| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del | ClinVar |
| X | g.25013352_25013380del | CA2695232864 | ARX | c.619_647del (p.Val207CysfsTer21) | |
| X | g.25013354_25013365del | CA2573158498 | ARX | c.635_646del (p.Gly212_Pro215del) | ClinVar dbSNP |
| X | g.25013350_25013353del | CA2573158499 | ARX | c.642_645del (p.Pro215LeufsTer?) | ClinVar dbSNP |
| 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 |
| X | g.25013356G>C | CA412612754 | ARX | c.639C>G (p.Ser213Arg) | |
| X | g.25013356G= | CA2420209230 | ARX | c.639C= (p.Ser213=) | |
| X | g.25013356G>T | CA412612755 | ARX | c.639C>A (p.Ser213Arg) | gnomAD v4 |
| X | g.25013357C>A | CA412612756 | ARX | c.638G>T (p.Ser213Ile) | |
| X | g.25013357C>G | CA412612757 | ARX | c.638G>C (p.Ser213Thr) | |
| X | g.25013357C>T | CA412612758 | ARX | c.638G>A (p.Ser213Asn) | gnomAD v4 |
| X | g.25013358T>A | CA412612759 | ARX | c.637A>T (p.Ser213Cys) | |
| X | g.25013358T>C | CA412612760 | ARX | c.637A>G (p.Ser213Gly) | dbSNP |
| X | g.25013358T>G | CA412612761 | ARX | c.637A>C (p.Ser213Arg) | |
| X | g.25013358T= | CA2420209231 | ARX | c.637A= (p.Ser213=) | |
| X | g.25013359G>A | CA515947948 | ARX | c.636C>T (p.Gly212=) | ClinVar |
| X | g.25013359G>C | CA515947956 | ARX | c.636C>G (p.Gly212=) | |
| X | g.25013359G>T | CA515947951 | ARX | c.636C>A (p.Gly212=) | gnomAD v4 |
| X | g.25013360_25013371dup | CA641364631 | ARX | c.625_636dup (p.Gly212_Ser213insGlyGlyProGly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013360C>A | CA412612764 | ARX | c.635G>T (p.Gly212Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013360C= | CA2420209232 | ARX | c.635G= (p.Gly212=) | |
| X | g.25013360C>G | CA412612763 | ARX | c.635G>C (p.Gly212Ala) | |
| X | g.25013360C>T | CA412612762 | ARX | c.635G>A (p.Gly212Asp) | gnomAD v4 |
| X | g.25013361C>A | CA412612765 | ARX | c.634G>T (p.Gly212Cys) | |
| X | g.25013361C>G | CA412612767 | ARX | c.634G>C (p.Gly212Arg) | |
| X | g.25013361C>T | CA412612766 | ARX | c.634G>A (p.Gly212Ser) | |
| X | g.25013362C>A | CA515947969 | ARX | c.633G>T (p.Pro211=) | gnomAD v4 |
| X | g.25013362C= | CA2420209233 | ARX | c.633G= (p.Pro211=) | |
| X | g.25013362C>G | CA515947972 | ARX | c.633G>C (p.Pro211=) | |
| X | g.25013362C>T | CA10373890 | ARX | c.633G>A (p.Pro211=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013363G>A | CA16608826 | ARX | c.632C>T (p.Pro211Leu) | ClinVar dbSNP gnomAD v4 |
| X | g.25013363G>C | CA412612768 | ARX | c.632C>G (p.Pro211Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013363G= | CA2420209234 | ARX | c.632C= (p.Pro211=) | |
| X | g.25013363G>T | CA412612769 | ARX | c.632C>A (p.Pro211Gln) | gnomAD v4 |
| X | g.25013364G>A | CA412612770 | ARX | c.631C>T (p.Pro211Ser) | |
| X | g.25013364G>C | CA412612771 | ARX | c.631C>G (p.Pro211Ala) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013364G= | CA2420209235 | ARX | c.631C= (p.Pro211=) |