| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.40340423A>C | CA384404078 | LRRK2 | c.6078A>C (p.Arg2026Ser) c.*4987A>C (n.*4987A>C) c.1852A>C c.1523A>C (n.1523A>C) c.1723A>C c.1245A>C (n.1245A>C) c.1535A>C c.5823A>C (p.Arg1941Ser) n.2062A>C c.1761A>C (p.Arg587Ser) c.3374A>C n.2759A>C c.4875A>C (p.Arg1625Ser) c.2994A>C (p.Arg998Ser) c.2340A>C (p.Arg780Ser) | |
| 12 | g.40340423A>G | CA479238793 | LRRK2 | c.6078A>G (p.Arg2026=) c.*4987A>G (n.*4987A>G) c.1852A>G c.1523A>G (n.1523A>G) c.1723A>G c.1245A>G (n.1245A>G) c.1535A>G c.5823A>G (p.Arg1941=) n.2062A>G c.1761A>G (p.Arg587=) c.3374A>G n.2759A>G c.4875A>G (p.Arg1625=) c.2994A>G (p.Arg998=) c.2340A>G (p.Arg780=) | ClinVar |
| 12 | g.40340423A>T | CA384404080 | LRRK2 | c.6078A>T (p.Arg2026Ser) c.*4987A>T (n.*4987A>T) c.1852A>T c.1523A>T (n.1523A>T) c.1723A>T c.1245A>T (n.1245A>T) c.1535A>T c.5823A>T (p.Arg1941Ser) n.2062A>T c.1761A>T (p.Arg587Ser) c.3374A>T n.2759A>T c.4875A>T (p.Arg1625Ser) c.2994A>T (p.Arg998Ser) c.2340A>T (p.Arg780Ser) | |
| 12 | g.40340424A>C | CA384404086 | LRRK2 | c.6079A>C (p.Met2027Leu) c.*4988A>C (n.*4988A>C) c.1853A>C c.1524A>C (n.1524A>C) c.1724A>C c.1246A>C (n.1246A>C) c.1536A>C c.5824A>C (p.Met1942Leu) n.2063A>C c.1762A>C (p.Met588Leu) c.3375A>C n.2760A>C c.4876A>C (p.Met1626Leu) c.2995A>C (p.Met999Leu) c.2341A>C (p.Met781Leu) | |
| 12 | g.40340424A>G | CA384404084 | LRRK2 | c.6079A>G (p.Met2027Val) c.*4988A>G (n.*4988A>G) c.1853A>G c.1524A>G (n.1524A>G) c.1724A>G c.1246A>G (n.1246A>G) c.1536A>G c.5824A>G (p.Met1942Val) n.2063A>G c.1762A>G (p.Met588Val) c.3375A>G n.2760A>G c.4876A>G (p.Met1626Val) c.2995A>G (p.Met999Val) c.2341A>G (p.Met781Val) | |
| 12 | g.40340424A>T | CA384404082 | LRRK2 | c.6079A>T (p.Met2027Leu) c.*4988A>T (n.*4988A>T) c.1853A>T c.1524A>T (n.1524A>T) c.1724A>T c.1246A>T (n.1246A>T) c.1536A>T c.5824A>T (p.Met1942Leu) n.2063A>T c.1762A>T (p.Met588Leu) c.3375A>T n.2760A>T c.4876A>T (p.Met1626Leu) c.2995A>T (p.Met999Leu) c.2341A>T (p.Met781Leu) | |
| 12 | g.40340425T>A | CA384404088 | LRRK2 | c.6080T>A (p.Met2027Lys) c.*4989T>A (n.*4989T>A) c.1854T>A c.1525T>A (n.1525T>A) c.1725T>A c.1247T>A (n.1247T>A) c.1537T>A c.5825T>A (p.Met1942Lys) n.2064T>A c.1763T>A (p.Met588Lys) c.3376T>A n.2761T>A c.4877T>A (p.Met1626Lys) c.2996T>A (p.Met999Lys) c.2342T>A (p.Met781Lys) | |
| 12 | g.40340425T>C | CA384404090 | LRRK2 | c.6080T>C (p.Met2027Thr) c.*4989T>C (n.*4989T>C) c.1854T>C c.1525T>C (n.1525T>C) c.1725T>C c.1247T>C (n.1247T>C) c.1537T>C c.5825T>C (p.Met1942Thr) n.2064T>C c.1763T>C (p.Met588Thr) c.3376T>C n.2761T>C c.4877T>C (p.Met1626Thr) c.2996T>C (p.Met999Thr) c.2342T>C (p.Met781Thr) | |
| 12 | g.40340425T>G | CA384404091 | LRRK2 | c.6080T>G (p.Met2027Arg) c.*4989T>G (n.*4989T>G) c.1854T>G c.1525T>G (n.1525T>G) c.1725T>G c.1247T>G (n.1247T>G) c.1537T>G c.5825T>G (p.Met1942Arg) n.2064T>G c.1763T>G (p.Met588Arg) c.3376T>G n.2761T>G c.4877T>G (p.Met1626Arg) c.2996T>G (p.Met999Arg) c.2342T>G (p.Met781Arg) | |
| 12 | g.40340426G>A | CA384404093 | LRRK2 | c.6081G>A (p.Met2027Ile) c.*4990G>A (n.*4990G>A) c.1855G>A c.1526G>A (n.1526G>A) c.1726G>A c.1248G>A (n.1248G>A) c.1538G>A c.5826G>A (p.Met1942Ile) n.2065G>A c.1764G>A (p.Met588Ile) c.3377G>A n.2762G>A c.4878G>A (p.Met1626Ile) c.2997G>A (p.Met999Ile) c.2343G>A (p.Met781Ile) | |
| 12 | g.40340426G>C | CA384404095 | LRRK2 | c.6081G>C (p.Met2027Ile) c.*4990G>C (n.*4990G>C) c.1855G>C c.1526G>C (n.1526G>C) c.1726G>C c.1248G>C (n.1248G>C) c.1538G>C c.5826G>C (p.Met1942Ile) n.2065G>C c.1764G>C (p.Met588Ile) c.3377G>C n.2762G>C c.4878G>C (p.Met1626Ile) c.2997G>C (p.Met999Ile) c.2343G>C (p.Met781Ile) | |
| 12 | g.40340426G>T | CA384404096 | LRRK2 | c.6081G>T (p.Met2027Ile) c.*4990G>T (n.*4990G>T) c.1855G>T c.1526G>T (n.1526G>T) c.1726G>T c.1248G>T (n.1248G>T) c.1538G>T c.5826G>T (p.Met1942Ile) n.2065G>T c.1764G>T (p.Met588Ile) c.3377G>T n.2762G>T c.4878G>T (p.Met1626Ile) c.2997G>T (p.Met999Ile) c.2343G>T (p.Met781Ile) | |
| 12 | g.40340427G>A | CA384404099 | LRRK2 | c.6082G>A (p.Gly2028Arg) c.*4991G>A (n.*4991G>A) c.1856G>A c.1527G>A (n.1527G>A) c.1727G>A c.1249G>A (n.1249G>A) c.1539G>A c.5827G>A (p.Gly1943Arg) n.2066G>A c.1765G>A (p.Gly589Arg) c.3378G>A n.2763G>A c.4879G>A (p.Gly1627Arg) c.2998G>A (p.Gly1000Arg) c.2344G>A (p.Gly782Arg) | gnomAD v4 COSMIC COSMIC |
| 12 | g.40340427G>C | CA384404103 | LRRK2 | c.6082G>C (p.Gly2028Arg) c.*4991G>C (n.*4991G>C) c.1856G>C c.1527G>C (n.1527G>C) c.1727G>C c.1249G>C (n.1249G>C) c.1539G>C c.5827G>C (p.Gly1943Arg) n.2066G>C c.1765G>C (p.Gly589Arg) c.3378G>C n.2763G>C c.4879G>C (p.Gly1627Arg) c.2998G>C (p.Gly1000Arg) c.2344G>C (p.Gly782Arg) | gnomAD v4 |
| 12 | g.40340427G>T | CA384404101 | LRRK2 | c.6082G>T (p.Gly2028Trp) c.*4991G>T (n.*4991G>T) c.1856G>T c.1527G>T (n.1527G>T) c.1727G>T c.1249G>T (n.1249G>T) c.1539G>T c.5827G>T (p.Gly1943Trp) n.2066G>T c.1765G>T (p.Gly589Trp) c.3378G>T n.2763G>T c.4879G>T (p.Gly1627Trp) c.2998G>T (p.Gly1000Trp) c.2344G>T (p.Gly782Trp) | |
| 12 | g.40340428G>A | CA384404105 | LRRK2 | c.6083G>A (p.Gly2028Glu) c.*4992G>A (n.*4992G>A) c.1857G>A c.1528G>A (n.1528G>A) c.1728G>A c.1250G>A (n.1250G>A) c.1540G>A c.5828G>A (p.Gly1943Glu) n.2067G>A c.1766G>A (p.Gly589Glu) c.3379G>A n.2764G>A c.4880G>A (p.Gly1627Glu) c.2999G>A (p.Gly1000Glu) c.2345G>A (p.Gly782Glu) | gnomAD v4 |
| 12 | g.40340428G>C | CA384404107 | LRRK2 | c.6083G>C (p.Gly2028Ala) c.*4992G>C (n.*4992G>C) c.1857G>C c.1528G>C (n.1528G>C) c.1728G>C c.1250G>C (n.1250G>C) c.1540G>C c.5828G>C (p.Gly1943Ala) n.2067G>C c.1766G>C (p.Gly589Ala) c.3379G>C n.2764G>C c.4880G>C (p.Gly1627Ala) c.2999G>C (p.Gly1000Ala) c.2345G>C (p.Gly782Ala) | |
| 12 | g.40340428G>T | CA384404109 | LRRK2 | c.6083G>T (p.Gly2028Val) c.*4992G>T (n.*4992G>T) c.1857G>T c.1528G>T (n.1528G>T) c.1728G>T c.1250G>T (n.1250G>T) c.1540G>T c.5828G>T (p.Gly1943Val) n.2067G>T c.1766G>T (p.Gly589Val) c.3379G>T n.2764G>T c.4880G>T (p.Gly1627Val) c.2999G>T (p.Gly1000Val) c.2345G>T (p.Gly782Val) | |
| 12 | g.40340429G>A | CA6514598 | LRRK2 | c.6084G>A (p.Gly2028=) c.*4993G>A (n.*4993G>A) c.1858G>A c.1529G>A (n.1529G>A) c.1729G>A c.1251G>A (n.1251G>A) c.1541G>A c.5829G>A (p.Gly1943=) n.2068G>A c.1767G>A (p.Gly589=) c.3380G>A n.2765G>A c.4881G>A (p.Gly1627=) c.3000G>A (p.Gly1000=) c.2346G>A (p.Gly782=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.40340429G>C | CA479238810 | LRRK2 | c.6084G>C (p.Gly2028=) c.*4993G>C (n.*4993G>C) c.1858G>C c.1529G>C (n.1529G>C) c.1729G>C c.1251G>C (n.1251G>C) c.1541G>C c.5829G>C (p.Gly1943=) n.2068G>C c.1767G>C (p.Gly589=) c.3380G>C n.2765G>C c.4881G>C (p.Gly1627=) c.3000G>C (p.Gly1000=) c.2346G>C (p.Gly782=) | |
| 12 | g.40340429G= | CA2031027303 | LRRK2 | c.6084G= (p.Gly2028=) c.*4993G= (n.*4993G=) c.1858G= c.1529G= (n.1529G=) c.1729G= c.1251G= (n.1251G=) c.1541G= c.5829G= (p.Gly1943=) n.2068G= c.1767G= (p.Gly589=) c.3380G= n.2765G= c.4881G= (p.Gly1627=) c.3000G= (p.Gly1000=) c.2346G= (p.Gly782=) | |
| 12 | g.40340429G>T | CA235333815 | LRRK2 | c.6084G>T (p.Gly2028=) c.*4993G>T (n.*4993G>T) c.1858G>T c.1529G>T (n.1529G>T) c.1729G>T c.1251G>T (n.1251G>T) c.1541G>T c.5829G>T (p.Gly1943=) n.2068G>T c.1767G>T (p.Gly589=) c.3380G>T n.2765G>T c.4881G>T (p.Gly1627=) c.3000G>T (p.Gly1000=) c.2346G>T (p.Gly782=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40340430A>C | CA384404112 | LRRK2 | c.6085A>C (p.Ile2029Leu) c.*4994A>C (n.*4994A>C) c.1859A>C c.1530A>C (n.1530A>C) c.1730A>C c.1252A>C (n.1252A>C) c.1542A>C c.5830A>C (p.Ile1944Leu) n.2069A>C c.1768A>C (p.Ile590Leu) c.3381A>C n.2766A>C c.4882A>C (p.Ile1628Leu) c.3001A>C (p.Ile1001Leu) c.2347A>C (p.Ile783Leu) | |
| 12 | g.40340430A>G | CA384404114 | LRRK2 | c.6085A>G (p.Ile2029Val) c.*4994A>G (n.*4994A>G) c.1859A>G c.1530A>G (n.1530A>G) c.1730A>G c.1252A>G (n.1252A>G) c.1542A>G c.5830A>G (p.Ile1944Val) n.2069A>G c.1768A>G (p.Ile590Val) c.3381A>G n.2766A>G c.4882A>G (p.Ile1628Val) c.3001A>G (p.Ile1001Val) c.2347A>G (p.Ile783Val) | |
| 12 | g.40340430A>T | CA384404115 | LRRK2 | c.6085A>T (p.Ile2029Leu) c.*4994A>T (n.*4994A>T) c.1859A>T c.1530A>T (n.1530A>T) c.1730A>T c.1252A>T (n.1252A>T) c.1542A>T c.5830A>T (p.Ile1944Leu) n.2069A>T c.1768A>T (p.Ile590Leu) c.3381A>T n.2766A>T c.4882A>T (p.Ile1628Leu) c.3001A>T (p.Ile1001Leu) c.2347A>T (p.Ile783Leu) | |
| 12 | g.40340431T>A | CA384404118 | LRRK2 | c.6086T>A (p.Ile2029Lys) c.*4995T>A (n.*4995T>A) c.1860T>A c.1531T>A (n.1531T>A) c.1731T>A c.1253T>A (n.1253T>A) c.1543T>A c.5831T>A (p.Ile1944Lys) n.2070T>A c.1769T>A (p.Ile590Lys) c.3382T>A n.2767T>A c.4883T>A (p.Ile1628Lys) c.3002T>A (p.Ile1001Lys) c.2348T>A (p.Ile783Lys) | |
| 12 | g.40340431T>C | CA384404120 | LRRK2 | c.6086T>C (p.Ile2029Thr) c.*4995T>C (n.*4995T>C) c.1860T>C c.1531T>C (n.1531T>C) c.1731T>C c.1253T>C (n.1253T>C) c.1543T>C c.5831T>C (p.Ile1944Thr) n.2070T>C c.1769T>C (p.Ile590Thr) c.3382T>C n.2767T>C c.4883T>C (p.Ile1628Thr) c.3002T>C (p.Ile1001Thr) c.2348T>C (p.Ile783Thr) | |
| 12 | g.40340431T>G | CA384404121 | LRRK2 | c.6086T>G (p.Ile2029Arg) c.*4995T>G (n.*4995T>G) c.1860T>G c.1531T>G (n.1531T>G) c.1731T>G c.1253T>G (n.1253T>G) c.1543T>G c.5831T>G (p.Ile1944Arg) n.2070T>G c.1769T>G (p.Ile590Arg) c.3382T>G n.2767T>G c.4883T>G (p.Ile1628Arg) c.3002T>G (p.Ile1001Arg) c.2348T>G (p.Ile783Arg) | |
| 12 | g.40340432A= | CA2031027309 | LRRK2 | c.6087A= (p.Ile2029=) c.*4996A= (n.*4996A=) c.1861A= c.1532A= (n.1532A=) c.1732A= c.1254A= (n.1254A=) c.1544A= c.5832A= (p.Ile1944=) n.2071A= c.1770A= (p.Ile590=) c.3383A= n.2768A= c.4884A= (p.Ile1628=) c.3003A= (p.Ile1001=) c.2349A= (p.Ile783=) | |
| 12 | g.40340432A>C | CA479238817 | LRRK2 | c.6087A>C (p.Ile2029=) c.*4996A>C (n.*4996A>C) c.1861A>C c.1532A>C (n.1532A>C) c.1732A>C c.1254A>C (n.1254A>C) c.1544A>C c.5832A>C (p.Ile1944=) n.2071A>C c.1770A>C (p.Ile590=) c.3383A>C n.2768A>C c.4884A>C (p.Ile1628=) c.3003A>C (p.Ile1001=) c.2349A>C (p.Ile783=) | |
| 12 | g.40340432A>G | CA6514599 | LRRK2 | c.6087A>G (p.Ile2029Met) c.*4996A>G (n.*4996A>G) c.1861A>G c.1532A>G (n.1532A>G) c.1732A>G c.1254A>G (n.1254A>G) c.1544A>G c.5832A>G (p.Ile1944Met) n.2071A>G c.1770A>G (p.Ile590Met) c.3383A>G n.2768A>G c.4884A>G (p.Ile1628Met) c.3003A>G (p.Ile1001Met) c.2349A>G (p.Ile783Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.40340432A>T | CA479238820 | LRRK2 | c.6087A>T (p.Ile2029=) c.*4996A>T (n.*4996A>T) c.1861A>T c.1532A>T (n.1532A>T) c.1732A>T c.1254A>T (n.1254A>T) c.1544A>T c.5832A>T (p.Ile1944=) n.2071A>T c.1770A>T (p.Ile590=) c.3383A>T n.2768A>T c.4884A>T (p.Ile1628=) c.3003A>T (p.Ile1001=) c.2349A>T (p.Ile783=) | |
| 12 | g.40340433A>C | CA384404126 | LRRK2 | c.6088A>C (p.Lys2030Gln) c.*4997A>C (n.*4997A>C) c.1862A>C c.1533A>C (n.1533A>C) c.1733A>C c.1255A>C (n.1255A>C) c.1545A>C c.5833A>C (p.Lys1945Gln) n.2072A>C c.1771A>C (p.Lys591Gln) c.3384A>C n.2769A>C c.4885A>C (p.Lys1629Gln) c.3004A>C (p.Lys1002Gln) c.2350A>C (p.Lys784Gln) | COSMIC COSMIC |
| 12 | g.40340433A>G | CA384404128 | LRRK2 | c.6088A>G (p.Lys2030Glu) c.*4997A>G (n.*4997A>G) c.1862A>G c.1533A>G (n.1533A>G) c.1733A>G c.1255A>G (n.1255A>G) c.1545A>G c.5833A>G (p.Lys1945Glu) n.2072A>G c.1771A>G (p.Lys591Glu) c.3384A>G n.2769A>G c.4885A>G (p.Lys1629Glu) c.3004A>G (p.Lys1002Glu) c.2350A>G (p.Lys784Glu) | |
| 12 | g.40340433A>T | CA384404125 | LRRK2 | c.6088A>T (p.Lys2030Ter) c.*4997A>T (n.*4997A>T) c.1862A>T c.1533A>T (n.1533A>T) c.1733A>T c.1255A>T (n.1255A>T) c.1545A>T c.5833A>T (p.Lys1945Ter) n.2072A>T c.1771A>T (p.Lys591Ter) c.3384A>T n.2769A>T c.4885A>T (p.Lys1629Ter) c.3004A>T (p.Lys1002Ter) c.2350A>T (p.Lys784Ter) | |
| 12 | g.40340434A>C | CA384404133 | LRRK2 | c.6089A>C (p.Lys2030Thr) c.*4998A>C (n.*4998A>C) c.1863A>C c.1534A>C (n.1534A>C) c.1734A>C c.1256A>C (n.1256A>C) c.1546A>C c.5834A>C (p.Lys1945Thr) n.2073A>C c.1772A>C (p.Lys591Thr) c.3385A>C n.2770A>C c.4886A>C (p.Lys1629Thr) c.3005A>C (p.Lys1002Thr) c.2351A>C (p.Lys784Thr) | |
| 12 | g.40340434A>G | CA384404130 | LRRK2 | c.6089A>G (p.Lys2030Arg) c.*4998A>G (n.*4998A>G) c.1863A>G c.1534A>G (n.1534A>G) c.1734A>G c.1256A>G (n.1256A>G) c.1546A>G c.5834A>G (p.Lys1945Arg) n.2073A>G c.1772A>G (p.Lys591Arg) c.3385A>G n.2770A>G c.4886A>G (p.Lys1629Arg) c.3005A>G (p.Lys1002Arg) c.2351A>G (p.Lys784Arg) | |
| 12 | g.40340434A>T | CA384404131 | LRRK2 | c.6089A>T (p.Lys2030Ile) c.*4998A>T (n.*4998A>T) c.1863A>T c.1534A>T (n.1534A>T) c.1734A>T c.1256A>T (n.1256A>T) c.1546A>T c.5834A>T (p.Lys1945Ile) n.2073A>T c.1772A>T (p.Lys591Ile) c.3385A>T n.2770A>T c.4886A>T (p.Lys1629Ile) c.3005A>T (p.Lys1002Ile) c.2351A>T (p.Lys784Ile) | |
| 12 | g.40340435A>C | CA384404135 | LRRK2 | c.6090A>C (p.Lys2030Asn) c.*4999A>C (n.*4999A>C) c.1864A>C c.1535A>C (n.1535A>C) c.1735A>C c.1257A>C (n.1257A>C) c.1547A>C c.5835A>C (p.Lys1945Asn) n.2074A>C c.1773A>C (p.Lys591Asn) c.3386A>C n.2771A>C c.4887A>C (p.Lys1629Asn) c.3006A>C (p.Lys1002Asn) c.2352A>C (p.Lys784Asn) | |
| 12 | g.40340435A>G | CA479238827 | LRRK2 | c.6090A>G (p.Lys2030=) c.*4999A>G (n.*4999A>G) c.1864A>G c.1535A>G (n.1535A>G) c.1735A>G c.1257A>G (n.1257A>G) c.1547A>G c.5835A>G (p.Lys1945=) n.2074A>G c.1773A>G (p.Lys591=) c.3386A>G n.2771A>G c.4887A>G (p.Lys1629=) c.3006A>G (p.Lys1002=) c.2352A>G (p.Lys784=) | |
| 12 | g.40340435A>T | CA384404136 | LRRK2 | c.6090A>T (p.Lys2030Asn) c.*4999A>T (n.*4999A>T) c.1864A>T c.1535A>T (n.1535A>T) c.1735A>T c.1257A>T (n.1257A>T) c.1547A>T c.5835A>T (p.Lys1945Asn) n.2074A>T c.1773A>T (p.Lys591Asn) c.3386A>T n.2771A>T c.4887A>T (p.Lys1629Asn) c.3006A>T (p.Lys1002Asn) c.2352A>T (p.Lys784Asn) | |
| 12 | g.40340436A= | CA2031027319 | LRRK2 | c.6091A= (p.Thr2031=) c.*5000A= (n.*5000A=) c.1865A= c.1536A= (n.1536A=) c.1736A= c.1258A= (n.1258A=) c.1548A= c.5836A= (p.Thr1946=) n.2075A= c.1774A= (p.Thr592=) c.3387A= n.2772A= c.4888A= (p.Thr1630=) c.3007A= (p.Thr1003=) c.2353A= (p.Thr785=) | |
| 12 | g.40340436A>C | CA384404138 | LRRK2 | c.6091A>C (p.Thr2031Pro) c.*5000A>C (n.*5000A>C) c.1865A>C c.1536A>C (n.1536A>C) c.1736A>C c.1258A>C (n.1258A>C) c.1548A>C c.5836A>C (p.Thr1946Pro) n.2075A>C c.1774A>C (p.Thr592Pro) c.3387A>C n.2772A>C c.4888A>C (p.Thr1630Pro) c.3007A>C (p.Thr1003Pro) c.2353A>C (p.Thr785Pro) | gnomAD v4 |
