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.162282394A>C | CA349002698 | IFIH1 | c.*875T>G (n.*875T>G) c.1278T>G (p.Asn426Lys) n.888T>G c.966T>G (p.Asn322Lys) c.561T>G (p.Asn187Lys) | |
| 2 | g.162282394A>G | CA429535960 | IFIH1 | c.*875T>C (n.*875T>C) c.1278T>C (p.Asn426=) n.888T>C c.966T>C (p.Asn322=) c.561T>C (p.Asn187=) | gnomAD v4 |
| 2 | g.162282394A>T | CA349002699 | IFIH1 | c.*875T>A (n.*875T>A) c.1278T>A (p.Asn426Lys) n.888T>A c.966T>A (p.Asn322Lys) c.561T>A (p.Asn187Lys) | gnomAD v4 |
| 2 | g.162282395T>A | CA349002702 | IFIH1 | c.*874A>T (n.*874A>T) c.1277A>T (p.Asn426Ile) n.887A>T c.965A>T (p.Asn322Ile) c.560A>T (p.Asn187Ile) | |
| 2 | g.162282395T>C | CA349002701 | IFIH1 | c.*874A>G (n.*874A>G) c.1277A>G (p.Asn426Ser) n.887A>G c.965A>G (p.Asn322Ser) c.560A>G (p.Asn187Ser) | |
| 2 | g.162282395T>G | CA349002700 | IFIH1 | c.*874A>C (n.*874A>C) c.1277A>C (p.Asn426Thr) n.887A>C c.965A>C (p.Asn322Thr) c.560A>C (p.Asn187Thr) | |
| 2 | g.162282396T>A | CA349002705 | IFIH1 | c.*873A>T (n.*873A>T) c.1276A>T (p.Asn426Tyr) n.886A>T c.964A>T (p.Asn322Tyr) c.559A>T (p.Asn187Tyr) | |
| 2 | g.162282396T>C | CA349002703 | IFIH1 | c.*873A>G (n.*873A>G) c.1276A>G (p.Asn426Asp) n.886A>G c.964A>G (p.Asn322Asp) c.559A>G (p.Asn187Asp) | |
| 2 | g.162282396T>G | CA349002704 | IFIH1 | c.*873A>C (n.*873A>C) c.1276A>C (p.Asn426His) n.886A>C c.964A>C (p.Asn322His) c.559A>C (p.Asn187His) | |
| 2 | g.162282397T>A | CA349002706 | IFIH1 | c.*872A>T (n.*872A>T) c.1275A>T (p.Glu425Asp) n.885A>T c.963A>T (p.Glu321Asp) c.558A>T (p.Glu186Asp) | |
| 2 | g.162282397T>C | CA1934577 | IFIH1 | c.*872A>G (n.*872A>G) c.1275A>G (p.Glu425=) n.885A>G c.963A>G (p.Glu321=) c.558A>G (p.Glu186=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.162282397T>G | CA349002707 | IFIH1 | c.*872A>C (n.*872A>C) c.1275A>C (p.Glu425Asp) n.885A>C c.963A>C (p.Glu321Asp) c.558A>C (p.Glu186Asp) | |
| 2 | g.162282397T= | CA1303149301 | IFIH1 | c.*872A= (n.*872A=) c.1275A= (p.Glu425=) n.885A= c.963A= (p.Glu321=) c.558A= (p.Glu186=) | |
| 2 | g.162282398T>A | CA349002708 | IFIH1 | c.*871A>T (n.*871A>T) c.1274A>T (p.Glu425Val) n.884A>T c.962A>T (p.Glu321Val) c.557A>T (p.Glu186Val) | |
| 2 | g.162282398T>C | CA349002709 | IFIH1 | c.*871A>G (n.*871A>G) c.1274A>G (p.Glu425Gly) n.884A>G c.962A>G (p.Glu321Gly) c.557A>G (p.Glu186Gly) | |
| 2 | g.162282398T>G | CA349002710 | IFIH1 | c.*871A>C (n.*871A>C) c.1274A>C (p.Glu425Ala) n.884A>C c.962A>C (p.Glu321Ala) c.557A>C (p.Glu186Ala) | |
| 2 | g.162282399C>A | CA59665743 | IFIH1 | c.*870G>T (n.*870G>T) c.1273G>T (p.Glu425Ter) n.883G>T c.961G>T (p.Glu321Ter) c.556G>T (p.Glu186Ter) | dbSNP gnomAD v4 |
| 2 | g.162282399C= | CA1303149302 | IFIH1 | c.*870G= (n.*870G=) c.1273G= (p.Glu425=) n.883G= c.961G= (p.Glu321=) c.556G= (p.Glu186=) | |
| 2 | g.162282399C>G | CA349002711 | IFIH1 | c.*870G>C (n.*870G>C) c.1273G>C (p.Glu425Gln) n.883G>C c.961G>C (p.Glu321Gln) c.556G>C (p.Glu186Gln) | |
| 2 | g.162282399C>T | CA349002712 | IFIH1 | c.*870G>A (n.*870G>A) c.1273G>A (p.Glu425Lys) n.883G>A c.961G>A (p.Glu321Lys) c.556G>A (p.Glu186Lys) | |
| 2 | g.162282400C>A | CA349002713 | IFIH1 | c.*869G>T (n.*869G>T) c.1272G>T (p.Leu424Phe) n.882G>T c.960G>T (p.Leu320Phe) c.555G>T (p.Leu185Phe) | |
| 2 | g.162282400C>G | CA349002714 | IFIH1 | c.*869G>C (n.*869G>C) c.1272G>C (p.Leu424Phe) n.882G>C c.960G>C (p.Leu320Phe) c.555G>C (p.Leu185Phe) | |
| 2 | g.162282400C>T | CA429535969 | IFIH1 | c.*869G>A (n.*869G>A) c.1272G>A (p.Leu424=) n.882G>A c.960G>A (p.Leu320=) c.555G>A (p.Leu185=) | |
| 2 | g.162282400_162282401delinsCA | CA1303149303 | IFIH1 | c.*868_*869delinsTG (n.*868_*869delinsTG) c.1271_1272delinsTG (p.Leu424=) n.881_882delinsTG c.959_960delinsTG (p.Leu320=) c.554_555delinsTG (p.Leu185=) | |
| 2 | g.162282401A>C | CA349002717 | IFIH1 | c.*868T>G (n.*868T>G) c.1271T>G (p.Leu424Trp) n.881T>G c.959T>G (p.Leu320Trp) c.554T>G (p.Leu185Trp) | |
| 2 | g.162282401A>G | CA349002715 | IFIH1 | c.*868T>C (n.*868T>C) c.1271T>C (p.Leu424Ser) n.881T>C c.959T>C (p.Leu320Ser) c.554T>C (p.Leu185Ser) | |
| 2 | g.162282401A>T | CA349002716 | IFIH1 | c.*868T>A (n.*868T>A) c.1271T>A (p.Leu424Ter) n.881T>A c.959T>A (p.Leu320Ter) c.554T>A (p.Leu185Ter) | |
| 2 | g.162282402del | CA759857621 | IFIH1 | c.*868del (n.*868del) c.1271del (p.Leu424TrpfsTer?) n.881del c.959del (p.Leu320TrpfsTer?) c.554del (p.Leu185TrpfsTer?) | ClinVar dbSNP gnomAD v4 |
| 2 | g.162282402A= | CA1303149304 | IFIH1 | c.*867T= (n.*867T=) c.1270T= (p.Leu424=) n.880T= c.958T= (p.Leu320=) c.553T= (p.Leu185=) | |
| 2 | g.162282402A>C | CA349002718 | IFIH1 | c.*867T>G (n.*867T>G) c.1270T>G (p.Leu424Val) n.880T>G c.958T>G (p.Leu320Val) c.553T>G (p.Leu185Val) | ClinVar dbSNP gnomAD v4 |
| 2 | g.162282402A>G | CA1934578 | IFIH1 | c.*867T>C (n.*867T>C) c.1270T>C (p.Leu424=) n.880T>C c.958T>C (p.Leu320=) c.553T>C (p.Leu185=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.162282402A>T | CA349002719 | IFIH1 | c.*867T>A (n.*867T>A) c.1270T>A (p.Leu424Met) n.880T>A c.958T>A (p.Leu320Met) c.553T>A (p.Leu185Met) | gnomAD v4 |
| 2 | g.162282403G>A | CA429535972 | IFIH1 | c.*866C>T (n.*866C>T) c.1269C>T (p.Asn423=) n.879C>T c.957C>T (p.Asn319=) c.552C>T (p.Asn184=) | dbSNP |
| 2 | g.162282403G>C | CA349002720 | IFIH1 | c.*866C>G (n.*866C>G) c.1269C>G (p.Asn423Lys) n.879C>G c.957C>G (p.Asn319Lys) c.552C>G (p.Asn184Lys) | |
| 2 | g.162282403G= | CA1303149305 | IFIH1 | c.*866C= (n.*866C=) c.1269C= (p.Asn423=) n.879C= c.957C= (p.Asn319=) c.552C= (p.Asn184=) | |
| 2 | g.162282403G>T | CA349002721 | IFIH1 | c.*866C>A (n.*866C>A) c.1269C>A (p.Asn423Lys) n.879C>A c.957C>A (p.Asn319Lys) c.552C>A (p.Asn184Lys) | |
| 2 | g.162282404T>A | CA349002722 | IFIH1 | c.*865A>T (n.*865A>T) c.1268A>T (p.Asn423Ile) n.878A>T c.956A>T (p.Asn319Ile) c.551A>T (p.Asn184Ile) | |
| 2 | g.162282404T>C | CA349002723 | IFIH1 | c.*865A>G (n.*865A>G) c.1268A>G (p.Asn423Ser) n.878A>G c.956A>G (p.Asn319Ser) c.551A>G (p.Asn184Ser) | |
| 2 | g.162282404T>G | CA349002724 | IFIH1 | c.*865A>C (n.*865A>C) c.1268A>C (p.Asn423Thr) n.878A>C c.956A>C (p.Asn319Thr) c.551A>C (p.Asn184Thr) | |
| 2 | g.162282405T>A | CA349002725 | IFIH1 | c.*864A>T (n.*864A>T) c.1267A>T (p.Asn423Tyr) n.877A>T c.955A>T (p.Asn319Tyr) c.550A>T (p.Asn184Tyr) | |
| 2 | g.162282405T>C | CA349002726 | IFIH1 | c.*864A>G (n.*864A>G) c.1267A>G (p.Asn423Asp) n.877A>G c.955A>G (p.Asn319Asp) c.550A>G (p.Asn184Asp) | |
| 2 | g.162282405T>G | CA349002727 | IFIH1 | c.*864A>C (n.*864A>C) c.1267A>C (p.Asn423His) n.877A>C c.955A>C (p.Asn319His) c.550A>C (p.Asn184His) | |
| 2 | g.162282406T>A | CA349002728 | IFIH1 | c.*863A>T (n.*863A>T) c.1266A>T (p.Leu422Phe) n.876A>T c.954A>T (p.Leu318Phe) c.549A>T (p.Leu183Phe) | |
| 2 | g.162282406T>C | CA429535977 | IFIH1 | c.*863A>G (n.*863A>G) c.1266A>G (p.Leu422=) n.876A>G c.954A>G (p.Leu318=) c.549A>G (p.Leu183=) | |
| 2 | g.162282406T>G | CA349002729 | IFIH1 | c.*863A>C (n.*863A>C) c.1266A>C (p.Leu422Phe) n.876A>C c.954A>C (p.Leu318Phe) c.549A>C (p.Leu183Phe) | |
| 2 | g.162282407A>C | CA349002731 | IFIH1 | c.*862T>G (n.*862T>G) c.1265T>G (p.Leu422Ter) n.875T>G c.953T>G (p.Leu318Ter) c.548T>G (p.Leu183Ter) | |
| 2 | g.162282407A>G | CA349002732 | IFIH1 | c.*862T>C (n.*862T>C) c.1265T>C (p.Leu422Ser) n.875T>C c.953T>C (p.Leu318Ser) c.548T>C (p.Leu183Ser) | |
| 2 | g.162282407A>T | CA349002730 | IFIH1 | c.*862T>A (n.*862T>A) c.1265T>A (p.Leu422Ter) n.875T>A c.953T>A (p.Leu318Ter) c.548T>A (p.Leu183Ter) | |
| 2 | g.162282408A>C | CA349002733 | IFIH1 | c.*861T>G (n.*861T>G) c.1264T>G (p.Leu422Val) n.874T>G c.952T>G (p.Leu318Val) c.547T>G (p.Leu183Val) | |
| 2 | g.162282408A>G | CA429535979 | IFIH1 | c.*861T>C (n.*861T>C) c.1264T>C (p.Leu422=) n.874T>C c.952T>C (p.Leu318=) c.547T>C (p.Leu183=) |