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.153725500_153725831del | CA2580101691 | ABCD1 | c.234_565del (p.Leu79AlafsTer5) n.650_981del | ClinVar |
| X | g.153725698_153725712delinsCCC | CA2695237387 | ABCD1 | c.432_446delinsCCC (p.Thr145_Ser149delinsPro) n.848_862delinsCCC | |
| X | g.153725703T>A | CA415098851 | ABCD1 | c.437T>A (p.Phe146Tyr) n.853T>A | |
| X | g.153725703T>C | CA415098852 | ABCD1 | c.437T>C (p.Phe146Ser) n.853T>C | |
| X | g.153725703T>G | CA415098853 | ABCD1 | c.437T>G (p.Phe146Cys) n.853T>G | |
| X | g.153725704del | CA2695237388 | ABCD1 | c.438del (p.Phe146LeufsTer?) n.854del | |
| X | g.153725704C>A | CA415098854 | ABCD1 | c.438C>A (p.Phe146Leu) n.854C>A | |
| X | g.153725704C>G | CA415098855 | ABCD1 | c.438C>G (p.Phe146Leu) n.854C>G | |
| X | g.153725704C>T | CA519345567 | ABCD1 | c.438C>T (p.Phe146=) n.854C>T | ClinVar gnomAD v4 |
| X | g.153725705G>A | CA10549957 | ABCD1 | c.439G>A (p.Val147Ile) n.855G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153725705G>C | CA415098856 | ABCD1 | c.439G>C (p.Val147Leu) n.855G>C | |
| X | g.153725705G= | CA2466451026 | ABCD1 | c.439G= (p.Val147=) n.855G= | |
| X | g.153725705G>T | CA415098857 | ABCD1 | c.439G>T (p.Val147Phe) n.855G>T | |
| X | g.153725706T>A | CA415098859 | ABCD1 | c.440T>A (p.Val147Asp) n.856T>A | |
| X | g.153725706T>C | CA415098860 | ABCD1 | c.440T>C (p.Val147Ala) n.856T>C | |
| X | g.153725706T>G | CA415098858 | ABCD1 | c.440T>G (p.Val147Gly) n.856T>G | |
| X | g.153725707C>A | CA519345571 | ABCD1 | c.441C>A (p.Val147=) n.857C>A | |
| X | g.153725707C>G | CA519345573 | ABCD1 | c.441C>G (p.Val147=) n.857C>G | |
| X | g.153725707C>T | CA519345572 | ABCD1 | c.441C>T (p.Val147=) n.857C>T | ClinVar dbSNP |
| X | g.153725708A= | CA2466451027 | ABCD1 | c.442A= (p.Asn148=) n.858A= | |
| X | g.153725708A>C | CA415098861 | ABCD1 | c.442A>C (p.Asn148His) n.858A>C | |
| X | g.153725708A>G | CA415098862 | ABCD1 | c.442A>G (p.Asn148Asp) n.858A>G | ClinVar dbSNP |
| X | g.153725708A>T | CA415098863 | ABCD1 | c.442A>T (p.Asn148Tyr) n.858A>T | ClinVar dbSNP |
| X | g.153725708_153725710delinsTGTTGA | CA2695237391 | ABCD1 | c.442_444delinsTGTTGA (p.Asn148CysfsTer2) n.858_860delinsTGTTGA | |
| X | g.153725709A= | CA2466451028 | ABCD1 | c.443A= (p.Asn148=) n.859A= | |
| X | g.153725709A>C | CA415098864 | ABCD1 | c.443A>C (p.Asn148Thr) n.859A>C | |
| X | g.153725709A>G | CA278103 | ABCD1 | c.443A>G (p.Asn148Ser) n.859A>G | ClinVar dbSNP |
| X | g.153725709A>T | CA415098865 | ABCD1 | c.443A>T (p.Asn148Ile) n.859A>T | |
| X | g.153725710C>A | CA415098866 | ABCD1 | c.444C>A (p.Asn148Lys) n.860C>A | |
| X | g.153725710C>G | CA415098867 | ABCD1 | c.444C>G (p.Asn148Lys) n.860C>G | |
| X | g.153725710C>T | CA519345577 | ABCD1 | c.444C>T (p.Asn148=) n.860C>T | |
| X | g.153725711_153725715del | CA2739290596 | ABCD1 | c.445_449del (p.Ser149HisfsTer?) n.861_865del | |
| X | g.153725711A= | CA2466451029 | ABCD1 | c.445A= (p.Ser149=) n.861A= | |
| X | g.153725711A>C | CA415098868 | ABCD1 | c.445A>C (p.Ser149Arg) n.861A>C | |
| X | g.153725711A>G | CA415098869 | ABCD1 | c.445A>G (p.Ser149Gly) n.861A>G | dbSNP gnomAD v4 |
| X | g.153725711A>T | CA415098870 | ABCD1 | c.445A>T (p.Ser149Cys) n.861A>T | |
| X | g.153725712G>A | CA415098872 | ABCD1 | c.446G>A (p.Ser149Asn) n.862G>A | |
| X | g.153725712G>C | CA415098873 | ABCD1 | c.446G>C (p.Ser149Thr) n.862G>C | gnomAD v4 |
| X | g.153725712G>T | CA415098871 | ABCD1 | c.446G>T (p.Ser149Ile) n.862G>T | |
| X | g.153725713T>A | CA415098874 | ABCD1 | c.447T>A (p.Ser149Arg) n.863T>A | |
| X | g.153725713T>C | CA519345581 | ABCD1 | c.447T>C (p.Ser149=) n.863T>C | |
| X | g.153725713T>G | CA415098875 | ABCD1 | c.447T>G (p.Ser149Arg) n.863T>G | |
| X | g.153725714G>A | CA415098876 | ABCD1 | c.448G>A (p.Ala150Thr) n.864G>A | |
| X | g.153725714G>C | CA415098877 | ABCD1 | c.448G>C (p.Ala150Pro) n.864G>C | |
| X | g.153725714G>T | CA415098878 | ABCD1 | c.448G>T (p.Ala150Ser) n.864G>T | |
| X | g.153725715C>A | CA415098881 | ABCD1 | c.449C>A (p.Ala150Asp) n.865C>A | |
