| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.25004210_25005726del | CA2573158583 | ARX | c.1449-816_*460del | ClinVar |
| X | g.25004643_25004667del | CA2693352411 | ARX | c.*5_*29del (n.*5_*29del) | gnomAD v4 |
| X | g.25004661G>T | CA2540139047 | ARX | c.*9C>A (n.*9C>A) | gnomAD v4 |
| X | g.25004662G>C | CA2579637216 | ARX | c.*8C>G (n.*8C>G) | |
| X | g.25004662_25004663insCGCGCGCGGGGC | CA2579637217 | ARX | c.*7_*8insGCCCCGCGCGCG (n.*7_*8insGCCCCGCGCGCG) | gnomAD v4 |
| X | g.25004663G>A | CA2693352421 | ARX | c.*7C>T (n.*7C>T) | gnomAD v4 |
| X | g.25004663G>T | CA2693352422 | ARX | c.*7C>A (n.*7C>A) | gnomAD v4 |
| X | g.25004664C>A | CA2579637218 | ARX | c.*6G>T (n.*6G>T) | |
| X | g.25004664C= | CA2420205881 | ARX | c.*6G= (n.*6G=) | |
| X | g.25004664C>T | CA641364655 | ARX | c.*6G>A (n.*6G>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25004665A= | CA2420205882 | ARX | c.*5T= (n.*5T=) | |
| X | g.25004665A>C | CA641364656 | ARX | c.*5T>G (n.*5T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25004666G>C | CA874141499 | ARX | c.*4C>G (n.*4C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.25004666G= | CA2420205883 | ARX | c.*4C= (n.*4C=) | |
| X | g.25004667C>A | CA641364657 | ARX | c.*3G>T (n.*3G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25004667C= | CA2420205884 | ARX | c.*3G= (n.*3G=) | |
| X | g.25004668C= | CA2420205885 | ARX | c.*2G= (n.*2G=) | |
| X | g.25004668C>G | CA16609169 | ARX | c.*2G>C (n.*2G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25004669T>C | CA2693352423 | ARX | c.*1A>G (n.*1A>G) | gnomAD v4 |
| X | g.25004670T>A | CA412610481 | ARX | c.1689A>T (p.Ter563Tyr) | |
| X | g.25004670T>C | CA515747723 | ARX | c.1689A>G (p.Ter563=) | |
| X | g.25004670T>G | CA412610480 | ARX | c.1689A>C (p.Ter563Tyr) | |
| X | g.25004671T>A | CA412610482 | ARX | c.1688A>T (p.Ter563Leu) | |
| X | g.25004671T>C | CA515747726 | ARX | c.1688A>G (p.Ter563=) | |
| X | g.25004671T>G | CA412610483 | ARX | c.1688A>C (p.Ter563Ser) | |
| X | g.25004672A>C | CA412610484 | ARX | c.1687T>G (p.Ter563Glu) | |
| X | g.25004672A>G | CA412610485 | ARX | c.1687T>C (p.Ter563Gln) | |
| X | g.25004672A>T | CA412610486 | ARX | c.1687T>A (p.Ter563Lys) | |
| X | g.25004673G>A | CA515747731 | ARX | c.1686C>T (p.Cys562=) | |
| X | g.25004673G>C | CA412610487 | ARX | c.1686C>G (p.Cys562Trp) | |
| X | g.25004673G>T | CA412610488 | ARX | c.1686C>A (p.Cys562Ter) | |
| X | g.25004674C>A | CA412610489 | ARX | c.1685G>T (p.Cys562Phe) | |
| X | g.25004674C>G | CA412610490 | ARX | c.1685G>C (p.Cys562Ser) | |
| X | g.25004674C>T | CA412610491 | ARX | c.1685G>A (p.Cys562Tyr) | |
| X | g.25004675A= | CA2420205886 | ARX | c.1684T= (p.Cys562=) | |
| X | g.25004675A>C | CA412610492 | ARX | c.1684T>G (p.Cys562Gly) | |
| X | g.25004675A>G | CA412610493 | ARX | c.1684T>C (p.Cys562Arg) | ClinVar dbSNP |
| X | g.25004675A>T | CA412610494 | ARX | c.1684T>A (p.Cys562Ser) | |
| X | g.25004676C>A | CA515747736 | ARX | c.1683G>T (p.Val561=) | |
| X | g.25004676C>G | CA515747737 | ARX | c.1683G>C (p.Val561=) | |
| X | g.25004676C>T | CA515747738 | ARX | c.1683G>A (p.Val561=) | |
| X | g.25004677A>C | CA412610496 | ARX | c.1682T>G (p.Val561Gly) | |
| X | g.25004677A>G | CA412610497 | ARX | c.1682T>C (p.Val561Ala) | |
| X | g.25004677A>T | CA412610495 | ARX | c.1682T>A (p.Val561Glu) | COSMIC |
| X | g.25004677dup | CA913187412 | ARX | c.1682dup (p.Cys562ValfsTer?) | |
| X | g.25004678C>A | CA412610498 | ARX | c.1681G>T (p.Val561Leu) | gnomAD v4 |
| X | g.25004678C>G | CA412610499 | ARX | c.1681G>C (p.Val561Leu) | |
| X | g.25004678C>T | CA412610500 | ARX | c.1681G>A (p.Val561Met) | gnomAD v4 |
| X | g.25004679C>A | CA412610501 | ARX | c.1680G>T (p.Glu560Asp) | COSMIC |
| X | g.25004679C= | CA2420205887 | ARX | c.1680G= (p.Glu560=) |