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 |
|---|---|---|---|---|---|
| X | g.154969329_154969448del | CA2695237407 | F8 | c.893_1009+3del c.*769_*885+3del c.788_904+3del | |
| X | g.154969417G>A | CA255082 | F8 | c.923C>T (p.Ser308Leu) c.*799C>T (n.*799C>T) c.818C>T (p.Ser273Leu) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.154969417G>C | CA414917900 | F8 | c.923C>G (p.Ser308Trp) c.*799C>G (n.*799C>G) c.818C>G (p.Ser273Trp) | |
| X | g.154969417G= | CA2466848995 | F8 | c.923C= (p.Ser308=) c.*799C= (n.*799C=) c.818C= (p.Ser273=) | |
| X | g.154969417G>T | CA414917901 | F8 | c.923C>A (p.Ser308Ter) c.*799C>A (n.*799C>A) c.818C>A (p.Ser273Ter) | |
| X | g.154969417_154969422delinsGAGATT | CA2466848996 | F8 | c.918_923delinsAATCTC (p.Glu306=) c.*794_*799delinsAATCTC (n.*794_*799delinsAATCTC) c.813_818delinsAATCTC (p.Glu271=) | |
| X | g.154969418A>C | CA414917902 | F8 | c.922T>G (p.Ser308Ala) c.*798T>G (n.*798T>G) c.817T>G (p.Ser273Ala) | |
| X | g.154969418A>G | CA414917906 | F8 | c.922T>C (p.Ser308Pro) c.*798T>C (n.*798T>C) c.817T>C (p.Ser273Pro) | |
| X | g.154969418A>T | CA414917903 | F8 | c.922T>A (p.Ser308Thr) c.*798T>A (n.*798T>A) c.817T>A (p.Ser273Thr) | |
| X | g.154969418_154969422del | CA2466848997 | F8 | c.918_922del (p.Glu306AspfsTer30) c.*794_*798del (n.*794_*798del) c.813_817del (p.Glu271AspfsTer30) | dbSNP |
| X | g.154969419G>A | CA519367340 | F8 | c.921C>T (p.Ile307=) c.*797C>T (n.*797C>T) c.816C>T (p.Ile272=) | |
| X | g.154969419G>C | CA414917908 | F8 | c.921C>G (p.Ile307Met) c.*797C>G (n.*797C>G) c.816C>G (p.Ile272Met) | |
| X | g.154969419G>T | CA519367342 | F8 | c.921C>A (p.Ile307=) c.*797C>A (n.*797C>A) c.816C>A (p.Ile272=) | |
| X | g.154969420A= | CA2466848998 | F8 | c.920T= (p.Ile307=) c.*796T= (n.*796T=) c.815T= (p.Ile272=) | |
| X | g.154969420A>C | CA414917909 | F8 | c.920T>G (p.Ile307Ser) c.*796T>G (n.*796T>G) c.815T>G (p.Ile272Ser) | |
| X | g.154969420A>G | CA414917910 | F8 | c.920T>C (p.Ile307Thr) c.*796T>C (n.*796T>C) c.815T>C (p.Ile272Thr) | dbSNP |
| X | g.154969420A>T | CA414917911 | F8 | c.920T>A (p.Ile307Asn) c.*796T>A (n.*796T>A) c.815T>A (p.Ile272Asn) | |
| X | g.154969421T>A | CA414917913 | F8 | c.919A>T (p.Ile307Phe) c.*795A>T (n.*795A>T) c.814A>T (p.Ile272Phe) | |
| X | g.154969421T>C | CA10568526 | F8 | c.919A>G (p.Ile307Val) c.*795A>G (n.*795A>G) c.814A>G (p.Ile272Val) | dbSNP ExAC |
| X | g.154969421T>G | CA414917915 | F8 | c.919A>C (p.Ile307Leu) c.*795A>C (n.*795A>C) c.814A>C (p.Ile272Leu) | |
| X | g.154969421T= | CA2466848999 | F8 | c.919A= (p.Ile307=) c.*795A= (n.*795A=) c.814A= (p.Ile272=) | |
| X | g.154969423del | CA2695237453 | F8 | c.919del (p.Ile307SerfsTer4) c.*795del (n.*795del) c.814del (p.Ile272SerfsTer4) | |
| X | g.154969422T>A | CA414917917 | F8 | c.918A>T (p.Glu306Asp) c.*794A>T (n.*794A>T) c.813A>T (p.Glu271Asp) | |
| X | g.154969422T>C | CA519367354 | F8 | c.918A>G (p.Glu306=) c.*794A>G (n.*794A>G) c.813A>G (p.Glu271=) | |
| X | g.154969422T>G | CA414917919 | F8 | c.918A>C (p.Glu306Asp) c.*794A>C (n.*794A>C) c.813A>C (p.Glu271Asp) | |
| X | g.154969423T>A | CA414917924 | F8 | c.917A>T (p.Glu306Val) c.*793A>T (n.*793A>T) c.812A>T (p.Glu271Val) | |
| X | g.154969423T>C | CA414917923 | F8 | c.917A>G (p.Glu306Gly) c.*793A>G (n.*793A>G) c.812A>G (p.Glu271Gly) | |
| X | g.154969423T>G | CA414917921 | F8 | c.917A>C (p.Glu306Ala) c.*793A>C (n.*793A>C) c.812A>C (p.Glu271Ala) | |
| X | g.154969424C>A | CA414917926 | F8 | c.916G>T (p.Glu306Ter) c.*792G>T (n.*792G>T) c.811G>T (p.Glu271Ter) | |
| X | g.154969424C>G | CA414917930 | F8 | c.916G>C (p.Glu306Gln) c.*792G>C (n.*792G>C) c.811G>C (p.Glu271Gln) | |
| X | g.154969424C>T | CA414917928 | F8 | c.916G>A (p.Glu306Lys) c.*792G>A (n.*792G>A) c.811G>A (p.Glu271Lys) | |
| X | g.154969425C>A | CA414917932 | F8 | c.915G>T (p.Leu305Phe) c.*791G>T (n.*791G>T) c.810G>T (p.Leu270Phe) | |
| X | g.154969425C= | CA2466849000 | F8 | c.915G= (p.Leu305=) c.*791G= (n.*791G=) c.810G= (p.Leu270=) | |
| X | g.154969425C>G | CA414917934 | F8 | c.915G>C (p.Leu305Phe) c.*791G>C (n.*791G>C) c.810G>C (p.Leu270Phe) | |
| X | g.154969425C>T | CA10568527 | F8 | c.915G>A (p.Leu305=) c.*791G>A (n.*791G>A) c.810G>A (p.Leu270=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.154969426A= | CA2466849001 | F8 | c.914T= (p.Leu305=) c.*790T= (n.*790T=) c.809T= (p.Leu270=) | |
| X | g.154969426A>C | CA414917937 | F8 | c.914T>G (p.Leu305Trp) c.*790T>G (n.*790T>G) c.809T>G (p.Leu270Trp) | dbSNP |
| X | g.154969426A>G | CA414917938 | F8 | c.914T>C (p.Leu305Ser) c.*790T>C (n.*790T>C) c.809T>C (p.Leu270Ser) | dbSNP |
| X | g.154969426A>T | CA414917940 | F8 | c.914T>A (p.Leu305Ter) c.*790T>A (n.*790T>A) c.809T>A (p.Leu270Ter) | dbSNP |
| X | g.154969427A= | CA2466849002 | F8 | c.913T= (p.Leu305=) c.*789T= (n.*789T=) c.808T= (p.Leu270=) | |
| X | g.154969427A>C | CA414917942 | F8 | c.913T>G (p.Leu305Val) c.*789T>G (n.*789T>G) c.808T>G (p.Leu270Val) | |
| X | g.154969427A>G | CA519367365 | F8 | c.913T>C (p.Leu305=) c.*789T>C (n.*789T>C) c.808T>C (p.Leu270=) | |
| X | g.154969427A>T | CA414917944 | F8 | c.913T>A (p.Leu305Met) c.*789T>A (n.*789T>A) c.808T>A (p.Leu270Met) | dbSNP |
| X | g.154969428G>A | CA519367368 | F8 | c.912C>T (p.Ser304=) c.*788C>T (n.*788C>T) c.807C>T (p.Ser269=) | |
| X | g.154969428G>C | CA519367370 | F8 | c.912C>G (p.Ser304=) c.*788C>G (n.*788C>G) c.807C>G (p.Ser269=) | |
| X | g.154969428G>T | CA519367372 | F8 | c.912C>A (p.Ser304=) c.*788C>A (n.*788C>A) c.807C>A (p.Ser269=) | |
| X | g.154969429G>A | CA414917949 | F8 | c.911C>T (p.Ser304Phe) c.*787C>T (n.*787C>T) c.806C>T (p.Ser269Phe) | |
| X | g.154969429G>C | CA414917951 | F8 | c.911C>G (p.Ser304Cys) c.*787C>G (n.*787C>G) c.806C>G (p.Ser269Cys) | |
| X | g.154969429G>T | CA414917953 | F8 | c.911C>A (p.Ser304Tyr) c.*787C>A (n.*787C>A) c.806C>A (p.Ser269Tyr) | |
| X | g.154969430A= | CA2466849003 | F8 | c.910T= (p.Ser304=) c.*786T= (n.*786T=) c.805T= (p.Ser269=) |