| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.153740624C>A | CA415112714 | ABCD1 | c.1685C>A (p.Ser562Ter) n.2157C>A | |
| X | g.153740624C>G | CA415112721 | ABCD1 | c.1685C>G (p.Ser562Ter) n.2157C>G | |
| X | g.153740624C>T | CA415112718 | ABCD1 | c.1685C>T (p.Ser562Leu) n.2157C>T | |
| X | g.153740625A>C | CA519226959 | ABCD1 | c.1686A>C (p.Ser562=) n.2158A>C | |
| X | g.153740625A>G | CA519226961 | ABCD1 | c.1686A>G (p.Ser562=) n.2158A>G | |
| X | g.153740625A>T | CA519226979 | ABCD1 | c.1686A>T (p.Ser562=) n.2158A>T | |
| X | g.153740626G>A | CA415112722 | ABCD1 | c.1687G>A (p.Val563Met) n.2159G>A | COSMIC |
| X | g.153740626G>C | CA415112724 | ABCD1 | c.1687G>C (p.Val563Leu) n.2159G>C | |
| X | g.153740626G>T | CA415112723 | ABCD1 | c.1687G>T (p.Val563Leu) n.2159G>T | |
| X | g.153740627T>A | CA415112727 | ABCD1 | c.1688T>A (p.Val563Glu) n.2160T>A | |
| X | g.153740627T>C | CA415112732 | ABCD1 | c.1688T>C (p.Val563Ala) n.2160T>C | |
| X | g.153740627T>G | CA415112735 | ABCD1 | c.1688T>G (p.Val563Gly) n.2160T>G | |
| X | g.153740628G>A | CA519227012 | ABCD1 | c.1689G>A (p.Val563=) n.2161G>A | |
| X | g.153740628G>C | CA519227009 | ABCD1 | c.1689G>C (p.Val563=) n.2161G>C | |
| X | g.153740628G>T | CA519227007 | ABCD1 | c.1689G>T (p.Val563=) n.2161G>T | |
| X | g.153740629del | CA2695236836 | ABCD1 | c.1690del (p.Glu564ArgfsTer?) n.2162del | |
| X | g.153740629G>A | CA415112739 | ABCD1 | c.1690G>A (p.Glu564Lys) n.2162G>A | |
| X | g.153740629G>C | CA415112744 | ABCD1 | c.1690G>C (p.Glu564Gln) n.2162G>C | |
| X | g.153740629G>T | CA415112747 | ABCD1 | c.1690G>T (p.Glu564Ter) n.2162G>T | |
| X | g.153740630A>C | CA415112753 | ABCD1 | c.1691A>C (p.Glu564Ala) n.2163A>C | |
| X | g.153740630A>G | CA415112755 | ABCD1 | c.1691A>G (p.Glu564Gly) n.2163A>G | |
| X | g.153740630A>T | CA415112756 | ABCD1 | c.1691A>T (p.Glu564Val) n.2163A>T | |
| X | g.153740631G>A | CA519227037 | ABCD1 | c.1692G>A (p.Glu564=) n.2164G>A | ClinVar gnomAD v4 |
| X | g.153740631G>C | CA415112758 | ABCD1 | c.1692G>C (p.Glu564Asp) n.2164G>C | |
| X | g.153740631G>T | CA415112760 | ABCD1 | c.1692G>T (p.Glu564Asp) n.2164G>T | |
| X | g.153740632G>A | CA415112772 | ABCD1 | c.1693G>A (p.Asp565Asn) n.2165G>A | |
| X | g.153740632G>C | CA415112769 | ABCD1 | c.1693G>C (p.Asp565His) n.2165G>C | |
| X | g.153740632G>T | CA415112765 | ABCD1 | c.1693G>T (p.Asp565Tyr) n.2165G>T | |
| X | g.153740633A= | CA2466456612 | ABCD1 | c.1694A= (p.Asp565=) n.2166A= | |
| X | g.153740633A>C | CA415112778 | ABCD1 | c.1694A>C (p.Asp565Ala) n.2166A>C | |
| X | g.153740633A>G | CA415112785 | ABCD1 | c.1694A>G (p.Asp565Gly) n.2166A>G | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153740633A>T | CA415112789 | ABCD1 | c.1694A>T (p.Asp565Val) n.2166A>T | |
| X | g.153740633_153740634delinsAC | CA2466456613 | ABCD1 | c.1694_1695delinsAC (p.Asp565=) n.2166_2167delinsAC | |
| X | g.153740634del | CA1139667831 | ABCD1 | c.1695del (p.Asp565GlufsTer?) n.2167del | ClinVar dbSNP |
| X | g.153740634C>A | CA415112796 | ABCD1 | c.1695C>A (p.Asp565Glu) n.2167C>A | |
| X | g.153740634C>G | CA415112798 | ABCD1 | c.1695C>G (p.Asp565Glu) n.2167C>G | |
| X | g.153740634C>T | CA519227071 | ABCD1 | c.1695C>T (p.Asp565=) n.2167C>T | |
| X | g.153740635A>C | CA415112804 | ABCD1 | c.1696A>C (p.Met566Leu) n.2168A>C | |
| X | g.153740635A>G | CA415112807 | ABCD1 | c.1696A>G (p.Met566Val) n.2168A>G | ClinVar |
| X | g.153740635A>T | CA415112808 | ABCD1 | c.1696A>T (p.Met566Leu) n.2168A>T | |
| X | g.153740636T>A | CA415112809 | ABCD1 | c.1697T>A (p.Met566Lys) n.2169T>A | |
| X | g.153740636T>C | CA415112810 | ABCD1 | c.1697T>C (p.Met566Thr) n.2169T>C | ClinVar dbSNP |
| X | g.153740636T>G | CA415112813 | ABCD1 | c.1697T>G (p.Met566Arg) n.2169T>G | |
| X | g.153740637G>A | CA415112815 | ABCD1 | c.1698G>A (p.Met566Ile) n.2170G>A | |
| X | g.153740637G>C | CA415112823 | ABCD1 | c.1698G>C (p.Met566Ile) n.2170G>C | |
| X | g.153740637G>T | CA415112817 | ABCD1 | c.1698G>T (p.Met566Ile) n.2170G>T | |
| X | g.153740638C>A | CA415112827 | ABCD1 | c.1699C>A (p.Gln567Lys) n.2171C>A | gnomAD v4 |
| X | g.153740638C= | CA2466456614 | ABCD1 | c.1699C= (p.Gln567=) n.2171C= | |
| X | g.153740638C>G | CA415112829 | ABCD1 | c.1699C>G (p.Gln567Glu) n.2171C>G | |
| X | g.153740638C>T | CA10550293 | ABCD1 | c.1699C>T (p.Gln567Ter) n.2171C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.153740639A= | CA2466456615 | ABCD1 | c.1700A= (p.Gln567=) n.2172A= | |
| X | g.153740639A>C | CA415112840 | ABCD1 | c.1700A>C (p.Gln567Pro) n.2172A>C | |
| X | g.153740639A>G | CA10550294 | ABCD1 | c.1700A>G (p.Gln567Arg) n.2172A>G | ClinVar dbSNP ExAC gnomAD v2 COSMIC |
| X | g.153740639A>T | CA415112844 | ABCD1 | c.1700A>T (p.Gln567Leu) n.2172A>T | |
| X | g.153740640A>C | CA415112872 | ABCD1 | c.1701A>C (p.Gln567His) n.2173A>C | |
| X | g.153740640A>G | CA519227115 | ABCD1 | c.1701A>G (p.Gln567=) n.2173A>G | |
| X | g.153740640A>T | CA415112881 | ABCD1 | c.1701A>T (p.Gln567His) n.2173A>T | |
| X | g.153740641A>C | CA519227126 | ABCD1 | c.1702A>C (p.Arg568=) n.2174A>C | |
| X | g.153740641A>G | CA415112883 | ABCD1 | c.1702A>G (p.Arg568Gly) n.2174A>G | |
| X | g.153740641A>T | CA415112885 | ABCD1 | c.1702A>T (p.Arg568Trp) n.2174A>T | |
| X | g.153740642G>A | CA415112895 | ABCD1 | c.1703G>A (p.Arg568Lys) n.2175G>A | gnomAD v4 |
| X | g.153740642G>C | CA415112890 | ABCD1 | c.1703G>C (p.Arg568Thr) n.2175G>C | |
| X | g.153740642G>T | CA415112893 | ABCD1 | c.1703G>T (p.Arg568Met) n.2175G>T | |
| X | g.153740643G>A | CA519227145 | ABCD1 | c.1704G>A (p.Arg568=) n.2176G>A | |
| X | g.153740643G>C | CA415112897 | ABCD1 | c.1704G>C (p.Arg568Ser) n.2176G>C | |
| X | g.153740643G>T | CA415112899 | ABCD1 | c.1704G>T (p.Arg568Ser) n.2176G>T | |
| X | g.153740644A>C | CA415112905 | ABCD1 | c.1705A>C (p.Lys569Gln) n.2177A>C | |
| X | g.153740644A>G | CA415112906 | ABCD1 | c.1705A>G (p.Lys569Glu) n.2177A>G | |
| X | g.153740644A>T | CA415112908 | ABCD1 | c.1705A>T (p.Lys569Ter) n.2177A>T | |
| X | g.153740645A= | CA2466456616 | ABCD1 | c.1706A= (p.Lys569=) n.2178A= | |
| X | g.153740645A>C | CA415112913 | ABCD1 | c.1706A>C (p.Lys569Thr) n.2178A>C | |
| X | g.153740645A>G | CA415112915 | ABCD1 | c.1706A>G (p.Lys569Arg) n.2178A>G | ClinVar dbSNP gnomAD v4 |
| X | g.153740645A>T | CA415112919 | ABCD1 | c.1706A>T (p.Lys569Met) n.2178A>T | |
| X | g.153740646G>A | CA519227167 | ABCD1 | c.1707G>A (p.Lys569=) n.2179G>A | |
| X | g.153740646G>C | CA415112921 | ABCD1 | c.1707G>C (p.Lys569Asn) n.2179G>C | |
| X | g.153740646G>T | CA415112923 | ABCD1 | c.1707G>T (p.Lys569Asn) n.2179G>T | |
| X | g.153740647G>A | CA415112927 | ABCD1 | c.1708G>A (p.Gly570Ser) n.2180G>A | |
| X | g.153740647G>C | CA415112929 | ABCD1 | c.1708G>C (p.Gly570Arg) n.2180G>C | |
| X | g.153740647G>T | CA415112926 | ABCD1 | c.1708G>T (p.Gly570Cys) n.2180G>T | |
| X | g.153740648G>A | CA415112935 | ABCD1 | c.1709G>A (p.Gly570Asp) n.2181G>A | |
| X | g.153740648G>C | CA415112932 | ABCD1 | c.1709G>C (p.Gly570Ala) n.2181G>C | |
| X | g.153740648G>T | CA415112934 | ABCD1 | c.1709G>T (p.Gly570Val) n.2181G>T | |
| X | g.153740649C>A | CA519227211 | ABCD1 | c.1710C>A (p.Gly570=) n.2182C>A | |
| X | g.153740649C>G | CA519227214 | ABCD1 | c.1710C>G (p.Gly570=) n.2182C>G | |
| X | g.153740649C>T | CA519227213 | ABCD1 | c.1710C>T (p.Gly570=) n.2182C>T | |
| X | g.153740650T>A | CA415112938 | ABCD1 | c.1711T>A (p.Tyr571Asn) n.2183T>A | |
| X | g.153740650T>C | CA415112941 | ABCD1 | c.1711T>C (p.Tyr571His) n.2183T>C | |
| X | g.153740650T>G | CA415112944 | ABCD1 | c.1711T>G (p.Tyr571Asp) n.2183T>G | |
| X | g.153740651A>C | CA415112947 | ABCD1 | c.1712A>C (p.Tyr571Ser) n.2184A>C | gnomAD v4 |
| X | g.153740651A>G | CA415112949 | ABCD1 | c.1712A>G (p.Tyr571Cys) n.2184A>G | |
