| 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.25004747T>A | CA412610652 | ARX | c.1612A>T (p.Lys538Ter) | |
| X | g.25004747T>C | CA16621348 | ARX | c.1612A>G (p.Lys538Glu) | ClinVar dbSNP gnomAD v4 |
| X | g.25004747T>G | CA412610653 | ARX | c.1612A>C (p.Lys538Gln) | |
| X | g.25004747T= | CA2420205908 | ARX | c.1612A= (p.Lys538=) | |
| X | g.25004748G>A | CA515747930 | ARX | c.1611C>T (p.Leu537=) | |
| X | g.25004748G>C | CA515747932 | ARX | c.1611C>G (p.Leu537=) | ClinVar gnomAD v4 |
| X | g.25004748G>T | CA515747934 | ARX | c.1611C>A (p.Leu537=) | |
| X | g.25004749A= | CA2420205909 | ARX | c.1610T= (p.Leu537=) | |
| X | g.25004749A>C | CA412610654 | ARX | c.1610T>G (p.Leu537Arg) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25004749A>G | CA412610655 | ARX | c.1610T>C (p.Leu537Pro) | ClinVar gnomAD v4 |
| X | g.25004749A>T | CA412610656 | ARX | c.1610T>A (p.Leu537His) | |
| X | g.25004750G>A | CA412610657 | ARX | c.1609C>T (p.Leu537Phe) | |
| X | g.25004750G>C | CA412610658 | ARX | c.1609C>G (p.Leu537Val) | |
| X | g.25004750G>T | CA412610659 | ARX | c.1609C>A (p.Leu537Ile) | gnomAD v4 |
| X | g.25004751C>A | CA412610660 | ARX | c.1608G>T (p.Arg536Ser) | gnomAD v4 |
| X | g.25004751C= | CA2420205910 | ARX | c.1608G= (p.Arg536=) | |
| X | g.25004751C>G | CA412610661 | ARX | c.1608G>C (p.Arg536Ser) | gnomAD v4 |
| X | g.25004751C>T | CA515747940 | ARX | c.1608G>A (p.Arg536=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25004752C>A | CA412610662 | ARX | c.1607G>T (p.Arg536Met) | gnomAD v4 |
| X | g.25004752C= | CA2420205911 | ARX | c.1607G= (p.Arg536=) | |
| X | g.25004752C>G | CA412610663 | ARX | c.1607G>C (p.Arg536Thr) | ClinVar dbSNP |
| X | g.25004752C>T | CA412610664 | ARX | c.1607G>A (p.Arg536Lys) | |
| X | g.25004753T>A | CA412610666 | ARX | c.1606A>T (p.Arg536Trp) | gnomAD v4 |
| X | g.25004753T>C | CA412610665 | ARX | c.1606A>G (p.Arg536Gly) | gnomAD v4 |
| X | g.25004753T>G | CA515747946 | ARX | c.1606A>C (p.Arg536=) | |
| X | g.25004754C>A | CA515747948 | ARX | c.1605G>T (p.Leu535=) | gnomAD v4 |
| X | g.25004754C= | CA2420205912 | ARX | c.1605G= (p.Leu535=) | |
| X | g.25004754C>G | CA515747949 | ARX | c.1605G>C (p.Leu535=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25004754C>T | CA515747951 | ARX | c.1605G>A (p.Leu535=) | |
| X | g.25004755A= | CA2420205913 | ARX | c.1604T= (p.Leu535=) | |
| X | g.25004755A>C | CA412610667 | ARX | c.1604T>G (p.Leu535Arg) | |
| X | g.25004755A>G | CA412610668 | ARX | c.1604T>C (p.Leu535Pro) | ClinVar gnomAD v4 |
| X | g.25004755A>T | CA128802 | ARX | c.1604T>A (p.Leu535Gln) | ClinVar dbSNP |
| X | g.25004755dup | CA2695233366 | ARX | c.1604dup (p.Arg536GlufsTer?) | |
| X | g.25004756G>A | CA515747956 | ARX | c.1603C>T (p.Leu535=) | |
| X | g.25004756G>C | CA412610669 | ARX | c.1603C>G (p.Leu535Val) | |
| X | g.25004756G>T | CA412610670 | ARX | c.1603C>A (p.Leu535Met) | |
| X | g.25004757C>A | CA515747957 | ARX | c.1602G>T (p.Ala534=) | gnomAD v4 |
| X | g.25004757C= | CA2420205914 | ARX | c.1602G= (p.Ala534=) | |
| X | g.25004757C>G | CA515747959 | ARX | c.1602G>C (p.Ala534=) | ClinVar |
| X | g.25004757C>T | CA515747961 | ARX | c.1602G>A (p.Ala534=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25004758G>A | CA412610671 | ARX | c.1601C>T (p.Ala534Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.25004758G>C | CA412610672 | ARX | c.1601C>G (p.Ala534Gly) | gnomAD v4 |
| X | g.25004758G= | CA2420205915 | ARX | c.1601C= (p.Ala534=) | |
| X | g.25004758G>T | CA412610673 | ARX | c.1601C>A (p.Ala534Glu) | gnomAD v4 |
| X | g.25004759C>A | CA412610674 | ARX | c.1600G>T (p.Ala534Ser) | gnomAD v4 |