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.108210336A= | CA2117794594 | LIG4 | c.732T= (p.Leu244=) c.933T= (p.Leu311=) c.969T= (p.Leu323=) c.945T= (p.Leu315=) | |
| 13 | g.108210336A>C | CA484975622 | LIG4 | c.732T>G (p.Leu244=) c.933T>G (p.Leu311=) c.969T>G (p.Leu323=) c.945T>G (p.Leu315=) | |
| 13 | g.108210336A>G | CA484975626 | LIG4 | c.732T>C (p.Leu244=) c.933T>C (p.Leu311=) c.969T>C (p.Leu323=) c.945T>C (p.Leu315=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.108210336A>T | CA484975624 | LIG4 | c.732T>A (p.Leu244=) c.933T>A (p.Leu311=) c.969T>A (p.Leu323=) c.945T>A (p.Leu315=) | |
| 13 | g.108210336_108210339dup | CA7043774 | LIG4 | c.729_732dup (p.Thr245SerfsTer7) c.930_933dup (p.Thr312SerfsTer7) c.966_969dup (p.Thr324SerfsTer7) c.942_945dup (p.Thr316SerfsTer7) | dbSNP ExAC gnomAD v2 |
| 13 | g.108210337A>C | CA388619258 | LIG4 | c.731T>G (p.Leu244Arg) c.932T>G (p.Leu311Arg) c.968T>G (p.Leu323Arg) c.944T>G (p.Leu315Arg) | |
| 13 | g.108210337A>G | CA388619260 | LIG4 | c.731T>C (p.Leu244Pro) c.932T>C (p.Leu311Pro) c.968T>C (p.Leu323Pro) c.944T>C (p.Leu315Pro) | |
| 13 | g.108210337A>T | CA388619261 | LIG4 | c.731T>A (p.Leu244His) c.932T>A (p.Leu311His) c.968T>A (p.Leu323His) c.944T>A (p.Leu315His) | |
| 13 | g.108210338G>A | CA388619262 | LIG4 | c.730C>T (p.Leu244Phe) c.931C>T (p.Leu311Phe) c.967C>T (p.Leu323Phe) c.943C>T (p.Leu315Phe) | |
| 13 | g.108210338G>C | CA388619263 | LIG4 | c.730C>G (p.Leu244Val) c.931C>G (p.Leu311Val) c.967C>G (p.Leu323Val) c.943C>G (p.Leu315Val) | |
| 13 | g.108210338G>T | CA388619264 | LIG4 | c.730C>A (p.Leu244Ile) c.931C>A (p.Leu311Ile) c.967C>A (p.Leu323Ile) c.943C>A (p.Leu315Ile) | gnomAD v4 |
| 13 | g.108210339A>C | CA484975633 | LIG4 | c.729T>G (p.Ser243=) c.930T>G (p.Ser310=) c.966T>G (p.Ser322=) c.942T>G (p.Ser314=) | |
| 13 | g.108210339A>G | CA484975634 | LIG4 | c.729T>C (p.Ser243=) c.930T>C (p.Ser310=) c.966T>C (p.Ser322=) c.942T>C (p.Ser314=) | |
| 13 | g.108210339A>T | CA484975635 | LIG4 | c.729T>A (p.Ser243=) c.930T>A (p.Ser310=) c.966T>A (p.Ser322=) c.942T>A (p.Ser314=) | |
| 13 | g.108210340G>A | CA388619265 | LIG4 | c.728C>T (p.Ser243Phe) c.929C>T (p.Ser310Phe) c.965C>T (p.Ser322Phe) c.941C>T (p.Ser314Phe) | |
| 13 | g.108210340G>C | CA388619267 | LIG4 | c.728C>G (p.Ser243Cys) c.929C>G (p.Ser310Cys) c.965C>G (p.Ser322Cys) c.941C>G (p.Ser314Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.108210340G= | CA2117794595 | LIG4 | c.728C= (p.Ser243=) c.929C= (p.Ser310=) c.965C= (p.Ser322=) c.941C= (p.Ser314=) | |
| 13 | g.108210340G>T | CA388619268 | LIG4 | c.728C>A (p.Ser243Tyr) c.929C>A (p.Ser310Tyr) c.965C>A (p.Ser322Tyr) c.941C>A (p.Ser314Tyr) | |
| 13 | g.108210341A>C | CA388619270 | LIG4 | c.727T>G (p.Ser243Ala) c.928T>G (p.Ser310Ala) c.964T>G (p.Ser322Ala) c.940T>G (p.Ser314Ala) | |
| 13 | g.108210341A>G | CA388619275 | LIG4 | c.727T>C (p.Ser243Pro) c.928T>C (p.Ser310Pro) c.964T>C (p.Ser322Pro) c.940T>C (p.Ser314Pro) | |
| 13 | g.108210341A>T | CA388619276 | LIG4 | c.727T>A (p.Ser243Thr) c.928T>A (p.Ser310Thr) c.964T>A (p.Ser322Thr) c.940T>A (p.Ser314Thr) | |
| 13 | g.108210342A= | CA2117794596 | LIG4 | c.726T= (p.Gly242=) c.927T= (p.Gly309=) c.963T= (p.Gly321=) c.939T= (p.Gly313=) | |
| 13 | g.108210342A>C | CA484975637 | LIG4 | c.726T>G (p.Gly242=) c.927T>G (p.Gly309=) c.963T>G (p.Gly321=) c.939T>G (p.Gly313=) | |
| 13 | g.108210342A>G | CA484975638 | LIG4 | c.726T>C (p.Gly242=) c.927T>C (p.Gly309=) c.963T>C (p.Gly321=) c.939T>C (p.Gly313=) | |
| 13 | g.108210342A>T | CA484975639 | LIG4 | c.726T>A (p.Gly242=) c.927T>A (p.Gly309=) c.963T>A (p.Gly321=) c.939T>A (p.Gly313=) | dbSNP gnomAD v2 |
| 13 | g.108210343C>A | CA388619280 | LIG4 | c.725G>T (p.Gly242Val) c.926G>T (p.Gly309Val) c.962G>T (p.Gly321Val) c.938G>T (p.Gly313Val) | COSMIC |
| 13 | g.108210343C>G | CA388619277 | LIG4 | c.725G>C (p.Gly242Ala) c.926G>C (p.Gly309Ala) c.962G>C (p.Gly321Ala) c.938G>C (p.Gly313Ala) | |
| 13 | g.108210343C>T | CA388619278 | LIG4 | c.725G>A (p.Gly242Asp) c.926G>A (p.Gly309Asp) c.962G>A (p.Gly321Asp) c.938G>A (p.Gly313Asp) | |
| 13 | g.108210344C>A | CA388619281 | LIG4 | c.724G>T (p.Gly242Cys) c.925G>T (p.Gly309Cys) c.961G>T (p.Gly321Cys) c.937G>T (p.Gly313Cys) | |
| 13 | g.108210344C>G | CA388619283 | LIG4 | c.724G>C (p.Gly242Arg) c.925G>C (p.Gly309Arg) c.961G>C (p.Gly321Arg) c.937G>C (p.Gly313Arg) | |
| 13 | g.108210344C>T | CA388619285 | LIG4 | c.724G>A (p.Gly242Ser) c.925G>A (p.Gly309Ser) c.961G>A (p.Gly321Ser) c.937G>A (p.Gly313Ser) | |
| 13 | g.108210345T>A | CA388619286 | LIG4 | c.723A>T (p.Glu241Asp) c.924A>T (p.Glu308Asp) c.960A>T (p.Glu320Asp) c.936A>T (p.Glu312Asp) | |
| 13 | g.108210345T>C | CA484975642 | LIG4 | c.723A>G (p.Glu241=) c.924A>G (p.Glu308=) c.960A>G (p.Glu320=) c.936A>G (p.Glu312=) | |
| 13 | g.108210345T>G | CA388619287 | LIG4 | c.723A>C (p.Glu241Asp) c.924A>C (p.Glu308Asp) c.960A>C (p.Glu320Asp) c.936A>C (p.Glu312Asp) | |
| 13 | g.108210346T>A | CA388619288 | LIG4 | c.722A>T (p.Glu241Val) c.923A>T (p.Glu308Val) c.959A>T (p.Glu320Val) c.935A>T (p.Glu312Val) | |
| 13 | g.108210346T>C | CA388619289 | LIG4 | c.722A>G (p.Glu241Gly) c.923A>G (p.Glu308Gly) c.959A>G (p.Glu320Gly) c.935A>G (p.Glu312Gly) | |
| 13 | g.108210346T>G | CA388619291 | LIG4 | c.722A>C (p.Glu241Ala) c.923A>C (p.Glu308Ala) c.959A>C (p.Glu320Ala) c.935A>C (p.Glu312Ala) | |
| 13 | g.108210347C>A | CA388619292 | LIG4 | c.721G>T (p.Glu241Ter) c.922G>T (p.Glu308Ter) c.958G>T (p.Glu320Ter) c.934G>T (p.Glu312Ter) | |
| 13 | g.108210347C>G | CA388619294 | LIG4 | c.721G>C (p.Glu241Gln) c.922G>C (p.Glu308Gln) c.958G>C (p.Glu320Gln) c.934G>C (p.Glu312Gln) | |
| 13 | g.108210347C>T | CA388619295 | LIG4 | c.721G>A (p.Glu241Lys) c.922G>A (p.Glu308Lys) c.958G>A (p.Glu320Lys) c.934G>A (p.Glu312Lys) | gnomAD v4 |
| 13 | g.108210348A= | CA2117794597 | LIG4 | c.720T= (p.Thr240=) c.921T= (p.Thr307=) c.957T= (p.Thr319=) c.933T= (p.Thr311=) | |
| 13 | g.108210348A>C | CA7043775 | LIG4 | c.720T>G (p.Thr240=) c.921T>G (p.Thr307=) c.957T>G (p.Thr319=) c.933T>G (p.Thr311=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.108210348A>G | CA484975647 | LIG4 | c.720T>C (p.Thr240=) c.921T>C (p.Thr307=) c.957T>C (p.Thr319=) c.933T>C (p.Thr311=) | dbSNP |
| 13 | g.108210348A>T | CA484975649 | LIG4 | c.720T>A (p.Thr240=) c.921T>A (p.Thr307=) c.957T>A (p.Thr319=) c.933T>A (p.Thr311=) | |
| 13 | g.108210349G>A | CA388619297 | LIG4 | c.719C>T (p.Thr240Ile) c.920C>T (p.Thr307Ile) c.956C>T (p.Thr319Ile) c.932C>T (p.Thr311Ile) | |
| 13 | g.108210349G>C | CA388619299 | LIG4 | c.719C>G (p.Thr240Ser) c.920C>G (p.Thr307Ser) c.956C>G (p.Thr319Ser) c.932C>G (p.Thr311Ser) | |
| 13 | g.108210349G>T | CA388619298 | LIG4 | c.719C>A (p.Thr240Asn) c.920C>A (p.Thr307Asn) c.956C>A (p.Thr319Asn) c.932C>A (p.Thr311Asn) | |
| 13 | g.108210350T>A | CA388619300 | LIG4 | c.718A>T (p.Thr240Ser) c.919A>T (p.Thr307Ser) c.955A>T (p.Thr319Ser) c.931A>T (p.Thr311Ser) | |
| 13 | g.108210350T>C | CA7043776 | LIG4 | c.718A>G (p.Thr240Ala) c.919A>G (p.Thr307Ala) c.955A>G (p.Thr319Ala) c.931A>G (p.Thr311Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.108210350T>G | CA7043777 | LIG4 | c.718A>C (p.Thr240Pro) c.919A>C (p.Thr307Pro) c.955A>C (p.Thr319Pro) c.931A>C (p.Thr311Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |