>A (p.Gly538Asp) c.1769G>A (p.Gly590Asp) c.1658G>A (p.Gly553Asp) c.1412G>A (p.Gly471Asp) c.1652G>A (p.Gly551Asp) c.1595G>A (p.Gly532Asp) c.1526G>A (p.Gly509Asp) c.2105G>A (p.Gly702Asp) c.1994G>A (p.Gly665Asp) c.1970G>A (p.Gly657Asp) n.2147G>A | |
12 | g.7209783G>C | CA383738364 | PEX5 | c.1661G>C (p.Gly554Ala) c.1550G>C (p.Gly517Ala) c.1637G>C (p.Gly546Ala) c.1724G>C (p.Gly575Ala) c.1706G>C (p.Gly569Ala) c.1613G>C (p.Gly538Ala) c.1769G>C (p.Gly590Ala) c.1658G>C (p.Gly553Ala) c.1412G>C (p.Gly471Ala) c.1652G>C (p.Gly551Ala) c.1595G>C (p.Gly532Ala) c.1526G>C (p.Gly509Ala) c.2105G>C (p.Gly702Ala) c.1994G>C (p.Gly665Ala) c.1970G>C (p.Gly657Ala) n.2147G>C | |
12 | g.7209783G>T | CA383738361 | PEX5 | c.1661G>T (p.Gly554Val) c.1550G>T (p.Gly517Val) c.1637G>T (p.Gly546Val) c.1724G>T (p.Gly575Val) c.1706G>T (p.Gly569Val) c.1613G>T (p.Gly538Val) c.1769G>T (p.Gly590Val) c.1658G>T (p.Gly553Val) c.1412G>T (p.Gly471Val) c.1652G>T (p.Gly551Val) c.1595G>T (p.Gly532Val) c.1526G>T (p.Gly509Val) c.2105G>T (p.Gly702Val) c.1994G>T (p.Gly665Val) c.1970G>T (p.Gly657Val) n.2147G>T | |
12 | g.7209784C>A | CA478523413 | PEX5 | c.1662C>A (p.Gly554=) c.1551C>A (p.Gly517=) c.1638C>A (p.Gly546=) c.1725C>A (p.Gly575=) c.1707C>A (p.Gly569=) c.1614C>A (p.Gly538=) c.1770C>A (p.Gly590=) c.1659C>A (p.Gly553=) c.1413C>A (p.Gly471=) c.1653C>A (p.Gly551=) c.1596C>A (p.Gly532=) c.1527C>A (p.Gly509=) c.2106C>A (p.Gly702=) c.1995C>A (p.Gly665=) c.1971C>A (p.Gly657=) n.2148C>A | |
12 | g.7209784C= | CA2014448424 | PEX5 | c.1662C= (p.Gly554=) c.1551C= (p.Gly517=) c.1638C= (p.Gly546=) c.1725C= (p.Gly575=) c.1707C= (p.Gly569=) c.1614C= (p.Gly538=) c.1770C= (p.Gly590=) c.1659C= (p.Gly553=) c.1413C= (p.Gly471=) c.1653C= (p.Gly551=) c.1596C= (p.Gly532=) c.1527C= (p.Gly509=) c.2106C= (p.Gly702=) c.1995C= (p.Gly665=) c.1971C= (p.Gly657=) n.2148C= | |
12 | g.7209784C>G | CA6426539 | PEX5 | c.1662C>G (p.Gly554=) c.1551C>G (p.Gly517=) c.1638C>G (p.Gly546=) c.1725C>G (p.Gly575=) c.1707C>G (p.Gly569=) c.1614C>G (p.Gly538=) c.1770C>G (p.Gly590=) c.1659C>G (p.Gly553=) c.1413C>G (p.Gly471=) c.1653C>G (p.Gly551=) c.1596C>G (p.Gly532=) c.1527C>G (p.Gly509=) c.2106C>G (p.Gly702=) c.1995C>G (p.Gly665=) c.1971C>G (p.Gly657=) n.2148C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.7209784C>T | CA478523415 | PEX5 | c.1662C>T (p.Gly554=) c.1551C>T (p.Gly517=) c.1638C>T (p.Gly546=) c.1725C>T (p.Gly575=) c.1707C>T (p.Gly569=) c.1614C>T (p.Gly538=) c.1770C>T (p.Gly590=) c.1659C>T (p.Gly553=) c.1413C>T (p.Gly471=) c.1653C>T (p.Gly551=) c.1596C>T (p.Gly532=) c.1527C>T (p.Gly509=) c.2106C>T (p.Gly702=) c.1995C>T (p.Gly665=) c.1971C>T (p.Gly657=) n.2148C>T | gnomAD v4 |
12 | g.7209785del | CA2617416646 | PEX5 | c.1663del (p.Tyr555IlefsTer29) c.1552del (p.Tyr518IlefsTer29) c.1639del (p.Tyr547IlefsTer29) c.1726del (p.Tyr576IlefsTer29) c.1708del (p.Tyr570IlefsTer29) c.1615del (p.Tyr539IlefsTer29) c.1771del (p.Tyr591IlefsTer29) c.1660del (p.Tyr554IlefsTer29) c.1414del (p.Tyr472IlefsTer29) c.1654del (p.Tyr552IlefsTer29) c.1597del (p.Tyr533IlefsTer29) c.1528del (p.Tyr510IlefsTer29) c.2107del (p.Tyr703IlefsTer29) c.1996del (p.Tyr666IlefsTer29) c.1972del (p.Tyr658IlefsTer29) n.2149del | gnomAD v4 |
12 | g.7209785T>A | CA383738373 | PEX5 | c.1663T>A (p.Tyr555Asn) c.1552T>A (p.Tyr518Asn) c.1639T>A (p.Tyr547Asn) c.1726T>A (p.Tyr576Asn) c.1708T>A (p.Tyr570Asn) c.1615T>A (p.Tyr539Asn) c.1771T>A (p.Tyr591Asn) c.1660T>A (p.Tyr554Asn) c.1414T>A (p.Tyr472Asn) c.1654T>A (p.Tyr552Asn) c.1597T>A (p.Tyr533Asn) c.1528T>A (p.Tyr510Asn) c.2107T>A (p.Tyr703Asn) c.1996T>A (p.Tyr666Asn) c.1972T>A (p.Tyr658Asn) n.2149T>A | |
12 | g.7209785T>C | CA383738376 | PEX5 | c.1663T>C (p.Tyr555His) c.1552T>C (p.Tyr518His) c.1639T>C (p.Tyr547His) c.1726T>C (p.Tyr576His) c.1708T>C (p.Tyr570His) c.1615T>C (p.Tyr539His) c.1771T>C (p.Tyr591His) c.1660T>C (p.Tyr554His) c.1414T>C (p.Tyr472His) c.1654T>C (p.Tyr552His) c.1597T>C (p.Tyr533His) c.1528T>C (p.Tyr510His) c.2107T>C (p.Tyr703His) c.1996T>C (p.Tyr666His) c.1972T>C (p.Tyr658His) n.2149T>C | |
12 | g.7209785T>G | CA383738379 | PEX5 | c.1663T>G (p.Tyr555Asp) c.1552T>G (p.Tyr518Asp) c.1639T>G (p.Tyr547Asp) c.1726T>G (p.Tyr576Asp) c.1708T>G (p.Tyr570Asp) c.1615T>G (p.Tyr539Asp) c.1771T>G (p.Tyr591Asp) c.1660T>G (p.Tyr554Asp) c.1414T>G (p.Tyr472Asp) c.1654T>G (p.Tyr552Asp) c.1597T>G (p.Tyr533Asp) c.1528T>G (p.Tyr510Asp) c.2107T>G (p.Tyr703Asp) c.1996T>G (p.Tyr666Asp) c.1972T>G (p.Tyr658Asp) n.2149T>G | |
12 | g.7209786A= | CA2014448425 | PEX5 | c.1664A= (p.Tyr555=) c.1553A= (p.Tyr518=) c.1640A= (p.Tyr547=) c.1727A= (p.Tyr576=) c.1709A= (p.Tyr570=) c.1616A= (p.Tyr539=) c.1772A= (p.Tyr591=) c.1661A= (p.Tyr554=) c.1415A= (p.Tyr472=) c.1655A= (p.Tyr552=) c.1598A= (p.Tyr533=) c.1529A= (p.Tyr510=) c.2108A= (p.Tyr703=) c.1997A= (p.Tyr666=) c.1973A= (p.Tyr658=) n.2150A= | |
12 | g.7209786A>C | CA383738384 | PEX5 | c.1664A>C (p.Tyr555Ser) c.1553A>C (p.Tyr518Ser) c.1640A>C (p.Tyr547Ser) c.1727A>C (p.Tyr576Ser) c.1709A>C (p.Tyr570Ser) c.1616A>C (p.Tyr539Ser) c.1772A>C (p.Tyr591Ser) c.1661A>C (p.Tyr554Ser) c.1415A>C (p.Tyr472Ser) c.1655A>C (p.Tyr552Ser) c.1598A>C (p.Tyr533Ser) c.1529A>C (p.Tyr510Ser) c.2108A>C (p.Tyr703Ser) c.1997A>C (p.Tyr666Ser) c.1973A>C (p.Tyr658Ser) n.2150A>C | dbSNP gnomAD v4 |
12 | g.7209786A>G | CA383738388 | PEX5 | c.1664A>G (p.Tyr555Cys) c.1553A>G (p.Tyr518Cys) c.1640A>G (p.Tyr547Cys) c.1727A>G (p.Tyr576Cys) c.1709A>G (p.Tyr570Cys) c.1616A>G (p.Tyr539Cys) c.1772A>G (p.Tyr591Cys) c.1661A>G (p.Tyr554Cys) c.1415A>G (p.Tyr472Cys) c.1655A>G (p.Tyr552Cys) c.1598A>G (p.Tyr533Cys) c.1529A>G (p.Tyr510Cys) c.2108A>G (p.Tyr703Cys) c.1997A>G (p.Tyr666Cys) c.1973A>G (p.Tyr658Cys) n.2150A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.7209786A>T | CA383738390 | PEX5 | c.1664A>T (p.Tyr555Phe) c.1553A>T (p.Tyr518Phe) c.1640A>T (p.Tyr547Phe) c.1727A>T (p.Tyr576Phe) c.1709A>T (p.Tyr570Phe) c.1616A>T (p.Tyr539Phe) c.1772A>T (p.Tyr591Phe) c.1661A>T (p.Tyr554Phe) c.1415A>T (p.Tyr472Phe) c.1655A>T (p.Tyr552Phe) c.1598A>T (p.Tyr533Phe) c.1529A>T (p.Tyr510Phe) c.2108A>T (p.Tyr703Phe) c.1997A>T (p.Tyr666Phe) c.1973A>T (p.Tyr658Phe) n.2150A>T | |
12 | g.7209787T>A | CA383738394 | PEX5 | c.1665T>A (p.Tyr555Ter) c.1554T>A (p.Tyr518Ter) c.1641T>A (p.Tyr547Ter) c.1728T>A (p.Tyr576Ter) c.1710T>A (p.Tyr570Ter) c.1617T>A (p.Tyr539Ter) c.1773T>A (p.Tyr591Ter) c.1662T>A (p.Tyr554Ter) c.1416T>A (p.Tyr472Ter) c.1656T>A (p.Tyr552Ter) c.1599T>A (p.Tyr533Ter) c.1530T>A (p.Tyr510Ter) c.2109T>A (p.Tyr703Ter) c.1998T>A (p.Tyr666Ter) c.1974T>A (p.Tyr658Ter) n.2151T>A | |
12 | g.7209787T>C | CA6426540 | PEX5 | c.1665T>C (p.Tyr555=) c.1554T>C (p.Tyr518=) c.1641T>C (p.Tyr547=) c.1728T>C (p.Tyr576=) c.1710T>C (p.Tyr570=) c.1617T>C (p.Tyr539=) c.1773T>C (p.Tyr591=) c.1662T>C (p.Tyr554=) c.1416T>C (p.Tyr472=) c.1656T>C (p.Tyr552=) c.1599T>C (p.Tyr533=) c.1530T>C (p.Tyr510=) c.2109T>C (p.Tyr703=) c.1998T>C (p.Tyr666=) c.1974T>C (p.Tyr658=) n.2151T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.7209787T>G | CA383738398 | PEX5 | c.1665T>G (p.Tyr555Ter) c.1554T>G (p.Tyr518Ter) c.1641T>G (p.Tyr547Ter) c.1728T>G (p.Tyr576Ter) c.1710T>G (p.Tyr570Ter) c.1617T>G (p.Tyr539Ter) c.1773T>G (p.Tyr591Ter) c.1662T>G (p.Tyr554Ter) c.1416T>G (p.Tyr472Ter) c.1656T>G (p.Tyr552Ter) c.1599T>G (p.Tyr533Ter) c.1530T>G (p.Tyr510Ter) c.2109T>G (p.Tyr703Ter) c.1998T>G (p.Tyr666Ter) c.1974T>G (p.Tyr658Ter) n.2151T>G | |
12 | g.7209787T= | CA2014448426 | PEX5 | c.1665T= (p.Tyr555=) c.1554T= (p.Tyr518=) c.1641T= (p.Tyr547=) c.1728T= (p.Tyr576=) c.1710T= (p.Tyr570=) c.1617T= (p.Tyr539=) c.1773T= (p.Tyr591=) c.1662T= (p.Tyr554=) c.1416T= (p.Tyr472=) c.1656T= (p.Tyr552=) c.1599T= (p.Tyr533=) c.1530T= (p.Tyr510=) c.2109T= (p.Tyr703=) c.1998T= (p.Tyr666=) c.1974T= (p.Tyr658=) n.2151T= | |
12 | g.7209788A>C | CA383738403 | PEX5 | c.1666A>C (p.Ile556Leu) c.1555A>C (p.Ile519Leu) c.1642A>C (p.Ile548Leu) c.1729A>C (p.Ile577Leu) c.1711A>C (p.Ile571Leu) c.1618A>C (p.Ile540Leu) c.1774A>C (p.Ile592Leu) c.1663A>C (p.Ile555Leu) c.1417A>C (p.Ile473Leu) c.1657A>C (p.Ile553Leu) c.1600A>C (p.Ile534Leu) c.1531A>C (p.Ile511Leu) c.2110A>C (p.Ile704Leu) c.1999A>C (p.Ile667Leu) c.1975A>C (p.Ile659Leu) n.2152A>C | |
12 | g.7209788A>G | CA383738407 | PEX5 | c.1666A>G (p.Ile556Val) c.1555A>G (p.Ile519Val) c.1642A>G (p.Ile548Val) c.1729A>G (p.Ile577Val) c.1711A>G (p.Ile571Val) c.1618A>G (p.Ile540Val) c.1774A>G (p.Ile592Val) c.1663A>G (p.Ile555Val) c.1417A>G (p.Ile473Val) c.1657A>G (p.Ile553Val) c.1600A>G (p.Ile534Val) c.1531A>G (p.Ile511Val) c.2110A>G (p.Ile704Val) c.1999A>G (p.Ile667Val) c.1975A>G (p.Ile659Val) n.2152A>G | |
12 | g.7209788A>T | CA383738408 | PEX5 | c.1666A>T (p.Ile556Phe) c.1555A>T (p.Ile519Phe) c.1642A>T (p.Ile548Phe) c.1729A>T (p.Ile577Phe) c.1711A>T (p.Ile571Phe) c.1618A>T (p.Ile540Phe) c.1774A>T (p.Ile592Phe) c.1663A>T (p.Ile555Phe) c.1417A>T (p.Ile473Phe) c.1657A>T (p.Ile553Phe) c.1600A>T (p.Ile534Phe) c.1531A>T (p.Ile511Phe) c.2110A>T (p.Ile704Phe) c.1999A>T (p.Ile667Phe) c.1975A>T (p.Ile659Phe) n.2152A>T | |
12 | g.7209789T>A | CA383738420 | PEX5 | c.1667T>A (p.Ile556Asn) c.1556T>A (p.Ile519Asn) c.1643T>A (p.Ile548Asn) c.1730T>A (p.Ile577Asn) c.1712T>A (p.Ile571Asn) c.1619T>A (p.Ile540Asn) c.1775T>A (p.Ile592Asn) c.1664T>A (p.Ile555Asn) c.1418T>A (p.Ile473Asn) c.1658T>A (p.Ile553Asn) c.1601T>A (p.Ile534Asn) c.1532T>A (p.Ile511Asn) c.2111T>A (p.Ile704Asn) c.2000T>A (p.Ile667Asn) c.1976T>A (p.Ile659Asn) n.2153T>A | |
12 | g.7209789T>C | CA383738413 | PEX5 | c.1667T>C (p.Ile556Thr) c.1556T>C (p.Ile519Thr) c.1643T>C (p.Ile548Thr) c.1730T>C (p.Ile577Thr) c.1712T>C (p.Ile571Thr) c.1619T>C (p.Ile540Thr) c.1775T>C (p.Ile592Thr) c.1664T>C (p.Ile555Thr) c.1418T>C (p.Ile473Thr) c.1658T>C (p.Ile553Thr) c.1601T>C (p.Ile534Thr) c.1532T>C (p.Ile511Thr) c.2111T>C (p.Ile704Thr) c.2000T>C (p.Ile667Thr) c.1976T>C (p.Ile659Thr) n.2153T>C | |
12 | g.7209789T>G | CA383738416 | PEX5 | c.1667T>G (p.Ile556Ser) c.1556T>G (p.Ile519Ser) c.1643T>G (p.Ile548Ser) c.1730T>G (p.Ile577Ser) c.1712T>G (p.Ile571Ser) c.1619T>G (p.Ile540Ser) c.1775T>G (p.Ile592Ser) c.1664T>G (p.Ile555Ser) c.1418T>G (p.Ile473Ser) c.1658T>G (p.Ile553Ser) c.1601T>G (p.Ile534Ser) c.1532T>G (p.Ile511Ser) c.2111T>G (p.Ile704Ser) c.2000T>G (p.Ile667Ser) c.1976T>G (p.Ile659Ser) n.2153T>G | |
12 | g.7209790C>A | CA478523425 | PEX5 | c.1668C>A (p.Ile556=) c.1557C>A (p.Ile519=) c.1644C>A (p.Ile548=) c.1731C>A (p.Ile577=) c.1713C>A (p.Ile571=) c.1620C>A (p.Ile540=) c.1776C>A (p.Ile592=) c.1665C>A (p.Ile555=) c.1419C>A (p.Ile473=) c.1659C>A (p.Ile553=) c.1602C>A (p.Ile534=) c.1533C>A (p.Ile511=) c.2112C>A (p.Ile704=) c.2001C>A (p.Ile667=) c.1977C>A (p.Ile659=) n.2154C>A | |
12 | g.7209790C= | CA2014448427 | PEX5 | c.1668C= (p.Ile556=) c.1557C= (p.Ile519=) c.1644C= (p.Ile548=) c.1731C= (p.Ile577=) c.1713C= (p.Ile571=) c.1620C= (p.Ile540=) c.1776C= (p.Ile592=) c.1665C= (p.Ile555=) c.1419C= (p.Ile473=) c.1659C= (p.Ile553=) c.1602C= (p.Ile534=) c.1533C= (p.Ile511=) c.2112C= (p.Ile704=) c.2001C= (p.Ile667=) c.1977C= (p.Ile659=) n.2154C= | |
12 | g.7209790C>G | CA232477031 | PEX5 | c.1668C>G (p.Ile556Met) c.1557C>G (p.Ile519Met) c.1644C>G (p.Ile548Met) c.1731C>G (p.Ile577Met) c.1713C>G (p.Ile571Met) c.1620C>G (p.Ile540Met) c.1776C>G (p.Ile592Met) c.1665C>G (p.Ile555Met) c.1419C>G (p.Ile473Met) c.1659C>G (p.Ile553Met) c.1602C>G (p.Ile534Met) c.1533C>G (p.Ile511Met) c.2112C>G (p.Ile704Met) c.2001C>G (p.Ile667Met) c.1977C>G (p.Ile659Met) n.2154C>G | dbSNP gnomAD v4 |
12 | g.7209790C>T | CA478523426 | PEX5 | c.1668C>T (p.Ile556=) c.1557C>T (p.Ile519=) c.1644C>T (p.Ile548=) c.1731C>T (p.Ile577=) c.1713C>T (p.Ile571=) c.1620C>T (p.Ile540=) c.1776C>T (p.Ile592=) c.1665C>T (p.Ile555=) c.1419C>T (p.Ile473=) c.1659C>T (p.Ile553=) c.1602C>T (p.Ile534=) c.1533C>T (p.Ile511=) c.2112C>T (p.Ile704=) c.2001C>T (p.Ile667=) c.1977C>T (p.Ile659=) n.2154C>T | ClinVar |
12 | g.7209791C>A | CA478523427 | PEX5 | c.1669C>A (p.Arg557=) c.1558C>A (p.Arg520=) c.1645C>A (p.Arg549=) c.1732C>A (p.Arg578=) c.1714C>A (p.Arg572=) c.1621C>A (p.Arg541=) c.1777C>A (p.Arg593=) c.1666C>A (p.Arg556=) c.1420C>A (p.Arg474=) c.1660C>A (p.Arg554=) c.1603C>A (p.Arg535=) c.1534C>A (p.Arg512=) c.2113C>A (p.Arg705=) c.2002C>A (p.Arg668=) c.1978C>A (p.Arg660=) n.2155C>A | |
12 | g.7209791C= | CA2014448428 | PEX5 | c.1669C= (p.Arg557=) c.1558C= (p.Arg520=) c.1645C= (p.Arg549=) c.1732C= (p.Arg578=) c.1714C= (p.Arg572=) c.1621C= (p.Arg541=) c.1777C= (p.Arg593=) c.1666C= (p.Arg556=) c.1420C= (p.Arg474=) c.1660C= (p.Arg554=) c.1603C= (p.Arg535=) c.1534C= (p.Arg512=) c.2113C= (p.Arg705=) c.2002C= (p.Arg668=) c.1978C= (p.Arg660=) n.2155C= | |
12 | g.7209791C>G | CA383738429 | PEX5 | c.1669C>G (p.Arg557Gly) c.1558C>G (p.Arg520Gly) c.1645C>G (p.Arg549Gly) c.1732C>G (p.Arg578Gly) c.1714C>G (p.Arg572Gly) c.1621C>G (p.Arg541Gly) c.1777C>G (p.Arg593Gly) c.1666C>G (p.Arg556Gly) c.1420C>G (p.Arg474Gly) c.1660C>G (p.Arg554Gly) c.1603C>G (p.Arg535Gly) c.1534C>G (p.Arg512Gly) c.2113C>G (p.Arg705Gly) c.2002C>G (p.Arg668Gly) c.1978C>G (p.Arg660Gly) n.2155C>G | |
12 | g.7209791C>T | CA383738432 | PEX5 | c.1669C>T (p.Arg557Trp) c.1558C>T (p.Arg520Trp) c.1645C>T (p.Arg549Trp) c.1732C>T (p.Arg578Trp) c.1714C>T (p.Arg572Trp) c.1621C>T (p.Arg541Trp) c.1777C>T (p.Arg593Trp) c.1666C>T (p.Arg556Trp) c.1420C>T (p.Arg474Trp) c.1660C>T (p.Arg554Trp) c.1603C>T (p.Arg535Trp) c.1534C>T (p.Arg512Trp) c.2113C>T (p.Arg705Trp) c.2002C>T (p.Arg668Trp) c.1978C>T (p.Arg660Trp) n.2155C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.7209792G>A | CA383738439 | PEX5 | c.1670G>A (p.Arg557Gln) c.1559G>A (p.Arg520Gln) c.1646G>A (p.Arg549Gln) c.1733G>A (p.Arg578Gln) c.1715G>A (p.Arg572Gln) c.1622G>A (p.Arg541Gln) c.1778G>A (p.Arg593Gln) c.1667G>A (p.Arg556Gln) c.1421G>A (p.Arg474Gln) c.1661G>A (p.Arg554Gln) c.1604G>A (p.Arg535Gln) c.1535G>A (p.Arg512Gln) c.2114G>A (p.Arg705Gln) c.2003G>A (p.Arg668Gln) c.1979G>A (p.Arg660Gln) n.2156G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.7209792G>C | CA383738442 | PEX5 | c.1670G>C (p.Arg557Pro) c.1559G>C (p.Arg520Pro) c.1646G>C (p.Arg549Pro) c.1733G>C (p.Arg578Pro) c.1715G>C (p.Arg572Pro) c.1622G>C (p.Arg541Pro) c.1778G>C (p.Arg593Pro) c.1667G>C (p.Arg556Pro) c.1421G>C (p.Arg474Pro) c.1661G>C (p.Arg554Pro) c.1604G>C (p.Arg535Pro) c.1535G>C (p.Arg512Pro) c.2114G>C (p.Arg705Pro) c.2003G>C (p.Arg668Pro) c.1979G>C (p.Arg660Pro) n.2156G>C | |
12 | g.7209792G= | CA2014448429 | PEX5 | c.1670G= (p.Arg557=) c.1559G= (p.Arg520=) c.1646G= (p.Arg549=) c.1733G= (p.Arg578=) c.1715G= (p.Arg572=) c.1622G= (p.Arg541=) c.1778G= (p.Arg593=) c.1667G= (p.Arg556=) c.1421G= (p.Arg474=) c.1661G= (p.Arg554=) c.1604G= (p.Arg535=) c.1535G= (p.Arg512=) c.2114G= (p.Arg705=) c.2003G= (p.Arg668=) c.1979G= (p.Arg660=) n.2156G= | |
12 | g.7209792G>T | CA383738445 | PEX5 | c.1670G>T (p.Arg557Leu) c.1559G>T (p.Arg520Leu) c.1646G>T (p.Arg549Leu) c.1733G>T (p.Arg578Leu) c.1715G>T (p.Arg572Leu) c.1622G>T (p.Arg541Leu) c.1778G>T (p.Arg593Leu) c.1667G>T (p.Arg556Leu) c.1421G>T (p.Arg474Leu) c.1661G>T (p.Arg554Leu) c.1604G>T (p.Arg535Leu) c.1535G>T (p.Arg512Leu) c.2114G>T (p.Arg705Leu) c.2003G>T (p.Arg668Leu) c.1979G>T (p.Arg660Leu) n.2156G>T | |
12 | g.7209793G>A | CA478523431 | PEX5 | c.1671G>A (p.Arg557=) c.1560G>A (p.Arg520=) c.1647G>A (p.Arg549=) c.1734G>A (p.Arg578=) c.1716G>A (p.Arg572=) c.1623G>A (p.Arg541=) c.1779G>A (p.Arg593=) c.1668G>A (p.Arg556=) c.1422G>A (p.Arg474=) c.1662G>A (p.Arg554=) c.1605G>A (p.Arg535=) c.1536G>A (p.Arg512=) c.2115G>A (p.Arg705=) c.2004G>A (p.Arg668=) c.1980G>A (p.Arg660=) n.2157G>A | |
12 | g.7209793G>C | CA478523430 | PEX5 | c.1671G>C (p.Arg557=) c.1560G>C (p.Arg520=) c.1647G>C (p.Arg549=) c.1734G>C (p.Arg578=) c.1716G>C (p.Arg572=) c.1623G>C (p.Arg541=) c.1779G>C (p.Arg593=) c.1668G>C (p.Arg556=) c.1422G>C (p.Arg474=) c.1662G>C (p.Arg554=) c.1605G>C (p.Arg535=) c.1536G>C (p.Arg512=) c.2115G>C (p.Arg705=) c.2004G>C (p.Arg668=) c.1980G>C (p.Arg660=) n.2157G>C | gnomAD v4 |
12 | g.7209793G>T | CA478523429 | PEX5 | c.1671G>T (p.Arg557=) c.1560G>T (p.Arg520=) c.1647G>T (p.Arg549=) c.1734G>T (p.Arg578=) c.1716G>T (p.Arg572=) c.1623G>T (p.Arg541=) c.1779G>T (p.Arg593=) c.1668G>T (p.Arg556=) c.1422G>T (p.Arg474=) c.1662G>T (p.Arg554=) c.1605G>T (p.Arg535=) c.1536G>T (p.Arg512=) c.2115G>T (p.Arg705=) c.2004G>T (p.Arg668=) c.1980G>T (p.Arg660=) n.2157G>T | COSMIC COSMIC |
12 | g.7209794T>A | CA383738448 | PEX5 | c.1672T>A (p.Ser558Thr) c.1561T>A (p.Ser521Thr) c.1648T>A (p.Ser550Thr) c.1735T>A (p.Ser579Thr) c.1717T>A (p.Ser573Thr) c.1624T>A (p.Ser542Thr) c.1780T>A (p.Ser594Thr) c.1669T>A (p.Ser557Thr) c.1423T>A (p.Ser475Thr) c.1663T>A (p.Ser555Thr) c.1606T>A (p.Ser536Thr) c.1537T>A (p.Ser513Thr) c.2116T>A (p.Ser706Thr) c.2005T>A (p.Ser669Thr) c.1981T>A (p.Ser661Thr) n.2158T>A | gnomAD v4 |
12 | g.7209794T>C | CA383738451 | PEX5 | c.1672T>C (p.Ser558Pro) c.1561T>C (p.Ser521Pro) c.1648T>C (p.Ser550Pro) c.1735T>C (p.Ser579Pro) c.1717T>C (p.Ser573Pro) c.1624T>C (p.Ser542Pro) c.1780T>C (p.Ser594Pro) c.1669T>C (p.Ser557Pro) c.1423T>C (p.Ser475Pro) c.1663T>C (p.Ser555Pro) c.1606T>C (p.Ser536Pro) c.1537T>C (p.Ser513Pro) c.2116T>C (p.Ser706Pro) c.2005T>C (p.Ser669Pro) c.1981T>C (p.Ser661Pro) n.2158T>C | |
12 | g.7209794T>G | CA383738455 | PEX5 | c.1672T>G (p.Ser558Ala) c.1561T>G (p.Ser521Ala) c.1648T>G (p.Ser550Ala) c.1735T>G (p.Ser579Ala) c.1717T>G (p.Ser573Ala) c.1624T>G (p.Ser542Ala) c.1780T>G (p.Ser594Ala) c.1669T>G (p.Ser557Ala) c.1423T>G (p.Ser475Ala) c.1663T>G (p.Ser555Ala) c.1606T>G (p.Ser536Ala) c.1537T>G (p.Ser513Ala) c.2116T>G (p.Ser706Ala) c.2005T>G (p.Ser669Ala) c.1981T>G (p.Ser661Ala) n.2158T>G | |
12 | g.7209795C>A | CA383738463 | PEX5 | c.1673C>A (p.Ser558Tyr) c.1562C>A (p.Ser521Tyr) c.1649C>A (p.Ser550Tyr) c.1736C>A (p.Ser579Tyr) c.1718C>A (p.Ser573Tyr) c.1625C>A (p.Ser542Tyr) c.1781C>A (p.Ser594Tyr) c.1670C>A (p.Ser557Tyr) c.1424C>A (p.Ser475Tyr) c.1664C>A (p.Ser555Tyr) c.1607C>A (p.Ser536Tyr) c.1538C>A (p.Ser513Tyr) c.2117C>A (p.Ser706Tyr) c.2006C>A (p.Ser669Tyr) c.1982C>A (p.Ser661Tyr) n.2159C>A | |
12 | g.7209795C>G | CA383738472 | PEX5 | c.1673C>G (p.Ser558Cys) c.1562C>G (p.Ser521Cys) c.1649C>G (p.Ser550Cys) c.1736C>G (p.Ser579Cys) c.1718C>G (p.Ser573Cys) c.1625C>G (p.Ser542Cys) c.1781C>G (p.Ser594Cys) c.1670C>G (p.Ser557Cys) c.1424C>G (p.Ser475Cys) c.1664C>G (p.Ser555Cys) c.1607C>G (p.Ser536Cys) c.1538C>G (p.Ser513Cys) c.2117C>G (p.Ser706Cys) c.2006C>G (p.Ser669Cys) c.1982C>G (p.Ser661Cys) n.2159C>G | |
12 | g.7209795C>T | CA383738474 | PEX5 | c.1673C>T (p.Ser558Phe) c.1562C>T (p.Ser521Phe) c.1649C>T (p.Ser550Phe) c.1736C>T (p.Ser579Phe) c.1718C>T (p.Ser573Phe) c.1625C>T (p.Ser542Phe) c.1781C>T (p.Ser594Phe) c.1670C>T (p.Ser557Phe) c.1424C>T (p.Ser475Phe) c.1664C>T (p.Ser555Phe) c.1607C>T (p.Ser536Phe) c.1538C>T (p.Ser513Phe) c.2117C>T (p.Ser706Phe) c.2006C>T (p.Ser669Phe) c.1982C>T (p.Ser661Phe) n.2159C>T | |
12 | g.7209796C>A | CA478523433 | PEX5 | c.1674C>A (p.Ser558=) c.1563C>A (p.Ser521=) c.1650C>A (p.Ser550=) c.1737C>A (p.Ser579=) c.1719C>A (p.Ser573=) c.1626C>A (p.Ser542=) c.1782C>A (p.Ser594=) c.1671C>A (p.Ser557=) c.1425C>A (p.Ser475=) c.1665C>A (p.Ser555=) c.1608C>A (p.Ser536=) c.1539C>A (p.Ser513=) c.2118C>A (p.Ser706=) c.2007C>A (p.Ser669=) c.1983C>A (p.Ser661=) n.2160C>A | |
12 | g.7209796C>G | CA478523434 | PEX5 | c.1674C>G (p.Ser558=) c.1563C>G (p.Ser521=) c.1650C>G (p.Ser550=) c.1737C>G (p.Ser579=) c.1719C>G (p.Ser573=) c.1626C>G (p.Ser542=) c.1782C>G (p.Ser594=) c.1671C>G (p.Ser557=) c.1425C>G (p.Ser475=) c.1665C>G (p.Ser555=) c.1608C>G (p.Ser536=) c.1539C>G (p.Ser513=) c.2118C>G (p.Ser706=) c.2007C>G (p.Ser669=) c.1983C>G (p.Ser661=) n.2160C>G | |
12 | g.7209796C>T | CA478523435 | PEX5 | c.1674C>T (p.Ser558=) c.1563C>T (p.Ser521=) c.1650C>T (p.Ser550=) c.1737C>T (p.Ser579=) c.1719C>T (p.Ser573=) c.1626C>T (p.Ser542=) c.1782C>T (p.Ser594=) c.1671C>T (p.Ser557=) c.1425C>T (p.Ser475=) c.1665C>T (p.Ser555=) c.1608C>T (p.Ser536=) c.1539C>T (p.Ser513=) c.2118C>T (p.Ser706=) c.2007C>T (p.Ser669=) c.1983C>T (p.Ser661=) n.2160C>T | ClinVar dbSNP |
12 | g.7209797C>A | CA383738478 | PEX5 | c.1675C>A (p.Arg559Ser) c.1564C>A (p.Arg522Ser) c.1651C>A (p.Arg551Ser) c.1738C>A (p.Arg580Ser) c.1720C>A (p.Arg574Ser) c.1627C>A (p.Arg543Ser) c.1783C>A (p.Arg595Ser) c.1672C>A (p.Arg558Ser) c.1426C>A (p.Arg476Ser) c.1666C>A (p.Arg556Ser) c.1609C>A (p.Arg537Ser) c.1540C>A (p.Arg514Ser) c.2119C>A (p.Arg707Ser) c.2008C>A (p.Arg670Ser) c.1984C>A (p.Arg662Ser) n.2161C>A | |
12 | g.7209797C= | CA2014448430 | PEX5 | c.1675C= (p.Arg559=) c.1564C= (p.Arg522=) c.1651C= (p.Arg551=) c.1738C= (p.Arg580=) c.1720C= (p.Arg574=) c.1627C= (p.Arg543=) c.1783C= (p.Arg595=) c.1672C= (p.Arg558=) c.1426C= (p.Arg476=) c.1666C= (p.Arg556=) c.1609C= (p.Arg537=) c.1540C= (p.Arg514=) c.2119C= (p.Arg707=) c.2008C= (p.Arg670=) c.1984C= (p.Arg662=) n.2161C= | |
12 | g.7209797C>G | CA383738482 | PEX5 | c.1675C>G (p.Arg559Gly) c.1564C>G (p.Arg522Gly) c.1651C>G (p.Arg551Gly) c.1738C>G (p.Arg580Gly) c.1720C>G (p.Arg574Gly) c.1627C>G (p.Arg543Gly) c.1783C>G (p.Arg595Gly) c.1672C>G (p.Arg558Gly) c.1426C>G (p.Arg476Gly) c.1666C>G (p.Arg556Gly) c.1609C>G (p.Arg537Gly) c.1540C>G (p.Arg514Gly) c.2119C>G (p.Arg707Gly) c.2008C>G (p.Arg670Gly) c.1984C>G (p.Arg662Gly) n.2161C>G | |
12 | g.7209797C>T | CA6426541 | PEX5 | c.1675C>T (p.Arg559Cys) c.1564C>T (p.Arg522Cys) c.1651C>T (p.Arg551Cys) c.1738C>T (p.Arg580Cys) c.1720C>T (p.Arg574Cys) c.1627C>T (p.Arg543Cys) c.1783C>T (p.Arg595Cys) c.1672C>T (p.Arg558Cys) c.1426C>T (p.Arg476Cys) c.1666C>T (p.Arg556Cys) c.1609C>T (p.Arg537Cys) c.1540C>T (p.Arg514Cys) c.2119C>T (p.Arg707Cys) c.2008C>T (p.Arg670Cys) c.1984C>T (p.Arg662Cys) n.2161C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.7209798G>A | CA383738491 | PEX5 | c.1676G>A (p.Arg559His) c.1565G>A (p.Arg522His) c.1652G>A (p.Arg551His) c.1739G>A (p.Arg580His) c.1721G>A (p.Arg574His) c.1628G>A (p.Arg543His) c.1784G>A (p.Arg595His) c.1673G>A (p.Arg558His) c.1427G>A (p.Arg476His) c.1667G>A (p.Arg556His) c.1610G>A (p.Arg537His) c.1541G>A (p.Arg514His) c.2120G>A (p.Arg707His) c.2009G>A (p.Arg670His) c.1985G>A (p.Arg662His) n.2162G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.7209798G>C | CA383738497 | PEX5 | c.1676G>C (p.Arg559Pro) c.1565G>C (p.Arg522Pro) c.1652G>C (p.Arg551Pro) c.1739G>C (p.Arg580Pro) c.1721G>C (p.Arg574Pro) c.1628G>C (p.Arg543Pro) c.1784G>C (p.Arg595Pro) c.1673G>C (p.Arg558Pro) c.1427G>C (p.Arg476Pro) c.1667G>C (p.Arg556Pro) c.1610G>C (p.Arg537Pro) c.1541G>C (p.Arg514Pro) c.2120G>C (p.Arg707Pro) c.2009G>C (p.Arg670Pro) c.1985G>C (p.Arg662Pro) n.2162G>C | |
12 | g.7209798G= | CA2014448431 | PEX5 | c.1676G= (p.Arg559=) c.1565G= (p.Arg522=) c.1652G= (p.Arg551=) c.1739G= (p.Arg580=) c.1721G= (p.Arg574=) c.1628G= (p.Arg543=) c.1784G= (p.Arg595=) c.1673G= (p.Arg558=) c.1427G= (p.Arg476=) c.1667G= (p.Arg556=) c.1610G= (p.Arg537=) c.1541G= (p.Arg514=) c.2120G= (p.Arg707=) c.2009G= (p.Arg670=) c.1985G= (p.Arg662=) n.2162G= | |
12 | g.7209798G>T | CA383738493 | PEX5 | c.1676G>T (p.Arg559Leu) c.1565G>T (p.Arg522Leu) c.1652G>T (p.Arg551Leu) c.1739G>T (p.Arg580Leu) c.1721G>T (p.Arg574Leu) c.1628G>T (p.Arg543Leu) c.1784G>T (p.Arg595Leu) c.1673G>T (p.Arg558Leu) c.1427G>T (p.Arg476Leu) c.1667G>T (p.Arg556Leu) c.1610G>T (p.Arg537Leu) c.1541G>T (p.Arg514Leu) c.2120G>T (p.Arg707Leu) c.2009G>T (p.Arg670Leu) c.1985G>T (p.Arg662Leu) n.2162G>T | |
12 | g.7209799C>A | CA478523437 | PEX5 | c.1677C>A (p.Arg559=) c.1566C>A (p.Arg522=) c.1653C>A (p.Arg551=) c.1740C>A (p.Arg580=) c.1722C>A (p.Arg574=) c.1629C>A (p.Arg543=) c.1785C>A (p.Arg595=) c.1674C>A (p.Arg558=) c.1428C>A (p.Arg476=) c.1668C>A (p.Arg556=) c.1611C>A (p.Arg537=) c.1542C>A (p.Arg514=) c.2121C>A (p.Arg707=) c.2010C>A (p.Arg670=) c.1986C>A (p.Arg662=) n.2163C>A | |
12 | g.7209799C= | CA2014448432 | PEX5 | c.1677C= (p.Arg559=) c.1566C= (p.Arg522=) c.1653C= (p.Arg551=) c.1740C= (p.Arg580=) c.1722C= (p.Arg574=) c.1629C= (p.Arg543=) c.1785C= (p.Arg595=) c.1674C= (p.Arg558=) c.1428C= (p.Arg476=) c.1668C= (p.Arg556=) c.1611C= (p.Arg537=) c.1542C= (p.Arg514=) c.2121C= (p.Arg707=) c.2010C= (p.Arg670=) c.1986C= (p.Arg662=) n.2163C= | |
12 | g.7209799C>G | CA478523438 | PEX5 | c.1677C>G (p.Arg559=) c.1566C>G (p.Arg522=) c.1653C>G (p.Arg551=) c.1740C>G (p.Arg580=) c.1722C>G (p.Arg574=) c.1629C>G (p.Arg543=) c.1785C>G (p.Arg595=) c.1674C>G (p.Arg558=) c.1428C>G (p.Arg476=) c.1668C>G (p.Arg556=) c.1611C>G (p.Arg537=) c.1542C>G (p.Arg514=) c.2121C>G (p.Arg707=) c.2010C>G (p.Arg670=) c.1986C>G (p.Arg662=) n.2163C>G | |
12 | g.7209799C>T | CA6426542 | PEX5 | c.1677C>T (p.Arg559=) c.1566C>T (p.Arg522=) c.1653C>T (p.Arg551=) c.1740C>T (p.Arg580=) c.1722C>T (p.Arg574=) c.1629C>T (p.Arg543=) c.1785C>T (p.Arg595=) c.1674C>T (p.Arg558=) c.1428C>T (p.Arg476=) c.1668C>T (p.Arg556=) c.1611C>T (p.Arg537=) c.1542C>T (p.Arg514=) c.2121C>T (p.Arg707=) c.2010C>T (p.Arg670=) c.1986C>T (p.Arg662=) n.2163C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.7209800T>A | CA383738501 | PEX5 | c.1678T>A (p.Tyr560Asn) c.1567T>A (p.Tyr523Asn) c.1654T>A (p.Tyr552Asn) c.1741T>A (p.Tyr581Asn) c.1723T>A (p.Tyr575Asn) c.1630T>A (p.Tyr544Asn) c.1786T>A (p.Tyr596Asn) c.1675T>A (p.Tyr559Asn) c.1429T>A (p.Tyr477Asn) c.1669T>A (p.Tyr557Asn) c.1612T>A (p.Tyr538Asn) c.1543T>A (p.Tyr515Asn) c.2122T>A (p.Tyr708Asn) c.2011T>A (p.Tyr671Asn) c.1987T>A (p.Tyr663Asn) n.2164T>A | |
12 | g.7209800T>C | CA6426543 | PEX5 | c.1678T>C (p.Tyr560His) c.1567T>C (p.Tyr523His) c.1654T>C (p.Tyr552His) c.1741T>C (p.Tyr581His) c.1723T>C (p.Tyr575His) c.1630T>C (p.Tyr544His) c.1786T>C (p.Tyr596His) c.1675T>C (p.Tyr559His) c.1429T>C (p.Tyr477His) c.1669T>C (p.Tyr557His) c.1612T>C (p.Tyr538His) c.1543T>C (p.Tyr515His) c.2122T>C (p.Tyr708His) c.2011T>C (p.Tyr671His) c.1987T>C (p.Tyr663His) n.2164T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.7209800T>G | CA383738507 | PEX5 | c.1678T>G (p.Tyr560Asp) c.1567T>G (p.Tyr523Asp) c.1654T>G (p.Tyr552Asp) c.1741T>G (p.Tyr581Asp) c.1723T>G (p.Tyr575Asp) c.1630T>G (p.Tyr544Asp) c.1786T>G (p.Tyr596Asp) c.1675T>G (p.Tyr559Asp) c.1429T>G (p.Tyr477Asp) c.1669T>G (p.Tyr557Asp) c.1612T>G (p.Tyr538Asp) c.1543T>G (p.Tyr515Asp) c.2122T>G (p.Tyr708Asp) c.2011T>G (p.Tyr671Asp) c.1987T>G (p.Tyr663Asp) n.2164T>G | |
12 | g.7209800T= | CA2014448433 | PEX5 | c.1678T= (p.Tyr560=) c.1567T= (p.Tyr523=) c.1654T= (p.Tyr552=) c.1741T= (p.Tyr581=) c.1723T= (p.Tyr575=) c.1630T= (p.Tyr544=) c.1786T= (p.Tyr596=) c.1675T= (p.Tyr559=) c.1429T= (p.Tyr477=) c.1669T= (p.Tyr557=) c.1612T= (p.Tyr538=) c.1543T= (p.Tyr515=) c.2122T= (p.Tyr708=) c.2011T= (p.Tyr671=) c.1987T= (p.Tyr663=) n.2164T= | |
12 | g.7209801A= | CA2014448434 | PEX5 | c.1679A= (p.Tyr560=) c.1568A= (p.Tyr523=) c.1655A= (p.Tyr552=) c.1742A= (p.Tyr581=) c.1724A= (p.Tyr575=) c.1631A= (p.Tyr544=) c.1787A= (p.Tyr596=) c.1676A= (p.Tyr559=) c.1430A= (p.Tyr477=) c.1670A= (p.Tyr557=) c.1613A= (p.Tyr538=) c.1544A= (p.Tyr515=) c.2123A= (p.Tyr708=) c.2012A= (p.Tyr671=) c.1988A= (p.Tyr663=) n.2165A= | |
12 | g.7209801A>C | CA383738511 | PEX5 | c.1679A>C (p.Tyr560Ser) c.1568A>C (p.Tyr523Ser) c.1655A>C (p.Tyr552Ser) c.1742A>C (p.Tyr581Ser) c.1724A>C (p.Tyr575Ser) c.1631A>C (p.Tyr544Ser) c.1787A>C (p.Tyr596Ser) c.1676A>C (p.Tyr559Ser) c.1430A>C (p.Tyr477Ser) c.1670A>C (p.Tyr557Ser) c.1613A>C (p.Tyr538Ser) c.1544A>C (p.Tyr515Ser) c.2123A>C (p.Tyr708Ser) c.2012A>C (p.Tyr671Ser) c.1988A>C (p.Tyr663Ser) n.2165A>C | |
12 | g.7209801A>G | CA6426544 | PEX5 | c.1679A>G (p.Tyr560Cys) c.1568A>G (p.Tyr523Cys) c.1655A>G (p.Tyr552Cys) c.1742A>G (p.Tyr581Cys) c.1724A>G (p.Tyr575Cys) c.1631A>G (p.Tyr544Cys) c.1787A>G (p.Tyr596Cys) c.1676A>G (p.Tyr559Cys) c.1430A>G (p.Tyr477Cys) c.1670A>G (p.Tyr557Cys) c.1613A>G (p.Tyr538Cys) c.1544A>G (p.Tyr515Cys) c.2123A>G (p.Tyr708Cys) c.2012A>G (p.Tyr671Cys) c.1988A>G (p.Tyr663Cys) n.2165A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.7209801A>T | CA383738515 | PEX5 | c.1679A>T (p.Tyr560Phe) c.1568A>T (p.Tyr523Phe) c.1655A>T (p.Tyr552Phe) c.1742A>T (p.Tyr581Phe) c.1724A>T (p.Tyr575Phe) c.1631A>T (p.Tyr544Phe) c.1787A>T (p.Tyr596Phe) c.1676A>T (p.Tyr559Phe) c.1430A>T (p.Tyr477Phe) c.1670A>T (p.Tyr557Phe) c.1613A>T (p.Tyr538Phe) c.1544A>T (p.Tyr515Phe) c.2123A>T (p.Tyr708Phe) c.2012A>T (p.Tyr671Phe) c.1988A>T (p.Tyr663Phe) n.2165A>T | |
12 | g.7209802T>A | CA383738526 | PEX5 | c.1680T>A (p.Tyr560Ter) c.1569T>A (p.Tyr523Ter) c.1656T>A (p.Tyr552Ter) c.1743T>A (p.Tyr581Ter) c.1725T>A (p.Tyr575Ter) c.1632T>A (p.Tyr544Ter) c.1788T>A (p.Tyr596Ter) c.1677T>A (p.Tyr559Ter) c.1431T>A (p.Tyr477Ter) c.1671T>A (p.Tyr557Ter) c.1614T>A (p.Tyr538Ter) c.1545T>A (p.Tyr515Ter) c.2124T>A (p.Tyr708Ter) c.2013T>A (p.Tyr671Ter) c.1989T>A (p.Tyr663Ter) n.2166T>A | |
12 | g.7209802T>C | CA478523442 | PEX5 | c.1680T>C (p.Tyr560=) c.1569T>C (p.Tyr523=) c.1656T>C (p.Tyr552=) c.1743T>C (p.Tyr581=) c.1725T>C (p.Tyr575=) c.1632T>C (p.Tyr544=) c.1788T>C (p.Tyr596=) c.1677T>C (p.Tyr559=) c.1431T>C (p.Tyr477=) c.1671T>C (p.Tyr557=) c.1614T>C (p.Tyr538=) c.1545T>C (p.Tyr515=) c.2124T>C (p.Tyr708=) c.2013T>C (p.Tyr671=) c.1989T>C (p.Tyr663=) n.2166T>C | |
12 | g.7209802T>G | CA383738529 | PEX5 | c.1680T>G (p.Tyr560Ter) c.1569T>G (p.Tyr523Ter) c.1656T>G (p.Tyr552Ter) c.1743T>G (p.Tyr581Ter) c.1725T>G (p.Tyr575Ter) c.1632T>G (p.Tyr544Ter) c.1788T>G (p.Tyr596Ter) c.1677T>G (p.Tyr559Ter) c.1431T>G (p.Tyr477Ter) c.1671T>G (p.Tyr557Ter) c.1614T>G (p.Tyr538Ter) c.1545T>G (p.Tyr515Ter) c.2124T>G (p.Tyr708Ter) c.2013T>G (p.Tyr671Ter) c.1989T>G (p.Tyr663Ter) n.2166T>G | |
12 | g.7209803A>C | CA383738534 | PEX5 | c.1681A>C (p.Asn561His) c.1570A>C (p.Asn524His) c.1657A>C (p.Asn553His) c.1744A>C (p.Asn582His) c.1726A>C (p.Asn576His) c.1633A>C (p.Asn545His) c.1789A>C (p.Asn597His) c.1678A>C (p.Asn560His) c.1432A>C (p.Asn478His) c.1672A>C (p.Asn558His) c.1615A>C (p.Asn539His) c.1546A>C (p.Asn516His) c.2125A>C (p.Asn709His) c.2014A>C (p.Asn672His) c.1990A>C (p.Asn664His) n.2167A>C | |
12 | g.7209803A>G | CA383738537 | PEX5 | c.1681A>G (p.Asn561Asp) c.1570A>G (p.Asn524Asp) c.1657A>G (p.Asn553Asp) c.1744A>G (p.Asn582Asp) c.1726A>G (p.Asn576Asp) c.1633A>G (p.Asn545Asp) c.1789A>G (p.Asn597Asp) c.1678A>G (p.Asn560Asp) c.1432A>G (p.Asn478Asp) c.1672A>G (p.Asn558Asp) c.1615A>G (p.Asn539Asp) c.1546A>G (p.Asn516Asp) c.2125A>G (p.Asn709Asp) c.2014A>G (p.Asn672Asp) c.1990A>G (p.Asn664Asp) n.2167A>G | |
12 | g.7209803A>T | CA383738540 | PEX5 | c.1681A>T (p.Asn561Tyr) c.1570A>T (p.Asn524Tyr) c.1657A>T (p.Asn553Tyr) c.1744A>T (p.Asn582Tyr) c.1726A>T (p.Asn576Tyr) c.1633A>T (p.Asn545Tyr) c.1789A>T (p.Asn597Tyr) c.1678A>T (p.Asn560Tyr) c.1432A>T (p.Asn478Tyr) c.1672A>T (p.Asn558Tyr) c.1615A>T (p.Asn539Tyr) c.1546A>T (p.Asn516Tyr) c.2125A>T (p.Asn709Tyr) c.2014A>T (p.Asn672Tyr) c.1990A>T (p.Asn664Tyr) n.2167A>T | |
12 | g.7209804A>C | CA383738547 | PEX5 | c.1682A>C (p.Asn561Thr) c.1571A>C (p.Asn524Thr) c.1658A>C (p.Asn553Thr) c.1745A>C (p.Asn582Thr) c.1727A>C (p.Asn576Thr) c.1634A>C (p.Asn545Thr) c.1790A>C (p.Asn597Thr) c.1679A>C (p.Asn560Thr) c.1433A>C (p.Asn478Thr) c.1673A>C (p.Asn558Thr) c.1616A>C (p.Asn539Thr) c.1547A>C (p.Asn516Thr) c.2126A>C (p.Asn709Thr) c.2015A>C (p.Asn672Thr) c.1991A>C (p.Asn664Thr) n.2168A>C | |
12 | g.7209804A>G | CA383738548 | PEX5 | c.1682A>G (p.Asn561Ser) c.1571A>G (p.Asn524Ser) c.1658A>G (p.Asn553Ser) c.1745A>G (p.Asn582Ser) c.1727A>G (p.Asn576Ser) c.1634A>G (p.Asn545Ser) c.1790A>G (p.Asn597Ser) c.1679A>G (p.Asn560Ser) c.1433A>G (p.Asn478Ser) c.1673A>G (p.Asn558Ser) c.1616A>G (p.Asn539Ser) c.1547A>G (p.Asn516Ser) c.2126A>G (p.Asn709Ser) c.2015A>G (p.Asn672Ser) c.1991A>G (p.Asn664Ser) n.2168A>G | |
12 | g.7209804A>T | CA383738554 | PEX5 | c.1682A>T (p.Asn561Ile) c.1571A>T (p.Asn524Ile) c.1658A>T (p.Asn553Ile) c.1745A>T (p.Asn582Ile) c.1727A>T (p.Asn576Ile) c.1634A>T (p.Asn545Ile) c.1790A>T (p.Asn597Ile) c.1679A>T (p.Asn560Ile) c.1433A>T (p.Asn478Ile) c.1673A>T (p.Asn558Ile) c.1616A>T (p.Asn539Ile) c.1547A>T (p.Asn516Ile) c.2126A>T (p.Asn709Ile) c.2015A>T (p.Asn672Ile) c.1991A>T (p.Asn664Ile) n.2168A>T | |
12 | g.7209805C>A | CA383738558 | PEX5 | c.1683C>A (p.Asn561Lys) c.1572C>A (p.Asn524Lys) c.1659C>A (p.Asn553Lys) c.1746C>A (p.Asn582Lys) c.1728C>A (p.Asn576Lys) c.1635C>A (p.Asn545Lys) c.1791C>A (p.Asn597Lys) c.1680C>A (p.Asn560Lys) c.1434C>A (p.Asn478Lys) c.1674C>A (p.Asn558Lys) c.1617C>A (p.Asn539Lys) c.1548C>A (p.Asn516Lys) c.2127C>A (p.Asn709Lys) c.2016C>A (p.Asn672Lys) c.1992C>A (p.Asn664Lys) n.2169C>A | |
12 | g.7209805C= | CA2014448435 | PEX5 | c.1683C= (p.Asn561=) c.1572C= (p.Asn524=) c.1659C= (p.Asn553=) c.1746C= (p.Asn582=) c.1728C= (p.Asn576=) c.1635C= (p.Asn545=) c.1791C= (p.Asn597=) c.1680C= (p.Asn560=) c.1434C= (p.Asn478=) c.1674C= (p.Asn558=) c.1617C= (p.Asn539=) c.1548C= (p.Asn516=) c.2127C= (p.Asn709=) c.2016C= (p.Asn672=) c.1992C= (p.Asn664=) n.2169C= | |
12 | g.7209805C>G | CA383738561 | PEX5 | c.1683C>G (p.Asn561Lys) c.1572C>G (p.Asn524Lys) c.1659C>G (p.Asn553Lys) c.1746C>G (p.Asn582Lys) c.1728C>G (p.Asn576Lys) c.1635C>G (p.Asn545Lys) c.1791C>G (p.Asn597Lys) c.1680C>G (p.Asn560Lys) c.1434C>G (p.Asn478Lys) c.1674C>G (p.Asn558Lys) c.1617C>G (p.Asn539Lys) c.1548C>G (p.Asn516Lys) c.2127C>G (p.Asn709Lys) c.2016C>G (p.Asn672Lys) c.1992C>G (p.Asn664Lys) n.2169C>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.7209805C>T | CA478523443 | PEX5 | c.1683C>T (p.Asn561=) c.1572C>T (p.Asn524=) c.1659C>T (p.Asn553=) c.1746C>T (p.Asn582=) c.1728C>T (p.Asn576=) c.1635C>T (p.Asn545=) c.1791C>T (p.Asn597=) c.1680C>T (p.Asn560=) c.1434C>T (p.Asn478=) c.1674C>T (p.Asn558=) c.1617C>T (p.Asn539=) c.1548C>T (p.Asn516=) c.2127C>T (p.Asn709=) c.2016C>T (p.Asn672=) c.1992C>T (p.Asn664=) n.2169C>T | |
12 | g.7209806C>A | CA383738566 | PEX5 | c.1684C>A (p.Leu562Met) c.1573C>A (p.Leu525Met) c.1660C>A (p.Leu554Met) c.1747C>A (p.Leu583Met) c.1729C>A (p.Leu577Met) c.1636C>A (p.Leu546Met) c.1792C>A (p.Leu598Met) c.1681C>A (p.Leu561Met) c.1435C>A (p.Leu479Met) c.1675C>A (p.Leu559Met) c.1618C>A (p.Leu540Met) c.1549C>A (p.Leu517Met) c.2128C>A (p.Leu710Met) c.2017C>A (p.Leu673Met) c.1993C>A (p.Leu665Met) n.2170C>A | |
12 | g.7209806C= | CA2014448436 | PEX5 | c.1684C= (p.Leu562=) c.1573C= (p.Leu525=) c.1660C= (p.Leu554=) c.1747C= (p.Leu583=) c.1729C= (p.Leu577=) c.1636C= (p.Leu546=) c.1792C= (p.Leu598=) c.1681C= (p.Leu561=) c.1435C= (p.Leu479=) c.1675C= (p.Leu559=) c.1618C= (p.Leu540=) c.1549C= (p.Leu517=) c.2128C= (p.Leu710=) c.2017C= (p.Leu673=) c.1993C= (p.Leu665=) n.2170C= | |
12 | g.7209806C>G | CA383738572 | PEX5 | c.1684C>G (p.Leu562Val) c.1573C>G (p.Leu525Val) c.1660C>G (p.Leu554Val) c.1747C>G (p.Leu583Val) c.1729C>G (p.Leu577Val) c.1636C>G (p.Leu546Val) c.1792C>G (p.Leu598Val) c.1681C>G (p.Leu561Val) c.1435C>G (p.Leu479Val) c.1675C>G (p.Leu559Val) c.1618C>G (p.Leu540Val) c.1549C>G (p.Leu517Val) c.2128C>G (p.Leu710Val) c.2017C>G (p.Leu673Val) c.1993C>G (p.Leu665Val) n.2170C>G | ClinVar dbSNP gnomAD v4 |
12 | g.7209806C>T | CA478523446 | PEX5 | c.1684C>T (p.Leu562=) c.1573C>T (p.Leu525=) c.1660C>T (p.Leu554=) c.1747C>T (p.Leu583=) c.1729C>T (p.Leu577=) c.1636C>T (p.Leu546=) c.1792C>T (p.Leu598=) c.1681C>T (p.Leu561=) c.1435C>T (p.Leu479=) c.1675C>T (p.Leu559=) c.1618C>T (p.Leu540=) c.1549C>T (p.Leu517=) c.2128C>T (p.Leu710=) c.2017C>T (p.Leu673=) c.1993C>T (p.Leu665=) n.2170C>T | ClinVar |
12 | g.7209807T>A | CA383738574 | PEX5 | c.1685T>A (p.Leu562Gln) c.1574T>A (p.Leu525Gln) c.1661T>A (p.Leu554Gln) c.1748T>A (p.Leu583Gln) c.1730T>A (p.Leu577Gln) c.1637T>A (p.Leu546Gln) c.1793T>A (p.Leu598Gln) c.1682T>A (p.Leu561Gln) c.1436T>A (p.Leu479Gln) c.1676T>A (p.Leu559Gln) c.1619T>A (p.Leu540Gln) c.1550T>A (p.Leu517Gln) c.2129T>A (p.Leu710Gln) c.2018T>A (p.Leu673Gln) c.1994T>A (p.Leu665Gln) n.2171T>A | |
12 | g.7209807T>C | CA383738578 | PEX5 | c.1685T>C (p.Leu562Pro) c.1574T>C (p.Leu525Pro) c.1661T>C (p.Leu554Pro) c.1748T>C (p.Leu583Pro) c.1730T>C (p.Leu577Pro) c.1637T>C (p.Leu546Pro) c.1793T>C (p.Leu598Pro) c.1682T>C (p.Leu561Pro) c.1436T>C (p.Leu479Pro) c.1676T>C (p.Leu559Pro) c.1619T>C (p.Leu540Pro) c.1550T>C (p.Leu517Pro) c.2129T>C (p.Leu710Pro) c.2018T>C (p.Leu673Pro) c.1994T>C (p.Leu665Pro) n.2171T>C | |
12 | g.7209807T>G | CA383738581 | PEX5 | c.1685T>G (p.Leu562Arg) c.1574T>G (p.Leu525Arg) c.1661T>G (p.Leu554Arg) c.1748T>G (p.Leu583Arg) c.1730T>G (p.Leu577Arg) c.1637T>G (p.Leu546Arg) c.1793T>G (p.Leu598Arg) c.1682T>G (p.Leu561Arg) c.1436T>G (p.Leu479Arg) c.1676T>G (p.Leu559Arg) c.1619T>G (p.Leu540Arg) c.1550T>G (p.Leu517Arg) c.2129T>G (p.Leu710Arg) c.2018T>G (p.Leu673Arg) c.1994T>G (p.Leu665Arg) n.2171T>G | |
12 | g.7209808G>A | CA232477070 | PEX5 | c.1686G>A (p.Leu562=) c.1575G>A (p.Leu525=) c.1662G>A (p.Leu554=) c.1749G>A (p.Leu583=) c.1731G>A (p.Leu577=) c.1638G>A (p.Leu546=) c.1794G>A (p.Leu598=) c.1683G>A (p.Leu561=) c.1437G>A (p.Leu479=) c.1677G>A (p.Leu559=) c.1620G>A (p.Leu540=) c.1551G>A (p.Leu517=) c.2130G>A (p.Leu710=) c.2019G>A (p.Leu673=) c.1995G>A (p.Leu665=) n.2172G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.7209808G>C | CA478523449 | PEX5 | c.1686G>C (p.Leu562=) c.1575G>C (p.Leu525=) c.1662G>C (p.Leu554=) c.1749G>C (p.Leu583=) c.1731G>C (p.Leu577=) c.1638G>C (p.Leu546=) c.1794G>C (p.Leu598=) c.1683G>C (p.Leu561=) c.1437G>C (p.Leu479=) c.1677G>C (p.Leu559=) c.1620G>C (p.Leu540=) c.1551G>C (p.Leu517=) c.2130G>C (p.Leu710=) c.2019G>C (p.Leu673=) c.1995G>C (p.Leu665=) n.2172G>C | |
12 | g.7209808G= | CA2014448437 | PEX5 | c.1686G= (p.Leu562=) c.1575G= (p.Leu525=) c.1662G= (p.Leu554=) c.1749G= (p.Leu583=) c.1731G= (p.Leu577=) c.1638G= (p.Leu546=) c.1794G= (p.Leu598=) c.1683G= (p.Leu561=) c.1437G= (p.Leu479=) c.1677G= (p.Leu559=) c.1620G= (p.Leu540=) c.1551G= (p.Leu517=) c.2130G= (p.Leu710=) c.2019G= (p.Leu673=) c.1995G= (p.Leu665=) n.2172G= | |
12 | g.7209808G>T | CA478523448 | PEX5 | c.1686G>T (p.Leu562=) c.1575G>T (p.Leu525=) c.1662G>T (p.Leu554=) c.1749G>T (p.Leu583=) c.1731G>T (p.Leu577=) c.1638G>T (p.Leu546=) c.1794G>T (p.Leu598=) c.1683G>T (p.Leu561=) c.1437G>T (p.Leu479=) c.1677G>T (p.Leu559=) c.1620G>T (p.Leu540=) c.1551G>T (p.Leu517=) c.2130G>T (p.Leu710=) c.2019G>T (p.Leu673=) c.1995G>T (p.Leu665=) n.2172G>T | |
12 | g.7209809G>A | CA383738587 | PEX5 | c.1687G>A (p.Gly563Ser) c.1576G>A (p.Gly526Ser) c.1663G>A (p.Gly555Ser) c.1750G>A (p.Gly584Ser) c.1732G>A (p.Gly578Ser) c.1639G>A (p.Gly547Ser) c.1795G>A (p.Gly599Ser) c.1684G>A (p.Gly562Ser) c.1438G>A (p.Gly480Ser) c.1678G>A (p.Gly560Ser) c.1621G>A (p.Gly541Ser) c.1552G>A (p.Gly518Ser) c.2131G>A (p.Gly711Ser) c.2020G>A (p.Gly674Ser) c.1996G>A (p.Gly666Ser) n.2173G>A | |
12 | g.7209809G>C | CA383738594 | PEX5 | c.1687G>C (p.Gly563Arg) c.1576G>C (p.Gly526Arg) c.1663G>C (p.Gly555Arg) c.1750G>C (p.Gly584Arg) c.1732G>C (p.Gly578Arg) c.1639G>C (p.Gly547Arg) c.1795G>C (p.Gly599Arg) c.1684G>C (p.Gly562Arg) c.1438G>C (p.Gly480Arg) c.1678G>C (p.Gly560Arg) c.1621G>C (p.Gly541Arg) c.1552G>C (p.Gly518Arg) c.2131G>C (p.Gly711Arg) c.2020G>C (p.Gly674Arg) c.1996G>C (p.Gly666Arg) n.2173G>C | |
12 | g.7209809G>T | CA383738596 | PEX5 | c.1687G>T (p.Gly563Cys) c.1576G>T (p.Gly526Cys) c.1663G>T (p.Gly555Cys) c.1750G>T (p.Gly584Cys) c.1732G>T (p.Gly578Cys) c.1639G>T (p.Gly547Cys) c.1795G>T (p.Gly599Cys) c.1684G>T (p.Gly562Cys) c.1438G>T (p.Gly480Cys) c.1678G>T (p.Gly560Cys) c.1621G>T (p.Gly541Cys) c.1552G>T (p.Gly518Cys) c.2131G>T (p.Gly711Cys) c.2020G>T (p.Gly674Cys) c.1996G>T (p.Gly666Cys) n.2173G>T | ClinVar |
12 | g.7209810G>A | CA383738600 | PEX5 | c.1688G>A (p.Gly563Asp) c.1577G>A (p.Gly526Asp) c.1664G>A (p.Gly555Asp) c.1751G>A (p.Gly584Asp) c.1733G>A (p.Gly578Asp) c.1640G>A (p.Gly547Asp) c.1796G>A (p.Gly599Asp) c.1685G>A (p.Gly562Asp) c.1439G>A (p.Gly480Asp) c.1679G>A (p.Gly560Asp) c.1622G>A (p.Gly541Asp) c.1553G>A (p.Gly518Asp) c.2132G>A (p.Gly711Asp) c.2021G>A (p.Gly674Asp) c.1997G>A (p.Gly666Asp) n.2174G>A | gnomAD v4 |
12 | g.7209810G>C | CA383738617 | PEX5 | c.1688G>C (p.Gly563Ala) c.1577G>C (p.Gly526Ala) c.1664G>C (p.Gly555Ala) c.1751G>C (p.Gly584Ala) c.1733G>C (p.Gly578Ala) c.1640G>C (p.Gly547Ala) c.1796G>C (p.Gly599Ala) c.1685G>C (p.Gly562Ala) c.1439G>C (p.Gly480Ala) c.1679G>C (p.Gly560Ala) c.1622G>C (p.Gly541Ala) c.1553G>C (p.Gly518Ala) c.2132G>C (p.Gly711Ala) c.2021G>C (p.Gly674Ala) c.1997G>C (p.Gly666Ala) n.2174G>C | |
12 | g.7209810G>T | CA383738619 | PEX5 | c.1688G>T (p.Gly563Val) c.1577G>T (p.Gly526Val) c.1664G>T (p.Gly555Val) c.1751G>T (p.Gly584Val) c.1733G>T (p.Gly578Val) c.1640G>T (p.Gly547Val) c.1796G>T (p.Gly599Val) c.1685G>T (p.Gly562Val) c.1439G>T (p.Gly480Val) c.1679G>T (p.Gly560Val) c.1622G>T (p.Gly541Val) c.1553G>T (p.Gly518Val) c.2132G>T (p.Gly711Val) c.2021G>T (p.Gly674Val) c.1997G>T (p.Gly666Val) n.2174G>T | gnomAD v4 |
12 | g.7209811C>A | CA478523453 | PEX5 | c.1689C>A (p.Gly563=) c.1578C>A (p.Gly526=) c.1665C>A (p.Gly555=) c.1752C>A (p.Gly584=) c.1734C>A (p.Gly578=) c.1641C>A (p.Gly547=) c.1797C>A (p.Gly599=) c.1686C>A (p.Gly562=) c.1440C>A (p.Gly480=) c.1680C>A (p.Gly560=) c.1623C>A (p.Gly541=) c.1554C>A (p.Gly518=) c.2133C>A (p.Gly711=) c.2022C>A (p.Gly674=) c.1998C>A (p.Gly666=) n.2175C>A | |
12 | g.7209811C= | CA2014448438 | PEX5 | c.1689C= (p.Gly563=) c.1578C= (p.Gly526=) c.1665C= (p.Gly555=) c.1752C= (p.Gly584=) c.1734C= (p.Gly578=) c.1641C= (p.Gly547=) c.1797C= (p.Gly599=) c.1686C= (p.Gly562=) c.1440C= (p.Gly480=) c.1680C= (p.Gly560=) c.1623C= (p.Gly541=) c.1554C= (p.Gly518=) c.2133C= (p.Gly711=) c.2022C= (p.Gly674=) c.1998C= (p.Gly666=) n.2175C= | |
12 | g.7209811C>G | CA478523454 | PEX5 | c.1689C>G (p.Gly563=) c.1578C>G (p.Gly526=) c.1665C>G (p.Gly555=) c.1752C>G (p.Gly584=) c.1734C>G (p.Gly578=) c.1641C>G (p.Gly547=) c.1797C>G (p.Gly599=) c.1686C>G (p.Gly562=) c.1440C>G (p.Gly480=) c.1680C>G (p.Gly560=) c.1623C>G (p.Gly541=) c.1554C>G (p.Gly518=) c.2133C>G (p.Gly711=) c.2022C>G (p.Gly674=) c.1998C>G (p.Gly666=) n.2175C>G | |
12 | g.7209811C>T | CA6426545 | PEX5 | c.1689C>T (p.Gly563=) c.1578C>T (p.Gly526=) c.1665C>T (p.Gly555=) c.1752C>T (p.Gly584=) c.1734C>T (p.Gly578=) c.1641C>T (p.Gly547=) c.1797C>T (p.Gly599=) c.1686C>T (p.Gly562=) c.1440C>T (p.Gly480=) c.1680C>T (p.Gly560=) c.1623C>T (p.Gly541=) c.1554C>T (p.Gly518=) c.2133C>T (p.Gly711=) c.2022C>T (p.Gly674=) c.1998C>T (p.Gly666=) n.2175C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.7209812A= | CA2014448439 | PEX5 | c.1690A= (p.Ile564=) c.1579A= (p.Ile527=) c.1666A= (p.Ile556=) c.1753A= (p.Ile585=) c.1735A= (p.Ile579=) c.1642A= (p.Ile548=) c.1798A= (p.Ile600=) c.1687A= (p.Ile563=) c.1441A= (p.Ile481=) c.1681A= (p.Ile561=) c.1624A= (p.Ile542=) c.1555A= (p.Ile519=) c.2134A= (p.Ile712=) c.2023A= (p.Ile675=) c.1999A= (p.Ile667=) n.2176A= | |
12 | g.7209812A>C | CA383738632 | PEX5 | c.1690A>C (p.Ile564Leu) c.1579A>C (p.Ile527Leu) c.1666A>C (p.Ile556Leu) c.1753A>C (p.Ile585Leu) c.1735A>C (p.Ile579Leu) c.1642A>C (p.Ile548Leu) c.1798A>C (p.Ile600Leu) c.1687A>C (p.Ile563Leu) c.1441A>C (p.Ile481Leu) c.1681A>C (p.Ile561Leu) c.1624A>C (p.Ile542Leu) c.1555A>C (p.Ile519Leu) c.2134A>C (p.Ile712Leu) c.2023A>C (p.Ile675Leu) c.1999A>C (p.Ile667Leu) n.2176A>C | |
12 | g.7209812A>G | CA6426546 | PEX5 | c.1690A>G (p.Ile564Val) c.1579A>G (p.Ile527Val) c.1666A>G (p.Ile556Val) c.1753A>G (p.Ile585Val) c.1735A>G (p.Ile579Val) c.1642A>G (p.Ile548Val) c.1798A>G (p.Ile600Val) c.1687A>G (p.Ile563Val) c.1441A>G (p.Ile481Val) c.1681A>G (p.Ile561Val) c.1624A>G (p.Ile542Val) c.1555A>G (p.Ile519Val) c.2134A>G (p.Ile712Val) c.2023A>G (p.Ile675Val) c.1999A>G (p.Ile667Val) n.2176A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.7209812A>T | CA383738633 | PEX5 | c.1690A>T (p.Ile564Phe) c.1579A>T (p.Ile527Phe) c.1666A>T (p.Ile556Phe) c.1753A>T (p.Ile585Phe) c.1735A>T (p.Ile579Phe) c.1642A>T (p.Ile548Phe) c.1798A>T (p.Ile600Phe) c.1687A>T (p.Ile563Phe) c.1441A>T (p.Ile481Phe) c.1681A>T (p.Ile561Phe) c.1624A>T (p.Ile542Phe) c.1555A>T (p.Ile519Phe) c.2134A>T (p.Ile712Phe) c.2023A>T (p.Ile675Phe) c.1999A>T (p.Ile667Phe) n.2176A>T | |
12 | g.7209813T>A | CA383738644 | PEX5 | c.1691T>A (p.Ile564Asn) c.1580T>A (p.Ile527Asn) c.1667T>A (p.Ile556Asn) c.1754T>A (p.Ile585Asn) c.1736T>A (p.Ile579Asn) c.1643T>A (p.Ile548Asn) c.1799T>A (p.Ile600Asn) c.1688T>A (p.Ile563Asn) c.1442T>A (p.Ile481Asn) c.1682T>A (p.Ile561Asn) c.1625T>A (p.Ile542Asn) c.1556T>A (p.Ile519Asn) c.2135T>A (p.Ile712Asn) c.2024T>A (p.Ile675Asn) c.2000T>A (p.Ile667Asn) n.2177T>A | dbSNP |
12 | g.7209813T>C | CA383738647 | PEX5 | c.1691T>C (p.Ile564Thr) c.1580T>C (p.Ile527Thr) c.1667T>C (p.Ile556Thr) c.1754T>C (p.Ile585Thr) c.1736T>C (p.Ile579Thr) c.1643T>C (p.Ile548Thr) c.1799T>C (p.Ile600Thr) c.1688T>C (p.Ile563Thr) c.1442T>C (p.Ile481Thr) c.1682T>C (p.Ile561Thr) c.1625T>C (p.Ile542Thr) c.1556T>C (p.Ile519Thr) c.2135T>C (p.Ile712Thr) c.2024T>C (p.Ile675Thr) c.2000T>C (p.Ile667Thr) n.2177T>C | ClinVar dbSNP |
12 | g.7209813T>G | CA383738651 | PEX5 | c.1691T>G (p.Ile564Ser) c.1580T>G (p.Ile527Ser) c.1667T>G (p.Ile556Ser) c.1754T>G (p.Ile585Ser) c.1736T>G (p.Ile579Ser) c.1643T>G (p.Ile548Ser) c.1799T>G (p.Ile600Ser) c.1688T>G (p.Ile563Ser) c.1442T>G (p.Ile481Ser) c.1682T>G (p.Ile561Ser) c.1625T>G (p.Ile542Ser) c.1556T>G (p.Ile519Ser) c.2135T>G (p.Ile712Ser) c.2024T>G (p.Ile675Ser) c.2000T>G (p.Ile667Ser) n.2177T>G | |
12 | g.7209813T= | CA2014448440 | PEX5 | c.1691T= (p.Ile564=) c.1580T= (p.Ile527=) c.1667T= (p.Ile556=) c.1754T= (p.Ile585=) c.1736T= (p.Ile579=) c.1643T= (p.Ile548=) c.1799T= (p.Ile600=) c.1688T= (p.Ile563=) c.1442T= (p.Ile481=) c.1682T= (p.Ile561=) c.1625T= (p.Ile542=) c.1556T= (p.Ile519=) c.2135T= (p.Ile712=) c.2024T= (p.Ile675=) c.2000T= (p.Ile667=) n.2177T= | |
12 | g.7209814C>A | CA478523461 | PEX5 | c.1692C>A (p.Ile564=) c.1581C>A (p.Ile527=) c.1668C>A (p.Ile556=) c.1755C>A (p.Ile585=) c.1737C>A (p.Ile579=) c.1644C>A (p.Ile548=) c.1800C>A (p.Ile600=) c.1689C>A (p.Ile563=) c.1443C>A (p.Ile481=) c.1683C>A (p.Ile561=) c.1626C>A (p.Ile542=) c.1557C>A (p.Ile519=) c.2136C>A (p.Ile712=) c.2025C>A (p.Ile675=) c.2001C>A (p.Ile667=) n.2178C>A | |
12 | g.7209814C= | CA2014448441 | PEX5 | c.1692C= (p.Ile564=) c.1581C= (p.Ile527=) c.1668C= (p.Ile556=) c.1755C= (p.Ile585=) c.1737C= (p.Ile579=) c.1644C= (p.Ile548=) c.1800C= (p.Ile600=) c.1689C= (p.Ile563=) c.1443C= (p.Ile481=) c.1683C= (p.Ile561=) c.1626C= (p.Ile542=) c.1557C= (p.Ile519=) c.2136C= (p.Ile712=) c.2025C= (p.Ile675=) c.2001C= (p.Ile667=) n.2178C= | |
12 | g.7209814C>G | CA383738656 | PEX5 | c.1692C>G (p.Ile564Met) c.1581C>G (p.Ile527Met) c.1668C>G (p.Ile556Met) c.1755C>G (p.Ile585Met) c.1737C>G (p.Ile579Met) c.1644C>G (p.Ile548Met) c.1800C>G (p.Ile600Met) c.1689C>G (p.Ile563Met) c.1443C>G (p.Ile481Met) c.1683C>G (p.Ile561Met) c.1626C>G (p.Ile542Met) c.1557C>G (p.Ile519Met) c.2136C>G (p.Ile712Met) c.2025C>G (p.Ile675Met) c.2001C>G (p.Ile667Met) n.2178C>G | |
12 | g.7209814C>T | CA478523462 | PEX5 | c.1692C>T (p.Ile564=) c.1581C>T (p.Ile527=) c.1668C>T (p.Ile556=) c.1755C>T (p.Ile585=) c.1737C>T (p.Ile579=) c.1644C>T (p.Ile548=) c.1800C>T (p.Ile600=) c.1689C>T (p.Ile563=) c.1443C>T (p.Ile481=) c.1683C>T (p.Ile561=) c.1626C>T (p.Ile542=) c.1557C>T (p.Ile519=) c.2136C>T (p.Ile712=) c.2025C>T (p.Ile675=) c.2001C>T (p.Ile667=) n.2178C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.7209815A>C | CA383738659 | PEX5 | c.1693A>C (p.Ser565Arg) c.1582A>C (p.Ser528Arg) c.1669A>C (p.Ser557Arg) c.1756A>C (p.Ser586Arg) c.1738A>C (p.Ser580Arg) c.1645A>C (p.Ser549Arg) c.1801A>C (p.Ser601Arg) c.1690A>C (p.Ser564Arg) c.1444A>C (p.Ser482Arg) c.1684A>C (p.Ser562Arg) c.1627A>C (p.Ser543Arg) c.1558A>C (p.Ser520Arg) c.2137A>C (p.Ser713Arg) c.2026A>C (p.Ser676Arg) c.2002A>C (p.Ser668Arg) n.2179A>C | |
12 | g.7209815A>G | CA383738663 | PEX5 | c.1693A>G (p.Ser565Gly) c.1582A>G (p.Ser528Gly) c.1669A>G (p.Ser557Gly) c.1756A>G (p.Ser586Gly) c.1738A>G (p.Ser580Gly) c.1645A>G (p.Ser549Gly) c.1801A>G (p.Ser601Gly) c.1690A>G (p.Ser564Gly) c.1444A>G (p.Ser482Gly) c.1684A>G (p.Ser562Gly) c.1627A>G (p.Ser543Gly) c.1558A>G (p.Ser520Gly) c.2137A>G (p.Ser713Gly) c.2026A>G (p.Ser676Gly) c.2002A>G (p.Ser668Gly) n.2179A>G | |
12 | g.7209815A>T | CA383738664 | PEX5 | c.1693A>T (p.Ser565Cys) c.1582A>T (p.Ser528Cys) c.1669A>T (p.Ser557Cys) c.1756A>T (p.Ser586Cys) c.1738A>T (p.Ser580Cys) c.1645A>T (p.Ser549Cys) c.1801A>T (p.Ser601Cys) c.1690A>T (p.Ser564Cys) c.1444A>T (p.Ser482Cys) c.1684A>T (p.Ser562Cys) c.1627A>T (p.Ser543Cys) c.1558A>T (p.Ser520Cys) c.2137A>T (p.Ser713Cys) c.2026A>T (p.Ser676Cys) c.2002A>T (p.Ser668Cys) n.2179A>T | |
12 | g.7209816G>A | CA383738665 | PEX5 | c.1694G>A (p.Ser565Asn) c.1583G>A (p.Ser528Asn) c.1670G>A (p.Ser557Asn) c.1757G>A (p.Ser586Asn) c.1739G>A (p.Ser580Asn) c.1646G>A (p.Ser549Asn) c.1802G>A (p.Ser601Asn) c.1691G>A (p.Ser564Asn) c.1445G>A (p.Ser482Asn) c.1685G>A (p.Ser562Asn) c.1628G>A (p.Ser543Asn) c.1559G>A (p.Ser520Asn) c.2138G>A (p.Ser713Asn) c.2027G>A (p.Ser676Asn) c.2003G>A (p.Ser668Asn) n.2180G>A | |
12 | g.7209816G>C | CA383738666 | PEX5 | c.1694G>C (p.Ser565Thr) c.1583G>C (p.Ser528Thr) c.1670G>C (p.Ser557Thr) c.1757G>C (p.Ser586Thr) c.1739G>C (p.Ser580Thr) c.1646G>C (p.Ser549Thr) c.1802G>C (p.Ser601Thr) c.1691G>C (p.Ser564Thr) c.1445G>C (p.Ser482Thr) c.1685G>C (p.Ser562Thr) c.1628G>C (p.Ser543Thr) c.1559G>C (p.Ser520Thr) c.2138G>C (p.Ser713Thr) c.2027G>C (p.Ser676Thr) c.2003G>C (p.Ser668Thr) n.2180G>C | |
12 | g.7209816G>T | CA383738667 | PEX5 | c.1694G>T (p.Ser565Ile) c.1583G>T (p.Ser528Ile) c.1670G>T (p.Ser557Ile) c.1757G>T (p.Ser586Ile) c.1739G>T (p.Ser580Ile) c.1646G>T (p.Ser549Ile) c.1802G>T (p.Ser601Ile) c.1691G>T (p.Ser564Ile) c.1445G>T (p.Ser482Ile) c.1685G>T (p.Ser562Ile) c.1628G>T (p.Ser543Ile) c.1559G>T (p.Ser520Ile) c.2138G>T (p.Ser713Ile) c.2027G>T (p.Ser676Ile) c.2003G>T (p.Ser668Ile) n.2180G>T | |
12 | g.7209817C>A | CA383738671 | PEX5 | c.1695C>A (p.Ser565Arg) c.1584C>A (p.Ser528Arg) c.1671C>A (p.Ser557Arg) c.1758C>A (p.Ser586Arg) c.1740C>A (p.Ser580Arg) c.1647C>A (p.Ser549Arg) c.1803C>A (p.Ser601Arg) c.1692C>A (p.Ser564Arg) c.1446C>A (p.Ser482Arg) c.1686C>A (p.Ser562Arg) c.1629C>A (p.Ser543Arg) c.1560C>A (p.Ser520Arg) c.2139C>A (p.Ser713Arg) c.2028C>A (p.Ser676Arg) c.2004C>A (p.Ser668Arg) n.2181C>A | |
12 | g.7209817C= | CA2014448442 | PEX5 | c.1695C= (p.Ser565=) c.1584C= (p.Ser528=) c.1671C= (p.Ser557=) c.1758C= (p.Ser586=) c.1740C= (p.Ser580=) c.1647C= (p.Ser549=) c.1803C= (p.Ser601=) c.1692C= (p.Ser564=) c.1446C= (p.Ser482=) c.1686C= (p.Ser562=) c.1629C= (p.Ser543=) c.1560C= (p.Ser520=) c.2139C= (p.Ser713=) c.2028C= (p.Ser676=) c.2004C= (p.Ser668=) n.2181C= | |
12 | g.7209817C>G | CA383738673 | PEX5 | c.1695C>G (p.Ser565Arg) c.1584C>G (p.Ser528Arg) c.1671C>G (p.Ser557Arg) c.1758C>G (p.Ser586Arg) c.1740C>G (p.Ser580Arg) c.1647C>G (p.Ser549Arg) c.1803C>G (p.Ser601Arg) c.1692C>G (p.Ser564Arg) c.1446C>G (p.Ser482Arg) c.1686C>G (p.Ser562Arg) c.1629C>G (p.Ser543Arg) c.1560C>G (p.Ser520Arg) c.2139C>G (p.Ser713Arg) c.2028C>G (p.Ser676Arg) c.2004C>G (p.Ser668Arg) n.2181C>G | |
12 | g.7209817C>T | CA6426547 | PEX5 | c.1695C>T (p.Ser565=) c.1584C>T (p.Ser528=) c.1671C>T (p.Ser557=) c.1758C>T (p.Ser586=) c.1740C>T (p.Ser580=) c.1647C>T (p.Ser549=) c.1803C>T (p.Ser601=) c.1692C>T (p.Ser564=) c.1446C>T (p.Ser482=) c.1686C>T (p.Ser562=) c.1629C>T (p.Ser543=) c.1560C>T (p.Ser520=) c.2139C>T (p.Ser713=) c.2028C>T (p.Ser676=) c.2004C>T (p.Ser668=) n.2181C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.7209818T>A | CA383738677 | PEX5 | c.1696T>A (p.Cys566Ser) c.1585T>A (p.Cys529Ser) c.1672T>A (p.Cys558Ser) c.1759T>A (p.Cys587Ser) c.1741T>A (p.Cys581Ser) c.1648T>A (p.Cys550Ser) c.1804T>A (p.Cys602Ser) c.1693T>A (p.Cys565Ser) c.1447T>A (p.Cys483Ser) c.1687T>A (p.Cys563Ser) c.1630T>A (p.Cys544Ser) c.1561T>A (p.Cys521Ser) c.2140T>A (p.Cys714Ser) c.2029T>A (p.Cys677Ser) c.2005T>A (p.Cys669Ser) n.2182T>A | |
12 | g.7209818T>C | CA383738681 | PEX5 | c.1696T>C (p.Cys566Arg) c.1585T>C (p.Cys529Arg) c.1672T>C (p.Cys558Arg) c.1759T>C (p.Cys587Arg) c.1741T>C (p.Cys581Arg) c.1648T>C (p.Cys550Arg) c.1804T>C (p.Cys602Arg) c.1693T>C (p.Cys565Arg) c.1447T>C (p.Cys483Arg) c.1687T>C (p.Cys563Arg) c.1630T>C (p.Cys544Arg) c.1561T>C (p.Cys521Arg) c.2140T>C (p.Cys714Arg) c.2029T>C (p.Cys677Arg) c.2005T>C (p.Cys669Arg) n.2182T>C | |
12 | g.7209818T>G | CA383738678 | PEX5 | c.1696T>G (p.Cys566Gly) c.1585T>G (p.Cys529Gly) c.1672T>G (p.Cys558Gly) c.1759T>G (p.Cys587Gly) c.1741T>G (p.Cys581Gly) c.1648T>G (p.Cys550Gly) c.1804T>G (p.Cys602Gly) c.1693T>G (p.Cys565Gly) c.1447T>G (p.Cys483Gly) c.1687T>G (p.Cys563Gly) c.1630T>G (p.Cys544Gly) c.1561T>G (p.Cys521Gly) c.2140T>G (p.Cys714Gly) c.2029T>G (p.Cys677Gly) c.2005T>G (p.Cys669Gly) n.2182T>G | |
12 | g.7209819G>A | CA383738684 | PEX5 | c.1697G>A (p.Cys566Tyr) c.1586G>A (p.Cys529Tyr) c.1673G>A (p.Cys558Tyr) c.1760G>A (p.Cys587Tyr) c.1742G>A (p.Cys581Tyr) c.1649G>A (p.Cys550Tyr) c.1805G>A (p.Cys602Tyr) c.1694G>A (p.Cys565Tyr) c.1448G>A (p.Cys483Tyr) c.1688G>A (p.Cys563Tyr) c.1631G>A (p.Cys544Tyr) c.1562G>A (p.Cys521Tyr) c.2141G>A (p.Cys714Tyr) c.2030G>A (p.Cys677Tyr) c.2006G>A (p.Cys669Tyr) n.2183G>A | |
12 | g.7209819G>C | CA383738689 | PEX5 | c.1697G>C (p.Cys566Ser) c.1586G>C (p.Cys529Ser) c.1673G>C (p.Cys558Ser) c.1760G>C (p.Cys587Ser) c.1742G>C (p.Cys581Ser) c.1649G>C (p.Cys550Ser) c.1805G>C (p.Cys602Ser) c.1694G>C (p.Cys565Ser) c.1448G>C (p.Cys483Ser) c.1688G>C (p.Cys563Ser) c.1631G>C (p.Cys544Ser) c.1562G>C (p.Cys521Ser) c.2141G>C (p.Cys714Ser) c.2030G>C (p.Cys677Ser) c.2006G>C (p.Cys669Ser) n.2183G>C | |
12 | g.7209819G>T | CA383738693 | PEX5 | c.1697G>T (p.Cys566Phe) c.1586G>T (p.Cys529Phe) c.1673G>T (p.Cys558Phe) c.1760G>T (p.Cys587Phe) c.1742G>T (p.Cys581Phe) c.1649G>T (p.Cys550Phe) c.1805G>T (p.Cys602Phe) c.1694G>T (p.Cys565Phe) c.1448G>T (p.Cys483Phe) c.1688G>T (p.Cys563Phe) c.1631G>T (p.Cys544Phe) c.1562G>T (p.Cys521Phe) c.2141G>T (p.Cys714Phe) c.2030G>T (p.Cys677Phe) c.2006G>T (p.Cys669Phe) n.2183G>T | |
12 | g.7209820C>A | CA383738695 | PEX5 | c.1698C>A (p.Cys566Ter) c.1587C>A (p.Cys529Ter) c.1674C>A (p.Cys558Ter) c.1761C>A (p.Cys587Ter) c.1743C>A (p.Cys581Ter) c.1650C>A (p.Cys550Ter) c.1806C>A (p.Cys602Ter) c.1695C>A (p.Cys565Ter) c.1449C>A (p.Cys483Ter) c.1689C>A (p.Cys563Ter) c.1632C>A (p.Cys544Ter) c.1563C>A (p.Cys521Ter) c.2142C>A (p.Cys714Ter) c.2031C>A (p.Cys677Ter) c.2007C>A (p.Cys669Ter) n.2184C>A | |
12 | g.7209820C>G | CA383738697 | PEX5 | c.1698C>G (p.Cys566Trp) c.1587C>G (p.Cys529Trp) c.1674C>G (p.Cys558Trp) c.1761C>G (p.Cys587Trp) c.1743C>G (p.Cys581Trp) c.1650C>G (p.Cys550Trp) c.1806C>G (p.Cys602Trp) c.1695C>G (p.Cys565Trp) c.1449C>G (p.Cys483Trp) c.1689C>G (p.Cys563Trp) c.1632C>G (p.Cys544Trp) c.1563C>G (p.Cys521Trp) c.2142C>G (p.Cys714Trp) c.2031C>G (p.Cys677Trp) c.2007C>G (p.Cys669Trp) n.2184C>G | |
12 | g.7209820C>T | CA478523472 | PEX5 | c.1698C>T (p.Cys566=) c.1587C>T (p.Cys529=) c.1674C>T (p.Cys558=) c.1761C>T (p.Cys587=) c.1743C>T (p.Cys581=) c.1650C>T (p.Cys550=) c.1806C>T (p.Cys602=) c.1695C>T (p.Cys565=) c.1449C>T (p.Cys483=) c.1689C>T (p.Cys563=) c.1632C>T (p.Cys544=) c.1563C>T (p.Cys521=) c.2142C>T (p.Cys714=) c.2031C>T (p.Cys677=) c.2007C>T (p.Cys669=) n.2184C>T | gnomAD v4 |
12 | g.7209820dup | CA2575066174 | PEX5 | c.1698dup (p.Ile567HisfsTer29) c.1587dup (p.Ile530HisfsTer29) c.1674dup (p.Ile559HisfsTer29) c.1761dup (p.Ile588HisfsTer29) c.1743dup (p.Ile582HisfsTer29) c.1650dup (p.Ile551HisfsTer29) c.1806dup (p.Ile603HisfsTer29) c.1695dup (p.Ile566HisfsTer29) c.1449dup (p.Ile484HisfsTer29) c.1689dup (p.Ile564HisfsTer29) c.1632dup (p.Ile545HisfsTer29) c.1563dup (p.Ile522HisfsTer29) c.2142dup (p.Ile715HisfsTer29) c.2031dup (p.Ile678HisfsTer29) c.2007dup (p.Ile670HisfsTer29) n.2184dup | |
12 | g.7209821A= | CA2014448443 | PEX5 | c.1699A= (p.Ile567=) c.1588A= (p.Ile530=) c.1675A= (p.Ile559=) c.1762A= (p.Ile588=) c.1744A= (p.Ile582=) c.1651A= (p.Ile551=) c.1807A= (p.Ile603=) c.1696A= (p.Ile566=) c.1450A= (p.Ile484=) c.1690A= (p.Ile564=) c.1633A= (p.Ile545=) c.1564A= (p.Ile522=) c.2143A= (p.Ile715=) c.2032A= (p.Ile678=) c.2008A= (p.Ile670=) n.2185A= | |
12 | g.7209821A>C | CA383738700 | PEX5 | c.1699A>C (p.Ile567Leu) c.1588A>C (p.Ile530Leu) c.1675A>C (p.Ile559Leu) c.1762A>C (p.Ile588Leu) c.1744A>C (p.Ile582Leu) c.1651A>C (p.Ile551Leu) c.1807A>C (p.Ile603Leu) c.1696A>C (p.Ile566Leu) c.1450A>C (p.Ile484Leu) c.1690A>C (p.Ile564Leu) c.1633A>C (p.Ile545Leu) c.1564A>C (p.Ile522Leu) c.2143A>C (p.Ile715Leu) c.2032A>C (p.Ile678Leu) c.2008A>C (p.Ile670Leu) n.2185A>C | dbSNP |
12 | g.7209821A>G | CA383738703 | PEX5 | c.1699A>G (p.Ile567Val) c.1588A>G (p.Ile530Val) c.1675A>G (p.Ile559Val) c.1762A>G (p.Ile588Val) c.1744A>G (p.Ile582Val) c.1651A>G (p.Ile551Val) c.1807A>G (p.Ile603Val) c.1696A>G (p.Ile566Val) c.1450A>G (p.Ile484Val) c.1690A>G (p.Ile564Val) c.1633A>G (p.Ile545Val) c.1564A>G (p.Ile522Val) c.2143A>G (p.Ile715Val) c.2032A>G (p.Ile678Val) c.2008A>G (p.Ile670Val) n.2185A>G | gnomAD v4 |
12 | g.7209821A>T | CA383738707 | PEX5 | c.1699A>T (p.Ile567Phe) c.1588A>T (p.Ile530Phe) c.1675A>T (p.Ile559Phe) c.1762A>T (p.Ile588Phe) c.1744A>T (p.Ile582Phe) c.1651A>T (p.Ile551Phe) c.1807A>T (p.Ile603Phe) c.1696A>T (p.Ile566Phe) c.1450A>T (p.Ile484Phe) c.1690A>T (p.Ile564Phe) c.1633A>T (p.Ile545Phe) c.1564A>T (p.Ile522Phe) c.2143A>T (p.Ile715Phe) c.2032A>T (p.Ile678Phe) c.2008A>T (p.Ile670Phe) n.2185A>T | |
12 | g.7209822T>A | CA383738709 | PEX5 | c.1700T>A (p.Ile567Asn) c.1589T>A (p.Ile530Asn) c.1676T>A (p.Ile559Asn) c.1763T>A (p.Ile588Asn) c.1745T>A (p.Ile582Asn) c.1652T>A (p.Ile551Asn) c.1808T>A (p.Ile603Asn) c.1697T>A (p.Ile566Asn) c.1451T>A (p.Ile484Asn) c.1691T>A (p.Ile564Asn) c.1634T>A (p.Ile545Asn) c.1565T>A (p.Ile522Asn) c.2144T>A (p.Ile715Asn) c.2033T>A (p.Ile678Asn) c.2009T>A (p.Ile670Asn) n.2186T>A | |
12 | g.7209822T>C | CA383738711 | PEX5 | c.1700T>C (p.Ile567Thr) c.1589T>C (p.Ile530Thr) c.1676T>C (p.Ile559Thr) c.1763T>C (p.Ile588Thr) c.1745T>C (p.Ile582Thr) c.1652T>C (p.Ile551Thr) c.1808T>C (p.Ile603Thr) c.1697T>C (p.Ile566Thr) c.1451T>C (p.Ile484Thr) c.1691T>C (p.Ile564Thr) c.1634T>C (p.Ile545Thr) c.1565T>C (p.Ile522Thr) c.2144T>C (p.Ile715Thr) c.2033T>C (p.Ile678Thr) c.2009T>C (p.Ile670Thr) n.2186T>C | |
12 | g.7209822T>G | CA383738719 | PEX5 | c.1700T>G (p.Ile567Ser) c.1589T>G (p.Ile530Ser) c.1676T>G (p.Ile559Ser) c.1763T>G (p.Ile588Ser) c.1745T>G (p.Ile582Ser) c.1652T>G (p.Ile551Ser) c.1808T>G (p.Ile603Ser) c.1697T>G (p.Ile566Ser) c.1451T>G (p.Ile484Ser) c.1691T>G (p.Ile564Ser) c.1634T>G (p.Ile545Ser) c.1565T>G (p.Ile522Ser) c.2144T>G (p.Ile715Ser) c.2033T>G (p.Ile678Ser) c.2009T>G (p.Ile670Ser) n.2186T>G | gnomAD v4 |
12 | g.7209822T= | CA2014448444 | PEX5 | c.1700T= (p.Ile567=) c.1589T= (p.Ile530=) c.1676T= (p.Ile559=) c.1763T= (p.Ile588=) c.1745T= (p.Ile582=) c.1652T= (p.Ile551=) c.1808T= (p.Ile603=) c.1697T= (p.Ile566=) c.1451T= (p.Ile484=) c.1691T= (p.Ile564=) c.1634T= (p.Ile545=) c.1565T= (p.Ile522=) c.2144T= (p.Ile715=) c.2033T= (p.Ile678=) c.2009T= (p.Ile670=) n.2186T= | |
12 | g.7209823_7209852dup | CA603488600 | PEX5 | c.1701_1718+12dup c.1590_1607+12dup c.1677_1694+12dup c.1764_1781+12dup c.1746_1763+12dup c.1653_1670+12dup c.1809_1826+12dup c.1698_1715+12dup c.1452_1469+12dup c.1692_1709+12dup c.1635_1652+12dup c.1566_1583+12dup c.2145_2162+12dup c.2034_2051+12dup c.2010_2027+12dup n.2187_2204+12dup | dbSNP gnomAD v2 gnomAD v4 |
12 | g.7209823_7209855dup | CA944417343 | PEX5 | c.1701_1718+15dup c.1590_1607+15dup c.1677_1694+15dup c.1764_1781+15dup c.1746_1763+15dup c.1653_1670+15dup c.1809_1826+15dup c.1698_1715+15dup c.1452_1469+15dup c.1692_1709+15dup c.1635_1652+15dup c.1566_1583+15dup c.2145_2162+15dup c.2034_2051+15dup c.2010_2027+15dup n.2187_2204+15dup | gnomAD v3 gnomAD v4 |
12 | g.7209823C>A | CA478523474 | PEX5 | c.1701C>A (p.Ile567=) c.1590C>A (p.Ile530=) c.1677C>A (p.Ile559=) c.1764C>A (p.Ile588=) c.1746C>A (p.Ile582=) c.1653C>A (p.Ile551=) c.1809C>A (p.Ile603=) c.1698C>A (p.Ile566=) c.1452C>A (p.Ile484=) c.1692C>A (p.Ile564=) c.1635C>A (p.Ile545=) c.1566C>A (p.Ile522=) c.2145C>A (p.Ile715=) c.2034C>A (p.Ile678=) c.2010C>A (p.Ile670=) n.2187C>A | |
12 | g.7209823C= | CA2014448445 | PEX5 | c.1701C= (p.Ile567=) c.1590C= (p.Ile530=) c.1677C= (p.Ile559=) c.1764C= (p.Ile588=) c.1746C= (p.Ile582=) c.1653C= (p.Ile551=) c.1809C= (p.Ile603=) c.1698C= (p.Ile566=) c.1452C= (p.Ile484=) c.1692C= (p.Ile564=) c.1635C= (p.Ile545=) c.1566C= (p.Ile522=) c.2145C= (p.Ile715=) c.2034C= (p.Ile678=) c.2010C= (p.Ile670=) n.2187C= | |
12 | g.7209823C>G | CA383738721 | PEX5 | c.1701C>G (p.Ile567Met) c.1590C>G (p.Ile530Met) c.1677C>G (p.Ile559Met) c.1764C>G (p.Ile588Met) c.1746C>G (p.Ile582Met) c.1653C>G (p.Ile551Met) c.1809C>G (p.Ile603Met) c.1698C>G (p.Ile566Met) c.1452C>G (p.Ile484Met) c.1692C>G (p.Ile564Met) c.1635C>G (p.Ile545Met) c.1566C>G (p.Ile522Met) c.2145C>G (p.Ile715Met) c.2034C>G (p.Ile678Met) c.2010C>G (p.Ile670Met) n.2187C>G | |
12 | g.7209823C>T | CA6426548 | PEX5 | c.1701C>T (p.Ile567=) c.1590C>T (p.Ile530=) c.1677C>T (p.Ile559=) c.1764C>T (p.Ile588=) c.1746C>T (p.Ile582=) c.1653C>T (p.Ile551=) c.1809C>T (p.Ile603=) c.1698C>T (p.Ile566=) c.1452C>T (p.Ile484=) c.1692C>T (p.Ile564=) c.1635C>T (p.Ile545=) c.1566C>T (p.Ile522=) c.2145C>T (p.Ile715=) c.2034C>T (p.Ile678=) c.2010C>T (p.Ile670=) n.2187C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.7209824_7209827dup | CA603488601 | PEX5 | c.1702_1705dup (p.Leu569GlnfsTer28) c.1591_1594dup (p.Leu532GlnfsTer28) c.1678_1681dup (p.Leu561GlnfsTer28) c.1765_1768dup (p.Leu590GlnfsTer28) c.1747_1750dup (p.Leu584GlnfsTer28) c.1654_1657dup (p.Leu553GlnfsTer28) c.1810_1813dup (p.Leu605GlnfsTer28) c.1699_1702dup (p.Leu568GlnfsTer28) c.1453_1456dup (p.Leu486GlnfsTer28) c.1693_1696dup (p.Leu566GlnfsTer28) c.1636_1639dup (p.Leu547GlnfsTer28) c.1567_1570dup (p.Leu524GlnfsTer28) c.2146_2149dup (p.Leu717GlnfsTer28) c.2035_2038dup (p.Leu680GlnfsTer28) c.2011_2014dup (p.Leu672GlnfsTer28) n.2188_2191dup | dbSNP gnomAD v2 gnomAD v4 |
12 | g.7209824A>C | CA383738727 | PEX5 | c.1702A>C (p.Asn568His) c.1591A>C (p.Asn531His) c.1678A>C (p.Asn560His) c.1765A>C (p.Asn589His) c.1747A>C (p.Asn583His) c.1654A>C (p.Asn552His) c.1810A>C (p.Asn604His) c.1699A>C (p.Asn567His) c.1453A>C (p.Asn485His) c.1693A>C (p.Asn565His) c.1636A>C (p.Asn546His) c.1567A>C (p.Asn523His) c.2146A>C (p.Asn716His) c.2035A>C (p.Asn679His) c.2011A>C (p.Asn671His) n.2188A>C | |
12 | g.7209824A>G | CA383738736 | PEX5 | c.1702A>G (p.Asn568Asp) c.1591A>G (p.Asn531Asp) c.1678A>G (p.Asn560Asp) c.1765A>G (p.Asn589Asp) c.1747A>G (p.Asn583Asp) c.1654A>G (p.Asn552Asp) c.1810A>G (p.Asn604Asp) c.1699A>G (p.Asn567Asp) c.1453A>G (p.Asn485Asp) c.1693A>G (p.Asn565Asp) c.1636A>G (p.Asn546Asp) c.1567A>G (p.Asn523Asp) c.2146A>G (p.Asn716Asp) c.2035A>G (p.Asn679Asp) c.2011A>G (p.Asn671Asp) n.2188A>G | gnomAD v4 |
12 | g.7209824A>T | CA383738731 | PEX5 | c.1702A>T (p.Asn568Tyr) c.1591A>T (p.Asn531Tyr) c.1678A>T (p.Asn560Tyr) c.1765A>T (p.Asn589Tyr) c.1747A>T (p.Asn583Tyr) c.1654A>T (p.Asn552Tyr) c.1810A>T (p.Asn604Tyr) c.1699A>T (p.Asn567Tyr) c.1453A>T (p.Asn485Tyr) c.1693A>T (p.Asn565Tyr) c.1636A>T (p.Asn546Tyr) c.1567A>T (p.Asn523Tyr) c.2146A>T (p.Asn716Tyr) c.2035A>T (p.Asn679Tyr) c.2011A>T (p.Asn671Tyr) n.2188A>T | |
12 | g.7209825A>C | CA383738737 | PEX5 | c.1703A>C (p.Asn568Thr) c.1592A>C (p.Asn531Thr) c.1679A>C (p.Asn560Thr) c.1766A>C (p.Asn589Thr) c.1748A>C (p.Asn583Thr) c.1655A>C (p.Asn552Thr) c.1811A>C (p.Asn604Thr) c.1700A>C (p.Asn567Thr) c.1454A>C (p.Asn485Thr) c.1694A>C (p.Asn565Thr) c.1637A>C (p.Asn546Thr) c.1568A>C (p.Asn523Thr) c.2147A>C (p.Asn716Thr) c.2036A>C (p.Asn679Thr) c.2012A>C (p.Asn671Thr) n.2189A>C | |
12 | g.7209825A>G | CA383738738 | PEX5 | c.1703A>G (p.Asn568Ser) c.1592A>G (p.Asn531Ser) c.1679A>G (p.Asn560Ser) c.1766A>G (p.Asn589Ser) c.1748A>G (p.Asn583Ser) c.1655A>G (p.Asn552Ser) c.1811A>G (p.Asn604Ser) c.1700A>G (p.Asn567Ser) c.1454A>G (p.Asn485Ser) c.1694A>G (p.Asn565Ser) c.1637A>G (p.Asn546Ser) c.1568A>G (p.Asn523Ser) c.2147A>G (p.Asn716Ser) c.2036A>G (p.Asn679Ser) c.2012A>G (p.Asn671Ser) n.2189A>G | |
12 | g.7209825A>T | CA383738739 | PEX5 | c.1703A>T (p.Asn568Ile) c.1592A>T (p.Asn531Ile) c.1679A>T (p.Asn560Ile) c.1766A>T (p.Asn589Ile) c.1748A>T (p.Asn583Ile) c.1655A>T (p.Asn552Ile) c.1811A>T (p.Asn604Ile) c.1700A>T (p.Asn567Ile) c.1454A>T (p.Asn485Ile) c.1694A>T (p.Asn565Ile) c.1637A>T (p.Asn546Ile) c.1568A>T (p.Asn523Ile) c.2147A>T (p.Asn716Ile) c.2036A>T (p.Asn679Ile) c.2012A>T (p.Asn671Ile) n.2189A>T | |
12 | g.7209826C>A | CA383738742 | PEX5 | c.1704C>A (p.Asn568Lys) c.1593C>A (p.Asn531Lys) c.1680C>A (p.Asn560Lys) c.1767C>A (p.Asn589Lys) c.1749C>A (p.Asn583Lys) c.1656C>A (p.Asn552Lys) c.1812C>A (p.Asn604Lys) c.1701C>A (p.Asn567Lys) c.1455C>A (p.Asn485Lys) c.1695C>A (p.Asn565Lys) c.1638C>A (p.Asn546Lys) c.1569C>A (p.Asn523Lys) c.2148C>A (p.Asn716Lys) c.2037C>A (p.Asn679Lys) c.2013C>A (p.Asn671Lys) n.2190C>A | |
12 | g.7209826C= | CA2014448446 | PEX5 | c.1704C= (p.Asn568=) c.1593C= (p.Asn531=) c.1680C= (p.Asn560=) c.1767C= (p.Asn589=) c.1749C= (p.Asn583=) c.1656C= (p.Asn552=) c.1812C= (p.Asn604=) c.1701C= (p.Asn567=) c.1455C= (p.Asn485=) c.1695C= (p.Asn565=) c.1638C= (p.Asn546=) c.1569C= (p.Asn523=) c.2148C= (p.Asn716=) c.2037C= (p.Asn679=) c.2013C= (p.Asn671=) n.2190C= | |
12 | g.7209826C>G | CA383738745 | PEX5 | c.1704C>G (p.Asn568Lys) c.1593C>G (p.Asn531Lys) c.1680C>G (p.Asn560Lys) c.1767C>G (p.Asn589Lys) c.1749C>G (p.Asn583Lys) c.1656C>G (p.Asn552Lys) c.1812C>G (p.Asn604Lys) c.1701C>G (p.Asn567Lys) c.1455C>G (p.Asn485Lys) c.1695C>G (p.Asn565Lys) c.1638C>G (p.Asn546Lys) c.1569C>G (p.Asn523Lys) c.2148C>G (p.Asn716Lys) c.2037C>G (p.Asn679Lys) c.2013C>G (p.Asn671Lys) n.2190C>G | |
12 | g.7209826C>T | CA6426549 | PEX5 | c.1704C>T (p.Asn568=) c.1593C>T (p.Asn531=) c.1680C>T (p.Asn560=) c.1767C>T (p.Asn589=) c.1749C>T (p.Asn583=) c.1656C>T (p.Asn552=) c.1812C>T (p.Asn604=) c.1701C>T (p.Asn567=) c.1455C>T (p.Asn485=) c.1695C>T (p.Asn565=) c.1638C>T (p.Asn546=) c.1569C>T (p.Asn523=) c.2148C>T (p.Asn716=) c.2037C>T (p.Asn679=) c.2013C>T (p.Asn671=) n.2190C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
12 | g.7209827C>A | CA383738751 | PEX5 | c.1705C>A (p.Leu569Ile) c.1594C>A (p.Leu532Ile) c.1681C>A (p.Leu561Ile) c.1768C>A (p.Leu590Ile) c.1750C>A (p.Leu584Ile) c.1657C>A (p.Leu553Ile) c.1813C>A (p.Leu605Ile) c.1702C>A (p.Leu568Ile) c.1456C>A (p.Leu486Ile) c.1696C>A (p.Leu566Ile) c.1639C>A (p.Leu547Ile) c.1570C>A (p.Leu524Ile) c.2149C>A (p.Leu717Ile) c.2038C>A (p.Leu680Ile) c.2014C>A (p.Leu672Ile) n.2191C>A | |
12 | g.7209827C>G | CA383738759 | PEX5 | c.1705C>G (p.Leu569Val) c.1594C>G (p.Leu532Val) c.1681C>G (p.Leu561Val) c.1768C>G (p.Leu590Val) c.1750C>G (p.Leu584Val) c.1657C>G (p.Leu553Val) c.1813C>G (p.Leu605Val) c.1702C>G (p.Leu568Val) c.1456C>G (p.Leu486Val) c.1696C>G (p.Leu566Val) c.1639C>G (p.Leu547Val) c.1570C>G (p.Leu524Val) c.2149C>G (p.Leu717Val) c.2038C>G (p.Leu680Val) c.2014C>G (p.Leu672Val) n.2191C>G | |
12 | g.7209827C>T | CA383738763 | PEX5 | c.1705C>T (p.Leu569Phe) c.1594C>T (p.Leu532Phe) c.1681C>T (p.Leu561Phe) c.1768C>T (p.Leu590Phe) c.1750C>T (p.Leu584Phe) c.1657C>T (p.Leu553Phe) c.1813C>T (p.Leu605Phe) c.1702C>T (p.Leu568Phe) c.1456C>T (p.Leu486Phe) c.1696C>T (p.Leu566Phe) c.1639C>T (p.Leu547Phe) c.1570C>T (p.Leu524Phe) c.2149C>T (p.Leu717Phe) c.2038C>T (p.Leu680Phe) c.2014C>T (p.Leu672Phe) n.2191C>T | COSMIC COSMIC |
12 | g.7209828T>A | CA383738767 | PEX5 | c.1706T>A (p.Leu569His) c.1595T>A (p.Leu532His) c.1682T>A (p.Leu561His) c.1769T>A (p.Leu590His) c.1751T>A (p.Leu584His) c.1658T>A (p.Leu553His) c.1814T>A (p.Leu605His) c.1703T>A (p.Leu568His) c.1457T>A (p.Leu486His) c.1697T>A (p.Leu566His) c.1640T>A (p.Leu547His) c.1571T>A (p.Leu524His) c.2150T>A (p.Leu717His) c.2039T>A (p.Leu680His) c.2015T>A (p.Leu672His) n.2192T>A | |
12 | g.7209828T>C | CA383738773 | PEX5 | c.1706T>C (p.Leu569Pro) c.1595T>C (p.Leu532Pro) c.1682T>C (p.Leu561Pro) c.1769T>C (p.Leu590Pro) c.1751T>C (p.Leu584Pro) c.1658T>C (p.Leu553Pro) c.1814T>C (p.Leu605Pro) c.1703T>C (p.Leu568Pro) c.1457T>C (p.Leu486Pro) c.1697T>C (p.Leu566Pro) c.1640T>C (p.Leu547Pro) c.1571T>C (p.Leu524Pro) c.2150T>C (p.Leu717Pro) c.2039T>C (p.Leu680Pro) c.2015T>C (p.Leu672Pro) n.2192T>C | |
12 | g.7209828T>G | CA383738776 | PEX5 | c.1706T>G (p.Leu569Arg) c.1595T>G (p.Leu532Arg) c.1682T>G (p.Leu561Arg) c.1769T>G (p.Leu590Arg) c.1751T>G (p.Leu584Arg) c.1658T>G (p.Leu553Arg) c.1814T>G (p.Leu605Arg) c.1703T>G (p.Leu568Arg) c.1457T>G (p.Leu486Arg) c.1697T>G (p.Leu566Arg) c.1640T>G (p.Leu547Arg) c.1571T>G (p.Leu524Arg) c.2150T>G (p.Leu717Arg) c.2039T>G (p.Leu680Arg) c.2015T>G (p.Leu672Arg) n.2192T>G | |
12 | g.7209829C>A | CA478523479 | PEX5 | c.1707C>A (p.Leu569=) c.1596C>A (p.Leu532=) c.1683C>A (p.Leu561=) c.1770C>A (p.Leu590=) c.1752C>A (p.Leu584=) c.1659C>A (p.Leu553=) c.1815C>A (p.Leu605=) c.1704C>A (p.Leu568=) c.1458C>A (p.Leu486=) c.1698C>A (p.Leu566=) c.1641C>A (p.Leu547=) c.1572C>A (p.Leu524=) c.2151C>A (p.Leu717=) c.2040C>A (p.Leu680=) c.2016C>A (p.Leu672=) n.2193C>A | |
12 | g.7209829C= | CA2014448447 | PEX5 | c.1707C= (p.Leu569=) c.1596C= (p.Leu532=) c.1683C= (p.Leu561=) c.1770C= (p.Leu590=) c.1752C= (p.Leu584=) c.1659C= (p.Leu553=) c.1815C= (p.Leu605=) c.1704C= (p.Leu568=) c.1458C= (p.Leu486=) c.1698C= (p.Leu566=) c.1641C= (p.Leu547=) c.1572C= (p.Leu524=) c.2151C= (p.Leu717=) c.2040C= (p.Leu680=) c.2016C= (p.Leu672=) n.2193C= | |
12 | g.7209829C>G | CA478523481 | PEX5 | c.1707C>G (p.Leu569=) c.1596C>G (p.Leu532=) c.1683C>G (p.Leu561=) c.1770C>G (p.Leu590=) c.1752C>G (p.Leu584=) c.1659C>G (p.Leu553=) c.1815C>G (p.Leu605=) c.1704C>G (p.Leu568=) c.1458C>G (p.Leu486=) c.1698C>G (p.Leu566=) c.1641C>G (p.Leu547=) c.1572C>G (p.Leu524=) c.2151C>G (p.Leu717=) c.2040C>G (p.Leu680=) c.2016C>G (p.Leu672=) n.2193C>G | |
12 | g.7209829C>T | CA6426550 | PEX5 | c.1707C>T (p.Leu569=) c.1596C>T (p.Leu532=) c.1683C>T (p.Leu561=) c.1770C>T (p.Leu590=) c.1752C>T (p.Leu584=) c.1659C>T (p.Leu553=) c.1815C>T (p.Leu605=) c.1704C>T (p.Leu568=) c.1458C>T (p.Leu486=) c.1698C>T (p.Leu566=) c.1641C>T (p.Leu547=) c.1572C>T (p.Leu524=) c.2151C>T (p.Leu717=) c.2040C>T (p.Leu680=) c.2016C>T (p.Leu672=) n.2193C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.7209829_7209845del | CA2794442300 | PEX5 | c.1707_1718+5del c.1596_1607+5del c.1683_1694+5del c.1770_1781+5del c.1752_1763+5del c.1659_1670+5del c.1815_1826+5del c.1704_1715+5del c.1458_1469+5del c.1698_1709+5del c.1641_1652+5del c.1572_1583+5del c.2151_2162+5del c.2040_2051+5del c.2016_2027+5del n.2193_2204+5del | |
12 | g.7209830G>A | CA383738785 | PEX5 | c.1708G>A (p.Gly570Arg) c.1597G>A (p.Gly533Arg) c.1684G>A (p.Gly562Arg) c.1771G>A (p.Gly591Arg) c.1753G>A (p.Gly585Arg) c.1660G>A (p.Gly554Arg) c.1816G>A (p.Gly606Arg) c.1705G>A (p.Gly569Arg) c.1459G>A (p.Gly487Arg) c.1699G>A (p.Gly567Arg) c.1642G>A (p.Gly548Arg) c.1573G>A (p.Gly525Arg) c.2152G>A (p.Gly718Arg) c.2041G>A (p.Gly681Arg) c.2017G>A (p.Gly673Arg) n.2194G>A | ClinVar dbSNP gnomAD v4 |
12 | g.7209830G>C | CA383738789 | PEX5 | c.1708G>C (p.Gly570Arg) c.1597G>C (p.Gly533Arg) c.1684G>C (p.Gly562Arg) c.1771G>C (p.Gly591Arg) c.1753G>C (p.Gly585Arg) c.1660G>C (p.Gly554Arg) c.1816G>C (p.Gly606Arg) c.1705G>C (p.Gly569Arg) c.1459G>C (p.Gly487Arg) c.1699G>C (p.Gly567Arg) c.1642G>C (p.Gly548Arg) c.1573G>C (p.Gly525Arg) c.2152G>C (p.Gly718Arg) c.2041G>C (p.Gly681Arg) c.2017G>C (p.Gly673Arg) n.2194G>C | |
12 | g.7209830G= | CA2014448448 | PEX5 | c.1708G= (p.Gly570=) c.1597G= (p.Gly533=) c.1684G= (p.Gly562=) c.1771G= (p.Gly591=) c.1753G= (p.Gly585=) c.1660G= (p.Gly554=) c.1816G= (p.Gly606=) c.1705G= (p.Gly569=) c.1459G= (p.Gly487=) c.1699G= (p.Gly567=) c.1642G= (p.Gly548=) c.1573G= (p.Gly525=) c.2152G= (p.Gly718=) c.2041G= (p.Gly681=) c.2017G= (p.Gly673=) n.2194G= | |
12 | g.7209830G>T | CA383738792 | PEX5 | c.1708G>T (p.Gly570Trp) c.1597G>T (p.Gly533Trp) c.1684G>T (p.Gly562Trp) c.1771G>T (p.Gly591Trp) c.1753G>T (p.Gly585Trp) c.1660G>T (p.Gly554Trp) c.1816G>T (p.Gly606Trp) c.1705G>T (p.Gly569Trp) c.1459G>T (p.Gly487Trp) c.1699G>T (p.Gly567Trp) c.1642G>T (p.Gly548Trp) c.1573G>T (p.Gly525Trp) c.2152G>T (p.Gly718Trp) c.2041G>T (p.Gly681Trp) c.2017G>T (p.Gly673Trp) n.2194G>T | gnomAD v4 |
12 | g.7209831G>A | CA383738797 | PEX5 | c.1709G>A (p.Gly570Glu) c.1598G>A (p.Gly533Glu) c.1685G>A (p.Gly562Glu) c.1772G>A (p.Gly591Glu) c.1754G>A (p.Gly585Glu) c.1661G>A (p.Gly554Glu) c.1817G>A (p.Gly606Glu) c.1706G>A (p.Gly569Glu) c.1460G>A (p.Gly487Glu) c.1700G>A (p.Gly567Glu) c.1643G>A (p.Gly548Glu) c.1574G>A (p.Gly525Glu) c.2153G>A (p.Gly718Glu) c.2042G>A (p.Gly681Glu) c.2018G>A (p.Gly673Glu) n.2195G>A | |
12 | g.7209831G>C | CA383738801 | PEX5 | c.1709G>C (p.Gly570Ala) c.1598G>C (p.Gly533Ala) c.1685G>C (p.Gly562Ala) c.1772G>C (p.Gly591Ala) c.1754G>C (p.Gly585Ala) c.1661G>C (p.Gly554Ala) c.1817G>C (p.Gly606Ala) c.1706G>C (p.Gly569Ala) c.1460G>C (p.Gly487Ala) c.1700G>C (p.Gly567Ala) c.1643G>C (p.Gly548Ala) c.1574G>C (p.Gly525Ala) c.2153G>C (p.Gly718Ala) c.2042G>C (p.Gly681Ala) c.2018G>C (p.Gly673Ala) n.2195G>C | |
12 | g.7209831G>T | CA383738806 | PEX5 | c.1709G>T (p.Gly570Val) c.1598G>T (p.Gly533Val) c.1685G>T (p.Gly562Val) c.1772G>T (p.Gly591Val) c.1754G>T (p.Gly585Val) c.1661G>T (p.Gly554Val) c.1817G>T (p.Gly606Val) c.1706G>T (p.Gly569Val) c.1460G>T (p.Gly487Val) c.1700G>T (p.Gly567Val) c.1643G>T (p.Gly548Val) c.1574G>T (p.Gly525Val) c.2153G>T (p.Gly718Val) c.2042G>T (p.Gly681Val) c.2018G>T (p.Gly673Val) n.2195G>T | |
12 | g.7209832G>A | CA478523484 | PEX5 | c.1710G>A (p.Gly570=) c.1599G>A (p.Gly533=) c.1686G>A (p.Gly562=) c.1773G>A (p.Gly591=) c.1755G>A (p.Gly585=) c.1662G>A (p.Gly554=) c.1818G>A (p.Gly606=) c.1707G>A (p.Gly569=) c.1461G>A (p.Gly487=) c.1701G>A (p.Gly567=) c.1644G>A (p.Gly548=) c.1575G>A (p.Gly525=) c.2154G>A (p.Gly718=) c.2043G>A (p.Gly681=) c.2019G>A (p.Gly673=) n.2196G>A | |
12 | g.7209832G>C | CA478523486 | PEX5 | c.1710G>C (p.Gly570=) c.1599G>C (p.Gly533=) c.1686G>C (p.Gly562=) c.1773G>C (p.Gly591=) c.1755G>C (p.Gly585=) c.1662G>C (p.Gly554=) c.1818G>C (p.Gly606=) c.1707G>C (p.Gly569=) c.1461G>C (p.Gly487=) c.1701G>C (p.Gly567=) c.1644G>C (p.Gly548=) c.1575G>C (p.Gly525=) c.2154G>C (p.Gly718=) c.2043G>C (p.Gly681=) c.2019G>C (p.Gly673=) n.2196G>C | |
12 | g.7209832G>T | CA478523487 | PEX5 | c.1710G>T (p.Gly570=) c.1599G>T (p.Gly533=) c.1686G>T (p.Gly562=) c.1773G>T (p.Gly591=) c.1755G>T (p.Gly585=) c.1662G>T (p.Gly554=) c.1818G>T (p.Gly606=) c.1707G>T (p.Gly569=) c.1461G>T (p.Gly487=) c.1701G>T (p.Gly567=) c.1644G>T (p.Gly548=) c.1575G>T (p.Gly525=) c.2154G>T (p.Gly718=) c.2043G>T (p.Gly681=) c.2019G>T (p.Gly673=) n.2196G>T | |
12 | g.7209833G>A | CA383738810 | PEX5 | c.1711G>A (p.Ala571Thr) c.1600G>A (p.Ala534Thr) c.1687G>A (p.Ala563Thr) c.1774G>A (p.Ala592Thr) c.1756G>A (p.Ala586Thr) c.1663G>A (p.Ala555Thr) c.1819G>A (p.Ala607Thr) c.1708G>A (p.Ala570Thr) c.1462G>A (p.Ala488Thr) c.1702G>A (p.Ala568Thr) c.1645G>A (p.Ala549Thr) c.1576G>A (p.Ala526Thr) c.2155G>A (p.Ala719Thr) c.2044G>A (p.Ala682Thr) c.2020G>A (p.Ala674Thr) n.2197G>A | |
12 | g.7209833G>C | CA383738814 | PEX5 | c.1711G>C (p.Ala571Pro) c.1600G>C (p.Ala534Pro) c.1687G>C (p.Ala563Pro) c.1774G>C (p.Ala592Pro) c.1756G>C (p.Ala586Pro) c.1663G>C (p.Ala555Pro) c.1819G>C (p.Ala607Pro) c.1708G>C (p.Ala570Pro) c.1462G>C (p.Ala488Pro) c.1702G>C (p.Ala568Pro) c.1645G>C (p.Ala549Pro) c.1576G>C (p.Ala526Pro) c.2155G>C (p.Ala719Pro) c.2044G>C (p.Ala682Pro) c.2020G>C (p.Ala674Pro) n.2197G>C | |
12 | g.7209833G>T | CA383738818 | PEX5 | c.1711G>T (p.Ala571Ser) c.1600G>T (p.Ala534Ser) c.1687G>T (p.Ala563Ser) c.1774G>T (p.Ala592Ser) c.1756G>T (p.Ala586Ser) c.1663G>T (p.Ala555Ser) c.1819G>T (p.Ala607Ser) c.1708G>T (p.Ala570Ser) c.1462G>T (p.Ala488Ser) c.1702G>T (p.Ala568Ser) c.1645G>T (p.Ala549Ser) c.1576G>T (p.Ala526Ser) c.2155G>T (p.Ala719Ser) c.2044G>T (p.Ala682Ser) c.2020G>T (p.Ala674Ser) n.2197G>T | |
12 | g.7209834C>A | CA383738822 | PEX5 | c.1712C>A (p.Ala571Asp) c.1601C>A (p.Ala534Asp) c.1688C>A (p.Ala563Asp) c.1775C>A (p.Ala592Asp) c.1757C>A (p.Ala586Asp) c.1664C>A (p.Ala555Asp) c.1820C>A (p.Ala607Asp) c.1709C>A (p.Ala570Asp) c.1463C>A (p.Ala488Asp) c.1703C>A (p.Ala568Asp) c.1646C>A (p.Ala549Asp) c.1577C>A (p.Ala526Asp) c.2156C>A (p.Ala719Asp) c.2045C>A (p.Ala682Asp) c.2021C>A (p.Ala674Asp) n.2198C>A | gnomAD v4 |
12 | g.7209834C>G | CA383738827 | PEX5 | c.1712C>G (p.Ala571Gly) c.1601C>G (p.Ala534Gly) c.1688C>G (p.Ala563Gly) c.1775C>G (p.Ala592Gly) c.1757C>G (p.Ala586Gly) c.1664C>G (p.Ala555Gly) c.1820C>G (p.Ala607Gly) c.1709C>G (p.Ala570Gly) c.1463C>G (p.Ala488Gly) c.1703C>G (p.Ala568Gly) c.1646C>G (p.Ala549Gly) c.1577C>G (p.Ala526Gly) c.2156C>G (p.Ala719Gly) c.2045C>G (p.Ala682Gly) c.2021C>G (p.Ala674Gly) n.2198C>G | |
12 | g.7209834C>T | CA383738829 | PEX5 | c.1712C>T (p.Ala571Val) c.1601C>T (p.Ala534Val) c.1688C>T (p.Ala563Val) c.1775C>T (p.Ala592Val) c.1757C>T (p.Ala586Val) c.1664C>T (p.Ala555Val) c.1820C>T (p.Ala607Val) c.1709C>T (p.Ala570Val) c.1463C>T (p.Ala488Val) c.1703C>T (p.Ala568Val) c.1646C>T (p.Ala549Val) c.1577C>T (p.Ala526Val) c.2156C>T (p.Ala719Val) c.2045C>T (p.Ala682Val) c.2021C>T (p.Ala674Val) n.2198C>T | gnomAD v4 |
12 | g.7209835T>A | CA478523490 | PEX5 | c.1713T>A (p.Ala571=) c.1602T>A (p.Ala534=) c.1689T>A (p.Ala563=) c.1776T>A (p.Ala592=) c.1758T>A (p.Ala586=) c.1665T>A (p.Ala555=) c.1821T>A (p.Ala607=) c.1710T>A (p.Ala570=) c.1464T>A (p.Ala488=) c.1704T>A (p.Ala568=) c.1647T>A (p.Ala549=) c.1578T>A (p.Ala526=) c.2157T>A (p.Ala719=) c.2046T>A (p.Ala682=) c.2022T>A (p.Ala674=) n.2199T>A | |
12 | g.7209835T>C | CA478523491 | PEX5 | c.1713T>C (p.Ala571=) c.1602T>C (p.Ala534=) c.1689T>C (p.Ala563=) c.1776T>C (p.Ala592=) c.1758T>C (p.Ala586=) c.1665T>C (p.Ala555=) c.1821T>C (p.Ala607=) c.1710T>C (p.Ala570=) c.1464T>C (p.Ala488=) c.1704T>C (p.Ala568=) c.1647T>C (p.Ala549=) c.1578T>C (p.Ala526=) c.2157T>C (p.Ala719=) c.2046T>C (p.Ala682=) c.2022T>C (p.Ala674=) n.2199T>C | |
12 | g.7209835T>G | CA478523492 | PEX5 | c.1713T>G (p.Ala571=) c.1602T>G (p.Ala534=) c.1689T>G (p.Ala563=) c.1776T>G (p.Ala592=) c.1758T>G (p.Ala586=) c.1665T>G (p.Ala555=) c.1821T>G (p.Ala607=) c.1710T>G (p.Ala570=) c.1464T>G (p.Ala488=) c.1704T>G (p.Ala568=) c.1647T>G (p.Ala549=) c.1578T>G (p.Ala526=) c.2157T>G (p.Ala719=) c.2046T>G (p.Ala682=) c.2022T>G (p.Ala674=) n.2199T>G | ClinVar dbSNP gnomAD v4 |
12 | g.7209835T= | CA2014448449 | PEX5 | c.1713T= (p.Ala571=) c.1602T= (p.Ala534=) c.1689T= (p.Ala563=) c.1776T= (p.Ala592=) c.1758T= (p.Ala586=) c.1665T= (p.Ala555=) c.1821T= (p.Ala607=) c.1710T= (p.Ala570=) c.1464T= (p.Ala488=) c.1704T= (p.Ala568=) c.1647T= (p.Ala549=) c.1578T= (p.Ala526=) c.2157T= (p.Ala719=) c.2046T= (p.Ala682=) c.2022T= (p.Ala674=) n.2199T= | |
12 | g.7209836C>A | CA383738834 | PEX5 | c.1714C>A (p.His572Asn) c.1603C>A (p.His535Asn) c.1690C>A (p.His564Asn) c.1777C>A (p.His593Asn) c.1759C>A (p.His587Asn) c.1666C>A (p.His556Asn) c.1822C>A (p.His608Asn) c.1711C>A (p.His571Asn) c.1465C>A (p.His489Asn) c.1705C>A (p.His569Asn) c.1648C>A (p.His550Asn) c.1579C>A (p.His527Asn) c.2158C>A (p.His720Asn) c.2047C>A (p.His683Asn) c.2023C>A (p.His675Asn) n.2200C>A | |
12 | g.7209836C>G | CA383738836 | PEX5 | c.1714C>G (p.His572Asp) c.1603C>G (p.His535Asp) c.1690C>G (p.His564Asp) c.1777C>G (p.His593Asp) c.1759C>G (p.His587Asp) c.1666C>G (p.His556Asp) c.1822C>G (p.His608Asp) c.1711C>G (p.His571Asp) c.1465C>G (p.His489Asp) c.1705C>G (p.His569Asp) c.1648C>G (p.His550Asp) c.1579C>G (p.His527Asp) c.2158C>G (p.His720Asp) c.2047C>G (p.His683Asp) c.2023C>G (p.His675Asp) n.2200C>G | |
12 | g.7209836C>T | CA383738831 | PEX5 | c.1714C>T (p.His572Tyr) c.1603C>T (p.His535Tyr) c.1690C>T (p.His564Tyr) c.1777C>T (p.His593Tyr) c.1759C>T (p.His587Tyr) c.1666C>T (p.His556Tyr) c.1822C>T (p.His608Tyr) c.1711C>T (p.His571Tyr) c.1465C>T (p.His489Tyr) c.1705C>T (p.His569Tyr) c.1648C>T (p.His550Tyr) c.1579C>T (p.His527Tyr) c.2158C>T (p.His720Tyr) c.2047C>T (p.His683Tyr) c.2023C>T (p.His675Tyr) n.2200C>T | |
12 | g.7209837A>C | CA383738840 | PEX5 | c.1715A>C (p.His572Pro) c.1604A>C (p.His535Pro) c.1691A>C (p.His564Pro) c.1778A>C (p.His593Pro) c.1760A>C (p.His587Pro) c.1667A>C (p.His556Pro) c.1823A>C (p.His608Pro) c.1712A>C (p.His571Pro) c.1466A>C (p.His489Pro) c.1706A>C (p.His569Pro) c.1649A>C (p.His550Pro) c.1580A>C (p.His527Pro) c.2159A>C (p.His720Pro) c.2048A>C (p.His683Pro) c.2024A>C (p.His675Pro) n.2201A>C | gnomAD v4 |
12 | g.7209837A>G | CA383738842 | PEX5 | c.1715A>G (p.His572Arg) c.1604A>G (p.His535Arg) c.1691A>G (p.His564Arg) c.1778A>G (p.His593Arg) c.1760A>G (p.His587Arg) c.1667A>G (p.His556Arg) c.1823A>G (p.His608Arg) c.1712A>G (p.His571Arg) c.1466A>G (p.His489Arg) c.1706A>G (p.His569Arg) c.1649A>G (p.His550Arg) c.1580A>G (p.His527Arg) c.2159A>G (p.His720Arg) c.2048A>G (p.His683Arg) c.2024A>G (p.His675Arg) n.2201A>G | |
12 | g.7209837A>T | CA383738846 | PEX5 | c.1715A>T (p.His572Leu) c.1604A>T (p.His535Leu) c.1691A>T (p.His564Leu) c.1778A>T (p.His593Leu) c.1760A>T (p.His587Leu) c.1667A>T (p.His556Leu) c.1823A>T (p.His608Leu) c.1712A>T (p.His571Leu) c.1466A>T (p.His489Leu) c.1706A>T (p.His569Leu) c.1649A>T (p.His550Leu) c.1580A>T (p.His527Leu) c.2159A>T (p.His720Leu) c.2048A>T (p.His683Leu) c.2024A>T (p.His675Leu) n.2201A>T | |
12 | g.7209838C>A | CA383738850 | PEX5 | c.1716C>A (p.His572Gln) c.1605C>A (p.His535Gln) c.1692C>A (p.His564Gln) c.1779C>A (p.His593Gln) c.1761C>A (p.His587Gln) c.1668C>A (p.His556Gln) c.1824C>A (p.His608Gln) c.1713C>A (p.His571Gln) c.1467C>A (p.His489Gln) c.1707C>A (p.His569Gln) c.1650C>A (p.His550Gln) c.1581C>A (p.His527Gln) c.2160C>A (p.His720Gln) c.2049C>A (p.His683Gln) c.2025C>A (p.His675Gln) n.2202C>A | |
12 | g.7209838C>G | CA383738852 | PEX5 | c.1716C>G (p.His572Gln) c.1605C>G (p.His535Gln) c.1692C>G (p.His564Gln) c.1779C>G (p.His593Gln) c.1761C>G (p.His587Gln) c.1668C>G (p.His556Gln) c.1824C>G (p.His608Gln) c.1713C>G (p.His571Gln) c.1467C>G (p.His489Gln) c.1707C>G (p.His569Gln) c.1650C>G (p.His550Gln) c.1581C>G (p.His527Gln) c.2160C>G (p.His720Gln) c.2049C>G (p.His683Gln) c.2025C>G (p.His675Gln) n.2202C>G | |
12 | g.7209838C>T | CA478523497 | PEX5 | c.1716C>T (p.His572=) c.1605C>T (p.His535=) c.1692C>T (p.His564=) c.1779C>T (p.His593=) c.1761C>T (p.His587=) c.1668C>T (p.His556=) c.1824C>T (p.His608=) c.1713C>T (p.His571=) c.1467C>T (p.His489=) c.1707C>T (p.His569=) c.1650C>T (p.His550=) c.1581C>T (p.His527=) c.2160C>T (p.His720=) c.2049C>T (p.His683=) c.2025C>T (p.His675=) n.2202C>T | |
12 | g.7209839C>A | CA478523498 | PEX5 | c.1717C>A (p.Arg573=) c.1606C>A (p.Arg536=) c.1693C>A (p.Arg565=) c.1780C>A (p.Arg594=) c.1762C>A (p.Arg588=) c.1669C>A (p.Arg557=) c.1825C>A (p.Arg609=) c.1714C>A (p.Arg572=) c.1468C>A (p.Arg490=) c.1708C>A (p.Arg570=) c.1651C>A (p.Arg551=) c.1582C>A (p.Arg528=) c.2161C>A (p.Arg721=) c.2050C>A (p.Arg684=) c.2026C>A (p.Arg676=) n.2203C>A | |
12 | g.7209839C= | CA2014448450 | PEX5 | c.1717C= (p.Arg573=) c.1606C= (p.Arg536=) c.1693C= (p.Arg565=) c.1780C= (p.Arg594=) c.1762C= (p.Arg588=) c.1669C= (p.Arg557=) c.1825C= (p.Arg609=) c.1714C= (p.Arg572=) c.1468C= (p.Arg490=) c.1708C= (p.Arg570=) c.1651C= (p.Arg551=) c.1582C= (p.Arg528=) c.2161C= (p.Arg721=) c.2050C= (p.Arg684=) c.2026C= (p.Arg676=) n.2203C= | |
12 | g.7209839C>G | CA383738856 | PEX5 | c.1717C>G (p.Arg573Gly) c.1606C>G (p.Arg536Gly) c.1693C>G (p.Arg565Gly) c.1780C>G (p.Arg594Gly) c.1762C>G (p.Arg588Gly) c.1669C>G (p.Arg557Gly) c.1825C>G (p.Arg609Gly) c.1714C>G (p.Arg572Gly) c.1468C>G (p.Arg490Gly) c.1708C>G (p.Arg570Gly) c.1651C>G (p.Arg551Gly) c.1582C>G (p.Arg528Gly) c.2161C>G (p.Arg721Gly) c.2050C>G (p.Arg684Gly) c.2026C>G (p.Arg676Gly) n.2203C>G | ClinVar gnomAD v4 |
12 | g.7209839C>T | CA6426551 | PEX5 | c.1717C>T (p.Arg573Trp) c.1606C>T (p.Arg536Trp) c.1693C>T (p.Arg565Trp) c.1780C>T (p.Arg594Trp) c.1762C>T (p.Arg588Trp) c.1669C>T (p.Arg557Trp) c.1825C>T (p.Arg609Trp) c.1714C>T (p.Arg572Trp) c.1468C>T (p.Arg490Trp) c.1708C>T (p.Arg570Trp) c.1651C>T (p.Arg551Trp) c.1582C>T (p.Arg528Trp) c.2161C>T (p.Arg721Trp) c.2050C>T (p.Arg684Trp) c.2026C>T (p.Arg676Trp) n.2203C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
12 | g.7209840G>A | CA6426552 | PEX5 | c.1718G>A (p.Arg573Gln) c.1607G>A (p.Arg536Gln) c.1694G>A (p.Arg565Gln) c.1781G>A (p.Arg594Gln) c.1763G>A (p.Arg588Gln) c.1670G>A (p.Arg557Gln) c.1826G>A (p.Arg609Gln) c.1715G>A (p.Arg572Gln) c.1469G>A (p.Arg490Gln) c.1709G>A (p.Arg570Gln) c.1652G>A (p.Arg551Gln) c.1583G>A (p.Arg528Gln) c.2162G>A (p.Arg721Gln) c.2051G>A (p.Arg684Gln) c.2027G>A (p.Arg676Gln) n.2204G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
12 | g.7209840G>C | CA383738869 | PEX5 | c.1718G>C (p.Arg573Pro) c.1607G>C (p.Arg536Pro) c.1694G>C (p.Arg565Pro) c.1781G>C (p.Arg594Pro) c.1763G>C (p.Arg588Pro) c.1670G>C (p.Arg557Pro) c.1826G>C (p.Arg609Pro) c.1715G>C (p.Arg572Pro) c.1469G>C (p.Arg490Pro) c.1709G>C (p.Arg570Pro) c.1652G>C (p.Arg551Pro) c.1583G>C (p.Arg528Pro) c.2162G>C (p.Arg721Pro) c.2051G>C (p.Arg684Pro) c.2027G>C (p.Arg676Pro) n.2204G>C | dbSNP |
12 | g.7209840G= | CA2014448451 | PEX5 | c.1718G= (p.Arg573=) c.1607G= (p.Arg536=) c.1694G= (p.Arg565=) c.1781G= (p.Arg594=) c.1763G= (p.Arg588=) c.1670G= (p.Arg557=) c.1826G= (p.Arg609=) c.1715G= (p.Arg572=) c.1469G= (p.Arg490=) c.1709G= (p.Arg570=) c.1652G= (p.Arg551=) c.1583G= (p.Arg528=) c.2162G= (p.Arg721=) c.2051G= (p.Arg684=) c.2027G= (p.Arg676=) n.2204G= | |
12 | g.7209840G>T | CA383738871 | PEX5 | c.1718G>T (p.Arg573Leu) c.1607G>T (p.Arg536Leu) c.1694G>T (p.Arg565Leu) c.1781G>T (p.Arg594Leu) c.1763G>T (p.Arg588Leu) c.1670G>T (p.Arg557Leu) c.1826G>T (p.Arg609Leu) c.1715G>T (p.Arg572Leu) c.1469G>T (p.Arg490Leu) c.1709G>T (p.Arg570Leu) c.1652G>T (p.Arg551Leu) c.1583G>T (p.Arg528Leu) c.2162G>T (p.Arg721Leu) c.2051G>T (p.Arg684Leu) c.2027G>T (p.Arg676Leu) n.2204G>T | gnomAD v4 |
12 | g.7209841G>A | CA383738876 | PEX5 | c.1718+1G>A (n.1718+1G>A) c.1607+1G>A (n.1607+1G>A) c.1694+1G>A (n.1694+1G>A) c.1781+1G>A (n.1781+1G>A) c.1763+1G>A (n.1763+1G>A) c.1670+1G>A (n.1670+1G>A) c.1826+1G>A (n.1826+1G>A) c.1715+1G>A (n.1715+1G>A) c.1469+1G>A (n.1469+1G>A) c.1709+1G>A (n.1709+1G>A) c.1652+1G>A (n.1652+1G>A) c.1583+1G>A (n.1583+1G>A) c.2162+1G>A (n.2162+1G>A) c.2051+1G>A (n.2051+1G>A) c.2027+1G>A (n.2027+1G>A) n.2204+1G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.7209841G>C | CA383738879 | PEX5 | c.1718+1G>C (n.1718+1G>C) c.1607+1G>C (n.1607+1G>C) c.1694+1G>C (n.1694+1G>C) c.1781+1G>C (n.1781+1G>C) c.1763+1G>C (n.1763+1G>C) c.1670+1G>C (n.1670+1G>C) c.1826+1G>C (n.1826+1G>C) c.1715+1G>C (n.1715+1G>C) c.1469+1G>C (n.1469+1G>C) c.1709+1G>C (n.1709+1G>C) c.1652+1G>C (n.1652+1G>C) c.1583+1G>C (n.1583+1G>C) c.2162+1G>C (n.2162+1G>C) c.2051+1G>C (n.2051+1G>C) c.2027+1G>C (n.2027+1G>C) n.2204+1G>C | |
12 | g.7209841G= | CA2014448452 | PEX5 | c.1718+1G= (n.1718+1G=) c.1607+1G= (n.1607+1G=) c.1694+1G= (n.1694+1G=) c.1781+1G= (n.1781+1G=) c.1763+1G= (n.1763+1G=) c.1670+1G= (n.1670+1G=) c.1826+1G= (n.1826+1G=) c.1715+1G= (n.1715+1G=) c.1469+1G= (n.1469+1G=) c.1709+1G= (n.1709+1G=) c.1652+1G= (n.1652+1G=) c.1583+1G= (n.1583+1G=) c.2162+1G= (n.2162+1G=) c.2051+1G= (n.2051+1G=) c.2027+1G= (n.2027+1G=) n.2204+1G= | |
12 | g.7209841G>T | CA383738884 | PEX5 | c.1718+1G>T (n.1718+1G>T) c.1607+1G>T (n.1607+1G>T) c.1694+1G>T (n.1694+1G>T) c.1781+1G>T (n.1781+1G>T) c.1763+1G>T (n.1763+1G>T) c.1670+1G>T (n.1670+1G>T) c.1826+1G>T (n.1826+1G>T) c.1715+1G>T (n.1715+1G>T) c.1469+1G>T (n.1469+1G>T) c.1709+1G>T (n.1709+1G>T) c.1652+1G>T (n.1652+1G>T) c.1583+1G>T (n.1583+1G>T) c.2162+1G>T (n.2162+1G>T) c.2051+1G>T (n.2051+1G>T) c.2027+1G>T (n.2027+1G>T) n.2204+1G>T | |
12 | g.7209842T>A | CA383738899 | PEX5 | c.1718+2T>A (n.1718+2T>A) c.1607+2T>A (n.1607+2T>A) c.1694+2T>A (n.1694+2T>A) c.1781+2T>A (n.1781+2T>A) c.1763+2T>A (n.1763+2T>A) c.1670+2T>A (n.1670+2T>A) c.1826+2T>A (n.1826+2T>A) c.1715+2T>A (n.1715+2T>A) c.1469+2T>A (n.1469+2T>A) c.1709+2T>A (n.1709+2T>A) c.1652+2T>A (n.1652+2T>A) c.1583+2T>A (n.1583+2T>A) c.2162+2T>A (n.2162+2T>A) c.2051+2T>A (n.2051+2T>A) c.2027+2T>A (n.2027+2T>A) n.2204+2T>A | |
12 | g.7209842T>C | CA383738897 | PEX5 | c.1718+2T>C (n.1718+2T>C) c.1607+2T>C (n.1607+2T>C) c.1694+2T>C (n.1694+2T>C) c.1781+2T>C (n.1781+2T>C) c.1763+2T>C (n.1763+2T>C) c.1670+2T>C (n.1670+2T>C) c.1826+2T>C (n.1826+2T>C) c.1715+2T>C (n.1715+2T>C) c.1469+2T>C (n.1469+2T>C) c.1709+2T>C (n.1709+2T>C) c.1652+2T>C (n.1652+2T>C) c.1583+2T>C (n.1583+2T>C) c.2162+2T>C (n.2162+2T>C) c.2051+2T>C (n.2051+2T>C) c.2027+2T>C (n.2027+2T>C) n.2204+2T>C | |
12 | g.7209842T>G | CA383738889 | PEX5 | c.1718+2T>G (n.1718+2T>G) c.1607+2T>G (n.1607+2T>G) c.1694+2T>G (n.1694+2T>G) c.1781+2T>G (n.1781+2T>G) c.1763+2T>G (n.1763+2T>G) c.1670+2T>G (n.1670+2T>G) c.1826+2T>G (n.1826+2T>G) c.1715+2T>G (n.1715+2T>G) c.1469+2T>G (n.1469+2T>G) c.1709+2T>G (n.1709+2T>G) c.1652+2T>G (n.1652+2T>G) c.1583+2T>G (n.1583+2T>G) c.2162+2T>G (n.2162+2T>G) c.2051+2T>G (n.2051+2T>G) c.2027+2T>G (n.2027+2T>G) n.2204+2T>G | |
12 | g.7209842_7209844delinsTGA | CA2014448453 | PEX5 | c.1718+2_1718+4delinsTGA (n.1718+2_1718+4delinsTGA) c.1607+2_1607+4delinsTGA (n.1607+2_1607+4delinsTGA) c.1694+2_1694+4delinsTGA (n.1694+2_1694+4delinsTGA) c.1781+2_1781+4delinsTGA (n.1781+2_1781+4delinsTGA) c.1763+2_1763+4delinsTGA (n.1763+2_1763+4delinsTGA) c.1670+2_1670+4delinsTGA (n.1670+2_1670+4delinsTGA) c.1826+2_1826+4delinsTGA (n.1826+2_1826+4delinsTGA) c.1715+2_1715+4delinsTGA (n.1715+2_1715+4delinsTGA) c.1469+2_1469+4delinsTGA (n.1469+2_1469+4delinsTGA) c.1709+2_1709+4delinsTGA (n.1709+2_1709+4delinsTGA) c.1652+2_1652+4delinsTGA (n.1652+2_1652+4delinsTGA) c.1583+2_1583+4delinsTGA (n.1583+2_1583+4delinsTGA) c.2162+2_2162+4delinsTGA (n.2162+2_2162+4delinsTGA) c.2051+2_2051+4delinsTGA (n.2051+2_2051+4delinsTGA) c.2027+2_2027+4delinsTGA (n.2027+2_2027+4delinsTGA) n.2204+2_2204+4delinsTGA | |
12 | g.7209843del | CA2794442301 | PEX5 | c.1718+3del (n.1718+3del) c.1607+3del (n.1607+3del) c.1694+3del (n.1694+3del) c.1781+3del (n.1781+3del) c.1763+3del (n.1763+3del) c.1670+3del (n.1670+3del) c.1826+3del (n.1826+3del) c.1715+3del (n.1715+3del) c.1469+3del (n.1469+3del) c.1709+3del (n.1709+3del) c.1652+3del (n.1652+3del) c.1583+3del (n.1583+3del) c.2162+3del (n.2162+3del) c.2051+3del (n.2051+3del) c.2027+3del (n.2027+3del) n.2204+3del | |
12 | g.7209846_7209847del | CA691585528 | PEX5 | c.1718+6_1718+7del (n.1718+6_1718+7del) c.1607+6_1607+7del (n.1607+6_1607+7del) c.1694+6_1694+7del (n.1694+6_1694+7del) c.1781+6_1781+7del (n.1781+6_1781+7del) c.1763+6_1763+7del (n.1763+6_1763+7del) c.1670+6_1670+7del (n.1670+6_1670+7del) c.1826+6_1826+7del (n.1826+6_1826+7del) c.1715+6_1715+7del (n.1715+6_1715+7del) c.1469+6_1469+7del (n.1469+6_1469+7del) c.1709+6_1709+7del (n.1709+6_1709+7del) c.1652+6_1652+7del (n.1652+6_1652+7del) c.1583+6_1583+7del (n.1583+6_1583+7del) c.2162+6_2162+7del (n.2162+6_2162+7del) c.2051+6_2051+7del (n.2051+6_2051+7del) c.2027+6_2027+7del (n.2027+6_2027+7del) n.2204+6_2204+7del | dbSNP gnomAD v3 gnomAD v4 |
12 | g.7209844A= | CA2014448454 | PEX5 | c.1718+4A= (n.1718+4A=) c.1607+4A= (n.1607+4A=) c.1694+4A= (n.1694+4A=) c.1781+4A= (n.1781+4A=) c.1763+4A= (n.1763+4A=) c.1670+4A= (n.1670+4A=) c.1826+4A= (n.1826+4A=) c.1715+4A= (n.1715+4A=) c.1469+4A= (n.1469+4A=) c.1709+4A= (n.1709+4A=) c.1652+4A= (n.1652+4A=) c.1583+4A= (n.1583+4A=) c.2162+4A= (n.2162+4A=) c.2051+4A= (n.2051+4A=) c.2027+4A= (n.2027+4A=) n.2204+4A= | |
12 | g.7209844A>G | CA6426553 | PEX5 | c.1718+4A>G (n.1718+4A>G) c.1607+4A>G (n.1607+4A>G) c.1694+4A>G (n.1694+4A>G) c.1781+4A>G (n.1781+4A>G) c.1763+4A>G (n.1763+4A>G) c.1670+4A>G (n.1670+4A>G) c.1826+4A>G (n.1826+4A>G) c.1715+4A>G (n.1715+4A>G) c.1469+4A>G (n.1469+4A>G) c.1709+4A>G (n.1709+4A>G) c.1652+4A>G (n.1652+4A>G) c.1583+4A>G (n.1583+4A>G) c.2162+4A>G (n.2162+4A>G) c.2051+4A>G (n.2051+4A>G) c.2027+4A>G (n.2027+4A>G) n.2204+4A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.7209845G>A | CA603488602 | PEX5 | c.1718+5G>A (n.1718+5G>A) c.1607+5G>A (n.1607+5G>A) c.1694+5G>A (n.1694+5G>A) c.1781+5G>A (n.1781+5G>A) c.1763+5G>A (n.1763+5G>A) c.1670+5G>A (n.1670+5G>A) c.1826+5G>A (n.1826+5G>A) c.1715+5G>A (n.1715+5G>A) c.1469+5G>A (n.1469+5G>A) c.1709+5G>A (n.1709+5G>A) c.1652+5G>A (n.1652+5G>A) c.1583+5G>A (n.1583+5G>A) c.2162+5G>A (n.2162+5G>A) c.2051+5G>A (n.2051+5G>A) c.2027+5G>A (n.2027+5G>A) n.2204+5G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.7209845G>C | CA2794442302 | PEX5 | c.1718+5G>C (n.1718+5G>C) c.1607+5G>C (n.1607+5G>C) c.1694+5G>C (n.1694+5G>C) c.1781+5G>C (n.1781+5G>C) c.1763+5G>C (n.1763+5G>C) c.1670+5G>C (n.1670+5G>C) c.1826+5G>C (n.1826+5G>C) c.1715+5G>C (n.1715+5G>C) c.1469+5G>C (n.1469+5G>C) c.1709+5G>C (n.1709+5G>C) c.1652+5G>C (n.1652+5G>C) c.1583+5G>C (n.1583+5G>C) c.2162+5G>C (n.2162+5G>C) c.2051+5G>C (n.2051+5G>C) c.2027+5G>C (n.2027+5G>C) n.2204+5G>C | |
12 | g.7209845G= | CA2014448455 | PEX5 | c.1718+5G= (n.1718+5G=) c.1607+5G= (n.1607+5G=) c.1694+5G= (n.1694+5G=) c.1781+5G= (n.1781+5G=) c.1763+5G= (n.1763+5G=) c.1670+5G= (n.1670+5G=) c.1826+5G= (n.1826+5G=) c.1715+5G= (n.1715+5G=) c.1469+5G= (n.1469+5G=) c.1709+5G= (n.1709+5G=) c.1652+5G= (n.1652+5G=) c.1583+5G= (n.1583+5G=) c.2162+5G= (n.2162+5G=) c.2051+5G= (n.2051+5G=) c.2027+5G= (n.2027+5G=) n.2204+5G= | |
12 | g.7209846A= | CA2014448456 | PEX5 | c.1718+6A= (n.1718+6A=) c.1607+6A= (n.1607+6A=) c.1694+6A= (n.1694+6A=) c.1781+6A= (n.1781+6A=) c.1763+6A= (n.1763+6A=) c.1670+6A= (n.1670+6A=) c.1826+6A= (n.1826+6A=) c.1715+6A= (n.1715+6A=) c.1469+6A= (n.1469+6A=) c.1709+6A= (n.1709+6A=) c.1652+6A= (n.1652+6A=) c.1583+6A= (n.1583+6A=) c.2162+6A= (n.2162+6A=) c.2051+6A= (n.2051+6A=) c.2027+6A= (n.2027+6A=) n.2204+6A= | |
12 | g.7209846A>C | CA603488603 | PEX5 | c.1718+6A>C (n.1718+6A>C) c.1607+6A>C (n.1607+6A>C) c.1694+6A>C (n.1694+6A>C) c.1781+6A>C (n.1781+6A>C) c.1763+6A>C (n.1763+6A>C) c.1670+6A>C (n.1670+6A>C) c.1826+6A>C (n.1826+6A>C) c.1715+6A>C (n.1715+6A>C) c.1469+6A>C (n.1469+6A>C) c.1709+6A>C (n.1709+6A>C) c.1652+6A>C (n.1652+6A>C) c.1583+6A>C (n.1583+6A>C) c.2162+6A>C (n.2162+6A>C) c.2051+6A>C (n.2051+6A>C) c.2027+6A>C (n.2027+6A>C) n.2204+6A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.7209846A>G | CA6426554 | PEX5 | c.1718+6A>G (n.1718+6A>G) c.1607+6A>G (n.1607+6A>G) c.1694+6A>G (n.1694+6A>G) c.1781+6A>G (n.1781+6A>G) c.1763+6A>G (n.1763+6A>G) c.1670+6A>G (n.1670+6A>G) c.1826+6A>G (n.1826+6A>G) c.1715+6A>G (n.1715+6A>G) c.1469+6A>G (n.1469+6A>G) c.1709+6A>G (n.1709+6A>G) c.1652+6A>G (n.1652+6A>G) c.1583+6A>G (n.1583+6A>G) c.2162+6A>G (n.2162+6A>G) c.2051+6A>G (n.2051+6A>G) c.2027+6A>G (n.2027+6A>G) n.2204+6A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.7209847G>A | CA6426557 | PEX5 | c.1718+7G>A (n.1718+7G>A) c.1607+7G>A (n.1607+7G>A) c.1694+7G>A (n.1694+7G>A) c.1781+7G>A (n.1781+7G>A) c.1763+7G>A (n.1763+7G>A) c.1670+7G>A (n.1670+7G>A) c.1826+7G>A (n.1826+7G>A) c.1715+7G>A (n.1715+7G>A) c.1469+7G>A (n.1469+7G>A) c.1709+7G>A (n.1709+7G>A) c.1652+7G>A (n.1652+7G>A) c.1583+7G>A (n.1583+7G>A) c.2162+7G>A (n.2162+7G>A) c.2051+7G>A (n.2051+7G>A) c.2027+7G>A (n.2027+7G>A) n.2204+7G>A | ClinVar dbSNP ExAC gnomAD v2 |
12 | g.7209847G= | CA2014448458 | PEX5 | c.1718+7G= (n.1718+7G=) c.1607+7G= (n.1607+7G=) c.1694+7G= (n.1694+7G=) c.1781+7G= (n.1781+7G=) c.1763+7G= (n.1763+7G=) c.1670+7G= (n.1670+7G=) c.1826+7G= (n.1826+7G=) c.1715+7G= (n.1715+7G=) c.1469+7G= (n.1469+7G=) c.1709+7G= (n.1709+7G=) c.1652+7G= (n.1652+7G=) c.1583+7G= (n.1583+7G=) c.2162+7G= (n.2162+7G=) c.2051+7G= (n.2051+7G=) c.2027+7G= (n.2027+7G=) n.2204+7G= | |
12 | g.7209847G>T | CA2591103646 | PEX5 | c.1718+7G>T (n.1718+7G>T) c.1607+7G>T (n.1607+7G>T) c.1694+7G>T (n.1694+7G>T) c.1781+7G>T (n.1781+7G>T) c.1763+7G>T (n.1763+7G>T) c.1670+7G>T (n.1670+7G>T) c.1826+7G>T (n.1826+7G>T) c.1715+7G>T (n.1715+7G>T) c.1469+7G>T (n.1469+7G>T) c.1709+7G>T (n.1709+7G>T) c.1652+7G>T (n.1652+7G>T) c.1583+7G>T (n.1583+7G>T) c.2162+7G>T (n.2162+7G>T) c.2051+7G>T (n.2051+7G>T) c.2027+7G>T (n.2027+7G>T) n.2204+7G>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.7209847_7209849delinsGTA | CA2014448459 | PEX5 | c.1718+7_1718+9delinsGTA (n.1718+7_1718+9delinsGTA) c.1607+7_1607+9delinsGTA (n.1607+7_1607+9delinsGTA) c.1694+7_1694+9delinsGTA (n.1694+7_1694+9delinsGTA) c.1781+7_1781+9delinsGTA (n.1781+7_1781+9delinsGTA) c.1763+7_1763+9delinsGTA (n.1763+7_1763+9delinsGTA) c.1670+7_1670+9delinsGTA (n.1670+7_1670+9delinsGTA) c.1826+7_1826+9delinsGTA (n.1826+7_1826+9delinsGTA) c.1715+7_1715+9delinsGTA (n.1715+7_1715+9delinsGTA) c.1469+7_1469+9delinsGTA (n.1469+7_1469+9delinsGTA) c.1709+7_1709+9delinsGTA (n.1709+7_1709+9delinsGTA) c.1652+7_1652+9delinsGTA (n.1652+7_1652+9delinsGTA) c.1583+7_1583+9delinsGTA (n.1583+7_1583+9delinsGTA) c.2162+7_2162+9delinsGTA (n.2162+7_2162+9delinsGTA) c.2051+7_2051+9delinsGTA (n.2051+7_2051+9delinsGTA) c.2027+7_2027+9delinsGTA (n.2027+7_2027+9delinsGTA) n.2204+7_2204+9delinsGTA | |
12 | g.7209847_7209851delinsGTATC | CA2014448457 | PEX5 | c.1718+7_1718+11delinsGTATC (n.1718+7_1718+11delinsGTATC) c.1607+7_1607+11delinsGTATC (n.1607+7_1607+11delinsGTATC) c.1694+7_1694+11delinsGTATC (n.1694+7_1694+11delinsGTATC) c.1781+7_1781+11delinsGTATC (n.1781+7_1781+11delinsGTATC) c.1763+7_1763+11delinsGTATC (n.1763+7_1763+11delinsGTATC) c.1670+7_1670+11delinsGTATC (n.1670+7_1670+11delinsGTATC) c.1826+7_1826+11delinsGTATC (n.1826+7_1826+11delinsGTATC) c.1715+7_1715+11delinsGTATC (n.1715+7_1715+11delinsGTATC) c.1469+7_1469+11delinsGTATC (n.1469+7_1469+11delinsGTATC) c.1709+7_1709+11delinsGTATC (n.1709+7_1709+11delinsGTATC) c.1652+7_1652+11delinsGTATC (n.1652+7_1652+11delinsGTATC) c.1583+7_1583+11delinsGTATC (n.1583+7_1583+11delinsGTATC) c.2162+7_2162+11delinsGTATC (n.2162+7_2162+11delinsGTATC) c.2051+7_2051+11delinsGTATC (n.2051+7_2051+11delinsGTATC) c.2027+7_2027+11delinsGTATC (n.2027+7_2027+11delinsGTATC) n.2204+7_2204+11delinsGTATC | |
12 | g.7209848T>G | CA6426558 | PEX5 | c.1718+8T>G (n.1718+8T>G) c.1607+8T>G (n.1607+8T>G) c.1694+8T>G (n.1694+8T>G) c.1781+8T>G (n.1781+8T>G) c.1763+8T>G (n.1763+8T>G) c.1670+8T>G (n.1670+8T>G) c.1826+8T>G (n.1826+8T>G) c.1715+8T>G (n.1715+8T>G) c.1469+8T>G (n.1469+8T>G) c.1709+8T>G (n.1709+8T>G) c.1652+8T>G (n.1652+8T>G) c.1583+8T>G (n.1583+8T>G) c.2162+8T>G (n.2162+8T>G) c.2051+8T>G (n.2051+8T>G) c.2027+8T>G (n.2027+8T>G) n.2204+8T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.7209848T= | CA2014448460 | PEX5 | c.1718+8T= (n.1718+8T=) c.1607+8T= (n.1607+8T=) c.1694+8T= (n.1694+8T=) c.1781+8T= (n.1781+8T=) c.1763+8T= (n.1763+8T=) c.1670+8T= (n.1670+8T=) c.1826+8T= (n.1826+8T=) c.1715+8T= (n.1715+8T=) c.1469+8T= (n.1469+8T=) c.1709+8T= (n.1709+8T=) c.1652+8T= (n.1652+8T=) c.1583+8T= (n.1583+8T=) c.2162+8T= (n.2162+8T=) c.2051+8T= (n.2051+8T=) c.2027+8T= (n.2027+8T=) n.2204+8T= | |
12 | g.7209849_7209850del | CA603488604 | PEX5 | c.1718+9_1718+10del (n.1718+9_1718+10del) c.1607+9_1607+10del (n.1607+9_1607+10del) c.1694+9_1694+10del (n.1694+9_1694+10del) c.1781+9_1781+10del (n.1781+9_1781+10del) c.1763+9_1763+10del (n.1763+9_1763+10del) c.1670+9_1670+10del (n.1670+9_1670+10del) c.1826+9_1826+10del (n.1826+9_1826+10del) c.1715+9_1715+10del (n.1715+9_1715+10del) c.1469+9_1469+10del (n.1469+9_1469+10del) c.1709+9_1709+10del (n.1709+9_1709+10del) c.1652+9_1652+10del (n.1652+9_1652+10del) c.1583+9_1583+10del (n.1583+9_1583+10del) c.2162+9_2162+10del (n.2162+9_2162+10del) c.2051+9_2051+10del (n.2051+9_2051+10del) c.2027+9_2027+10del (n.2027+9_2027+10del) n.2204+9_2204+10del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.7209851_7209854dup | CA6426555 | PEX5 | c.1718+11_1718+14dup (n.1718+11_1718+14dup) c.1607+11_1607+14dup (n.1607+11_1607+14dup) c.1694+11_1694+14dup (n.1694+11_1694+14dup) c.1781+11_1781+14dup (n.1781+11_1781+14dup) c.1763+11_1763+14dup (n.1763+11_1763+14dup) c.1670+11_1670+14dup (n.1670+11_1670+14dup) c.1826+11_1826+14dup (n.1826+11_1826+14dup) c.1715+11_1715+14dup (n.1715+11_1715+14dup) c.1469+11_1469+14dup (n.1469+11_1469+14dup) c.1709+11_1709+14dup (n.1709+11_1709+14dup) c.1652+11_1652+14dup (n.1652+11_1652+14dup) c.1583+11_1583+14dup (n.1583+11_1583+14dup) c.2162+11_2162+14dup (n.2162+11_2162+14dup) c.2051+11_2051+14dup (n.2051+11_2051+14dup) c.2027+11_2027+14dup (n.2027+11_2027+14dup) n.2204+11_2204+14dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.7209851_7209854del | CA6426556 | PEX5 | c.1718+11_1718+14del (n.1718+11_1718+14del) c.1607+11_1607+14del (n.1607+11_1607+14del) c.1694+11_1694+14del (n.1694+11_1694+14del) c.1781+11_1781+14del (n.1781+11_1781+14del) c.1763+11_1763+14del (n.1763+11_1763+14del) c.1670+11_1670+14del (n.1670+11_1670+14del) c.1826+11_1826+14del (n.1826+11_1826+14del) c.1715+11_1715+14del (n.1715+11_1715+14del) c.1469+11_1469+14del (n.1469+11_1469+14del) c.1709+11_1709+14del (n.1709+11_1709+14del) c.1652+11_1652+14del (n.1652+11_1652+14del) c.1583+11_1583+14del (n.1583+11_1583+14del) c.2162+11_2162+14del (n.2162+11_2162+14del) c.2051+11_2051+14del (n.2051+11_2051+14del) c.2027+11_2027+14del (n.2027+11_2027+14del) n.2204+11_2204+14del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.7209848_7209849insTCTC | CA2591103650 | PEX5 | c.1718+8_1718+9insTCTC (n.1718+8_1718+9insTCTC) c.1607+8_1607+9insTCTC (n.1607+8_1607+9insTCTC) c.1694+8_1694+9insTCTC (n.1694+8_1694+9insTCTC) c.1781+8_1781+9insTCTC (n.1781+8_1781+9insTCTC) c.1763+8_1763+9insTCTC (n.1763+8_1763+9insTCTC) c.1670+8_1670+9insTCTC (n.1670+8_1670+9insTCTC) c.1826+8_1826+9insTCTC (n.1826+8_1826+9insTCTC) c.1715+8_1715+9insTCTC (n.1715+8_1715+9insTCTC) c.1469+8_1469+9insTCTC (n.1469+8_1469+9insTCTC) c.1709+8_1709+9insTCTC (n.1709+8_1709+9insTCTC) c.1652+8_1652+9insTCTC (n.1652+8_1652+9insTCTC) c.1583+8_1583+9insTCTC (n.1583+8_1583+9insTCTC) c.2162+8_2162+9insTCTC (n.2162+8_2162+9insTCTC) c.2051+8_2051+9insTCTC (n.2051+8_2051+9insTCTC) c.2027+8_2027+9insTCTC (n.2027+8_2027+9insTCTC) n.2204+8_2204+9insTCTC | gnomAD v3 gnomAD v4 |
12 | g.7209849A= | CA2014448461 | PEX5 | c.1718+9A= (n.1718+9A=) c.1607+9A= (n.1607+9A=) c.1694+9A= (n.1694+9A=) c.1781+9A= (n.1781+9A=) c.1763+9A= (n.1763+9A=) c.1670+9A= (n.1670+9A=) c.1826+9A= (n.1826+9A=) c.1715+9A= (n.1715+9A=) c.1469+9A= (n.1469+9A=) c.1709+9A= (n.1709+9A=) c.1652+9A= (n.1652+9A=) c.1583+9A= (n.1583+9A=) c.2162+9A= (n.2162+9A=) c.2051+9A= (n.2051+9A=) c.2027+9A= (n.2027+9A=) n.2204+9A= | |
12 | g.7209849A>G | CA2014448462 | PEX5 | c.1718+9A>G (n.1718+9A>G) c.1607+9A>G (n.1607+9A>G) c.1694+9A>G (n.1694+9A>G) c.1781+9A>G (n.1781+9A>G) c.1763+9A>G (n.1763+9A>G) c.1670+9A>G (n.1670+9A>G) c.1826+9A>G (n.1826+9A>G) c.1715+9A>G (n.1715+9A>G) c.1469+9A>G (n.1469+9A>G) c.1709+9A>G (n.1709+9A>G) c.1652+9A>G (n.1652+9A>G) c.1583+9A>G (n.1583+9A>G) c.2162+9A>G (n.2162+9A>G) c.2051+9A>G (n.2051+9A>G) c.2027+9A>G (n.2027+9A>G) n.2204+9A>G | ClinVar dbSNP |
12 | g.7209849_7209851dup | CA603488605 | PEX5 | c.1718+9_1718+11dup (n.1718+9_1718+11dup) c.1607+9_1607+11dup (n.1607+9_1607+11dup) c.1694+9_1694+11dup (n.1694+9_1694+11dup) c.1781+9_1781+11dup (n.1781+9_1781+11dup) c.1763+9_1763+11dup (n.1763+9_1763+11dup) c.1670+9_1670+11dup (n.1670+9_1670+11dup) c.1826+9_1826+11dup (n.1826+9_1826+11dup) c.1715+9_1715+11dup (n.1715+9_1715+11dup) c.1469+9_1469+11dup (n.1469+9_1469+11dup) c.1709+9_1709+11dup (n.1709+9_1709+11dup) c.1652+9_1652+11dup (n.1652+9_1652+11dup) c.1583+9_1583+11dup (n.1583+9_1583+11dup) c.2162+9_2162+11dup (n.2162+9_2162+11dup) c.2051+9_2051+11dup (n.2051+9_2051+11dup) c.2027+9_2027+11dup (n.2027+9_2027+11dup) n.2204+9_2204+11dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.7209851C>A | CA2617416647 | PEX5 | c.1718+11C>A (n.1718+11C>A) c.1607+11C>A (n.1607+11C>A) c.1694+11C>A (n.1694+11C>A) c.1781+11C>A (n.1781+11C>A) c.1763+11C>A (n.1763+11C>A) c.1670+11C>A (n.1670+11C>A) c.1826+11C>A (n.1826+11C>A) c.1715+11C>A (n.1715+11C>A) c.1469+11C>A (n.1469+11C>A) c.1709+11C>A (n.1709+11C>A) c.1652+11C>A (n.1652+11C>A) c.1583+11C>A (n.1583+11C>A) c.2162+11C>A (n.2162+11C>A) c.2051+11C>A (n.2051+11C>A) c.2027+11C>A (n.2027+11C>A) n.2204+11C>A | gnomAD v4 |
12 | g.7209853A= | CA2014448463 | PEX5 | c.1718+13A= (n.1718+13A=) c.1607+13A= (n.1607+13A=) c.1694+13A= (n.1694+13A=) c.1781+13A= (n.1781+13A=) c.1763+13A= (n.1763+13A=) c.1670+13A= (n.1670+13A=) c.1826+13A= (n.1826+13A=) c.1715+13A= (n.1715+13A=) c.1469+13A= (n.1469+13A=) c.1709+13A= (n.1709+13A=) c.1652+13A= (n.1652+13A=) c.1583+13A= (n.1583+13A=) c.2162+13A= (n.2162+13A=) c.2051+13A= (n.2051+13A=) c.2027+13A= (n.2027+13A=) n.2204+13A= | |
12 | g.7209853A>C | CA2581068669 | PEX5 | c.1718+13A>C (n.1718+13A>C) c.1607+13A>C (n.1607+13A>C) c.1694+13A>C (n.1694+13A>C) c.1781+13A>C (n.1781+13A>C) c.1763+13A>C (n.1763+13A>C) c.1670+13A>C (n.1670+13A>C) c.1826+13A>C (n.1826+13A>C) c.1715+13A>C (n.1715+13A>C) c.1469+13A>C (n.1469+13A>C) c.1709+13A>C (n.1709+13A>C) c.1652+13A>C (n.1652+13A>C) c.1583+13A>C (n.1583+13A>C) c.2162+13A>C (n.2162+13A>C) c.2051+13A>C (n.2051+13A>C) c.2027+13A>C (n.2027+13A>C) n.2204+13A>C | |
12 | g.7209853A>G | CA6426559 | PEX5 | c.1718+13A>G (n.1718+13A>G) c.1607+13A>G (n.1607+13A>G) c.1694+13A>G (n.1694+13A>G) c.1781+13A>G (n.1781+13A>G) c.1763+13A>G (n.1763+13A>G) c.1670+13A>G (n.1670+13A>G) c.1826+13A>G (n.1826+13A>G) c.1715+13A>G (n.1715+13A>G) c.1469+13A>G (n.1469+13A>G) c.1709+13A>G (n.1709+13A>G) c.1652+13A>G (n.1652+13A>G) c.1583+13A>G (n.1583+13A>G) c.2162+13A>G (n.2162+13A>G) c.2051+13A>G (n.2051+13A>G) c.2027+13A>G (n.2027+13A>G) n.2204+13A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.7209853A>T | CA2581068670 | PEX5 | c.1718+13A>T (n.1718+13A>T) c.1607+13A>T (n.1607+13A>T) c.1694+13A>T (n.1694+13A>T) c.1781+13A>T (n.1781+13A>T) c.1763+13A>T (n.1763+13A>T) c.1670+13A>T (n.1670+13A>T) c.1826+13A>T (n.1826+13A>T) c.1715+13A>T (n.1715+13A>T) c.1469+13A>T (n.1469+13A>T) c.1709+13A>T (n.1709+13A>T) c.1652+13A>T (n.1652+13A>T) c.1583+13A>T (n.1583+13A>T) c.2162+13A>T (n.2162+13A>T) c.2051+13A>T (n.2051+13A>T) c.2027+13A>T (n.2027+13A>T) n.2204+13A>T | |
12 | g.7209854T>C | CA2617416648 | PEX5 | c.1718+14T>C (n.1718+14T>C) c.1607+14T>C (n.1607+14T>C) c.1694+14T>C (n.1694+14T>C) c.1781+14T>C (n.1781+14T>C) c.1763+14T>C (n.1763+14T>C) c.1670+14T>C (n.1670+14T>C) c.1826+14T>C (n.1826+14T>C) c.1715+14T>C (n.1715+14T>C) c.1469+14T>C (n.1469+14T>C) c.1709+14T>C (n.1709+14T>C) c.1652+14T>C (n.1652+14T>C) c.1583+14T>C (n.1583+14T>C) c.2162+14T>C (n.2162+14T>C) c.2051+14T>C (n.2051+14T>C) c.2027+14T>C (n.2027+14T>C) n.2204+14T>C | gnomAD v4 |
12 | g.7209854_7209855insACA | CA2794442303 | PEX5 | c.1718+14_1718+15insACA (n.1718+14_1718+15insACA) c.1607+14_1607+15insACA (n.1607+14_1607+15insACA) c.1694+14_1694+15insACA (n.1694+14_1694+15insACA) c.1781+14_1781+15insACA (n.1781+14_1781+15insACA) c.1763+14_1763+15insACA (n.1763+14_1763+15insACA) c.1670+14_1670+15insACA (n.1670+14_1670+15insACA) c.1826+14_1826+15insACA (n.1826+14_1826+15insACA) c.1715+14_1715+15insACA (n.1715+14_1715+15insACA) c.1469+14_1469+15insACA (n.1469+14_1469+15insACA) c.1709+14_1709+15insACA (n.1709+14_1709+15insACA) c.1652+14_1652+15insACA (n.1652+14_1652+15insACA) c.1583+14_1583+15insACA (n.1583+14_1583+15insACA) c.2162+14_2162+15insACA (n.2162+14_2162+15insACA) c.2051+14_2051+15insACA (n.2051+14_2051+15insACA) c.2027+14_2027+15insACA (n.2027+14_2027+15insACA) n.2204+14_2204+15insACA | |
12 | g.7209855T>C | CA232477206 | PEX5 | c.1718+15T>C (n.1718+15T>C) c.1607+15T>C (n.1607+15T>C) c.1694+15T>C (n.1694+15T>C) c.1781+15T>C (n.1781+15T>C) c.1763+15T>C (n.1763+15T>C) c.1670+15T>C (n.1670+15T>C) c.1826+15T>C (n.1826+15T>C) c.1715+15T>C (n.1715+15T>C) c.1469+15T>C (n.1469+15T>C) c.1709+15T>C (n.1709+15T>C) c.1652+15T>C (n.1652+15T>C) c.1583+15T>C (n.1583+15T>C) c.2162+15T>C (n.2162+15T>C) c.2051+15T>C (n.2051+15T>C) c.2027+15T>C (n.2027+15T>C) n.2204+15T>C | dbSNP gnomAD v4 |
12 | g.7209855T>G | CA6426560 | PEX5 | c.1718+15T>G (n.1718+15T>G) c.1607+15T>G (n.1607+15T>G) c.1694+15T>G (n.1694+15T>G) c.1781+15T>G (n.1781+15T>G) c.1763+15T>G (n.1763+15T>G) c.1670+15T>G (n.1670+15T>G) c.1826+15T>G (n.1826+15T>G) c.1715+15T>G (n.1715+15T>G) c.1469+15T>G (n.1469+15T>G) c.1709+15T>G (n.1709+15T>G) c.1652+15T>G (n.1652+15T>G) c.1583+15T>G (n.1583+15T>G) c.2162+15T>G (n.2162+15T>G) c.2051+15T>G (n.2051+15T>G) c.2027+15T>G (n.2027+15T>G) n.2204+15T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.7209855T= | CA2014448464 | PEX5 | c.1718+15T= (n.1718+15T=) c.1607+15T= (n.1607+15T=) c.1694+15T= (n.1694+15T=) c.1781+15T= (n.1781+15T=) c.1763+15T= (n.1763+15T=) c.1670+15T= (n.1670+15T=) c.1826+15T= (n.1826+15T=) c.1715+15T= (n.1715+15T=) c.1469+15T= (n.1469+15T=) c.1709+15T= (n.1709+15T=) c.1652+15T= (n.1652+15T=) c.1583+15T= (n.1583+15T=) c.2162+15T= (n.2162+15T=) c.2051+15T= (n.2051+15T=) c.2027+15T= (n.2027+15T=) n.2204+15T= | |
12 | g.7209857A= | CA2014448465 | PEX5 | c.1718+17A= (n.1718+17A=) c.1607+17A= (n.1607+17A=) c.1694+17A= (n.1694+17A=) c.1781+17A= (n.1781+17A=) c.1763+17A= (n.1763+17A=) c.1670+17A= (n.1670+17A=) c.1826+17A= (n.1826+17A=) c.1715+17A= (n.1715+17A=) c.1469+17A= (n.1469+17A=) c.1709+17A= (n.1709+17A=) c.1652+17A= (n.1652+17A=) c.1583+17A= (n.1583+17A=) c.2162+17A= (n.2162+17A=) c.2051+17A= (n.2051+17A=) c.2027+17A= (n.2027+17A=) n.2204+17A= | |
12 | g.7209857A>G | CA6426561 | PEX5 | c.1718+17A>G (n.1718+17A>G) c.1607+17A>G (n.1607+17A>G) c.1694+17A>G (n.1694+17A>G) c.1781+17A>G (n.1781+17A>G) c.1763+17A>G (n.1763+17A>G) c.1670+17A>G (n.1670+17A>G) c.1826+17A>G (n.1826+17A>G) c.1715+17A>G (n.1715+17A>G) c.1469+17A>G (n.1469+17A>G) c.1709+17A>G (n.1709+17A>G) c.1652+17A>G (n.1652+17A>G) c.1583+17A>G (n.1583+17A>G) c.2162+17A>G (n.2162+17A>G) c.2051+17A>G (n.2051+17A>G) c.2027+17A>G (n.2027+17A>G) n.2204+17A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.7209858G>C | CA2014448466 | PEX5 | c.1718+18G>C (n.1718+18G>C) c.1607+18G>C (n.1607+18G>C) c.1694+18G>C (n.1694+18G>C) c.1781+18G>C (n.1781+18G>C) c.1763+18G>C (n.1763+18G>C) c.1670+18G>C (n.1670+18G>C) c.1826+18G>C (n.1826+18G>C) c.1715+18G>C (n.1715+18G>C) c.1469+18G>C (n.1469+18G>C) c.1709+18G>C (n.1709+18G>C) c.1652+18G>C (n.1652+18G>C) c.1583+18G>C (n.1583+18G>C) c.2162+18G>C (n.2162+18G>C) c.2051+18G>C (n.2051+18G>C) c.2027+18G>C (n.2027+18G>C) n.2204+18G>C | ClinVar dbSNP |
12 | g.7209858G= | CA2014448467 | PEX5 | c.1718+18G= (n.1718+18G=) c.1607+18G= (n.1607+18G=) c.1694+18G= (n.1694+18G=) c.1781+18G= (n.1781+18G=) c.1763+18G= (n.1763+18G=) c.1670+18G= (n.1670+18G=) c.1826+18G= (n.1826+18G=) c.1715+18G= (n.1715+18G=) c.1469+18G= (n.1469+18G=) c.1709+18G= (n.1709+18G=) c.1652+18G= (n.1652+18G=) c.1583+18G= (n.1583+18G=) c.2162+18G= (n.2162+18G=) c.2051+18G= (n.2051+18G=) c.2027+18G= (n.2027+18G=) n.2204+18G= | |
12 | g.7209858_7209862delinsGAAAT | CA2014448468 | PEX5 | c.1718+18_1718+22delinsGAAAT (n.1718+18_1718+22delinsGAAAT) c.1607+18_1607+22delinsGAAAT (n.1607+18_1607+22delinsGAAAT) c.1694+18_1694+22delinsGAAAT (n.1694+18_1694+22delinsGAAAT) c.1781+18_1781+22delinsGAAAT (n.1781+18_1781+22delinsGAAAT) c.1763+18_1763+22delinsGAAAT (n.1763+18_1763+22delinsGAAAT) c.1670+18_1670+22delinsGAAAT (n.1670+18_1670+22delinsGAAAT) c.1826+18_1826+22delinsGAAAT (n.1826+18_1826+22delinsGAAAT) c.1715+18_1715+22delinsGAAAT (n.1715+18_1715+22delinsGAAAT) c.1469+18_1469+22delinsGAAAT (n.1469+18_1469+22delinsGAAAT) c.1709+18_1709+22delinsGAAAT (n.1709+18_1709+22delinsGAAAT) c.1652+18_1652+22delinsGAAAT (n.1652+18_1652+22delinsGAAAT) c.1583+18_1583+22delinsGAAAT (n.1583+18_1583+22delinsGAAAT) c.2162+18_2162+22delinsGAAAT (n.2162+18_2162+22delinsGAAAT) c.2051+18_2051+22delinsGAAAT (n.2051+18_2051+22delinsGAAAT) c.2027+18_2027+22delinsGAAAT (n.2027+18_2027+22delinsGAAAT) n.2204+18_2204+22delinsGAAAT | |
12 | g.7209859A>G | CA2617416649 | PEX5 | c.1718+19A>G (n.1718+19A>G) c.1607+19A>G (n.1607+19A>G) c.1694+19A>G (n.1694+19A>G) c.1781+19A>G (n.1781+19A>G) c.1763+19A>G (n.1763+19A>G) c.1670+19A>G (n.1670+19A>G) c.1826+19A>G (n.1826+19A>G) c.1715+19A>G (n.1715+19A>G) c.1469+19A>G (n.1469+19A>G) c.1709+19A>G (n.1709+19A>G) c.1652+19A>G (n.1652+19A>G) c.1583+19A>G (n.1583+19A>G) c.2162+19A>G (n.2162+19A>G) c.2051+19A>G (n.2051+19A>G) c.2027+19A>G (n.2027+19A>G) n.2204+19A>G | ClinVar gnomAD v4 |
12 | g.7209859_7209862del | CA691585564 | PEX5 | c.1718+19_1718+22del (n.1718+19_1718+22del) c.1607+19_1607+22del (n.1607+19_1607+22del) c.1694+19_1694+22del (n.1694+19_1694+22del) c.1781+19_1781+22del (n.1781+19_1781+22del) c.1763+19_1763+22del (n.1763+19_1763+22del) c.1670+19_1670+22del (n.1670+19_1670+22del) c.1826+19_1826+22del (n.1826+19_1826+22del) c.1715+19_1715+22del (n.1715+19_1715+22del) c.1469+19_1469+22del (n.1469+19_1469+22del) c.1709+19_1709+22del (n.1709+19_1709+22del) c.1652+19_1652+22del (n.1652+19_1652+22del) c.1583+19_1583+22del (n.1583+19_1583+22del) c.2162+19_2162+22del (n.2162+19_2162+22del) c.2051+19_2051+22del (n.2051+19_2051+22del) c.2027+19_2027+22del (n.2027+19_2027+22del) n.2204+19_2204+22del | dbSNP gnomAD v3 gnomAD v4 |
12 | g.7209869_7209872dup | CA944417356 | PEX5 | c.1718+29_1718+32dup (n.1718+29_1718+32dup) c.1607+29_1607+32dup (n.1607+29_1607+32dup) c.1694+29_1694+32dup (n.1694+29_1694+32dup) c.1781+29_1781+32dup (n.1781+29_1781+32dup) c.1763+29_1763+32dup (n.1763+29_1763+32dup) c.1670+29_1670+32dup (n.1670+29_1670+32dup) c.1826+29_1826+32dup (n.1826+29_1826+32dup) c.1715+29_1715+32dup (n.1715+29_1715+32dup) c.1469+29_1469+32dup (n.1469+29_1469+32dup) c.1709+29_1709+32dup (n.1709+29_1709+32dup) c.1652+29_1652+32dup (n.1652+29_1652+32dup) c.1583+29_1583+32dup (n.1583+29_1583+32dup) c.2162+29_2162+32dup (n.2162+29_2162+32dup) c.2051+29_2051+32dup (n.2051+29_2051+32dup) c.2027+29_2027+32dup (n.2027+29_2027+32dup) n.2204+29_2204+32dup | gnomAD v3 gnomAD v4 |
12 | g.7209869_7209872del | CA2617416650 | PEX5 | c.1718+29_1718+32del (n.1718+29_1718+32del) c.1607+29_1607+32del (n.1607+29_1607+32del) c.1694+29_1694+32del (n.1694+29_1694+32del) c.1781+29_1781+32del (n.1781+29_1781+32del) c.1763+29_1763+32del (n.1763+29_1763+32del) c.1670+29_1670+32del (n.1670+29_1670+32del) c.1826+29_1826+32del (n.1826+29_1826+32del) c.1715+29_1715+32del (n.1715+29_1715+32del) c.1469+29_1469+32del (n.1469+29_1469+32del) c.1709+29_1709+32del (n.1709+29_1709+32del) c.1652+29_1652+32del (n.1652+29_1652+32del) c.1583+29_1583+32del (n.1583+29_1583+32del) c.2162+29_2162+32del (n.2162+29_2162+32del) c.2051+29_2051+32del (n.2051+29_2051+32del) c.2027+29_2027+32del (n.2027+29_2027+32del) n.2204+29_2204+32del | gnomAD v4 |
12 | g.7209861A= | CA2014448469 | PEX5 | c.1718+21A= (n.1718+21A=) c.1607+21A= (n.1607+21A=) c.1694+21A= (n.1694+21A=) c.1781+21A= (n.1781+21A=) c.1763+21A= (n.1763+21A=) c.1670+21A= (n.1670+21A=) c.1826+21A= (n.1826+21A=) c.1715+21A= (n.1715+21A=) c.1469+21A= (n.1469+21A=) c.1709+21A= (n.1709+21A=) c.1652+21A= (n.1652+21A=) c.1583+21A= (n.1583+21A=) c.2162+21A= (n.2162+21A=) c.2051+21A= (n.2051+21A=) c.2027+21A= (n.2027+21A=) n.2204+21A= | |
12 | g.7209861A>G | CA6426562 | PEX5 | c.1718+21A>G (n.1718+21A>G) c.1607+21A>G (n.1607+21A>G) c.1694+21A>G (n.1694+21A>G) c.1781+21A>G (n.1781+21A>G) c.1763+21A>G (n.1763+21A>G) c.1670+21A>G (n.1670+21A>G) c.1826+21A>G (n.1826+21A>G) c.1715+21A>G (n.1715+21A>G) c.1469+21A>G (n.1469+21A>G) c.1709+21A>G (n.1709+21A>G) c.1652+21A>G (n.1652+21A>G) c.1583+21A>G (n.1583+21A>G) c.2162+21A>G (n.2162+21A>G) c.2051+21A>G (n.2051+21A>G) c.2027+21A>G (n.2027+21A>G) n.2204+21A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.7209862T>C | CA2617416651 | PEX5 | c.1718+22T>C (n.1718+22T>C) c.1607+22T>C (n.1607+22T>C) c.1694+22T>C (n.1694+22T>C) c.1781+22T>C (n.1781+22T>C) c.1763+22T>C (n.1763+22T>C) c.1670+22T>C (n.1670+22T>C) c.1826+22T>C (n.1826+22T>C) c.1715+22T>C (n.1715+22T>C) c.1469+22T>C (n.1469+22T>C) c.1709+22T>C (n.1709+22T>C) c.1652+22T>C (n.1652+22T>C) c.1583+22T>C (n.1583+22T>C) c.2162+22T>C (n.2162+22T>C) c.2051+22T>C (n.2051+22T>C) c.2027+22T>C (n.2027+22T>C) n.2204+22T>C | gnomAD v4 |
12 | g.7209863G>C | CA2617416652 | PEX5 | c.1718+23G>C (n.1718+23G>C) c.1607+23G>C (n.1607+23G>C) c.1694+23G>C (n.1694+23G>C) c.1781+23G>C (n.1781+23G>C) c.1763+23G>C (n.1763+23G>C) c.1670+23G>C (n.1670+23G>C) c.1826+23G>C (n.1826+23G>C) c.1715+23G>C (n.1715+23G>C) c.1469+23G>C (n.1469+23G>C) c.1709+23G>C (n.1709+23G>C) c.1652+23G>C (n.1652+23G>C) c.1583+23G>C (n.1583+23G>C) c.2162+23G>C (n.2162+23G>C) c.2051+23G>C (n.2051+23G>C) c.2027+23G>C (n.2027+23G>C) n.2204+23G>C | gnomAD v4 |
12 | g.7209863_7209864del | CA2794442304 | PEX5 | c.1718+23_1718+24del (n.1718+23_1718+24del) c.1607+23_1607+24del (n.1607+23_1607+24del) c.1694+23_1694+24del (n.1694+23_1694+24del) c.1781+23_1781+24del (n.1781+23_1781+24del) c.1763+23_1763+24del (n.1763+23_1763+24del) c.1670+23_1670+24del (n.1670+23_1670+24del) c.1826+23_1826+24del (n.1826+23_1826+24del) c.1715+23_1715+24del (n.1715+23_1715+24del) c.1469+23_1469+24del (n.1469+23_1469+24del) c.1709+23_1709+24del (n.1709+23_1709+24del) c.1652+23_1652+24del (n.1652+23_1652+24del) c.1583+23_1583+24del (n.1583+23_1583+24del) c.2162+23_2162+24del (n.2162+23_2162+24del) c.2051+23_2051+24del (n.2051+23_2051+24del) c.2027+23_2027+24del (n.2027+23_2027+24del) n.2204+23_2204+24del | |
12 | g.7209864A= | CA2014448470 | PEX5 | c.1718+24A= (n.1718+24A=) c.1607+24A= (n.1607+24A=) c.1694+24A= (n.1694+24A=) c.1781+24A= (n.1781+24A=) c.1763+24A= (n.1763+24A=) c.1670+24A= (n.1670+24A=) c.1826+24A= (n.1826+24A=) c.1715+24A= (n.1715+24A=) c.1469+24A= (n.1469+24A=) c.1709+24A= (n.1709+24A=) c.1652+24A= (n.1652+24A=) c.1583+24A= (n.1583+24A=) c.2162+24A= (n.2162+24A=) c.2051+24A= (n.2051+24A=) c.2027+24A= (n.2027+24A=) n.2204+24A= | |
12 | g.7209864A>G | CA603488606 | PEX5 | c.1718+24A>G (n.1718+24A>G) c.1607+24A>G (n.1607+24A>G) c.1694+24A>G (n.1694+24A>G) c.1781+24A>G (n.1781+24A>G) c.1763+24A>G (n.1763+24A>G) c.1670+24A>G (n.1670+24A>G) c.1826+24A>G (n.1826+24A>G) c.1715+24A>G (n.1715+24A>G) c.1469+24A>G (n.1469+24A>G) c.1709+24A>G (n.1709+24A>G) c.1652+24A>G (n.1652+24A>G) c.1583+24A>G (n.1583+24A>G) c.2162+24A>G (n.2162+24A>G) c.2051+24A>G (n.2051+24A>G) c.2027+24A>G (n.2027+24A>G) n.2204+24A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.7209865_7209876delinsATGAATGAGCTT | CA2014448471 | PEX5 | c.1718+25_1718+36delinsATGAATGAGCTT (n.1718+25_1718+36delinsATGAATGAGCTT) c.1607+25_1607+36delinsATGAATGAGCTT (n.1607+25_1607+36delinsATGAATGAGCTT) c.1694+25_1694+36delinsATGAATGAGCTT (n.1694+25_1694+36delinsATGAATGAGCTT) c.1781+25_1781+36delinsATGAATGAGCTT (n.1781+25_1781+36delinsATGAATGAGCTT) c.1763+25_1763+36delinsATGAATGAGCTT (n.1763+25_1763+36delinsATGAATGAGCTT) c.1670+25_1670+36delinsATGAATGAGCTT (n.1670+25_1670+36delinsATGAATGAGCTT) c.1826+25_1826+36delinsATGAATGAGCTT (n.1826+25_1826+36delinsATGAATGAGCTT) c.1715+25_1715+36delinsATGAATGAGCTT (n.1715+25_1715+36delinsATGAATGAGCTT) c.1469+25_1469+36delinsATGAATGAGCTT (n.1469+25_1469+36delinsATGAATGAGCTT) c.1709+25_1709+36delinsATGAATGAGCTT (n.1709+25_1709+36delinsATGAATGAGCTT) c.1652+25_1652+36delinsATGAATGAGCTT (n.1652+25_1652+36delinsATGAATGAGCTT) c.1583+25_1583+36delinsATGAATGAGCTT (n.1583+25_1583+36delinsATGAATGAGCTT) c.2162+25_2162+36delinsATGAATGAGCTT (n.2162+25_2162+36delinsATGAATGAGCTT) c.2051+25_2051+36delinsATGAATGAGCTT (n.2051+25_2051+36delinsATGAATGAGCTT) c.2027+25_2027+36delinsATGAATGAGCTT (n.2027+25_2027+36delinsATGAATGAGCTT) n.2204+25_2204+36delinsATGAATGAGCTT | |
12 | g.7209865_7209866insCT | CA2794442305 | PEX5 | c.1718+25_1718+26insCT (n.1718+25_1718+26insCT) c.1607+25_1607+26insCT (n.1607+25_1607+26insCT) c.1694+25_1694+26insCT (n.1694+25_1694+26insCT) c.1781+25_1781+26insCT (n.1781+25_1781+26insCT) c.1763+25_1763+26insCT (n.1763+25_1763+26insCT) c.1670+25_1670+26insCT (n.1670+25_1670+26insCT) c.1826+25_1826+26insCT (n.1826+25_1826+26insCT) c.1715+25_1715+26insCT (n.1715+25_1715+26insCT) c.1469+25_1469+26insCT (n.1469+25_1469+26insCT) c.1709+25_1709+26insCT (n.1709+25_1709+26insCT) c.1652+25_1652+26insCT (n.1652+25_1652+26insCT) c.1583+25_1583+26insCT (n.1583+25_1583+26insCT) c.2162+25_2162+26insCT (n.2162+25_2162+26insCT) c.2051+25_2051+26insCT (n.2051+25_2051+26insCT) c.2027+25_2027+26insCT (n.2027+25_2027+26insCT) n.2204+25_2204+26insCT | |
12 | g.7209866T>A | CA2794442306 | PEX5 | c.1718+26T>A (n.1718+26T>A) c.1607+26T>A (n.1607+26T>A) c.1694+26T>A (n.1694+26T>A) c.1781+26T>A (n.1781+26T>A) c.1763+26T>A (n.1763+26T>A) c.1670+26T>A (n.1670+26T>A) c.1826+26T>A (n.1826+26T>A) c.1715+26T>A (n.1715+26T>A) c.1469+26T>A (n.1469+26T>A) c.1709+26T>A (n.1709+26T>A) c.1652+26T>A (n.1652+26T>A) c.1583+26T>A (n.1583+26T>A) c.2162+26T>A (n.2162+26T>A) c.2051+26T>A (n.2051+26T>A) c.2027+26T>A (n.2027+26T>A) n.2204+26T>A | |
12 | g.7209867_7209877del | CA603488607 | PEX5 | c.1718+27_1718+37del (n.1718+27_1718+37del) c.1607+27_1607+37del (n.1607+27_1607+37del) c.1694+27_1694+37del (n.1694+27_1694+37del) c.1781+27_1781+37del (n.1781+27_1781+37del) c.1763+27_1763+37del (n.1763+27_1763+37del) c.1670+27_1670+37del (n.1670+27_1670+37del) c.1826+27_1826+37del (n.1826+27_1826+37del) c.1715+27_1715+37del (n.1715+27_1715+37del) c.1469+27_1469+37del (n.1469+27_1469+37del) c.1709+27_1709+37del (n.1709+27_1709+37del) c.1652+27_1652+37del (n.1652+27_1652+37del) c.1583+27_1583+37del (n.1583+27_1583+37del) c.2162+27_2162+37del (n.2162+27_2162+37del) c.2051+27_2051+37del (n.2051+27_2051+37del) c.2027+27_2027+37del (n.2027+27_2027+37del) n.2204+27_2204+37del | dbSNP gnomAD v2 gnomAD v4 |
12 | g.7209866_7209867insA | CA2794442307 | PEX5 | c.1718+26_1718+27insA (n.1718+26_1718+27insA) c.1607+26_1607+27insA (n.1607+26_1607+27insA) c.1694+26_1694+27insA (n.1694+26_1694+27insA) c.1781+26_1781+27insA (n.1781+26_1781+27insA) c.1763+26_1763+27insA (n.1763+26_1763+27insA) c.1670+26_1670+27insA (n.1670+26_1670+27insA) c.1826+26_1826+27insA (n.1826+26_1826+27insA) c.1715+26_1715+27insA (n.1715+26_1715+27insA) c.1469+26_1469+27insA (n.1469+26_1469+27insA) c.1709+26_1709+27insA (n.1709+26_1709+27insA) c.1652+26_1652+27insA (n.1652+26_1652+27insA) c.1583+26_1583+27insA (n.1583+26_1583+27insA) c.2162+26_2162+27insA (n.2162+26_2162+27insA) c.2051+26_2051+27insA (n.2051+26_2051+27insA) c.2027+26_2027+27insA (n.2027+26_2027+27insA) n.2204+26_2204+27insA | |
12 | g.7209866_7209867insAGC | CA2794442308 | PEX5 | c.1718+26_1718+27insAGC (n.1718+26_1718+27insAGC) c.1607+26_1607+27insAGC (n.1607+26_1607+27insAGC) c.1694+26_1694+27insAGC (n.1694+26_1694+27insAGC) c.1781+26_1781+27insAGC (n.1781+26_1781+27insAGC) c.1763+26_1763+27insAGC (n.1763+26_1763+27insAGC) c.1670+26_1670+27insAGC (n.1670+26_1670+27insAGC) c.1826+26_1826+27insAGC (n.1826+26_1826+27insAGC) c.1715+26_1715+27insAGC (n.1715+26_1715+27insAGC) c.1469+26_1469+27insAGC (n.1469+26_1469+27insAGC) c.1709+26_1709+27insAGC (n.1709+26_1709+27insAGC) c.1652+26_1652+27insAGC (n.1652+26_1652+27insAGC) c.1583+26_1583+27insAGC (n.1583+26_1583+27insAGC) c.2162+26_2162+27insAGC (n.2162+26_2162+27insAGC) c.2051+26_2051+27insAGC (n.2051+26_2051+27insAGC) c.2027+26_2027+27insAGC (n.2027+26_2027+27insAGC) n.2204+26_2204+27insAGC | |
12 | g.7209867del | CA2794442309 | PEX5 | c.1718+27del (n.1718+27del) c.1607+27del (n.1607+27del) c.1694+27del (n.1694+27del) c.1781+27del (n.1781+27del) c.1763+27del (n.1763+27del) c.1670+27del (n.1670+27del) c.1826+27del (n.1826+27del) c.1715+27del (n.1715+27del) c.1469+27del (n.1469+27del) c.1709+27del (n.1709+27del) c.1652+27del (n.1652+27del) c.1583+27del (n.1583+27del) c.2162+27del (n.2162+27del) c.2051+27del (n.2051+27del) c.2027+27del (n.2027+27del) n.2204+27del | |
12 | g.7209867G>A | CA6426563 | PEX5 | c.1718+27G>A (n.1718+27G>A) c.1607+27G>A (n.1607+27G>A) c.1694+27G>A (n.1694+27G>A) c.1781+27G>A (n.1781+27G>A) c.1763+27G>A (n.1763+27G>A) c.1670+27G>A (n.1670+27G>A) c.1826+27G>A (n.1826+27G>A) c.1715+27G>A (n.1715+27G>A) c.1469+27G>A (n.1469+27G>A) c.1709+27G>A (n.1709+27G>A) c.1652+27G>A (n.1652+27G>A) c.1583+27G>A (n.1583+27G>A) c.2162+27G>A (n.2162+27G>A) c.2051+27G>A (n.2051+27G>A) c.2027+27G>A (n.2027+27G>A) n.2204+27G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.7209867G>C | CA691585573 | PEX5 | c.1718+27G>C (n.1718+27G>C) c.1607+27G>C (n.1607+27G>C) c.1694+27G>C (n.1694+27G>C) c.1781+27G>C (n.1781+27G>C) c.1763+27G>C (n.1763+27G>C) c.1670+27G>C (n.1670+27G>C) c.1826+27G>C (n.1826+27G>C) c.1715+27G>C (n.1715+27G>C) c.1469+27G>C (n.1469+27G>C) c.1709+27G>C (n.1709+27G>C) c.1652+27G>C (n.1652+27G>C) c.1583+27G>C (n.1583+27G>C) c.2162+27G>C (n.2162+27G>C) c.2051+27G>C (n.2051+27G>C) c.2027+27G>C (n.2027+27G>C) n.2204+27G>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.7209867G= | CA2014448472 | PEX5 | c.1718+27G= (n.1718+27G=) c.1607+27G= (n.1607+27G=) c.1694+27G= (n.1694+27G=) c.1781+27G= (n.1781+27G=) c.1763+27G= (n.1763+27G=) c.1670+27G= (n.1670+27G=) c.1826+27G= (n.1826+27G=) c.1715+27G= (n.1715+27G=) c.1469+27G= (n.1469+27G=) c.1709+27G= (n.1709+27G=) c.1652+27G= (n.1652+27G=) c.1583+27G= (n.1583+27G=) c.2162+27G= (n.2162+27G=) c.2051+27G= (n.2051+27G=) c.2027+27G= (n.2027+27G=) n.2204+27G= |