| X | g.153725715C>G | CA415098879 | ABCD1 | c.449C>G (p.Ala150Gly) n.865C>G | |
| X | g.153725715C>T | CA415098880 | ABCD1 | c.449C>T (p.Ala150Val) n.865C>T | |
| X | g.153725716C>A | CA519345585 | ABCD1 | c.450C>A (p.Ala150=) n.866C>A | |
| X | g.153725716C>G | CA519345584 | ABCD1 | c.450C>G (p.Ala150=) n.866C>G | |
| X | g.153725716C>T | CA519345582 | ABCD1 | c.450C>T (p.Ala150=) n.866C>T | ClinVar |
| X | g.153725717A>C | CA415098882 | ABCD1 | c.451A>C (p.Ile151Leu) n.867A>C | |
| X | g.153725717A>G | CA415098883 | ABCD1 | c.451A>G (p.Ile151Val) n.867A>G | ClinVar gnomAD v4 |
| X | g.153725717A>T | CA415098884 | ABCD1 | c.451A>T (p.Ile151Phe) n.867A>T | |
| X | g.153725718T>A | CA415098885 | ABCD1 | c.452T>A (p.Ile151Asn) n.868T>A | |
| X | g.153725718T>C | CA415098886 | ABCD1 | c.452T>C (p.Ile151Thr) n.868T>C | ClinVar dbSNP |
| X | g.153725718T>G | CA415098887 | ABCD1 | c.452T>G (p.Ile151Ser) n.868T>G | |
| X | g.153725718T= | CA2466451030 | ABCD1 | c.452T= (p.Ile151=) n.868T= | |
| X | g.153725719C>A | CA519345586 | ABCD1 | c.453C>A (p.Ile151=) n.869C>A | |
| X | g.153725719C>G | CA415098888 | ABCD1 | c.453C>G (p.Ile151Met) n.869C>G | |
| X | g.153725719C>T | CA519345587 | ABCD1 | c.453C>T (p.Ile151=) n.869C>T | |
| X | g.153725720C>A | CA415098890 | ABCD1 | c.454C>A (p.Arg152Ser) n.870C>A | ClinVar dbSNP |
| X | g.153725720C= | CA2466451031 | ABCD1 | c.454C= (p.Arg152=) n.870C= | |
| X | g.153725720C>G | CA415098889 | ABCD1 | c.454C>G (p.Arg152Gly) n.870C>G | ClinVar dbSNP |
| X | g.153725720C>T | CA415098891 | ABCD1 | c.454C>T (p.Arg152Cys) n.870C>T | ClinVar dbSNP gnomAD v4 |
| X | g.153725721G>A | CA415098892 | ABCD1 | c.455G>A (p.Arg152His) n.871G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.153725721G>C | CA415098893 | ABCD1 | c.455G>C (p.Arg152Pro) n.871G>C | ClinVar dbSNP |
| X | g.153725721G= | CA2466451032 | ABCD1 | c.455G= (p.Arg152=) n.871G= | |
| X | g.153725721G>T | CA415098894 | ABCD1 | c.455G>T (p.Arg152Leu) n.871G>T | |
| X | g.153725722T>A | CA519345591 | ABCD1 | c.456T>A (p.Arg152=) n.872T>A | |
| X | g.153725722T>C | CA519345592 | ABCD1 | c.456T>C (p.Arg152=) n.872T>C | |
| X | g.153725722T>G | CA519345593 | ABCD1 | c.456T>G (p.Arg152=) n.872T>G | |
| X | g.153725722_153725723del | CA2580612510 | ABCD1 | c.456_457del (p.Tyr153ProfsTer?) n.872_873del | ClinVar |
| X | g.153725723T>A | CA415098895 | ABCD1 | c.457T>A (p.Tyr153Asn) n.873T>A | |
| X | g.153725723T>C | CA415098896 | ABCD1 | c.457T>C (p.Tyr153His) n.873T>C | |
| X | g.153725723T>G | CA415098897 | ABCD1 | c.457T>G (p.Tyr153Asp) n.873T>G | |
| X | g.153725724A>C | CA415098898 | ABCD1 | c.458A>C (p.Tyr153Ser) n.874A>C | |
| X | g.153725724A>G | CA415098899 | ABCD1 | c.458A>G (p.Tyr153Cys) n.874A>G | |
| X | g.153725724A>T | CA415098900 | ABCD1 | c.458A>T (p.Tyr153Phe) n.874A>T | |
| X | g.153725725C>A | CA415098901 | ABCD1 | c.459C>A (p.Tyr153Ter) n.875C>A | |
| X | g.153725725C>G | CA415098902 | ABCD1 | c.459C>G (p.Tyr153Ter) n.875C>G | |
| X | g.153725725C>T | CA519345595 | ABCD1 | c.459C>T (p.Tyr153=) n.875C>T | gnomAD v4 |
| X | g.153725726C>A | CA415098904 | ABCD1 | c.460C>A (p.Leu154Met) n.876C>A | |
| X | g.153725726C= | CA2466451033 | ABCD1 | c.460C= (p.Leu154=) n.876C= | |
| X | g.153725726C>G | CA415098903 | ABCD1 | c.460C>G (p.Leu154Val) n.876C>G | |
| X | g.153725726C>T | CA10549958 | ABCD1 | c.460C>T (p.Leu154=) n.876C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153725727T>A | CA415098905 | ABCD1 | c.461T>A (p.Leu154Gln) n.877T>A | |
| X | g.153725727T>C | CA415098906 | ABCD1 | c.461T>C (p.Leu154Pro) n.877T>C | |
| X | g.153725727T>G | CA415098907 | ABCD1 | c.461T>G (p.Leu154Arg) n.877T>G | |
| X | g.153725728_153725747del | CA2695237395 | ABCD1 | c.462_481del (p.Glu155ValfsTer?) n.878_897del | |
| X | g.153725728G>A | CA519345596 | ABCD1 | c.462G>A (p.Leu154=) n.878G>A | |
| X | g.153725728G>C | CA519345597 | ABCD1 | c.462G>C (p.Leu154=) n.878G>C | |
| X | g.153725728G>T | CA519345598 | ABCD1 | c.462G>T (p.Leu154=) n.878G>T | |
| X | g.153725729G>A | CA415098908 | ABCD1 | c.463G>A (p.Glu155Lys) n.879G>A | COSMIC |
| X | g.153725729G>C | CA415098909 | ABCD1 | c.463G>C (p.Glu155Gln) n.879G>C | |
| X | g.153725729G>T | CA415098910 | ABCD1 | c.463G>T (p.Glu155Ter) n.879G>T | |
| X | g.153725730A>C | CA415098911 | ABCD1 | c.464A>C (p.Glu155Ala) n.880A>C | |
| X | g.153725730A>G | CA415098912 | ABCD1 | c.464A>G (p.Glu155Gly) n.880A>G | |
| X | g.153725730A>T | CA415098913 | ABCD1 | c.464A>T (p.Glu155Val) n.880A>T | |
| X | g.153725731G>A | CA519345602 | ABCD1 | c.465G>A (p.Glu155=) n.881G>A | gnomAD v4 |
| X | g.153725731G>C | CA415098914 | ABCD1 | c.465G>C (p.Glu155Asp) n.881G>C | |
| X | g.153725731G>T | CA415098915 | ABCD1 | c.465G>T (p.Glu155Asp) n.881G>T | |
| X | g.153725732G>A | CA415098918 | ABCD1 | c.466G>A (p.Gly156Ser) n.882G>A | gnomAD v4 |
| X | g.153725732G>C | CA415098917 | ABCD1 | c.466G>C (p.Gly156Arg) n.882G>C | |
| X | g.153725732G>T | CA415098916 | ABCD1 | c.466G>T (p.Gly156Cys) n.882G>T | |
| X | g.153725733G>A | CA415098919 | ABCD1 | c.467G>A (p.Gly156Asp) n.883G>A | ClinVar dbSNP |
| X | g.153725733G>C | CA415098920 | ABCD1 | c.467G>C (p.Gly156Ala) n.883G>C | dbSNP gnomAD v4 |
| X | g.153725733G= | CA2466451034 | ABCD1 | c.467G= (p.Gly156=) n.883G= | |
| X | g.153725733G>T | CA415098921 | ABCD1 | c.467G>T (p.Gly156Val) n.883G>T | |
| X | g.153725734C>A | CA519345606 | ABCD1 | c.468C>A (p.Gly156=) n.884C>A | |
| X | g.153725734C>G | CA519345607 | ABCD1 | c.468C>G (p.Gly156=) n.884C>G | |
| X | g.153725734C>T | CA519345608 | ABCD1 | c.468C>T (p.Gly156=) n.884C>T | gnomAD v4 |
| X | g.153725735C>A | CA415098922 | ABCD1 | c.469C>A (p.Gln157Lys) n.885C>A | |
| X | g.153725735C>G | CA415098923 | ABCD1 | c.469C>G (p.Gln157Glu) n.885C>G | ClinVar dbSNP |
| X | g.153725735C>T | CA415098924 | ABCD1 | c.469C>T (p.Gln157Ter) n.885C>T | ClinVar |
| X | g.153725736A>C | CA415098925 | ABCD1 | c.470A>C (p.Gln157Pro) n.886A>C | |
| X | g.153725736A>G | CA415098926 | ABCD1 | c.470A>G (p.Gln157Arg) n.886A>G | |
| X | g.153725736A>T | CA415098927 | ABCD1 | c.470A>T (p.Gln157Leu) n.886A>T | |
| X | g.153725737A= | CA2466451035 | ABCD1 | c.471A= (p.Gln157=) n.887A= | |
| X | g.153725737A>C | CA415098928 | ABCD1 | c.471A>C (p.Gln157His) n.887A>C | |
| X | g.153725737A>G | CA10549959 | ABCD1 | c.471A>G (p.Gln157=) n.887A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153725737A>T | CA415098929 | ABCD1 | c.471A>T (p.Gln157His) n.887A>T | |
| X | g.153725738C>A | CA415098930 | ABCD1 | c.472C>A (p.Leu158Met) n.888C>A | |
| X | g.153725738C= | CA2466451036 | ABCD1 | c.472C= (p.Leu158=) n.888C= | |
| X | g.153725738C>G | CA10549960 | ABCD1 | c.472C>G (p.Leu158Val) n.888C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153725738C>T | CA519345611 | ABCD1 | c.472C>T (p.Leu158=) n.888C>T | |
| X | g.153725742_153725765del | CA2580101705 | ABCD1 | c.476_499del (p.Ala159_Leu166del) n.892_915del | ClinVar |
| X | g.153725739T>A | CA415098931 | ABCD1 | c.473T>A (p.Leu158Gln) n.889T>A | ClinVar |
| X | g.153725739T>C | CA415098932 | ABCD1 | c.473T>C (p.Leu158Pro) n.889T>C | |
| X | g.153725739T>G | CA415098933 | ABCD1 | c.473T>G (p.Leu158Arg) n.889T>G | |
| X | g.153725740G>A | CA519345613 | ABCD1 | c.474G>A (p.Leu158=) n.890G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.153725740G>C | CA519345614 | ABCD1 | c.474G>C (p.Leu158=) n.890G>C | |
| X | g.153725740G= | CA2466451037 | ABCD1 | c.474G= (p.Leu158=) n.890G= | |
| X | g.153725740G>T | CA519345615 | ABCD1 | c.474G>T (p.Leu158=) n.890G>T | |
| X | g.153725741G>A | CA415098934 | ABCD1 | c.475G>A (p.Ala159Thr) n.891G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153725741G>C | CA415098935 | ABCD1 | c.475G>C (p.Ala159Pro) n.891G>C | |
| X | g.153725741G= | CA2466451038 | ABCD1 | c.475G= (p.Ala159=) n.891G= | |
| X | g.153725741G>T | CA415098936 | ABCD1 | c.475G>T (p.Ala159Ser) n.891G>T | |
| X | g.153725742C>A | CA415098937 | ABCD1 | c.476C>A (p.Ala159Asp) n.892C>A | |
| X | g.153725742C= | CA2466451039 | ABCD1 | c.476C= (p.Ala159=) n.892C= | |
| X | g.153725742C>G | CA10549961 | ABCD1 | c.476C>G (p.Ala159Gly) n.892C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153725742C>T | CA415098938 | ABCD1 | c.476C>T (p.Ala159Val) n.892C>T | COSMIC |
| X | g.153725743C>A | CA519345617 | ABCD1 | c.477C>A (p.Ala159=) n.893C>A | |
| X | g.153725743C= | CA2466451040 | ABCD1 | c.477C= (p.Ala159=) n.893C= | |
| X | g.153725743C>G | CA519345616 | ABCD1 | c.477C>G (p.Ala159=) n.893C>G | |
| X | g.153725743C>T | CA10549962 | ABCD1 | c.477C>T (p.Ala159=) n.893C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153725744C>A | CA415098939 | ABCD1 | c.478C>A (p.Leu160Met) n.894C>A | |
| X | g.153725744C= | CA2466451041 | ABCD1 | c.478C= (p.Leu160=) n.894C= | |
| X | g.153725744C>G | CA415098940 | ABCD1 | c.478C>G (p.Leu160Val) n.894C>G | |
| X | g.153725744C>T | CA519345618 | ABCD1 | c.478C>T (p.Leu160=) n.894C>T | ClinVar dbSNP gnomAD v4 |
| X | g.153725745T>A | CA415098943 | ABCD1 | c.479T>A (p.Leu160Gln) n.895T>A | |
| X | g.153725745T>C | CA415098942 | ABCD1 | c.479T>C (p.Leu160Pro) n.895T>C | ClinVar dbSNP |
| X | g.153725745T>G | CA415098941 | ABCD1 | c.479T>G (p.Leu160Arg) n.895T>G | |
| X | g.153725745T= | CA2466451042 | ABCD1 | c.479T= (p.Leu160=) n.895T= | |
| X | g.153725746G>A | CA519345619 | ABCD1 | c.480G>A (p.Leu160=) n.896G>A | ClinVar dbSNP gnomAD v4 |
| X | g.153725746G>C | CA519345620 | ABCD1 | c.480G>C (p.Leu160=) n.896G>C | |
| X | g.153725746G>T | CA519345622 | ABCD1 | c.480G>T (p.Leu160=) n.896G>T | |
| X | g.153725747T>A | CA415098944 | ABCD1 | c.481T>A (p.Ser161Thr) n.897T>A | |
| X | g.153725747T>C | CA415098946 | ABCD1 | c.481T>C (p.Ser161Pro) n.897T>C | ClinVar dbSNP |
| X | g.153725747T>G | CA415098945 | ABCD1 | c.481T>G (p.Ser161Ala) n.897T>G | |
| X | g.153725748C>A | CA415098947 | ABCD1 | c.482C>A (p.Ser161Ter) n.898C>A | ClinVar dbSNP |
| X | g.153725748C= | CA2466451043 | ABCD1 | c.482C= (p.Ser161=) n.898C= | |
| X | g.153725748C>G | CA337233997 | ABCD1 | c.482C>G (p.Ser161Trp) n.898C>G | dbSNP gnomAD v4 |
| X | g.153725748C>T | CA415098948 | ABCD1 | c.482C>T (p.Ser161Leu) n.898C>T | dbSNP |
| X | g.153725748_153725749delinsCG | CA2466451044 | ABCD1 | c.482_483delinsCG (p.Ser161=) n.898_899delinsCG | |
| X | g.153725749del | CA1139667825 | ABCD1 | c.483del (p.Phe162SerfsTer?) n.899del | ClinVar dbSNP |
| X | g.153725749G>A | CA10549963 | ABCD1 | c.483G>A (p.Ser161=) n.899G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153725749G>C | CA519345625 | ABCD1 | c.483G>C (p.Ser161=) n.899G>C | dbSNP gnomAD v3 gnomAD v4 |
| X | g.153725749G= | CA2466451045 | ABCD1 | c.483G= (p.Ser161=) n.899G= | |
| X | g.153725749G>T | CA337234016 | ABCD1 | c.483G>T (p.Ser161=) n.899G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153725750T>A | CA415098949 | ABCD1 | c.484T>A (p.Phe162Ile) n.900T>A | |
| X | g.153725750T>C | CA415098950 | ABCD1 | c.484T>C (p.Phe162Leu) n.900T>C | |
| X | g.153725750T>G | CA415098951 | ABCD1 | c.484T>G (p.Phe162Val) n.900T>G | |
| X | g.153725751T>A | CA415098952 | ABCD1 | c.485T>A (p.Phe162Tyr) n.901T>A | |
| X | g.153725751T>C | CA415098953 | ABCD1 | c.485T>C (p.Phe162Ser) n.901T>C | ClinVar dbSNP gnomAD v4 |
| X | g.153725751T>G | CA415098954 | ABCD1 | c.485T>G (p.Phe162Cys) n.901T>G | |
| X | g.153725752C>A | CA415098955 | ABCD1 | c.486C>A (p.Phe162Leu) n.902C>A | |
| X | g.153725752C>G | CA415098956 | ABCD1 | c.486C>G (p.Phe162Leu) n.902C>G | |
| X | g.153725752C>T | CA519345630 | ABCD1 | c.486C>T (p.Phe162=) n.902C>T | |
| X | g.153725753del | CA2580101708 | ABCD1 | c.487del (p.Arg163AlafsTer?) n.903del | ClinVar |
| X | g.153725753C>A | CA415098957 | ABCD1 | c.487C>A (p.Arg163Ser) n.903C>A | |
| X | g.153725753C= | CA2466451046 | ABCD1 | c.487C= (p.Arg163=) n.903C= | |
| X | g.153725753C>G | CA415098958 | ABCD1 | c.487C>G (p.Arg163Gly) n.903C>G | ClinVar dbSNP |
| X | g.153725753C>T | CA415098959 | ABCD1 | c.487C>T (p.Arg163Cys) n.903C>T | ClinVar dbSNP |
| X | g.153725754G>A | CA16043184 | ABCD1 | c.488G>A (p.Arg163His) n.904G>A | ClinVar dbSNP gnomAD v4 |
| X | g.153725754G>C | CA415098961 | ABCD1 | c.488G>C (p.Arg163Pro) n.904G>C | ClinVar dbSNP |
| X | g.153725754G= | CA2466451047 | ABCD1 | c.488G= (p.Arg163=) n.904G= | |
| X | g.153725754G>T | CA415098960 | ABCD1 | c.488G>T (p.Arg163Leu) n.904G>T | ClinVar dbSNP gnomAD v4 |
| X | g.153725755C>A | CA519345631 | ABCD1 | c.489C>A (p.Arg163=) n.905C>A | |
| X | g.153725755C>G | CA519345632 | ABCD1 | c.489C>G (p.Arg163=) n.905C>G | |
| X | g.153725755C>T | CA519345634 | ABCD1 | c.489C>T (p.Arg163=) n.905C>T | ClinVar |
| X | g.153725756A>C | CA415098962 | ABCD1 | c.490A>C (p.Ser164Arg) n.906A>C | |
| X | g.153725756A>G | CA415098963 | ABCD1 | c.490A>G (p.Ser164Gly) n.906A>G | |
| X | g.153725756A>T | CA415098964 | ABCD1 | c.490A>T (p.Ser164Cys) n.906A>T | |
| X | g.153725757G>A | CA415098965 | ABCD1 | c.491G>A (p.Ser164Asn) n.907G>A | gnomAD v4 |
| X | g.153725757G>C | CA415098966 | ABCD1 | c.491G>C (p.Ser164Thr) n.907G>C | |
| X | g.153725757G>T | CA415098967 | ABCD1 | c.491G>T (p.Ser164Ile) n.907G>T | |
| X | g.153725758C>A | CA415098968 | ABCD1 | c.492C>A (p.Ser164Arg) n.908C>A | |
| X | g.153725758C>G | CA415098969 | ABCD1 | c.492C>G (p.Ser164Arg) n.908C>G | |
| X | g.153725758C>T | CA519345637 | ABCD1 | c.492C>T (p.Ser164=) n.908C>T | |
| X | g.153725759C>A | CA415098970 | ABCD1 | c.493C>A (p.Arg165Ser) n.909C>A | |
| X | g.153725759C= | CA2466451048 | ABCD1 | c.493C= (p.Arg165=) n.909C= | |
| X | g.153725759C>G | CA415098971 | ABCD1 | c.493C>G (p.Arg165Gly) n.909C>G | |
| X | g.153725759C>T | CA337234052 | ABCD1 | c.493C>T (p.Arg165Cys) n.909C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153725760del | CA2695237404 | ABCD1 | c.494del (p.Arg165LeufsTer?) n.910del | |
| X | g.153725760G>A | CA415098972 | ABCD1 | c.494G>A (p.Arg165His) n.910G>A | dbSNP gnomAD v3 gnomAD v4 |
| X | g.153725760G>C | CA415098974 | ABCD1 | c.494G>C (p.Arg165Pro) n.910G>C | |
| X | g.153725760G= | CA2466451050 | ABCD1 | c.494G= (p.Arg165=) n.910G= | |
| X | g.153725760G>T | CA415098973 | ABCD1 | c.494G>T (p.Arg165Leu) n.910G>T | gnomAD v4 |
| X | g.153725760_153725783delinsGTCTGGTGGCCCACGCCTACCGCC | CA2466451049 | ABCD1 | c.494_517delinsGTCTGGTGGCCCACGCCTACCGCC (p.Arg165=) n.910_933delinsGTCTGGTGGCCCACGCCTACCGCC | |
| X | g.153725761T>A | CA519345641 | ABCD1 | c.495T>A (p.Arg165=) n.911T>A | |
| X | g.153725761T>C | CA519345642 | ABCD1 | c.495T>C (p.Arg165=) n.911T>C | |
| X | g.153725761T>G | CA519345643 | ABCD1 | c.495T>G (p.Arg165=) n.911T>G | ClinVar dbSNP |
| X | g.153725761_153725780del | CA2695237406 | ABCD1 | c.495_514del (p.Leu166ProfsTer22) n.911_930del | |
| X | g.153725764_153725786del | CA278417 | ABCD1 | c.498_520del (p.Val167LeufsTer20) n.914_936del | ClinVar dbSNP |
| X | g.153725762C>A | CA415098975 | ABCD1 | c.496C>A (p.Leu166Met) n.912C>A | |
| X | g.153725762C>G | CA415098976 | ABCD1 | c.496C>G (p.Leu166Val) n.912C>G | |
| X | g.153725762C>T | CA519345644 | ABCD1 | c.496C>T (p.Leu166=) n.912C>T | |
| X | g.153725763T>A | CA415098977 | ABCD1 | c.497T>A (p.Leu166Gln) n.913T>A | |
| X | g.153725763T>C | CA415098978 | ABCD1 | c.497T>C (p.Leu166Pro) n.913T>C | ClinVar dbSNP |
| X | g.153725763T>G | CA415098979 | ABCD1 | c.497T>G (p.Leu166Arg) n.913T>G | |
| X | g.153725764G>A | CA519345647 | ABCD1 | c.498G>A (p.Leu166=) n.914G>A | ClinVar dbSNP gnomAD v2 |
| X | g.153725764G>C | CA519345646 | ABCD1 | c.498G>C (p.Leu166=) n.914G>C | |
| X | g.153725764G= | CA2466451051 | ABCD1 | c.498G= (p.Leu166=) n.914G= | |
| X | g.153725764G>T | CA10549964 | ABCD1 | c.498G>T (p.Leu166=) n.914G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153725765G>A | CA415098980 | ABCD1 | c.499G>A (p.Val167Met) n.915G>A | |
| X | g.153725765G>C | CA415098981 | ABCD1 | c.499G>C (p.Val167Leu) n.915G>C | ClinVar |
| X | g.153725765G>T | CA415098982 | ABCD1 | c.499G>T (p.Val167Leu) n.915G>T | |
| X | g.153725766T>A | CA415098985 | ABCD1 | c.500T>A (p.Val167Glu) n.916T>A | |
| X | g.153725766T>C | CA415098983 | ABCD1 | c.500T>C (p.Val167Ala) n.916T>C | |
| X | g.153725766T>G | CA415098984 | ABCD1 | c.500T>G (p.Val167Gly) n.916T>G | |
| X | g.153725767G>A | CA519345649 | ABCD1 | c.501G>A (p.Val167=) n.917G>A | |
| X | g.153725767G>C | CA519345651 | ABCD1 | c.501G>C (p.Val167=) n.917G>C | ClinVar dbSNP |
| X | g.153725767G>T | CA519345652 | ABCD1 | c.501G>T (p.Val167=) n.917G>T | |
| X | g.153725768G>A | CA415098986 | ABCD1 | c.502G>A (p.Ala168Thr) n.918G>A | COSMIC |
| X | g.153725768G>C | CA415098987 | ABCD1 | c.502G>C (p.Ala168Pro) n.918G>C | |
| X | g.153725768G>T | CA415098988 | ABCD1 | c.502G>T (p.Ala168Ser) n.918G>T | gnomAD v4 |
| X | g.153725769C>A | CA415098989 | ABCD1 | c.503C>A (p.Ala168Asp) n.919C>A | |
| X | g.153725769C= | CA2466451052 | ABCD1 | c.503C= (p.Ala168=) n.919C= | |
| X | g.153725769C>G | CA415098990 | ABCD1 | c.503C>G (p.Ala168Gly) n.919C>G | |
| X | g.153725769C>T | CA415098991 | ABCD1 | c.503C>T (p.Ala168Val) n.919C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.153725770C>A | CA519345653 | ABCD1 | c.504C>A (p.Ala168=) n.920C>A | |
| X | g.153725770C= | CA2466451053 | ABCD1 | c.504C= (p.Ala168=) n.920C= | |
| X | g.153725770C>G | CA10549965 | ABCD1 | c.504C>G (p.Ala168=) n.920C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153725770C>T | CA519345654 | ABCD1 | c.504C>T (p.Ala168=) n.920C>T | ClinVar |
| X | g.153725771C>A | CA415098992 | ABCD1 | c.505C>A (p.His169Asn) n.921C>A | |
| X | g.153725771C>G | CA415098993 | ABCD1 | c.505C>G (p.His169Asp) n.921C>G | |
| X | g.153725771C>T | CA415098994 | ABCD1 | c.505C>T (p.His169Tyr) n.921C>T | |
| X | g.153725772A>C | CA415098996 | ABCD1 | c.506A>C (p.His169Pro) n.922A>C | |
| X | g.153725772A>G | CA415098997 | ABCD1 | c.506A>G (p.His169Arg) n.922A>G | |
| X | g.153725772A>T | CA415098995 | ABCD1 | c.506A>T (p.His169Leu) n.922A>T | |
| X | g.153725773C>A | CA415098998 | ABCD1 | c.507C>A (p.His169Gln) n.923C>A | |
| X | g.153725773C= | CA2466451054 | ABCD1 | c.507C= (p.His169=) n.923C= | |
| X | g.153725773C>G | CA415098999 | ABCD1 | c.507C>G (p.His169Gln) n.923C>G | |
| X | g.153725773C>T | CA10549966 | ABCD1 | c.507C>T (p.His169=) n.923C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153725774G>A | CA10549967 | ABCD1 | c.508G>A (p.Ala170Thr) n.924G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153725774G>C | CA415099000 | ABCD1 | c.508G>C (p.Ala170Pro) n.924G>C | |
| X | g.153725774G= | CA2466451055 | ABCD1 | c.508G= (p.Ala170=) n.924G= | |
| X | g.153725774G>T | CA415099001 | ABCD1 | c.508G>T (p.Ala170Ser) n.924G>T | |
| X | g.153725775C>A | CA415099002 | ABCD1 | c.509C>A (p.Ala170Asp) n.925C>A | |
| X | g.153725775C>G | CA415099003 | ABCD1 | c.509C>G (p.Ala170Gly) n.925C>G | |
| X | g.153725775C>T | CA415099004 | ABCD1 | c.509C>T (p.Ala170Val) n.925C>T | ClinVar |
| X | g.153725776del | CA2695237413 | ABCD1 | c.510del (p.Tyr171ThrfsTer27) n.926del | |
| X | g.153725776C>A | CA519345659 | ABCD1 | c.510C>A (p.Ala170=) n.926C>A | |
| X | g.153725776C>G | CA519345660 | ABCD1 | c.510C>G (p.Ala170=) n.926C>G | |
| X | g.153725776C>T | CA519345661 | ABCD1 | c.510C>T (p.Ala170=) n.926C>T | |
| X | g.153725777T>A | CA415099005 | ABCD1 | c.511T>A (p.Tyr171Asn) n.927T>A | |
| X | g.153725777T>C | CA10549968 | ABCD1 | c.511T>C (p.Tyr171His) n.927T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153725777T>G | CA415099006 | ABCD1 | c.511T>G (p.Tyr171Asp) n.927T>G | |
| X | g.153725777T= | CA2466451056 | ABCD1 | c.511T= (p.Tyr171=) n.927T= | |
| X | g.153725778A>C | CA415099009 | ABCD1 | c.512A>C (p.Tyr171Ser) n.928A>C | dbSNP |
| X | g.153725778A>G | CA415099007 | ABCD1 | c.512A>G (p.Tyr171Cys) n.928A>G | |
| X | g.153725778A>T | CA415099008 | ABCD1 | c.512A>T (p.Tyr171Phe) n.928A>T | |
| X | g.153725779C>A | CA415099010 | ABCD1 | c.513C>A (p.Tyr171Ter) n.929C>A | |
| X | g.153725779C>G | CA415099011 | ABCD1 | c.513C>G (p.Tyr171Ter) n.929C>G | |
| X | g.153725779C>T | CA519345662 | ABCD1 | c.513C>T (p.Tyr171=) n.929C>T | ClinVar gnomAD v4 |
| X | g.153725780dup | CA2695237416 | ABCD1 | c.514dup (p.Arg172ProfsTer23) n.930dup | |
| X | g.153725780del | CA2695237415 | ABCD1 | c.514del (p.Arg172AlafsTer26) n.930del | |
| X | g.153725780C>A | CA415099012 | ABCD1 | c.514C>A (p.Arg172Ser) n.930C>A | |
| X | g.153725780C= | CA2466451057 | ABCD1 | c.514C= (p.Arg172=) n.930C= | |
| X | g.153725780C>G | CA415099013 | ABCD1 | c.514C>G (p.Arg172Gly) n.930C>G | |
| X | g.153725780C>T | CA10549969 | ABCD1 | c.514C>T (p.Arg172Cys) n.930C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153725781G>A | CA10549970 | ABCD1 | c.515G>A (p.Arg172His) n.931G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.153725781G>C | CA415099014 | ABCD1 | c.515G>C (p.Arg172Pro) n.931G>C | |
| X | g.153725781G= | CA2466451058 | ABCD1 | c.515G= (p.Arg172=) n.931G= | |
| X | g.153725781G>T | CA415099015 | ABCD1 | c.515G>T (p.Arg172Leu) n.931G>T | gnomAD v4 |
| X | g.153725782C>A | CA10549971 | ABCD1 | c.516C>A (p.Arg172=) n.932C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153725782C= | CA2466451059 | ABCD1 | c.516C= (p.Arg172=) n.932C= | |
| X | g.153725782C>G | CA519345663 | ABCD1 | c.516C>G (p.Arg172=) n.932C>G | |
| X | g.153725782C>T | CA519345664 | ABCD1 | c.516C>T (p.Arg172=) n.932C>T | |
| X | g.153725783C>A | CA415099016 | ABCD1 | c.517C>A (p.Leu173Ile) n.933C>A | gnomAD v4 |
| X | g.153725783C>G | CA415099017 | ABCD1 | c.517C>G (p.Leu173Val) n.933C>G | |
| X | g.153725783C>T | CA415099018 | ABCD1 | c.517C>T (p.Leu173Phe) n.933C>T | |
| X | g.153725784T>A | CA415099019 | ABCD1 | c.518T>A (p.Leu173His) n.934T>A | |
| X | g.153725784T>C | CA415099021 | ABCD1 | c.518T>C (p.Leu173Pro) n.934T>C | ClinVar dbSNP |
| X | g.153725784T>G | CA415099020 | ABCD1 | c.518T>G (p.Leu173Arg) n.934T>G | |
| X | g.153725785C>A | CA519345668 | ABCD1 | c.519C>A (p.Leu173=) n.935C>A | |
| X | g.153725785C= | CA2466451060 | ABCD1 | c.519C= (p.Leu173=) n.935C= | |
| X | g.153725785C>G | CA519345669 | ABCD1 | c.519C>G (p.Leu173=) n.935C>G | |
| X | g.153725785C>T | CA519345670 | ABCD1 | c.519C>T (p.Leu173=) n.935C>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153725786T>A | CA415099022 | ABCD1 | c.520T>A (p.Tyr174Asn) n.936T>A | |
| X | g.153725786T>C | CA415099023 | ABCD1 | c.520T>C (p.Tyr174His) n.936T>C | ClinVar |
| X | g.153725786T>G | CA278104 | ABCD1 | c.520T>G (p.Tyr174Asp) n.936T>G | ClinVar dbSNP |
| X | g.153725786T= | CA2466451061 | ABCD1 | c.520T= (p.Tyr174=) n.936T= | |
| X | g.153725787A= | CA2466451062 | ABCD1 | c.521A= (p.Tyr174=) n.937A= | |
| X | g.153725787A>C | CA415099024 | ABCD1 | c.521A>C (p.Tyr174Ser) n.937A>C | ClinVar dbSNP |
| X | g.153725787A>G | CA415099025 | ABCD1 | c.521A>G (p.Tyr174Cys) n.937A>G | ClinVar dbSNP |
| X | g.153725787A>T | CA415099026 | ABCD1 | c.521A>T (p.Tyr174Phe) n.937A>T | |
| X | g.153725787_153725790delinsACTT | CA2466451063 | ABCD1 | c.521_524delinsACTT (p.Tyr174=) n.937_940delinsACTT | |
| X | g.153725788C>A | CA415099027 | ABCD1 | c.522C>A (p.Tyr174Ter) n.938C>A | |
| X | g.153725788C>G | CA415099028 | ABCD1 | c.522C>G (p.Tyr174Ter) n.938C>G | ClinVar dbSNP |
| X | g.153725788C>T | CA519345672 | ABCD1 | c.522C>T (p.Tyr174=) n.938C>T | |
| X | g.153725790_153725792del | CA1139667826 | ABCD1 | c.524_526del (p.Phe175del) n.940_942del | ClinVar dbSNP |
| X | g.153725789T>A | CA415099029 | ABCD1 | c.523T>A (p.Phe175Ile) n.939T>A | |
| X | g.153725789T>C | CA415099030 | ABCD1 | c.523T>C (p.Phe175Leu) n.939T>C | |
| X | g.153725789T>G | CA415099031 | ABCD1 | c.523T>G (p.Phe175Val) n.939T>G | |
| X | g.153725790T>A | CA415099034 | ABCD1 | c.524T>A (p.Phe175Tyr) n.940T>A | ClinVar dbSNP |
| X | g.153725790T>C | CA415099032 | ABCD1 | c.524T>C (p.Phe175Ser) n.940T>C | |
| X | g.153725790T>G | CA415099033 | ABCD1 | c.524T>G (p.Phe175Cys) n.940T>G | |
| X | g.153725790T= | CA2466451064 | ABCD1 | c.524T= (p.Phe175=) n.940T= | |
| X | g.153725791C>A | CA415099035 | ABCD1 | c.525C>A (p.Phe175Leu) n.941C>A | |
| X | g.153725791C>G | CA415099036 | ABCD1 | c.525C>G (p.Phe175Leu) n.941C>G | |
| X | g.153725791C>T | CA519345674 | ABCD1 | c.525C>T (p.Phe175=) n.941C>T | |
| X | g.153725792T>A | CA415099037 | ABCD1 | c.526T>A (p.Ser176Thr) n.942T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153725792T>C | CA415099038 | ABCD1 | c.526T>C (p.Ser176Pro) n.942T>C | |
| X | g.153725792T>G | CA415099039 | ABCD1 | c.526T>G (p.Ser176Ala) n.942T>G | |
| X | g.153725792T= | CA2466451065 | ABCD1 | c.526T= (p.Ser176=) n.942T= | |
| X | g.153725793C>A | CA415099040 | ABCD1 | c.527C>A (p.Ser176Tyr) n.943C>A | |
| X | g.153725793C= | CA2466451066 | ABCD1 | c.527C= (p.Ser176=) n.943C= | |
| X | g.153725793C>G | CA415099041 | ABCD1 | c.527C>G (p.Ser176Cys) n.943C>G | dbSNP |
| X | g.153725793C>T | CA415099042 | ABCD1 | c.527C>T (p.Ser176Phe) n.943C>T | |
| X | g.153725794C>A | CA519345678 | ABCD1 | c.528C>A (p.Ser176=) n.944C>A | |
| X | g.153725794C= | CA2466451067 | ABCD1 | c.528C= (p.Ser176=) n.944C= | |
| X | g.153725794C>G | CA519345679 | ABCD1 | c.528C>G (p.Ser176=) n.944C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153725794C>T | CA519345680 | ABCD1 | c.528C>T (p.Ser176=) n.944C>T | |
| X | g.153725795C>A | CA415099043 | ABCD1 | c.529C>A (p.Gln177Lys) n.945C>A | |
| X | g.153725795C= | CA2466451068 | ABCD1 | c.529C= (p.Gln177=) n.945C= | |
| X | g.153725795C>G | CA415099044 | ABCD1 | c.529C>G (p.Gln177Glu) n.945C>G | |
| X | g.153725795C>T | CA10654775 | ABCD1 | c.529C>T (p.Gln177Ter) n.945C>T | ClinVar dbSNP |
| X | g.153725796A= | CA2466451069 | ABCD1 | c.530A= (p.Gln177=) n.946A= | |
| X | g.153725796A>C | CA415099046 | ABCD1 | c.530A>C (p.Gln177Pro) n.946A>C | |
| X | g.153725796A>G | CA415099047 | ABCD1 | c.530A>G (p.Gln177Arg) n.946A>G | |
| X | g.153725796A>T | CA415099045 | ABCD1 | c.530A>T (p.Gln177Leu) n.946A>T | ClinVar dbSNP |
| X | g.153725796_153725797del | CA2695237421 | ABCD1 | c.530_531del (p.Gln177ProfsTer17) n.946_947del | |
| X | g.153725797G>A | CA519345683 | ABCD1 | c.531G>A (p.Gln177=) n.947G>A | ClinVar gnomAD v4 |
| X | g.153725797G>C | CA415099049 | ABCD1 | c.531G>C (p.Gln177His) n.947G>C | |
| X | g.153725797G>T | CA415099048 | ABCD1 | c.531G>T (p.Gln177His) n.947G>T | |
| X | g.153725798C>A | CA415099050 | ABCD1 | c.532C>A (p.Gln178Lys) n.948C>A | |
| X | g.153725798C>G | CA415099051 | ABCD1 | c.532C>G (p.Gln178Glu) n.948C>G | |
| X | g.153725798C>T | CA415099052 | ABCD1 | c.532C>T (p.Gln178Ter) n.948C>T | |
| X | g.153725799A= | CA2466451070 | ABCD1 | c.533A= (p.Gln178=) n.949A= | |
| X | g.153725799A>C | CA415099053 | ABCD1 | c.533A>C (p.Gln178Pro) n.949A>C | ClinVar dbSNP |
| X | g.153725799A>G | CA415099054 | ABCD1 | c.533A>G (p.Gln178Arg) n.949A>G | dbSNP gnomAD v3 gnomAD v4 |
| X | g.153725799A>T | CA415099055 | ABCD1 | c.533A>T (p.Gln178Leu) n.949A>T | |
| X | g.153725800G>A | CA519345685 | ABCD1 | c.534G>A (p.Gln178=) n.950G>A | |
| X | g.153725800G>C | CA415099056 | ABCD1 | c.534G>C (p.Gln178His) n.950G>C | |
| X | g.153725800G>T | CA415099057 | ABCD1 | c.534G>T (p.Gln178His) n.950G>T | |
| X | g.153725801A= | CA2466451071 | ABCD1 | c.535A= (p.Thr179=) n.951A= | |
| X | g.153725801A>C | CA415099058 | ABCD1 | c.535A>C (p.Thr179Pro) n.951A>C | |
| X | g.153725801A>G | CA415099059 | ABCD1 | c.535A>G (p.Thr179Ala) n.951A>G | |
| X | g.153725801A>T | CA415099060 | ABCD1 | c.535A>T (p.Thr179Ser) n.951A>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153725802C>A | CA415099063 | ABCD1 | c.536C>A (p.Thr179Asn) n.952C>A | |
| X | g.153725802C>G | CA415099062 | ABCD1 | c.536C>G (p.Thr179Ser) n.952C>G | |
| X | g.153725802C>T | CA415099061 | ABCD1 | c.536C>T (p.Thr179Ile) n.952C>T | |
| X | g.153725803_153725810dup | CA658659057 | ABCD1 | c.537_544dup (p.Arg182ProfsTer19) n.953_960dup | ClinVar dbSNP |
| X | g.153725803C>A | CA519345689 | ABCD1 | c.537C>A (p.Thr179=) n.953C>A | |
| X | g.153725803C= | CA2466451072 | ABCD1 | c.537C= (p.Thr179=) n.953C= | |
| X | g.153725803C>G | CA519345690 | ABCD1 | c.537C>G (p.Thr179=) n.953C>G | gnomAD v4 |
| X | g.153725803C>T | CA10549972 | ABCD1 | c.537C>T (p.Thr179=) n.953C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |