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.25004798_25004839delinsCCGGGTCGGCCAGGGCGCCCGATGCCACTGCGCCCTCCACGG | CA2420205933 | ARX | c.1520_1561delinsCCGTGGAGGGCGCAGTGGCATCGGGCGCCCTGGCCGACCCGG (p.Ala507=) | |
X | g.25004804_25004844del | CA891843837 | ARX | c.1520_1560del (p.Ala507GlyfsTer11) | ClinVar dbSNP |
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 |
X | g.25004805G>C | CA515748078 | ARX | c.1554C>G (p.Ala518=) | |
X | g.25004805G= | CA2420205941 | ARX | c.1554C= (p.Ala518=) | |
X | g.25004805G>T | CA515748079 | ARX | c.1554C>A (p.Ala518=) | gnomAD v4 |
X | g.25004806G>A | CA412610772 | ARX | c.1553C>T (p.Ala518Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25004806G>C | CA412610773 | ARX | c.1553C>G (p.Ala518Gly) | |
X | g.25004806G= | CA2420205942 | ARX | c.1553C= (p.Ala518=) | |
X | g.25004806G>T | CA412610774 | ARX | c.1553C>A (p.Ala518Asp) | gnomAD v4 |
X | g.25004807C>A | CA412610775 | ARX | c.1552G>T (p.Ala518Ser) | gnomAD v4 |
X | g.25004807C>G | CA412610776 | ARX | c.1552G>C (p.Ala518Pro) | |
X | g.25004807C>T | CA412610777 | ARX | c.1552G>A (p.Ala518Thr) | gnomAD v4 |
X | g.25004808del | CA2580100515 | ARX | c.1552del (p.Ala518ProfsTer15) | ClinVar |
X | g.25004808C>A | CA515748081 | ARX | c.1551G>T (p.Leu517=) | gnomAD v4 |
X | g.25004808C= | CA2420205943 | ARX | c.1551G= (p.Leu517=) | |
X | g.25004808C>G | CA10373769 | ARX | c.1551G>C (p.Leu517=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25004808C>T | CA515748080 | ARX | c.1551G>A (p.Leu517=) | gnomAD v4 |
X | g.25004809del | CA2820109497 | ARX | c.1550del (p.Leu517ArgfsTer16) | |
X | g.25004809A>C | CA412610778 | ARX | c.1550T>G (p.Leu517Arg) | |
X | g.25004809A>G | CA412610779 | ARX | c.1550T>C (p.Leu517Pro) | |
X | g.25004809A>T | CA412610780 | ARX | c.1550T>A (p.Leu517Gln) | |
X | g.25004809_25004824delinsAGGGCGCCCGATGCCA | CA2420205944 | ARX | c.1535_1550delinsTGGCATCGGGCGCCCT (p.Val512=) | |
X | g.25004810G>A | CA515748082 | ARX | c.1549C>T (p.Leu517=) | gnomAD v4 |
X | g.25004810G>C | CA412610781 | ARX | c.1549C>G (p.Leu517Val) | |
X | g.25004810G>T | CA412610782 | ARX | c.1549C>A (p.Leu517Met) | gnomAD v4 |
X | g.25004810_25004824delinsCTGCGCC | CA645373294 | ARX | c.1535_1549delinsGGCGCAG (p.Val512GlyfsTer17) | ClinVar dbSNP |
X | g.25004811G>A | CA515748083 | ARX | c.1548C>T (p.Ala516=) | gnomAD v4 |
X | g.25004811G>C | CA515748085 | ARX | c.1548C>G (p.Ala516=) | |
X | g.25004811G>T | CA515748084 | ARX | c.1548C>A (p.Ala516=) |