Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.7209761C>ACA478523385PEX5c.1639C>A (p.Arg547=)
c.1528C>A (p.Arg510=)
c.1615C>A (p.Arg539=)
c.1702C>A (p.Arg568=)
c.1684C>A (p.Arg562=)
c.1591C>A (p.Arg531=)
c.1747C>A (p.Arg583=)
c.1636C>A (p.Arg546=)
c.1390C>A (p.Arg464=)
c.1630C>A (p.Arg544=)
c.1573C>A (p.Arg525=)
c.1504C>A (p.Arg502=)
c.2083C>A (p.Arg695=)
c.1972C>A (p.Arg658=)
c.1948C>A (p.Arg650=)
n.2125C>A
12g.7209761C=CA2014448415PEX5c.1639C= (p.Arg547=)
c.1528C= (p.Arg510=)
c.1615C= (p.Arg539=)
c.1702C= (p.Arg568=)
c.1684C= (p.Arg562=)
c.1591C= (p.Arg531=)
c.1747C= (p.Arg583=)
c.1636C= (p.Arg546=)
c.1390C= (p.Arg464=)
c.1630C= (p.Arg544=)
c.1573C= (p.Arg525=)
c.1504C= (p.Arg502=)
c.2083C= (p.Arg695=)
c.1972C= (p.Arg658=)
c.1948C= (p.Arg650=)
n.2125C=
12g.7209761C>GCA383738213PEX5c.1639C>G (p.Arg547Gly)
c.1528C>G (p.Arg510Gly)
c.1615C>G (p.Arg539Gly)
c.1702C>G (p.Arg568Gly)
c.1684C>G (p.Arg562Gly)
c.1591C>G (p.Arg531Gly)
c.1747C>G (p.Arg583Gly)
c.1636C>G (p.Arg546Gly)
c.1390C>G (p.Arg464Gly)
c.1630C>G (p.Arg544Gly)
c.1573C>G (p.Arg525Gly)
c.1504C>G (p.Arg502Gly)
c.2083C>G (p.Arg695Gly)
c.1972C>G (p.Arg658Gly)
c.1948C>G (p.Arg650Gly)
n.2125C>G
12g.7209761C>TCA6426533PEX5c.1639C>T (p.Arg547Trp)
c.1528C>T (p.Arg510Trp)
c.1615C>T (p.Arg539Trp)
c.1702C>T (p.Arg568Trp)
c.1684C>T (p.Arg562Trp)
c.1591C>T (p.Arg531Trp)
c.1747C>T (p.Arg583Trp)
c.1636C>T (p.Arg546Trp)
c.1390C>T (p.Arg464Trp)
c.1630C>T (p.Arg544Trp)
c.1573C>T (p.Arg525Trp)
c.1504C>T (p.Arg502Trp)
c.2083C>T (p.Arg695Trp)
c.1972C>T (p.Arg658Trp)
c.1948C>T (p.Arg650Trp)
n.2125C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.7209762G>ACA6426534PEX5c.1640G>A (p.Arg547Gln)
c.1529G>A (p.Arg510Gln)
c.1616G>A (p.Arg539Gln)
c.1703G>A (p.Arg568Gln)
c.1685G>A (p.Arg562Gln)
c.1592G>A (p.Arg531Gln)
c.1748G>A (p.Arg583Gln)
c.1637G>A (p.Arg546Gln)
c.1391G>A (p.Arg464Gln)
c.1631G>A (p.Arg544Gln)
c.1574G>A (p.Arg525Gln)
c.1505G>A (p.Arg502Gln)
c.2084G>A (p.Arg695Gln)
c.1973G>A (p.Arg658Gln)
c.1949G>A (p.Arg650Gln)
n.2126G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.7209762G>CCA383738219PEX5c.1640G>C (p.Arg547Pro)
c.1529G>C (p.Arg510Pro)
c.1616G>C (p.Arg539Pro)
c.1703G>C (p.Arg568Pro)
c.1685G>C (p.Arg562Pro)
c.1592G>C (p.Arg531Pro)
c.1748G>C (p.Arg583Pro)
c.1637G>C (p.Arg546Pro)
c.1391G>C (p.Arg464Pro)
c.1631G>C (p.Arg544Pro)
c.1574G>C (p.Arg525Pro)
c.1505G>C (p.Arg502Pro)
c.2084G>C (p.Arg695Pro)
c.1973G>C (p.Arg658Pro)
c.1949G>C (p.Arg650Pro)
n.2126G>C
12g.7209762G=CA2014448416PEX5c.1640G= (p.Arg547=)
c.1529G= (p.Arg510=)
c.1616G= (p.Arg539=)
c.1703G= (p.Arg568=)
c.1685G= (p.Arg562=)
c.1592G= (p.Arg531=)
c.1748G= (p.Arg583=)
c.1637G= (p.Arg546=)
c.1391G= (p.Arg464=)
c.1631G= (p.Arg544=)
c.1574G= (p.Arg525=)
c.1505G= (p.Arg502=)
c.2084G= (p.Arg695=)
c.1973G= (p.Arg658=)
c.1949G= (p.Arg650=)
n.2126G=
12g.7209762G>TCA383738222PEX5c.1640G>T (p.Arg547Leu)
c.1529G>T (p.Arg510Leu)
c.1616G>T (p.Arg539Leu)
c.1703G>T (p.Arg568Leu)
c.1685G>T (p.Arg562Leu)
c.1592G>T (p.Arg531Leu)
c.1748G>T (p.Arg583Leu)
c.1637G>T (p.Arg546Leu)
c.1391G>T (p.Arg464Leu)
c.1631G>T (p.Arg544Leu)
c.1574G>T (p.Arg525Leu)
c.1505G>T (p.Arg502Leu)
c.2084G>T (p.Arg695Leu)
c.1973G>T (p.Arg658Leu)
c.1949G>T (p.Arg650Leu)
n.2126G>T
12g.7209763G>ACA478523390PEX5c.1641G>A (p.Arg547=)
c.1530G>A (p.Arg510=)
c.1617G>A (p.Arg539=)
c.1704G>A (p.Arg568=)
c.1686G>A (p.Arg562=)
c.1593G>A (p.Arg531=)
c.1749G>A (p.Arg583=)
c.1638G>A (p.Arg546=)
c.1392G>A (p.Arg464=)
c.1632G>A (p.Arg544=)
c.1575G>A (p.Arg525=)
c.1506G>A (p.Arg502=)
c.2085G>A (p.Arg695=)
c.1974G>A (p.Arg658=)
c.1950G>A (p.Arg650=)
n.2127G>A
12g.7209763G>CCA478523391PEX5c.1641G>C (p.Arg547=)
c.1530G>C (p.Arg510=)
c.1617G>C (p.Arg539=)
c.1704G>C (p.Arg568=)
c.1686G>C (p.Arg562=)
c.1593G>C (p.Arg531=)
c.1749G>C (p.Arg583=)
c.1638G>C (p.Arg546=)
c.1392G>C (p.Arg464=)
c.1632G>C (p.Arg544=)
c.1575G>C (p.Arg525=)
c.1506G>C (p.Arg502=)
c.2085G>C (p.Arg695=)
c.1974G>C (p.Arg658=)
c.1950G>C (p.Arg650=)
n.2127G>C
12g.7209763G>TCA478523392PEX5c.1641G>T (p.Arg547=)
c.1530G>T (p.Arg510=)
c.1617G>T (p.Arg539=)
c.1704G>T (p.Arg568=)
c.1686G>T (p.Arg562=)
c.1593G>T (p.Arg531=)
c.1749G>T (p.Arg583=)
c.1638G>T (p.Arg546=)
c.1392G>T (p.Arg464=)
c.1632G>T (p.Arg544=)
c.1575G>T (p.Arg525=)
c.1506G>T (p.Arg502=)
c.2085G>T (p.Arg695=)
c.1974G>T (p.Arg658=)
c.1950G>T (p.Arg650=)
n.2127G>T
12g.7209764G>ACA383738224PEX5c.1642G>A (p.Ala548Thr)
c.1531G>A (p.Ala511Thr)
c.1618G>A (p.Ala540Thr)
c.1705G>A (p.Ala569Thr)
c.1687G>A (p.Ala563Thr)
c.1594G>A (p.Ala532Thr)
c.1750G>A (p.Ala584Thr)
c.1639G>A (p.Ala547Thr)
c.1393G>A (p.Ala465Thr)
c.1633G>A (p.Ala545Thr)
c.1576G>A (p.Ala526Thr)
c.1507G>A (p.Ala503Thr)
c.2086G>A (p.Ala696Thr)
c.1975G>A (p.Ala659Thr)
c.1951G>A (p.Ala651Thr)
n.2128G>A
12g.7209764G>CCA383738229PEX5c.1642G>C (p.Ala548Pro)
c.1531G>C (p.Ala511Pro)
c.1618G>C (p.Ala540Pro)
c.1705G>C (p.Ala569Pro)
c.1687G>C (p.Ala563Pro)
c.1594G>C (p.Ala532Pro)
c.1750G>C (p.Ala584Pro)
c.1639G>C (p.Ala547Pro)
c.1393G>C (p.Ala465Pro)
c.1633G>C (p.Ala545Pro)
c.1576G>C (p.Ala526Pro)
c.1507G>C (p.Ala503Pro)
c.2086G>C (p.Ala696Pro)
c.1975G>C (p.Ala659Pro)
c.1951G>C (p.Ala651Pro)
n.2128G>C
12g.7209764G>TCA383738226PEX5c.1642G>T (p.Ala548Ser)
c.1531G>T (p.Ala511Ser)
c.1618G>T (p.Ala540Ser)
c.1705G>T (p.Ala569Ser)
c.1687G>T (p.Ala563Ser)
c.1594G>T (p.Ala532Ser)
c.1750G>T (p.Ala584Ser)
c.1639G>T (p.Ala547Ser)
c.1393G>T (p.Ala465Ser)
c.1633G>T (p.Ala545Ser)
c.1576G>T (p.Ala526Ser)
c.1507G>T (p.Ala503Ser)
c.2086G>T (p.Ala696Ser)
c.1975G>T (p.Ala659Ser)
c.1951G>T (p.Ala651Ser)
n.2128G>T
12g.7209765C>ACA383738233PEX5c.1643C>A (p.Ala548Asp)
c.1532C>A (p.Ala511Asp)
c.1619C>A (p.Ala540Asp)
c.1706C>A (p.Ala569Asp)
c.1688C>A (p.Ala563Asp)
c.1595C>A (p.Ala532Asp)
c.1751C>A (p.Ala584Asp)
c.1640C>A (p.Ala547Asp)
c.1394C>A (p.Ala465Asp)
c.1634C>A (p.Ala545Asp)
c.1577C>A (p.Ala526Asp)
c.1508C>A (p.Ala503Asp)
c.2087C>A (p.Ala696Asp)
c.1976C>A (p.Ala659Asp)
c.1952C>A (p.Ala651Asp)
n.2129C>A
12g.7209765C>GCA383738235PEX5c.1643C>G (p.Ala548Gly)
c.1532C>G (p.Ala511Gly)
c.1619C>G (p.Ala540Gly)
c.1706C>G (p.Ala569Gly)
c.1688C>G (p.Ala563Gly)
c.1595C>G (p.Ala532Gly)
c.1751C>G (p.Ala584Gly)
c.1640C>G (p.Ala547Gly)
c.1394C>G (p.Ala465Gly)
c.1634C>G (p.Ala545Gly)
c.1577C>G (p.Ala526Gly)
c.1508C>G (p.Ala503Gly)
c.2087C>G (p.Ala696Gly)
c.1976C>G (p.Ala659Gly)
c.1952C>G (p.Ala651Gly)
n.2129C>G
12g.7209765C>TCA383738237PEX5c.1643C>T (p.Ala548Val)
c.1532C>T (p.Ala511Val)
c.1619C>T (p.Ala540Val)
c.1706C>T (p.Ala569Val)
c.1688C>T (p.Ala563Val)
c.1595C>T (p.Ala532Val)
c.1751C>T (p.Ala584Val)
c.1640C>T (p.Ala547Val)
c.1394C>T (p.Ala465Val)
c.1634C>T (p.Ala545Val)
c.1577C>T (p.Ala526Val)
c.1508C>T (p.Ala503Val)
c.2087C>T (p.Ala696Val)
c.1976C>T (p.Ala659Val)
c.1952C>T (p.Ala651Val)
n.2129C>T
12g.7209766C>ACA478523396PEX5c.1644C>A (p.Ala548=)
c.1533C>A (p.Ala511=)
c.1620C>A (p.Ala540=)
c.1707C>A (p.Ala569=)
c.1689C>A (p.Ala563=)
c.1596C>A (p.Ala532=)
c.1752C>A (p.Ala584=)
c.1641C>A (p.Ala547=)
c.1395C>A (p.Ala465=)
c.1635C>A (p.Ala545=)
c.1578C>A (p.Ala526=)
c.1509C>A (p.Ala503=)
c.2088C>A (p.Ala696=)
c.1977C>A (p.Ala659=)
c.1953C>A (p.Ala651=)
n.2130C>A
12g.7209766C=CA2014448417PEX5c.1644C= (p.Ala548=)
c.1533C= (p.Ala511=)
c.1620C= (p.Ala540=)
c.1707C= (p.Ala569=)
c.1689C= (p.Ala563=)
c.1596C= (p.Ala532=)
c.1752C= (p.Ala584=)
c.1641C= (p.Ala547=)
c.1395C= (p.Ala465=)
c.1635C= (p.Ala545=)
c.1578C= (p.Ala526=)
c.1509C= (p.Ala503=)
c.2088C= (p.Ala696=)
c.1977C= (p.Ala659=)
c.1953C= (p.Ala651=)
n.2130C=
12g.7209766C>GCA478523397PEX5c.1644C>G (p.Ala548=)
c.1533C>G (p.Ala511=)
c.1620C>G (p.Ala540=)
c.1707C>G (p.Ala569=)
c.1689C>G (p.Ala563=)
c.1596C>G (p.Ala532=)
c.1752C>G (p.Ala584=)
c.1641C>G (p.Ala547=)
c.1395C>G (p.Ala465=)
c.1635C>G (p.Ala545=)
c.1578C>G (p.Ala526=)
c.1509C>G (p.Ala503=)
c.2088C>G (p.Ala696=)
c.1977C>G (p.Ala659=)
c.1953C>G (p.Ala651=)
n.2130C>G
12g.7209766C>TCA232477023PEX5c.1644C>T (p.Ala548=)
c.1533C>T (p.Ala511=)
c.1620C>T (p.Ala540=)
c.1707C>T (p.Ala569=)
c.1689C>T (p.Ala563=)
c.1596C>T (p.Ala532=)
c.1752C>T (p.Ala584=)
c.1641C>T (p.Ala547=)
c.1395C>T (p.Ala465=)
c.1635C>T (p.Ala545=)
c.1578C>T (p.Ala526=)
c.1509C>T (p.Ala503=)
c.2088C>T (p.Ala696=)
c.1977C>T (p.Ala659=)
c.1953C>T (p.Ala651=)
n.2130C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.7209767C>ACA383738241PEX5c.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
12g.7209767C>GCA383738244PEX5c.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
12g.7209767C>TCA383738253PEX5c.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
12g.7209768T>ACA383738257PEX5c.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
12g.7209768T>CCA383738260PEX5c.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
12g.7209768T>GCA383738263PEX5c.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
12g.7209769C>ACA478523401PEX5c.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
