Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del | ClinVar |
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 |
X | g.25013465T= | CA2420209281 | ARX | c.530A= (p.Glu177=) | |
X | g.25013466C>A | CA412612978 | ARX | c.529G>T (p.Glu177Ter) | gnomAD v4 |
X | g.25013466C>G | CA412612979 | ARX | c.529G>C (p.Glu177Gln) | |
X | g.25013466C>T | CA412612980 | ARX | c.529G>A (p.Glu177Lys) | gnomAD v4 |
X | g.25013467G>A | CA10373895 | ARX | c.528C>T (p.Arg176=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013467G>C | CA515947515 | ARX | c.528C>G (p.Arg176=) | |
X | g.25013467G= | CA2420209282 | ARX | c.528C= (p.Arg176=) | |
X | g.25013467G>T | CA515947518 | ARX | c.528C>A (p.Arg176=) | gnomAD v4 |
X | g.25013468C>A | CA412612983 | ARX | c.527G>T (p.Arg176Leu) | gnomAD v4 |
X | g.25013468C>G | CA412612982 | ARX | c.527G>C (p.Arg176Pro) | gnomAD v4 |
X | g.25013468C>T | CA412612981 | ARX | c.527G>A (p.Arg176His) | gnomAD v4 |
X | g.25013469G>A | CA412612984 | ARX | c.526C>T (p.Arg176Cys) | gnomAD v4 |
X | g.25013469G>C | CA412612985 | ARX | c.526C>G (p.Arg176Gly) | |
X | g.25013469G>T | CA412612986 | ARX | c.526C>A (p.Arg176Ser) | gnomAD v4 |
X | g.25013470G>A | CA515947523 | ARX | c.525C>T (p.Tyr175=) | gnomAD v4 |
X | g.25013470G>C | CA412612987 | ARX | c.525C>G (p.Tyr175Ter) | ClinVar dbSNP gnomAD v4 |
X | g.25013470G= | CA2420209283 | ARX | c.525C= (p.Tyr175=) | |
X | g.25013470G>T | CA412612988 | ARX | c.525C>A (p.Tyr175Ter) | gnomAD v4 |
X | g.25013471T>A | CA412612991 | ARX | c.524A>T (p.Tyr175Phe) | gnomAD v4 |
X | g.25013471T>C | CA412612990 | ARX | c.524A>G (p.Tyr175Cys) | gnomAD v4 |
X | g.25013471T>G | CA412612989 | ARX | c.524A>C (p.Tyr175Ser) | |
X | g.25013472A= | CA2420209284 | ARX | c.523T= (p.Tyr175=) |