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 |
|---|---|---|---|---|---|
| 1 | g.209790535_209790544del | CA2586968041 | IRF6 | c.1011_1020del (p.Glu338ArgfsTer23) c.*438_*447del (n.*438_*447del) c.*521_*530del (n.*521_*530del) c.726_735del (p.Glu243ArgfsTer23) | |
| 1 | g.209790539C>A | CA252766 | IRF6 | c.1016G>T (p.Arg339Ile) c.*443G>T (n.*443G>T) c.*526G>T (n.*526G>T) c.731G>T (p.Arg244Ile) | ClinVar dbSNP |
| 1 | g.209790539C= | CA1141581366 | IRF6 | c.1016G= (p.Arg339=) c.*443G= (n.*443G=) c.*526G= (n.*526G=) c.731G= (p.Arg244=) | |
| 1 | g.209790539C>G | CA344575256 | IRF6 | c.1016G>C (p.Arg339Thr) c.*443G>C (n.*443G>C) c.*526G>C (n.*526G>C) c.731G>C (p.Arg244Thr) | |
| 1 | g.209790539C>T | CA344575258 | IRF6 | c.1016G>A (p.Arg339Lys) c.*443G>A (n.*443G>A) c.*526G>A (n.*526G>A) c.731G>A (p.Arg244Lys) | COSMIC |
| 1 | g.209790540T>A | CA344575261 | IRF6 | c.1015A>T (p.Arg339Ter) c.*442A>T (n.*442A>T) c.*525A>T (n.*525A>T) c.730A>T (p.Arg244Ter) | |
| 1 | g.209790540T>C | CA344575263 | IRF6 | c.1015A>G (p.Arg339Gly) c.*442A>G (n.*442A>G) c.*525A>G (n.*525A>G) c.730A>G (p.Arg244Gly) | ClinVar dbSNP |
| 1 | g.209790540T>G | CA423143211 | IRF6 | c.1015A>C (p.Arg339=) c.*442A>C (n.*442A>C) c.*525A>C (n.*525A>C) c.730A>C (p.Arg244=) | |
| 1 | g.209790541C>A | CA344575266 | IRF6 | c.1014G>T (p.Glu338Asp) c.*441G>T (n.*441G>T) c.*524G>T (n.*524G>T) c.729G>T (p.Glu243Asp) | |
| 1 | g.209790541C= | CA1144038504 | IRF6 | c.1014G= (p.Glu338=) c.*441G= (n.*441G=) c.*524G= (n.*524G=) c.729G= (p.Glu243=) | |
| 1 | g.209790541C>G | CA1377222 | IRF6 | c.1014G>C (p.Glu338Asp) c.*441G>C (n.*441G>C) c.*524G>C (n.*524G>C) c.729G>C (p.Glu243Asp) | dbSNP ExAC gnomAD v2 |
| 1 | g.209790541C>T | CA423143220 | IRF6 | c.1014G>A (p.Glu338=) c.*441G>A (n.*441G>A) c.*524G>A (n.*524G>A) c.729G>A (p.Glu243=) | |
| 1 | g.209790542T>A | CA344575270 | IRF6 | c.1013A>T (p.Glu338Val) c.*440A>T (n.*440A>T) c.*523A>T (n.*523A>T) c.728A>T (p.Glu243Val) | |
| 1 | g.209790542T>C | CA344575272 | IRF6 | c.1013A>G (p.Glu338Gly) c.*440A>G (n.*440A>G) c.*523A>G (n.*523A>G) c.728A>G (p.Glu243Gly) | |
| 1 | g.209790542T>G | CA344575275 | IRF6 | c.1013A>C (p.Glu338Ala) c.*440A>C (n.*440A>C) c.*523A>C (n.*523A>C) c.728A>C (p.Glu243Ala) | |
| 1 | g.209790543C>A | CA344575283 | IRF6 | c.1012G>T (p.Glu338Ter) c.*439G>T (n.*439G>T) c.*522G>T (n.*522G>T) c.727G>T (p.Glu243Ter) | |
| 1 | g.209790543C= | CA2484365525 | IRF6 | c.1012G= (p.Glu338=) c.*439G= (n.*439G=) c.*522G= (n.*522G=) c.727G= (p.Glu243=) | |
| 1 | g.209790543C>G | CA344575280 | IRF6 | c.1012G>C (p.Glu338Gln) c.*439G>C (n.*439G>C) c.*522G>C (n.*522G>C) c.727G>C (p.Glu243Gln) | |
| 1 | g.209790543C>T | CA344575278 | IRF6 | c.1012G>A (p.Glu338Lys) c.*439G>A (n.*439G>A) c.*522G>A (n.*522G>A) c.727G>A (p.Glu243Lys) | dbSNP |
| 1 | g.209790544A>C | CA344575286 | IRF6 | c.1011T>G (p.Ile337Met) c.*438T>G (n.*438T>G) c.*521T>G (n.*521T>G) c.726T>G (p.Ile242Met) | |
| 1 | g.209790544A>G | CA423143224 | IRF6 | c.1011T>C (p.Ile337=) c.*438T>C (n.*438T>C) c.*521T>C (n.*521T>C) c.726T>C (p.Ile242=) | |
| 1 | g.209790544A>T | CA423143226 | IRF6 | c.1011T>A (p.Ile337=) c.*438T>A (n.*438T>A) c.*521T>A (n.*521T>A) c.726T>A (p.Ile242=) | gnomAD v4 |
| 1 | g.209790545A>C | CA344575296 | IRF6 | c.1010T>G (p.Ile337Ser) c.*437T>G (n.*437T>G) c.*520T>G (n.*520T>G) c.725T>G (p.Ile242Ser) | |
| 1 | g.209790545A>G | CA344575289 | IRF6 | c.1010T>C (p.Ile337Thr) c.*437T>C (n.*437T>C) c.*520T>C (n.*520T>C) c.725T>C (p.Ile242Thr) | |
| 1 | g.209790545A>T | CA344575293 | IRF6 | c.1010T>A (p.Ile337Asn) c.*437T>A (n.*437T>A) c.*520T>A (n.*520T>A) c.725T>A (p.Ile242Asn) | |
| 1 | g.209790546T>A | CA344575299 | IRF6 | c.1009A>T (p.Ile337Phe) c.*436A>T (n.*436A>T) c.*519A>T (n.*519A>T) c.724A>T (p.Ile242Phe) | |
| 1 | g.209790546T>C | CA344575301 | IRF6 | c.1009A>G (p.Ile337Val) c.*436A>G (n.*436A>G) c.*519A>G (n.*519A>G) c.724A>G (p.Ile242Val) | |
| 1 | g.209790546T>G | CA344575303 | IRF6 | c.1009A>C (p.Ile337Leu) c.*436A>C (n.*436A>C) c.*519A>C (n.*519A>C) c.724A>C (p.Ile242Leu) | |
| 1 | g.209790547C>A | CA423143233 | IRF6 | c.1008G>T (p.Leu336=) c.*435G>T (n.*435G>T) c.*518G>T (n.*518G>T) c.723G>T (p.Leu241=) | |
| 1 | g.209790547C>G | CA423143234 | IRF6 | c.1008G>C (p.Leu336=) c.*435G>C (n.*435G>C) c.*518G>C (n.*518G>C) c.723G>C (p.Leu241=) | |
| 1 | g.209790547C>T | CA423143235 | IRF6 | c.1008G>A (p.Leu336=) c.*435G>A (n.*435G>A) c.*518G>A (n.*518G>A) c.723G>A (p.Leu241=) | |
| 1 | g.209790548A= | CA2484365526 | IRF6 | c.1007T= (p.Leu336=) c.*434T= (n.*434T=) c.*517T= (n.*517T=) c.722T= (p.Leu241=) | |
| 1 | g.209790548A>C | CA1377223 | IRF6 | c.1007T>G (p.Leu336Arg) c.*434T>G (n.*434T>G) c.*517T>G (n.*517T>G) c.722T>G (p.Leu241Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209790548A>G | CA344575308 | IRF6 | c.1007T>C (p.Leu336Pro) c.*434T>C (n.*434T>C) c.*517T>C (n.*517T>C) c.722T>C (p.Leu241Pro) | |
| 1 | g.209790548A>T | CA344575310 | IRF6 | c.1007T>A (p.Leu336Gln) c.*434T>A (n.*434T>A) c.*517T>A (n.*517T>A) c.722T>A (p.Leu241Gln) | |
| 1 | g.209790549G>A | CA423143239 | IRF6 | c.1006C>T (p.Leu336=) c.*433C>T (n.*433C>T) c.*516C>T (n.*516C>T) c.721C>T (p.Leu241=) | gnomAD v4 |
| 1 | g.209790549G>C | CA344575313 | IRF6 | c.1006C>G (p.Leu336Val) c.*433C>G (n.*433C>G) c.*516C>G (n.*516C>G) c.721C>G (p.Leu241Val) | |
| 1 | g.209790549G>T | CA344575315 | IRF6 | c.1006C>A (p.Leu336Met) c.*433C>A (n.*433C>A) c.*516C>A (n.*516C>A) c.721C>A (p.Leu241Met) | gnomAD v4 |
| 1 | g.209790550G>A | CA423143243 | IRF6 | c.1005C>T (p.Asn335=) c.*432C>T (n.*432C>T) c.*515C>T (n.*515C>T) c.720C>T (p.Asn240=) | |
| 1 | g.209790550G>C | CA344575318 | IRF6 | c.1005C>G (p.Asn335Lys) c.*432C>G (n.*432C>G) c.*515C>G (n.*515C>G) c.720C>G (p.Asn240Lys) | |
| 1 | g.209790550G>T | CA344575319 | IRF6 | c.1005C>A (p.Asn335Lys) c.*432C>A (n.*432C>A) c.*515C>A (n.*515C>A) c.720C>A (p.Asn240Lys) | |
| 1 | g.209790551T>A | CA344575322 | IRF6 | c.1004A>T (p.Asn335Ile) c.*431A>T (n.*431A>T) c.*514A>T (n.*514A>T) c.719A>T (p.Asn240Ile) | |
| 1 | g.209790551T>C | CA344575324 | IRF6 | c.1004A>G (p.Asn335Ser) c.*431A>G (n.*431A>G) c.*514A>G (n.*514A>G) c.719A>G (p.Asn240Ser) | |
| 1 | g.209790551T>G | CA344575327 | IRF6 | c.1004A>C (p.Asn335Thr) c.*431A>C (n.*431A>C) c.*514A>C (n.*514A>C) c.719A>C (p.Asn240Thr) | |
| 1 | g.209790552T>A | CA344575329 | IRF6 | c.1003A>T (p.Asn335Tyr) c.*430A>T (n.*430A>T) c.*513A>T (n.*513A>T) c.718A>T (p.Asn240Tyr) | |
| 1 | g.209790552T>C | CA344575333 | IRF6 | c.1003A>G (p.Asn335Asp) c.*430A>G (n.*430A>G) c.*513A>G (n.*513A>G) c.718A>G (p.Asn240Asp) | ClinVar |
| 1 | g.209790552T>G | CA344575331 | IRF6 | c.1003A>C (p.Asn335His) c.*430A>C (n.*430A>C) c.*513A>C (n.*513A>C) c.718A>C (p.Asn240His) | dbSNP |
| 1 | g.209790552T= | CA2484365527 | IRF6 | c.1003A= (p.Asn335=) c.*430A= (n.*430A=) c.*513A= (n.*513A=) c.718A= (p.Asn240=) | |
| 1 | g.209790553G>A | CA423143249 | IRF6 | c.1002C>T (p.Pro334=) c.*429C>T (n.*429C>T) c.*512C>T (n.*512C>T) c.717C>T (p.Pro239=) | |
| 1 | g.209790553G>C | CA423143248 | IRF6 | c.1002C>G (p.Pro334=) c.*429C>G (n.*429C>G) c.*512C>G (n.*512C>G) c.717C>G (p.Pro239=) |