| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.153743225A= | CA2466457636 | ABCD1 | c.1870A= (p.Lys624=) n.2342A= | |
| X | g.153743225A>C | CA415116579 | ABCD1 | c.1870A>C (p.Lys624Gln) n.2342A>C | |
| X | g.153743225A>G | CA10550351 | ABCD1 | c.1870A>G (p.Lys624Glu) n.2342A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153743225A>T | CA415116584 | ABCD1 | c.1870A>T (p.Lys624Ter) n.2342A>T | |
| X | g.153743226A>C | CA415116597 | ABCD1 | c.1871A>C (p.Lys624Thr) n.2343A>C | |
| X | g.153743226A>G | CA415116594 | ABCD1 | c.1871A>G (p.Lys624Arg) n.2343A>G | |
| X | g.153743226A>T | CA415116590 | ABCD1 | c.1871A>T (p.Lys624Met) n.2343A>T | gnomAD v4 |
| X | g.153743227G>A | CA519230776 | ABCD1 | c.1872G>A (p.Lys624=) n.2344G>A | |
| X | g.153743227G>C | CA415116602 | ABCD1 | c.1872G>C (p.Lys624Asn) n.2344G>C | ClinVar |
| X | g.153743227G>T | CA415116604 | ABCD1 | c.1872G>T (p.Lys624Asn) n.2344G>T | |
| X | g.153743228T>A | CA415116612 | ABCD1 | c.1873T>A (p.Tyr625Asn) n.2345T>A | |
| X | g.153743228T>C | CA415116617 | ABCD1 | c.1873T>C (p.Tyr625His) n.2345T>C | |
| X | g.153743228T>G | CA415116622 | ABCD1 | c.1873T>G (p.Tyr625Asp) n.2345T>G | |
| X | g.153743229A>C | CA415116629 | ABCD1 | c.1874A>C (p.Tyr625Ser) n.2346A>C | |
| X | g.153743229A>G | CA415116632 | ABCD1 | c.1874A>G (p.Tyr625Cys) n.2346A>G | |
| X | g.153743229A>T | CA415116636 | ABCD1 | c.1874A>T (p.Tyr625Phe) n.2346A>T | |
| X | g.153743230C>A | CA415116639 | ABCD1 | c.1875C>A (p.Tyr625Ter) n.2347C>A | ClinVar |
| X | g.153743230C= | CA2466457637 | ABCD1 | c.1875C= (p.Tyr625=) n.2347C= | |
| X | g.153743230C>G | CA415116643 | ABCD1 | c.1875C>G (p.Tyr625Ter) n.2347C>G | |
| X | g.153743230C>T | CA519230800 | ABCD1 | c.1875C>T (p.Tyr625=) n.2347C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.153743231G>A | CA415116649 | ABCD1 | c.1876G>A (p.Ala626Thr) n.2348G>A | ClinVar dbSNP COSMIC |
| X | g.153743231G>C | CA415116651 | ABCD1 | c.1876G>C (p.Ala626Pro) n.2348G>C | |
| X | g.153743231G= | CA2466457638 | ABCD1 | c.1876G= (p.Ala626=) n.2348G= | |
| X | g.153743231G>T | CA415116647 | ABCD1 | c.1876G>T (p.Ala626Ser) n.2348G>T | |
| X | g.153743231_153743232delinsTT | CA2580101696 | ABCD1 | c.1876_1877delinsTT (p.Ala626Phe) n.2348_2349delinsTT | ClinVar |
| X | g.153743232C>A | CA415116656 | ABCD1 | c.1877C>A (p.Ala626Asp) n.2349C>A | gnomAD v4 |
| X | g.153743232C>G | CA415116661 | ABCD1 | c.1877C>G (p.Ala626Gly) n.2349C>G | |
| X | g.153743232C>T | CA415116663 | ABCD1 | c.1877C>T (p.Ala626Val) n.2349C>T | ClinVar |
| X | g.153743233C>A | CA519230825 | ABCD1 | c.1878C>A (p.Ala626=) n.2350C>A | |
| X | g.153743233C>G | CA519230828 | ABCD1 | c.1878C>G (p.Ala626=) n.2350C>G | |
| X | g.153743233C>T | CA519230831 | ABCD1 | c.1878C>T (p.Ala626=) n.2350C>T | |
| X | g.153743234C>A | CA415116675 | ABCD1 | c.1879C>A (p.Leu627Ile) n.2351C>A | gnomAD v3 gnomAD v4 |
| X | g.153743234C= | CA2466457639 | ABCD1 | c.1879C= (p.Leu627=) n.2351C= | |
| X | g.153743234C>G | CA415116678 | ABCD1 | c.1879C>G (p.Leu627Val) n.2351C>G | |
| X | g.153743234C>T | CA415116681 | ABCD1 | c.1879C>T (p.Leu627Phe) n.2351C>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.153743235T>A | CA415116685 | ABCD1 | c.1880T>A (p.Leu627His) n.2352T>A | |
| X | g.153743235T>C | CA415116688 | ABCD1 | c.1880T>C (p.Leu627Pro) n.2352T>C | ClinVar dbSNP |
| X | g.153743235T>G | CA415116689 | ABCD1 | c.1880T>G (p.Leu627Arg) n.2352T>G | |
| X | g.153743236C>A | CA519230850 | ABCD1 | c.1881C>A (p.Leu627=) n.2353C>A | |
| X | g.153743236C= | CA2466457640 | ABCD1 | c.1881C= (p.Leu627=) n.2353C= | |
| X | g.153743236C>G | CA519230855 | ABCD1 | c.1881C>G (p.Leu627=) n.2353C>G | |
| X | g.153743236C>T | CA10550352 | ABCD1 | c.1881C>T (p.Leu627=) n.2353C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153743237C>A | CA415116698 | ABCD1 | c.1882C>A (p.Leu628Met) n.2354C>A | |
| X | g.153743237C>G | CA415116700 | ABCD1 | c.1882C>G (p.Leu628Val) n.2354C>G | |
| X | g.153743237C>T | CA519230861 | ABCD1 | c.1882C>T (p.Leu628=) n.2354C>T | |
| X | g.153743238T>A | CA415116704 | ABCD1 | c.1883T>A (p.Leu628Gln) n.2355T>A | |
| X | g.153743238T>C | CA415116716 | ABCD1 | c.1883T>C (p.Leu628Pro) n.2355T>C | ClinVar dbSNP |
| X | g.153743238T>G | CA415116707 | ABCD1 | c.1883T>G (p.Leu628Arg) n.2355T>G | |
| X | g.153743239G>A | CA519230868 | ABCD1 | c.1884G>A (p.Leu628=) n.2356G>A | |
| X | g.153743239G>C | CA519230869 | ABCD1 | c.1884G>C (p.Leu628=) n.2356G>C | |
| X | g.153743239G>T | CA519230873 | ABCD1 | c.1884G>T (p.Leu628=) n.2356G>T | |
| X | g.153743240G>A | CA415116719 | ABCD1 | c.1885G>A (p.Asp629Asn) n.2357G>A | |
| X | g.153743240G>C | CA415116722 | ABCD1 | c.1885G>C (p.Asp629His) n.2357G>C | |
| X | g.153743240G>T | CA415116725 | ABCD1 | c.1885G>T (p.Asp629Tyr) n.2357G>T | gnomAD v4 |
| X | g.153743241A>C | CA415116729 | ABCD1 | c.1886A>C (p.Asp629Ala) n.2358A>C | |
| X | g.153743241A>G | CA415116732 | ABCD1 | c.1886A>G (p.Asp629Gly) n.2358A>G | gnomAD v4 |
| X | g.153743241A>T | CA415116735 | ABCD1 | c.1886A>T (p.Asp629Val) n.2358A>T | ClinVar dbSNP |
| X | g.153743242T>A | CA415116739 | ABCD1 | c.1887T>A (p.Asp629Glu) n.2359T>A | |
| X | g.153743242T>C | CA519230893 | ABCD1 | c.1887T>C (p.Asp629=) n.2359T>C | |
| X | g.153743242T>G | CA415116743 | ABCD1 | c.1887T>G (p.Asp629Glu) n.2359T>G | |
| X | g.153743243G>A | CA415116752 | ABCD1 | c.1888G>A (p.Glu630Lys) n.2360G>A | gnomAD v4 |
| X | g.153743243G>C | CA415116755 | ABCD1 | c.1888G>C (p.Glu630Gln) n.2360G>C | |
| X | g.153743243G>T | CA415116759 | ABCD1 | c.1888G>T (p.Glu630Ter) n.2360G>T | gnomAD v4 |
| X | g.153743244A>C | CA415116771 | ABCD1 | c.1889A>C (p.Glu630Ala) n.2361A>C | |
| X | g.153743244A>G | CA415116791 | ABCD1 | c.1889A>G (p.Glu630Gly) n.2361A>G | |
| X | g.153743244A>T | CA415116767 | ABCD1 | c.1889A>T (p.Glu630Val) n.2361A>T | |
| X | g.153743245A>C | CA415116796 | ABCD1 | c.1890A>C (p.Glu630Asp) n.2362A>C | |
| X | g.153743245A>G | CA519230911 | ABCD1 | c.1890A>G (p.Glu630=) n.2362A>G | |
| X | g.153743245A>T | CA415116801 | ABCD1 | c.1890A>T (p.Glu630Asp) n.2362A>T | |
| X | g.153743246T>A | CA415116805 | ABCD1 | c.1891T>A (p.Cys631Ser) n.2363T>A | |
| X | g.153743246T>C | CA415116809 | ABCD1 | c.1891T>C (p.Cys631Arg) n.2363T>C | ClinVar dbSNP gnomAD v4 |
| X | g.153743246T>G | CA415116813 | ABCD1 | c.1891T>G (p.Cys631Gly) n.2363T>G | |
| X | g.153743247G>A | CA415116835 | ABCD1 | c.1892G>A (p.Cys631Tyr) n.2364G>A | ClinVar dbSNP |
| X | g.153743247G>C | CA415116821 | ABCD1 | c.1892G>C (p.Cys631Ser) n.2364G>C | |
| X | g.153743247G= | CA2466457641 | ABCD1 | c.1892G= (p.Cys631=) n.2364G= | |
| X | g.153743247G>T | CA415116826 | ABCD1 | c.1892G>T (p.Cys631Phe) n.2364G>T | |
| X | g.153743248C>A | CA415116841 | ABCD1 | c.1893C>A (p.Cys631Ter) n.2365C>A | |
| X | g.153743248C= | CA2466457642 | ABCD1 | c.1893C= (p.Cys631=) n.2365C= | |
| X | g.153743248C>G | CA415116843 | ABCD1 | c.1893C>G (p.Cys631Trp) n.2365C>G | |
| X | g.153743248C>T | CA519230938 | ABCD1 | c.1893C>T (p.Cys631=) n.2365C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.153743249A>C | CA415116845 | ABCD1 | c.1894A>C (p.Thr632Pro) n.2366A>C | |
| X | g.153743249A>G | CA415116846 | ABCD1 | c.1894A>G (p.Thr632Ala) n.2366A>G | gnomAD v4 |
| X | g.153743249A>T | CA415116847 | ABCD1 | c.1894A>T (p.Thr632Ser) n.2366A>T | |
| X | g.153743250C>A | CA415116853 | ABCD1 | c.1895C>A (p.Thr632Asn) n.2367C>A | |
| X | g.153743250C= | CA2466457643 | ABCD1 | c.1895C= (p.Thr632=) n.2367C= | |
| X | g.153743250C>G | CA415116850 | ABCD1 | c.1895C>G (p.Thr632Ser) n.2367C>G | |
| X | g.153743250C>T | CA16621227 | ABCD1 | c.1895C>T (p.Thr632Ile) n.2367C>T | ClinVar dbSNP |
| X | g.153743251C>A | CA519230972 | ABCD1 | c.1896C>A (p.Thr632=) n.2368C>A | |
| X | g.153743251C>G | CA519230978 | ABCD1 | c.1896C>G (p.Thr632=) n.2368C>G | |
| X | g.153743251C>T | CA519230975 | ABCD1 | c.1896C>T (p.Thr632=) n.2368C>T | gnomAD v4 |
| X | g.153743252A>C | CA415116857 | ABCD1 | c.1897A>C (p.Ser633Arg) n.2369A>C | |
