UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.153740575_153740608del | CA2695236835 | ABCD1 | c.1636_1669del n.2108_2141del | |
| X | g.153740581A= | CA2466456592 | ABCD1 | c.1642A= (p.Met548=) n.645A= n.2114A= | |
| X | g.153740581A>C | CA337241861 | ABCD1 | c.1642A>C (p.Met548Leu) n.645A>C n.2114A>C | dbSNP |
| X | g.153740581A>G | CA415112328 | ABCD1 | c.1642A>G (p.Met548Val) n.645A>G n.2114A>G | ClinVar dbSNP |
| X | g.153740581A>T | CA415112331 | ABCD1 | c.1642A>T (p.Met548Leu) n.645A>T n.2114A>T | |
| X | g.153740581_153740582del | CA2580101673 | ABCD1 | c.1642_1643del (p.Met548ValfsTer7) n.645_646del n.2114_2115del | ClinVar |
| X | g.153740582T>A | CA415112334 | ABCD1 | c.1643T>A (p.Met548Lys) n.646T>A n.2115T>A | |
| X | g.153740582T>C | CA415112342 | ABCD1 | c.1643T>C (p.Met548Thr) n.646T>C n.2115T>C | |
| X | g.153740582T>G | CA415112346 | ABCD1 | c.1643T>G (p.Met548Arg) n.646T>G n.2115T>G | |
| X | g.153740583G>A | CA415112351 | ABCD1 | c.1644G>A (p.Met548Ile) n.647G>A n.2116G>A | ClinVar dbSNP |
| X | g.153740583G>C | CA415112353 | ABCD1 | c.1644G>C (p.Met548Ile) n.647G>C n.2116G>C | |
| X | g.153740583G= | CA2466456593 | ABCD1 | c.1644G= (p.Met548=) n.647G= n.2116G= | |
| X | g.153740583G>T | CA415112357 | ABCD1 | c.1644G>T (p.Met548Ile) n.647G>T n.2116G>T | |
| X | g.153740584T>A | CA415112367 | ABCD1 | c.1645T>A (p.Ser549Thr) n.648T>A n.2117T>A | |
| X | g.153740584T>C | CA415112363 | ABCD1 | c.1645T>C (p.Ser549Pro) n.648T>C n.2117T>C | |
| X | g.153740584T>G | CA415112361 | ABCD1 | c.1645T>G (p.Ser549Ala) n.648T>G n.2117T>G | |
| X | g.153740585C>A | CA415112371 | ABCD1 | c.1646C>A (p.Ser549Tyr) n.649C>A n.2118C>A | |
| X | g.153740585C>G | CA415112374 | ABCD1 | c.1646C>G (p.Ser549Cys) n.649C>G n.2118C>G | |
| X | g.153740585C>T | CA415112381 | ABCD1 | c.1646C>T (p.Ser549Phe) n.649C>T n.2118C>T | |
| X | g.153740586T>A | CA519226620 | ABCD1 | c.1647T>A (p.Ser549=) n.650T>A n.2119T>A | |
| X | g.153740586T>C | CA519226626 | ABCD1 | c.1647T>C (p.Ser549=) n.650T>C n.2119T>C | |
| X | g.153740586T>G | CA519226631 | ABCD1 | c.1647T>G (p.Ser549=) n.650T>G n.2119T>G | |
| X | g.153740587G>A | CA337241866 | ABCD1 | c.1648G>A (p.Val550Met) n.651G>A n.2120G>A | dbSNP gnomAD v4 |
| X | g.153740587G>C | CA415112388 | ABCD1 | c.1648G>C (p.Val550Leu) n.651G>C n.2120G>C | |
| X | g.153740587G= | CA2466456594 | ABCD1 | c.1648G= (p.Val550=) n.651G= n.2120G= | |
| X | g.153740587G>T | CA415112391 | ABCD1 | c.1648G>T (p.Val550Leu) n.651G>T n.2120G>T | |
| X | g.153740588T>A | CA415112395 | ABCD1 | c.1649T>A (p.Val550Glu) n.652T>A n.2121T>A | |
| X | g.153740588T>C | CA415112399 | ABCD1 | c.1649T>C (p.Val550Ala) n.652T>C n.2121T>C | |
| X | g.153740588T>G | CA415112401 | ABCD1 | c.1649T>G (p.Val550Gly) n.652T>G n.2121T>G | |
| X | g.153740589G>A | CA519226637 | ABCD1 | c.1650G>A (p.Val550=) n.653G>A n.2122G>A | |
| X | g.153740589G>C | CA519226638 | ABCD1 | c.1650G>C (p.Val550=) n.653G>C n.2122G>C | |
| X | g.153740589G>T | CA519226640 | ABCD1 | c.1650G>T (p.Val550=) n.653G>T n.2122G>T | |
| X | g.153740590G>A | CA415112407 | ABCD1 | c.1651G>A (p.Gly551Ser) n.654G>A n.2123G>A | |
| X | g.153740590G>C | CA415112409 | ABCD1 | c.1651G>C (p.Gly551Arg) n.654G>C n.2123G>C | |
| X | g.153740590G>T | CA415112414 | ABCD1 | c.1651G>T (p.Gly551Cys) n.654G>T n.2123G>T | ClinVar dbSNP |
| X | g.153740591G>A | CA415112418 | ABCD1 | c.1652G>A (p.Gly551Asp) n.655G>A n.2124G>A | ClinVar dbSNP |
| X | g.153740591G>C | CA415112426 | ABCD1 | c.1652G>C (p.Gly551Ala) n.655G>C n.2124G>C | |
| X | g.153740591G>T | CA415112423 | ABCD1 | c.1652G>T (p.Gly551Val) n.655G>T n.2124G>T | ClinVar |
| X | g.153740592C>A | CA519226661 | ABCD1 | c.1653C>A (p.Gly551=) n.656C>A n.2125C>A | |
| X | g.153740592C= | CA2466456595 | ABCD1 | c.1653C= (p.Gly551=) n.656C= n.2125C= | |
| X | g.153740592C>G | CA519226660 | ABCD1 | c.1653C>G (p.Gly551=) n.656C>G n.2125C>G | |
| X | g.153740592C>T | CA10550290 | ABCD1 | c.1653C>T (p.Gly551=) n.656C>T n.2125C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153740593T>A | CA415112431 | ABCD1 | c.1654T>A (p.Ser552Thr) n.657T>A n.2126T>A | |
| X | g.153740593T>C | CA415112432 | ABCD1 | c.1654T>C (p.Ser552Pro) n.657T>C n.2126T>C | |
| X | g.153740593T>G | CA415112435 | ABCD1 | c.1654T>G (p.Ser552Ala) n.657T>G n.2126T>G | |
| X | g.153740594C>A | CA415112438 | ABCD1 | c.1655C>A (p.Ser552Tyr) n.658C>A n.2127C>A | |
| X | g.153740594C>G | CA415112441 | ABCD1 | c.1655C>G (p.Ser552Cys) n.658C>G n.2127C>G | |
| X | g.153740594C>T | CA415112446 | ABCD1 | c.1655C>T (p.Ser552Phe) n.658C>T n.2127C>T | |
| X | g.153740596del | CA2499226454 | ABCD1 | c.1657del (p.Leu553CysfsTer5) n.660del n.2129del | ClinVar dbSNP |
| X | g.153740595C>A | CA519226690 | ABCD1 | c.1656C>A (p.Ser552=) n.659C>A n.2128C>A | |
| X | g.153740595C>G | CA519226692 | ABCD1 | c.1656C>G (p.Ser552=) n.659C>G n.2128C>G | |
| X | g.153740595C>T | CA519226694 | ABCD1 | c.1656C>T (p.Ser552=) n.659C>T n.2128C>T | gnomAD v4 |
| X | g.153740596C>A | CA415112450 | ABCD1 | c.1657C>A (p.Leu553Met) n.660C>A n.2129C>A | |
| X | g.153740596C>G | CA415112456 | ABCD1 | c.1657C>G (p.Leu553Val) n.660C>G n.2129C>G | ClinVar dbSNP |
| X | g.153740596C>T | CA519226702 | ABCD1 | c.1657C>T (p.Leu553=) n.660C>T n.2129C>T | ClinVar dbSNP gnomAD v4 |
| X | g.153740597T>A | CA415112468 | ABCD1 | c.1658T>A (p.Leu553Gln) n.661T>A n.2130T>A | |
| X | g.153740597T>C | CA415112471 | ABCD1 | c.1658T>C (p.Leu553Pro) n.661T>C n.2130T>C | ClinVar dbSNP |
| X | g.153740597T>G | CA415112463 | ABCD1 | c.1658T>G (p.Leu553Arg) n.661T>G n.2130T>G | |
| X | g.153740597T= | CA2466456596 | ABCD1 | c.1658T= (p.Leu553=) n.661T= n.2130T= | |
| X | g.153740598G>A | CA519226715 | ABCD1 | c.1659G>A (p.Leu553=) n.662G>A n.2131G>A | ClinVar |
| X | g.153740598G>C | CA519226718 | ABCD1 | c.1659G>C (p.Leu553=) n.662G>C n.2131G>C | |
| X | g.153740598G= | CA2466456597 | ABCD1 | c.1659G= (p.Leu553=) n.662G= n.2131G= | |
| X | g.153740598G>T | CA519226720 | ABCD1 | c.1659G>T (p.Leu553=) n.662G>T n.2131G>T | |
| X | g.153740599C>A | CA278406 | ABCD1 | c.1660C>A (p.Arg554Ser) n.663C>A n.2132C>A | ClinVar dbSNP |
| X | g.153740599C= | CA2466456598 | ABCD1 | c.1660C= (p.Arg554=) n.663C= n.2132C= | |
| X | g.153740599C>G | CA415112472 | ABCD1 | c.1660C>G (p.Arg554Gly) n.663C>G n.2132C>G | |
| X | g.153740599C>T | CA10550291 | ABCD1 | c.1660C>T (p.Arg554Cys) n.663C>T n.2132C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153740599dup | CA891844161 | ABCD1 | c.1660dup (p.Arg554ProfsTer2) n.663dup n.2132dup | ClinVar dbSNP |
| X | g.153740600G>A | CA278460 | ABCD1 | c.1661G>A (p.Arg554His) n.664G>A n.2133G>A | ClinVar dbSNP |
| X | g.153740600G>C | CA415112481 | ABCD1 | c.1661G>C (p.Arg554Pro) n.664G>C n.2133G>C | |
| X | g.153740600G= | CA2466456599 | ABCD1 | c.1661G= (p.Arg554=) n.664G= n.2133G= | |
| X | g.153740600G>T | CA415112485 | ABCD1 | c.1661G>T (p.Arg554Leu) n.664G>T n.2133G>T | |
| X | g.153740601T>A | CA519226742 | ABCD1 | c.1662T>A (p.Arg554=) n.665T>A n.2134T>A | |
| X | g.153740601T>C | CA519226745 | ABCD1 | c.1662T>C (p.Arg554=) n.665T>C n.2134T>C | |
| X | g.153740601T>G | CA519226749 | ABCD1 | c.1662T>G (p.Arg554=) n.665T>G n.2134T>G | |
| X | g.153740602G>A | CA415112492 | ABCD1 | c.1663G>A (p.Asp555Asn) n.666G>A n.2135G>A | |
| X | g.153740602G>C | CA415112504 | ABCD1 | c.1663G>C (p.Asp555His) n.666G>C n.2135G>C | |
| X | g.153740602G>T | CA415112521 | ABCD1 | c.1663G>T (p.Asp555Tyr) n.666G>T n.2135G>T | |
| X | g.153740603A>C | CA415112528 | ABCD1 | c.1664A>C (p.Asp555Ala) n.667A>C n.2136A>C | |
| X | g.153740603A>G | CA415112532 | ABCD1 | c.1664A>G (p.Asp555Gly) n.667A>G n.2136A>G | |
| X | g.153740603A>T | CA415112536 | ABCD1 | c.1664A>T (p.Asp555Val) n.667A>T n.2136A>T | |
| X | g.153740604C>A | CA415112542 | ABCD1 | c.1665C>A (p.Asp555Glu) n.668C>A n.2137C>A | |
| X | g.153740604C>G | CA415112540 | ABCD1 | c.1665C>G (p.Asp555Glu) n.668C>G n.2137C>G | |
| X | g.153740604C>T | CA519226791 | ABCD1 | c.1665C>T (p.Asp555=) n.668C>T n.2137C>T | |
| X | g.153740605C>A | CA415112547 | ABCD1 | c.1666C>A (p.Gln556Lys) n.2138C>A | |
| X | g.153740605C>G | CA415112550 | ABCD1 | c.1666C>G (p.Gln556Glu) n.2138C>G | |
| X | g.153740605C>T | CA415112552 | ABCD1 | c.1666C>T (p.Gln556Ter) n.2138C>T | |
| X | g.153740606A= | CA2466456600 | ABCD1 | c.1667A= (p.Gln556=) n.2139A= | |
| X | g.153740606A>C | CA415112561 | ABCD1 | c.1667A>C (p.Gln556Pro) n.2139A>C | |
| X | g.153740606A>G | CA415112564 | ABCD1 | c.1667A>G (p.Gln556Arg) n.2139A>G | ClinVar |
| X | g.153740606A>T | CA415112568 | ABCD1 | c.1667A>T (p.Gln556Leu) n.2139A>T | ClinVar dbSNP |
| X | g.153740607G>A | CA519226804 | ABCD1 | c.1668G>A (p.Gln556=) n.2140G>A | |
| X | g.153740607G>C | CA415112570 | ABCD1 | c.1668G>C (p.Gln556His) n.2140G>C | |
| X | g.153740607G= | CA2466456601 | ABCD1 | c.1668G= (p.Gln556=) n.2140G= | |
| X | g.153740607G>T | CA415112571 | ABCD1 | c.1668G>T (p.Gln556His) n.2140G>T | ClinVar dbSNP |
| X | g.153740607_153740609delinsGGT | CA2466456602 | ABCD1 | c.1668_1670delinsGGT (p.Gln556=) n.2140_2142delinsGGT | |
| X | g.153740608G>A | CA337241890 | ABCD1 | c.1669G>A (p.Val557Met) n.2141G>A | dbSNP gnomAD v4 |
| X | g.153740608G>C | CA415112582 | ABCD1 | c.1669G>C (p.Val557Leu) n.2141G>C | |
| X | g.153740608G= | CA2466456603 | ABCD1 | c.1669G= (p.Val557=) n.2141G= | |
| X | g.153740608G>T | CA415112586 | ABCD1 | c.1669G>T (p.Val557Leu) n.2141G>T | |
| X | g.153740609_153740610del | CA915951987 | ABCD1 | c.1670_1671del (p.Val557AspfsTer?) n.2142_2143del | ClinVar dbSNP |
| X | g.153740609T>A | CA415112598 | ABCD1 | c.1670T>A (p.Val557Glu) n.2142T>A | |
| X | g.153740609T>C | CA415112602 | ABCD1 | c.1670T>C (p.Val557Ala) n.2142T>C | ClinVar |
| X | g.153740609T>G | CA415112591 | ABCD1 | c.1670T>G (p.Val557Gly) n.2142T>G | ClinVar dbSNP gnomAD v4 |
| X | g.153740609T= | CA2466456604 | ABCD1 | c.1670T= (p.Val557=) n.2142T= | |
| X | g.153740610G>A | CA519226826 | ABCD1 | c.1671G>A (p.Val557=) n.2143G>A | |
| X | g.153740610G>C | CA519226827 | ABCD1 | c.1671G>C (p.Val557=) n.2143G>C | |
| X | g.153740610G>T | CA519226828 | ABCD1 | c.1671G>T (p.Val557=) n.2143G>T | |
| X | g.153740611A>C | CA415112606 | ABCD1 | c.1672A>C (p.Ile558Leu) n.2144A>C | |
| X | g.153740611A>G | CA415112613 | ABCD1 | c.1672A>G (p.Ile558Val) n.2144A>G | |
| X | g.153740611A>T | CA415112616 | ABCD1 | c.1672A>T (p.Ile558Phe) n.2144A>T | ClinVar |
| X | g.153740612T>A | CA415112621 | ABCD1 | c.1673T>A (p.Ile558Asn) n.2145T>A | |
| X | g.153740612T>C | CA415112624 | ABCD1 | c.1673T>C (p.Ile558Thr) n.2145T>C | |
| X | g.153740612T>G | CA415112635 | ABCD1 | c.1673T>G (p.Ile558Ser) n.2145T>G | |
| X | g.153740613C>A | CA519226865 | ABCD1 | c.1674C>A (p.Ile558=) n.2146C>A | |
| X | g.153740613C>G | CA415112636 | ABCD1 | c.1674C>G (p.Ile558Met) n.2146C>G | |
| X | g.153740613C>T | CA519226860 | ABCD1 | c.1674C>T (p.Ile558=) n.2146C>T | |
| X | g.153740614T>A | CA415112637 | ABCD1 | c.1675T>A (p.Tyr559Asn) n.2147T>A | |
| X | g.153740614T>C | CA415112639 | ABCD1 | c.1675T>C (p.Tyr559His) n.2147T>C | ClinVar dbSNP |
| X | g.153740614T>G | CA415112642 | ABCD1 | c.1675T>G (p.Tyr559Asp) n.2147T>G | |
| X | g.153740614T= | CA2466456605 | ABCD1 | c.1675T= (p.Tyr559=) n.2147T= | |
| X | g.153740615A>C | CA415112654 | ABCD1 | c.1676A>C (p.Tyr559Ser) n.2148A>C | |
| X | g.153740615A>G | CA415112656 | ABCD1 | c.1676A>G (p.Tyr559Cys) n.2148A>G | |
| X | g.153740615A>T | CA415112660 | ABCD1 | c.1676A>T (p.Tyr559Phe) n.2148A>T | |
| X | g.153740616C>A | CA415112665 | ABCD1 | c.1677C>A (p.Tyr559Ter) n.2149C>A | ClinVar dbSNP |
| X | g.153740616C>G | CA415112669 | ABCD1 | c.1677C>G (p.Tyr559Ter) n.2149C>G | |
| X | g.153740616C>T | CA519226883 | ABCD1 | c.1677C>T (p.Tyr559=) n.2149C>T | |
| X | g.153740617C>A | CA415112672 | ABCD1 | c.1678C>A (p.Pro560Thr) n.2150C>A | ClinVar dbSNP |
| X | g.153740617C= | CA2466456606 | ABCD1 | c.1678C= (p.Pro560=) n.2150C= | |
| X | g.153740617C>G | CA415112675 | ABCD1 | c.1678C>G (p.Pro560Ala) n.2150C>G | |
| X | g.153740617C>T | CA415112676 | ABCD1 | c.1678C>T (p.Pro560Ser) n.2150C>T | ClinVar |
| X | g.153740618C>A | CA415112677 | ABCD1 | c.1679C>A (p.Pro560Gln) n.2151C>A | gnomAD v4 |
| X | g.153740618C= | CA2466456607 | ABCD1 | c.1679C= (p.Pro560=) n.2151C= | |
| X | g.153740618C>G | CA415112678 | ABCD1 | c.1679C>G (p.Pro560Arg) n.2151C>G | ClinVar dbSNP |
| X | g.153740618C>T | CA278408 | ABCD1 | c.1679C>T (p.Pro560Leu) n.2151C>T | ClinVar dbSNP gnomAD v4 |
| X | g.153740619G>A | CA10550292 | ABCD1 | c.1680G>A (p.Pro560=) n.2152G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153740619G>C | CA519226906 | ABCD1 | c.1680G>C (p.Pro560=) n.2152G>C | |
| X | g.153740619G= | CA2466456608 | ABCD1 | c.1680G= (p.Pro560=) n.2152G= | |
| X | g.153740619G>T | CA519226904 | ABCD1 | c.1680G>T (p.Pro560=) n.2152G>T | |
| X | g.153740620G>A | CA415112687 | ABCD1 | c.1681G>A (p.Asp561Asn) n.2153G>A | ClinVar dbSNP gnomAD v4 |
| X | g.153740620G>C | CA415112690 | ABCD1 | c.1681G>C (p.Asp561His) n.2153G>C | |
| X | g.153740620G= | CA2466456609 | ABCD1 | c.1681G= (p.Asp561=) n.2153G= | |
| X | g.153740620G>T | CA415112693 | ABCD1 | c.1681G>T (p.Asp561Tyr) n.2153G>T | ClinVar |
| X | g.153740621A>C | CA415112697 | ABCD1 | c.1682A>C (p.Asp561Ala) n.2154A>C | |
| X | g.153740621A>G | CA415112698 | ABCD1 | c.1682A>G (p.Asp561Gly) n.2154A>G | |
| X | g.153740621A>T | CA415112699 | ABCD1 | c.1682A>T (p.Asp561Val) n.2154A>T | |
| X | g.153740622C>A | CA415112702 | ABCD1 | c.1683C>A (p.Asp561Glu) n.2155C>A | |
| X | g.153740622C= | CA2466456610 | ABCD1 | c.1683C= (p.Asp561=) n.2155C= | |
| X | g.153740622C>G | CA415112703 | ABCD1 | c.1683C>G (p.Asp561Glu) n.2155C>G | |
| X | g.153740622C>T | CA337241902 | ABCD1 | c.1683C>T (p.Asp561=) n.2155C>T | ClinVar dbSNP gnomAD v2 |
| X | g.153740623T>A | CA415112704 | ABCD1 | c.1684T>A (p.Ser562Thr) n.2156T>A | ClinVar dbSNP |
| X | g.153740623T>C | CA415112708 | ABCD1 | c.1684T>C (p.Ser562Pro) n.2156T>C | ClinVar dbSNP |
| X | g.153740623T>G | CA415112705 | ABCD1 | c.1684T>G (p.Ser562Ala) n.2156T>G | |
| X | g.153740623T= | CA2466456611 | ABCD1 | c.1684T= (p.Ser562=) n.2156T= | |
| 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 |