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.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 |
| 12 | g.40340438A>G | CA479238834 | LRRK2 | c.6093A>G (p.Thr2031=) c.*5002A>G (n.*5002A>G) c.1867A>G c.1538A>G (n.1538A>G) c.1738A>G c.1260A>G (n.1260A>G) c.1550A>G c.5838A>G (p.Thr1946=) n.2077A>G c.1776A>G (p.Thr592=) c.3389A>G n.2774A>G c.4890A>G (p.Thr1630=) c.3009A>G (p.Thr1003=) c.2355A>G (p.Thr785=) | ClinVar gnomAD v4 |
| 12 | g.40340438A>T | CA479238835 | LRRK2 | c.6093A>T (p.Thr2031=) c.*5002A>T (n.*5002A>T) c.1867A>T c.1538A>T (n.1538A>T) c.1738A>T c.1260A>T (n.1260A>T) c.1550A>T c.5838A>T (p.Thr1946=) n.2077A>T c.1776A>T (p.Thr592=) c.3389A>T n.2774A>T c.4890A>T (p.Thr1630=) c.3009A>T (p.Thr1003=) c.2355A>T (p.Thr785=) | |
| 12 | g.40340439T>A | CA6514601 | LRRK2 | c.6094T>A (p.Ser2032Thr) c.*5003T>A (n.*5003T>A) c.1868T>A c.1539T>A (n.1539T>A) c.1739T>A c.1261T>A (n.1261T>A) c.1551T>A c.5839T>A (p.Ser1947Thr) n.2078T>A c.1777T>A (p.Ser593Thr) c.3390T>A n.2775T>A c.4891T>A (p.Ser1631Thr) c.3010T>A (p.Ser1004Thr) c.2356T>A (p.Ser786Thr) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 12 | g.40340439T>C | CA384404152 | LRRK2 | c.6094T>C (p.Ser2032Pro) c.*5003T>C (n.*5003T>C) c.1868T>C c.1539T>C (n.1539T>C) c.1739T>C c.1261T>C (n.1261T>C) c.1551T>C c.5839T>C (p.Ser1947Pro) n.2078T>C c.1777T>C (p.Ser593Pro) c.3390T>C n.2775T>C c.4891T>C (p.Ser1631Pro) c.3010T>C (p.Ser1004Pro) c.2356T>C (p.Ser786Pro) | |
| 12 | g.40340439T>G | CA384404154 | LRRK2 | c.6094T>G (p.Ser2032Ala) c.*5003T>G (n.*5003T>G) c.1868T>G c.1539T>G (n.1539T>G) c.1739T>G c.1261T>G (n.1261T>G) c.1551T>G c.5839T>G (p.Ser1947Ala) n.2078T>G c.1777T>G (p.Ser593Ala) c.3390T>G n.2775T>G c.4891T>G (p.Ser1631Ala) c.3010T>G (p.Ser1004Ala) c.2356T>G (p.Ser786Ala) | |
| 12 | g.40340439T= | CA2031027333 | LRRK2 | c.6094T= (p.Ser2032=) c.*5003T= (n.*5003T=) c.1868T= c.1539T= (n.1539T=) c.1739T= c.1261T= (n.1261T=) c.1551T= c.5839T= (p.Ser1947=) n.2078T= c.1777T= (p.Ser593=) c.3390T= n.2775T= c.4891T= (p.Ser1631=) c.3010T= (p.Ser1004=) c.2356T= (p.Ser786=) | |
| 12 | g.40340440C>A | CA384404156 | LRRK2 | c.6095C>A (p.Ser2032Ter) c.*5004C>A (n.*5004C>A) c.1869C>A c.1540C>A (n.1540C>A) c.1740C>A c.1262C>A (n.1262C>A) c.1552C>A c.5840C>A (p.Ser1947Ter) n.2079C>A c.1778C>A (p.Ser593Ter) c.3391C>A n.2776C>A c.4892C>A (p.Ser1631Ter) c.3011C>A (p.Ser1004Ter) c.2357C>A (p.Ser786Ter) | |
| 12 | g.40340440C>G | CA384404160 | LRRK2 | c.6095C>G (p.Ser2032Ter) c.*5004C>G (n.*5004C>G) c.1869C>G c.1540C>G (n.1540C>G) c.1740C>G c.1262C>G (n.1262C>G) c.1552C>G c.5840C>G (p.Ser1947Ter) n.2079C>G c.1778C>G (p.Ser593Ter) c.3391C>G n.2776C>G c.4892C>G (p.Ser1631Ter) c.3011C>G (p.Ser1004Ter) c.2357C>G (p.Ser786Ter) | |
| 12 | g.40340440C>T | CA384404158 | LRRK2 | c.6095C>T (p.Ser2032Leu) c.*5004C>T (n.*5004C>T) c.1869C>T c.1540C>T (n.1540C>T) c.1740C>T c.1262C>T (n.1262C>T) c.1552C>T c.5840C>T (p.Ser1947Leu) n.2079C>T c.1778C>T (p.Ser593Leu) c.3391C>T n.2776C>T c.4892C>T (p.Ser1631Leu) c.3011C>T (p.Ser1004Leu) c.2357C>T (p.Ser786Leu) | |
| 12 | g.40340441A>C | CA479238842 | LRRK2 | c.6096A>C (p.Ser2032=) c.*5005A>C (n.*5005A>C) c.1870A>C c.1541A>C (n.1541A>C) c.1741A>C c.1263A>C (n.1263A>C) c.1553A>C c.5841A>C (p.Ser1947=) n.2080A>C c.1779A>C (p.Ser593=) c.3392A>C n.2777A>C c.4893A>C (p.Ser1631=) c.3012A>C (p.Ser1004=) c.2358A>C (p.Ser786=) | |
| 12 | g.40340441A>G | CA479238844 | LRRK2 | c.6096A>G (p.Ser2032=) c.*5005A>G (n.*5005A>G) c.1870A>G c.1541A>G (n.1541A>G) c.1741A>G c.1263A>G (n.1263A>G) c.1553A>G c.5841A>G (p.Ser1947=) n.2080A>G c.1779A>G (p.Ser593=) c.3392A>G n.2777A>G c.4893A>G (p.Ser1631=) c.3012A>G (p.Ser1004=) c.2358A>G (p.Ser786=) | |
| 12 | g.40340441A>T | CA479238846 | LRRK2 | c.6096A>T (p.Ser2032=) c.*5005A>T (n.*5005A>T) c.1870A>T c.1541A>T (n.1541A>T) c.1741A>T c.1263A>T (n.1263A>T) c.1553A>T c.5841A>T (p.Ser1947=) n.2080A>T c.1779A>T (p.Ser593=) c.3392A>T n.2777A>T c.4893A>T (p.Ser1631=) c.3012A>T (p.Ser1004=) c.2358A>T (p.Ser786=) | |
| 12 | g.40340442G>A | CA384404162 | LRRK2 | c.6097G>A (p.Glu2033Lys) c.*5006G>A (n.*5006G>A) c.1871G>A c.1542G>A (n.1542G>A) c.1742G>A c.1264G>A (n.1264G>A) c.1554G>A c.5842G>A (p.Glu1948Lys) n.2081G>A c.1780G>A (p.Glu594Lys) c.3393G>A n.2778G>A c.4894G>A (p.Glu1632Lys) c.3013G>A (p.Glu1005Lys) c.2359G>A (p.Glu787Lys) | |
| 12 | g.40340442G>C | CA384404164 | LRRK2 | c.6097G>C (p.Glu2033Gln) c.*5006G>C (n.*5006G>C) c.1871G>C c.1542G>C (n.1542G>C) c.1742G>C c.1264G>C (n.1264G>C) c.1554G>C c.5842G>C (p.Glu1948Gln) n.2081G>C c.1780G>C (p.Glu594Gln) c.3393G>C n.2778G>C c.4894G>C (p.Glu1632Gln) c.3013G>C (p.Glu1005Gln) c.2359G>C (p.Glu787Gln) | |
| 12 | g.40340442G>T | CA384404166 | LRRK2 | c.6097G>T (p.Glu2033Ter) c.*5006G>T (n.*5006G>T) c.1871G>T c.1542G>T (n.1542G>T) c.1742G>T c.1264G>T (n.1264G>T) c.1554G>T c.5842G>T (p.Glu1948Ter) n.2081G>T c.1780G>T (p.Glu594Ter) c.3393G>T n.2778G>T c.4894G>T (p.Glu1632Ter) c.3013G>T (p.Glu1005Ter) c.2359G>T (p.Glu787Ter) | |
| 12 | g.40340443A= | CA2031027343 | LRRK2 | c.6098A= (p.Glu2033=) c.*5007A= (n.*5007A=) c.1872A= c.1543A= (n.1543A=) c.1743A= c.1265A= (n.1265A=) c.1555A= c.5843A= (p.Glu1948=) n.2082A= c.1781A= (p.Glu594=) c.3394A= n.2779A= c.4895A= (p.Glu1632=) c.3014A= (p.Glu1005=) c.2360A= (p.Glu787=) | |
| 12 | g.40340443A>C | CA384404168 | LRRK2 | c.6098A>C (p.Glu2033Ala) c.*5007A>C (n.*5007A>C) c.1872A>C c.1543A>C (n.1543A>C) c.1743A>C c.1265A>C (n.1265A>C) c.1555A>C c.5843A>C (p.Glu1948Ala) n.2082A>C c.1781A>C (p.Glu594Ala) c.3394A>C n.2779A>C c.4895A>C (p.Glu1632Ala) c.3014A>C (p.Glu1005Ala) c.2360A>C (p.Glu787Ala) | |
| 12 | g.40340443A>G | CA384404170 | LRRK2 | c.6098A>G (p.Glu2033Gly) c.*5007A>G (n.*5007A>G) c.1872A>G c.1543A>G (n.1543A>G) c.1743A>G c.1265A>G (n.1265A>G) c.1555A>G c.5843A>G (p.Glu1948Gly) n.2082A>G c.1781A>G (p.Glu594Gly) c.3394A>G n.2779A>G c.4895A>G (p.Glu1632Gly) c.3014A>G (p.Glu1005Gly) c.2360A>G (p.Glu787Gly) | |
| 12 | g.40340443A>T | CA6514602 | LRRK2 | c.6098A>T (p.Glu2033Val) c.*5007A>T (n.*5007A>T) c.1872A>T c.1543A>T (n.1543A>T) c.1743A>T c.1265A>T (n.1265A>T) c.1555A>T c.5843A>T (p.Glu1948Val) n.2082A>T c.1781A>T (p.Glu594Val) c.3394A>T n.2779A>T c.4895A>T (p.Glu1632Val) c.3014A>T (p.Glu1005Val) c.2360A>T (p.Glu787Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.40340444G>A | CA479238854 | LRRK2 | c.6099G>A (p.Glu2033=) c.*5008G>A (n.*5008G>A) c.1873G>A c.1544G>A (n.1544G>A) c.1744G>A c.1266G>A (n.1266G>A) c.1556G>A c.5844G>A (p.Glu1948=) n.2083G>A c.1782G>A (p.Glu594=) c.3395G>A n.2780G>A c.4896G>A (p.Glu1632=) c.3015G>A (p.Glu1005=) c.2361G>A (p.Glu787=) | |
| 12 | g.40340444G>C | CA384404173 | LRRK2 | c.6099G>C (p.Glu2033Asp) c.*5008G>C (n.*5008G>C) c.1873G>C c.1544G>C (n.1544G>C) c.1744G>C c.1266G>C (n.1266G>C) c.1556G>C c.5844G>C (p.Glu1948Asp) n.2083G>C c.1782G>C (p.Glu594Asp) c.3395G>C n.2780G>C c.4896G>C (p.Glu1632Asp) c.3015G>C (p.Glu1005Asp) c.2361G>C (p.Glu787Asp) | |
| 12 | g.40340444G>T | CA384404175 | LRRK2 | c.6099G>T (p.Glu2033Asp) c.*5008G>T (n.*5008G>T) c.1873G>T c.1544G>T (n.1544G>T) c.1744G>T c.1266G>T (n.1266G>T) c.1556G>T c.5844G>T (p.Glu1948Asp) n.2083G>T c.1782G>T (p.Glu594Asp) c.3395G>T n.2780G>T c.4896G>T (p.Glu1632Asp) c.3015G>T (p.Glu1005Asp) c.2361G>T (p.Glu787Asp) | COSMIC COSMIC |