| 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.25004792_25004796dup | CA2695233367 | ARX | c.1564_1568dup (p.Ala524ArgfsTer11) | |
| X | g.25004794G>A | CA412610748 | ARX | c.1565C>T (p.Thr522Met) | gnomAD v4 |
| X | g.25004794G>C | CA412610750 | ARX | c.1565C>G (p.Thr522Arg) | |
| X | g.25004794G>T | CA412610749 | ARX | c.1565C>A (p.Thr522Lys) | gnomAD v4 |
| X | g.25004795T>A | CA412610751 | ARX | c.1564A>T (p.Thr522Ser) | |
| X | g.25004795T>C | CA412610752 | ARX | c.1564A>G (p.Thr522Ala) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25004795T>G | CA412610753 | ARX | c.1564A>C (p.Thr522Pro) | |
| X | g.25004795T= | CA2420205931 | ARX | c.1564A= (p.Thr522=) | |
| X | g.25004796G>A | CA10373767 | ARX | c.1563C>T (p.Ala521=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25004796G>C | CA515748071 | ARX | c.1563C>G (p.Ala521=) | |
| X | g.25004796G= | CA2420205932 | ARX | c.1563C= (p.Ala521=) | |
| X | g.25004796G>T | CA515748072 | ARX | c.1563C>A (p.Ala521=) | gnomAD v4 |
| X | g.25004797G>A | CA412610754 | ARX | c.1562C>T (p.Ala521Val) | gnomAD v4 |
| X | g.25004797G>C | CA412610756 | ARX | c.1562C>G (p.Ala521Gly) | |
| X | g.25004797G>T | CA412610755 | ARX | c.1562C>A (p.Ala521Asp) | |
| X | g.25004798C>A | CA412610757 | ARX | c.1561G>T (p.Ala521Ser) | gnomAD v4 |
| X | g.25004798C= | CA2420205934 | ARX | c.1561G= (p.Ala521=) | |
| X | g.25004798C>G | CA412610758 | ARX | c.1561G>C (p.Ala521Pro) | gnomAD v4 |
| X | g.25004798C>T | CA206413 | ARX | c.1561G>A (p.Ala521Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25004798_25004839delinsCCGGGTCGGCCAGGGCGCCCGATGCCACTGCGCCCTCCACGG | CA2420205933 | ARX | c.1520_1561delinsCCGTGGAGGGCGCAGTGGCATCGGGCGCCCTGGCCGACCCGG (p.Ala507=) | |
| X | g.25004799C>A | CA515748073 | ARX | c.1560G>T (p.Pro520=) | gnomAD v4 |
| X | g.25004799C= | CA2420205935 | ARX | c.1560G= (p.Pro520=) | |
| X | g.25004799C>G | CA515748074 | ARX | c.1560G>C (p.Pro520=) | |
| X | g.25004799C>T | CA515748075 | ARX | c.1560G>A (p.Pro520=) | dbSNP gnomAD v2 |
| X | g.25004804_25004844del | CA891843837 | ARX | c.1520_1560del (p.Ala507GlyfsTer11) | ClinVar dbSNP |
| X | g.25004800G>A | CA412610759 | ARX | c.1559C>T (p.Pro520Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25004800G>C | CA412610761 | ARX | c.1559C>G (p.Pro520Arg) | |
| X | g.25004800G= | CA2420205936 | ARX | c.1559C= (p.Pro520=) | |
| X | g.25004800G>T | CA412610760 | ARX | c.1559C>A (p.Pro520Gln) | gnomAD v4 |
| X | g.25004802del | CA2740092063 | ARX | c.1559del (p.Pro520ArgfsTer13) | ClinVar |
| X | g.25004801G>A | CA412610762 | ARX | c.1558C>T (p.Pro520Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25004801G>C | CA412610764 | ARX | c.1558C>G (p.Pro520Ala) | |
| X | g.25004801G= | CA2420205937 | ARX | c.1558C= (p.Pro520=) | |
| X | g.25004801G>T | CA412610763 | ARX | c.1558C>A (p.Pro520Thr) | gnomAD v4 |
| X | g.25004802G>A | CA515748076 | ARX | c.1557C>T (p.Asp519=) | |
| X | g.25004802G>C | CA10373768 | ARX | c.1557C>G (p.Asp519Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25004802G= | CA2420205938 | ARX | c.1557C= (p.Asp519=) | |
| X | g.25004802G>T | CA412610765 | ARX | c.1557C>A (p.Asp519Glu) | |
| X | g.25004803T>A | CA412610766 | ARX | c.1556A>T (p.Asp519Val) | |
| X | g.25004803T>C | CA412610767 | ARX | c.1556A>G (p.Asp519Gly) | gnomAD v4 |
| X | g.25004803T>G | CA412610768 | ARX | c.1556A>C (p.Asp519Ala) | ClinVar |
| X | g.25004803T= | CA2420205939 | ARX | c.1556A= (p.Asp519=) | |
| X | g.25004804C>A | CA412610769 | ARX | c.1555G>T (p.Asp519Tyr) | gnomAD v4 |
| X | g.25004804C= | CA2420205940 | ARX | c.1555G= (p.Asp519=) | |
| X | g.25004804C>G | CA412610770 | ARX | c.1555G>C (p.Asp519His) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25004804C>T | CA412610771 | ARX | c.1555G>A (p.Asp519Asn) | gnomAD v4 |
| X | g.25004804_25004805insCC | CA915950801 | ARX | c.1555_1556insGG (p.Asp519GlyfsTer15) | ClinVar dbSNP |
| X | g.25004805G>A | CA515748077 | ARX | c.1554C>T (p.Ala518=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |