UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.40263798A>C | CA384398696 | LRRK2 | c.1553A>C (p.Glu518Ala) c.*462A>C (n.*462A>C) c.1298A>C (p.Glu433Ala) c.797A>C (p.Glu266Ala) c.350A>C (p.Glu117Ala) n.1795A>C | ClinVar |
| 12 | g.40263798A>G | CA384398699 | LRRK2 | c.1553A>G (p.Glu518Gly) c.*462A>G (n.*462A>G) c.1298A>G (p.Glu433Gly) c.797A>G (p.Glu266Gly) c.350A>G (p.Glu117Gly) n.1795A>G | |
| 12 | g.40263798A>T | CA384398701 | LRRK2 | c.1553A>T (p.Glu518Val) c.*462A>T (n.*462A>T) c.1298A>T (p.Glu433Val) c.797A>T (p.Glu266Val) c.350A>T (p.Glu117Val) n.1795A>T | |
| 12 | g.40263799A>C | CA384398704 | LRRK2 | c.1554A>C (p.Glu518Asp) c.*463A>C (n.*463A>C) c.1299A>C (p.Glu433Asp) c.798A>C (p.Glu266Asp) c.351A>C (p.Glu117Asp) n.1796A>C | |
| 12 | g.40263799A>G | CA479236896 | LRRK2 | c.1554A>G (p.Glu518=) c.*463A>G (n.*463A>G) c.1299A>G (p.Glu433=) c.798A>G (p.Glu266=) c.351A>G (p.Glu117=) n.1796A>G | |
| 12 | g.40263799A>T | CA384398706 | LRRK2 | c.1554A>T (p.Glu518Asp) c.*463A>T (n.*463A>T) c.1299A>T (p.Glu433Asp) c.798A>T (p.Glu266Asp) c.351A>T (p.Glu117Asp) n.1796A>T | |
| 12 | g.40263800G>A | CA384398710 | LRRK2 | c.1555G>A (p.Glu519Lys) c.*464G>A (n.*464G>A) c.1300G>A (p.Glu434Lys) c.799G>A (p.Glu267Lys) c.352G>A (p.Glu118Lys) n.1797G>A | gnomAD v4 |
| 12 | g.40263800G>C | CA384398712 | LRRK2 | c.1555G>C (p.Glu519Gln) c.*464G>C (n.*464G>C) c.1300G>C (p.Glu434Gln) c.799G>C (p.Glu267Gln) c.352G>C (p.Glu118Gln) n.1797G>C | |
| 12 | g.40263800G>T | CA384398715 | LRRK2 | c.1555G>T (p.Glu519Ter) c.*464G>T (n.*464G>T) c.1300G>T (p.Glu434Ter) c.799G>T (p.Glu267Ter) c.352G>T (p.Glu118Ter) n.1797G>T | |
| 12 | g.40263801A= | CA2030915864 | LRRK2 | c.1556A= (p.Glu519=) c.*465A= (n.*465A=) c.1301A= (p.Glu434=) c.800A= (p.Glu267=) c.353A= (p.Glu118=) n.1798A= | |
| 12 | g.40263801A>C | CA384398716 | LRRK2 | c.1556A>C (p.Glu519Ala) c.*465A>C (n.*465A>C) c.1301A>C (p.Glu434Ala) c.800A>C (p.Glu267Ala) c.353A>C (p.Glu118Ala) n.1798A>C | gnomAD v4 |
| 12 | g.40263801A>G | CA384398717 | LRRK2 | c.1556A>G (p.Glu519Gly) c.*465A>G (n.*465A>G) c.1301A>G (p.Glu434Gly) c.800A>G (p.Glu267Gly) c.353A>G (p.Glu118Gly) n.1798A>G | dbSNP |
| 12 | g.40263801A>T | CA384398718 | LRRK2 | c.1556A>T (p.Glu519Val) c.*465A>T (n.*465A>T) c.1301A>T (p.Glu434Val) c.800A>T (p.Glu267Val) c.353A>T (p.Glu118Val) n.1798A>T | |
| 12 | g.40263802A>C | CA384398722 | LRRK2 | c.1557A>C (p.Glu519Asp) c.*466A>C (n.*466A>C) c.1302A>C (p.Glu434Asp) c.801A>C (p.Glu267Asp) c.354A>C (p.Glu118Asp) n.1799A>C | |
| 12 | g.40263802A>G | CA479236897 | LRRK2 | c.1557A>G (p.Glu519=) c.*466A>G (n.*466A>G) c.1302A>G (p.Glu434=) c.801A>G (p.Glu267=) c.354A>G (p.Glu118=) n.1799A>G | ClinVar |
| 12 | g.40263802A>T | CA384398723 | LRRK2 | c.1557A>T (p.Glu519Asp) c.*466A>T (n.*466A>T) c.1302A>T (p.Glu434Asp) c.801A>T (p.Glu267Asp) c.354A>T (p.Glu118Asp) n.1799A>T | |
| 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 | |
| 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 | |
| 12 | g.40263832G>A | CA479236911 | LRRK2 | c.1587G>A (p.Lys529=) c.*496G>A (n.*496G>A) c.1332G>A (p.Lys444=) c.831G>A (p.Lys277=) c.384G>A (p.Lys128=) n.1829G>A | |
| 12 | g.40263832G>C | CA384398891 | LRRK2 | c.1587G>C (p.Lys529Asn) c.*496G>C (n.*496G>C) c.1332G>C (p.Lys444Asn) c.831G>C (p.Lys277Asn) c.384G>C (p.Lys128Asn) n.1829G>C | gnomAD v4 |
| 12 | g.40263832G>T | CA384398893 | LRRK2 | c.1587G>T (p.Lys529Asn) c.*496G>T (n.*496G>T) c.1332G>T (p.Lys444Asn) c.831G>T (p.Lys277Asn) c.384G>T (p.Lys128Asn) n.1829G>T | gnomAD v4 |
| 12 | g.40263833C>A | CA384398897 | LRRK2 | c.1588C>A (p.Leu530Ile) c.*497C>A (n.*497C>A) c.1333C>A (p.Leu445Ile) c.832C>A (p.Leu278Ile) c.385C>A (p.Leu129Ile) n.1830C>A | |
| 12 | g.40263833C= | CA2030915943 | LRRK2 | c.1588C= (p.Leu530=) c.*497C= (n.*497C=) c.1333C= (p.Leu445=) c.832C= (p.Leu278=) c.385C= (p.Leu129=) n.1830C= | |
| 12 | g.40263833C>G | CA384398895 | LRRK2 | c.1588C>G (p.Leu530Val) c.*497C>G (n.*497C>G) c.1333C>G (p.Leu445Val) c.832C>G (p.Leu278Val) c.385C>G (p.Leu129Val) n.1830C>G | |
| 12 | g.40263833C>T | CA6513406 | LRRK2 | c.1588C>T (p.Leu530=) c.*497C>T (n.*497C>T) c.1333C>T (p.Leu445=) c.832C>T (p.Leu278=) c.385C>T (p.Leu129=) n.1830C>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 12 | g.40263834T>A | CA384398908 | LRRK2 | c.1589T>A (p.Leu530Gln) c.*498T>A (n.*498T>A) c.1334T>A (p.Leu445Gln) c.833T>A (p.Leu278Gln) c.386T>A (p.Leu129Gln) n.1831T>A | |
| 12 | g.40263834T>C | CA384398916 | LRRK2 | c.1589T>C (p.Leu530Pro) c.*498T>C (n.*498T>C) c.1334T>C (p.Leu445Pro) c.833T>C (p.Leu278Pro) c.386T>C (p.Leu129Pro) n.1831T>C | |
| 12 | g.40263834T>G | CA384398913 | LRRK2 | c.1589T>G (p.Leu530Arg) c.*498T>G (n.*498T>G) c.1334T>G (p.Leu445Arg) c.833T>G (p.Leu278Arg) c.386T>G (p.Leu129Arg) n.1831T>G | |
| 12 | g.40263835_40263840del | CA2618280666 | LRRK2 | c.1590_1595del (p.Asn531_Met532del) c.*499_*504del (n.*499_*504del) c.1335_1340del (p.Asn446_Met447del) c.834_839del (p.Asn279_Met280del) c.387_392del (p.Asn130_Met131del) n.1832_1837del | gnomAD v4 |
| 12 | g.40263835A>C | CA479236912 | LRRK2 | c.1590A>C (p.Leu530=) c.*499A>C (n.*499A>C) c.1335A>C (p.Leu445=) c.834A>C (p.Leu278=) c.387A>C (p.Leu129=) n.1832A>C | |
| 12 | g.40263835A>G | CA479236913 | LRRK2 | c.1590A>G (p.Leu530=) c.*499A>G (n.*499A>G) c.1335A>G (p.Leu445=) c.834A>G (p.Leu278=) c.387A>G (p.Leu129=) n.1832A>G | |
| 12 | g.40263835A>T | CA479236914 | LRRK2 | c.1590A>T (p.Leu530=) c.*499A>T (n.*499A>T) c.1335A>T (p.Leu445=) c.834A>T (p.Leu278=) c.387A>T (p.Leu129=) n.1832A>T | |