| 12 | g.40340436A>G | CA384404140 | LRRK2 | c.6091A>G (p.Thr2031Ala) c.*5000A>G (n.*5000A>G) c.1865A>G c.1536A>G (n.1536A>G) c.1736A>G c.1258A>G (n.1258A>G) c.1548A>G c.5836A>G (p.Thr1946Ala) n.2075A>G c.1774A>G (p.Thr592Ala) c.3387A>G n.2772A>G c.4888A>G (p.Thr1630Ala) c.3007A>G (p.Thr1003Ala) c.2353A>G (p.Thr785Ala) | |
| 12 | g.40340436A>T | CA343648 | LRRK2 | c.6091A>T (p.Thr2031Ser) c.*5000A>T (n.*5000A>T) c.1865A>T c.1536A>T (n.1536A>T) c.1736A>T c.1258A>T (n.1258A>T) c.1548A>T c.5836A>T (p.Thr1946Ser) n.2075A>T c.1774A>T (p.Thr592Ser) c.3387A>T n.2772A>T c.4888A>T (p.Thr1630Ser) c.3007A>T (p.Thr1003Ser) c.2353A>T (p.Thr785Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.40340437C>A | CA384404143 | LRRK2 | c.6092C>A (p.Thr2031Lys) c.*5001C>A (n.*5001C>A) c.1866C>A c.1537C>A (n.1537C>A) c.1737C>A c.1259C>A (n.1259C>A) c.1549C>A c.5837C>A (p.Thr1946Lys) n.2076C>A c.1775C>A (p.Thr592Lys) c.3388C>A n.2773C>A c.4889C>A (p.Thr1630Lys) c.3008C>A (p.Thr1003Lys) c.2354C>A (p.Thr785Lys) | |
| 12 | g.40340437C>G | CA384404147 | LRRK2 | c.6092C>G (p.Thr2031Arg) c.*5001C>G (n.*5001C>G) c.1866C>G c.1537C>G (n.1537C>G) c.1737C>G c.1259C>G (n.1259C>G) c.1549C>G c.5837C>G (p.Thr1946Arg) n.2076C>G c.1775C>G (p.Thr592Arg) c.3388C>G n.2773C>G c.4889C>G (p.Thr1630Arg) c.3008C>G (p.Thr1003Arg) c.2354C>G (p.Thr785Arg) | |
| 12 | g.40340437C>T | CA384404145 | LRRK2 | c.6092C>T (p.Thr2031Ile) c.*5001C>T (n.*5001C>T) c.1866C>T c.1537C>T (n.1537C>T) c.1737C>T c.1259C>T (n.1259C>T) c.1549C>T c.5837C>T (p.Thr1946Ile) n.2076C>T c.1775C>T (p.Thr592Ile) c.3388C>T n.2773C>T c.4889C>T (p.Thr1630Ile) c.3008C>T (p.Thr1003Ile) c.2354C>T (p.Thr785Ile) | ClinVar |
| 12 | g.40340438A= | CA2031027326 | LRRK2 | c.6093A= (p.Thr2031=) c.*5002A= (n.*5002A=) c.1867A= c.1538A= (n.1538A=) c.1738A= c.1260A= (n.1260A=) c.1550A= c.5838A= (p.Thr1946=) n.2077A= c.1776A= (p.Thr592=) c.3389A= n.2774A= c.4890A= (p.Thr1630=) c.3009A= (p.Thr1003=) c.2355A= (p.Thr785=) | |
| 12 | g.40340438A>C | CA6514600 | LRRK2 | c.6093A>C (p.Thr2031=) c.*5002A>C (n.*5002A>C) c.1867A>C c.1538A>C (n.1538A>C) c.1738A>C c.1260A>C (n.1260A>C) c.1550A>C c.5838A>C (p.Thr1946=) n.2077A>C c.1776A>C (p.Thr592=) c.3389A>C n.2774A>C c.4890A>C (p.Thr1630=) c.3009A>C (p.Thr1003=) c.2355A>C (p.Thr785=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |