| 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.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.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 |
| X | g.25013375A>T | CA412612791 | ARX | c.620T>A (p.Val207Glu) | |
| X | g.25013376C>A | CA412612794 | ARX | c.619G>T (p.Val207Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013376C= | CA2420209240 | ARX | c.619G= (p.Val207=) | |
| X | g.25013376C>G | CA412612793 | ARX | c.619G>C (p.Val207Leu) | dbSNP |
| X | g.25013376C>T | CA412612792 | ARX | c.619G>A (p.Val207Met) | gnomAD v4 |
| X | g.25013377G>A | CA515948037 | ARX | c.618C>T (p.Gly206=) | ClinVar gnomAD v4 |
| X | g.25013377G>C | CA515948046 | ARX | c.618C>G (p.Gly206=) | |
| X | g.25013377G>T | CA515948048 | ARX | c.618C>A (p.Gly206=) | |
| X | g.25013377_25013378delinsGC | CA2420209241 | ARX | c.617_618delinsGC (p.Gly206=) | |
| X | g.25013378C>A | CA412612795 | ARX | c.617G>T (p.Gly206Val) | gnomAD v4 |
| X | g.25013378C>G | CA412612796 | ARX | c.617G>C (p.Gly206Ala) | |
| X | g.25013378C>T | CA412612797 | ARX | c.617G>A (p.Gly206Asp) | |
| X | g.25013379del | CA213237 | ARX | c.617del (p.Gly206AlafsTer?) | ClinVar dbSNP |
| X | g.25013379C>A | CA412612798 | ARX | c.616G>T (p.Gly206Cys) | |
| X | g.25013379C>G | CA412612799 | ARX | c.616G>C (p.Gly206Arg) | gnomAD v4 |
| X | g.25013379C>T | CA412612800 | ARX | c.616G>A (p.Gly206Ser) | |
| X | g.25013380G>A | CA515948057 | ARX | c.615C>T (p.Leu205=) | ClinVar gnomAD v4 |
| X | g.25013380G>C | CA515948058 | ARX | c.615C>G (p.Leu205=) | |
| X | g.25013380G>T | CA515948056 | ARX | c.615C>A (p.Leu205=) |