| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del | ClinVar |
| X | g.25013344C>A | CA171160 | ARX | c.651G>T (p.Ala217=) | ClinVar dbSNP gnomAD v4 COSMIC |
| X | g.25013344C= | CA2420209222 | ARX | c.651G= (p.Ala217=) | |
| X | g.25013344C>G | CA515947885 | ARX | c.651G>C (p.Ala217=) | |
| X | g.25013344C>T | CA515947887 | ARX | c.651G>A (p.Ala217=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013345G>A | CA412612731 | ARX | c.650C>T (p.Ala217Val) | dbSNP gnomAD v4 |
| X | g.25013345G>C | CA412612732 | ARX | c.650C>G (p.Ala217Gly) | |
| X | g.25013345G= | CA2420209223 | ARX | c.650C= (p.Ala217=) | |
| X | g.25013345G>T | CA412612733 | ARX | c.650C>A (p.Ala217Glu) | gnomAD v4 |
| X | g.25013346C>A | CA412612736 | ARX | c.649G>T (p.Ala217Ser) | gnomAD v4 |
| X | g.25013346C>G | CA412612735 | ARX | c.649G>C (p.Ala217Pro) | |
| X | g.25013346C>T | CA412612734 | ARX | c.649G>A (p.Ala217Thr) | |
| X | g.25013347A= | CA2420209224 | ARX | c.648T= (p.Ala216=) | |
| X | g.25013347A>C | CA515947900 | ARX | c.648T>G (p.Ala216=) | |
| X | g.25013347A>G | CA515947902 | ARX | c.648T>C (p.Ala216=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013347A>T | CA515947905 | ARX | c.648T>A (p.Ala216=) | gnomAD v4 |
| X | g.25013348G>A | CA412612737 | ARX | c.647C>T (p.Ala216Val) | gnomAD v4 |
| X | g.25013348G>C | CA412612738 | ARX | c.647C>G (p.Ala216Gly) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013348G= | CA2420209225 | ARX | c.647C= (p.Ala216=) | |
| X | g.25013348G>T | CA412612739 | ARX | c.647C>A (p.Ala216Asp) | gnomAD v4 |
| X | g.25013352_25013380del | CA2695232864 | ARX | c.619_647del (p.Val207CysfsTer21) | |
| X | g.25013349C>A | CA412612740 | ARX | c.646G>T (p.Ala216Ser) | gnomAD v4 |
| X | g.25013349C>G | CA412612741 | ARX | c.646G>C (p.Ala216Pro) | |
| X | g.25013349C>T | CA412612742 | ARX | c.646G>A (p.Ala216Thr) | |
| X | g.25013354_25013365del | CA2573158498 | ARX | c.635_646del (p.Gly212_Pro215del) | ClinVar dbSNP |
| X | g.25013350C>A | CA515947917 | ARX | c.645G>T (p.Pro215=) | gnomAD v3 gnomAD v4 |
| X | g.25013350C>G | CA515947919 | ARX | c.645G>C (p.Pro215=) | ClinVar |
| X | g.25013350C>T | CA515947923 | ARX | c.645G>A (p.Pro215=) | |
| X | g.25013350_25013353del | CA2573158499 | ARX | c.642_645del (p.Pro215LeufsTer?) | ClinVar dbSNP |
| X | g.25013351G>A | CA412612743 | ARX | c.644C>T (p.Pro215Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013351G>C | CA412612744 | ARX | c.644C>G (p.Pro215Arg) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013351G= | CA2420209226 | ARX | c.644C= (p.Pro215=) | |
| X | g.25013351G>T | CA16608871 | ARX | c.644C>A (p.Pro215Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013352G>A | CA412612745 | ARX | c.643C>T (p.Pro215Ser) | gnomAD v4 |
| X | g.25013352G>C | CA412612746 | ARX | c.643C>G (p.Pro215Ala) | |
| X | g.25013352G>T | CA412612747 | ARX | c.643C>A (p.Pro215Thr) | |
| X | g.25013352_25013381delinsGGGCGCTGCCCGGGCCGCCGGCCACGCCGA | CA2420209227 | ARX | c.614_643delinsTCGGCGTGGCCGGCGGCCCGGGCAGCGCCC (p.Leu205=) | |
| X | g.25013353G>A | CA515947931 | ARX | c.642C>T (p.Ala214=) | |
| X | g.25013353G>C | CA515947932 | ARX | c.642C>G (p.Ala214=) | |
| X | g.25013353G= | CA2420209228 | ARX | c.642C= (p.Ala214=) | |
| X | g.25013353G>T | CA327733051 | ARX | c.642C>A (p.Ala214=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013359_25013387del | CA10605871 | ARX | c.614_642del (p.Leu205ProfsTer23) | ClinVar dbSNP |
| X | g.25013354G>A | CA412612750 | ARX | c.641C>T (p.Ala214Val) | dbSNP gnomAD v4 |
| X | g.25013354G>C | CA412612748 | ARX | c.641C>G (p.Ala214Gly) | dbSNP |
| X | g.25013354G= | CA2420209229 | ARX | c.641C= (p.Ala214=) | |
| X | g.25013354G>T | CA412612749 | ARX | c.641C>A (p.Ala214Asp) | ClinVar |
| X | g.25013355C>A | CA412612751 | ARX | c.640G>T (p.Ala214Ser) | |
| X | g.25013355C>G | CA412612752 | ARX | c.640G>C (p.Ala214Pro) | |
| X | g.25013355C>T | CA412612753 | ARX | c.640G>A (p.Ala214Thr) | gnomAD v4 |
| X | g.25013356G>A | CA515947940 | ARX | c.639C>T (p.Ser213=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |