UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.25007129del | CA2580100519 | ARX | c.1430del (p.Ile477ThrfsTer15) c.43del | ClinVar |
| X | g.25007129A= | CA2420207007 | ARX | c.1430T= (p.Ile477=) c.43T= | |
| X | g.25007129A>C | CA412611033 | ARX | c.1430T>G (p.Ile477Ser) c.43T>G | dbSNP |
| X | g.25007129A>G | CA412611034 | ARX | c.1430T>C (p.Ile477Thr) c.43T>C | |
| X | g.25007129A>T | CA412611032 | ARX | c.1430T>A (p.Ile477Asn) c.43T>A | |
| X | g.25007130T>A | CA412611036 | ARX | c.1429A>T (p.Ile477Phe) c.42A>T | |
| X | g.25007130T>C | CA412611035 | ARX | c.1429A>G (p.Ile477Val) c.42A>G | dbSNP |
| X | g.25007130T>G | CA412611037 | ARX | c.1429A>C (p.Ile477Leu) c.42A>C | |
| X | g.25007130T= | CA2420207009 | ARX | c.1429A= (p.Ile477=) c.42A= | |
| X | g.25007130_25007145delinsTGAAAGCTGGGTGTCG | CA2420207008 | ARX | c.1414_1429delinsCGACACCCAGCTTTCA (p.Arg472=) c.27_42delinsCGACACCCAGCTTTCA | |
| X | g.25007131G>A | CA515946948 | ARX | c.1428C>T (p.Phe476=) c.41C>T | ClinVar |
| X | g.25007131G>C | CA412611038 | ARX | c.1428C>G (p.Phe476Leu) c.41C>G | |
| X | g.25007131G>T | CA412611039 | ARX | c.1428C>A (p.Phe476Leu) c.41C>A | |
| X | g.25007131_25007132delinsTT | CA2695232855 | ARX | c.1427_1428delinsAA (p.Phe476Ter) c.40_41delinsAA | |
| X | g.25007134_25007148del | CA915950803 | ARX | c.1414_1428del (p.Arg472_Phe476del) c.27_41del | ClinVar dbSNP |
| X | g.25007132A>C | CA412611040 | ARX | c.1427T>G (p.Phe476Cys) c.40T>G | |
| X | g.25007132A>G | CA412611041 | ARX | c.1427T>C (p.Phe476Ser) c.40T>C | gnomAD v4 |
| X | g.25007132A>T | CA412611042 | ARX | c.1427T>A (p.Phe476Tyr) c.40T>A | |
| 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 |