| 12 | g.40263836A>C | CA384398918 | LRRK2 | c.1591A>C (p.Asn531His) c.*500A>C (n.*500A>C) c.1336A>C (p.Asn446His) c.835A>C (p.Asn279His) c.388A>C (p.Asn130His) n.1833A>C | ClinVar gnomAD v4 |
| 12 | g.40263836A>G | CA384398920 | LRRK2 | c.1591A>G (p.Asn531Asp) c.*500A>G (n.*500A>G) c.1336A>G (p.Asn446Asp) c.835A>G (p.Asn279Asp) c.388A>G (p.Asn130Asp) n.1833A>G | |
| 12 | g.40263836A>T | CA384398919 | LRRK2 | c.1591A>T (p.Asn531Tyr) c.*500A>T (n.*500A>T) c.1336A>T (p.Asn446Tyr) c.835A>T (p.Asn279Tyr) c.388A>T (p.Asn130Tyr) n.1833A>T | |
| 12 | g.40263837A>C | CA384398922 | LRRK2 | c.1592A>C (p.Asn531Thr) c.*501A>C (n.*501A>C) c.1337A>C (p.Asn446Thr) c.836A>C (p.Asn279Thr) c.389A>C (p.Asn130Thr) n.1834A>C | |
| 12 | g.40263837A>G | CA384398926 | LRRK2 | c.1592A>G (p.Asn531Ser) c.*501A>G (n.*501A>G) c.1337A>G (p.Asn446Ser) c.836A>G (p.Asn279Ser) c.389A>G (p.Asn130Ser) n.1834A>G | |
| 12 | g.40263837A>T | CA384398923 | LRRK2 | c.1592A>T (p.Asn531Ile) c.*501A>T (n.*501A>T) c.1337A>T (p.Asn446Ile) c.836A>T (p.Asn279Ile) c.389A>T (p.Asn130Ile) n.1834A>T | |
| 12 | g.40263838T>A | CA384398927 | LRRK2 | c.1593T>A (p.Asn531Lys) c.*502T>A (n.*502T>A) c.1338T>A (p.Asn446Lys) c.837T>A (p.Asn279Lys) c.390T>A (p.Asn130Lys) n.1835T>A | |
| 12 | g.40263838T>C | CA479236915 | LRRK2 | c.1593T>C (p.Asn531=) c.*502T>C (n.*502T>C) c.1338T>C (p.Asn446=) c.837T>C (p.Asn279=) c.390T>C (p.Asn130=) n.1835T>C | ClinVar dbSNP |
| 12 | g.40263838T>G | CA384398931 | LRRK2 | c.1593T>G (p.Asn531Lys) c.*502T>G (n.*502T>G) c.1338T>G (p.Asn446Lys) c.837T>G (p.Asn279Lys) c.390T>G (p.Asn130Lys) n.1835T>G | |
| 12 | g.40263838T= | CA2030915951 | LRRK2 | c.1593T= (p.Asn531=) c.*502T= (n.*502T=) c.1338T= (p.Asn446=) c.837T= (p.Asn279=) c.390T= (p.Asn130=) n.1835T= | |
| 12 | g.40263839A= | CA2030915954 | LRRK2 | c.1594A= (p.Met532=) c.*503A= (n.*503A=) c.1339A= (p.Met447=) c.838A= (p.Met280=) c.391A= (p.Met131=) n.1836A= | |
| 12 | g.40263839A>C | CA384398933 | LRRK2 | c.1594A>C (p.Met532Leu) c.*503A>C (n.*503A>C) c.1339A>C (p.Met447Leu) c.838A>C (p.Met280Leu) c.391A>C (p.Met131Leu) n.1836A>C | |
| 12 | g.40263839A>G | CA384398935 | LRRK2 | c.1594A>G (p.Met532Val) c.*503A>G (n.*503A>G) c.1339A>G (p.Met447Val) c.838A>G (p.Met280Val) c.391A>G (p.Met131Val) n.1836A>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.40263839A>T | CA6513407 | LRRK2 | c.1594A>T (p.Met532Leu) c.*503A>T (n.*503A>T) c.1339A>T (p.Met447Leu) c.838A>T (p.Met280Leu) c.391A>T (p.Met131Leu) n.1836A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.40263840T>A | CA384398940 | LRRK2 | c.1595T>A (p.Met532Lys) c.*504T>A (n.*504T>A) c.1340T>A (p.Met447Lys) c.839T>A (p.Met280Lys) c.392T>A (p.Met131Lys) n.1837T>A | |
| 12 | g.40263840T>C | CA384398943 | LRRK2 | c.1595T>C (p.Met532Thr) c.*504T>C (n.*504T>C) c.1340T>C (p.Met447Thr) c.839T>C (p.Met280Thr) c.392T>C (p.Met131Thr) n.1837T>C | ClinVar gnomAD v4 |
| 12 | g.40263840T>G | CA384398944 | LRRK2 | c.1595T>G (p.Met532Arg) c.*504T>G (n.*504T>G) c.1340T>G (p.Met447Arg) c.839T>G (p.Met280Arg) c.392T>G (p.Met131Arg) n.1837T>G | |
| 12 | g.40263841G>A | CA384398945 | LRRK2 | c.1596G>A (p.Met532Ile) c.*505G>A (n.*505G>A) c.1341G>A (p.Met447Ile) c.840G>A (p.Met280Ile) c.393G>A (p.Met131Ile) n.1838G>A | |
| 12 | g.40263841G>C | CA384398947 | LRRK2 | c.1596G>C (p.Met532Ile) c.*505G>C (n.*505G>C) c.1341G>C (p.Met447Ile) c.840G>C (p.Met280Ile) c.393G>C (p.Met131Ile) n.1838G>C | |
| 12 | g.40263841G= | CA2030915956 | LRRK2 | c.1596G= (p.Met532=) c.*505G= (n.*505G=) c.1341G= (p.Met447=) c.840G= (p.Met280=) c.393G= (p.Met131=) n.1838G= | |
| 12 | g.40263841G>T | CA6513408 | LRRK2 | c.1596G>T (p.Met532Ile) c.*505G>T (n.*505G>T) c.1341G>T (p.Met447Ile) c.840G>T (p.Met280Ile) c.393G>T (p.Met131Ile) n.1838G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.40263842G>A | CA6513409 | LRRK2 | c.1597G>A (p.Val533Ile) c.*506G>A (n.*506G>A) c.1342G>A (p.Val448Ile) c.841G>A (p.Val281Ile) c.394G>A (p.Val132Ile) n.1839G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.40263842G>C | CA384398954 | LRRK2 | c.1597G>C (p.Val533Leu) c.*506G>C (n.*506G>C) c.1342G>C (p.Val448Leu) c.841G>C (p.Val281Leu) c.394G>C (p.Val132Leu) n.1839G>C | |
| 12 | g.40263842G= | CA2030915965 | LRRK2 | c.1597G= (p.Val533=) c.*506G= (n.*506G=) c.1342G= (p.Val448=) c.841G= (p.Val281=) c.394G= (p.Val132=) n.1839G= | |
| 12 | g.40263842G>T | CA384398960 | LRRK2 | c.1597G>T (p.Val533Phe) c.*506G>T (n.*506G>T) c.1342G>T (p.Val448Phe) c.841G>T (p.Val281Phe) c.394G>T (p.Val132Phe) n.1839G>T | COSMIC COSMIC |
| 12 | g.40263843T>A | CA384398967 | LRRK2 | c.1598T>A (p.Val533Asp) c.*507T>A (n.*507T>A) c.1343T>A (p.Val448Asp) c.842T>A (p.Val281Asp) c.395T>A (p.Val132Asp) n.1840T>A | ClinVar |
| 12 | g.40263843T>C | CA6513410 | LRRK2 | c.1598T>C (p.Val533Ala) c.*507T>C (n.*507T>C) c.1343T>C (p.Val448Ala) c.842T>C (p.Val281Ala) c.395T>C (p.Val132Ala) n.1840T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.40263843T>G | CA384398965 | LRRK2 | c.1598T>G (p.Val533Gly) c.*507T>G (n.*507T>G) c.1343T>G (p.Val448Gly) c.842T>G (p.Val281Gly) c.395T>G (p.Val132Gly) n.1840T>G | |
| 12 | g.40263843T= | CA2030915968 | LRRK2 | c.1598T= (p.Val533=) c.*507T= (n.*507T=) c.1343T= (p.Val448=) c.842T= (p.Val281=) c.395T= (p.Val132=) n.1840T= | |
| 12 | g.40263844T>A | CA479236916 | LRRK2 | c.1599T>A (p.Val533=) c.*508T>A (n.*508T>A) c.1344T>A (p.Val448=) c.843T>A (p.Val281=) c.396T>A (p.Val132=) n.1841T>A | |
| 12 | g.40263844T>C | CA479236917 | LRRK2 | c.1599T>C (p.Val533=) c.*508T>C (n.*508T>C) c.1344T>C (p.Val448=) c.843T>C (p.Val281=) c.396T>C (p.Val132=) n.1841T>C | |
| 12 | g.40263844T>G | CA479236918 | LRRK2 | c.1599T>G (p.Val533=) c.*508T>G (n.*508T>G) c.1344T>G (p.Val448=) c.843T>G (p.Val281=) c.396T>G (p.Val132=) n.1841T>G | gnomAD v4 |
| 12 | g.40263845A>C | CA384398968 | LRRK2 | c.1600A>C (p.Lys534Gln) c.*509A>C (n.*509A>C) c.1345A>C (p.Lys449Gln) c.844A>C (p.Lys282Gln) c.397A>C (p.Lys133Gln) n.1842A>C | |
| 12 | g.40263845A>G | CA384398969 | LRRK2 | c.1600A>G (p.Lys534Glu) c.*509A>G (n.*509A>G) c.1345A>G (p.Lys449Glu) c.844A>G (p.Lys282Glu) c.397A>G (p.Lys133Glu) n.1842A>G | |
| 12 | g.40263845A>T | CA384398970 | LRRK2 | c.1600A>T (p.Lys534Ter) c.*509A>T (n.*509A>T) c.1345A>T (p.Lys449Ter) c.844A>T (p.Lys282Ter) c.397A>T (p.Lys133Ter) n.1842A>T | |
| 12 | g.40263850del | CA479236919 | LRRK2 | c.1605del (p.Lys535AsnfsTer13) c.*514del (n.*514del) c.1350del (p.Lys450AsnfsTer13) c.849del (p.Lys283AsnfsTer13) c.402del (p.Lys134AsnfsTer13) n.1847del | COSMIC COSMIC |
| 12 | g.40263846A>C | CA384398971 | LRRK2 | c.1601A>C (p.Lys534Thr) c.*510A>C (n.*510A>C) c.1346A>C (p.Lys449Thr) c.845A>C (p.Lys282Thr) c.398A>C (p.Lys133Thr) n.1843A>C | COSMIC COSMIC |
| 12 | g.40263846A>G | CA384398973 | LRRK2 | c.1601A>G (p.Lys534Arg) c.*510A>G (n.*510A>G) c.1346A>G (p.Lys449Arg) c.845A>G (p.Lys282Arg) c.398A>G (p.Lys133Arg) n.1843A>G | |
| 12 | g.40263846A>T | CA384398976 | LRRK2 | c.1601A>T (p.Lys534Ile) c.*510A>T (n.*510A>T) c.1346A>T (p.Lys449Ile) c.845A>T (p.Lys282Ile) c.398A>T (p.Lys133Ile) n.1843A>T | |
| 12 | g.40263847A>C | CA384398979 | LRRK2 | c.1602A>C (p.Lys534Asn) c.*511A>C (n.*511A>C) c.1347A>C (p.Lys449Asn) c.846A>C (p.Lys282Asn) c.399A>C (p.Lys133Asn) n.1844A>C | |
| 12 | g.40263847A>G | CA479236920 | LRRK2 | c.1602A>G (p.Lys534=) c.*511A>G (n.*511A>G) c.1347A>G (p.Lys449=) c.846A>G (p.Lys282=) c.399A>G (p.Lys133=) n.1844A>G | gnomAD v4 |
| 12 | g.40263847A>T | CA384398982 | LRRK2 | c.1602A>T (p.Lys534Asn) c.*511A>T (n.*511A>T) c.1347A>T (p.Lys449Asn) c.846A>T (p.Lys282Asn) c.399A>T (p.Lys133Asn) n.1844A>T | |
| 12 | g.40263848A= | CA2030915973 | LRRK2 | c.1603A= (p.Lys535=) c.*512A= (n.*512A=) c.1348A= (p.Lys450=) c.847A= (p.Lys283=) c.400A= (p.Lys134=) n.1845A= | |
| 12 | g.40263848A>C | CA384398984 | LRRK2 | c.1603A>C (p.Lys535Gln) c.*512A>C (n.*512A>C) c.1348A>C (p.Lys450Gln) c.847A>C (p.Lys283Gln) c.400A>C (p.Lys134Gln) n.1845A>C | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.40263848A>G | CA384398986 | LRRK2 | c.1603A>G (p.Lys535Glu) c.*512A>G (n.*512A>G) c.1348A>G (p.Lys450Glu) c.847A>G (p.Lys283Glu) c.400A>G (p.Lys134Glu) n.1845A>G | |
| 12 | g.40263848A>T | CA384398987 | LRRK2 | c.1603A>T (p.Lys535Ter) c.*512A>T (n.*512A>T) c.1348A>T (p.Lys450Ter) c.847A>T (p.Lys283Ter) c.400A>T (p.Lys134Ter) n.1845A>T | |
| 12 | g.40263849A>C | CA384398990 | LRRK2 | c.1604A>C (p.Lys535Thr) c.*513A>C (n.*513A>C) c.1349A>C (p.Lys450Thr) c.848A>C (p.Lys283Thr) c.401A>C (p.Lys134Thr) n.1846A>C | |
| 12 | g.40263849A>G | CA384398989 | LRRK2 | c.1604A>G (p.Lys535Arg) c.*513A>G (n.*513A>G) c.1349A>G (p.Lys450Arg) c.848A>G (p.Lys283Arg) c.401A>G (p.Lys134Arg) n.1846A>G | |
| 12 | g.40263849A>T | CA384398988 | LRRK2 | c.1604A>T (p.Lys535Ile) c.*513A>T (n.*513A>T) c.1349A>T (p.Lys450Ile) c.848A>T (p.Lys283Ile) c.401A>T (p.Lys134Ile) n.1846A>T | COSMIC COSMIC |
| 12 | g.40263850A= | CA2030915980 | LRRK2 | c.1605A= (p.Lys535=) c.*514A= (n.*514A=) c.1350A= (p.Lys450=) c.849A= (p.Lys283=) c.402A= (p.Lys134=) n.1847A= | |
| 12 | g.40263850A>C | CA384398991 | LRRK2 | c.1605A>C (p.Lys535Asn) c.*514A>C (n.*514A>C) c.1350A>C (p.Lys450Asn) c.849A>C (p.Lys283Asn) c.402A>C (p.Lys134Asn) n.1847A>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.40263850A>G | CA479236921 | LRRK2 | c.1605A>G (p.Lys535=) c.*514A>G (n.*514A>G) c.1350A>G (p.Lys450=) c.849A>G (p.Lys283=) c.402A>G (p.Lys134=) n.1847A>G | ClinVar dbSNP |
| 12 | g.40263850A>T | CA384398994 | LRRK2 | c.1605A>T (p.Lys535Asn) c.*514A>T (n.*514A>T) c.1350A>T (p.Lys450Asn) c.849A>T (p.Lys283Asn) c.402A>T (p.Lys134Asn) n.1847A>T | |
| 12 | g.40263851C>A | CA6513411 | LRRK2 | c.1606C>A (p.Gln536Lys) c.*515C>A (n.*515C>A) c.1351C>A (p.Gln451Lys) c.850C>A (p.Gln284Lys) c.403C>A (p.Gln135Lys) n.1848C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40263851C= | CA2030916000 | LRRK2 | c.1606C= (p.Gln536=) c.*515C= (n.*515C=) c.1351C= (p.Gln451=) c.850C= (p.Gln284=) c.403C= (p.Gln135=) n.1848C= | |
| 12 | g.40263851C>G | CA384398998 | LRRK2 | c.1606C>G (p.Gln536Glu) c.*515C>G (n.*515C>G) c.1351C>G (p.Gln451Glu) c.850C>G (p.Gln284Glu) c.403C>G (p.Gln135Glu) n.1848C>G | |
| 12 | g.40263851C>T | CA384399001 | LRRK2 | c.1606C>T (p.Gln536Ter) c.*515C>T (n.*515C>T) c.1351C>T (p.Gln451Ter) c.850C>T (p.Gln284Ter) c.403C>T (p.Gln135Ter) n.1848C>T | |
| 12 | g.40263852A= | CA2030916006 | LRRK2 | c.1607A= (p.Gln536=) c.*516A= (n.*516A=) c.1352A= (p.Gln451=) c.851A= (p.Gln284=) c.404A= (p.Gln135=) n.1849A= | |
| 12 | g.40263852A>C | CA384399003 | LRRK2 | c.1607A>C (p.Gln536Pro) c.*516A>C (n.*516A>C) c.1352A>C (p.Gln451Pro) c.851A>C (p.Gln284Pro) c.404A>C (p.Gln135Pro) n.1849A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40263852A>G | CA384399006 | LRRK2 | c.1607A>G (p.Gln536Arg) c.*516A>G (n.*516A>G) c.1352A>G (p.Gln451Arg) c.851A>G (p.Gln284Arg) c.404A>G (p.Gln135Arg) n.1849A>G | |
| 12 | g.40263852A>T | CA384399014 | LRRK2 | c.1607A>T (p.Gln536Leu) c.*516A>T (n.*516A>T) c.1352A>T (p.Gln451Leu) c.851A>T (p.Gln284Leu) c.404A>T (p.Gln135Leu) n.1849A>T | ClinVar |
| 12 | g.40263853G>A | CA479236922 | LRRK2 | c.1608G>A (p.Gln536=) c.*517G>A (n.*517G>A) c.1353G>A (p.Gln451=) c.852G>A (p.Gln284=) c.405G>A (p.Gln135=) n.1850G>A | |
| 12 | g.40263853G>C | CA384399017 | LRRK2 | c.1608G>C (p.Gln536His) c.*517G>C (n.*517G>C) c.1353G>C (p.Gln451His) c.852G>C (p.Gln284His) c.405G>C (p.Gln135His) n.1850G>C | gnomAD v4 |
| 12 | g.40263853G= | CA2030916015 | LRRK2 | c.1608G= (p.Gln536=) c.*517G= (n.*517G=) c.1353G= (p.Gln451=) c.852G= (p.Gln284=) c.405G= (p.Gln135=) n.1850G= | |
| 12 | g.40263853G>T | CA384399018 | LRRK2 | c.1608G>T (p.Gln536His) c.*517G>T (n.*517G>T) c.1353G>T (p.Gln451His) c.852G>T (p.Gln284His) c.405G>T (p.Gln135His) n.1850G>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.40263854T>A | CA384399021 | LRRK2 | c.1609T>A (p.Cys537Ser) c.*518T>A (n.*518T>A) c.1354T>A (p.Cys452Ser) c.853T>A (p.Cys285Ser) c.406T>A (p.Cys136Ser) n.1851T>A | |
| 12 | g.40263854T>C | CA384399022 | LRRK2 | c.1609T>C (p.Cys537Arg) c.*518T>C (n.*518T>C) c.1354T>C (p.Cys452Arg) c.853T>C (p.Cys285Arg) c.406T>C (p.Cys136Arg) n.1851T>C | |
| 12 | g.40263854T>G | CA384399023 | LRRK2 | c.1609T>G (p.Cys537Gly) c.*518T>G (n.*518T>G) c.1354T>G (p.Cys452Gly) c.853T>G (p.Cys285Gly) c.406T>G (p.Cys136Gly) n.1851T>G | |
| 12 | g.40263855G>A | CA384399025 | LRRK2 | c.1610G>A (p.Cys537Tyr) c.*519G>A (n.*519G>A) c.1355G>A (p.Cys452Tyr) c.854G>A (p.Cys285Tyr) c.407G>A (p.Cys136Tyr) n.1852G>A | COSMIC |
| 12 | g.40263855G>C | CA384399029 | LRRK2 | c.1610G>C (p.Cys537Ser) c.*519G>C (n.*519G>C) c.1355G>C (p.Cys452Ser) c.854G>C (p.Cys285Ser) c.407G>C (p.Cys136Ser) n.1852G>C | |
| 12 | g.40263855G>T | CA384399027 | LRRK2 | c.1610G>T (p.Cys537Phe) c.*519G>T (n.*519G>T) c.1355G>T (p.Cys452Phe) c.854G>T (p.Cys285Phe) c.407G>T (p.Cys136Phe) n.1852G>T | COSMIC COSMIC |
| 12 | g.40263856T>A | CA384399031 | LRRK2 | c.1611T>A (p.Cys537Ter) c.*520T>A (n.*520T>A) c.1356T>A (p.Cys452Ter) c.855T>A (p.Cys285Ter) c.408T>A (p.Cys136Ter) n.1853T>A | |
| 12 | g.40263856T>C | CA479236923 | LRRK2 | c.1611T>C (p.Cys537=) c.*520T>C (n.*520T>C) c.1356T>C (p.Cys452=) c.855T>C (p.Cys285=) c.408T>C (p.Cys136=) n.1853T>C | |
| 12 | g.40263856T>G | CA384399033 | LRRK2 | c.1611T>G (p.Cys537Trp) c.*520T>G (n.*520T>G) c.1356T>G (p.Cys452Trp) c.855T>G (p.Cys285Trp) c.408T>G (p.Cys136Trp) n.1853T>G | |
| 12 | g.40263857T>A | CA384399035 | LRRK2 | c.1612T>A (p.Phe538Ile) c.*521T>A (n.*521T>A) c.1357T>A (p.Phe453Ile) c.856T>A (p.Phe286Ile) c.409T>A (p.Phe137Ile) n.1854T>A | |
| 12 | g.40263857T>C | CA384399037 | LRRK2 | c.1612T>C (p.Phe538Leu) c.*521T>C (n.*521T>C) c.1357T>C (p.Phe453Leu) c.856T>C (p.Phe286Leu) c.409T>C (p.Phe137Leu) n.1854T>C | |
| 12 | g.40263857T>G | CA384399039 | LRRK2 | c.1612T>G (p.Phe538Val) c.*521T>G (n.*521T>G) c.1357T>G (p.Phe453Val) c.856T>G (p.Phe286Val) c.409T>G (p.Phe137Val) n.1854T>G | |
| 12 | g.40263858T>A | CA384399041 | LRRK2 | c.1613T>A (p.Phe538Tyr) c.*522T>A (n.*522T>A) c.1358T>A (p.Phe453Tyr) c.857T>A (p.Phe286Tyr) c.410T>A (p.Phe137Tyr) n.1855T>A | |
| 12 | g.40263858T>C | CA384399043 | LRRK2 | c.1613T>C (p.Phe538Ser) c.*522T>C (n.*522T>C) c.1358T>C (p.Phe453Ser) c.857T>C (p.Phe286Ser) c.410T>C (p.Phe137Ser) n.1855T>C | |
| 12 | g.40263858T>G | CA384399045 | LRRK2 | c.1613T>G (p.Phe538Cys) c.*522T>G (n.*522T>G) c.1358T>G (p.Phe453Cys) c.857T>G (p.Phe286Cys) c.410T>G (p.Phe137Cys) n.1855T>G | |
| 12 | g.40263859C>A | CA384399047 | LRRK2 | c.1614C>A (p.Phe538Leu) c.*523C>A (n.*523C>A) c.1359C>A (p.Phe453Leu) c.858C>A (p.Phe286Leu) c.411C>A (p.Phe137Leu) n.1856C>A | gnomAD v4 |
| 12 | g.40263859C>G | CA384399049 | LRRK2 | c.1614C>G (p.Phe538Leu) c.*523C>G (n.*523C>G) c.1359C>G (p.Phe453Leu) c.858C>G (p.Phe286Leu) c.411C>G (p.Phe137Leu) n.1856C>G | |
| 12 | g.40263859C>T | CA479236924 | LRRK2 | c.1614C>T (p.Phe538=) c.*523C>T (n.*523C>T) c.1359C>T (p.Phe453=) c.858C>T (p.Phe286=) c.411C>T (p.Phe137=) n.1856C>T | |
| 12 | g.40263860A= | CA2030916022 | LRRK2 | c.1615A= (p.Lys539=) c.*524A= (n.*524A=) c.1360A= (p.Lys454=) c.859A= (p.Lys287=) c.412A= (p.Lys138=) n.1857A= | |
| 12 | g.40263860A>C | CA235319342 | LRRK2 | c.1615A>C (p.Lys539Gln) c.*524A>C (n.*524A>C) c.1360A>C (p.Lys454Gln) c.859A>C (p.Lys287Gln) c.412A>C (p.Lys138Gln) n.1857A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40263860A>G | CA384399053 | LRRK2 | c.1615A>G (p.Lys539Glu) c.*524A>G (n.*524A>G) c.1360A>G (p.Lys454Glu) c.859A>G (p.Lys287Glu) c.412A>G (p.Lys138Glu) n.1857A>G | |
| 12 | g.40263860A>T | CA384399051 | LRRK2 | c.1615A>T (p.Lys539Ter) c.*524A>T (n.*524A>T) c.1360A>T (p.Lys454Ter) c.859A>T (p.Lys287Ter) c.412A>T (p.Lys138Ter) n.1857A>T | |
| 12 | g.40263861A= | CA2030916033 | LRRK2 | c.1616A= (p.Lys539=) c.*525A= (n.*525A=) c.1361A= (p.Lys454=) c.860A= (p.Lys287=) c.413A= (p.Lys138=) n.1858A= | |
| 12 | g.40263861A>C | CA384399057 | LRRK2 | c.1616A>C (p.Lys539Thr) c.*525A>C (n.*525A>C) c.1361A>C (p.Lys454Thr) c.860A>C (p.Lys287Thr) c.413A>C (p.Lys138Thr) n.1858A>C | |
| 12 | g.40263861A>G | CA6513412 | LRRK2 | c.1616A>G (p.Lys539Arg) c.*525A>G (n.*525A>G) c.1361A>G (p.Lys454Arg) c.860A>G (p.Lys287Arg) c.413A>G (p.Lys138Arg) n.1858A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40263861A>T | CA384399061 | LRRK2 | c.1616A>T (p.Lys539Met) c.*525A>T (n.*525A>T) c.1361A>T (p.Lys454Met) c.860A>T (p.Lys287Met) c.413A>T (p.Lys138Met) n.1858A>T | |
| 12 | g.40263862G>A | CA479236925 | LRRK2 | c.1617G>A (p.Lys539=) c.*526G>A (n.*526G>A) c.1362G>A (p.Lys454=) c.861G>A (p.Lys287=) c.414G>A (p.Lys138=) n.1859G>A | COSMIC COSMIC |
| 12 | g.40263862G>C | CA384399066 | LRRK2 | c.1617G>C (p.Lys539Asn) c.*526G>C (n.*526G>C) c.1362G>C (p.Lys454Asn) c.861G>C (p.Lys287Asn) c.414G>C (p.Lys138Asn) n.1859G>C | |
| 12 | g.40263862G>T | CA384399067 | LRRK2 | c.1617G>T (p.Lys539Asn) c.*526G>T (n.*526G>T) c.1362G>T (p.Lys454Asn) c.861G>T (p.Lys287Asn) c.414G>T (p.Lys138Asn) n.1859G>T | ClinVar |
| 12 | g.40263863A= | CA2030916040 | LRRK2 | c.1618A= (p.Asn540=) c.*527A= (n.*527A=) c.1363A= (p.Asn455=) c.862A= (p.Asn288=) c.415A= (p.Asn139=) n.1860A= | |
| 12 | g.40263863A>C | CA384399070 | LRRK2 | c.1618A>C (p.Asn540His) c.*527A>C (n.*527A>C) c.1363A>C (p.Asn455His) c.862A>C (p.Asn288His) c.415A>C (p.Asn139His) n.1860A>C | |
| 12 | g.40263863A>G | CA384399069 | LRRK2 | c.1618A>G (p.Asn540Asp) c.*527A>G (n.*527A>G) c.1363A>G (p.Asn455Asp) c.862A>G (p.Asn288Asp) c.415A>G (p.Asn139Asp) n.1860A>G | dbSNP |
| 12 | g.40263863A>T | CA384399068 | LRRK2 | c.1618A>T (p.Asn540Tyr) c.*527A>T (n.*527A>T) c.1363A>T (p.Asn455Tyr) c.862A>T (p.Asn288Tyr) c.415A>T (p.Asn139Tyr) n.1860A>T | |
| 12 | g.40263863_40263866delinsAATG | CA2030916038 | LRRK2 | c.1618_1621delinsAATG (p.Asn540=) c.*527_*530delinsAATG (n.*527_*530delinsAATG) c.1363_1366delinsAATG (p.Asn455=) c.862_865delinsAATG (p.Asn288=) c.415_418delinsAATG (p.Asn139=) n.1860_1863delinsAATG | |
| 12 | g.40263864A>C | CA384399071 | LRRK2 | c.1619A>C (p.Asn540Thr) c.*528A>C (n.*528A>C) c.1364A>C (p.Asn455Thr) c.863A>C (p.Asn288Thr) c.416A>C (p.Asn139Thr) n.1861A>C | |
| 12 | g.40263864A>G | CA384399075 | LRRK2 | c.1619A>G (p.Asn540Ser) c.*528A>G (n.*528A>G) c.1364A>G (p.Asn455Ser) c.863A>G (p.Asn288Ser) c.416A>G (p.Asn139Ser) n.1861A>G | |
| 12 | g.40263864A>T | CA384399081 | LRRK2 | c.1619A>T (p.Asn540Ile) c.*528A>T (n.*528A>T) c.1364A>T (p.Asn455Ile) c.863A>T (p.Asn288Ile) c.416A>T (p.Asn139Ile) n.1861A>T | |
| 12 | g.40263866_40263868del | CA604500130 | LRRK2 | c.1621_1623del (p.Asp541del) c.*530_*532del (n.*530_*532del) c.1366_1368del (p.Asp456del) c.865_867del (p.Asp289del) c.418_420del (p.Asp140del) n.1863_1865del | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.40263865T>A | CA384399083 | LRRK2 | c.1620T>A (p.Asn540Lys) c.*529T>A (n.*529T>A) c.1365T>A (p.Asn455Lys) c.864T>A (p.Asn288Lys) c.417T>A (p.Asn139Lys) n.1862T>A | |
| 12 | g.40263865T>C | CA6513413 | LRRK2 | c.1620T>C (p.Asn540=) c.*529T>C (n.*529T>C) c.1365T>C (p.Asn455=) c.864T>C (p.Asn288=) c.417T>C (p.Asn139=) n.1862T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40263865T>G | CA384399086 | LRRK2 | c.1620T>G (p.Asn540Lys) c.*529T>G (n.*529T>G) c.1365T>G (p.Asn455Lys) c.864T>G (p.Asn288Lys) c.417T>G (p.Asn139Lys) n.1862T>G | |
| 12 | g.40263865T= | CA2030916054 | LRRK2 | c.1620T= (p.Asn540=) c.*529T= (n.*529T=) c.1365T= (p.Asn455=) c.864T= (p.Asn288=) c.417T= (p.Asn139=) n.1862T= | |
| 12 | g.40263866G>A | CA6513414 | LRRK2 | c.1621G>A (p.Asp541Asn) c.*530G>A (n.*530G>A) c.1366G>A (p.Asp456Asn) c.865G>A (p.Asp289Asn) c.418G>A (p.Asp140Asn) n.1863G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40263866G>C | CA384399087 | LRRK2 | c.1621G>C (p.Asp541His) c.*530G>C (n.*530G>C) c.1366G>C (p.Asp456His) c.865G>C (p.Asp289His) c.418G>C (p.Asp140His) n.1863G>C | |
| 12 | g.40263866G= | CA2030916061 | LRRK2 | c.1621G= (p.Asp541=) c.*530G= (n.*530G=) c.1366G= (p.Asp456=) c.865G= (p.Asp289=) c.418G= (p.Asp140=) n.1863G= | |
| 12 | g.40263866G>T | CA384399089 | LRRK2 | c.1621G>T (p.Asp541Tyr) c.*530G>T (n.*530G>T) c.1366G>T (p.Asp456Tyr) c.865G>T (p.Asp289Tyr) c.418G>T (p.Asp140Tyr) n.1863G>T | |
| 12 | g.40263867A>C | CA384399099 | LRRK2 | c.1622A>C (p.Asp541Ala) c.*531A>C (n.*531A>C) c.1367A>C (p.Asp456Ala) c.866A>C (p.Asp289Ala) c.419A>C (p.Asp140Ala) n.1864A>C | |
| 12 | g.40263867A>G | CA384399101 | LRRK2 | c.1622A>G (p.Asp541Gly) c.*531A>G (n.*531A>G) c.1367A>G (p.Asp456Gly) c.866A>G (p.Asp289Gly) c.419A>G (p.Asp140Gly) n.1864A>G | |
| 12 | g.40263867A>T | CA384399104 | LRRK2 | c.1622A>T (p.Asp541Val) c.*531A>T (n.*531A>T) c.1367A>T (p.Asp456Val) c.866A>T (p.Asp289Val) c.419A>T (p.Asp140Val) n.1864A>T | |
| 12 | g.40263868T>A | CA384399109 | LRRK2 | c.1623T>A (p.Asp541Glu) c.*532T>A (n.*532T>A) c.1368T>A (p.Asp456Glu) c.867T>A (p.Asp289Glu) c.420T>A (p.Asp140Glu) n.1865T>A | |
| 12 | g.40263868T>C | CA479236926 | LRRK2 | c.1623T>C (p.Asp541=) c.*532T>C (n.*532T>C) c.1368T>C (p.Asp456=) c.867T>C (p.Asp289=) c.420T>C (p.Asp140=) n.1865T>C | |
| 12 | g.40263868T>G | CA384399111 | LRRK2 | c.1623T>G (p.Asp541Glu) c.*532T>G (n.*532T>G) c.1368T>G (p.Asp456Glu) c.867T>G (p.Asp289Glu) c.420T>G (p.Asp140Glu) n.1865T>G | gnomAD v4 |
| 12 | g.40263869A>C | CA384399114 | LRRK2 | c.1624A>C (p.Ile542Leu) c.*533A>C (n.*533A>C) c.1369A>C (p.Ile457Leu) c.868A>C (p.Ile290Leu) c.421A>C (p.Ile141Leu) n.1866A>C | |
| 12 | g.40263869A>G | CA384399117 | LRRK2 | c.1624A>G (p.Ile542Val) c.*533A>G (n.*533A>G) c.1369A>G (p.Ile457Val) c.868A>G (p.Ile290Val) c.421A>G (p.Ile141Val) n.1866A>G | |
| 12 | g.40263869A>T | CA384399121 | LRRK2 | c.1624A>T (p.Ile542Phe) c.*533A>T (n.*533A>T) c.1369A>T (p.Ile457Phe) c.868A>T (p.Ile290Phe) c.421A>T (p.Ile141Phe) n.1866A>T | |
| 12 | g.40263870T>A | CA384399123 | LRRK2 | c.1625T>A (p.Ile542Asn) c.*534T>A (n.*534T>A) c.1370T>A (p.Ile457Asn) c.869T>A (p.Ile290Asn) c.422T>A (p.Ile141Asn) n.1867T>A | |
| 12 | g.40263870T>C | CA384399126 | LRRK2 | c.1625T>C (p.Ile542Thr) c.*534T>C (n.*534T>C) c.1370T>C (p.Ile457Thr) c.869T>C (p.Ile290Thr) c.422T>C (p.Ile141Thr) n.1867T>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.40263870T>G | CA384399135 | LRRK2 | c.1625T>G (p.Ile542Ser) c.*534T>G (n.*534T>G) c.1370T>G (p.Ile457Ser) c.869T>G (p.Ile290Ser) c.422T>G (p.Ile141Ser) n.1867T>G | ClinVar gnomAD v4 |
| 12 | g.40263870T= | CA2030916062 | LRRK2 | c.1625T= (p.Ile542=) c.*534T= (n.*534T=) c.1370T= (p.Ile457=) c.869T= (p.Ile290=) c.422T= (p.Ile141=) n.1867T= | |
| 12 | g.40263871T>A | CA479236927 | LRRK2 | c.1626T>A (p.Ile542=) c.*535T>A (n.*535T>A) c.1371T>A (p.Ile457=) c.870T>A (p.Ile290=) c.423T>A (p.Ile141=) n.1868T>A | |
| 12 | g.40263871T>C | CA479236928 | LRRK2 | c.1626T>C (p.Ile542=) c.*535T>C (n.*535T>C) c.1371T>C (p.Ile457=) c.870T>C (p.Ile290=) c.423T>C (p.Ile141=) n.1868T>C | |
| 12 | g.40263871T>G | CA384399137 | LRRK2 | c.1626T>G (p.Ile542Met) c.*535T>G (n.*535T>G) c.1371T>G (p.Ile457Met) c.870T>G (p.Ile290Met) c.423T>G (p.Ile141Met) n.1868T>G | |
| 12 | g.40263872C>A | CA384399139 | LRRK2 | c.1627C>A (p.His543Asn) c.*536C>A (n.*536C>A) c.1372C>A (p.His458Asn) c.871C>A (p.His291Asn) c.424C>A (p.His142Asn) n.1869C>A | |
| 12 | g.40263872C>G | CA384399148 | LRRK2 | c.1627C>G (p.His543Asp) c.*536C>G (n.*536C>G) c.1372C>G (p.His458Asp) c.871C>G (p.His291Asp) c.424C>G (p.His142Asp) n.1869C>G | |
| 12 | g.40263872C>T | CA384399146 | LRRK2 | c.1627C>T (p.His543Tyr) c.*536C>T (n.*536C>T) c.1372C>T (p.His458Tyr) c.871C>T (p.His291Tyr) c.424C>T (p.His142Tyr) n.1869C>T | |
| 12 | g.40263873A>C | CA384399151 | LRRK2 | c.1628A>C (p.His543Pro) c.*537A>C (n.*537A>C) c.1373A>C (p.His458Pro) c.872A>C (p.His291Pro) c.425A>C (p.His142Pro) n.1870A>C | |
| 12 | g.40263873A>G | CA384399152 | LRRK2 | c.1628A>G (p.His543Arg) c.*537A>G (n.*537A>G) c.1373A>G (p.His458Arg) c.872A>G (p.His291Arg) c.425A>G (p.His142Arg) n.1870A>G | ClinVar gnomAD v4 |
| 12 | g.40263873A>T | CA384399153 | LRRK2 | c.1628A>T (p.His543Leu) c.*537A>T (n.*537A>T) c.1373A>T (p.His458Leu) c.872A>T (p.His291Leu) c.425A>T (p.His142Leu) n.1870A>T | |
| 12 | g.40263874C>A | CA384399155 | LRRK2 | c.1629C>A (p.His543Gln) c.*538C>A (n.*538C>A) c.1374C>A (p.His458Gln) c.873C>A (p.His291Gln) c.426C>A (p.His142Gln) n.1871C>A | ClinVar |
| 12 | g.40263874C>G | CA384399157 | LRRK2 | c.1629C>G (p.His543Gln) c.*538C>G (n.*538C>G) c.1374C>G (p.His458Gln) c.873C>G (p.His291Gln) c.426C>G (p.His142Gln) n.1871C>G | |
| 12 | g.40263874C>T | CA479236929 | LRRK2 | c.1629C>T (p.His543=) c.*538C>T (n.*538C>T) c.1374C>T (p.His458=) c.873C>T (p.His291=) c.426C>T (p.His142=) n.1871C>T | |
| 12 | g.40263875A= | CA2030916067 | LRRK2 | c.1630A= (p.Lys544=) c.*539A= (n.*539A=) c.1375A= (p.Lys459=) c.874A= (p.Lys292=) c.427A= (p.Lys143=) n.1872A= | |
| 12 | g.40263875A>C | CA384399162 | LRRK2 | c.1630A>C (p.Lys544Gln) c.*539A>C (n.*539A>C) c.1375A>C (p.Lys459Gln) c.874A>C (p.Lys292Gln) c.427A>C (p.Lys143Gln) n.1872A>C | gnomAD v4 |
| 12 | g.40263875A>G | CA343487 | LRRK2 | c.1630A>G (p.Lys544Glu) c.*539A>G (n.*539A>G) c.1375A>G (p.Lys459Glu) c.874A>G (p.Lys292Glu) c.427A>G (p.Lys143Glu) n.1872A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40263875A>T | CA384399166 | LRRK2 | c.1630A>T (p.Lys544Ter) c.*539A>T (n.*539A>T) c.1375A>T (p.Lys459Ter) c.874A>T (p.Lys292Ter) c.427A>T (p.Lys143Ter) n.1872A>T | |
| 12 | g.40263876A>C | CA384399169 | LRRK2 | c.1631A>C (p.Lys544Thr) c.*540A>C (n.*540A>C) c.1376A>C (p.Lys459Thr) c.875A>C (p.Lys292Thr) c.428A>C (p.Lys143Thr) n.1873A>C | |
| 12 | g.40263876A>G | CA384399171 | LRRK2 | c.1631A>G (p.Lys544Arg) c.*540A>G (n.*540A>G) c.1376A>G (p.Lys459Arg) c.875A>G (p.Lys292Arg) c.428A>G (p.Lys143Arg) n.1873A>G | ClinVar gnomAD v4 |
| 12 | g.40263876A>T | CA384399175 | LRRK2 | c.1631A>T (p.Lys544Ile) c.*540A>T (n.*540A>T) c.1376A>T (p.Lys459Ile) c.875A>T (p.Lys292Ile) c.428A>T (p.Lys143Ile) n.1873A>T | |
| 12 | g.40263876_40263877insTATATGTGTTGT | CA2548893291 | LRRK2 | c.1631_1632insTATATGTGTTGT (p.Lys544delinsAsnIleCysValVal) c.*540_*541insTATATGTGTTGT (n.*540_*541insTATATGTGTTGT) c.1376_1377insTATATGTGTTGT (p.Lys459delinsAsnIleCysValVal) c.875_876insTATATGTGTTGT (p.Lys292delinsAsnIleCysValVal) c.428_429insTATATGTGTTGT (p.Lys143delinsAsnIleCysValVal) n.1873_1874insTATATGTGTTGT | |
| 12 | g.40263877A>C | CA384399177 | LRRK2 | c.1632A>C (p.Lys544Asn) c.*541A>C (n.*541A>C) c.1377A>C (p.Lys459Asn) c.876A>C (p.Lys292Asn) c.429A>C (p.Lys143Asn) n.1874A>C | |
| 12 | g.40263877A>G | CA479236930 | LRRK2 | c.1632A>G (p.Lys544=) c.*541A>G (n.*541A>G) c.1377A>G (p.Lys459=) c.876A>G (p.Lys292=) c.429A>G (p.Lys143=) n.1874A>G | ClinVar |
| 12 | g.40263877A>T | CA384399180 | LRRK2 | c.1632A>T (p.Lys544Asn) c.*541A>T (n.*541A>T) c.1377A>T (p.Lys459Asn) c.876A>T (p.Lys292Asn) c.429A>T (p.Lys143Asn) n.1874A>T | |
| 12 | g.40263878C>A | CA384399183 | LRRK2 | c.1633C>A (p.Leu545Met) c.*542C>A (n.*542C>A) c.1378C>A (p.Leu460Met) c.877C>A (p.Leu293Met) c.430C>A (p.Leu144Met) n.1875C>A | |
| 12 | g.40263878C>G | CA384399185 | LRRK2 | c.1633C>G (p.Leu545Val) c.*542C>G (n.*542C>G) c.1378C>G (p.Leu460Val) c.877C>G (p.Leu293Val) c.430C>G (p.Leu144Val) n.1875C>G | |
| 12 | g.40263878C>T | CA479236931 | LRRK2 | c.1633C>T (p.Leu545=) c.*542C>T (n.*542C>T) c.1378C>T (p.Leu460=) c.877C>T (p.Leu293=) c.430C>T (p.Leu144=) n.1875C>T | |
| 12 | g.40263879T>A | CA384399187 | LRRK2 | c.1634T>A (p.Leu545Gln) c.*543T>A (n.*543T>A) c.1379T>A (p.Leu460Gln) c.878T>A (p.Leu293Gln) c.431T>A (p.Leu144Gln) n.1876T>A | |
| 12 | g.40263879T>C | CA384399188 | LRRK2 | c.1634T>C (p.Leu545Pro) c.*543T>C (n.*543T>C) c.1379T>C (p.Leu460Pro) c.878T>C (p.Leu293Pro) c.431T>C (p.Leu144Pro) n.1876T>C | |
| 12 | g.40263879T>G | CA384399191 | LRRK2 | c.1634T>G (p.Leu545Arg) c.*543T>G (n.*543T>G) c.1379T>G (p.Leu460Arg) c.878T>G (p.Leu293Arg) c.431T>G (p.Leu144Arg) n.1876T>G | |
| 12 | g.40263880G>A | CA479236932 | LRRK2 | c.1635G>A (p.Leu545=) c.*544G>A (n.*544G>A) c.1380G>A (p.Leu460=) c.879G>A (p.Leu293=) c.432G>A (p.Leu144=) n.1877G>A | ClinVar |
| 12 | g.40263880G>C | CA479236933 | LRRK2 | c.1635G>C (p.Leu545=) c.*544G>C (n.*544G>C) c.1380G>C (p.Leu460=) c.879G>C (p.Leu293=) c.432G>C (p.Leu144=) n.1877G>C | COSMIC COSMIC |
| 12 | g.40263880G= | CA2030916074 | LRRK2 | c.1635G= (p.Leu545=) c.*544G= (n.*544G=) c.1380G= (p.Leu460=) c.879G= (p.Leu293=) c.432G= (p.Leu144=) n.1877G= | |
| 12 | g.40263880G>T | CA479236934 | LRRK2 | c.1635G>T (p.Leu545=) c.*544G>T (n.*544G>T) c.1380G>T (p.Leu460=) c.879G>T (p.Leu293=) c.432G>T (p.Leu144=) n.1877G>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.40263881G>A | CA384399193 | LRRK2 | c.1636G>A (p.Val546Ile) c.*545G>A (n.*545G>A) c.1381G>A (p.Val461Ile) c.880G>A (p.Val294Ile) c.433G>A (p.Val145Ile) n.1878G>A | |
| 12 | g.40263881G>C | CA384399195 | LRRK2 | c.1636G>C (p.Val546Leu) c.*545G>C (n.*545G>C) c.1381G>C (p.Val461Leu) c.880G>C (p.Val294Leu) c.433G>C (p.Val145Leu) n.1878G>C | gnomAD v4 |
| 12 | g.40263881G>T | CA384399196 | LRRK2 | c.1636G>T (p.Val546Phe) c.*545G>T (n.*545G>T) c.1381G>T (p.Val461Phe) c.880G>T (p.Val294Phe) c.433G>T (p.Val145Phe) n.1878G>T | ClinVar |
| 12 | g.40263882T>A | CA384399197 | LRRK2 | c.1637T>A (p.Val546Asp) c.*546T>A (n.*546T>A) c.1382T>A (p.Val461Asp) c.881T>A (p.Val294Asp) c.434T>A (p.Val145Asp) n.1879T>A | |
| 12 | g.40263882T>C | CA384399198 | LRRK2 | c.1637T>C (p.Val546Ala) c.*546T>C (n.*546T>C) c.1382T>C (p.Val461Ala) c.881T>C (p.Val294Ala) c.434T>C (p.Val145Ala) n.1879T>C | |
| 12 | g.40263882T>G | CA384399200 | LRRK2 | c.1637T>G (p.Val546Gly) c.*546T>G (n.*546T>G) c.1382T>G (p.Val461Gly) c.881T>G (p.Val294Gly) c.434T>G (p.Val145Gly) n.1879T>G | |
| 12 | g.40263883C>A | CA479236936 | LRRK2 | c.1638C>A (p.Val546=) c.*547C>A (n.*547C>A) c.1383C>A (p.Val461=) c.882C>A (p.Val294=) c.435C>A (p.Val145=) n.1880C>A | gnomAD v4 |
| 12 | g.40263883C>G | CA479236937 | LRRK2 | c.1638C>G (p.Val546=) c.*547C>G (n.*547C>G) c.1383C>G (p.Val461=) c.882C>G (p.Val294=) c.435C>G (p.Val145=) n.1880C>G | |
| 12 | g.40263883C>T | CA479236938 | LRRK2 | c.1638C>T (p.Val546=) c.*547C>T (n.*547C>T) c.1383C>T (p.Val461=) c.882C>T (p.Val294=) c.435C>T (p.Val145=) n.1880C>T | |
| 12 | g.40263884C>A | CA384399203 | LRRK2 | c.1639C>A (p.Leu547Ile) c.*548C>A (n.*548C>A) c.1384C>A (p.Leu462Ile) c.883C>A (p.Leu295Ile) c.436C>A (p.Leu146Ile) n.1881C>A | gnomAD v4 |
| 12 | g.40263884C>G | CA384399208 | LRRK2 | c.1639C>G (p.Leu547Val) c.*548C>G (n.*548C>G) c.1384C>G (p.Leu462Val) c.883C>G (p.Leu295Val) c.436C>G (p.Leu146Val) n.1881C>G | |
| 12 | g.40263884C>T | CA479236939 | LRRK2 | c.1639C>T (p.Leu547=) c.*548C>T (n.*548C>T) c.1384C>T (p.Leu462=) c.883C>T (p.Leu295=) c.436C>T (p.Leu146=) n.1881C>T | gnomAD v4 |
| 12 | g.40263885T>A | CA384399224 | LRRK2 | c.1640T>A (p.Leu547Gln) c.*549T>A (n.*549T>A) c.1385T>A (p.Leu462Gln) c.884T>A (p.Leu295Gln) c.437T>A (p.Leu146Gln) n.1882T>A | |
| 12 | g.40263885T>C | CA384399221 | LRRK2 | c.1640T>C (p.Leu547Pro) c.*549T>C (n.*549T>C) c.1385T>C (p.Leu462Pro) c.884T>C (p.Leu295Pro) c.437T>C (p.Leu146Pro) n.1882T>C | |
| 12 | g.40263885T>G | CA384399220 | LRRK2 | c.1640T>G (p.Leu547Arg) c.*549T>G (n.*549T>G) c.1385T>G (p.Leu462Arg) c.884T>G (p.Leu295Arg) c.437T>G (p.Leu146Arg) n.1882T>G | |
| 12 | g.40263886A>C | CA479236940 | LRRK2 | c.1641A>C (p.Leu547=) c.*550A>C (n.*550A>C) c.1386A>C (p.Leu462=) c.885A>C (p.Leu295=) c.438A>C (p.Leu146=) n.1883A>C | |
| 12 | g.40263886A>G | CA479236941 | LRRK2 | c.1641A>G (p.Leu547=) c.*550A>G (n.*550A>G) c.1386A>G (p.Leu462=) c.885A>G (p.Leu295=) c.438A>G (p.Leu146=) n.1883A>G | ClinVar |
| 12 | g.40263886A>T | CA479236942 | LRRK2 | c.1641A>T (p.Leu547=) c.*550A>T (n.*550A>T) c.1386A>T (p.Leu462=) c.885A>T (p.Leu295=) c.438A>T (p.Leu146=) n.1883A>T | |
| 12 | g.40263887G>A | CA384399237 | LRRK2 | c.1642G>A (p.Ala548Thr) c.*551G>A (n.*551G>A) c.1387G>A (p.Ala463Thr) c.886G>A (p.Ala296Thr) c.439G>A (p.Ala147Thr) n.1884G>A | |
| 12 | g.40263887G>C | CA384399252 | LRRK2 | c.1642G>C (p.Ala548Pro) c.*551G>C (n.*551G>C) c.1387G>C (p.Ala463Pro) c.886G>C (p.Ala296Pro) c.439G>C (p.Ala147Pro) n.1884G>C | |
| 12 | g.40263887G>T | CA384399244 | LRRK2 | c.1642G>T (p.Ala548Ser) c.*551G>T (n.*551G>T) c.1387G>T (p.Ala463Ser) c.886G>T (p.Ala296Ser) c.439G>T (p.Ala147Ser) n.1884G>T | |
| 12 | g.40263888C>A | CA235319365 | LRRK2 | c.1643C>A (p.Ala548Glu) c.*552C>A (n.*552C>A) c.1388C>A (p.Ala463Glu) c.887C>A (p.Ala296Glu) c.440C>A (p.Ala147Glu) n.1885C>A | ClinVar dbSNP |
| 12 | g.40263888C= | CA2030916081 | LRRK2 | c.1643C= (p.Ala548=) c.*552C= (n.*552C=) c.1388C= (p.Ala463=) c.887C= (p.Ala296=) c.440C= (p.Ala147=) n.1885C= | |
| 12 | g.40263888C>G | CA384399255 | LRRK2 | c.1643C>G (p.Ala548Gly) c.*552C>G (n.*552C>G) c.1388C>G (p.Ala463Gly) c.887C>G (p.Ala296Gly) c.440C>G (p.Ala147Gly) n.1885C>G | |
| 12 | g.40263888C>T | CA384399254 | LRRK2 | c.1643C>T (p.Ala548Val) c.*552C>T (n.*552C>T) c.1388C>T (p.Ala463Val) c.887C>T (p.Ala296Val) c.440C>T (p.Ala147Val) n.1885C>T | ClinVar gnomAD v4 |
| 12 | g.40263889A>C | CA479236943 | LRRK2 | c.1644A>C (p.Ala548=) c.*553A>C (n.*553A>C) c.1389A>C (p.Ala463=) c.888A>C (p.Ala296=) c.441A>C (p.Ala147=) n.1886A>C | |
| 12 | g.40263889A>G | CA479236944 | LRRK2 | c.1644A>G (p.Ala548=) c.*553A>G (n.*553A>G) c.1389A>G (p.Ala463=) c.888A>G (p.Ala296=) c.441A>G (p.Ala147=) n.1886A>G | |
| 12 | g.40263889A>T | CA479236945 | LRRK2 | c.1644A>T (p.Ala548=) c.*553A>T (n.*553A>T) c.1389A>T (p.Ala463=) c.888A>T (p.Ala296=) c.441A>T (p.Ala147=) n.1886A>T | |
| 12 | g.40263890G>A | CA384399258 | LRRK2 | c.1645G>A (p.Ala549Thr) c.*554G>A (n.*554G>A) c.1390G>A (p.Ala464Thr) c.889G>A (p.Ala297Thr) c.442G>A (p.Ala148Thr) n.1887G>A | gnomAD v4 |
| 12 | g.40263890G>C | CA384399264 | LRRK2 | c.1645G>C (p.Ala549Pro) c.*554G>C (n.*554G>C) c.1390G>C (p.Ala464Pro) c.889G>C (p.Ala297Pro) c.442G>C (p.Ala148Pro) n.1887G>C | dbSNP |
| 12 | g.40263890G>T | CA384399266 | LRRK2 | c.1645G>T (p.Ala549Ser) c.*554G>T (n.*554G>T) c.1390G>T (p.Ala464Ser) c.889G>T (p.Ala297Ser) c.442G>T (p.Ala148Ser) n.1887G>T | gnomAD v4 |
| 12 | g.40263891C>A | CA384399269 | LRRK2 | c.1646C>A (p.Ala549Asp) c.*555C>A (n.*555C>A) c.1391C>A (p.Ala464Asp) c.890C>A (p.Ala297Asp) c.443C>A (p.Ala148Asp) n.1888C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.40263891C= | CA2030916088 | LRRK2 | c.1646C= (p.Ala549=) c.*555C= (n.*555C=) c.1391C= (p.Ala464=) c.890C= (p.Ala297=) c.443C= (p.Ala148=) n.1888C= | |
| 12 | g.40263891C>G | CA384399270 | LRRK2 | c.1646C>G (p.Ala549Gly) c.*555C>G (n.*555C>G) c.1391C>G (p.Ala464Gly) c.890C>G (p.Ala297Gly) c.443C>G (p.Ala148Gly) n.1888C>G | |
| 12 | g.40263891C>T | CA384399271 | LRRK2 | c.1646C>T (p.Ala549Val) c.*555C>T (n.*555C>T) c.1391C>T (p.Ala464Val) c.890C>T (p.Ala297Val) c.443C>T (p.Ala148Val) n.1888C>T | |
| 12 | g.40263892T>A | CA479236946 | LRRK2 | c.1647T>A (p.Ala549=) c.*556T>A (n.*556T>A) c.1392T>A (p.Ala464=) c.891T>A (p.Ala297=) c.444T>A (p.Ala148=) n.1889T>A | |
| 12 | g.40263892T>C | CA479236947 | LRRK2 | c.1647T>C (p.Ala549=) c.*556T>C (n.*556T>C) c.1392T>C (p.Ala464=) c.891T>C (p.Ala297=) c.444T>C (p.Ala148=) n.1889T>C | |
| 12 | g.40263892T>G | CA479236948 | LRRK2 | c.1647T>G (p.Ala549=) c.*556T>G (n.*556T>G) c.1392T>G (p.Ala464=) c.891T>G (p.Ala297=) c.444T>G (p.Ala148=) n.1889T>G | |
| 12 | g.40263893T>A | CA384399272 | LRRK2 | c.1648T>A (p.Leu550Met) c.*557T>A (n.*557T>A) c.1393T>A (p.Leu465Met) c.892T>A (p.Leu298Met) c.445T>A (p.Leu149Met) n.1890T>A | |
| 12 | g.40263893T>C | CA479236949 | LRRK2 | c.1648T>C (p.Leu550=) c.*557T>C (n.*557T>C) c.1393T>C (p.Leu465=) c.892T>C (p.Leu298=) c.445T>C (p.Leu149=) n.1890T>C | |
| 12 | g.40263893T>G | CA384399274 | LRRK2 | c.1648T>G (p.Leu550Val) c.*557T>G (n.*557T>G) c.1393T>G (p.Leu465Val) c.892T>G (p.Leu298Val) c.445T>G (p.Leu149Val) n.1890T>G | |
| 12 | g.40263894T>A | CA384399277 | LRRK2 | c.1649T>A (p.Leu550Ter) c.*558T>A (n.*558T>A) c.1394T>A (p.Leu465Ter) c.893T>A (p.Leu298Ter) c.446T>A (p.Leu149Ter) n.1891T>A | |
| 12 | g.40263894T>C | CA384399279 | LRRK2 | c.1649T>C (p.Leu550Ser) c.*558T>C (n.*558T>C) c.1394T>C (p.Leu465Ser) c.893T>C (p.Leu298Ser) c.446T>C (p.Leu149Ser) n.1891T>C | |
| 12 | g.40263894T>G | CA384399285 | LRRK2 | c.1649T>G (p.Leu550Trp) c.*558T>G (n.*558T>G) c.1394T>G (p.Leu465Trp) c.893T>G (p.Leu298Trp) c.446T>G (p.Leu149Trp) n.1891T>G | gnomAD v4 |
| 12 | g.40263895G>A | CA479236950 | LRRK2 | c.1650G>A (p.Leu550=) c.*559G>A (n.*559G>A) c.1395G>A (p.Leu465=) c.894G>A (p.Leu298=) c.447G>A (p.Leu149=) n.1892G>A | ClinVar |
| 12 | g.40263895G>C | CA384399287 | LRRK2 | c.1650G>C (p.Leu550Phe) c.*559G>C (n.*559G>C) c.1395G>C (p.Leu465Phe) c.894G>C (p.Leu298Phe) c.447G>C (p.Leu149Phe) n.1892G>C | |
| 12 | g.40263895G>T | CA384399291 | LRRK2 | c.1650G>T (p.Leu550Phe) c.*559G>T (n.*559G>T) c.1395G>T (p.Leu465Phe) c.894G>T (p.Leu298Phe) c.447G>T (p.Leu149Phe) n.1892G>T | |
| 12 | g.40263896A>C | CA384399295 | LRRK2 | c.1651A>C (p.Asn551His) c.*560A>C (n.*560A>C) c.1396A>C (p.Asn466His) c.895A>C (p.Asn299His) c.448A>C (p.Asn150His) n.1893A>C | |
| 12 | g.40263896A>G | CA384399298 | LRRK2 | c.1651A>G (p.Asn551Asp) c.*560A>G (n.*560A>G) c.1396A>G (p.Asn466Asp) c.895A>G (p.Asn299Asp) c.448A>G (p.Asn150Asp) n.1893A>G | |
| 12 | g.40263896A>T | CA384399296 | LRRK2 | c.1651A>T (p.Asn551Tyr) c.*560A>T (n.*560A>T) c.1396A>T (p.Asn466Tyr) c.895A>T (p.Asn299Tyr) c.448A>T (p.Asn150Tyr) n.1893A>T | |
| 12 | g.40263897A>C | CA384399301 | LRRK2 | c.1652A>C (p.Asn551Thr) c.*561A>C (n.*561A>C) c.1397A>C (p.Asn466Thr) c.896A>C (p.Asn299Thr) c.449A>C (p.Asn150Thr) n.1894A>C | |
| 12 | g.40263897A>G | CA384399302 | LRRK2 | c.1652A>G (p.Asn551Ser) c.*561A>G (n.*561A>G) c.1397A>G (p.Asn466Ser) c.896A>G (p.Asn299Ser) c.449A>G (p.Asn150Ser) n.1894A>G | gnomAD v4 |
| 12 | g.40263897A>T | CA384399303 | LRRK2 | c.1652A>T (p.Asn551Ile) c.*561A>T (n.*561A>T) c.1397A>T (p.Asn466Ile) c.896A>T (p.Asn299Ile) c.449A>T (p.Asn150Ile) n.1894A>T | |
| 12 | g.40263898C>A | CA384399304 | LRRK2 | c.1653C>A (p.Asn551Lys) c.*562C>A (n.*562C>A) c.1398C>A (p.Asn466Lys) c.897C>A (p.Asn299Lys) c.450C>A (p.Asn150Lys) n.1895C>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.40263898C= | CA2030916099 | LRRK2 | c.1653C= (p.Asn551=) c.*562C= (n.*562C=) c.1398C= (p.Asn466=) c.897C= (p.Asn299=) c.450C= (p.Asn150=) n.1895C= | |
| 12 | g.40263898C>G | CA343489 | LRRK2 | c.1653C>G (p.Asn551Lys) c.*562C>G (n.*562C>G) c.1398C>G (p.Asn466Lys) c.897C>G (p.Asn299Lys) c.450C>G (p.Asn150Lys) n.1895C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40263898C>T | CA479236951 | LRRK2 | c.1653C>T (p.Asn551=) c.*562C>T (n.*562C>T) c.1398C>T (p.Asn466=) c.897C>T (p.Asn299=) c.450C>T (p.Asn150=) n.1895C>T | ClinVar gnomAD v4 |