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 |
|---|---|---|---|---|---|
| 2 | g.108929199_108929380del | CA2586969751 | EDAR,RANBP2 | c.175_356del c.226_407del c.319_500del c.8370+156153_8370+156334del (n.8370+156153_8370+156334del) | |
| 2 | g.108929207C>A | CA348115553 | EDAR,RANBP2 | c.347G>T (p.Cys116Phe) c.398G>T (p.Cys133Phe) c.491G>T (p.Cys164Phe) c.8370+156161C>A (n.8370+156161C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.108929207C= | CA1278368511 | EDAR,RANBP2 | c.347G= (p.Cys116=) c.398G= (p.Cys133=) c.491G= (p.Cys164=) c.8370+156161C= (n.8370+156161C=) | |
| 2 | g.108929207C>G | CA348115554 | EDAR,RANBP2 | c.347G>C (p.Cys116Ser) c.398G>C (p.Cys133Ser) c.491G>C (p.Cys164Ser) c.8370+156161C>G (n.8370+156161C>G) | gnomAD v4 |
| 2 | g.108929207C>T | CA348115555 | EDAR,RANBP2 | c.347G>A (p.Cys116Tyr) c.398G>A (p.Cys133Tyr) c.491G>A (p.Cys164Tyr) c.8370+156161C>T (n.8370+156161C>T) | COSMIC COSMIC |
| 2 | g.108929208A= | CA1278368512 | EDAR,RANBP2 | c.346T= (p.Cys116=) c.397T= (p.Cys133=) c.490T= (p.Cys164=) c.8370+156162A= (n.8370+156162A=) | |
| 2 | g.108929208A>C | CA348115556 | EDAR,RANBP2 | c.346T>G (p.Cys116Gly) c.397T>G (p.Cys133Gly) c.490T>G (p.Cys164Gly) c.8370+156162A>C (n.8370+156162A>C) | |
| 2 | g.108929208A>G | CA54012141 | EDAR,RANBP2 | c.346T>C (p.Cys116Arg) c.397T>C (p.Cys133Arg) c.490T>C (p.Cys164Arg) c.8370+156162A>G (n.8370+156162A>G) | dbSNP gnomAD v4 |
| 2 | g.108929208A>T | CA348115557 | EDAR,RANBP2 | c.346T>A (p.Cys116Ser) c.397T>A (p.Cys133Ser) c.490T>A (p.Cys164Ser) c.8370+156162A>T (n.8370+156162A>T) | |
| 2 | g.108929209A>C | CA428086803 | EDAR,RANBP2 | c.345T>G (p.Pro115=) c.396T>G (p.Pro132=) c.489T>G (p.Pro163=) c.8370+156163A>C (n.8370+156163A>C) | |
| 2 | g.108929209A>G | CA428086804 | EDAR,RANBP2 | c.345T>C (p.Pro115=) c.396T>C (p.Pro132=) c.489T>C (p.Pro163=) c.8370+156163A>G (n.8370+156163A>G) | |
| 2 | g.108929209A>T | CA428086805 | EDAR,RANBP2 | c.345T>A (p.Pro115=) c.396T>A (p.Pro132=) c.489T>A (p.Pro163=) c.8370+156163A>T (n.8370+156163A>T) | |
| 2 | g.108929209_108929210delinsAG | CA1278368513 | EDAR,RANBP2 | c.344_345delinsCT (p.Pro115=) c.395_396delinsCT (p.Pro132=) c.488_489delinsCT (p.Pro163=) c.8370+156163_8370+156164delinsAG (n.8370+156163_8370+156164delinsAG) | |
| 2 | g.108929210G>A | CA1825123 | EDAR,RANBP2 | c.344C>T (p.Pro115Leu) c.395C>T (p.Pro132Leu) c.488C>T (p.Pro163Leu) c.8370+156164G>A (n.8370+156164G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108929210G>C | CA348115558 | EDAR,RANBP2 | c.344C>G (p.Pro115Arg) c.395C>G (p.Pro132Arg) c.488C>G (p.Pro163Arg) c.8370+156164G>C (n.8370+156164G>C) | |
| 2 | g.108929210G= | CA1278368514 | EDAR,RANBP2 | c.344C= (p.Pro115=) c.395C= (p.Pro132=) c.488C= (p.Pro163=) c.8370+156164G= (n.8370+156164G=) | |