| X | g.153743252A>G | CA415116860 | ABCD1 | c.1897A>G (p.Ser633Gly) n.2369A>G | |
| X | g.153743252A>T | CA415116862 | ABCD1 | c.1897A>T (p.Ser633Cys) n.2369A>T | |
| X | g.153743253G>A | CA415116864 | ABCD1 | c.1898G>A (p.Ser633Asn) n.2370G>A | ClinVar |
| X | g.153743253G>C | CA415116865 | ABCD1 | c.1898G>C (p.Ser633Thr) n.2370G>C | |
| X | g.153743253G>T | CA415116866 | ABCD1 | c.1898G>T (p.Ser633Ile) n.2370G>T | |
| X | g.153743253_153743256delinsGCGC | CA2466457644 | ABCD1 | c.1898_1901delinsGCGC (p.Ser633=) n.2370_2373delinsGCGC | |
| X | g.153743254del | CA2695236850 | ABCD1 | c.1899del (p.Ser633ArgfsTer3) n.2371del | |
| X | g.153743254C>A | CA415116869 | ABCD1 | c.1899C>A (p.Ser633Arg) n.2371C>A | gnomAD v4 |
| X | g.153743254C= | CA2466457645 | ABCD1 | c.1899C= (p.Ser633=) n.2371C= | |
| X | g.153743254C>G | CA415116871 | ABCD1 | c.1899C>G (p.Ser633Arg) n.2371C>G | ClinVar dbSNP |
| X | g.153743254C>T | CA10550353 | ABCD1 | c.1899C>T (p.Ser633=) n.2371C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153743256_153743258del | CA2466457646 | ABCD1 | c.1901_1903del (p.Ala634del) n.2373_2375del | dbSNP |
| X | g.153743255G>A | CA10604122 | ABCD1 | c.1900G>A (p.Ala634Thr) n.2372G>A | ClinVar dbSNP gnomAD v4 |
| X | g.153743255G>C | CA415116876 | ABCD1 | c.1900G>C (p.Ala634Pro) n.2372G>C | |
| X | g.153743255G= | CA2466457647 | ABCD1 | c.1900G= (p.Ala634=) n.2372G= | |
| X | g.153743255G>T | CA10550354 | ABCD1 | c.1900G>T (p.Ala634Ser) n.2372G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153743256C>A | CA415116883 | ABCD1 | c.1901C>A (p.Ala634Asp) n.2373C>A | |
| X | g.153743256C= | CA2466457648 | ABCD1 | c.1901C= (p.Ala634=) n.2373C= | |
| X | g.153743256C>G | CA415116884 | ABCD1 | c.1901C>G (p.Ala634Gly) n.2373C>G | |
| X | g.153743256C>T | CA337242814 | ABCD1 | c.1901C>T (p.Ala634Val) n.2373C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.153743257C>A | CA519231022 | ABCD1 | c.1902C>A (p.Ala634=) n.2374C>A | |
| X | g.153743257C= | CA2466457649 | ABCD1 | c.1902C= (p.Ala634=) n.2374C= | |
| X | g.153743257C>G | CA519231026 | ABCD1 | c.1902C>G (p.Ala634=) n.2374C>G | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153743257C>T | CA10550355 | ABCD1 | c.1902C>T (p.Ala634=) n.2374C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153743258G>A | CA337242826 | ABCD1 | c.1903G>A (p.Val635Met) n.2375G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.153743258G>C | CA415116895 | ABCD1 | c.1903G>C (p.Val635Leu) n.2375G>C | |
| X | g.153743258G= | CA2466457650 | ABCD1 | c.1903G= (p.Val635=) n.2375G= | |
| X | g.153743258G>T | CA415116899 | ABCD1 | c.1903G>T (p.Val635Leu) n.2375G>T | gnomAD v4 |
| X | g.153743258_153743259insCCA | CA2695236851 | ABCD1 | c.1903_1904insCCA (p.Val635delinsAlaMet) n.2375_2376insCCA | |
| X | g.153743259T>A | CA415116903 | ABCD1 | c.1904T>A (p.Val635Glu) n.2376T>A | |
| X | g.153743259T>C | CA247934 | ABCD1 | c.1904T>C (p.Val635Ala) n.2376T>C | ClinVar dbSNP |
| X | g.153743259T>G | CA415116908 | ABCD1 | c.1904T>G (p.Val635Gly) n.2376T>G | |
| X | g.153743259T= | CA2466457651 | ABCD1 | c.1904T= (p.Val635=) n.2376T= | |
| X | g.153743260G>A | CA519231046 | ABCD1 | c.1905G>A (p.Val635=) n.2377G>A | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153743260G>C | CA519231049 | ABCD1 | c.1905G>C (p.Val635=) n.2377G>C | |
| X | g.153743260G= | CA2466457652 | ABCD1 | c.1905G= (p.Val635=) n.2377G= | |
| X | g.153743260G>T | CA519231053 | ABCD1 | c.1905G>T (p.Val635=) n.2377G>T | ClinVar dbSNP gnomAD v4 |
| X | g.153743261A>C | CA415116924 | ABCD1 | c.1906A>C (p.Ser636Arg) n.2378A>C | |
| X | g.153743261A>G | CA415116926 | ABCD1 | c.1906A>G (p.Ser636Gly) n.2378A>G | |
| X | g.153743261A>T | CA415116929 | ABCD1 | c.1906A>T (p.Ser636Cys) n.2378A>T | |
| X | g.153743263_153743281del | CA2695236852 | ABCD1 | c.1908_1926del (p.Ser636ArgfsTer?) n.2380_2398del | |
| X | g.153743262G>A | CA415116936 | ABCD1 | c.1907G>A (p.Ser636Asn) n.2379G>A | |
| X | g.153743262G>C | CA415116940 | ABCD1 | c.1907G>C (p.Ser636Thr) n.2379G>C | |
| X | g.153743262G= | CA2466457653 | ABCD1 | c.1907G= (p.Ser636=) n.2379G= | |
| X | g.153743262G>T | CA415116945 | ABCD1 | c.1907G>T (p.Ser636Ile) n.2379G>T | ClinVar dbSNP |
| X | g.153743263C>A | CA415116947 | ABCD1 | c.1908C>A (p.Ser636Arg) n.2380C>A | |
| X | g.153743263C>G | CA415116949 | ABCD1 | c.1908C>G (p.Ser636Arg) n.2380C>G | |
| X | g.153743263C>T | CA519231066 | ABCD1 | c.1908C>T (p.Ser636=) n.2380C>T | |
| X | g.153743264del | CA2695236853 | ABCD1 | c.1909del (p.Ile637SerfsTer?) n.2381del | |
| X | g.153743264A= | CA2466457654 | ABCD1 | c.1909A= (p.Ile637=) n.2381A= | |
| X | g.153743264A>C | CA415116951 | ABCD1 | c.1909A>C (p.Ile637Leu) n.2381A>C | |
| X | g.153743264A>G | CA10550356 | ABCD1 | c.1909A>G (p.Ile637Val) n.2381A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153743264A>T | CA415116957 | ABCD1 | c.1909A>T (p.Ile637Phe) n.2381A>T | |
| X | g.153743265T>A | CA415116960 | ABCD1 | c.1910T>A (p.Ile637Asn) n.2382T>A | |
| X | g.153743265T>C | CA415116963 | ABCD1 | c.1910T>C (p.Ile637Thr) n.2382T>C | |
| X | g.153743265T>G | CA415116965 | ABCD1 | c.1910T>G (p.Ile637Ser) n.2382T>G | |
| X | g.153743266C>A | CA519231076 | ABCD1 | c.1911C>A (p.Ile637=) n.2383C>A | |
| X | g.153743266C= | CA2466457655 | ABCD1 | c.1911C= (p.Ile637=) n.2383C= | |
| X | g.153743266C>G | CA415116967 | ABCD1 | c.1911C>G (p.Ile637Met) n.2383C>G | |
| X | g.153743266C>T | CA10550357 | ABCD1 | c.1911C>T (p.Ile637=) n.2383C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153743268_153743270del | CA913189081 | ABCD1 | c.1913_1915del (p.Asp638del) n.2385_2387del | |
| X | g.153743266_153743275del | CA2695236854 | ABCD1 | c.1911_1920del (p.Ile637MetfsTer?) n.2383_2392del | |
| X | g.153743267G>A | CA415116973 | ABCD1 | c.1912G>A (p.Asp638Asn) n.2384G>A | ClinVar dbSNP gnomAD v4 |
| X | g.153743267G>C | CA10606398 | ABCD1 | c.1912G>C (p.Asp638His) n.2384G>C | ClinVar dbSNP |
| X | g.153743267G= | CA2466457656 | ABCD1 | c.1912G= (p.Asp638=) n.2384G= | |
| X | g.153743267G>T | CA415116978 | ABCD1 | c.1912G>T (p.Asp638Tyr) n.2384G>T | |
| X | g.153743268A>C | CA415116998 | ABCD1 | c.1913A>C (p.Asp638Ala) n.2385A>C | ClinVar |
| X | g.153743268A>G | CA415117008 | ABCD1 | c.1913A>G (p.Asp638Gly) n.2385A>G | |
| X | g.153743268A>T | CA415116980 | ABCD1 | c.1913A>T (p.Asp638Val) n.2385A>T | |
| X | g.153743269C>A | CA415117014 | ABCD1 | c.1914C>A (p.Asp638Glu) n.2386C>A | |
| X | g.153743269C= | CA2466457657 | ABCD1 | c.1914C= (p.Asp638=) n.2386C= | |
| X | g.153743269C>G | CA415117013 | ABCD1 | c.1914C>G (p.Asp638Glu) n.2386C>G | |
| X | g.153743269C>T | CA10550358 | ABCD1 | c.1914C>T (p.Asp638=) n.2386C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.153743270G>A | CA10550359 | ABCD1 | c.1915G>A (p.Val639Met) n.2387G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153743270G>C | CA415117031 | ABCD1 | c.1915G>C (p.Val639Leu) n.2387G>C | |
| X | g.153743270G= | CA2466457658 | ABCD1 | c.1915G= (p.Val639=) n.2387G= | |
| X | g.153743270G>T | CA415117027 | ABCD1 | c.1915G>T (p.Val639Leu) n.2387G>T | |
| X | g.153743271T>A | CA415117037 | ABCD1 | c.1916T>A (p.Val639Glu) n.2388T>A | |
| X | g.153743271T>C | CA415117042 | ABCD1 | c.1916T>C (p.Val639Ala) n.2388T>C | |
| X | g.153743271T>G | CA415117047 | ABCD1 | c.1916T>G (p.Val639Gly) n.2388T>G | |
| X | g.153743272G>A | CA519231126 | ABCD1 | c.1917G>A (p.Val639=) n.2389G>A | ClinVar gnomAD v4 |
| X | g.153743272G>C | CA519231128 | ABCD1 | c.1917G>C (p.Val639=) n.2389G>C | |
| X | g.153743272G= | CA2466457659 | ABCD1 | c.1917G= (p.Val639=) n.2389G= | |
| X | g.153743272G>T | CA519231124 | ABCD1 | c.1917G>T (p.Val639=) n.2389G>T | dbSNP gnomAD v2 |
| X | g.153743273G>A | CA415117048 | ABCD1 | c.1918G>A (p.Glu640Lys) n.2390G>A | ClinVar |
| X | g.153743273G>C | CA415117049 | ABCD1 | c.1918G>C (p.Glu640Gln) n.2390G>C | |
| X | g.153743273G>T | CA415117050 | ABCD1 | c.1918G>T (p.Glu640Ter) n.2390G>T | gnomAD v4 |
| X | g.153743274A= | CA2466457660 | ABCD1 | c.1919A= (p.Glu640=) n.2391A= | |
| X | g.153743274A>C | CA415117056 | ABCD1 | c.1919A>C (p.Glu640Ala) n.2391A>C | |
| X | g.153743274A>G | CA415117060 | ABCD1 | c.1919A>G (p.Glu640Gly) n.2391A>G | ClinVar dbSNP |
| X | g.153743274A>T | CA415117063 | ABCD1 | c.1919A>T (p.Glu640Val) n.2391A>T | |
| X | g.153743275A>C | CA415117069 | ABCD1 | c.1920A>C (p.Glu640Asp) n.2392A>C | |
| X | g.153743275A>G | CA519231147 | ABCD1 | c.1920A>G (p.Glu640=) n.2392A>G | ClinVar dbSNP |
| X | g.153743275A>T | CA415117070 | ABCD1 | c.1920A>T (p.Glu640Asp) n.2392A>T | |
| X | g.153743276G>A | CA415117071 | ABCD1 | c.1921G>A (p.Gly641Ser) n.2393G>A | |
| X | g.153743276G>C | CA415117076 | ABCD1 | c.1921G>C (p.Gly641Arg) n.2393G>C | |
| X | g.153743276G>T | CA415117072 | ABCD1 | c.1921G>T (p.Gly641Cys) n.2393G>T | |
| X | g.153743277G>A | CA415117080 | ABCD1 | c.1922G>A (p.Gly641Asp) n.2394G>A | gnomAD v4 |
| X | g.153743277G>C | CA415117081 | ABCD1 | c.1922G>C (p.Gly641Ala) n.2394G>C | |
| X | g.153743277G= | CA2466457661 | ABCD1 | c.1922G= (p.Gly641=) n.2394G= | |
| X | g.153743277G>T | CA337242842 | ABCD1 | c.1922G>T (p.Gly641Val) n.2394G>T | dbSNP gnomAD v2 COSMIC |
| X | g.153743278C>A | CA519231178 | ABCD1 | c.1923C>A (p.Gly641=) n.2395C>A | |
| X | g.153743278C>G | CA519231180 | ABCD1 | c.1923C>G (p.Gly641=) n.2395C>G | |
| X | g.153743278C>T | CA519231183 | ABCD1 | c.1923C>T (p.Gly641=) n.2395C>T | gnomAD v4 |
| X | g.153743279A>C | CA415117084 | ABCD1 | c.1924A>C (p.Lys642Gln) n.2396A>C | |
| X | g.153743279A>G | CA415117086 | ABCD1 | c.1924A>G (p.Lys642Glu) n.2396A>G | ClinVar gnomAD v4 |
| X | g.153743279A>T | CA415117090 | ABCD1 | c.1924A>T (p.Lys642Ter) n.2396A>T | |
| X | g.153743280A>C | CA415117096 | ABCD1 | c.1925A>C (p.Lys642Thr) n.2397A>C | |
| X | g.153743280A>G | CA415117123 | ABCD1 | c.1925A>G (p.Lys642Arg) n.2397A>G | gnomAD v4 |
| X | g.153743280A>T | CA415117124 | ABCD1 | c.1925A>T (p.Lys642Met) n.2397A>T | gnomAD v4 |
| X | g.153743281G>A | CA519231200 | ABCD1 | c.1926G>A (p.Lys642=) n.2398G>A | |
| X | g.153743281G>C | CA415117137 | ABCD1 | c.1926G>C (p.Lys642Asn) n.2398G>C | |
| X | g.153743281G= | CA2466457662 | ABCD1 | c.1926G= (p.Lys642=) n.2398G= | |
| X | g.153743281G>T | CA415117129 | ABCD1 | c.1926G>T (p.Lys642Asn) n.2398G>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153743282A= | CA2466457663 | ABCD1 | c.1927A= (p.Ile643=) n.2399A= | |
| X | g.153743282A>C | CA415117141 | ABCD1 | c.1927A>C (p.Ile643Leu) n.2399A>C | dbSNP |
| X | g.153743282A>G | CA415117150 | ABCD1 | c.1927A>G (p.Ile643Val) n.2399A>G | |
| X | g.153743282A>T | CA415117156 | ABCD1 | c.1927A>T (p.Ile643Phe) n.2399A>T | ClinVar |
| X | g.153743283T>A | CA415117162 | ABCD1 | c.1928T>A (p.Ile643Asn) n.2400T>A | ClinVar |
| X | g.153743283T>C | CA415117165 | ABCD1 | c.1928T>C (p.Ile643Thr) n.2400T>C | ClinVar |
| X | g.153743283T>G | CA415117168 | ABCD1 | c.1928T>G (p.Ile643Ser) n.2400T>G | |
| X | g.153743284C>A | CA519231225 | ABCD1 | c.1929C>A (p.Ile643=) n.2401C>A | ClinVar dbSNP |
| X | g.153743284C>G | CA415117180 | ABCD1 | c.1929C>G (p.Ile643Met) n.2401C>G | |
| X | g.153743284C>T | CA519231231 | ABCD1 | c.1929C>T (p.Ile643=) n.2401C>T | |
| X | g.153743285T>A | CA415117187 | ABCD1 | c.1930T>A (p.Phe644Ile) n.2402T>A | |
| X | g.153743285T>C | CA415117192 | ABCD1 | c.1930T>C (p.Phe644Leu) n.2402T>C | |
| X | g.153743285T>G | CA415117195 | ABCD1 | c.1930T>G (p.Phe644Val) n.2402T>G | |
| X | g.153743286T>A | CA415117203 | ABCD1 | c.1931T>A (p.Phe644Tyr) n.2403T>A | |
| X | g.153743286T>C | CA415117217 | ABCD1 | c.1931T>C (p.Phe644Ser) n.2403T>C | |
| X | g.153743286T>G | CA415117223 | ABCD1 | c.1931T>G (p.Phe644Cys) n.2403T>G | |
| X | g.153743286_153743287delinsTC | CA2466457664 | ABCD1 | c.1931_1932delinsTC (p.Phe644=) n.2403_2404delinsTC | |
| X | g.153743287C>A | CA415117230 | ABCD1 | c.1932C>A (p.Phe644Leu) n.2404C>A | ClinVar gnomAD v4 |
| X | g.153743287C>G | CA415117242 | ABCD1 | c.1932C>G (p.Phe644Leu) n.2404C>G | |
| X | g.153743287C>T | CA519231258 | ABCD1 | c.1932C>T (p.Phe644=) n.2404C>T | ClinVar dbSNP gnomAD v4 |
| X | g.153743288del | CA915951990 | ABCD1 | c.1933del (p.Gln645ArgfsTer?) n.2405del | ClinVar dbSNP |
| X | g.153743288C>A | CA415117247 | ABCD1 | c.1933C>A (p.Gln645Lys) n.2405C>A | |
| X | g.153743288C>G | CA415117254 | ABCD1 | c.1933C>G (p.Gln645Glu) n.2405C>G | |
| X | g.153743288C>T | CA415117258 | ABCD1 | c.1933C>T (p.Gln645Ter) n.2405C>T | |
| X | g.153743289A>C | CA415117263 | ABCD1 | c.1934A>C (p.Gln645Pro) n.2406A>C | |
| X | g.153743289A>G | CA415117268 | ABCD1 | c.1934A>G (p.Gln645Arg) n.2406A>G | |
| X | g.153743289A>T | CA415117270 | ABCD1 | c.1934A>T (p.Gln645Leu) n.2406A>T | |
| X | g.153743290G>A | CA519231284 | ABCD1 | c.1935G>A (p.Gln645=) n.2407G>A | ClinVar COSMIC |
| X | g.153743290G>C | CA415117275 | ABCD1 | c.1935G>C (p.Gln645His) n.2407G>C | COSMIC |
| X | g.153743290G>T | CA415117278 | ABCD1 | c.1935G>T (p.Gln645His) n.2407G>T | |
| X | g.153743291G>A | CA415117283 | ABCD1 | c.1936G>A (p.Ala646Thr) n.2408G>A | gnomAD v3 gnomAD v4 |
| X | g.153743291G>C | CA415117286 | ABCD1 | c.1936G>C (p.Ala646Pro) n.2408G>C | |
| X | g.153743291G>T | CA415117289 | ABCD1 | c.1936G>T (p.Ala646Ser) n.2408G>T | gnomAD v4 |
| X | g.153743292C>A | CA415117308 | ABCD1 | c.1937C>A (p.Ala646Glu) n.2409C>A | |
| X | g.153743292C= | CA2466457665 | ABCD1 | c.1937C= (p.Ala646=) n.2409C= | |
| X | g.153743292C>G | CA415117301 | ABCD1 | c.1937C>G (p.Ala646Gly) n.2409C>G | |
| X | g.153743292C>T | CA415117297 | ABCD1 | c.1937C>T (p.Ala646Val) n.2409C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.153743293G>A | CA10550360 | ABCD1 | c.1938G>A (p.Ala646=) n.2410G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153743293G>C | CA519231309 | ABCD1 | c.1938G>C (p.Ala646=) n.2410G>C | dbSNP |
| X | g.153743293G= | CA2466457666 | ABCD1 | c.1938G= (p.Ala646=) n.2410G= | |
| X | g.153743293G>T | CA519231315 | ABCD1 | c.1938G>T (p.Ala646=) n.2410G>T | |
| X | g.153743293_153743294dup | CA337242851 | ABCD1 | c.1938_1939dup (p.Ala647GlyfsTer?) n.2410_2411dup | dbSNP |
| X | g.153743294G>A | CA415117330 | ABCD1 | c.1939G>A (p.Ala647Thr) n.2411G>A | gnomAD v4 |
| X | g.153743294G>C | CA415117323 | ABCD1 | c.1939G>C (p.Ala647Pro) n.2411G>C | |
| X | g.153743294G>T | CA415117327 | ABCD1 | c.1939G>T (p.Ala647Ser) n.2411G>T | ClinVar |
| X | g.153743295C>A | CA415117338 | ABCD1 | c.1940C>A (p.Ala647Asp) n.2412C>A | |
| X | g.153743295C>G | CA415117341 | ABCD1 | c.1940C>G (p.Ala647Gly) n.2412C>G | |
| X | g.153743295C>T | CA415117345 | ABCD1 | c.1940C>T (p.Ala647Val) n.2412C>T | gnomAD v4 |
| X | g.153743296C>A | CA519231329 | ABCD1 | c.1941C>A (p.Ala647=) n.2413C>A | |
| X | g.153743296C>G | CA519231330 | ABCD1 | c.1941C>G (p.Ala647=) n.2413C>G | |
| X | g.153743296C>T | CA519231332 | ABCD1 | c.1941C>T (p.Ala647=) n.2413C>T | ClinVar dbSNP |
| X | g.153743297A>C | CA415117351 | ABCD1 | c.1942A>C (p.Lys648Gln) n.2414A>C | |
| X | g.153743297A>G | CA415117356 | ABCD1 | c.1942A>G (p.Lys648Glu) n.2414A>G | gnomAD v4 |
| X | g.153743297A>T | CA415117371 | ABCD1 | c.1942A>T (p.Lys648Ter) n.2414A>T | |
| X | g.153743298A>C | CA415117377 | ABCD1 | c.1943A>C (p.Lys648Thr) n.2415A>C | |
| X | g.153743298A>G | CA415117380 | ABCD1 | c.1943A>G (p.Lys648Arg) n.2415A>G | |
| X | g.153743298A>T | CA415117390 | ABCD1 | c.1943A>T (p.Lys648Met) n.2415A>T | |
| X | g.153743299G>A | CA519231353 | ABCD1 | c.1944G>A (p.Lys648=) n.2416G>A | ClinVar dbSNP gnomAD v4 |
| X | g.153743299G>C | CA415117395 | ABCD1 | c.1944G>C (p.Lys648Asn) n.2416G>C | |
| X | g.153743299G>T | CA415117393 | ABCD1 | c.1944G>T (p.Lys648Asn) n.2416G>T | |
| X | g.153743300G>A | CA415117398 | ABCD1 | c.1945G>A (p.Asp649Asn) n.2417G>A | ClinVar |
| X | g.153743300G>C | CA415117402 | ABCD1 | c.1945G>C (p.Asp649His) n.2417G>C | |
| X | g.153743300G>T | CA415117407 | ABCD1 | c.1945G>T (p.Asp649Tyr) n.2417G>T | |
| X | g.153743301A>C | CA415117412 | ABCD1 | c.1946A>C (p.Asp649Ala) n.2418A>C | |
| X | g.153743301A>G | CA415117418 | ABCD1 | c.1946A>G (p.Asp649Gly) n.2418A>G | |
| X | g.153743301A>T | CA415117421 | ABCD1 | c.1946A>T (p.Asp649Val) n.2418A>T | |
| X | g.153743302C>A | CA415117431 | ABCD1 | c.1947C>A (p.Asp649Glu) n.2419C>A | |
| X | g.153743302C= | CA2466457667 | ABCD1 | c.1947C= (p.Asp649=) n.2419C= | |
| X | g.153743302C>G | CA415117439 | ABCD1 | c.1947C>G (p.Asp649Glu) n.2419C>G | |
| X | g.153743302C>T | CA519231377 | ABCD1 | c.1947C>T (p.Asp649=) n.2419C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.153743304_153743305del | CA2695236855 | ABCD1 | c.1949_1950del (p.Ala650GlyfsTer?) n.2421_2422del | |
| X | g.153743303G>A | CA415117445 | ABCD1 | c.1948G>A (p.Ala650Thr) n.2420G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.153743303G>C | CA415117451 | ABCD1 | c.1948G>C (p.Ala650Pro) n.2420G>C | ClinVar dbSNP |
| X | g.153743303G= | CA2466457668 | ABCD1 | c.1948G= (p.Ala650=) n.2420G= | |
| X | g.153743303G>T | CA415117456 | ABCD1 | c.1948G>T (p.Ala650Ser) n.2420G>T | gnomAD v4 |
| X | g.153743304C>A | CA415117459 | ABCD1 | c.1949C>A (p.Ala650Glu) n.2421C>A | dbSNP gnomAD v3 gnomAD v4 |
| X | g.153743304C= | CA2466457669 | ABCD1 | c.1949C= (p.Ala650=) n.2421C= | |
| X | g.153743304C>G | CA415117476 | ABCD1 | c.1949C>G (p.Ala650Gly) n.2421C>G | dbSNP |
| X | g.153743304C>T | CA415117457 | ABCD1 | c.1949C>T (p.Ala650Val) n.2421C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.153743305G>A | CA10550361 | ABCD1 | c.1950G>A (p.Ala650=) n.2422G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153743305G>C | CA519231393 | ABCD1 | c.1950G>C (p.Ala650=) n.2422G>C | ClinVar dbSNP |
| X | g.153743305G= | CA2466457670 | ABCD1 | c.1950G= (p.Ala650=) n.2422G= | |
| X | g.153743305G>T | CA519231397 | ABCD1 | c.1950G>T (p.Ala650=) n.2422G>T | |
| X | g.153743306G>A | CA415117487 | ABCD1 | c.1951G>A (p.Gly651Ser) n.2423G>A | |
| X | g.153743306G>C | CA415117492 | ABCD1 | c.1951G>C (p.Gly651Arg) n.2423G>C | |
| X | g.153743306G>T | CA415117501 | ABCD1 | c.1951G>T (p.Gly651Cys) n.2423G>T | |
| X | g.153743307G>A | CA415117505 | ABCD1 | c.1952G>A (p.Gly651Asp) n.2424G>A | |
| X | g.153743307G>C | CA415117507 | ABCD1 | c.1952G>C (p.Gly651Ala) n.2424G>C | |
| X | g.153743307G= | CA2466457671 | ABCD1 | c.1952G= (p.Gly651=) n.2424G= | |
| X | g.153743307G>T | CA415117526 | ABCD1 | c.1952G>T (p.Gly651Val) n.2424G>T | ClinVar dbSNP |
| X | g.153743308C>A | CA519231432 | ABCD1 | c.1953C>A (p.Gly651=) n.2425C>A | gnomAD v4 |
| X | g.153743308C>G | CA519231429 | ABCD1 | c.1953C>G (p.Gly651=) n.2425C>G | |
| X | g.153743308C>T | CA519231425 | ABCD1 | c.1953C>T (p.Gly651=) n.2425C>T | gnomAD v4 |
| X | g.153743309A>C | CA415117534 | ABCD1 | c.1954A>C (p.Ile652Leu) n.2426A>C | |
| X | g.153743309A>G | CA415117538 | ABCD1 | c.1954A>G (p.Ile652Val) n.2426A>G | |
| X | g.153743309A>T | CA415117544 | ABCD1 | c.1954A>T (p.Ile652Phe) n.2426A>T | |
| X | g.153743310T>A | CA247932 | ABCD1 | c.1955T>A (p.Ile652Asn) n.2427T>A | ClinVar dbSNP |
| X | g.153743310T>C | CA415117554 | ABCD1 | c.1955T>C (p.Ile652Thr) n.2427T>C | |
| X | g.153743310T>G | CA415117556 | ABCD1 | c.1955T>G (p.Ile652Ser) n.2427T>G | |
| X | g.153743310T= | CA2466457672 | ABCD1 | c.1955T= (p.Ile652=) n.2427T= | |
| X | g.153743311T>A | CA519346022 | ABCD1 | c.1956T>A (p.Ile652=) n.2428T>A | |
| X | g.153743311T>C | CA519346023 | ABCD1 | c.1956T>C (p.Ile652=) n.2428T>C | |
| X | g.153743311T>G | CA415117559 | ABCD1 | c.1956T>G (p.Ile652Met) n.2428T>G | |
| X | g.153743312G>A | CA415117563 | ABCD1 | c.1957G>A (p.Ala653Thr) n.2429G>A | gnomAD v4 |
| X | g.153743312G>C | CA415117567 | ABCD1 | c.1957G>C (p.Ala653Pro) n.2429G>C | |
| X | g.153743312G= | CA2466457673 | ABCD1 | c.1957G= (p.Ala653=) n.2429G= | |
| X | g.153743312G>T | CA415117584 | ABCD1 | c.1957G>T (p.Ala653Ser) n.2429G>T | |
| X | g.153743313C>A | CA415117588 | ABCD1 | c.1958C>A (p.Ala653Asp) n.2430C>A | |
| X | g.153743313C>G | CA415117593 | ABCD1 | c.1958C>G (p.Ala653Gly) n.2430C>G | |
| X | g.153743313C>T | CA415117597 | ABCD1 | c.1958C>T (p.Ala653Val) n.2430C>T | gnomAD v4 |
| X | g.153743316_153743330dup | CA1139667833 | ABCD1 | c.1961_1975dup (p.Thr658_His659insLeuLeuSerIleThr) n.2433_2447dup | ClinVar dbSNP |
| X | g.153743314C>A | CA519346027 | ABCD1 | c.1959C>A (p.Ala653=) n.2431C>A | |
| X | g.153743314C= | CA2466457674 | ABCD1 | c.1959C= (p.Ala653=) n.2431C= | |
| X | g.153743314C>G | CA519346029 | ABCD1 | c.1959C>G (p.Ala653=) n.2431C>G | |
| X | g.153743314C>T | CA519346028 | ABCD1 | c.1959C>T (p.Ala653=) n.2431C>T | dbSNP |
| X | g.153743315C>A | CA415117614 | ABCD1 | c.1960C>A (p.Leu654Met) n.2432C>A | gnomAD v4 |
| X | g.153743315C= | CA2466457675 | ABCD1 | c.1960C= (p.Leu654=) n.2432C= | |
| X | g.153743315C>G | CA415117615 | ABCD1 | c.1960C>G (p.Leu654Val) n.2432C>G | |
| X | g.153743315C>T | CA10550362 | ABCD1 | c.1960C>T (p.Leu654=) n.2432C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153743316T>A | CA415117620 | ABCD1 | c.1961T>A (p.Leu654Gln) n.2433T>A | ClinVar |
| X | g.153743316T>C | CA415117638 | ABCD1 | c.1961T>C (p.Leu654Pro) n.2433T>C | ClinVar dbSNP |
| X | g.153743316T>G | CA415117643 | ABCD1 | c.1961T>G (p.Leu654Arg) n.2433T>G | |
| X | g.153743316T= | CA2466457676 | ABCD1 | c.1961T= (p.Leu654=) n.2433T= | |
| X | g.153743317G>A | CA519346030 | ABCD1 | c.1962G>A (p.Leu654=) n.2434G>A | gnomAD v4 |
| X | g.153743317G>C | CA519346031 | ABCD1 | c.1962G>C (p.Leu654=) n.2434G>C | |
| X | g.153743317G>T | CA519346032 | ABCD1 | c.1962G>T (p.Leu654=) n.2434G>T | |
| X | g.153743318C>A | CA415117664 | ABCD1 | c.1963C>A (p.Leu655Ile) n.2435C>A | |
| X | g.153743318C>G | CA415117654 | ABCD1 | c.1963C>G (p.Leu655Val) n.2435C>G | |
| X | g.153743318C>T | CA415117650 | ABCD1 | c.1963C>T (p.Leu655Phe) n.2435C>T | gnomAD v4 |
| X | g.153743321_153743322dup | CA2580612515 | ABCD1 | c.1966_1967dup (p.Ile657ProfsTer?) n.2438_2439dup | ClinVar dbSNP |
| X | g.153743319T>A | CA415117670 | ABCD1 | c.1964T>A (p.Leu655His) n.2436T>A | |
| X | g.153743319T>C | CA415117698 | ABCD1 | c.1964T>C (p.Leu655Pro) n.2436T>C | |
| X | g.153743319T>G | CA415117675 | ABCD1 | c.1964T>G (p.Leu655Arg) n.2436T>G | |
| X | g.153743320C>A | CA519346034 | ABCD1 | c.1965C>A (p.Leu655=) n.2437C>A | |
| X | g.153743320C>G | CA519346035 | ABCD1 | c.1965C>G (p.Leu655=) n.2437C>G | ClinVar |
| X | g.153743320C>T | CA519346036 | ABCD1 | c.1965C>T (p.Leu655=) n.2437C>T | ClinVar gnomAD v4 |
| X | g.153743321T>A | CA415117702 | ABCD1 | c.1966T>A (p.Ser656Thr) n.2438T>A | |
| X | g.153743321T>C | CA415117708 | ABCD1 | c.1966T>C (p.Ser656Pro) n.2438T>C | ClinVar dbSNP gnomAD v4 |
| X | g.153743321T>G | CA415117705 | ABCD1 | c.1966T>G (p.Ser656Ala) n.2438T>G | |
| X | g.153743322C>A | CA415117715 | ABCD1 | c.1967C>A (p.Ser656Tyr) n.2439C>A | |
| X | g.153743322C= | CA2466457677 | ABCD1 | c.1967C= (p.Ser656=) n.2439C= | |
| X | g.153743322C>G | CA415117720 | ABCD1 | c.1967C>G (p.Ser656Cys) n.2439C>G | |
| X | g.153743322C>T | CA415117728 | ABCD1 | c.1967C>T (p.Ser656Phe) n.2439C>T | ClinVar dbSNP |
| X | g.153743323C>A | CA519346040 | ABCD1 | c.1968C>A (p.Ser656=) n.2440C>A | gnomAD v4 |
| X | g.153743323C>G | CA519346039 | ABCD1 | c.1968C>G (p.Ser656=) n.2440C>G | |
| X | g.153743323C>T | CA519346038 | ABCD1 | c.1968C>T (p.Ser656=) n.2440C>T | ClinVar |
| X | g.153743325_153743327del | CA1139532865 | ABCD1 | c.1970_1972del (p.Ile657del) n.2442_2444del | ClinVar dbSNP |
| X | g.153743324A>C | CA415117733 | ABCD1 | c.1969A>C (p.Ile657Leu) n.2441A>C | |
| X | g.153743324A>G | CA415117736 | ABCD1 | c.1969A>G (p.Ile657Val) n.2441A>G | |
| X | g.153743324A>T | CA415117738 | ABCD1 | c.1969A>T (p.Ile657Phe) n.2441A>T | |
| X | g.153743325T>A | CA415117743 | ABCD1 | c.1970T>A (p.Ile657Asn) n.2442T>A | |
| X | g.153743325T>C | CA415117746 | ABCD1 | c.1970T>C (p.Ile657Thr) n.2442T>C | |
| X | g.153743325T>G | CA415117747 | ABCD1 | c.1970T>G (p.Ile657Ser) n.2442T>G |