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.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 | |
| 12 | g.40263826T>A | CA384398864 | LRRK2 | c.1581T>A (p.His527Gln) c.*490T>A (n.*490T>A) c.1326T>A (p.His442Gln) c.825T>A (p.His275Gln) c.378T>A (p.His126Gln) n.1823T>A | |
| 12 | g.40263826T>C | CA479236909 | LRRK2 | c.1581T>C (p.His527=) c.*490T>C (n.*490T>C) c.1326T>C (p.His442=) c.825T>C (p.His275=) c.378T>C (p.His126=) n.1823T>C | ClinVar |
| 12 | g.40263826T>G | CA384398865 | LRRK2 | c.1581T>G (p.His527Gln) c.*490T>G (n.*490T>G) c.1326T>G (p.His442Gln) c.825T>G (p.His275Gln) c.378T>G (p.His126Gln) n.1823T>G | |
| 12 | g.40263827C>A | CA384398871 | LRRK2 | c.1582C>A (p.His528Asn) c.*491C>A (n.*491C>A) c.1327C>A (p.His443Asn) c.826C>A (p.His276Asn) c.379C>A (p.His127Asn) n.1824C>A | |
| 12 | g.40263827C>G | CA384398869 | LRRK2 | c.1582C>G (p.His528Asp) c.*491C>G (n.*491C>G) c.1327C>G (p.His443Asp) c.826C>G (p.His276Asp) c.379C>G (p.His127Asp) n.1824C>G | |
| 12 | g.40263827C>T | CA384398868 | LRRK2 | c.1582C>T (p.His528Tyr) c.*491C>T (n.*491C>T) c.1327C>T (p.His443Tyr) c.826C>T (p.His276Tyr) c.379C>T (p.His127Tyr) n.1824C>T | |
| 12 | g.40263828A= | CA2030915933 | LRRK2 | c.1583A= (p.His528=) c.*492A= (n.*492A=) c.1328A= (p.His443=) c.827A= (p.His276=) c.380A= (p.His127=) n.1825A= | |
| 12 | g.40263828A>C | CA384398873 | LRRK2 | c.1583A>C (p.His528Pro) c.*492A>C (n.*492A>C) c.1328A>C (p.His443Pro) c.827A>C (p.His276Pro) c.380A>C (p.His127Pro) n.1825A>C | dbSNP gnomAD v4 |
| 12 | g.40263828A>G | CA384398874 | LRRK2 | c.1583A>G (p.His528Arg) c.*492A>G (n.*492A>G) c.1328A>G (p.His443Arg) c.827A>G (p.His276Arg) c.380A>G (p.His127Arg) n.1825A>G | |
| 12 | g.40263828A>T | CA384398875 | LRRK2 | c.1583A>T (p.His528Leu) c.*492A>T (n.*492A>T) c.1328A>T (p.His443Leu) c.827A>T (p.His276Leu) c.380A>T (p.His127Leu) n.1825A>T | |
| 12 | g.40263829T>A | CA384398878 | LRRK2 | c.1584T>A (p.His528Gln) c.*493T>A (n.*493T>A) c.1329T>A (p.His443Gln) c.828T>A (p.His276Gln) c.381T>A (p.His127Gln) n.1826T>A | |
| 12 | g.40263829T>C | CA479236910 | LRRK2 | c.1584T>C (p.His528=) c.*493T>C (n.*493T>C) c.1329T>C (p.His443=) c.828T>C (p.His276=) c.381T>C (p.His127=) n.1826T>C | ClinVar gnomAD v4 |
| 12 | g.40263829T>G | CA384398879 | LRRK2 | c.1584T>G (p.His528Gln) c.*493T>G (n.*493T>G) c.1329T>G (p.His443Gln) c.828T>G (p.His276Gln) c.381T>G (p.His127Gln) n.1826T>G | |
| 12 | g.40263829_40263832del | CA2618280664 | LRRK2 | c.1584_1587del (p.Lys529Ter) c.*493_*496del (n.*493_*496del) c.1329_1332del (p.Lys444Ter) c.828_831del (p.Lys277Ter) c.381_384del (p.Lys128Ter) n.1826_1829del | gnomAD v4 |
| 12 | g.40263830A>C | CA384398881 | LRRK2 | c.1585A>C (p.Lys529Gln) c.*494A>C (n.*494A>C) c.1330A>C (p.Lys444Gln) c.829A>C (p.Lys277Gln) c.382A>C (p.Lys128Gln) n.1827A>C | |
| 12 | g.40263830A>G | CA384398883 | LRRK2 | c.1585A>G (p.Lys529Glu) c.*494A>G (n.*494A>G) c.1330A>G (p.Lys444Glu) c.829A>G (p.Lys277Glu) c.382A>G (p.Lys128Glu) n.1827A>G | |
| 12 | g.40263830A>T | CA384398885 | LRRK2 | c.1585A>T (p.Lys529Ter) c.*494A>T (n.*494A>T) c.1330A>T (p.Lys444Ter) c.829A>T (p.Lys277Ter) c.382A>T (p.Lys128Ter) n.1827A>T | |
| 12 | g.40263831A= | CA2030915938 | LRRK2 | c.1586A= (p.Lys529=) c.*495A= (n.*495A=) c.1331A= (p.Lys444=) c.830A= (p.Lys277=) c.383A= (p.Lys128=) n.1828A= | |
| 12 | g.40263831A>C | CA384398887 | LRRK2 | c.1586A>C (p.Lys529Thr) c.*495A>C (n.*495A>C) c.1331A>C (p.Lys444Thr) c.830A>C (p.Lys277Thr) c.383A>C (p.Lys128Thr) n.1828A>C | |
| 12 | g.40263831A>G | CA384398888 | LRRK2 | c.1586A>G (p.Lys529Arg) c.*495A>G (n.*495A>G) c.1331A>G (p.Lys444Arg) c.830A>G (p.Lys277Arg) c.383A>G (p.Lys128Arg) n.1828A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40263831A>T | CA384398889 | LRRK2 | c.1586A>T (p.Lys529Met) c.*495A>T (n.*495A>T) c.1331A>T (p.Lys444Met) c.830A>T (p.Lys277Met) c.383A>T (p.Lys128Met) n.1828A>T |