| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.25004210_25005726del | CA2573158583 | ARX | c.1449-816_*460del | ClinVar |
| X | g.25004734_25004841del | CA2558513964 | ARX | c.1521_1628del (p.Val508_Ala543del) | |
| X | g.25004738_25004766delinsCCTTGGCCTTGAGCCTCAGCGCGGCTATG | CA2420205904 | ARX | c.1593_1621delinsCATAGCCGCGCTGAGGCTCAAGGCCAAGG (p.Ser531=) | |
| X | g.25004741_25004768del | CA915950800 | ARX | c.1593_1620del (p.Ser531ArgfsTer?) | ClinVar dbSNP |
| X | g.25004760G>A | CA515747968 | ARX | c.1599C>T (p.Ala533=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25004760G>C | CA515747969 | ARX | c.1599C>G (p.Ala533=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25004760G= | CA2420205917 | ARX | c.1599C= (p.Ala533=) | |
| X | g.25004760G>T | CA16608403 | ARX | c.1599C>A (p.Ala533=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25004760_25004766dup | CA16043267 | ARX | c.1593_1599dup (p.Ala534HisfsTer?) | ClinVar dbSNP |
| X | g.25004761G>A | CA412610677 | ARX | c.1598C>T (p.Ala533Val) | gnomAD v4 |
| X | g.25004761G>C | CA412610678 | ARX | c.1598C>G (p.Ala533Gly) | |
| X | g.25004761G>T | CA412610679 | ARX | c.1598C>A (p.Ala533Asp) | |
| X | g.25004762C>A | CA412610680 | ARX | c.1597G>T (p.Ala533Ser) | gnomAD v4 |
| X | g.25004762C= | CA2420205918 | ARX | c.1597G= (p.Ala533=) | |
| X | g.25004762C>G | CA412610681 | ARX | c.1597G>C (p.Ala533Pro) | |
| X | g.25004762C>T | CA16608404 | ARX | c.1597G>A (p.Ala533Thr) | ClinVar dbSNP |
| X | g.25004763T>A | CA515747976 | ARX | c.1596A>T (p.Ile532=) | gnomAD v4 |
| X | g.25004763T>C | CA412610682 | ARX | c.1596A>G (p.Ile532Met) | |
| X | g.25004763T>G | CA515747978 | ARX | c.1596A>C (p.Ile532=) | |
| X | g.25004764A>C | CA412610683 | ARX | c.1595T>G (p.Ile532Arg) | |
| X | g.25004764A>G | CA412610684 | ARX | c.1595T>C (p.Ile532Thr) | |
| X | g.25004764A>T | CA412610685 | ARX | c.1595T>A (p.Ile532Lys) | |
| X | g.25004765T>A | CA412610686 | ARX | c.1594A>T (p.Ile532Leu) | |
| X | g.25004765T>C | CA412610687 | ARX | c.1594A>G (p.Ile532Val) | |
| X | g.25004765T>G | CA412610688 | ARX | c.1594A>C (p.Ile532Leu) | |
| X | g.25004766G>A | CA515747985 | ARX | c.1593C>T (p.Ser531=) | gnomAD v4 |
| X | g.25004766G>C | CA412610689 | ARX | c.1593C>G (p.Ser531Arg) | gnomAD v4 |
| X | g.25004766G>T | CA412610690 | ARX | c.1593C>A (p.Ser531Arg) | gnomAD v4 |
| X | g.25004767C>A | CA412610691 | ARX | c.1592G>T (p.Ser531Ile) | gnomAD v4 |
| X | g.25004767C= | CA2420205919 | ARX | c.1592G= (p.Ser531=) | |
| X | g.25004767C>G | CA412610692 | ARX | c.1592G>C (p.Ser531Thr) | |
| X | g.25004767C>T | CA412610693 | ARX | c.1592G>A (p.Ser531Asn) | dbSNP gnomAD v2 |
| X | g.25004768T>A | CA412610694 | ARX | c.1591A>T (p.Ser531Cys) | gnomAD v4 |
| X | g.25004768T>C | CA412610696 | ARX | c.1591A>G (p.Ser531Gly) | |
| X | g.25004768T>G | CA412610695 | ARX | c.1591A>C (p.Ser531Arg) | |
| X | g.25004769del | CA2693352424 | ARX | c.1590del (p.Ser531AlafsTer2) | gnomAD v4 |
| X | g.25004769A= | CA2420205920 | ARX | c.1590T= (p.Ser530=) | |
| X | g.25004769A>C | CA515747996 | ARX | c.1590T>G (p.Ser530=) | |
| X | g.25004769A>G | CA515747993 | ARX | c.1590T>C (p.Ser530=) | |
| X | g.25004769A>T | CA515747994 | ARX | c.1590T>A (p.Ser530=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25004770G>A | CA412610697 | ARX | c.1589C>T (p.Ser530Phe) | |
| X | g.25004770G>C | CA412610699 | ARX | c.1589C>G (p.Ser530Cys) | ClinVar dbSNP |
| X | g.25004770G= | CA2420205921 | ARX | c.1589C= (p.Ser530=) | |
| X | g.25004770G>T | CA412610698 | ARX | c.1589C>A (p.Ser530Tyr) | |
| X | g.25004771A>C | CA412610700 | ARX | c.1588T>G (p.Ser530Ala) | |
| X | g.25004771A>G | CA412610701 | ARX | c.1588T>C (p.Ser530Pro) | |
| X | g.25004771A>T | CA412610702 | ARX | c.1588T>A (p.Ser530Thr) | |
| X | g.25004772G>A | CA515748003 | ARX | c.1587C>T (p.Ala529=) | ClinVar dbSNP |
| X | g.25004772G>C | CA515748007 | ARX | c.1587C>G (p.Ala529=) | ClinVar |
| X | g.25004772G= | CA2420205922 | ARX | c.1587C= (p.Ala529=) |