| 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.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=) | |
| X | g.25013381A>C | CA412612801 | ARX | c.614T>G (p.Leu205Arg) | |
| X | g.25013381A>G | CA412612802 | ARX | c.614T>C (p.Leu205Pro) | |
| X | g.25013381A>T | CA412612803 | ARX | c.614T>A (p.Leu205His) | |
| X | g.25013382G>A | CA207632 | ARX | c.613C>T (p.Leu205Phe) | ClinVar dbSNP gnomAD v4 |
| X | g.25013382G>C | CA412612804 | ARX | c.613C>G (p.Leu205Val) | |
| X | g.25013382G= | CA2420209242 | ARX | c.613C= (p.Leu205=) | |
| X | g.25013382G>T | CA412612805 | ARX | c.613C>A (p.Leu205Ile) | |
| X | g.25013383G>A | CA515948069 | ARX | c.612C>T (p.Arg204=) | |
| X | g.25013383G>C | CA515948070 | ARX | c.612C>G (p.Arg204=) | |
| X | g.25013383G>T | CA515948071 | ARX | c.612C>A (p.Arg204=) | gnomAD v4 |
| X | g.25013384C>A | CA412612806 | ARX | c.611G>T (p.Arg204Leu) | ClinVar dbSNP gnomAD v4 |
| X | g.25013384C= | CA2420209243 | ARX | c.611G= (p.Arg204=) | |
| X | g.25013384C>G | CA412612807 | ARX | c.611G>C (p.Arg204Pro) | ClinVar gnomAD v4 |
| X | g.25013384C>T | CA10373892 | ARX | c.611G>A (p.Arg204His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013385G>A | CA412612808 | ARX | c.610C>T (p.Arg204Cys) | ClinVar gnomAD v4 |
| X | g.25013385G>C | CA412612809 | ARX | c.610C>G (p.Arg204Gly) | gnomAD v4 |
| X | g.25013385G= | CA2420209244 | ARX | c.610C= (p.Arg204=) | |
| X | g.25013385G>T | CA10373893 | ARX | c.610C>A (p.Arg204Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013386C>A | CA412612810 | ARX | c.609G>T (p.Glu203Asp) | gnomAD v4 |
| X | g.25013386C>G | CA412612811 | ARX | c.609G>C (p.Glu203Asp) | |
| X | g.25013386C>T | CA515948086 | ARX | c.609G>A (p.Glu203=) | |
| X | g.25013387T>A | CA412612812 | ARX | c.608A>T (p.Glu203Val) | |
| X | g.25013387T>C | CA412612813 | ARX | c.608A>G (p.Glu203Gly) | gnomAD v4 |
| X | g.25013387T>G | CA412612814 | ARX | c.608A>C (p.Glu203Ala) | |
| X | g.25013388C>A | CA412612815 | ARX | c.607G>T (p.Glu203Ter) | gnomAD v4 |
| X | g.25013388C>G | CA412612816 | ARX | c.607G>C (p.Glu203Gln) | |
| X | g.25013388C>T | CA412612817 | ARX | c.607G>A (p.Glu203Lys) | gnomAD v4 |
| X | g.25013389C>A | CA412612819 | ARX | c.606G>T (p.Glu202Asp) | gnomAD v4 |
| X | g.25013389C>G | CA412612818 | ARX | c.606G>C (p.Glu202Asp) | ClinVar |
| X | g.25013389C>T | CA515948103 | ARX | c.606G>A (p.Glu202=) | |
| X | g.25013390T>A | CA412612820 | ARX | c.605A>T (p.Glu202Val) | |
| X | g.25013390T>C | CA412612821 | ARX | c.605A>G (p.Glu202Gly) | |
| X | g.25013390T>G | CA412612822 | ARX | c.605A>C (p.Glu202Ala) | |
| X | g.25013391C>A | CA412612823 | ARX | c.604G>T (p.Glu202Ter) | |
| X | g.25013391C>G | CA412612824 | ARX | c.604G>C (p.Glu202Gln) |