| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del | ClinVar |
| 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=) | |
| X | g.25013472A>C | CA412612992 | ARX | c.523T>G (p.Tyr175Asp) | |
| X | g.25013472A>G | CA412612993 | ARX | c.523T>C (p.Tyr175His) | dbSNP gnomAD v4 |
| X | g.25013472A>T | CA412612994 | ARX | c.523T>A (p.Tyr175Asn) | gnomAD v4 |
| X | g.25013473C>A | CA515947532 | ARX | c.522G>T (p.Ser174=) | ClinVar dbSNP gnomAD v4 |
| X | g.25013473C= | CA2420209285 | ARX | c.522G= (p.Ser174=) | |
| X | g.25013473C>G | CA515947534 | ARX | c.522G>C (p.Ser174=) | |
| X | g.25013473C>T | CA515947537 | ARX | c.522G>A (p.Ser174=) | gnomAD v4 |
| X | g.25013474G>A | CA412612995 | ARX | c.521C>T (p.Ser174Leu) | gnomAD v4 |
| X | g.25013474G>C | CA412612996 | ARX | c.521C>G (p.Ser174Trp) | |
| X | g.25013474G>T | CA412612997 | ARX | c.521C>A (p.Ser174Ter) | gnomAD v4 |
| X | g.25013475A>C | CA412612998 | ARX | c.520T>G (p.Ser174Ala) | |
| X | g.25013475A>G | CA412613000 | ARX | c.520T>C (p.Ser174Pro) | gnomAD v4 |
| X | g.25013475A>T | CA412612999 | ARX | c.520T>A (p.Ser174Thr) | gnomAD v4 |
| X | g.25013476C>A | CA412613001 | ARX | c.519G>T (p.Lys173Asn) | gnomAD v4 |
| X | g.25013476C= | CA2420209286 | ARX | c.519G= (p.Lys173=) | |
| X | g.25013476C>G | CA412613002 | ARX | c.519G>C (p.Lys173Asn) | gnomAD v4 |
| X | g.25013476C>T | CA515947547 | ARX | c.519G>A (p.Lys173=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013477T>A | CA412613003 | ARX | c.518A>T (p.Lys173Met) | gnomAD v4 |
| X | g.25013477T>C | CA412613004 | ARX | c.518A>G (p.Lys173Arg) | gnomAD v4 |
| X | g.25013477T>G | CA412613005 | ARX | c.518A>C (p.Lys173Thr) | |
| X | g.25013478T>A | CA412613006 | ARX | c.517A>T (p.Lys173Ter) | gnomAD v4 |
| X | g.25013478T>C | CA412613007 | ARX | c.517A>G (p.Lys173Glu) | gnomAD v4 |
| X | g.25013478T>G | CA412613008 | ARX | c.517A>C (p.Lys173Gln) | |
| X | g.25013479G>A | CA515947557 | ARX | c.516C>T (p.Ser172=) | ClinVar dbSNP gnomAD v4 |
| X | g.25013479G>C | CA412613009 | ARX | c.516C>G (p.Ser172Arg) | gnomAD v4 |
| X | g.25013479G= | CA2420209287 | ARX | c.516C= (p.Ser172=) | |
| X | g.25013479G>T | CA412613010 | ARX | c.516C>A (p.Ser172Arg) | gnomAD v4 |
| X | g.25013480C>A | CA412613013 | ARX | c.515G>T (p.Ser172Ile) | gnomAD v4 |