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.25004787G>A | CA515748053 | ARX | c.1572C>T (p.Ala524=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
X | g.25004787G>C | CA515748056 | ARX | c.1572C>G (p.Ala524=) | |
X | g.25004787G= | CA2420205927 | ARX | c.1572C= (p.Ala524=) | |
X | g.25004787G>T | CA515748054 | ARX | c.1572C>A (p.Ala524=) | |
X | g.25004788G>A | CA412610736 | ARX | c.1571C>T (p.Ala524Val) | |
X | g.25004788G>C | CA412610737 | ARX | c.1571C>G (p.Ala524Gly) | |
X | g.25004788G>T | CA412610738 | ARX | c.1571C>A (p.Ala524Asp) | gnomAD v4 |
X | g.25004789C>A | CA412610740 | ARX | c.1570G>T (p.Ala524Ser) | gnomAD v4 |
X | g.25004789C>G | CA412610741 | ARX | c.1570G>C (p.Ala524Pro) | |
X | g.25004789C>T | CA412610739 | ARX | c.1570G>A (p.Ala524Thr) | |
X | g.25004790C>A | CA515748067 | ARX | c.1569G>T (p.Ala523=) | gnomAD v4 |
X | g.25004790C= | CA2420205928 | ARX | c.1569G= (p.Ala523=) | |
X | g.25004790C>G | CA515748065 | ARX | c.1569G>C (p.Ala523=) | ClinVar dbSNP |
X | g.25004790C>T | CA515748063 | ARX | c.1569G>A (p.Ala523=) | ClinVar |
X | g.25004791G>A | CA412610742 | ARX | c.1568C>T (p.Ala523Val) | ClinVar dbSNP gnomAD v4 |
X | g.25004791G>C | CA412610743 | ARX | c.1568C>G (p.Ala523Gly) | |
X | g.25004791G= | CA2420205929 | ARX | c.1568C= (p.Ala523=) | |
X | g.25004791G>T | CA412610744 | ARX | c.1568C>A (p.Ala523Glu) | gnomAD v4 |
X | g.25004792_25004796dup | CA2695233367 | ARX | c.1564_1568dup (p.Ala524ArgfsTer11) | |
X | g.25004792C>A | CA412610745 | ARX | c.1567G>T (p.Ala523Ser) | gnomAD v4 |
X | g.25004792C>G | CA412610746 | ARX | c.1567G>C (p.Ala523Pro) | gnomAD v4 |
X | g.25004792C>T | CA412610747 | ARX | c.1567G>A (p.Ala523Thr) | gnomAD v4 |
X | g.25004793C>A | CA515748068 | ARX | c.1566G>T (p.Thr522=) | gnomAD v4 |
X | g.25004793C= | CA2420205930 | ARX | c.1566G= (p.Thr522=) | |
X | g.25004793C>G | CA515748070 | ARX | c.1566G>C (p.Thr522=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25004793C>T | CA515748069 | ARX | c.1566G>A (p.Thr522=) | dbSNP gnomAD v3 gnomAD v4 |
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=) |