Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.25004891_25007522dup | CA10575788 | ARX | c.1120-82_1469dup | ClinVar |
X | g.25007115_25007136del | CA2695232854 | ARX | c.1425_1446del (p.Phe476GlyfsTer9) c.38_59del | |
X | g.25007130_25007145delinsTGAAAGCTGGGTGTCG | CA2420207008 | ARX | c.1414_1429delinsCGACACCCAGCTTTCA (p.Arg472=) c.27_42delinsCGACACCCAGCTTTCA | |
X | g.25007134_25007148del | CA915950803 | ARX | c.1414_1428del (p.Arg472_Phe476del) c.27_41del | ClinVar dbSNP |
X | g.25007133A>C | CA412611043 | ARX | c.1426T>G (p.Phe476Val) c.39T>G | |
X | g.25007133A>G | CA412611044 | ARX | c.1426T>C (p.Phe476Leu) c.39T>C | |
X | g.25007133A>T | CA412611045 | ARX | c.1426T>A (p.Phe476Ile) c.39T>A | |
X | g.25007134A>C | CA515946949 | ARX | c.1425T>G (p.Ala475=) c.38T>G | |
X | g.25007134A>G | CA515946950 | ARX | c.1425T>C (p.Ala475=) c.38T>C | ClinVar dbSNP |
X | g.25007134A>T | CA515946951 | ARX | c.1425T>A (p.Ala475=) c.38T>A | |
X | g.25007135G>A | CA412611046 | ARX | c.1424C>T (p.Ala475Val) c.37C>T | |
X | g.25007135G>C | CA412611047 | ARX | c.1424C>G (p.Ala475Gly) c.37C>G | |
X | g.25007135G>T | CA412611048 | ARX | c.1424C>A (p.Ala475Asp) c.37C>A | gnomAD v4 |
X | g.25007136C>A | CA412611051 | ARX | c.1423G>T (p.Ala475Ser) c.36G>T | |
X | g.25007136C>G | CA412611049 | ARX | c.1423G>C (p.Ala475Pro) c.36G>C | |
X | g.25007136C>T | CA412611050 | ARX | c.1423G>A (p.Ala475Thr) c.36G>A | |
X | g.25007137T>A | CA515946952 | ARX | c.1422A>T (p.Pro474=) c.35A>T | |
X | g.25007137T>C | CA515946954 | ARX | c.1422A>G (p.Pro474=) c.35A>G | |
X | g.25007137T>G | CA515946953 | ARX | c.1422A>C (p.Pro474=) c.35A>C | |
X | g.25007138G>A | CA412611052 | ARX | c.1421C>T (p.Pro474Leu) c.34C>T | gnomAD v4 |
X | g.25007138G>C | CA412611053 | ARX | c.1421C>G (p.Pro474Arg) c.34C>G | |
X | g.25007138G>T | CA412611054 | ARX | c.1421C>A (p.Pro474Gln) c.34C>A | gnomAD v4 |
X | g.25007139G>A | CA412611055 | ARX | c.1420C>T (p.Pro474Ser) c.33C>T | |
X | g.25007139G>C | CA412611056 | ARX | c.1420C>G (p.Pro474Ala) c.33C>G | |
X | g.25007139G>T | CA412611057 | ARX | c.1420C>A (p.Pro474Thr) c.33C>A | gnomAD v4 |
X | g.25007141_25007146del | CA2693353156 | ARX | c.1415_1420del (p.Arg472_His473del) c.28_33del | gnomAD v4 |
X | g.25007140G>A | CA515946955 | ARX | c.1419C>T (p.His473=) c.32C>T | gnomAD v4 |
X | g.25007140G>C | CA412611058 | ARX | c.1419C>G (p.His473Gln) c.32C>G | |
X | g.25007140G>T | CA412611059 | ARX | c.1419C>A (p.His473Gln) c.32C>A | gnomAD v4 |
X | g.25007142_25007143dup | CA2695232856 | ARX | c.1418_1419dup (p.Pro474ThrfsTer19) c.31_32dup | |
X | g.25007141T>A | CA412611060 | ARX | c.1418A>T (p.His473Leu) c.31A>T | |
X | g.25007141T>C | CA412611061 | ARX | c.1418A>G (p.His473Arg) c.31A>G | |
X | g.25007141T>G | CA412611062 | ARX | c.1418A>C (p.His473Pro) c.31A>C | |
X | g.25007142G>A | CA412611064 | ARX | c.1417C>T (p.His473Tyr) c.30C>T | |
X | g.25007142G>C | CA412611065 | ARX | c.1417C>G (p.His473Asp) c.30C>G | |
X | g.25007142G>T | CA412611063 | ARX | c.1417C>A (p.His473Asn) c.30C>A | gnomAD v4 COSMIC |
X | g.25007143T>A | CA515946956 | ARX | c.1416A>T (p.Arg472=) c.29A>T | |
X | g.25007143T>C | CA515946957 | ARX | c.1416A>G (p.Arg472=) c.29A>G | |
X | g.25007143T>G | CA515946958 | ARX | c.1416A>C (p.Arg472=) c.29A>C | |
X | g.25007144C>A | CA412611066 | ARX | c.1415G>T (p.Arg472Leu) c.28G>T | gnomAD v4 |
X | g.25007144C>G | CA412611067 | ARX | c.1415G>C (p.Arg472Pro) c.28G>C | |
X | g.25007144C>T | CA412611068 | ARX | c.1415G>A (p.Arg472Gln) c.28G>A | gnomAD v4 |
X | g.25007145_25007154del | CA2499226602 | ARX | c.1406_1415del (p.Ala469AspfsTer20) c.19_28del | ClinVar dbSNP |
X | g.25007145G>A | CA213233 | ARX | c.1414C>T (p.Arg472Ter) c.27C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25007145G>C | CA412611069 | ARX | c.1414C>G (p.Arg472Gly) c.27C>G | |
X | g.25007145G= | CA2420207010 | ARX | c.1414C= (p.Arg472=) c.27C= | |
X | g.25007145G>T | CA515946959 | ARX | c.1414C>A (p.Arg472=) c.27C>A | gnomAD v4 |
X | g.25007146G>A | CA515946960 | ARX | c.1413C>T (p.Phe471=) c.26C>T | gnomAD v3 gnomAD v4 |
X | g.25007146G>C | CA412611070 | ARX | c.1413C>G (p.Phe471Leu) c.26C>G | |
X | g.25007146G>T | CA412611071 | ARX | c.1413C>A (p.Phe471Leu) c.26C>A |