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 |
|---|---|---|---|---|---|
| 13 | g.108208742A= | CA2117793888 | LIG4 | c.2326T= (p.Leu776=) c.2527T= (p.Leu843=) c.2563T= (p.Leu855=) c.2539T= (p.Leu847=) | |
| 13 | g.108208742A>C | CA388612680 | LIG4 | c.2326T>G (p.Leu776Val) c.2527T>G (p.Leu843Val) c.2563T>G (p.Leu855Val) c.2539T>G (p.Leu847Val) | |
| 13 | g.108208742A>G | CA7043476 | LIG4 | c.2326T>C (p.Leu776=) c.2527T>C (p.Leu843=) c.2563T>C (p.Leu855=) c.2539T>C (p.Leu847=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.108208742A>T | CA388612679 | LIG4 | c.2326T>A (p.Leu776Met) c.2527T>A (p.Leu843Met) c.2563T>A (p.Leu855Met) c.2539T>A (p.Leu847Met) | |
| 13 | g.108208743G>A | CA484974964 | LIG4 | c.2325C>T (p.Ala775=) c.2526C>T (p.Ala842=) c.2562C>T (p.Ala854=) c.2538C>T (p.Ala846=) | |
| 13 | g.108208743G>C | CA484974965 | LIG4 | c.2325C>G (p.Ala775=) c.2526C>G (p.Ala842=) c.2562C>G (p.Ala854=) c.2538C>G (p.Ala846=) | |
| 13 | g.108208743G>T | CA484974966 | LIG4 | c.2325C>A (p.Ala775=) c.2526C>A (p.Ala842=) c.2562C>A (p.Ala854=) c.2538C>A (p.Ala846=) | |
| 13 | g.108208744G>A | CA388612681 | LIG4 | c.2324C>T (p.Ala775Val) c.2525C>T (p.Ala842Val) c.2561C>T (p.Ala854Val) c.2537C>T (p.Ala846Val) | |
| 13 | g.108208744G>C | CA388612682 | LIG4 | c.2324C>G (p.Ala775Gly) c.2525C>G (p.Ala842Gly) c.2561C>G (p.Ala854Gly) c.2537C>G (p.Ala846Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.108208744G= | CA2117793889 | LIG4 | c.2324C= (p.Ala775=) c.2525C= (p.Ala842=) c.2561C= (p.Ala854=) c.2537C= (p.Ala846=) | |
| 13 | g.108208744G>T | CA7043477 | LIG4 | c.2324C>A (p.Ala775Asp) c.2525C>A (p.Ala842Asp) c.2561C>A (p.Ala854Asp) c.2537C>A (p.Ala846Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.108208745C>A | CA388612683 | LIG4 | c.2323G>T (p.Ala775Ser) c.2524G>T (p.Ala842Ser) c.2560G>T (p.Ala854Ser) c.2536G>T (p.Ala846Ser) | |
| 13 | g.108208745C>G | CA388612685 | LIG4 | c.2323G>C (p.Ala775Pro) c.2524G>C (p.Ala842Pro) c.2560G>C (p.Ala854Pro) c.2536G>C (p.Ala846Pro) | |
| 13 | g.108208745C>T | CA388612686 | LIG4 | c.2323G>A (p.Ala775Thr) c.2524G>A (p.Ala842Thr) c.2560G>A (p.Ala854Thr) c.2536G>A (p.Ala846Thr) | gnomAD v4 |
| 13 | g.108208746T>A | CA388612687 | LIG4 | c.2322A>T (p.Lys774Asn) c.2523A>T (p.Lys841Asn) c.2559A>T (p.Lys853Asn) c.2535A>T (p.Lys845Asn) | |
| 13 | g.108208746T>C | CA484974968 | LIG4 | c.2322A>G (p.Lys774=) c.2523A>G (p.Lys841=) c.2559A>G (p.Lys853=) c.2535A>G (p.Lys845=) | |
| 13 | g.108208746T>G | CA388612688 | LIG4 | c.2322A>C (p.Lys774Asn) c.2523A>C (p.Lys841Asn) c.2559A>C (p.Lys853Asn) c.2535A>C (p.Lys845Asn) | |
| 13 | g.108208747T>A | CA388612690 | LIG4 | c.2321A>T (p.Lys774Ile) c.2522A>T (p.Lys841Ile) c.2558A>T (p.Lys853Ile) c.2534A>T (p.Lys845Ile) | |
| 13 | g.108208747T>C | CA388612692 | LIG4 | c.2321A>G (p.Lys774Arg) c.2522A>G (p.Lys841Arg) c.2558A>G (p.Lys853Arg) c.2534A>G (p.Lys845Arg) | |
| 13 | g.108208747T>G | CA388612693 | LIG4 | c.2321A>C (p.Lys774Thr) c.2522A>C (p.Lys841Thr) c.2558A>C (p.Lys853Thr) c.2534A>C (p.Lys845Thr) | gnomAD v4 |
| 13 | g.108208748T>A | CA388612695 | LIG4 | c.2320A>T (p.Lys774Ter) c.2521A>T (p.Lys841Ter) c.2557A>T (p.Lys853Ter) c.2533A>T (p.Lys845Ter) | |
| 13 | g.108208748T>C | CA388612697 | LIG4 | c.2320A>G (p.Lys774Glu) c.2521A>G (p.Lys841Glu) c.2557A>G (p.Lys853Glu) c.2533A>G (p.Lys845Glu) | dbSNP |
| 13 | g.108208748T>G | CA388612694 | LIG4 | c.2320A>C (p.Lys774Gln) c.2521A>C (p.Lys841Gln) c.2557A>C (p.Lys853Gln) c.2533A>C (p.Lys845Gln) | |
| 13 | g.108208748T= | CA2117793890 | LIG4 | c.2320A= (p.Lys774=) c.2521A= (p.Lys841=) c.2557A= (p.Lys853=) c.2533A= (p.Lys845=) | |
| 13 | g.108208749A= | CA2117793891 | LIG4 | c.2319T= (p.Ile773=) c.2520T= (p.Ile840=) c.2556T= (p.Ile852=) c.2532T= (p.Ile844=) | |
| 13 | g.108208749A>C | CA388612699 | LIG4 | c.2319T>G (p.Ile773Met) c.2520T>G (p.Ile840Met) c.2556T>G (p.Ile852Met) c.2532T>G (p.Ile844Met) | gnomAD v4 |
| 13 | g.108208749A>G | CA256179076 | LIG4 | c.2319T>C (p.Ile773=) c.2520T>C (p.Ile840=) c.2556T>C (p.Ile852=) c.2532T>C (p.Ile844=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.108208749A>T | CA484974969 | LIG4 | c.2319T>A (p.Ile773=) c.2520T>A (p.Ile840=) c.2556T>A (p.Ile852=) c.2532T>A (p.Ile844=) | |
| 13 | g.108208750A>C | CA388612704 | LIG4 | c.2318T>G (p.Ile773Ser) c.2519T>G (p.Ile840Ser) c.2555T>G (p.Ile852Ser) c.2531T>G (p.Ile844Ser) | |
| 13 | g.108208750A>G | CA388612715 | LIG4 | c.2318T>C (p.Ile773Thr) c.2519T>C (p.Ile840Thr) c.2555T>C (p.Ile852Thr) c.2531T>C (p.Ile844Thr) | ClinVar dbSNP |
| 13 | g.108208750A>T | CA388612720 | LIG4 | c.2318T>A (p.Ile773Asn) c.2519T>A (p.Ile840Asn) c.2555T>A (p.Ile852Asn) c.2531T>A (p.Ile844Asn) | |
| 13 | g.108208751T>A | CA388612725 | LIG4 | c.2317A>T (p.Ile773Phe) c.2518A>T (p.Ile840Phe) c.2554A>T (p.Ile852Phe) c.2530A>T (p.Ile844Phe) | |
| 13 | g.108208751T>C | CA7043478 | LIG4 | c.2317A>G (p.Ile773Val) c.2518A>G (p.Ile840Val) c.2554A>G (p.Ile852Val) c.2530A>G (p.Ile844Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.108208751T>G | CA388612723 | LIG4 | c.2317A>C (p.Ile773Leu) c.2518A>C (p.Ile840Leu) c.2554A>C (p.Ile852Leu) c.2530A>C (p.Ile844Leu) | |
| 13 | g.108208751T= | CA2117793892 | LIG4 | c.2317A= (p.Ile773=) c.2518A= (p.Ile840=) c.2554A= (p.Ile852=) c.2530A= (p.Ile844=) | |
| 13 | g.108208752A>C | CA484974971 | LIG4 | c.2316T>G (p.Ala772=) c.2517T>G (p.Ala839=) c.2553T>G (p.Ala851=) c.2529T>G (p.Ala843=) | |
| 13 | g.108208752A>G | CA484974972 | LIG4 | c.2316T>C (p.Ala772=) c.2517T>C (p.Ala839=) c.2553T>C (p.Ala851=) c.2529T>C (p.Ala843=) | ClinVar |
| 13 | g.108208752A>T | CA484974974 | LIG4 | c.2316T>A (p.Ala772=) c.2517T>A (p.Ala839=) c.2553T>A (p.Ala851=) c.2529T>A (p.Ala843=) | |
| 13 | g.108208753G>A | CA388612728 | LIG4 | c.2315C>T (p.Ala772Val) c.2516C>T (p.Ala839Val) c.2552C>T (p.Ala851Val) c.2528C>T (p.Ala843Val) | |
| 13 | g.108208753G>C | CA388612729 | LIG4 | c.2315C>G (p.Ala772Gly) c.2516C>G (p.Ala839Gly) c.2552C>G (p.Ala851Gly) c.2528C>G (p.Ala843Gly) | |
| 13 | g.108208753G>T | CA388612736 | LIG4 | c.2315C>A (p.Ala772Asp) c.2516C>A (p.Ala839Asp) c.2552C>A (p.Ala851Asp) c.2528C>A (p.Ala843Asp) | |
| 13 | g.108208754C>A | CA388612738 | LIG4 | c.2314G>T (p.Ala772Ser) c.2515G>T (p.Ala839Ser) c.2551G>T (p.Ala851Ser) c.2527G>T (p.Ala843Ser) | |
| 13 | g.108208754C= | CA2117793893 | LIG4 | c.2314G= (p.Ala772=) c.2515G= (p.Ala839=) c.2551G= (p.Ala851=) c.2527G= (p.Ala843=) | |
| 13 | g.108208754C>G | CA388612739 | LIG4 | c.2314G>C (p.Ala772Pro) c.2515G>C (p.Ala839Pro) c.2551G>C (p.Ala851Pro) c.2527G>C (p.Ala843Pro) | |
| 13 | g.108208754C>T | CA388612740 | LIG4 | c.2314G>A (p.Ala772Thr) c.2515G>A (p.Ala839Thr) c.2551G>A (p.Ala851Thr) c.2527G>A (p.Ala843Thr) | dbSNP |
| 13 | g.108208755T>A | CA388612745 | LIG4 | c.2313A>T (p.Leu771Phe) c.2514A>T (p.Leu838Phe) c.2550A>T (p.Leu850Phe) c.2526A>T (p.Leu842Phe) | |
| 13 | g.108208755T>C | CA484974977 | LIG4 | c.2313A>G (p.Leu771=) c.2514A>G (p.Leu838=) c.2550A>G (p.Leu850=) c.2526A>G (p.Leu842=) | |
| 13 | g.108208755T>G | CA388612742 | LIG4 | c.2313A>C (p.Leu771Phe) c.2514A>C (p.Leu838Phe) c.2550A>C (p.Leu850Phe) c.2526A>C (p.Leu842Phe) | |
| 13 | g.108208756A>C | CA388612749 | LIG4 | c.2312T>G (p.Leu771Ter) c.2513T>G (p.Leu838Ter) c.2549T>G (p.Leu850Ter) c.2525T>G (p.Leu842Ter) | |
| 13 | g.108208756A>G | CA388612753 | LIG4 | c.2312T>C (p.Leu771Ser) c.2513T>C (p.Leu838Ser) c.2549T>C (p.Leu850Ser) c.2525T>C (p.Leu842Ser) |