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.25004741_25004768del | CA915950800 | ARX | c.1593_1620del (p.Ser531ArgfsTer?) | ClinVar dbSNP |
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=) | |
X | g.25004772G>T | CA515748005 | ARX | c.1587C>A (p.Ala529=) | gnomAD v4 |
X | g.25004773G>A | CA412610703 | ARX | c.1586C>T (p.Ala529Val) | |
X | g.25004773G>C | CA412610704 | ARX | c.1586C>G (p.Ala529Gly) | |
X | g.25004773G>T | CA412610705 | ARX | c.1586C>A (p.Ala529Asp) | |
X | g.25004774C>A | CA412610706 | ARX | c.1585G>T (p.Ala529Ser) | gnomAD v4 |
X | g.25004774C>G | CA412610707 | ARX | c.1585G>C (p.Ala529Pro) | |
X | g.25004774C>T | CA412610708 | ARX | c.1585G>A (p.Ala529Thr) | gnomAD v4 |
X | g.25004775G>A | CA515748017 | ARX | c.1584C>T (p.Arg528=) | gnomAD v4 |
X | g.25004775G>C | CA515748018 | ARX | c.1584C>G (p.Arg528=) | |
X | g.25004775G>T | CA515748020 | ARX | c.1584C>A (p.Arg528=) | |
X | g.25004776C>A | CA412610709 | ARX | c.1583G>T (p.Arg528Leu) | ClinVar |
X | g.25004776C>G | CA412610710 | ARX | c.1583G>C (p.Arg528Pro) | |
X | g.25004776C>T | CA412610711 | ARX | c.1583G>A (p.Arg528His) | gnomAD v4 |
X | g.25004776_25004780delinsCGTCT | CA2420205923 | ARX | c.1579_1583delinsAGACG (p.Arg527=) | |
X | g.25004777G>A | CA412610712 | ARX | c.1582C>T (p.Arg528Cys) | gnomAD v4 |
X | g.25004777G>C | CA412610714 | ARX | c.1582C>G (p.Arg528Gly) | |
X | g.25004777G= | CA2420205924 | ARX | c.1582C= (p.Arg528=) | |
X | g.25004777G>T | CA412610713 | ARX | c.1582C>A (p.Arg528Ser) | dbSNP gnomAD v2 |
X | g.25004782_25004785del | CA16043587 | ARX | c.1579_1582del (p.Arg527AlafsTer5) | ClinVar dbSNP |
X | g.25004778T>A | CA412610715 | ARX | c.1581A>T (p.Arg527Ser) | |
X | g.25004778T>C | CA515748028 | ARX | c.1581A>G (p.Arg527=) | |
X | g.25004778T>G | CA412610716 | ARX | c.1581A>C (p.Arg527Ser) | |
X | g.25004779C>A | CA412610717 | ARX | c.1580G>T (p.Arg527Ile) | |
X | g.25004779C>G | CA412610718 | ARX | c.1580G>C (p.Arg527Thr) | |
X | g.25004779C>T | CA412610719 | ARX | c.1580G>A (p.Arg527Lys) |