| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.153725500_153725831del | CA2580101691 | ABCD1 | c.234_565del (p.Leu79AlafsTer5) n.650_981del | ClinVar |
| 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 |
| X | g.153725804T>A | CA415099064 | ABCD1 | c.538T>A (p.Tyr180Asn) n.954T>A | |
| X | g.153725804T>C | CA10549973 | ABCD1 | c.538T>C (p.Tyr180His) n.954T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153725804T>G | CA415099065 | ABCD1 | c.538T>G (p.Tyr180Asp) n.954T>G | |
| X | g.153725804T= | CA2466451073 | ABCD1 | c.538T= (p.Tyr180=) n.954T= | |
| X | g.153725805A= | CA2466451074 | ABCD1 | c.539A= (p.Tyr180=) n.955A= | |
| X | g.153725805A>C | CA415099066 | ABCD1 | c.539A>C (p.Tyr180Ser) n.955A>C | ClinVar gnomAD v4 |
| X | g.153725805A>G | CA415099067 | ABCD1 | c.539A>G (p.Tyr180Cys) n.955A>G | ClinVar dbSNP |
| X | g.153725805A>T | CA415099068 | ABCD1 | c.539A>T (p.Tyr180Phe) n.955A>T | |
| X | g.153725806C>A | CA415099069 | ABCD1 | c.540C>A (p.Tyr180Ter) n.956C>A | |
| X | g.153725806C>G | CA415099070 | ABCD1 | c.540C>G (p.Tyr180Ter) n.956C>G | |
| X | g.153725806C>T | CA519345692 | ABCD1 | c.540C>T (p.Tyr180=) n.956C>T | |
| X | g.153725807T>A | CA415099071 | ABCD1 | c.541T>A (p.Tyr181Asn) n.957T>A | |
| X | g.153725807T>C | CA415099072 | ABCD1 | c.541T>C (p.Tyr181His) n.957T>C | |
| X | g.153725807T>G | CA415099073 | ABCD1 | c.541T>G (p.Tyr181Asp) n.957T>G | |
| X | g.153725807dup | CA2695237424 | ABCD1 | c.541dup (p.Tyr181LeufsTer14) n.957dup |