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 |
|---|---|---|---|---|---|
| 12 | g.40263803T>A | CA384398726 | LRRK2 | c.1558T>A (p.Ser520Thr) c.*467T>A (n.*467T>A) c.1303T>A (p.Ser435Thr) c.802T>A (p.Ser268Thr) c.355T>A (p.Ser119Thr) n.1800T>A | |
| 12 | g.40263803T>C | CA384398730 | LRRK2 | c.1558T>C (p.Ser520Pro) c.*467T>C (n.*467T>C) c.1303T>C (p.Ser435Pro) c.802T>C (p.Ser268Pro) c.355T>C (p.Ser119Pro) n.1800T>C | |
| 12 | g.40263803T>G | CA384398729 | LRRK2 | c.1558T>G (p.Ser520Ala) c.*467T>G (n.*467T>G) c.1303T>G (p.Ser435Ala) c.802T>G (p.Ser268Ala) c.355T>G (p.Ser119Ala) n.1800T>G | |
| 12 | g.40263804C>A | CA384398733 | LRRK2 | c.1559C>A (p.Ser520Tyr) c.*468C>A (n.*468C>A) c.1304C>A (p.Ser435Tyr) c.803C>A (p.Ser268Tyr) c.356C>A (p.Ser119Tyr) n.1801C>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.40263804C= | CA2030915871 | LRRK2 | c.1559C= (p.Ser520=) c.*468C= (n.*468C=) c.1304C= (p.Ser435=) c.803C= (p.Ser268=) c.356C= (p.Ser119=) n.1801C= | |
| 12 | g.40263804C>G | CA384398736 | LRRK2 | c.1559C>G (p.Ser520Cys) c.*468C>G (n.*468C>G) c.1304C>G (p.Ser435Cys) c.803C>G (p.Ser268Cys) c.356C>G (p.Ser119Cys) n.1801C>G | |
| 12 | g.40263804C>T | CA384398739 | LRRK2 | c.1559C>T (p.Ser520Phe) c.*468C>T (n.*468C>T) c.1304C>T (p.Ser435Phe) c.803C>T (p.Ser268Phe) c.356C>T (p.Ser119Phe) n.1801C>T | |
| 12 | g.40263805C>A | CA479236898 | LRRK2 | c.1560C>A (p.Ser520=) c.*469C>A (n.*469C>A) c.1305C>A (p.Ser435=) c.804C>A (p.Ser268=) c.357C>A (p.Ser119=) n.1802C>A | |
| 12 | g.40263805C>G | CA479236899 | LRRK2 | c.1560C>G (p.Ser520=) c.*469C>G (n.*469C>G) c.1305C>G (p.Ser435=) c.804C>G (p.Ser268=) c.357C>G (p.Ser119=) n.1802C>G | ClinVar |
| 12 | g.40263805C>T | CA479236900 | LRRK2 | c.1560C>T (p.Ser520=) c.*469C>T (n.*469C>T) c.1305C>T (p.Ser435=) c.804C>T (p.Ser268=) c.357C>T (p.Ser119=) n.1802C>T | gnomAD v4 |
| 12 | g.40263806A= | CA2030915879 | LRRK2 | c.1561A= (p.Arg521=) c.*470A= (n.*470A=) c.1306A= (p.Arg436=) c.805A= (p.Arg269=) c.358A= (p.Arg120=) n.1803A= | |
| 12 | g.40263806A>C | CA479236901 | LRRK2 | c.1561A>C (p.Arg521=) c.*470A>C (n.*470A>C) c.1306A>C (p.Arg436=) c.805A>C (p.Arg269=) c.358A>C (p.Arg120=) n.1803A>C | |
| 12 | g.40263806A>G | CA343485 | LRRK2 | c.1561A>G (p.Arg521Gly) c.*470A>G (n.*470A>G) c.1306A>G (p.Arg436Gly) c.805A>G (p.Arg269Gly) c.358A>G (p.Arg120Gly) n.1803A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40263806A>T | CA384398742 | LRRK2 | c.1561A>T (p.Arg521Trp) c.*470A>T (n.*470A>T) c.1306A>T (p.Arg436Trp) c.805A>T (p.Arg269Trp) c.358A>T (p.Arg120Trp) n.1803A>T | |
| 12 | g.40263807G>A | CA384398745 | LRRK2 | c.1562G>A (p.Arg521Lys) c.*471G>A (n.*471G>A) c.1307G>A (p.Arg436Lys) c.806G>A (p.Arg269Lys) c.359G>A (p.Arg120Lys) n.1804G>A | |
| 12 | g.40263807G>C | CA384398747 | LRRK2 | c.1562G>C (p.Arg521Thr) c.*471G>C (n.*471G>C) c.1307G>C (p.Arg436Thr) c.806G>C (p.Arg269Thr) c.359G>C (p.Arg120Thr) n.1804G>C | |
| 12 | g.40263807G>T | CA384398749 | LRRK2 | c.1562G>T (p.Arg521Met) c.*471G>T (n.*471G>T) c.1307G>T (p.Arg436Met) c.806G>T (p.Arg269Met) c.359G>T (p.Arg120Met) n.1804G>T | ClinVar |
| 12 | g.40263808G>A | CA479236902 | LRRK2 | c.1563G>A (p.Arg521=) c.*472G>A (n.*472G>A) c.1308G>A (p.Arg436=) c.807G>A (p.Arg269=) c.360G>A (p.Arg120=) n.1805G>A | gnomAD v4 |
| 12 | g.40263808G>C | CA384398752 | LRRK2 | c.1563G>C (p.Arg521Ser) c.*472G>C (n.*472G>C) c.1308G>C (p.Arg436Ser) c.807G>C (p.Arg269Ser) c.360G>C (p.Arg120Ser) n.1805G>C | |
| 12 | g.40263808G>T | CA384398755 | LRRK2 | c.1563G>T (p.Arg521Ser) c.*472G>T (n.*472G>T) c.1308G>T (p.Arg436Ser) c.807G>T (p.Arg269Ser) c.360G>T (p.Arg120Ser) n.1805G>T | |
| 12 | g.40263809G>A | CA384398766 | LRRK2 | c.1564G>A (p.Glu522Lys) c.*473G>A (n.*473G>A) c.1309G>A (p.Glu437Lys) c.808G>A (p.Glu270Lys) c.361G>A (p.Glu121Lys) n.1806G>A | ClinVar gnomAD v4 COSMIC COSMIC |
| 12 | g.40263809G>C | CA384398761 | LRRK2 | c.1564G>C (p.Glu522Gln) c.*473G>C (n.*473G>C) c.1309G>C (p.Glu437Gln) c.808G>C (p.Glu270Gln) c.361G>C (p.Glu121Gln) n.1806G>C | |
| 12 | g.40263809G>T | CA384398760 | LRRK2 | c.1564G>T (p.Glu522Ter) c.*473G>T (n.*473G>T) c.1309G>T (p.Glu437Ter) c.808G>T (p.Glu270Ter) c.361G>T (p.Glu121Ter) n.1806G>T | |
| 12 | g.40263810A= | CA2030915888 | LRRK2 | c.1565A= (p.Glu522=) c.*474A= (n.*474A=) c.1310A= (p.Glu437=) c.809A= (p.Glu270=) c.362A= (p.Glu121=) n.1807A= | |
| 12 | g.40263810A>C | CA384398769 | LRRK2 | c.1565A>C (p.Glu522Ala) c.*474A>C (n.*474A>C) c.1310A>C (p.Glu437Ala) c.809A>C (p.Glu270Ala) c.362A>C (p.Glu121Ala) n.1807A>C | |
| 12 | g.40263810A>G | CA6513403 | LRRK2 | c.1565A>G (p.Glu522Gly) c.*474A>G (n.*474A>G) c.1310A>G (p.Glu437Gly) c.809A>G (p.Glu270Gly) c.362A>G (p.Glu121Gly) n.1807A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.40263810A>T | CA384398774 | LRRK2 | c.1565A>T (p.Glu522Val) c.*474A>T (n.*474A>T) c.1310A>T (p.Glu437Val) c.809A>T (p.Glu270Val) c.362A>T (p.Glu121Val) n.1807A>T | |
| 12 | g.40263811G>A | CA6513404 | LRRK2 | c.1566G>A (p.Glu522=) c.*475G>A (n.*475G>A) c.1311G>A (p.Glu437=) c.810G>A (p.Glu270=) c.363G>A (p.Glu121=) n.1808G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.40263811G>C | CA384398778 | LRRK2 | c.1566G>C (p.Glu522Asp) c.*475G>C (n.*475G>C) c.1311G>C (p.Glu437Asp) c.810G>C (p.Glu270Asp) c.363G>C (p.Glu121Asp) n.1808G>C | |
| 12 | g.40263811G= | CA2030915901 | LRRK2 | c.1566G= (p.Glu522=) c.*475G= (n.*475G=) c.1311G= (p.Glu437=) c.810G= (p.Glu270=) c.363G= (p.Glu121=) n.1808G= | |
| 12 | g.40263811G>T | CA384398781 | LRRK2 | c.1566G>T (p.Glu522Asp) c.*475G>T (n.*475G>T) c.1311G>T (p.Glu437Asp) c.810G>T (p.Glu270Asp) c.363G>T (p.Glu121Asp) n.1808G>T | |
| 12 | g.40263812G>A | CA384398785 | LRRK2 | c.1567G>A (p.Asp523Asn) c.*476G>A (n.*476G>A) c.1312G>A (p.Asp438Asn) c.811G>A (p.Asp271Asn) c.364G>A (p.Asp122Asn) n.1809G>A | |
| 12 | g.40263812G>C | CA384398787 | LRRK2 | c.1567G>C (p.Asp523His) c.*476G>C (n.*476G>C) c.1312G>C (p.Asp438His) c.811G>C (p.Asp271His) c.364G>C (p.Asp122His) n.1809G>C | |