| X | g.153740651A>T | CA415112950 | ABCD1 | c.1712A>T (p.Tyr571Phe) n.2184A>T | |
| X | g.153740653_153740664del | CA2695236837 | ABCD1 | c.1714_1725del (p.Ser572_Asp575del) n.2186_2197del | |
| X | g.153740652C>A | CA415112953 | ABCD1 | c.1713C>A (p.Tyr571Ter) n.2185C>A | |
| X | g.153740652C>G | CA415112954 | ABCD1 | c.1713C>G (p.Tyr571Ter) n.2185C>G | ClinVar |
| X | g.153740652C>T | CA519227233 | ABCD1 | c.1713C>T (p.Tyr571=) n.2185C>T | |
| X | g.153740653T>A | CA415112961 | ABCD1 | c.1714T>A (p.Ser572Thr) n.2186T>A | |
| X | g.153740653T>C | CA415112959 | ABCD1 | c.1714T>C (p.Ser572Pro) n.2186T>C | |
| X | g.153740653T>G | CA415112957 | ABCD1 | c.1714T>G (p.Ser572Ala) n.2186T>G | |
| X | g.153740654C>A | CA415112962 | ABCD1 | c.1715C>A (p.Ser572Ter) n.2187C>A | |
| X | g.153740654C= | CA2466456617 | ABCD1 | c.1715C= (p.Ser572=) n.2187C= | |
| X | g.153740654C>G | CA415112964 | ABCD1 | c.1715C>G (p.Ser572Trp) n.2187C>G | |
| X | g.153740654C>T | CA10550295 | ABCD1 | c.1715C>T (p.Ser572Leu) n.2187C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153740655G>A | CA519227263 | ABCD1 | c.1716G>A (p.Ser572=) n.2188G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153740655G>C | CA519227268 | ABCD1 | c.1716G>C (p.Ser572=) n.2188G>C | |
| X | g.153740655G= | CA2466456618 | ABCD1 | c.1716G= (p.Ser572=) n.2188G= | |
| X | g.153740655G>T | CA519227270 | ABCD1 | c.1716G>T (p.Ser572=) n.2188G>T | ClinVar dbSNP gnomAD v4 |
| X | g.153740656del | CA2695236838 | ABCD1 | c.1717del (p.Glu573SerfsTer?) n.2189del | |
| X | g.153740656G>A | CA415112968 | ABCD1 | c.1717G>A (p.Glu573Lys) n.2189G>A | |
| X | g.153740656G>C | CA415112970 | ABCD1 | c.1717G>C (p.Glu573Gln) n.2189G>C | |
| X | g.153740656G>T | CA415112971 | ABCD1 | c.1717G>T (p.Glu573Ter) n.2189G>T | |
| X | g.153740657A>C | CA415112972 | ABCD1 | c.1718A>C (p.Glu573Ala) n.2190A>C | |
| X | g.153740657A>G | CA415112973 | ABCD1 | c.1718A>G (p.Glu573Gly) n.2190A>G | |
| X | g.153740657A>T | CA415112975 | ABCD1 | c.1718A>T (p.Glu573Val) n.2190A>T | |
| X | g.153740658G>A | CA519227295 | ABCD1 | c.1719G>A (p.Glu573=) n.2191G>A | ClinVar dbSNP gnomAD v4 |
| X | g.153740658G>C | CA415112976 | ABCD1 | c.1719G>C (p.Glu573Asp) n.2191G>C | |
| X | g.153740658G>T | CA415112977 | ABCD1 | c.1719G>T (p.Glu573Asp) n.2191G>T | |
| X | g.153740659C>A | CA415112980 | ABCD1 | c.1720C>A (p.Gln574Lys) n.2192C>A | |
| X | g.153740659C>G | CA415112983 | ABCD1 | c.1720C>G (p.Gln574Glu) n.2192C>G | |
| X | g.153740659C>T | CA415112978 | ABCD1 | c.1720C>T (p.Gln574Ter) n.2192C>T | ClinVar dbSNP |
| X | g.153740660A>C | CA415112985 | ABCD1 | c.1721A>C (p.Gln574Pro) n.2193A>C | |
| X | g.153740660A>G | CA415112986 | ABCD1 | c.1721A>G (p.Gln574Arg) n.2193A>G | |
| X | g.153740660A>T | CA415112987 | ABCD1 | c.1721A>T (p.Gln574Leu) n.2193A>T | |
| X | g.153740661G>A | CA519227326 | ABCD1 | c.1722G>A (p.Gln574=) n.2194G>A | |
| X | g.153740661G>C | CA415112990 | ABCD1 | c.1722G>C (p.Gln574His) n.2194G>C | |
| X | g.153740661G>T | CA415112991 | ABCD1 | c.1722G>T (p.Gln574His) n.2194G>T | |
| X | g.153740662G>A | CA415112993 | ABCD1 | c.1723G>A (p.Asp575Asn) n.2195G>A | |
| X | g.153740662G>C | CA415112995 | ABCD1 | c.1723G>C (p.Asp575His) n.2195G>C | |
| X | g.153740662G>T | CA415112996 | ABCD1 | c.1723G>T (p.Asp575Tyr) n.2195G>T | |
| X | g.153740663A>C | CA415113000 | ABCD1 | c.1724A>C (p.Asp575Ala) n.2196A>C | |
| X | g.153740663A>G | CA415113001 | ABCD1 | c.1724A>G (p.Asp575Gly) n.2196A>G | |
| X | g.153740663A>T | CA415113003 | ABCD1 | c.1724A>T (p.Asp575Val) n.2196A>T | |
| X | g.153740664C>A | CA415113006 | ABCD1 | c.1725C>A (p.Asp575Glu) n.2197C>A | |
| X | g.153740664C>G | CA415113007 | ABCD1 | c.1725C>G (p.Asp575Glu) n.2197C>G | |
| X | g.153740664C>T | CA519227363 | ABCD1 | c.1725C>T (p.Asp575=) n.2197C>T | |
| X | g.153740665dup | CA2695236839 | ABCD1 | c.1726dup (p.Leu576ProfsTer25) n.2198dup | |
| X | g.153740670_153740681del | CA2739273815 | ABCD1 | c.1731_1742del (p.Glu577_Leu580del) n.2203_2214del | ClinVar |
| X | g.153740665C>A | CA415113010 | ABCD1 | c.1726C>A (p.Leu576Met) n.2198C>A | gnomAD v4 |
| X | g.153740665C>G | CA415113011 | ABCD1 | c.1726C>G (p.Leu576Val) n.2198C>G | |
| X | g.153740665C>T | CA519227372 | ABCD1 | c.1726C>T (p.Leu576=) n.2198C>T | |
| X | g.153740666T>A | CA415113015 | ABCD1 | c.1727T>A (p.Leu576Gln) n.2199T>A | |
| X | g.153740666T>C | CA415113018 | ABCD1 | c.1727T>C (p.Leu576Pro) n.2199T>C | |
| X | g.153740666T>G | CA415113019 | ABCD1 | c.1727T>G (p.Leu576Arg) n.2199T>G | |
| X | g.153740667G>A | CA519227382 | ABCD1 | c.1728G>A (p.Leu576=) n.2200G>A | dbSNP |
| X | g.153740667G>C | CA519227384 | ABCD1 | c.1728G>C (p.Leu576=) n.2200G>C | |
| X | g.153740667G= | CA2466456619 | ABCD1 | c.1728G= (p.Leu576=) n.2200G= | |
| X | g.153740667G>T | CA519227386 | ABCD1 | c.1728G>T (p.Leu576=) n.2200G>T | |
| X | g.153740668G>A | CA415113020 | ABCD1 | c.1729G>A (p.Glu577Lys) n.2201G>A | |
| X | g.153740668G>C | CA415113021 | ABCD1 | c.1729G>C (p.Glu577Gln) n.2201G>C | |
| X | g.153740668G>T | CA415113022 | ABCD1 | c.1729G>T (p.Glu577Ter) n.2201G>T | |
| X | g.153740669A>C | CA415113024 | ABCD1 | c.1730A>C (p.Glu577Ala) n.2202A>C | |
| X | g.153740669A>G | CA415113025 | ABCD1 | c.1730A>G (p.Glu577Gly) n.2202A>G | COSMIC |
| X | g.153740669A>T | CA415113027 | ABCD1 | c.1730A>T (p.Glu577Val) n.2202A>T | |
| X | g.153740670del | CA2695236840 | ABCD1 | c.1731del (p.Ala578ProfsTer?) n.2203del | |
| X | g.153740670A>C | CA415113029 | ABCD1 | c.1731A>C (p.Glu577Asp) n.2203A>C | |
| X | g.153740670A>G | CA519227405 | ABCD1 | c.1731A>G (p.Glu577=) n.2203A>G | |
| X | g.153740670A>T | CA415113031 | ABCD1 | c.1731A>T (p.Glu577Asp) n.2203A>T | |
| X | g.153740671G>A | CA10550296 | ABCD1 | c.1732G>A (p.Ala578Thr) n.2204G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153740671G>C | CA415113036 | ABCD1 | c.1732G>C (p.Ala578Pro) n.2204G>C | dbSNP gnomAD v3 gnomAD v4 |
| X | g.153740671G= | CA2466456620 | ABCD1 | c.1732G= (p.Ala578=) n.2204G= | |
| X | g.153740671G>T | CA415113034 | ABCD1 | c.1732G>T (p.Ala578Ser) n.2204G>T | |
| X | g.153740672C>A | CA415113040 | ABCD1 | c.1733C>A (p.Ala578Asp) n.2205C>A | |
| X | g.153740672C>G | CA415113044 | ABCD1 | c.1733C>G (p.Ala578Gly) n.2205C>G | |
| X | g.153740672C>T | CA415113042 | ABCD1 | c.1733C>T (p.Ala578Val) n.2205C>T | |
| X | g.153740673C>A | CA519227436 | ABCD1 | c.1734C>A (p.Ala578=) n.2206C>A | |
| X | g.153740673C= | CA2466456621 | ABCD1 | c.1734C= (p.Ala578=) n.2206C= | |
| X | g.153740673C>G | CA10550297 | ABCD1 | c.1734C>G (p.Ala578=) n.2206C>G | dbSNP ExAC gnomAD v4 |
| X | g.153740673C>T | CA519227444 | ABCD1 | c.1734C>T (p.Ala578=) n.2206C>T | ClinVar dbSNP |
| X | g.153740674A>C | CA415113054 | ABCD1 | c.1735A>C (p.Ile579Leu) n.2207A>C | |
| X | g.153740674A>G | CA415113048 | ABCD1 | c.1735A>G (p.Ile579Val) n.2207A>G | |
| X | g.153740674A>T | CA415113050 | ABCD1 | c.1735A>T (p.Ile579Phe) n.2207A>T | |
| X | g.153740674_153740683delinsATCCTGGACG | CA2466456622 | ABCD1 | c.1735_1744delinsATCCTGGACG (p.Ile579=) n.2207_2216delinsATCCTGGACG | |
| X | g.153740675T>A | CA415113059 | ABCD1 | c.1736T>A (p.Ile579Asn) n.2208T>A | |
| X | g.153740675T>C | CA415113061 | ABCD1 | c.1736T>C (p.Ile579Thr) n.2208T>C | |
| X | g.153740675T>G | CA415113063 | ABCD1 | c.1736T>G (p.Ile579Ser) n.2208T>G | |
| X | g.153740677_153740685del | CA915951988 | ABCD1 | c.1738_1746del (p.Leu580_Val582del) n.2210_2218del | ClinVar dbSNP |
| X | g.153740675_153740690delinsTCCTGGACGTCGTGCA | CA2466456623 | ABCD1 | c.1736_1751delinsTCCTGGACGTCGTGCA (p.Ile579=) n.2208_2223delinsTCCTGGACGTCGTGCA | |
| X | g.153740676C>A | CA519227469 | ABCD1 | c.1737C>A (p.Ile579=) n.2209C>A | |
| X | g.153740676C>G | CA415113066 | ABCD1 | c.1737C>G (p.Ile579Met) n.2209C>G | |
| X | g.153740676C>T | CA519227475 | ABCD1 | c.1737C>T (p.Ile579=) n.2209C>T | gnomAD v4 |
| X | g.153740680_153740694del | CA916084013 | ABCD1 | c.1741_1755del (p.Asp581_Leu585del) n.2213_2227del | ClinVar dbSNP |
| X | g.153740677C>A | CA415113071 | ABCD1 | c.1738C>A (p.Leu580Met) n.2210C>A | |
| X | g.153740677C>G | CA415113079 | ABCD1 | c.1738C>G (p.Leu580Val) n.2210C>G | |
| X | g.153740677C>T | CA519227487 | ABCD1 | c.1738C>T (p.Leu580=) n.2210C>T | |
| X | g.153740678T>A | CA415113082 | ABCD1 | c.1739T>A (p.Leu580Gln) n.2211T>A | |
| X | g.153740678T>C | CA415113084 | ABCD1 | c.1739T>C (p.Leu580Pro) n.2211T>C | |
| X | g.153740678T>G | CA415113087 | ABCD1 | c.1739T>G (p.Leu580Arg) n.2211T>G | |
| X | g.153740679G>A | CA519227501 | ABCD1 | c.1740G>A (p.Leu580=) n.2212G>A | dbSNP gnomAD v4 |
| X | g.153740679G>C | CA519227506 | ABCD1 | c.1740G>C (p.Leu580=) n.2212G>C | |
| X | g.153740679G= | CA2466456624 | ABCD1 | c.1740G= (p.Leu580=) n.2212G= | |
| X | g.153740679G>T | CA519227509 | ABCD1 | c.1740G>T (p.Leu580=) n.2212G>T | |
| X | g.153740681_153742019del | CA1139667832 | ABCD1 | c.1742_1781-968del n.2214_2253-968del | ClinVar |
| X | g.153740680G>A | CA415113097 | ABCD1 | c.1741G>A (p.Asp581Asn) n.2213G>A | |
| X | g.153740680G>C | CA415113091 | ABCD1 | c.1741G>C (p.Asp581His) n.2213G>C | |
| X | g.153740680G>T | CA415113094 | ABCD1 | c.1741G>T (p.Asp581Tyr) n.2213G>T | |
| X | g.153740681A>C | CA415113101 | ABCD1 | c.1742A>C (p.Asp581Ala) n.2214A>C | |
| X | g.153740681A>G | CA415113104 | ABCD1 | c.1742A>G (p.Asp581Gly) n.2214A>G | |
| X | g.153740681A>T | CA415113107 | ABCD1 | c.1742A>T (p.Asp581Val) n.2214A>T | |
| X | g.153740681_153740684delinsACGT | CA2466456625 | ABCD1 | c.1742_1745delinsACGT (p.Asp581=) n.2214_2217delinsACGT | |
| X | g.153740682C>A | CA415113110 | ABCD1 | c.1743C>A (p.Asp581Glu) n.2215C>A | |
| X | g.153740682C= | CA2466456626 | ABCD1 | c.1743C= (p.Asp581=) n.2215C= | |
| X | g.153740682C>G | CA415113113 | ABCD1 | c.1743C>G (p.Asp581Glu) n.2215C>G | |
| X | g.153740682C>T | CA10550298 | ABCD1 | c.1743C>T (p.Asp581=) n.2215C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153740685_153740687del | CA658659059 | ABCD1 | c.1746_1748del (p.Val583del) n.2218_2220del | ClinVar dbSNP |
| X | g.153740683G>A | CA249150 | ABCD1 | c.1744G>A (p.Val582Ile) n.2216G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153740683G>C | CA415113121 | ABCD1 | c.1744G>C (p.Val582Leu) n.2216G>C | |
| X | g.153740683G= | CA2466456627 | ABCD1 | c.1744G= (p.Val582=) n.2216G= | |
| X | g.153740683G>T | CA10550299 | ABCD1 | c.1744G>T (p.Val582Phe) n.2216G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153740684T>A | CA415113131 | ABCD1 | c.1745T>A (p.Val582Asp) n.2217T>A | |
| X | g.153740684T>C | CA415113128 | ABCD1 | c.1745T>C (p.Val582Ala) n.2217T>C | gnomAD v4 |
| X | g.153740684T>G | CA415113126 | ABCD1 | c.1745T>G (p.Val582Gly) n.2217T>G | |
| X | g.153740685del | CA2695236841 | ABCD1 | c.1746del (p.Val583CysfsTer?) n.2218del | |
| X | g.153740685C>A | CA519227565 | ABCD1 | c.1746C>A (p.Val582=) n.2218C>A | gnomAD v4 |
| X | g.153740685C= | CA2466456628 | ABCD1 | c.1746C= (p.Val582=) n.2218C= | |
| X | g.153740685C>G | CA519227568 | ABCD1 | c.1746C>G (p.Val582=) n.2218C>G | ClinVar dbSNP |
| X | g.153740685C>T | CA519227572 | ABCD1 | c.1746C>T (p.Val582=) n.2218C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.153740686G>A | CA415113133 | ABCD1 | c.1747G>A (p.Val583Met) n.2219G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.153740686G>C | CA415113135 | ABCD1 | c.1747G>C (p.Val583Leu) n.2219G>C | ClinVar |
| X | g.153740686G= | CA2466456629 | ABCD1 | c.1747G= (p.Val583=) n.2219G= | |
| X | g.153740686G>T | CA415113137 | ABCD1 | c.1747G>T (p.Val583Leu) n.2219G>T | |