| 2 | g.108929210G>T | CA348115559 | EDAR,RANBP2 | c.344C>A (p.Pro115His) c.395C>A (p.Pro132His) c.488C>A (p.Pro163His) c.8370+156164G>T (n.8370+156164G>T) | |
| 2 | g.108929212del | CA1825122 | EDAR,RANBP2 | c.344del (p.Pro115LeufsTer?) c.395del (p.Pro132LeufsTer?) c.488del (p.Pro163LeufsTer?) c.8370+156166del (n.8370+156166del) | dbSNP ExAC |
| 2 | g.108929211G>A | CA348115560 | EDAR,RANBP2 | c.343C>T (p.Pro115Ser) c.394C>T (p.Pro132Ser) c.487C>T (p.Pro163Ser) c.8370+156165G>A (n.8370+156165G>A) | dbSNP gnomAD v4 |
| 2 | g.108929211G>C | CA1825124 | EDAR,RANBP2 | c.343C>G (p.Pro115Ala) c.394C>G (p.Pro132Ala) c.487C>G (p.Pro163Ala) c.8370+156165G>C (n.8370+156165G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108929211G= | CA1278368515 | EDAR,RANBP2 | c.343C= (p.Pro115=) c.394C= (p.Pro132=) c.487C= (p.Pro163=) c.8370+156165G= (n.8370+156165G=) | |
| 2 | g.108929211G>T | CA348115561 | EDAR,RANBP2 | c.343C>A (p.Pro115Thr) c.394C>A (p.Pro132Thr) c.487C>A (p.Pro163Thr) c.8370+156165G>T (n.8370+156165G>T) | |
| 2 | g.108929212G>A | CA54012142 | EDAR,RANBP2 | c.342C>T (p.Gly114=) c.393C>T (p.Gly131=) c.486C>T (p.Gly162=) c.8370+156166G>A (n.8370+156166G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.108929212G>C | CA428086806 | EDAR,RANBP2 | c.342C>G (p.Gly114=) c.393C>G (p.Gly131=) c.486C>G (p.Gly162=) c.8370+156166G>C (n.8370+156166G>C) | |
| 2 | g.108929212G= | CA1278368516 | EDAR,RANBP2 | c.342C= (p.Gly114=) c.393C= (p.Gly131=) c.486C= (p.Gly162=) c.8370+156166G= (n.8370+156166G=) | |
| 2 | g.108929212G>T | CA428086807 | EDAR,RANBP2 | c.342C>A (p.Gly114=) c.393C>A (p.Gly131=) c.486C>A (p.Gly162=) c.8370+156166G>T (n.8370+156166G>T) | |
| 2 | g.108929213C>A | CA348115564 | EDAR,RANBP2 | c.341G>T (p.Gly114Val) c.392G>T (p.Gly131Val) c.485G>T (p.Gly162Val) c.8370+156167C>A (n.8370+156167C>A) | |
| 2 | g.108929213C>G | CA348115562 | EDAR,RANBP2 | c.341G>C (p.Gly114Ala) c.392G>C (p.Gly131Ala) c.485G>C (p.Gly162Ala) c.8370+156167C>G (n.8370+156167C>G) | |
| 2 | g.108929213C>T | CA348115563 | EDAR,RANBP2 | c.341G>A (p.Gly114Asp) c.392G>A (p.Gly131Asp) c.485G>A (p.Gly162Asp) c.8370+156167C>T (n.8370+156167C>T) | |
| 2 | g.108929214C>A | CA348115565 | EDAR,RANBP2 | c.340G>T (p.Gly114Cys) c.391G>T (p.Gly131Cys) c.484G>T (p.Gly162Cys) c.8370+156168C>A (n.8370+156168C>A) | |
| 2 | g.108929214C>G | CA348115566 | EDAR,RANBP2 | c.340G>C (p.Gly114Arg) c.391G>C (p.Gly131Arg) c.484G>C (p.Gly162Arg) c.8370+156168C>G (n.8370+156168C>G) | |
| 2 | g.108929214C>T | CA348115567 | EDAR,RANBP2 | c.340G>A (p.Gly114Ser) c.391G>A (p.Gly131Ser) c.484G>A (p.Gly162Ser) c.8370+156168C>T (n.8370+156168C>T) | |
| 2 | g.108929215A>C | CA348115568 | EDAR,RANBP2 | c.339T>G (p.Cys113Trp) c.390T>G (p.Cys130Trp) c.483T>G (p.Cys161Trp) c.8370+156169A>C (n.8370+156169A>C) | |
| 2 | g.108929215A>G | CA428086808 | EDAR,RANBP2 | c.339T>C (p.Cys113=) c.390T>C (p.Cys130=) c.483T>C (p.Cys161=) c.8370+156169A>G (n.8370+156169A>G) | |
| 2 | g.108929215A>T | CA348115569 | EDAR,RANBP2 | c.339T>A (p.Cys113Ter) c.390T>A (p.Cys130Ter) c.483T>A (p.Cys161Ter) c.8370+156169A>T (n.8370+156169A>T) | |
| 2 | g.108929216C>A | CA348115570 | EDAR,RANBP2 | c.338G>T (p.Cys113Phe) c.389G>T (p.Cys130Phe) c.482G>T (p.Cys161Phe) c.8370+156170C>A (n.8370+156170C>A) | |
| 2 | g.108929216C= | CA1278368517 | EDAR,RANBP2 | c.338G= (p.Cys113=) c.389G= (p.Cys130=) c.482G= (p.Cys161=) c.8370+156170C= (n.8370+156170C=) | |
| 2 | g.108929216C>G | CA348115571 | EDAR,RANBP2 | c.338G>C (p.Cys113Ser) c.389G>C (p.Cys130Ser) c.482G>C (p.Cys161Ser) c.8370+156170C>G (n.8370+156170C>G) | |
| 2 | g.108929216C>T | CA348115572 | EDAR,RANBP2 | c.338G>A (p.Cys113Tyr) c.389G>A (p.Cys130Tyr) c.482G>A (p.Cys161Tyr) c.8370+156170C>T (n.8370+156170C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108929217A>C | CA348115573 | EDAR,RANBP2 | c.337T>G (p.Cys113Gly) c.388T>G (p.Cys130Gly) c.481T>G (p.Cys161Gly) c.8370+156171A>C (n.8370+156171A>C) | |
| 2 | g.108929217A>G | CA348115574 | EDAR,RANBP2 | c.337T>C (p.Cys113Arg) c.388T>C (p.Cys130Arg) c.481T>C (p.Cys161Arg) c.8370+156171A>G (n.8370+156171A>G) | |
| 2 | g.108929217A>T | CA348115575 | EDAR,RANBP2 | c.337T>A (p.Cys113Ser) c.388T>A (p.Cys130Ser) c.481T>A (p.Cys161Ser) c.8370+156171A>T (n.8370+156171A>T) | |
| 2 | g.108929218C>A | CA348115576 | EDAR,RANBP2 | c.336G>T (p.Glu112Asp) c.387G>T (p.Glu129Asp) c.480G>T (p.Glu160Asp) c.8370+156172C>A (n.8370+156172C>A) | gnomAD v4 |
| 2 | g.108929218C>G | CA348115577 | EDAR,RANBP2 | c.336G>C (p.Glu112Asp) c.387G>C (p.Glu129Asp) c.480G>C (p.Glu160Asp) c.8370+156172C>G (n.8370+156172C>G) | |
| 2 | g.108929218C>T | CA428086809 | EDAR,RANBP2 | c.336G>A (p.Glu112=) c.387G>A (p.Glu129=) c.480G>A (p.Glu160=) c.8370+156172C>T (n.8370+156172C>T) | |
| 2 | g.108929219T>A | CA348115580 | EDAR,RANBP2 | c.335A>T (p.Glu112Val) c.386A>T (p.Glu129Val) c.479A>T (p.Glu160Val) c.8370+156173T>A (n.8370+156173T>A) | |
| 2 | g.108929219T>C | CA348115578 | EDAR,RANBP2 | c.335A>G (p.Glu112Gly) c.386A>G (p.Glu129Gly) c.479A>G (p.Glu160Gly) c.8370+156173T>C (n.8370+156173T>C) | |
| 2 | g.108929219T>G | CA348115579 | EDAR,RANBP2 | c.335A>C (p.Glu112Ala) c.386A>C (p.Glu129Ala) c.479A>C (p.Glu160Ala) c.8370+156173T>G (n.8370+156173T>G) | dbSNP |
| 2 | g.108929219T= | CA1278368518 | EDAR,RANBP2 | c.335A= (p.Glu112=) c.386A= (p.Glu129=) c.479A= (p.Glu160=) c.8370+156173T= (n.8370+156173T=) | |
| 2 | g.108929220C>A | CA348115581 | EDAR,RANBP2 | c.334G>T (p.Glu112Ter) c.385G>T (p.Glu129Ter) c.478G>T (p.Glu160Ter) c.8370+156174C>A (n.8370+156174C>A) | dbSNP gnomAD v2 |