WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.133539795_133539807dup | CA2692391810 | ADAMTSL2 | c.334_346dup (p.Gln116LeufsTer28) c.661_673dup (p.Gln225LeufsTer28) c.369_381dup (p.Ser128PhefsTer?) c.222_234dup (p.Ser79PhefsTer?) c.400_412dup (p.Gln138LeufsTer28) c.549_561dup (p.Ser188PhefsTer?) | gnomAD v4 |
| 9 | g.133539801G>A | CA339826 | ADAMTSL2 | c.340G>A (p.Glu114Lys) c.667G>A (p.Glu223Lys) c.375G>A (p.Ala125=) c.228G>A (p.Ala76=) c.406G>A (p.Glu136Lys) c.555G>A (p.Ala185=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133539801G>C | CA375402400 | ADAMTSL2 | c.340G>C (p.Glu114Gln) c.667G>C (p.Glu223Gln) c.375G>C (p.Ala125=) c.228G>C (p.Ala76=) c.406G>C (p.Glu136Gln) c.555G>C (p.Ala185=) | |
| 9 | g.133539801G= | CA1882727635 | ADAMTSL2 | c.340G= (p.Glu114=) c.667G= (p.Glu223=) c.375G= (p.Ala125=) c.228G= (p.Ala76=) c.406G= (p.Glu136=) c.555G= (p.Ala185=) | |
| 9 | g.133539801G>T | CA375402403 | ADAMTSL2 | c.340G>T (p.Glu114Ter) c.667G>T (p.Glu223Ter) c.375G>T (p.Ala125=) c.228G>T (p.Ala76=) c.406G>T (p.Glu136Ter) c.555G>T (p.Ala185=) | gnomAD v4 |
| 9 | g.133539802A>C | CA375402406 | ADAMTSL2 | c.341A>C (p.Glu114Ala) c.668A>C (p.Glu223Ala) c.376A>C (p.Arg126=) c.229A>C (p.Arg77=) c.407A>C (p.Glu136Ala) c.556A>C (p.Arg186=) | |
| 9 | g.133539802A>G | CA375402404 | ADAMTSL2 | c.341A>G (p.Glu114Gly) c.668A>G (p.Glu223Gly) c.376A>G (p.Arg126Gly) c.229A>G (p.Arg77Gly) c.407A>G (p.Glu136Gly) c.556A>G (p.Arg186Gly) | |
| 9 | g.133539802A>T | CA375402405 | ADAMTSL2 | c.341A>T (p.Glu114Val) c.668A>T (p.Glu223Val) c.376A>T (p.Arg126Trp) c.229A>T (p.Arg77Trp) c.407A>T (p.Glu136Val) c.556A>T (p.Arg186Trp) | |
| 9 | g.133539803G>A | CA200958931 | ADAMTSL2 | c.342G>A (p.Glu114=) c.669G>A (p.Glu223=) c.377G>A (p.Arg126Lys) c.230G>A (p.Arg77Lys) c.408G>A (p.Glu136=) c.557G>A (p.Arg186Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.133539803G>C | CA375402407 | ADAMTSL2 | c.342G>C (p.Glu114Asp) c.669G>C (p.Glu223Asp) c.377G>C (p.Arg126Thr) c.230G>C (p.Arg77Thr) c.408G>C (p.Glu136Asp) c.557G>C (p.Arg186Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133539803G= | CA1882727644 | ADAMTSL2 | c.342G= (p.Glu114=) c.669G= (p.Glu223=) c.377G= (p.Arg126=) c.230G= (p.Arg77=) c.408G= (p.Glu136=) c.557G= (p.Arg186=) | |
| 9 | g.133539803G>T | CA375402410 | ADAMTSL2 | c.342G>T (p.Glu114Asp) c.669G>T (p.Glu223Asp) c.377G>T (p.Arg126Met) c.230G>T (p.Arg77Met) c.408G>T (p.Glu136Asp) c.557G>T (p.Arg186Met) | gnomAD v4 |
| 9 | g.133539804G>A | CA375402414 | ADAMTSL2 | c.343G>A (p.Glu115Lys) c.670G>A (p.Glu224Lys) c.378G>A (p.Arg126=) c.231G>A (p.Arg77=) c.409G>A (p.Glu137Lys) c.558G>A (p.Arg186=) | gnomAD v4 COSMIC COSMIC |
| 9 | g.133539804G>C | CA375402416 | ADAMTSL2 | c.343G>C (p.Glu115Gln) c.670G>C (p.Glu224Gln) c.378G>C (p.Arg126Ser) c.231G>C (p.Arg77Ser) c.409G>C (p.Glu137Gln) c.558G>C (p.Arg186Ser) | gnomAD v4 |
| 9 | g.133539804G= | CA1882727650 | ADAMTSL2 | c.343G= (p.Glu115=) c.670G= (p.Glu224=) c.378G= (p.Arg126=) c.231G= (p.Arg77=) c.409G= (p.Glu137=) c.558G= (p.Arg186=) | |
| 9 | g.133539804G>T | CA375402421 | ADAMTSL2 | c.343G>T (p.Glu115Ter) c.670G>T (p.Glu224Ter) c.378G>T (p.Arg126Ser) c.231G>T (p.Arg77Ser) c.409G>T (p.Glu137Ter) c.558G>T (p.Arg186Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.133539805A>C | CA375402423 | ADAMTSL2 | c.344A>C (p.Glu115Ala) c.671A>C (p.Glu224Ala) c.379A>C (p.Ser127Arg) c.232A>C (p.Ser78Arg) c.410A>C (p.Glu137Ala) c.559A>C (p.Ser187Arg) | |
| 9 | g.133539805A>G | CA375402428 | ADAMTSL2 | c.344A>G (p.Glu115Gly) c.671A>G (p.Glu224Gly) c.379A>G (p.Ser127Gly) c.232A>G (p.Ser78Gly) c.410A>G (p.Glu137Gly) c.559A>G (p.Ser187Gly) | |
| 9 | g.133539805A>T | CA375402431 | ADAMTSL2 | c.344A>T (p.Glu115Val) c.671A>T (p.Glu224Val) c.379A>T (p.Ser127Cys) c.232A>T (p.Ser78Cys) c.410A>T (p.Glu137Val) c.559A>T (p.Ser187Cys) | |
| 9 | g.133539806G>A | CA200958941 | ADAMTSL2 | c.345G>A (p.Glu115=) c.672G>A (p.Glu224=) c.380G>A (p.Ser127Asn) c.233G>A (p.Ser78Asn) c.411G>A (p.Glu137=) c.560G>A (p.Ser187Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133539806G>C | CA375402434 | ADAMTSL2 | c.345G>C (p.Glu115Asp) c.672G>C (p.Glu224Asp) c.380G>C (p.Ser127Thr) c.233G>C (p.Ser78Thr) c.411G>C (p.Glu137Asp) c.560G>C (p.Ser187Thr) | |
| 9 | g.133539806G= | CA1882727656 | ADAMTSL2 | c.345G= (p.Glu115=) c.672G= (p.Glu224=) c.380G= (p.Ser127=) c.233G= (p.Ser78=) c.411G= (p.Glu137=) c.560G= (p.Ser187=) | |
| 9 | g.133539806G>T | CA375402436 | ADAMTSL2 | c.345G>T (p.Glu115Asp) c.672G>T (p.Glu224Asp) c.380G>T (p.Ser127Ile) c.233G>T (p.Ser78Ile) c.411G>T (p.Glu137Asp) c.560G>T (p.Ser187Ile) | gnomAD v4 |
| 9 | g.133539807C>A | CA375402443 | ADAMTSL2 | c.346C>A (p.Gln116Lys) c.673C>A (p.Gln225Lys) c.381C>A (p.Ser127Arg) c.234C>A (p.Ser78Arg) c.412C>A (p.Gln138Lys) c.561C>A (p.Ser187Arg) | |
| 9 | g.133539807C= | CA1882727662 | ADAMTSL2 | c.346C= (p.Gln116=) c.673C= (p.Gln225=) c.381C= (p.Ser127=) c.234C= (p.Ser78=) c.412C= (p.Gln138=) c.561C= (p.Ser187=) | |
| 9 | g.133539807C>G | CA375402440 | ADAMTSL2 | c.346C>G (p.Gln116Glu) c.673C>G (p.Gln225Glu) c.381C>G (p.Ser127Arg) c.234C>G (p.Ser78Arg) c.412C>G (p.Gln138Glu) c.561C>G (p.Ser187Arg) | |
| 9 | g.133539807C>T | CA375402439 | ADAMTSL2 | c.346C>T (p.Gln116Ter) c.673C>T (p.Gln225Ter) c.381C>T (p.Ser127=) c.234C>T (p.Ser78=) c.412C>T (p.Gln138Ter) c.561C>T (p.Ser187=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.133539808A>C | CA375402446 | ADAMTSL2 | c.347A>C (p.Gln116Pro) c.674A>C (p.Gln225Pro) c.382A>C (p.Ser128Arg) c.235A>C (p.Ser79Arg) c.413A>C (p.Gln138Pro) c.562A>C (p.Ser188Arg) | |
| 9 | g.133539808A>G | CA375402452 | ADAMTSL2 | c.347A>G (p.Gln116Arg) c.674A>G (p.Gln225Arg) c.382A>G (p.Ser128Gly) c.235A>G (p.Ser79Gly) c.413A>G (p.Gln138Arg) c.562A>G (p.Ser188Gly) | |
| 9 | g.133539808A>T | CA375402449 | ADAMTSL2 | c.347A>T (p.Gln116Leu) c.674A>T (p.Gln225Leu) c.382A>T (p.Ser128Cys) c.235A>T (p.Ser79Cys) c.413A>T (p.Gln138Leu) c.562A>T (p.Ser188Cys) | |
| 9 | g.133539809G>A | CA467616819 | ADAMTSL2 | c.348G>A (p.Gln116=) c.675G>A (p.Gln225=) c.383G>A (p.Ser128Asn) c.236G>A (p.Ser79Asn) c.414G>A (p.Gln138=) c.563G>A (p.Ser188Asn) | |
| 9 | g.133539809G>C | CA375402457 | ADAMTSL2 | c.348G>C (p.Gln116His) c.675G>C (p.Gln225His) c.383G>C (p.Ser128Thr) c.236G>C (p.Ser79Thr) c.414G>C (p.Gln138His) c.563G>C (p.Ser188Thr) | gnomAD v4 |
| 9 | g.133539809G>T | CA375402458 | ADAMTSL2 | c.348G>T (p.Gln116His) c.675G>T (p.Gln225His) c.383G>T (p.Ser128Ile) c.236G>T (p.Ser79Ile) c.414G>T (p.Gln138His) c.563G>T (p.Ser188Ile) | gnomAD v4 |
| 9 | g.133539810T>A | CA375402459 | ADAMTSL2 | c.349T>A (p.Cys117Ser) c.676T>A (p.Cys226Ser) c.384T>A (p.Ser128Arg) c.237T>A (p.Ser79Arg) c.415T>A (p.Cys139Ser) c.564T>A (p.Ser188Arg) | |
| 9 | g.133539810T>C | CA375402460 | ADAMTSL2 | c.349T>C (p.Cys117Arg) c.676T>C (p.Cys226Arg) c.384T>C (p.Ser128=) c.237T>C (p.Ser79=) c.415T>C (p.Cys139Arg) c.564T>C (p.Ser188=) | |
| 9 | g.133539810T>G | CA375402461 | ADAMTSL2 | c.349T>G (p.Cys117Gly) c.676T>G (p.Cys226Gly) c.384T>G (p.Ser128Arg) c.237T>G (p.Ser79Arg) c.415T>G (p.Cys139Gly) c.564T>G (p.Ser188Arg) | |
| 9 | g.133539811G>A | CA375402464 | ADAMTSL2 | c.350G>A (p.Cys117Tyr) c.677G>A (p.Cys226Tyr) c.385G>A (p.Ala129Thr) c.238G>A (p.Ala80Thr) c.416G>A (p.Cys139Tyr) c.565G>A (p.Ala189Thr) | gnomAD v4 |
| 9 | g.133539811G>C | CA375402466 | ADAMTSL2 | c.350G>C (p.Cys117Ser) c.677G>C (p.Cys226Ser) c.385G>C (p.Ala129Pro) c.238G>C (p.Ala80Pro) c.416G>C (p.Cys139Ser) c.565G>C (p.Ala189Pro) | |
| 9 | g.133539811G>T | CA375402468 | ADAMTSL2 | c.350G>T (p.Cys117Phe) c.677G>T (p.Cys226Phe) c.385G>T (p.Ala129Ser) c.238G>T (p.Ala80Ser) c.416G>T (p.Cys139Phe) c.565G>T (p.Ala189Ser) | |
| 9 | g.133539812C>A | CA375402470 | ADAMTSL2 | c.351C>A (p.Cys117Ter) c.678C>A (p.Cys226Ter) c.386C>A (p.Ala129Glu) c.239C>A (p.Ala80Glu) c.417C>A (p.Cys139Ter) c.566C>A (p.Ala189Glu) | |
| 9 | g.133539812C= | CA1882727668 | ADAMTSL2 | c.351C= (p.Cys117=) c.678C= (p.Cys226=) c.386C= (p.Ala129=) c.239C= (p.Ala80=) c.417C= (p.Cys139=) c.566C= (p.Ala189=) | |
| 9 | g.133539812C>G | CA375402473 | ADAMTSL2 | c.351C>G (p.Cys117Trp) c.678C>G (p.Cys226Trp) c.386C>G (p.Ala129Gly) c.239C>G (p.Ala80Gly) c.417C>G (p.Cys139Trp) c.566C>G (p.Ala189Gly) | |
| 9 | g.133539812C>T | CA5312581 | ADAMTSL2 | c.351C>T (p.Cys117=) c.678C>T (p.Cys226=) c.386C>T (p.Ala129Val) c.239C>T (p.Ala80Val) c.417C>T (p.Cys139=) c.566C>T (p.Ala189Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133539813G>A | CA5312582 | ADAMTSL2 | c.352G>A (p.Val118Ile) c.679G>A (p.Val227Ile) c.387G>A (p.Ala129=) c.240G>A (p.Ala80=) c.418G>A (p.Val140Ile) c.567G>A (p.Ala189=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133539813G>C | CA375402480 | ADAMTSL2 | c.352G>C (p.Val118Leu) c.679G>C (p.Val227Leu) c.387G>C (p.Ala129=) c.240G>C (p.Ala80=) c.418G>C (p.Val140Leu) c.567G>C (p.Ala189=) | |
| 9 | g.133539813G= | CA1882727672 | ADAMTSL2 | c.352G= (p.Val118=) c.679G= (p.Val227=) c.387G= (p.Ala129=) c.240G= (p.Ala80=) c.418G= (p.Val140=) c.567G= (p.Ala189=) | |
| 9 | g.133539813G>T | CA375402478 | ADAMTSL2 | c.352G>T (p.Val118Phe) c.679G>T (p.Val227Phe) c.387G>T (p.Ala129=) c.240G>T (p.Ala80=) c.418G>T (p.Val140Phe) c.567G>T (p.Ala189=) | |
| 9 | g.133539814T>A | CA375402486 | ADAMTSL2 | c.353T>A (p.Val118Asp) c.680T>A (p.Val227Asp) c.388T>A (p.Ser130Thr) c.241T>A (p.Ser81Thr) c.419T>A (p.Val140Asp) c.568T>A (p.Ser190Thr) | |
| 9 | g.133539814T>C | CA5312583 | ADAMTSL2 | c.353T>C (p.Val118Ala) c.680T>C (p.Val227Ala) c.388T>C (p.Ser130Pro) c.241T>C (p.Ser81Pro) c.419T>C (p.Val140Ala) c.568T>C (p.Ser190Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133539814T>G | CA375402490 | ADAMTSL2 | c.353T>G (p.Val118Gly) c.680T>G (p.Val227Gly) c.388T>G (p.Ser130Ala) c.241T>G (p.Ser81Ala) c.419T>G (p.Val140Gly) c.568T>G (p.Ser190Ala) |