| X | g.153740687T>A | CA249353 | ABCD1 | c.1748T>A (p.Val583Glu) n.2220T>A | ClinVar dbSNP ExAC gnomAD v2 |
| X | g.153740687T>C | CA10550300 | ABCD1 | c.1748T>C (p.Val583Ala) n.2220T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153740687T>G | CA415113144 | ABCD1 | c.1748T>G (p.Val583Gly) n.2220T>G | |
| X | g.153740687T= | CA2466456630 | ABCD1 | c.1748T= (p.Val583=) n.2220T= | |
| X | g.153740688G>A | CA519227593 | ABCD1 | c.1749G>A (p.Val583=) n.2221G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.153740688G>C | CA519227601 | ABCD1 | c.1749G>C (p.Val583=) n.2221G>C | dbSNP gnomAD v4 |
| X | g.153740688G= | CA2466456631 | ABCD1 | c.1749G= (p.Val583=) n.2221G= | |
| X | g.153740688G>T | CA519227606 | ABCD1 | c.1749G>T (p.Val583=) n.2221G>T | |
| X | g.153740689C>A | CA415113146 | ABCD1 | c.1750C>A (p.His584Asn) n.2222C>A | |
| X | g.153740689C= | CA2466456632 | ABCD1 | c.1750C= (p.His584=) n.2222C= | |
| X | g.153740689C>G | CA415113148 | ABCD1 | c.1750C>G (p.His584Asp) n.2222C>G | |
| X | g.153740689C>T | CA415113151 | ABCD1 | c.1750C>T (p.His584Tyr) n.2222C>T | dbSNP gnomAD v2 |
| X | g.153740690A= | CA2466456633 | ABCD1 | c.1751A= (p.His584=) n.2223A= | |
| X | g.153740690A>C | CA415113155 | ABCD1 | c.1751A>C (p.His584Pro) n.2223A>C | |
| X | g.153740690A>G | CA415113158 | ABCD1 | c.1751A>G (p.His584Arg) n.2223A>G | ClinVar dbSNP gnomAD v4 |
| X | g.153740690A>T | CA415113160 | ABCD1 | c.1751A>T (p.His584Leu) n.2223A>T | |
| X | g.153740691C>A | CA415113164 | ABCD1 | c.1752C>A (p.His584Gln) n.2224C>A | |
| X | g.153740691C>G | CA415113167 | ABCD1 | c.1752C>G (p.His584Gln) n.2224C>G | |
| X | g.153740691C>T | CA519227635 | ABCD1 | c.1752C>T (p.His584=) n.2224C>T | |
| X | g.153740692del | CA2580101678 | ABCD1 | c.1753del (p.Leu585CysfsTer?) n.2225del | ClinVar |
| X | g.153740692C>A | CA415113172 | ABCD1 | c.1753C>A (p.Leu585Met) n.2225C>A | |
| X | g.153740692C>G | CA415113174 | ABCD1 | c.1753C>G (p.Leu585Val) n.2225C>G | |
| X | g.153740692C>T | CA519227641 | ABCD1 | c.1753C>T (p.Leu585=) n.2225C>T | gnomAD v4 |
| X | g.153740693T>A | CA415113177 | ABCD1 | c.1754T>A (p.Leu585Gln) n.2226T>A | |
| X | g.153740693T>C | CA415113180 | ABCD1 | c.1754T>C (p.Leu585Pro) n.2226T>C | |
| X | g.153740693T>G | CA415113181 | ABCD1 | c.1754T>G (p.Leu585Arg) n.2226T>G | |
| X | g.153740694del | CA2695236842 | ABCD1 | c.1755del (p.His586ThrfsTer?) n.2227del | |
| X | g.153740694G>A | CA519227653 | ABCD1 | c.1755G>A (p.Leu585=) n.2227G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.153740694G>C | CA519227655 | ABCD1 | c.1755G>C (p.Leu585=) n.2227G>C | |
| X | g.153740694G= | CA2466456634 | ABCD1 | c.1755G= (p.Leu585=) n.2227G= | |
| X | g.153740694G>T | CA519227658 | ABCD1 | c.1755G>T (p.Leu585=) n.2227G>T | |
| X | g.153740695C>A | CA415113185 | ABCD1 | c.1756C>A (p.His586Asn) n.2228C>A | |
| X | g.153740695C= | CA2466456635 | ABCD1 | c.1756C= (p.His586=) n.2228C= | |
| X | g.153740695C>G | CA415113191 | ABCD1 | c.1756C>G (p.His586Asp) n.2228C>G | |
| X | g.153740695C>T | CA415113193 | ABCD1 | c.1756C>T (p.His586Tyr) n.2228C>T | dbSNP |
| X | g.153740698_153740700dup | CA913187404 | ABCD1 | c.1759_1761dup (p.His587_Ile588insHis) n.2231_2233dup | |
| X | g.153740696A= | CA2466456636 | ABCD1 | c.1757A= (p.His586=) n.2229A= | |
| X | g.153740696A>C | CA415113195 | ABCD1 | c.1757A>C (p.His586Pro) n.2229A>C | |
| X | g.153740696A>G | CA415113198 | ABCD1 | c.1757A>G (p.His586Arg) n.2229A>G | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153740696A>T | CA415113200 | ABCD1 | c.1757A>T (p.His586Leu) n.2229A>T | |
| X | g.153740697C>A | CA415113204 | ABCD1 | c.1758C>A (p.His586Gln) n.2230C>A | |
| X | g.153740697C>G | CA415113203 | ABCD1 | c.1758C>G (p.His586Gln) n.2230C>G | |
| X | g.153740697C>T | CA519227673 | ABCD1 | c.1758C>T (p.His586=) n.2230C>T | |
| X | g.153740698C>A | CA415113207 | ABCD1 | c.1759C>A (p.His587Asn) n.2231C>A | |
| X | g.153740698C>G | CA415113213 | ABCD1 | c.1759C>G (p.His587Asp) n.2231C>G | |
| X | g.153740698C>T | CA415113211 | ABCD1 | c.1759C>T (p.His587Tyr) n.2231C>T | |
| X | g.153740699_153740710del | CA2695236843 | ABCD1 | c.1760_1771del (p.His587_Gln590del) n.2232_2243del | |
| X | g.153740699A>C | CA415113221 | ABCD1 | c.1760A>C (p.His587Pro) n.2232A>C | |
| X | g.153740699A>G | CA415113224 | ABCD1 | c.1760A>G (p.His587Arg) n.2232A>G | |
| X | g.153740699A>T | CA415113228 | ABCD1 | c.1760A>T (p.His587Leu) n.2232A>T | |
| X | g.153740700C>A | CA415113234 | ABCD1 | c.1761C>A (p.His587Gln) n.2233C>A | |
| X | g.153740700C= | CA2466456637 | ABCD1 | c.1761C= (p.His587=) n.2233C= | |
| X | g.153740700C>G | CA415113238 | ABCD1 | c.1761C>G (p.His587Gln) n.2233C>G | |
| X | g.153740700C>T | CA519227696 | ABCD1 | c.1761C>T (p.His587=) n.2233C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153740701A>C | CA415113241 | ABCD1 | c.1762A>C (p.Ile588Leu) n.2234A>C | |
| X | g.153740701A>G | CA415113243 | ABCD1 | c.1762A>G (p.Ile588Val) n.2234A>G | gnomAD v4 |
| X | g.153740701A>T | CA415113247 | ABCD1 | c.1762A>T (p.Ile588Phe) n.2234A>T | |
| X | g.153740702T>A | CA415113254 | ABCD1 | c.1763T>A (p.Ile588Asn) n.2235T>A | ClinVar dbSNP |
| X | g.153740702T>C | CA415113257 | ABCD1 | c.1763T>C (p.Ile588Thr) n.2235T>C | |
| X | g.153740702T>G | CA415113261 | ABCD1 | c.1763T>G (p.Ile588Ser) n.2235T>G | |
| X | g.153740702T= | CA2466456638 | ABCD1 | c.1763T= (p.Ile588=) n.2235T= | |
| X | g.153740703C>A | CA519227721 | ABCD1 | c.1764C>A (p.Ile588=) n.2236C>A | |
| X | g.153740703C>G | CA415113269 | ABCD1 | c.1764C>G (p.Ile588Met) n.2236C>G | |
| X | g.153740703C>T | CA519227727 | ABCD1 | c.1764C>T (p.Ile588=) n.2236C>T | |
| X | g.153740704del | CA2695236844 | ABCD1 | c.1765del (p.Leu589CysfsTer?) n.2237del | |
| X | g.153740704C>A | CA415113274 | ABCD1 | c.1765C>A (p.Leu589Met) n.2237C>A | |
| X | g.153740704C>G | CA415113278 | ABCD1 | c.1765C>G (p.Leu589Val) n.2237C>G | |
| X | g.153740704C>T | CA519227734 | ABCD1 | c.1765C>T (p.Leu589=) n.2237C>T | |
| X | g.153740705T>A | CA415113287 | ABCD1 | c.1766T>A (p.Leu589Gln) n.2238T>A | |
| X | g.153740705T>C | CA415113293 | ABCD1 | c.1766T>C (p.Leu589Pro) n.2238T>C | |
| X | g.153740705T>G | CA415113301 | ABCD1 | c.1766T>G (p.Leu589Arg) n.2238T>G | |
| X | g.153740706G>A | CA519227747 | ABCD1 | c.1767G>A (p.Leu589=) n.2239G>A | |
| X | g.153740706G>C | CA519227750 | ABCD1 | c.1767G>C (p.Leu589=) n.2239G>C | |
| X | g.153740706G= | CA2466456639 | ABCD1 | c.1767G= (p.Leu589=) n.2239G= | |
| X | g.153740706G>T | CA519227754 | ABCD1 | c.1767G>T (p.Leu589=) n.2239G>T | dbSNP |
| X | g.153740707C>A | CA415113305 | ABCD1 | c.1768C>A (p.Gln590Lys) n.2240C>A | |
| X | g.153740707C= | CA2466456640 | ABCD1 | c.1768C= (p.Gln590=) n.2240C= | |
| X | g.153740707C>G | CA415113308 | ABCD1 | c.1768C>G (p.Gln590Glu) n.2240C>G | |
| X | g.153740707C>T | CA415113311 | ABCD1 | c.1768C>T (p.Gln590Ter) n.2240C>T | ClinVar dbSNP |
| X | g.153740708A= | CA2466456641 | ABCD1 | c.1769A= (p.Gln590=) n.2241A= | |
| X | g.153740708A>C | CA415113316 | ABCD1 | c.1769A>C (p.Gln590Pro) n.2241A>C | |
| X | g.153740708A>G | CA415113321 | ABCD1 | c.1769A>G (p.Gln590Arg) n.2241A>G | |
| X | g.153740708A>T | CA10550301 | ABCD1 | c.1769A>T (p.Gln590Leu) n.2241A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153740709G>A | CA519227776 | ABCD1 | c.1770G>A (p.Gln590=) n.2242G>A | |
| X | g.153740709G>C | CA415113328 | ABCD1 | c.1770G>C (p.Gln590His) n.2242G>C | |
| X | g.153740709G>T | CA415113330 | ABCD1 | c.1770G>T (p.Gln590His) n.2242G>T | |
| X | g.153740710C>A | CA519227791 | ABCD1 | c.1771C>A (p.Arg591=) n.2243C>A | |
| X | g.153740710C= | CA2466456642 | ABCD1 | c.1771C= (p.Arg591=) n.2243C= | |
| X | g.153740710C>G | CA415113338 | ABCD1 | c.1771C>G (p.Arg591Gly) n.2243C>G | |
| X | g.153740710C>T | CA278409 | ABCD1 | c.1771C>T (p.Arg591Trp) n.2243C>T | ClinVar dbSNP gnomAD v4 |
| X | g.153740711G>A | CA415113345 | ABCD1 | c.1772G>A (p.Arg591Gln) n.2244G>A | ClinVar dbSNP gnomAD v4 |
| X | g.153740711G>C | CA415113350 | ABCD1 | c.1772G>C (p.Arg591Pro) n.2244G>C | ClinVar |
| X | g.153740711G= | CA2466456643 | ABCD1 | c.1772G= (p.Arg591=) n.2244G= | |
| X | g.153740711G>T | CA415113353 | ABCD1 | c.1772G>T (p.Arg591Leu) n.2244G>T | |
| X | g.153740712G>A | CA519227809 | ABCD1 | c.1773G>A (p.Arg591=) n.2245G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.153740712G>C | CA519227810 | ABCD1 | c.1773G>C (p.Arg591=) n.2245G>C | ClinVar |
| X | g.153740712G= | CA2466456644 | ABCD1 | c.1773G= (p.Arg591=) n.2245G= | |
| X | g.153740712G>T | CA519227811 | ABCD1 | c.1773G>T (p.Arg591=) n.2245G>T | |
| X | g.153740713G>A | CA415113358 | ABCD1 | c.1774G>A (p.Glu592Lys) n.2246G>A | ClinVar gnomAD v4 |
| X | g.153740713G>C | CA415113369 | ABCD1 | c.1774G>C (p.Glu592Gln) n.2246G>C | gnomAD v4 |
| X | g.153740713G>T | CA415113372 | ABCD1 | c.1774G>T (p.Glu592Ter) n.2246G>T | |
| X | g.153740714A>C | CA415113377 | ABCD1 | c.1775A>C (p.Glu592Ala) n.2247A>C | |
| X | g.153740714A>G | CA415113380 | ABCD1 | c.1775A>G (p.Glu592Gly) n.2247A>G | |
| X | g.153740714A>T | CA415113384 | ABCD1 | c.1775A>T (p.Glu592Val) n.2247A>T | |
| X | g.153740715G>A | CA519227830 | ABCD1 | c.1776G>A (p.Glu592=) n.2248G>A | gnomAD v4 |
| X | g.153740715G>C | CA415113388 | ABCD1 | c.1776G>C (p.Glu592Asp) n.2248G>C | |
| X | g.153740715G>T | CA415113391 | ABCD1 | c.1776G>T (p.Glu592Asp) n.2248G>T | |
| X | g.153740716G>A | CA415113403 | ABCD1 | c.1777G>A (p.Gly593Arg) n.2249G>A | |
| X | g.153740716G>C | CA415113397 | ABCD1 | c.1777G>C (p.Gly593Arg) n.2249G>C | |
| X | g.153740716G>T | CA415113395 | ABCD1 | c.1777G>T (p.Gly593Ter) n.2249G>T | |
| X | g.153740717G>A | CA415113409 | ABCD1 | c.1778G>A (p.Gly593Glu) n.2250G>A | |
| X | g.153740717G>C | CA415113414 | ABCD1 | c.1778G>C (p.Gly593Ala) n.2250G>C | |
| X | g.153740717G>T | CA415113417 | ABCD1 | c.1778G>T (p.Gly593Val) n.2250G>T | |
| X | g.153740718A>C | CA519227873 | ABCD1 | c.1779A>C (p.Gly593=) n.2251A>C | |
| X | g.153740718A>G | CA519227877 | ABCD1 | c.1779A>G (p.Gly593=) n.2251A>G | |
| X | g.153740718A>T | CA519227880 | ABCD1 | c.1779A>T (p.Gly593=) n.2251A>T | |
| X | g.153740719G>A | CA415113421 | ABCD1 | c.1780G>A (p.Gly594Ser) n.2252G>A | ClinVar |
| X | g.153740719G>C | CA415113428 | ABCD1 | c.1780G>C (p.Gly594Arg) n.2252G>C | ClinVar dbSNP |
| X | g.153740719G>T | CA415113430 | ABCD1 | c.1780G>T (p.Gly594Cys) n.2252G>T | COSMIC |
| X | g.153740720G>A | CA415113434 | ABCD1 | c.1780+1G>A (n.1780+1G>A) n.2252+1G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153740720G>C | CA415113439 | ABCD1 | c.1780+1G>C (n.1780+1G>C) n.2252+1G>C | |
| X | g.153740720G= | CA2466456645 | ABCD1 | c.1780+1G= (n.1780+1G=) n.2252+1G= | |
| X | g.153740720G>T | CA415113442 | ABCD1 | c.1780+1G>T (n.1780+1G>T) n.2252+1G>T | |
| X | g.153740721T>A | CA415113446 | ABCD1 | c.1780+2T>A (n.1780+2T>A) n.2252+2T>A | |
| X | g.153740721T>C | CA415113452 | ABCD1 | c.1780+2T>C (n.1780+2T>C) n.2252+2T>C | |
| X | g.153740721T>G | CA415113455 | ABCD1 | c.1780+2T>G (n.1780+2T>G) n.2252+2T>G | ClinVar dbSNP |
| X | g.153740721T= | CA2466456646 | ABCD1 | c.1780+2T= (n.1780+2T=) n.2252+2T= | |
| X | g.153740721_153740724delinsTAGG | CA2466456647 | ABCD1 | c.1780+2_1780+5delinsTAGG (n.1780+2_1780+5delinsTAGG) n.2252+2_2252+5delinsTAGG | |
| X | g.153740725_153740727del | CA645161031 | ABCD1 | c.1780+6_1780+8del (n.1780+6_1780+8del) n.2252+6_2252+8del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153740723G>A | CA278377 | ABCD1 | c.1780+4G>A (n.1780+4G>A) n.2252+4G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153740723G= | CA2466456648 | ABCD1 | c.1780+4G= (n.1780+4G=) n.2252+4G= |