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.154996967A>C | CA2695170240 | F8 | c.388+6T>G (n.388+6T>G) c.*174+6T>G (n.*174+6T>G) c.283+6T>G (n.283+6T>G) c.370+6T>G (n.370+6T>G) | gnomAD v4 |
| X | g.154996967A>G | CA2695170241 | F8 | c.388+6T>C (n.388+6T>C) c.*174+6T>C (n.*174+6T>C) c.283+6T>C (n.283+6T>C) c.370+6T>C (n.370+6T>C) | gnomAD v4 |
| X | g.154996967A>T | CA2695170242 | F8 | c.388+6T>A (n.388+6T>A) c.*174+6T>A (n.*174+6T>A) c.283+6T>A (n.283+6T>A) c.370+6T>A (n.370+6T>A) | gnomAD v4 |
| X | g.154996969_154996972del | CA2695238473 | F8 | c.388+3_388+6del (n.388+3_388+6del) c.*174+3_*174+6del (n.*174+3_*174+6del) c.283+3_283+6del (n.283+3_283+6del) c.370+3_370+6del (n.370+3_370+6del) | |
| X | g.154996968C>A | CA2695238474 | F8 | c.388+5G>T (n.388+5G>T) c.*174+5G>T (n.*174+5G>T) c.283+5G>T (n.283+5G>T) c.370+5G>T (n.370+5G>T) | |
| X | g.154996968C= | CA2466857750 | F8 | c.388+5G= (n.388+5G=) c.*174+5G= (n.*174+5G=) c.283+5G= (n.283+5G=) c.370+5G= (n.370+5G=) | |
| X | g.154996968C>G | CA2695238475 | F8 | c.388+5G>C (n.388+5G>C) c.*174+5G>C (n.*174+5G>C) c.283+5G>C (n.283+5G>C) c.370+5G>C (n.370+5G>C) | |
| X | g.154996968C>T | CA873357439 | F8 | c.388+5G>A (n.388+5G>A) c.*174+5G>A (n.*174+5G>A) c.283+5G>A (n.283+5G>A) c.370+5G>A (n.370+5G>A) | dbSNP |
| X | g.154996969del | CA2695238476 | F8 | c.388+4del (n.388+4del) c.*174+4del (n.*174+4del) c.283+4del (n.283+4del) c.370+4del (n.370+4del) | |
| X | g.154996970C= | CA2466857751 | F8 | c.388+3G= (n.388+3G=) c.*174+3G= (n.*174+3G=) c.283+3G= (n.283+3G=) c.370+3G= (n.370+3G=) | |
| X | g.154996970C>T | CA645250350 | F8 | c.388+3G>A (n.388+3G>A) c.*174+3G>A (n.*174+3G>A) c.283+3G>A (n.283+3G>A) c.370+3G>A (n.370+3G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 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.154996971A>C | CA414919858 | F8 | c.388+2T>G (n.388+2T>G) c.*174+2T>G (n.*174+2T>G) c.283+2T>G (n.283+2T>G) c.370+2T>G (n.370+2T>G) | |
| X | g.154996971A>G | CA414919859 | F8 | c.388+2T>C (n.388+2T>C) c.*174+2T>C (n.*174+2T>C) c.283+2T>C (n.283+2T>C) c.370+2T>C (n.370+2T>C) | |
| X | g.154996971A>T | CA414919860 | F8 | c.388+2T>A (n.388+2T>A) c.*174+2T>A (n.*174+2T>A) c.283+2T>A (n.283+2T>A) c.370+2T>A (n.370+2T>A) | |
| X | g.154996972C>A | CA414919861 | F8 | c.388+1G>T (n.388+1G>T) c.*174+1G>T (n.*174+1G>T) c.283+1G>T (n.283+1G>T) c.370+1G>T (n.370+1G>T) | |
| X | g.154996972C= | CA2466857752 | F8 | c.388+1G= (n.388+1G=) c.*174+1G= (n.*174+1G=) c.283+1G= (n.283+1G=) c.370+1G= (n.370+1G=) | |
| X | g.154996972C>G | CA414919862 | F8 | c.388+1G>C (n.388+1G>C) c.*174+1G>C (n.*174+1G>C) c.283+1G>C (n.283+1G>C) c.370+1G>C (n.370+1G>C) | |
| X | g.154996972C>T | CA414919863 | F8 | c.388+1G>A (n.388+1G>A) c.*174+1G>A (n.*174+1G>A) c.283+1G>A (n.283+1G>A) c.370+1G>A (n.370+1G>A) | ClinVar dbSNP |
| 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) |