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.154996971_154996973del | CA2695238477 | F8 | c.388+1_388+3del c.*174+1_*174+3del c.283+1_283+3del c.370+1_370+3del | |
| X | g.154996973C>A | CA414919864 | F8 | c.388G>T (p.Gly130Ter) c.*174G>T (n.*174G>T) c.283G>T (p.Gly95Ter) c.370G>T (p.Gly124Ter) | |
| X | g.154996973C= | CA2466857753 | F8 | c.388G= (p.Gly130=) c.*174G= (n.*174G=) c.283G= (p.Gly95=) c.370G= (p.Gly124=) | |
| X | g.154996973C>G | CA255059 | F8 | c.388G>C (p.Gly130Arg) c.*174G>C (n.*174G>C) c.283G>C (p.Gly95Arg) c.370G>C (p.Gly124Arg) | ClinVar dbSNP |
| X | g.154996973C>T | CA414919865 | F8 | c.388G>A (p.Gly130Arg) c.*174G>A (n.*174G>A) c.283G>A (p.Gly95Arg) c.370G>A (p.Gly124Arg) | |
| X | g.154996974C>A | CA414919867 | F8 | c.387G>T (p.Glu129Asp) c.*173G>T (n.*173G>T) c.282G>T (p.Glu94Asp) c.369G>T (p.Glu123Asp) | COSMIC COSMIC |
| X | g.154996974C= | CA2466857754 | F8 | c.387G= (p.Glu129=) c.*173G= (n.*173G=) c.282G= (p.Glu94=) c.369G= (p.Glu123=) | |
| X | g.154996974C>G | CA414919866 | F8 | c.387G>C (p.Glu129Asp) c.*173G>C (n.*173G>C) c.282G>C (p.Glu94Asp) c.369G>C (p.Glu123Asp) | dbSNP |
| X | g.154996974C>T | CA519384091 | F8 | c.387G>A (p.Glu129=) c.*173G>A (n.*173G>A) c.282G>A (p.Glu94=) c.369G>A (p.Glu123=) | gnomAD v4 |
| X | g.154996975T>A | CA414919868 | F8 | c.386A>T (p.Glu129Val) c.*172A>T (n.*172A>T) c.281A>T (p.Glu94Val) c.368A>T (p.Glu123Val) | |
| X | g.154996975T>C | CA414919869 | F8 | c.386A>G (p.Glu129Gly) c.*172A>G (n.*172A>G) c.281A>G (p.Glu94Gly) c.368A>G (p.Glu123Gly) | |
| X | g.154996975T>G | CA414919870 | F8 | c.386A>C (p.Glu129Ala) c.*172A>C (n.*172A>C) c.281A>C (p.Glu94Ala) c.368A>C (p.Glu123Ala) | |
| X | g.154996976C>A | CA414919871 | F8 | c.385G>T (p.Glu129Ter) c.*171G>T (n.*171G>T) c.280G>T (p.Glu94Ter) c.367G>T (p.Glu123Ter) | |
| X | g.154996976C>G | CA414919872 | F8 | c.385G>C (p.Glu129Gln) c.*171G>C (n.*171G>C) c.280G>C (p.Glu94Gln) c.367G>C (p.Glu123Gln) | |
| X | g.154996976C>T | CA414919873 | F8 | c.385G>A (p.Glu129Lys) c.*171G>A (n.*171G>A) c.280G>A (p.Glu94Lys) c.367G>A (p.Glu123Lys) | |
| X | g.154996977A= | CA2466857755 | F8 | c.384T= (p.Ser128=) c.*170T= (n.*170T=) c.279T= (p.Ser93=) c.366T= (p.Ser122=) | |
| X | g.154996977A>C | CA337112252 | F8 | c.384T>G (p.Ser128=) c.*170T>G (n.*170T>G) c.279T>G (p.Ser93=) c.366T>G (p.Ser122=) | dbSNP gnomAD v4 |
| X | g.154996977A>G | CA519384092 | F8 | c.384T>C (p.Ser128=) c.*170T>C (n.*170T>C) c.279T>C (p.Ser93=) c.366T>C (p.Ser122=) | |
| X | g.154996977A>T | CA519384093 | F8 | c.384T>A (p.Ser128=) c.*170T>A (n.*170T>A) c.279T>A (p.Ser93=) c.366T>A (p.Ser122=) | gnomAD v4 |
| X | g.154996978G>A | CA414919874 | F8 | c.383C>T (p.Ser128Phe) c.*169C>T (n.*169C>T) c.278C>T (p.Ser93Phe) c.365C>T (p.Ser122Phe) | COSMIC COSMIC |
| X | g.154996978G>C | CA414919875 | F8 | c.383C>G (p.Ser128Cys) c.*169C>G (n.*169C>G) c.278C>G (p.Ser93Cys) c.365C>G (p.Ser122Cys) | |
| X | g.154996978G>T | CA414919876 | F8 | c.383C>A (p.Ser128Tyr) c.*169C>A (n.*169C>A) c.278C>A (p.Ser93Tyr) c.365C>A (p.Ser122Tyr) | COSMIC COSMIC |
| X | g.154996979A= | CA2466857756 | F8 | c.382T= (p.Ser128=) c.*168T= (n.*168T=) c.277T= (p.Ser93=) c.364T= (p.Ser122=) | |
| X | g.154996979A>C | CA414919877 | F8 | c.382T>G (p.Ser128Ala) c.*168T>G (n.*168T>G) c.277T>G (p.Ser93Ala) c.364T>G (p.Ser122Ala) | |
| X | g.154996979A>G | CA414919878 | F8 | c.382T>C (p.Ser128Pro) c.*168T>C (n.*168T>C) c.277T>C (p.Ser93Pro) c.364T>C (p.Ser122Pro) | ClinVar dbSNP |
| X | g.154996979A>T | CA414919879 | F8 | c.382T>A (p.Ser128Thr) c.*168T>A (n.*168T>A) c.277T>A (p.Ser93Thr) c.364T>A (p.Ser122Thr) | |
| X | g.154996980A>C | CA519384094 | F8 | c.381T>G (p.Ala127=) c.*167T>G (n.*167T>G) c.276T>G (p.Ala92=) c.363T>G (p.Ala121=) | |
| X | g.154996980A>G | CA519384095 | F8 | c.381T>C (p.Ala127=) c.*167T>C (n.*167T>C) c.276T>C (p.Ala92=) c.363T>C (p.Ala121=) | |
| X | g.154996980A>T | CA519384096 | F8 | c.381T>A (p.Ala127=) c.*167T>A (n.*167T>A) c.276T>A (p.Ala92=) c.363T>A (p.Ala121=) | |
| X | g.154996981G>A | CA414919880 | F8 | c.380C>T (p.Ala127Val) c.*166C>T (n.*166C>T) c.275C>T (p.Ala92Val) c.362C>T (p.Ala121Val) | gnomAD v4 |
| X | g.154996981G>C | CA414919882 | F8 | c.380C>G (p.Ala127Gly) c.*166C>G (n.*166C>G) c.275C>G (p.Ala92Gly) c.362C>G (p.Ala121Gly) | |
| X | g.154996981G>T | CA414919881 | F8 | c.380C>A (p.Ala127Asp) c.*166C>A (n.*166C>A) c.275C>A (p.Ala92Asp) c.362C>A (p.Ala121Asp) | |
| X | g.154996981_154996982delinsGC | CA2466857757 | F8 | c.379_380delinsGC (p.Ala127=) c.*165_*166delinsGC (n.*165_*166delinsGC) c.274_275delinsGC (p.Ala92=) c.361_362delinsGC (p.Ala121=) | |
| X | g.154996982del | CA873357473 | F8 | c.379del (p.Ala127LeufsTer?) c.*165del (n.*165del) c.274del (p.Ala92LeufsTer?) c.361del (p.Ala121LeufsTer?) | ClinVar dbSNP |
| X | g.154996982C>A | CA414919883 | F8 | c.379G>T (p.Ala127Ser) c.*165G>T (n.*165G>T) c.274G>T (p.Ala92Ser) c.361G>T (p.Ala121Ser) | gnomAD v4 |
| X | g.154996982C>G | CA414919884 | F8 | c.379G>C (p.Ala127Pro) c.*165G>C (n.*165G>C) c.274G>C (p.Ala92Pro) c.361G>C (p.Ala121Pro) | |
| X | g.154996982C>T | CA414919885 | F8 | c.379G>A (p.Ala127Thr) c.*165G>A (n.*165G>A) c.274G>A (p.Ala92Thr) c.361G>A (p.Ala121Thr) | |
| X | g.154996983T>A | CA414919886 | F8 | c.378A>T (p.Lys126Asn) c.*164A>T (n.*164A>T) c.273A>T (p.Lys91Asn) c.360A>T (p.Lys120Asn) | |
| X | g.154996983T>C | CA519384097 | F8 | c.378A>G (p.Lys126=) c.*164A>G (n.*164A>G) c.273A>G (p.Lys91=) c.360A>G (p.Lys120=) | |
| X | g.154996983T>G | CA414919887 | F8 | c.378A>C (p.Lys126Asn) c.*164A>C (n.*164A>C) c.273A>C (p.Lys91Asn) c.360A>C (p.Lys120Asn) | |
| X | g.154996984T>A | CA414919888 | F8 | c.377A>T (p.Lys126Ile) c.*163A>T (n.*163A>T) c.272A>T (p.Lys91Ile) c.359A>T (p.Lys120Ile) | |
| X | g.154996984T>C | CA414919889 | F8 | c.377A>G (p.Lys126Arg) c.*163A>G (n.*163A>G) c.272A>G (p.Lys91Arg) c.359A>G (p.Lys120Arg) | ClinVar dbSNP |
| X | g.154996984T>G | CA414919890 | F8 | c.377A>C (p.Lys126Thr) c.*163A>C (n.*163A>C) c.272A>C (p.Lys91Thr) c.359A>C (p.Lys120Thr) | |
| X | g.154996984T= | CA2466857758 | F8 | c.377A= (p.Lys126=) c.*163A= (n.*163A=) c.272A= (p.Lys91=) c.359A= (p.Lys120=) | |
| X | g.154996985T>A | CA414919891 | F8 | c.376A>T (p.Lys126Ter) c.*162A>T (n.*162A>T) c.271A>T (p.Lys91Ter) c.358A>T (p.Lys120Ter) | |
| X | g.154996985T>C | CA414919892 | F8 | c.376A>G (p.Lys126Glu) c.*162A>G (n.*162A>G) c.271A>G (p.Lys91Glu) c.358A>G (p.Lys120Glu) | |
| X | g.154996985T>G | CA414919893 | F8 | c.376A>C (p.Lys126Gln) c.*162A>C (n.*162A>C) c.271A>C (p.Lys91Gln) c.358A>C (p.Lys120Gln) | |
| X | g.154996986C>A | CA414919896 | F8 | c.375G>T (p.Trp125Cys) c.*161G>T (n.*161G>T) c.270G>T (p.Trp90Cys) c.357G>T (p.Trp119Cys) | COSMIC COSMIC |
| X | g.154996986C>G | CA414919895 | F8 | c.375G>C (p.Trp125Cys) c.*161G>C (n.*161G>C) c.270G>C (p.Trp90Cys) c.357G>C (p.Trp119Cys) | |
| X | g.154996986C>T | CA414919894 | F8 | c.375G>A (p.Trp125Ter) c.*161G>A (n.*161G>A) c.270G>A (p.Trp90Ter) c.357G>A (p.Trp119Ter) |