12g.7209769C=CA2014448418PEX5c.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=
12g.7209769C>GCA10633554PEX5c.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
12g.7209769C>TCA6426535PEX5c.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
12g.7209770G>ACA383738276PEX5c.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
12g.7209770G>CCA383738271PEX5c.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
12g.7209770G=CA2014448419PEX5c.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=
12g.7209770G>TCA383738274PEX5c.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
12g.7209771A>CCA383738280PEX5c.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
12g.7209771A>GCA383738283PEX5c.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
12g.7209771A>TCA383738287PEX5c.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
12g.7209772G>ACA478523403PEX5c.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
12g.7209772G>CCA383738288PEX5c.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
12g.7209772G>TCA383738289PEX5c.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
12g.7209773C>ACA383738290PEX5c.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
12g.7209773C>GCA383738291PEX5c.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
12g.7209773C>TCA383738293PEX5c.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
12g.7209774T>ACA383738298PEX5c.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
12g.7209774T>CCA383738300PEX5c.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
12g.7209774T>GCA383738305PEX5c.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
12g.7209775C>ACA478523404PEX5c.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
12g.7209775C=CA2014448420PEX5c.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=
12g.7209775C>GCA6426536PEX5c.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
12g.7209775C>TCA6426537PEX5c.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
12g.7209776C>ACA383738319PEX5c.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
12g.7209776C>GCA383738317PEX5c.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
12g.7209776C>TCA383738313PEX5c.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
12g.7209777A>CCA383738324PEX5c.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
12g.7209777A>GCA383738327PEX5c.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
12g.7209777A>TCA383738329PEX5c.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
12g.7209778G>ACA478523407PEX5c.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
12g.7209778G>CCA383738333PEX5c.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
12g.7209778G=CA2014448421PEX5c.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=
12g.7209778G>TCA6426538PEX5c.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
12g.7209779C>ACA383738334PEX5c.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
12g.7209779C>GCA383738335PEX5c.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
12g.7209779C>TCA383738337PEX5c.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
12g.7209780C>ACA383738342PEX5c.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
12g.7209780C>GCA383738345PEX5c.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
12g.7209780C>TCA383738347PEX5c.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
12g.7209781T>ACA478523410PEX5c.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
12g.7209781T>CCA478523411PEX5c.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
12g.7209781T>GCA478523412PEX5c.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
12g.7209781T=CA2014448422PEX5c.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=
12g.7209782G>ACA383738352PEX5c.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
12g.7209782G>CCA383738355PEX5c.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
12g.7209782G=CA2014448423PEX5c.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=
12g.7209782G>TCA383738357PEX5c.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
12g.7209783G>ACA383738366PEX5c.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
12g.7209783G>CCA383738364PEX5c.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
12g.7209783G>TCA383738361PEX5c.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
12g.7209784C>ACA478523413PEX5c.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
12g.7209784C=CA2014448424PEX5c.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=
12g.7209784C>GCA6426539PEX5c.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
12g.7209784C>TCA478523415PEX5c.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
12g.7209785delCA2617416646PEX5c.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
12g.7209785T>ACA383738373PEX5c.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
12g.7209785T>CCA383738376PEX5c.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
12g.7209785T>GCA383738379PEX5c.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
12g.7209786A=CA2014448425PEX5c.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=
12g.7209786A>CCA383738384PEX5c.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
12g.7209786A>GCA383738388PEX5c.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
12g.7209786A>TCA383738390PEX5c.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
12g.7209787T>ACA383738394PEX5c.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
12g.7209787T>CCA6426540PEX5c.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
12g.7209787T>GCA383738398PEX5c.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
12g.7209787T=CA2014448426PEX5c.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=
12g.7209788A>CCA383738403PEX5c.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
12g.7209788A>GCA383738407PEX5c.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
12g.7209788A>TCA383738408PEX5c.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
12g.7209789T>ACA383738420PEX5c.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
12g.7209789T>CCA383738413PEX5c.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
12g.7209789T>GCA383738416PEX5c.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
12g.7209790C>ACA478523425PEX5c.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
12g.7209790C=CA2014448427PEX5c.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=
12g.7209790C>GCA232477031PEX5c.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
12g.7209790C>TCA478523426PEX5c.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
12g.7209791C>ACA478523427PEX5c.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
12g.7209791C=CA2014448428PEX5c.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=
12g.7209791C>GCA383738429PEX5c.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
12g.7209791C>TCA383738432PEX5c.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
12g.7209792G>ACA383738439PEX5c.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
12g.7209792G>CCA383738442PEX5c.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
12g.7209792G=CA2014448429PEX5c.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=
12g.7209792G>TCA383738445PEX5c.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
12g.7209793G>ACA478523431PEX5c.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
12g.7209793G>CCA478523430PEX5c.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
12g.7209793G>TCA478523429PEX5c.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
12g.7209794T>ACA383738448PEX5c.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
12g.7209794T>CCA383738451PEX5c.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
12g.7209794T>GCA383738455PEX5c.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
12g.7209795C>ACA383738463PEX5c.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
12g.7209795C>GCA383738472PEX5c.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
12g.7209795C>TCA383738474PEX5c.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
12g.7209796C>ACA478523433PEX5c.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
12g.7209796C>GCA478523434PEX5c.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
12g.7209796C>TCA478523435PEX5c.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
12g.7209797C>ACA383738478PEX5c.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
12g.7209797C=CA2014448430PEX5c.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=
12g.7209797C>GCA383738482PEX5c.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
12g.7209797C>TCA6426541PEX5c.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
12g.7209798G>ACA383738491PEX5c.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
12g.7209798G>CCA383738497PEX5c.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
12g.7209798G=CA2014448431PEX5c.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=