| 12 | g.40263812G>T | CA384398789 | LRRK2 | c.1567G>T (p.Asp523Tyr) c.*476G>T (n.*476G>T) c.1312G>T (p.Asp438Tyr) c.811G>T (p.Asp271Tyr) c.364G>T (p.Asp122Tyr) n.1809G>T | gnomAD v4 |
| 12 | g.40263813A>C | CA384398791 | LRRK2 | c.1568A>C (p.Asp523Ala) c.*477A>C (n.*477A>C) c.1313A>C (p.Asp438Ala) c.812A>C (p.Asp271Ala) c.365A>C (p.Asp122Ala) n.1810A>C | |
| 12 | g.40263813A>G | CA384398795 | LRRK2 | c.1568A>G (p.Asp523Gly) c.*477A>G (n.*477A>G) c.1313A>G (p.Asp438Gly) c.812A>G (p.Asp271Gly) c.365A>G (p.Asp122Gly) n.1810A>G | |
| 12 | g.40263813A>T | CA384398797 | LRRK2 | c.1568A>T (p.Asp523Val) c.*477A>T (n.*477A>T) c.1313A>T (p.Asp438Val) c.812A>T (p.Asp271Val) c.365A>T (p.Asp122Val) n.1810A>T | ClinVar gnomAD v4 |
| 12 | g.40263814T>A | CA6513405 | LRRK2 | c.1569T>A (p.Asp523Glu) c.*478T>A (n.*478T>A) c.1314T>A (p.Asp438Glu) c.813T>A (p.Asp271Glu) c.366T>A (p.Asp122Glu) n.1811T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.40263814T>C | CA479236903 | LRRK2 | c.1569T>C (p.Asp523=) c.*478T>C (n.*478T>C) c.1314T>C (p.Asp438=) c.813T>C (p.Asp271=) c.366T>C (p.Asp122=) n.1811T>C | |
| 12 | g.40263814T>G | CA384398801 | LRRK2 | c.1569T>G (p.Asp523Glu) c.*478T>G (n.*478T>G) c.1314T>G (p.Asp438Glu) c.813T>G (p.Asp271Glu) c.366T>G (p.Asp122Glu) n.1811T>G | |
| 12 | g.40263814T= | CA2030915913 | LRRK2 | c.1569T= (p.Asp523=) c.*478T= (n.*478T=) c.1314T= (p.Asp438=) c.813T= (p.Asp271=) c.366T= (p.Asp122=) n.1811T= | |
| 12 | g.40263815A= | CA2030915922 | LRRK2 | c.1570A= (p.Thr524=) c.*479A= (n.*479A=) c.1315A= (p.Thr439=) c.814A= (p.Thr272=) c.367A= (p.Thr123=) n.1812A= | |
| 12 | g.40263815A>C | CA384398809 | LRRK2 | c.1570A>C (p.Thr524Pro) c.*479A>C (n.*479A>C) c.1315A>C (p.Thr439Pro) c.814A>C (p.Thr272Pro) c.367A>C (p.Thr123Pro) n.1812A>C | |
| 12 | g.40263815A>G | CA384398804 | LRRK2 | c.1570A>G (p.Thr524Ala) c.*479A>G (n.*479A>G) c.1315A>G (p.Thr439Ala) c.814A>G (p.Thr272Ala) c.367A>G (p.Thr123Ala) n.1812A>G | dbSNP |
| 12 | g.40263815A>T | CA384398807 | LRRK2 | c.1570A>T (p.Thr524Ser) c.*479A>T (n.*479A>T) c.1315A>T (p.Thr439Ser) c.814A>T (p.Thr272Ser) c.367A>T (p.Thr123Ser) n.1812A>T | |
| 12 | g.40263816C>A | CA384398812 | LRRK2 | c.1571C>A (p.Thr524Lys) c.*480C>A (n.*480C>A) c.1316C>A (p.Thr439Lys) c.815C>A (p.Thr272Lys) c.368C>A (p.Thr123Lys) n.1813C>A | gnomAD v4 |
| 12 | g.40263816C>G | CA384398813 | LRRK2 | c.1571C>G (p.Thr524Arg) c.*480C>G (n.*480C>G) c.1316C>G (p.Thr439Arg) c.815C>G (p.Thr272Arg) c.368C>G (p.Thr123Arg) n.1813C>G | |
| 12 | g.40263816C>T | CA384398814 | LRRK2 | c.1571C>T (p.Thr524Ile) c.*480C>T (n.*480C>T) c.1316C>T (p.Thr439Ile) c.815C>T (p.Thr272Ile) c.368C>T (p.Thr123Ile) n.1813C>T | |
| 12 | g.40263817A>C | CA479236904 | LRRK2 | c.1572A>C (p.Thr524=) c.*481A>C (n.*481A>C) c.1317A>C (p.Thr439=) c.816A>C (p.Thr272=) c.369A>C (p.Thr123=) n.1814A>C | |
| 12 | g.40263817A>G | CA479236906 | LRRK2 | c.1572A>G (p.Thr524=) c.*481A>G (n.*481A>G) c.1317A>G (p.Thr439=) c.816A>G (p.Thr272=) c.369A>G (p.Thr123=) n.1814A>G |