| 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.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) | 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) | |
| X | g.25004780T>A | CA412610720 | ARX | c.1579A>T (p.Arg527Ter) | ClinVar dbSNP |
| X | g.25004780T>C | CA412610721 | ARX | c.1579A>G (p.Arg527Gly) | |
| X | g.25004780T>G | CA515748034 | ARX | c.1579A>C (p.Arg527=) | |
| X | g.25004780T= | CA2420205925 | ARX | c.1579A= (p.Arg527=) | |
| X | g.25004781G>A | CA515748037 | ARX | c.1578C>T (p.Asp526=) | gnomAD v3 gnomAD v4 |
| X | g.25004781G>C | CA412610722 | ARX | c.1578C>G (p.Asp526Glu) | |
| X | g.25004781G>T | CA412610723 | ARX | c.1578C>A (p.Asp526Glu) | gnomAD v4 |
| X | g.25004782T>A | CA412610725 | ARX | c.1577A>T (p.Asp526Val) | |
| X | g.25004782T>C | CA412610726 | ARX | c.1577A>G (p.Asp526Gly) | gnomAD v4 |
| X | g.25004782T>G | CA412610724 | ARX | c.1577A>C (p.Asp526Ala) | |
| X | g.25004783C>A | CA412610727 | ARX | c.1576G>T (p.Asp526Tyr) | gnomAD v4 |
| X | g.25004783C>G | CA412610728 | ARX | c.1576G>C (p.Asp526His) | |
| X | g.25004783C>T | CA412610729 | ARX | c.1576G>A (p.Asp526Asn) | |
| X | g.25004784T>A | CA515748043 | ARX | c.1575A>T (p.Ala525=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25004784T>C | CA515748045 | ARX | c.1575A>G (p.Ala525=) | gnomAD v4 |
| X | g.25004784T>G | CA515748046 | ARX | c.1575A>C (p.Ala525=) | |
| X | g.25004784T= | CA2420205926 | ARX | c.1575A= (p.Ala525=) | |
| X | g.25004785G>A | CA412610730 | ARX | c.1574C>T (p.Ala525Val) | |
| X | g.25004785G>C | CA412610731 | ARX | c.1574C>G (p.Ala525Gly) | |
| X | g.25004785G>T | CA412610732 | ARX | c.1574C>A (p.Ala525Glu) | |
| X | g.25004786C>A | CA412610733 | ARX | c.1573G>T (p.Ala525Ser) | gnomAD v4 |
| X | g.25004786C>G | CA412610734 | ARX | c.1573G>C (p.Ala525Pro) | |
| X | g.25004786C>T | CA412610735 | ARX | c.1573G>A (p.Ala525Thr) | |
| 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 |