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.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 | |
| 12 | g.40263817A>T | CA479236905 | LRRK2 | c.1572A>T (p.Thr524=) c.*481A>T (n.*481A>T) c.1317A>T (p.Thr439=) c.816A>T (p.Thr272=) c.369A>T (p.Thr123=) n.1814A>T | |
| 12 | g.40263818G>A | CA384398816 | LRRK2 | c.1573G>A (p.Glu525Lys) c.*482G>A (n.*482G>A) c.1318G>A (p.Glu440Lys) c.817G>A (p.Glu273Lys) c.370G>A (p.Glu124Lys) n.1815G>A | |
| 12 | g.40263818G>C | CA384398819 | LRRK2 | c.1573G>C (p.Glu525Gln) c.*482G>C (n.*482G>C) c.1318G>C (p.Glu440Gln) c.817G>C (p.Glu273Gln) c.370G>C (p.Glu124Gln) n.1815G>C | |
| 12 | g.40263818G>T | CA384398821 | LRRK2 | c.1573G>T (p.Glu525Ter) c.*482G>T (n.*482G>T) c.1318G>T (p.Glu440Ter) c.817G>T (p.Glu273Ter) c.370G>T (p.Glu124Ter) n.1815G>T | |
| 12 | g.40263819A>C | CA384398824 | LRRK2 | c.1574A>C (p.Glu525Ala) c.*483A>C (n.*483A>C) c.1319A>C (p.Glu440Ala) c.818A>C (p.Glu273Ala) c.371A>C (p.Glu124Ala) n.1816A>C | |
| 12 | g.40263819A>G | CA384398831 | LRRK2 | c.1574A>G (p.Glu525Gly) c.*483A>G (n.*483A>G) c.1319A>G (p.Glu440Gly) c.818A>G (p.Glu273Gly) c.371A>G (p.Glu124Gly) n.1816A>G | |
| 12 | g.40263819A>T | CA384398834 | LRRK2 | c.1574A>T (p.Glu525Val) c.*483A>T (n.*483A>T) c.1319A>T (p.Glu440Val) c.818A>T (p.Glu273Val) c.371A>T (p.Glu124Val) n.1816A>T | |
| 12 | g.40263820A>C | CA384398835 | LRRK2 | c.1575A>C (p.Glu525Asp) c.*484A>C (n.*484A>C) c.1320A>C (p.Glu440Asp) c.819A>C (p.Glu273Asp) c.372A>C (p.Glu124Asp) n.1817A>C | |
| 12 | g.40263820A>G | CA479236907 | LRRK2 | c.1575A>G (p.Glu525=) c.*484A>G (n.*484A>G) c.1320A>G (p.Glu440=) c.819A>G (p.Glu273=) c.372A>G (p.Glu124=) n.1817A>G | ClinVar gnomAD v4 |
| 12 | g.40263820A>T | CA384398837 | LRRK2 | c.1575A>T (p.Glu525Asp) c.*484A>T (n.*484A>T) c.1320A>T (p.Glu440Asp) c.819A>T (p.Glu273Asp) c.372A>T (p.Glu124Asp) n.1817A>T | |
| 12 | g.40263821T>A | CA384398842 | LRRK2 | c.1576T>A (p.Phe526Ile) c.*485T>A (n.*485T>A) c.1321T>A (p.Phe441Ile) c.820T>A (p.Phe274Ile) c.373T>A (p.Phe125Ile) n.1818T>A | |
| 12 | g.40263821T>C | CA384398844 | LRRK2 | c.1576T>C (p.Phe526Leu) c.*485T>C (n.*485T>C) c.1321T>C (p.Phe441Leu) c.820T>C (p.Phe274Leu) c.373T>C (p.Phe125Leu) n.1818T>C | ClinVar gnomAD v4 |
| 12 | g.40263821T>G | CA384398840 | LRRK2 | c.1576T>G (p.Phe526Val) c.*485T>G (n.*485T>G) c.1321T>G (p.Phe441Val) c.820T>G (p.Phe274Val) c.373T>G (p.Phe125Val) n.1818T>G | |
| 12 | g.40263822T>A | CA384398847 | LRRK2 | c.1577T>A (p.Phe526Tyr) c.*486T>A (n.*486T>A) c.1322T>A (p.Phe441Tyr) c.821T>A (p.Phe274Tyr) c.374T>A (p.Phe125Tyr) n.1819T>A | ClinVar |
| 12 | g.40263822T>C | CA384398848 | LRRK2 | c.1577T>C (p.Phe526Ser) c.*486T>C (n.*486T>C) c.1322T>C (p.Phe441Ser) c.821T>C (p.Phe274Ser) c.374T>C (p.Phe125Ser) n.1819T>C | |
| 12 | g.40263822T>G | CA384398850 | LRRK2 | c.1577T>G (p.Phe526Cys) c.*486T>G (n.*486T>G) c.1322T>G (p.Phe441Cys) c.821T>G (p.Phe274Cys) c.374T>G (p.Phe125Cys) n.1819T>G | |
| 12 | g.40263823T>A | CA384398852 | LRRK2 | c.1578T>A (p.Phe526Leu) c.*487T>A (n.*487T>A) c.1323T>A (p.Phe441Leu) c.822T>A (p.Phe274Leu) c.375T>A (p.Phe125Leu) n.1820T>A | |
| 12 | g.40263823T>C | CA479236908 | LRRK2 | c.1578T>C (p.Phe526=) c.*487T>C (n.*487T>C) c.1323T>C (p.Phe441=) c.822T>C (p.Phe274=) c.375T>C (p.Phe125=) n.1820T>C | |
| 12 | g.40263823T>G | CA384398854 | LRRK2 | c.1578T>G (p.Phe526Leu) c.*487T>G (n.*487T>G) c.1323T>G (p.Phe441Leu) c.822T>G (p.Phe274Leu) c.375T>G (p.Phe125Leu) n.1820T>G | |
| 12 | g.40263827_40263829del | CA2618280663 | LRRK2 | c.1582_1584del (p.His528del) c.*491_*493del (n.*491_*493del) c.1327_1329del (p.His443del) c.826_828del (p.His276del) c.379_381del (p.His127del) n.1824_1826del | gnomAD v4 |
| 12 | g.40263824C>A | CA384398855 | LRRK2 | c.1579C>A (p.His527Asn) c.*488C>A (n.*488C>A) c.1324C>A (p.His442Asn) c.823C>A (p.His275Asn) c.376C>A (p.His126Asn) n.1821C>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.40263824C= | CA2030915931 | LRRK2 | c.1579C= (p.His527=) c.*488C= (n.*488C=) c.1324C= (p.His442=) c.823C= (p.His275=) c.376C= (p.His126=) n.1821C= | |
| 12 | g.40263824C>G | CA384398856 | LRRK2 | c.1579C>G (p.His527Asp) c.*488C>G (n.*488C>G) c.1324C>G (p.His442Asp) c.823C>G (p.His275Asp) c.376C>G (p.His126Asp) n.1821C>G | |
| 12 | g.40263824C>T | CA384398857 | LRRK2 | c.1579C>T (p.His527Tyr) c.*488C>T (n.*488C>T) c.1324C>T (p.His442Tyr) c.823C>T (p.His275Tyr) c.376C>T (p.His126Tyr) n.1821C>T | |
| 12 | g.40263825A>C | CA384398858 | LRRK2 | c.1580A>C (p.His527Pro) c.*489A>C (n.*489A>C) c.1325A>C (p.His442Pro) c.824A>C (p.His275Pro) c.377A>C (p.His126Pro) n.1822A>C | |
| 12 | g.40263825A>G | CA384398860 | LRRK2 | c.1580A>G (p.His527Arg) c.*489A>G (n.*489A>G) c.1325A>G (p.His442Arg) c.824A>G (p.His275Arg) c.377A>G (p.His126Arg) n.1822A>G | |
| 12 | g.40263825A>T | CA384398862 | LRRK2 | c.1580A>T (p.His527Leu) c.*489A>T (n.*489A>T) c.1325A>T (p.His442Leu) c.824A>T (p.His275Leu) c.377A>T (p.His126Leu) n.1822A>T |