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.162282494T>A | CA163194 | IFIH1 | c.*775A>T (n.*775A>T) c.1178A>T (p.Asp393Val) n.788A>T c.866A>T (p.Asp289Val) c.461A>T (p.Asp154Val) | ClinVar dbSNP |
| 2 | g.162282494T>C | CA1934595 | IFIH1 | c.*775A>G (n.*775A>G) c.1178A>G (p.Asp393Gly) n.788A>G c.866A>G (p.Asp289Gly) c.461A>G (p.Asp154Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.162282494T>G | CA349002915 | IFIH1 | c.*775A>C (n.*775A>C) c.1178A>C (p.Asp393Ala) n.788A>C c.866A>C (p.Asp289Ala) c.461A>C (p.Asp154Ala) | ClinVar dbSNP |
| 2 | g.162282494T= | CA1303149343 | IFIH1 | c.*775A= (n.*775A=) c.1178A= (p.Asp393=) n.788A= c.866A= (p.Asp289=) c.461A= (p.Asp154=) | |
| 2 | g.162282495_162282501del | CA2752938766 | IFIH1 | c.*769_*775del (n.*769_*775del) c.1172_1178del (p.Ser391IlefsTer4) n.782_788del c.860_866del (p.Ser287IlefsTer4) c.455_461del (p.Ser152IlefsTer4) | |
| 2 | g.162282495C>A | CA349002916 | IFIH1 | c.*774G>T (n.*774G>T) c.1177G>T (p.Asp393Tyr) n.787G>T c.865G>T (p.Asp289Tyr) c.460G>T (p.Asp154Tyr) | |
| 2 | g.162282495C>G | CA349002917 | IFIH1 | c.*774G>C (n.*774G>C) c.1177G>C (p.Asp393His) n.787G>C c.865G>C (p.Asp289His) c.460G>C (p.Asp154His) | |
| 2 | g.162282495C>T | CA349002918 | IFIH1 | c.*774G>A (n.*774G>A) c.1177G>A (p.Asp393Asn) n.787G>A c.865G>A (p.Asp289Asn) c.460G>A (p.Asp154Asn) | |
| 2 | g.162282496A>C | CA429536116 | IFIH1 | c.*773T>G (n.*773T>G) c.1176T>G (p.Gly392=) n.786T>G c.864T>G (p.Gly288=) c.459T>G (p.Gly153=) | |
| 2 | g.162282496A>G | CA429536115 | IFIH1 | c.*773T>C (n.*773T>C) c.1176T>C (p.Gly392=) n.786T>C c.864T>C (p.Gly288=) c.459T>C (p.Gly153=) | |
| 2 | g.162282496A>T | CA429536114 | IFIH1 | c.*773T>A (n.*773T>A) c.1176T>A (p.Gly392=) n.786T>A c.864T>A (p.Gly288=) c.459T>A (p.Gly153=) | |
| 2 | g.162282497C>A | CA349002921 | IFIH1 | c.*772G>T (n.*772G>T) c.1175G>T (p.Gly392Val) n.785G>T c.863G>T (p.Gly288Val) c.458G>T (p.Gly153Val) | |
| 2 | g.162282497C= | CA1303149344 | IFIH1 | c.*772G= (n.*772G=) c.1175G= (p.Gly392=) n.785G= c.863G= (p.Gly288=) c.458G= (p.Gly153=) | |
| 2 | g.162282497C>G | CA349002920 | IFIH1 | c.*772G>C (n.*772G>C) c.1175G>C (p.Gly392Ala) n.785G>C c.863G>C (p.Gly288Ala) c.458G>C (p.Gly153Ala) | |
| 2 | g.162282497C>T | CA349002919 | IFIH1 | c.*772G>A (n.*772G>A) c.1175G>A (p.Gly392Asp) n.785G>A c.863G>A (p.Gly288Asp) c.458G>A (p.Gly153Asp) | ClinVar dbSNP gnomAD v2 |
| 2 | g.162282498C>A | CA349002922 | IFIH1 | c.*771G>T (n.*771G>T) c.1174G>T (p.Gly392Cys) n.784G>T c.862G>T (p.Gly288Cys) c.457G>T (p.Gly153Cys) | |
| 2 | g.162282498C>G | CA349002923 | IFIH1 | c.*771G>C (n.*771G>C) c.1174G>C (p.Gly392Arg) n.784G>C c.862G>C (p.Gly288Arg) c.457G>C (p.Gly153Arg) | |
| 2 | g.162282498C>T | CA349002924 | IFIH1 | c.*771G>A (n.*771G>A) c.1174G>A (p.Gly392Ser) n.784G>A c.862G>A (p.Gly288Ser) c.457G>A (p.Gly153Ser) | |
| 2 | g.162282499A= | CA1303149345 | IFIH1 | c.*770T= (n.*770T=) c.1173T= (p.Ser391=) n.783T= c.861T= (p.Ser287=) c.456T= (p.Ser152=) | |
| 2 | g.162282499A>C | CA349002925 | IFIH1 | c.*770T>G (n.*770T>G) c.1173T>G (p.Ser391Arg) n.783T>G c.861T>G (p.Ser287Arg) c.456T>G (p.Ser152Arg) | |
| 2 | g.162282499A>G | CA59665927 | IFIH1 | c.*770T>C (n.*770T>C) c.1173T>C (p.Ser391=) n.783T>C c.861T>C (p.Ser287=) c.456T>C (p.Ser152=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.162282499A>T | CA349002926 | IFIH1 | c.*770T>A (n.*770T>A) c.1173T>A (p.Ser391Arg) n.783T>A c.861T>A (p.Ser287Arg) c.456T>A (p.Ser152Arg) | gnomAD v4 |
| 2 | g.162282500C>A | CA349002927 | IFIH1 | c.*769G>T (n.*769G>T) c.1172G>T (p.Ser391Ile) n.782G>T c.860G>T (p.Ser287Ile) c.455G>T (p.Ser152Ile) | |
| 2 | g.162282500C= | CA1303149346 | IFIH1 | c.*769G= (n.*769G=) c.1172G= (p.Ser391=) n.782G= c.860G= (p.Ser287=) c.455G= (p.Ser152=) | |
| 2 | g.162282500C>G | CA349002928 | IFIH1 | c.*769G>C (n.*769G>C) c.1172G>C (p.Ser391Thr) n.782G>C c.860G>C (p.Ser287Thr) c.455G>C (p.Ser152Thr) | |
| 2 | g.162282500C>T | CA349002929 | IFIH1 | c.*769G>A (n.*769G>A) c.1172G>A (p.Ser391Asn) n.782G>A c.860G>A (p.Ser287Asn) c.455G>A (p.Ser152Asn) | gnomAD v4 |
| 2 | g.162282500_162282501insG | CA1934596 | IFIH1 | c.*768_*769insC (n.*768_*769insC) c.1171_1172insC (p.Ser391ThrfsTer3) n.781_782insC c.859_860insC (p.Ser287ThrfsTer3) c.454_455insC (p.Ser152ThrfsTer3) | dbSNP ExAC gnomAD v2 |
| 2 | g.162282501T>A | CA349002930 | IFIH1 | c.*768A>T (n.*768A>T) c.1171A>T (p.Ser391Cys) n.781A>T c.859A>T (p.Ser287Cys) c.454A>T (p.Ser152Cys) | |
| 2 | g.162282501T>C | CA349002931 | IFIH1 | c.*768A>G (n.*768A>G) c.1171A>G (p.Ser391Gly) n.781A>G c.859A>G (p.Ser287Gly) c.454A>G (p.Ser152Gly) | gnomAD v4 |
| 2 | g.162282501T>G | CA349002932 | IFIH1 | c.*768A>C (n.*768A>C) c.1171A>C (p.Ser391Arg) n.781A>C c.859A>C (p.Ser287Arg) c.454A>C (p.Ser152Arg) | |
| 2 | g.162282502T>A | CA349002933 | IFIH1 | c.*767A>T (n.*767A>T) c.1170A>T (p.Leu390Phe) n.780A>T c.858A>T (p.Leu286Phe) c.453A>T (p.Leu151Phe) | |
| 2 | g.162282502T>C | CA429536123 | IFIH1 | c.*767A>G (n.*767A>G) c.1170A>G (p.Leu390=) n.780A>G c.858A>G (p.Leu286=) c.453A>G (p.Leu151=) | |
| 2 | g.162282502T>G | CA349002934 | IFIH1 | c.*767A>C (n.*767A>C) c.1170A>C (p.Leu390Phe) n.780A>C c.858A>C (p.Leu286Phe) c.453A>C (p.Leu151Phe) | |
| 2 | g.162282503A>C | CA349002937 | IFIH1 | c.*766T>G (n.*766T>G) c.1169T>G (p.Leu390Ter) n.779T>G c.857T>G (p.Leu286Ter) c.452T>G (p.Leu151Ter) | ClinVar dbSNP |
| 2 | g.162282503A>G | CA349002936 | IFIH1 | c.*766T>C (n.*766T>C) c.1169T>C (p.Leu390Ser) n.779T>C c.857T>C (p.Leu286Ser) c.452T>C (p.Leu151Ser) | gnomAD v4 |
| 2 | g.162282503A>T | CA349002935 | IFIH1 | c.*766T>A (n.*766T>A) c.1169T>A (p.Leu390Ter) n.779T>A c.857T>A (p.Leu286Ter) c.452T>A (p.Leu151Ter) | |
| 2 | g.162282504A>C | CA349002938 | IFIH1 | c.*765T>G (n.*765T>G) c.1168T>G (p.Leu390Val) n.778T>G c.856T>G (p.Leu286Val) c.451T>G (p.Leu151Val) | |
| 2 | g.162282504A>G | CA429536125 | IFIH1 | c.*765T>C (n.*765T>C) c.1168T>C (p.Leu390=) n.778T>C c.856T>C (p.Leu286=) c.451T>C (p.Leu151=) | |
| 2 | g.162282504A>T | CA349002939 | IFIH1 | c.*765T>A (n.*765T>A) c.1168T>A (p.Leu390Ile) n.778T>A c.856T>A (p.Leu286Ile) c.451T>A (p.Leu151Ile) | |
| 2 | g.162282505T>A | CA429536126 | IFIH1 | c.*764A>T (n.*764A>T) c.1167A>T (p.Gly389=) n.777A>T c.855A>T (p.Gly285=) c.450A>T (p.Gly150=) | |
| 2 | g.162282505T>C | CA429536127 | IFIH1 | c.*764A>G (n.*764A>G) c.1167A>G (p.Gly389=) n.777A>G c.855A>G (p.Gly285=) c.450A>G (p.Gly150=) | |
| 2 | g.162282505T>G | CA429536128 | IFIH1 | c.*764A>C (n.*764A>C) c.1167A>C (p.Gly389=) n.777A>C c.855A>C (p.Gly285=) c.450A>C (p.Gly150=) | |
| 2 | g.162282506C>A | CA349002940 | IFIH1 | c.*763G>T (n.*763G>T) c.1166G>T (p.Gly389Val) n.776G>T c.854G>T (p.Gly285Val) c.449G>T (p.Gly150Val) | |
| 2 | g.162282506C= | CA1303149347 | IFIH1 | c.*763G= (n.*763G=) c.1166G= (p.Gly389=) n.776G= c.854G= (p.Gly285=) c.449G= (p.Gly150=) | |
| 2 | g.162282506C>G | CA349002941 | IFIH1 | c.*763G>C (n.*763G>C) c.1166G>C (p.Gly389Ala) n.776G>C c.854G>C (p.Gly285Ala) c.449G>C (p.Gly150Ala) | |
| 2 | g.162282506C>T | CA1934597 | IFIH1 | c.*763G>A (n.*763G>A) c.1166G>A (p.Gly389Glu) n.776G>A c.854G>A (p.Gly285Glu) c.449G>A (p.Gly150Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.162282507C>A | CA349002942 | IFIH1 | c.*762G>T (n.*762G>T) c.1165G>T (p.Gly389Ter) n.775G>T c.853G>T (p.Gly285Ter) c.448G>T (p.Gly150Ter) | |
| 2 | g.162282507C= | CA1303149348 | IFIH1 | c.*762G= (n.*762G=) c.1165G= (p.Gly389=) n.775G= c.853G= (p.Gly285=) c.448G= (p.Gly150=) | |
| 2 | g.162282507C>G | CA349002943 | IFIH1 | c.*762G>C (n.*762G>C) c.1165G>C (p.Gly389Arg) n.775G>C c.853G>C (p.Gly285Arg) c.448G>C (p.Gly150Arg) | |
| 2 | g.162282507C>T | CA349002944 | IFIH1 | c.*762G>A (n.*762G>A) c.1165G>A (p.Gly389Arg) n.775G>A c.853G>A (p.Gly285Arg) c.448G>A (p.Gly150Arg) | ClinVar dbSNP |