| 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.25013352_25013381delinsGGGCGCTGCCCGGGCCGCCGGCCACGCCGA | CA2420209227 | ARX | c.614_643delinsTCGGCGTGGCCGGCGGCCCGGGCAGCGCCC (p.Leu205=) | |
| X | g.25013359_25013387del | CA10605871 | ARX | c.614_642del (p.Leu205ProfsTer23) | ClinVar dbSNP |
| X | g.25013360_25013371dup | CA641364631 | ARX | c.625_636dup (p.Gly212_Ser213insGlyGlyProGly) | ClinVar dbSNP 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=) | |
| X | g.25013364G>T | CA412612772 | ARX | c.631C>A (p.Pro211Thr) | gnomAD v4 |
| X | g.25013365G>A | CA515947983 | ARX | c.630C>T (p.Gly210=) | gnomAD v4 |
| X | g.25013365G>C | CA515947985 | ARX | c.630C>G (p.Gly210=) | |
| X | g.25013365G>T | CA515947986 | ARX | c.630C>A (p.Gly210=) | gnomAD v4 |
| X | g.25013366C>A | CA412612773 | ARX | c.629G>T (p.Gly210Val) | ClinVar dbSNP |
| X | g.25013366C= | CA2420209236 | ARX | c.629G= (p.Gly210=) | |
| X | g.25013366C>G | CA10373891 | ARX | c.629G>C (p.Gly210Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013366C>T | CA412612774 | ARX | c.629G>A (p.Gly210Asp) | gnomAD v4 |
| X | g.25013367C>A | CA412612775 | ARX | c.628G>T (p.Gly210Cys) | gnomAD v4 |
| X | g.25013367C>G | CA412612776 | ARX | c.628G>C (p.Gly210Arg) | gnomAD v4 |
| X | g.25013367C>T | CA412612777 | ARX | c.628G>A (p.Gly210Ser) | ClinVar gnomAD v4 |
| X | g.25013368G>A | CA515947996 | ARX | c.627C>T (p.Gly209=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013368G>C | CA515947998 | ARX | c.627C>G (p.Gly209=) | |
| X | g.25013368G= | CA2420209237 | ARX | c.627C= (p.Gly209=) | |
| X | g.25013368G>T | CA515947999 | ARX | c.627C>A (p.Gly209=) | gnomAD v4 |
| X | g.25013369C>A | CA412612780 | ARX | c.626G>T (p.Gly209Val) | |
| X | g.25013369C>G | CA412612779 | ARX | c.626G>C (p.Gly209Ala) | |
| X | g.25013369C>T | CA412612778 | ARX | c.626G>A (p.Gly209Asp) | gnomAD v4 |
| X | g.25013370C>A | CA412612781 | ARX | c.625G>T (p.Gly209Cys) | gnomAD v4 |
| X | g.25013370C= | CA2420209238 | ARX | c.625G= (p.Gly209=) | |
| X | g.25013370C>G | CA171158 | ARX | c.625G>C (p.Gly209Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013370C>T | CA412612782 | ARX | c.625G>A (p.Gly209Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013371G>A | CA515948010 | ARX | c.624C>T (p.Ala208=) | gnomAD v4 |
| X | g.25013371G>C | CA515948018 | ARX | c.624C>G (p.Ala208=) | |
| X | g.25013371G>T | CA515948013 | ARX | c.624C>A (p.Ala208=) | |
| X | g.25013372G>A | CA412612783 | ARX | c.623C>T (p.Ala208Val) | ClinVar dbSNP |
| X | g.25013372G>C | CA412612784 | ARX | c.623C>G (p.Ala208Gly) | |
| X | g.25013372G>T | CA412612785 | ARX | c.623C>A (p.Ala208Asp) | gnomAD v4 |
| X | g.25013373C>A | CA412612786 | ARX | c.622G>T (p.Ala208Ser) | |
| X | g.25013373C>G | CA412612787 | ARX | c.622G>C (p.Ala208Pro) | |
| X | g.25013373C>T | CA412612788 | ARX | c.622G>A (p.Ala208Thr) | gnomAD v4 |
| X | g.25013374C>A | CA515948028 | ARX | c.621G>T (p.Val207=) | |
| X | g.25013374C= | CA2420209239 | ARX | c.621G= (p.Val207=) | |
| X | g.25013374C>G | CA515948030 | ARX | c.621G>C (p.Val207=) | |
| X | g.25013374C>T | CA515948032 | ARX | c.621G>A (p.Val207=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013375A>C | CA412612789 | ARX | c.620T>G (p.Val207Gly) | |
| X | g.25013375A>G | CA412612790 | ARX | c.620T>C (p.Val207Ala) | ClinVar |