12g.7209798G>TCA383738493PEX5c.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
12g.7209799C>ACA478523437PEX5c.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
12g.7209799C=CA2014448432PEX5c.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=
12g.7209799C>GCA478523438PEX5c.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
12g.7209799C>TCA6426542PEX5c.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
12g.7209800T>ACA383738501PEX5c.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
12g.7209800T>CCA6426543PEX5c.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
12g.7209800T>GCA383738507PEX5c.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
12g.7209800T=CA2014448433PEX5c.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=
12g.7209801A=CA2014448434PEX5c.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=
12g.7209801A>CCA383738511PEX5c.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
12g.7209801A>GCA6426544PEX5c.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
12g.7209801A>TCA383738515PEX5c.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
12g.7209802T>ACA383738526PEX5c.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
12g.7209802T>CCA478523442PEX5c.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
12g.7209802T>GCA383738529PEX5c.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
12g.7209803A>CCA383738534PEX5c.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
12g.7209803A>GCA383738537PEX5c.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
12g.7209803A>TCA383738540PEX5c.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
12g.7209804A>CCA383738547PEX5c.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
12g.7209804A>GCA383738548PEX5c.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
12g.7209804A>TCA383738554PEX5c.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
12g.7209805C>ACA383738558PEX5c.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
12g.7209805C=CA2014448435PEX5c.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=
12g.7209805C>GCA383738561PEX5c.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
12g.7209805C>TCA478523443PEX5c.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
12g.7209806C>ACA383738566PEX5c.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
12g.7209806C=CA2014448436PEX5c.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=
12g.7209806C>GCA383738572PEX5c.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
12g.7209806C>TCA478523446PEX5c.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
12g.7209807T>ACA383738574PEX5c.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
12g.7209807T>CCA383738578PEX5c.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
12g.7209807T>GCA383738581PEX5c.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
12g.7209808G>ACA232477070PEX5c.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
12g.7209808G>CCA478523449PEX5c.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
12g.7209808G=CA2014448437PEX5c.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=
12g.7209808G>TCA478523448PEX5c.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
12g.7209809G>ACA383738587PEX5c.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
12g.7209809G>CCA383738594PEX5c.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
12g.7209809G>TCA383738596PEX5c.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
12g.7209810G>ACA383738600PEX5c.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
12g.7209810G>CCA383738617PEX5c.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
12g.7209810G>TCA383738619PEX5c.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
12g.7209811C>ACA478523453PEX5c.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
12g.7209811C=CA2014448438PEX5c.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=
12g.7209811C>GCA478523454PEX5c.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
12g.7209811C>TCA6426545PEX5c.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
12g.7209812A=CA2014448439PEX5c.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=
12g.7209812A>CCA383738632PEX5c.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
12g.7209812A>GCA6426546PEX5c.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
12g.7209812A>TCA383738633PEX5c.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
12g.7209813T>ACA383738644PEX5c.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
12g.7209813T>CCA383738647PEX5c.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
12g.7209813T>GCA383738651PEX5c.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
12g.7209813T=CA2014448440PEX5c.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=
12g.7209814C>ACA478523461PEX5c.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
12g.7209814C=CA2014448441PEX5c.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=
12g.7209814C>GCA383738656PEX5c.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
12g.7209814C>TCA478523462PEX5c.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
12g.7209815A>CCA383738659PEX5c.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
12g.7209815A>GCA383738663PEX5c.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
12g.7209815A>TCA383738664PEX5c.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
12g.7209816G>ACA383738665PEX5c.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
12g.7209816G>CCA383738666PEX5c.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
12g.7209816G>TCA383738667PEX5c.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
12g.7209817C>ACA383738671PEX5c.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
12g.7209817C=CA2014448442PEX5c.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=
12g.7209817C>GCA383738673PEX5c.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
12g.7209817C>TCA6426547PEX5c.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
12g.7209818T>ACA383738677PEX5c.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
12g.7209818T>CCA383738681PEX5c.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
12g.7209818T>GCA383738678PEX5c.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
12g.7209819G>ACA383738684PEX5c.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
12g.7209819G>CCA383738689PEX5c.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
12g.7209819G>TCA383738693PEX5c.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
12g.7209820C>ACA383738695PEX5c.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
12g.7209820C>GCA383738697PEX5c.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
12g.7209820C>TCA478523472PEX5c.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
12g.7209820dupCA2575066174PEX5c.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
12g.7209821A=CA2014448443PEX5c.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=
12g.7209821A>CCA383738700PEX5c.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
12g.7209821A>GCA383738703PEX5c.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
12g.7209821A>TCA383738707PEX5c.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
12g.7209822T>ACA383738709PEX5c.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
12g.7209822T>CCA383738711PEX5c.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
12g.7209822T>GCA383738719PEX5c.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
12g.7209822T=CA2014448444PEX5c.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=
12g.7209823_7209852dupCA603488600PEX5c.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
12g.7209823_7209855dupCA944417343PEX5c.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
12g.7209823C>ACA478523474PEX5c.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
12g.7209823C=CA2014448445PEX5c.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=
12g.7209823C>GCA383738721PEX5c.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
12g.7209823C>TCA6426548PEX5c.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
12g.7209824_7209827dupCA603488601PEX5c.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
12g.7209824A>CCA383738727PEX5c.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
12g.7209824A>GCA383738736PEX5c.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
12g.7209824A>TCA383738731PEX5c.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
12g.7209825A>CCA383738737PEX5c.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
12g.7209825A>GCA383738738PEX5c.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
12g.7209825A>TCA383738739PEX5c.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
12g.7209826C>ACA383738742PEX5c.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
12g.7209826C=CA2014448446PEX5c.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=
12g.7209826C>GCA383738745PEX5c.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
12g.7209826C>TCA6426549PEX5c.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
12g.7209827C>ACA383738751PEX5c.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
12g.7209827C>GCA383738759PEX5c.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
12g.7209827C>TCA383738763PEX5c.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
12g.7209828T>ACA383738767PEX5c.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
12g.7209828T>CCA383738773PEX5c.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
12g.7209828T>GCA383738776PEX5c.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
12g.7209829C>ACA478523479PEX5c.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
12g.7209829C=CA2014448447PEX5c.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=
12g.7209829C>GCA478523481PEX5c.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
12g.7209829C>TCA6426550PEX5c.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
12g.7209829_7209845delCA2794442300PEX5c.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
12g.7209830G>ACA383738785PEX5c.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
12g.7209830G>CCA383738789PEX5c.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
12g.7209830G=CA2014448448PEX5c.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=
12g.7209830G>TCA383738792PEX5c.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
12g.7209831G>ACA383738797PEX5c.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
12g.7209831G>CCA383738801PEX5c.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
12g.7209831G>TCA383738806PEX5c.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
12g.7209832G>ACA478523484PEX5c.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
12g.7209832G>CCA478523486PEX5c.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
12g.7209832G>TCA478523487PEX5c.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
12g.7209833G>ACA383738810PEX5c.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
12g.7209833G>CCA383738814PEX5c.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
12g.7209833G>TCA383738818PEX5c.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
12g.7209834C>ACA383738822PEX5c.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
12g.7209834C>GCA383738827PEX5c.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
12g.7209834C>TCA383738829PEX5c.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
12g.7209835T>ACA478523490PEX5c.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
12g.7209835T>CCA478523491PEX5c.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
12g.7209835T>GCA478523492PEX5c.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
12g.7209835T=CA2014448449PEX5c.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=
12g.7209836C>ACA383738834PEX5c.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
12g.7209836C>GCA383738836PEX5c.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
12g.7209836C>TCA383738831PEX5c.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
12g.7209837A>CCA383738840PEX5c.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
12g.7209837A>GCA383738842PEX5c.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
12g.7209837A>TCA383738846PEX5c.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
12g.7209838C>ACA383738850PEX5c.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
12g.7209838C>GCA383738852PEX5c.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
12g.7209838C>TCA478523497PEX5c.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
12g.7209839C>ACA478523498PEX5c.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
12g.7209839C=CA2014448450PEX5c.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=
12g.7209839C>GCA383738856PEX5c.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
12g.7209839C>TCA6426551PEX5c.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
12g.7209840G>ACA6426552PEX5c.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
12g.7209840G>CCA383738869PEX5c.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
12g.7209840G=CA2014448451PEX5c.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=
12g.7209840G>TCA383738871PEX5c.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
12g.7209841G>ACA383738876PEX5c.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
12g.7209841G>CCA383738879PEX5c.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
12g.7209841G=CA2014448452PEX5c.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=
12g.7209841G>TCA383738884PEX5c.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
12g.7209842T>ACA383738899PEX5c.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
12g.7209842T>CCA383738897PEX5c.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
12g.7209842T>GCA383738889PEX5c.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
12g.7209842_7209844delinsTGACA2014448453PEX5c.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
12g.7209843delCA2794442301PEX5c.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
12g.7209846_7209847delCA691585528PEX5c.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
12g.7209844A=CA2014448454PEX5c.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=
12g.7209844A>GCA6426553PEX5c.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
12g.7209845G>ACA603488602PEX5c.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
12g.7209845G>CCA2794442302PEX5c.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
12g.7209845G=CA2014448455PEX5c.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=
12g.7209846A=CA2014448456PEX5c.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=
12g.7209846A>CCA603488603PEX5c.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
12g.7209846A>GCA6426554PEX5c.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
12g.7209847G>ACA6426557PEX5c.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
12g.7209847G=CA2014448458PEX5c.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=
12g.7209847G>TCA2591103646PEX5c.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
12g.7209847_7209849delinsGTACA2014448459PEX5c.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
12g.7209847_7209851delinsGTATCCA2014448457PEX5c.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
12g.7209848T>GCA6426558PEX5c.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
12g.7209848T=CA2014448460PEX5c.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=
12g.7209849_7209850delCA603488604PEX5c.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
12g.7209851_7209854dupCA6426555PEX5c.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
12g.7209851_7209854delCA6426556PEX5c.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
12g.7209848_7209849insTCTCCA2591103650PEX5c.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
12g.7209849A=CA2014448461PEX5c.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=
12g.7209849A>GCA2014448462PEX5c.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
12g.7209849_7209851dupCA603488605PEX5c.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
12g.7209851C>ACA2617416647PEX5c.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
12g.7209853A=CA2014448463PEX5c.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=
12g.7209853A>CCA2581068669PEX5c.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
12g.7209853A>GCA6426559PEX5c.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
12g.7209853A>TCA2581068670PEX5c.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
12g.7209854T>CCA2617416648PEX5c.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
12g.7209854_7209855insACACA2794442303PEX5c.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
12g.7209855T>CCA232477206PEX5c.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
12g.7209855T>GCA6426560PEX5c.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
12g.7209855T=CA2014448464PEX5c.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=
12g.7209857A=CA2014448465PEX5c.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=
12g.7209857A>GCA6426561PEX5c.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
12g.7209858G>CCA2014448466PEX5c.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
12g.7209858G=CA2014448467PEX5c.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=
12g.7209858_7209862delinsGAAATCA2014448468PEX5c.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
12g.7209859A>GCA2617416649PEX5c.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
12g.7209859_7209862delCA691585564PEX5c.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
12g.7209869_7209872dupCA944417356PEX5c.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
12g.7209869_7209872delCA2617416650PEX5c.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
12g.7209861A=CA2014448469PEX5c.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=
12g.7209861A>GCA6426562PEX5c.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

Number of alleles fetched