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 |
|---|---|---|---|---|---|
| 11 | g.68357702A>C | CA381611737 | LRP5 | c.541A>C (p.Met181Leu) c.-1225A>C (n.-1225A>C) c.568A>C (p.Met190Leu) n.583A>C | |
| 11 | g.68357702A>G | CA381611736 | LRP5 | c.541A>G (p.Met181Val) c.-1225A>G (n.-1225A>G) c.568A>G (p.Met190Val) n.583A>G | |
| 11 | g.68357702A>T | CA381611735 | LRP5 | c.541A>T (p.Met181Leu) c.-1225A>T (n.-1225A>T) c.568A>T (p.Met190Leu) n.583A>T | |
| 11 | g.68357703T>A | CA381611738 | LRP5 | c.542T>A (p.Met181Lys) c.-1224T>A (n.-1224T>A) c.569T>A (p.Met190Lys) n.584T>A | |
| 11 | g.68357703T>C | CA381611739 | LRP5 | c.542T>C (p.Met181Thr) c.-1224T>C (n.-1224T>C) c.569T>C (p.Met190Thr) n.584T>C | |
| 11 | g.68357703T>G | CA381611740 | LRP5 | c.542T>G (p.Met181Arg) c.-1224T>G (n.-1224T>G) c.569T>G (p.Met190Arg) n.584T>G | dbSNP |
| 11 | g.68357704G>A | CA381611741 | LRP5 | c.543G>A (p.Met181Ile) c.-1223G>A (n.-1223G>A) c.570G>A (p.Met190Ile) n.585G>A | |
| 11 | g.68357704G>C | CA381611742 | LRP5 | c.543G>C (p.Met181Ile) c.-1223G>C (n.-1223G>C) c.570G>C (p.Met190Ile) n.585G>C | |
| 11 | g.68357704G>T | CA381611743 | LRP5 | c.543G>T (p.Met181Ile) c.-1223G>T (n.-1223G>T) c.570G>T (p.Met190Ile) n.585G>T | |
| 11 | g.68357705G>A | CA381611744 | LRP5 | c.544G>A (p.Asp182Asn) c.-1222G>A (n.-1222G>A) c.571G>A (p.Asp191Asn) n.586G>A | |
| 11 | g.68357705G>C | CA381611745 | LRP5 | c.544G>C (p.Asp182His) c.-1222G>C (n.-1222G>C) c.571G>C (p.Asp191His) n.586G>C | |
| 11 | g.68357705G>T | CA381611746 | LRP5 | c.544G>T (p.Asp182Tyr) c.-1222G>T (n.-1222G>T) c.571G>T (p.Asp191Tyr) n.586G>T | |
| 11 | g.68357706A= | CA1980639722 | LRP5 | c.545A= (p.Asp182=) c.-1221A= (n.-1221A=) c.572A= (p.Asp191=) n.587A= | |
| 11 | g.68357706A>C | CA381611747 | LRP5 | c.545A>C (p.Asp182Ala) c.-1221A>C (n.-1221A>C) c.572A>C (p.Asp191Ala) n.587A>C | |
| 11 | g.68357706A>G | CA381611748 | LRP5 | c.545A>G (p.Asp182Gly) c.-1221A>G (n.-1221A>G) c.572A>G (p.Asp191Gly) n.587A>G | dbSNP gnomAD v4 |
| 11 | g.68357706A>T | CA381611749 | LRP5 | c.545A>T (p.Asp182Val) c.-1221A>T (n.-1221A>T) c.572A>T (p.Asp191Val) n.587A>T | |
| 11 | g.68357707T>A | CA381611751 | LRP5 | c.546T>A (p.Asp182Glu) c.-1220T>A (n.-1220T>A) c.573T>A (p.Asp191Glu) n.588T>A | |
| 11 | g.68357707T>C | CA475460140 | LRP5 | c.546T>C (p.Asp182=) c.-1220T>C (n.-1220T>C) c.573T>C (p.Asp191=) n.588T>C | |
| 11 | g.68357707T>G | CA381611750 | LRP5 | c.546T>G (p.Asp182Glu) c.-1220T>G (n.-1220T>G) c.573T>G (p.Asp191Glu) n.588T>G | |
| 11 | g.68357708G>A | CA381611752 | LRP5 | c.547G>A (p.Gly183Ser) c.-1219G>A (n.-1219G>A) c.574G>A (p.Gly192Ser) n.589G>A | |
| 11 | g.68357708G>C | CA381611753 | LRP5 | c.547G>C (p.Gly183Arg) c.-1219G>C (n.-1219G>C) c.574G>C (p.Gly192Arg) n.589G>C | |
| 11 | g.68357708G>T | CA381611754 | LRP5 | c.547G>T (p.Gly183Cys) c.-1219G>T (n.-1219G>T) c.574G>T (p.Gly192Cys) n.589G>T | |
| 11 | g.68357709G>A | CA381611755 | LRP5 | c.548G>A (p.Gly183Asp) c.-1218G>A (n.-1218G>A) c.575G>A (p.Gly192Asp) n.590G>A | |
| 11 | g.68357709G>C | CA381611756 | LRP5 | c.548G>C (p.Gly183Ala) c.-1218G>C (n.-1218G>C) c.575G>C (p.Gly192Ala) n.590G>C | |
| 11 | g.68357709G>T | CA381611757 | LRP5 | c.548G>T (p.Gly183Val) c.-1218G>T (n.-1218G>T) c.575G>T (p.Gly192Val) n.590G>T | gnomAD v4 |
| 11 | g.68357710C>A | CA475460141 | LRP5 | c.549C>A (p.Gly183=) c.-1217C>A (n.-1217C>A) c.576C>A (p.Gly192=) n.591C>A | |
| 11 | g.68357710C>G | CA475460142 | LRP5 | c.549C>G (p.Gly183=) c.-1217C>G (n.-1217C>G) c.576C>G (p.Gly192=) n.591C>G | |
| 11 | g.68357710C>T | CA475460143 | LRP5 | c.549C>T (p.Gly183=) c.-1217C>T (n.-1217C>T) c.576C>T (p.Gly192=) n.591C>T | |
| 11 | g.68357711A>C | CA381611760 | LRP5 | c.550A>C (p.Ser184Arg) c.-1216A>C (n.-1216A>C) c.577A>C (p.Ser193Arg) n.592A>C | |
| 11 | g.68357711A>G | CA381611759 | LRP5 | c.550A>G (p.Ser184Gly) c.-1216A>G (n.-1216A>G) c.577A>G (p.Ser193Gly) n.592A>G | |
| 11 | g.68357711A>T | CA381611758 | LRP5 | c.550A>T (p.Ser184Cys) c.-1216A>T (n.-1216A>T) c.577A>T (p.Ser193Cys) n.592A>T | |
| 11 | g.68357712G>A | CA6149048 | LRP5 | c.551G>A (p.Ser184Asn) c.-1215G>A (n.-1215G>A) c.578G>A (p.Ser193Asn) n.593G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68357712G>C | CA381611761 | LRP5 | c.551G>C (p.Ser184Thr) c.-1215G>C (n.-1215G>C) c.578G>C (p.Ser193Thr) n.593G>C | |
| 11 | g.68357712G= | CA1980639725 | LRP5 | c.551G= (p.Ser184=) c.-1215G= (n.-1215G=) c.578G= (p.Ser193=) n.593G= | |
| 11 | g.68357712G>T | CA381611762 | LRP5 | c.551G>T (p.Ser184Ile) c.-1215G>T (n.-1215G>T) c.578G>T (p.Ser193Ile) n.593G>T | |
| 11 | g.68357713C>A | CA381611763 | LRP5 | c.552C>A (p.Ser184Arg) c.-1214C>A (n.-1214C>A) c.579C>A (p.Ser193Arg) n.594C>A | |
| 11 | g.68357713C= | CA1980639728 | LRP5 | c.552C= (p.Ser184=) c.-1214C= (n.-1214C=) c.579C= (p.Ser193=) n.594C= | |
| 11 | g.68357713C>G | CA381611764 | LRP5 | c.552C>G (p.Ser184Arg) c.-1214C>G (n.-1214C>G) c.579C>G (p.Ser193Arg) n.594C>G | |
| 11 | g.68357713C>T | CA6149049 | LRP5 | c.552C>T (p.Ser184=) c.-1214C>T (n.-1214C>T) c.579C>T (p.Ser193=) n.594C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68357714A= | CA1980639731 | LRP5 | c.553A= (p.Thr185=) c.-1213A= (n.-1213A=) c.580A= (p.Thr194=) n.595A= | |
| 11 | g.68357714A>C | CA6149050 | LRP5 | c.553A>C (p.Thr185Pro) c.-1213A>C (n.-1213A>C) c.580A>C (p.Thr194Pro) n.595A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68357714A>G | CA381611766 | LRP5 | c.553A>G (p.Thr185Ala) c.-1213A>G (n.-1213A>G) c.580A>G (p.Thr194Ala) n.595A>G | |
| 11 | g.68357714A>T | CA381611765 | LRP5 | c.553A>T (p.Thr185Ser) c.-1213A>T (n.-1213A>T) c.580A>T (p.Thr194Ser) n.595A>T | |
| 11 | g.68357715C>A | CA381611767 | LRP5 | c.554C>A (p.Thr185Asn) c.-1212C>A (n.-1212C>A) c.581C>A (p.Thr194Asn) n.596C>A | |
| 11 | g.68357715C>G | CA381611768 | LRP5 | c.554C>G (p.Thr185Ser) c.-1212C>G (n.-1212C>G) c.581C>G (p.Thr194Ser) n.596C>G | |
| 11 | g.68357715C>T | CA381611769 | LRP5 | c.554C>T (p.Thr185Ile) c.-1212C>T (n.-1212C>T) c.581C>T (p.Thr194Ile) n.596C>T | |
| 11 | g.68357716C>A | CA475460144 | LRP5 | c.555C>A (p.Thr185=) c.-1211C>A (n.-1211C>A) c.582C>A (p.Thr194=) n.597C>A | |
| 11 | g.68357716C>G | CA475460145 | LRP5 | c.555C>G (p.Thr185=) c.-1211C>G (n.-1211C>G) c.582C>G (p.Thr194=) n.597C>G | gnomAD v4 |
| 11 | g.68357716C>T | CA475460146 | LRP5 | c.555C>T (p.Thr185=) c.-1211C>T (n.-1211C>T) c.582C>T (p.Thr194=) n.597C>T | |
| 11 | g.68357717C>A | CA475460147 | LRP5 | c.556C>A (p.Arg186=) c.-1210C>A (n.-1210C>A) c.583C>A (p.Arg195=) n.598C>A |