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.209788593_209788603delinsTGAAATCACCA | CA2484364818 | IRF6 | c.1221_1231delinsTGGTGATTTCA (p.Ser407=) c.*648_*658delinsTGGTGATTTCA (n.*648_*658delinsTGGTGATTTCA) c.*731_*741delinsTGGTGATTTCA (n.*731_*741delinsTGGTGATTTCA) c.936_946delinsTGGTGATTTCA (p.Ser312=) | |
| 1 | g.209788598_209788607del | CA16603308 | IRF6 | c.1221_1230del (p.Gly408HisfsTer26) c.*648_*657del (n.*648_*657del) c.*731_*740del (n.*731_*740del) c.936_945del (p.Gly313HisfsTer26) | ClinVar dbSNP |
| 1 | g.209788598T>A | CA344573368 | IRF6 | c.1226A>T (p.Asp409Val) c.*653A>T (n.*653A>T) c.*736A>T (n.*736A>T) c.941A>T (p.Asp314Val) | |
| 1 | g.209788598T>C | CA344573369 | IRF6 | c.1226A>G (p.Asp409Gly) c.*653A>G (n.*653A>G) c.*736A>G (n.*736A>G) c.941A>G (p.Asp314Gly) | |
| 1 | g.209788598T>G | CA344573370 | IRF6 | c.1226A>C (p.Asp409Ala) c.*653A>C (n.*653A>C) c.*736A>C (n.*736A>C) c.941A>C (p.Asp314Ala) | |
| 1 | g.209788600_209788614del | CA2586968033 | IRF6 | c.1212_1226del (p.Glu404_Gly408del) c.*639_*653del (n.*639_*653del) c.*722_*736del (n.*722_*736del) c.927_941del (p.Glu309_Gly313del) | |
| 1 | g.209788599C>A | CA344573371 | IRF6 | c.1225G>T (p.Asp409Tyr) c.*652G>T (n.*652G>T) c.*735G>T (n.*735G>T) c.940G>T (p.Asp314Tyr) | |
| 1 | g.209788599C>G | CA344573373 | IRF6 | c.1225G>C (p.Asp409His) c.*652G>C (n.*652G>C) c.*735G>C (n.*735G>C) c.940G>C (p.Asp314His) | |
| 1 | g.209788599C>T | CA344573374 | IRF6 | c.1225G>A (p.Asp409Asn) c.*652G>A (n.*652G>A) c.*735G>A (n.*735G>A) c.940G>A (p.Asp314Asn) | |
| 1 | g.209788600A= | CA1143436313 | IRF6 | c.1224T= (p.Gly408=) c.*651T= (n.*651T=) c.*734T= (n.*734T=) c.939T= (p.Gly313=) | |
| 1 | g.209788600A>C | CA423026463 | IRF6 | c.1224T>G (p.Gly408=) c.*651T>G (n.*651T>G) c.*734T>G (n.*734T>G) c.939T>G (p.Gly313=) | |
| 1 | g.209788600A>G | CA1377156 | IRF6 | c.1224T>C (p.Gly408=) c.*651T>C (n.*651T>C) c.*734T>C (n.*734T>C) c.939T>C (p.Gly313=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209788600A>T | CA423026466 | IRF6 | c.1224T>A (p.Gly408=) c.*651T>A (n.*651T>A) c.*734T>A (n.*734T>A) c.939T>A (p.Gly313=) | |
| 1 | g.209788601C>A | CA344573379 | IRF6 | c.1223G>T (p.Gly408Val) c.*650G>T (n.*650G>T) c.*733G>T (n.*733G>T) c.938G>T (p.Gly313Val) | |
| 1 | g.209788601C>G | CA344573381 | IRF6 | c.1223G>C (p.Gly408Ala) c.*650G>C (n.*650G>C) c.*733G>C (n.*733G>C) c.938G>C (p.Gly313Ala) | |
| 1 | g.209788601C>T | CA344573384 | IRF6 | c.1223G>A (p.Gly408Asp) c.*650G>A (n.*650G>A) c.*733G>A (n.*733G>A) c.938G>A (p.Gly313Asp) | gnomAD v4 |
| 1 | g.209788602C>A | CA344573390 | IRF6 | c.1222G>T (p.Gly408Cys) c.*649G>T (n.*649G>T) c.*732G>T (n.*732G>T) c.937G>T (p.Gly313Cys) | |
| 1 | g.209788602C>G | CA344573393 | IRF6 | c.1222G>C (p.Gly408Arg) c.*649G>C (n.*649G>C) c.*732G>C (n.*732G>C) c.937G>C (p.Gly313Arg) | |
| 1 | g.209788602C>T | CA344573388 | IRF6 | c.1222G>A (p.Gly408Ser) c.*649G>A (n.*649G>A) c.*732G>A (n.*732G>A) c.937G>A (p.Gly313Ser) | |
| 1 | g.209788603A>C | CA423026501 | IRF6 | c.1221T>G (p.Ser407=) c.*648T>G (n.*648T>G) c.*731T>G (n.*731T>G) c.936T>G (p.Ser312=) | |
| 1 | g.209788603A>G | CA423026502 | IRF6 | c.1221T>C (p.Ser407=) c.*648T>C (n.*648T>C) c.*731T>C (n.*731T>C) c.936T>C (p.Ser312=) | |
| 1 | g.209788603A>T | CA423026503 | IRF6 | c.1221T>A (p.Ser407=) c.*648T>A (n.*648T>A) c.*731T>A (n.*731T>A) c.936T>A (p.Ser312=) | |
| 1 | g.209788604G>A | CA344573396 | IRF6 | c.1220C>T (p.Ser407Phe) c.*647C>T (n.*647C>T) c.*730C>T (n.*730C>T) c.935C>T (p.Ser312Phe) | gnomAD v4 |
| 1 | g.209788604G>C | CA344573397 | IRF6 | c.1220C>G (p.Ser407Cys) c.*647C>G (n.*647C>G) c.*730C>G (n.*730C>G) c.935C>G (p.Ser312Cys) | |
| 1 | g.209788604G>T | CA344573398 | IRF6 | c.1220C>A (p.Ser407Tyr) c.*647C>A (n.*647C>A) c.*730C>A (n.*730C>A) c.935C>A (p.Ser312Tyr) | |
| 1 | g.209788605A>C | CA344573400 | IRF6 | c.1219T>G (p.Ser407Ala) c.*646T>G (n.*646T>G) c.*729T>G (n.*729T>G) c.934T>G (p.Ser312Ala) | |
| 1 | g.209788605A>G | CA344573402 | IRF6 | c.1219T>C (p.Ser407Pro) c.*646T>C (n.*646T>C) c.*729T>C (n.*729T>C) c.934T>C (p.Ser312Pro) | |
| 1 | g.209788605A>T | CA344573404 | IRF6 | c.1219T>A (p.Ser407Thr) c.*646T>A (n.*646T>A) c.*729T>A (n.*729T>A) c.934T>A (p.Ser312Thr) | |
| 1 | g.209788608del | CA2586968034 | IRF6 | c.1219del (p.Ser407LeufsTer30) c.*646del (n.*646del) c.*729del (n.*729del) c.934del (p.Ser312LeufsTer30) | |
| 1 | g.209788606A>C | CA344573409 | IRF6 | c.1218T>G (p.Phe406Leu) c.*645T>G (n.*645T>G) c.*728T>G (n.*728T>G) c.933T>G (p.Phe311Leu) | |
| 1 | g.209788606A>G | CA423026535 | IRF6 | c.1218T>C (p.Phe406=) c.*645T>C (n.*645T>C) c.*728T>C (n.*728T>C) c.933T>C (p.Phe311=) | |
| 1 | g.209788606A>T | CA344573406 | IRF6 | c.1218T>A (p.Phe406Leu) c.*645T>A (n.*645T>A) c.*728T>A (n.*728T>A) c.933T>A (p.Phe311Leu) | |
| 1 | g.209788607A>C | CA344573412 | IRF6 | c.1217T>G (p.Phe406Cys) c.*644T>G (n.*644T>G) c.*727T>G (n.*727T>G) c.932T>G (p.Phe311Cys) | |
| 1 | g.209788607A>G | CA344573415 | IRF6 | c.1217T>C (p.Phe406Ser) c.*644T>C (n.*644T>C) c.*727T>C (n.*727T>C) c.932T>C (p.Phe311Ser) | |
| 1 | g.209788607A>T | CA344573416 | IRF6 | c.1217T>A (p.Phe406Tyr) c.*644T>A (n.*644T>A) c.*727T>A (n.*727T>A) c.932T>A (p.Phe311Tyr) | |
| 1 | g.209788608A>C | CA344573417 | IRF6 | c.1216T>G (p.Phe406Val) c.*643T>G (n.*643T>G) c.*726T>G (n.*726T>G) c.931T>G (p.Phe311Val) | |
| 1 | g.209788608A>G | CA344573418 | IRF6 | c.1216T>C (p.Phe406Leu) c.*643T>C (n.*643T>C) c.*726T>C (n.*726T>C) c.931T>C (p.Phe311Leu) | |
| 1 | g.209788608A>T | CA344573419 | IRF6 | c.1216T>A (p.Phe406Ile) c.*643T>A (n.*643T>A) c.*726T>A (n.*726T>A) c.931T>A (p.Phe311Ile) | |
| 1 | g.209788609C>A | CA344573422 | IRF6 | c.1215G>T (p.Met405Ile) c.*642G>T (n.*642G>T) c.*725G>T (n.*725G>T) c.930G>T (p.Met310Ile) | |
| 1 | g.209788609C>G | CA344573420 | IRF6 | c.1215G>C (p.Met405Ile) c.*642G>C (n.*642G>C) c.*725G>C (n.*725G>C) c.930G>C (p.Met310Ile) | |
| 1 | g.209788609C>T | CA344573421 | IRF6 | c.1215G>A (p.Met405Ile) c.*642G>A (n.*642G>A) c.*725G>A (n.*725G>A) c.930G>A (p.Met310Ile) | |
| 1 | g.209788610A>C | CA344573424 | IRF6 | c.1214T>G (p.Met405Arg) c.*641T>G (n.*641T>G) c.*724T>G (n.*724T>G) c.929T>G (p.Met310Arg) | |
| 1 | g.209788610A>G | CA344573429 | IRF6 | c.1214T>C (p.Met405Thr) c.*641T>C (n.*641T>C) c.*724T>C (n.*724T>C) c.929T>C (p.Met310Thr) | |
| 1 | g.209788610A>T | CA344573426 | IRF6 | c.1214T>A (p.Met405Lys) c.*641T>A (n.*641T>A) c.*724T>A (n.*724T>A) c.929T>A (p.Met310Lys) | |
| 1 | g.209788611T>A | CA344573433 | IRF6 | c.1213A>T (p.Met405Leu) c.*640A>T (n.*640A>T) c.*723A>T (n.*723A>T) c.928A>T (p.Met310Leu) | |
| 1 | g.209788611T>C | CA344573438 | IRF6 | c.1213A>G (p.Met405Val) c.*640A>G (n.*640A>G) c.*723A>G (n.*723A>G) c.928A>G (p.Met310Val) | |
| 1 | g.209788611T>G | CA344573435 | IRF6 | c.1213A>C (p.Met405Leu) c.*640A>C (n.*640A>C) c.*723A>C (n.*723A>C) c.928A>C (p.Met310Leu) | dbSNP |
| 1 | g.209788611T= | CA2484364821 | IRF6 | c.1213A= (p.Met405=) c.*640A= (n.*640A=) c.*723A= (n.*723A=) c.928A= (p.Met310=) | |
| 1 | g.209788612C>A | CA344573442 | IRF6 | c.1212G>T (p.Glu404Asp) c.*639G>T (n.*639G>T) c.*722G>T (n.*722G>T) c.927G>T (p.Glu309Asp) | |
| 1 | g.209788612C>G | CA344573444 | IRF6 | c.1212G>C (p.Glu404Asp) c.*639G>C (n.*639G>C) c.*722G>C (n.*722G>C) c.927G>C (p.Glu309Asp) |