| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.153725500_153725831del | CA2580101691 | ABCD1 | c.234_565del (p.Leu79AlafsTer5) n.650_981del | ClinVar |
| X | g.153725689_153725697dup | CA2695237380 | ABCD1 | c.423_431dup (p.Ala144_Thr145insLeuProAla) n.839_847dup | |
| X | g.153725695T>A | CA519345555 | ABCD1 | c.429T>A (p.Pro143=) n.845T>A | |
| X | g.153725695T>C | CA519345556 | ABCD1 | c.429T>C (p.Pro143=) n.845T>C | |
| X | g.153725695T>G | CA519345557 | ABCD1 | c.429T>G (p.Pro143=) n.845T>G | |
| X | g.153725696G>A | CA415098838 | ABCD1 | c.430G>A (p.Ala144Thr) n.846G>A | ClinVar |
| X | g.153725696G>C | CA415098839 | ABCD1 | c.430G>C (p.Ala144Pro) n.846G>C | |
| X | g.153725696G>T | CA415098840 | ABCD1 | c.430G>T (p.Ala144Ser) n.846G>T | |
| X | g.153725697C>A | CA415098841 | ABCD1 | c.431C>A (p.Ala144Asp) n.847C>A | |
| X | g.153725697C>G | CA415098842 | ABCD1 | c.431C>G (p.Ala144Gly) n.847C>G | |
| X | g.153725697C>T | CA415098843 | ABCD1 | c.431C>T (p.Ala144Val) n.847C>T | ClinVar |
| X | g.153725698T>A | CA519345560 | ABCD1 | c.432T>A (p.Ala144=) n.848T>A | |
| X | g.153725698T>C | CA519345561 | ABCD1 | c.432T>C (p.Ala144=) n.848T>C | |
| X | g.153725698T>G | CA519345562 | ABCD1 | c.432T>G (p.Ala144=) n.848T>G | |
| X | g.153725698_153725712delinsCCC | CA2695237387 | ABCD1 | c.432_446delinsCCC (p.Thr145_Ser149delinsPro) n.848_862delinsCCC | |
| X | g.153725699A= | CA2466451023 | ABCD1 | c.433A= (p.Thr145=) n.849A= | |
| X | g.153725699A>C | CA415098844 | ABCD1 | c.433A>C (p.Thr145Pro) n.849A>C | |
| X | g.153725699A>G | CA415098845 | ABCD1 | c.433A>G (p.Thr145Ala) n.849A>G | ClinVar dbSNP |
| X | g.153725699A>T | CA415098846 | ABCD1 | c.433A>T (p.Thr145Ser) n.849A>T | |
| X | g.153725700C>A | CA415098847 | ABCD1 | c.434C>A (p.Thr145Asn) n.850C>A | |
| X | g.153725700C>G | CA415098848 | ABCD1 | c.434C>G (p.Thr145Ser) n.850C>G | |
| X | g.153725700C>T | CA415098849 | ABCD1 | c.434C>T (p.Thr145Ile) n.850C>T | |
| X | g.153725701C>A | CA519345566 | ABCD1 | c.435C>A (p.Thr145=) n.851C>A | |
| X | g.153725701C= | CA2466451024 | ABCD1 | c.435C= (p.Thr145=) n.851C= | |
| X | g.153725701C>G | CA10549954 | ABCD1 | c.435C>G (p.Thr145=) n.851C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153725701C>T | CA519345565 | ABCD1 | c.435C>T (p.Thr145=) n.851C>T | |
| X | g.153725702T>A | CA10549955 | ABCD1 | c.436T>A (p.Phe146Ile) n.852T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153725702T>C | CA415098850 | ABCD1 | c.436T>C (p.Phe146Leu) n.852T>C | |
| X | g.153725702T>G | CA10549956 | ABCD1 | c.436T>G (p.Phe146Val) n.852T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153725702T= | CA2466451025 | ABCD1 | c.436T= (p.Phe146=) n.852T= | |
| 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 |