| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del | ClinVar |
| X | g.25013452G>A | CA289511 | ARX | c.543C>T (p.Pro181=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013452G>C | CA515948293 | ARX | c.543C>G (p.Pro181=) | |
| X | g.25013452G= | CA2420209275 | ARX | c.543C= (p.Pro181=) | |
| X | g.25013452G>T | CA515948294 | ARX | c.543C>A (p.Pro181=) | gnomAD v4 |
| X | g.25013453G>A | CA412612947 | ARX | c.542C>T (p.Pro181Leu) | gnomAD v4 |
| X | g.25013453G>C | CA412612948 | ARX | c.542C>G (p.Pro181Arg) | |
| X | g.25013453G>T | CA412612949 | ARX | c.542C>A (p.Pro181His) | gnomAD v4 |
| X | g.25013454G>A | CA412612950 | ARX | c.541C>T (p.Pro181Ser) | ClinVar gnomAD v4 |
| X | g.25013454G>C | CA412612951 | ARX | c.541C>G (p.Pro181Ala) | gnomAD v4 |
| X | g.25013454G>T | CA412612952 | ARX | c.541C>A (p.Pro181Thr) | ClinVar dbSNP gnomAD v4 |
| X | g.25013455C>A | CA241831 | ARX | c.540G>T (p.Ala180=) | ClinVar dbSNP gnomAD v4 |
| X | g.25013455C= | CA2420209276 | ARX | c.540G= (p.Ala180=) | |
| X | g.25013455C>G | CA515947493 | ARX | c.540G>C (p.Ala180=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013455C>T | CA515947492 | ARX | c.540G>A (p.Ala180=) | ClinVar dbSNP gnomAD v4 |
| X | g.25013456G>A | CA412612954 | ARX | c.539C>T (p.Ala180Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013456G>C | CA412612953 | ARX | c.539C>G (p.Ala180Gly) | gnomAD v4 |
| X | g.25013456G= | CA2420209277 | ARX | c.539C= (p.Ala180=) | |
| X | g.25013456G>T | CA412612955 | ARX | c.539C>A (p.Ala180Glu) | gnomAD v4 |
| X | g.25013457C>A | CA412612956 | ARX | c.538G>T (p.Ala180Ser) | gnomAD v4 |
| X | g.25013457C= | CA2420209278 | ARX | c.538G= (p.Ala180=) | |
| X | g.25013457C>G | CA412612957 | ARX | c.538G>C (p.Ala180Pro) | dbSNP |
| X | g.25013457C>T | CA412612958 | ARX | c.538G>A (p.Ala180Thr) | gnomAD v4 |
| X | g.25013460del | CA2693353703 | ARX | c.538del (p.Ala180ArgfsTer?) | gnomAD v4 |
| X | g.25013458C>A | CA515947498 | ARX | c.537G>T (p.Gly179=) | gnomAD v4 |
| X | g.25013458C>G | CA515947499 | ARX | c.537G>C (p.Gly179=) | gnomAD v4 |
| X | g.25013458C>T | CA515947500 | ARX | c.537G>A (p.Gly179=) | gnomAD v4 |
| X | g.25013459C>A | CA412612959 | ARX | c.536G>T (p.Gly179Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013459C= | CA2420209279 | ARX | c.536G= (p.Gly179=) | |
| X | g.25013459C>G | CA412612960 | ARX | c.536G>C (p.Gly179Ala) | gnomAD v4 |
| X | g.25013459C>T | CA412612961 | ARX | c.536G>A (p.Gly179Glu) | gnomAD v4 |
| X | g.25013460C>A | CA412612962 | ARX | c.535G>T (p.Gly179Trp) | gnomAD v4 |
| X | g.25013460C= | CA2420209280 | ARX | c.535G= (p.Gly179=) | |
| X | g.25013460C>G | CA412612963 | ARX | c.535G>C (p.Gly179Arg) | ClinVar dbSNP |
| X | g.25013460C>T | CA412612964 | ARX | c.535G>A (p.Gly179Arg) | gnomAD v4 |
| X | g.25013461G>A | CA515947501 | ARX | c.534C>T (p.Asn178=) | gnomAD v4 |
| X | g.25013461G>C | CA412612965 | ARX | c.534C>G (p.Asn178Lys) | gnomAD v4 |
| X | g.25013461G>T | CA412612966 | ARX | c.534C>A (p.Asn178Lys) | gnomAD v4 |
| X | g.25013462T>A | CA412612969 | ARX | c.533A>T (p.Asn178Ile) | gnomAD v4 |
| X | g.25013462T>C | CA412612968 | ARX | c.533A>G (p.Asn178Ser) | gnomAD v4 |
| X | g.25013462T>G | CA412612967 | ARX | c.533A>C (p.Asn178Thr) | |
| X | g.25013463T>A | CA412612970 | ARX | c.532A>T (p.Asn178Tyr) | gnomAD v4 |
| X | g.25013463T>C | CA412612971 | ARX | c.532A>G (p.Asn178Asp) | gnomAD v4 |
| X | g.25013463T>G | CA412612972 | ARX | c.532A>C (p.Asn178His) | |
| X | g.25013464C>A | CA412612973 | ARX | c.531G>T (p.Glu177Asp) | gnomAD v4 |
| X | g.25013464C>G | CA412612974 | ARX | c.531G>C (p.Glu177Asp) | |
| X | g.25013464C>T | CA515947508 | ARX | c.531G>A (p.Glu177=) | gnomAD v4 |
| X | g.25013465T>A | CA412612975 | ARX | c.530A>T (p.Glu177Val) | gnomAD v4 |
| X | g.25013465T>C | CA412612976 | ARX | c.530A>G (p.Glu177Gly) | gnomAD v4 |
| X | g.25013465T>G | CA412612977 | ARX | c.530A>C (p.Glu177Ala) | dbSNP gnomAD v3 gnomAD v4 |