Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.40299133C>ACA6513889LRRK2c.3372C>A (p.Ser1124=)
c.*2281C>A (n.*2281C>A)
c.3117C>A (p.Ser1039=)
c.416C>A
n.53C>A
c.2169C>A (p.Ser723=)
c.288C>A (p.Ser96=)
n.3614C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.40299133C=CA2030983886LRRK2c.3372C= (p.Ser1124=)
c.*2281C= (n.*2281C=)
c.3117C= (p.Ser1039=)
c.416C=
n.53C=
c.2169C= (p.Ser723=)
c.288C= (p.Ser96=)
n.3614C=
12g.40299133C>GCA479251081LRRK2c.3372C>G (p.Ser1124=)
c.*2281C>G (n.*2281C>G)
c.3117C>G (p.Ser1039=)
c.416C>G
n.53C>G
c.2169C>G (p.Ser723=)
c.288C>G (p.Ser96=)
n.3614C>G
12g.40299133C>TCA479251083LRRK2c.3372C>T (p.Ser1124=)
c.*2281C>T (n.*2281C>T)
c.3117C>T (p.Ser1039=)
c.416C>T
n.53C>T
c.2169C>T (p.Ser723=)
c.288C>T (p.Ser96=)
n.3614C>T
 ClinVar gnomAD v4
12g.40299134C>ACA384415528LRRK2c.3373C>A (p.Pro1125Thr)
c.*2282C>A (n.*2282C>A)
c.3118C>A (p.Pro1040Thr)
c.417C>A
n.54C>A
c.2170C>A (p.Pro724Thr)
c.289C>A (p.Pro97Thr)
n.3615C>A
 ClinVar dbSNP gnomAD v4
12g.40299134C=CA2030983890LRRK2c.3373C= (p.Pro1125=)
c.*2282C= (n.*2282C=)
c.3118C= (p.Pro1040=)
c.417C=
n.54C=
c.2170C= (p.Pro724=)
c.289C= (p.Pro97=)
n.3615C=
12g.40299134C>GCA384415530LRRK2c.3373C>G (p.Pro1125Ala)
c.*2282C>G (n.*2282C>G)
c.3118C>G (p.Pro1040Ala)
c.417C>G
n.54C>G
c.2170C>G (p.Pro724Ala)
c.289C>G (p.Pro97Ala)
n.3615C>G
 ClinVar
12g.40299134C>TCA384415532LRRK2c.3373C>T (p.Pro1125Ser)
c.*2282C>T (n.*2282C>T)
c.3118C>T (p.Pro1040Ser)
c.417C>T
n.54C>T
c.2170C>T (p.Pro724Ser)
c.289C>T (p.Pro97Ser)
n.3615C>T
12g.40299135C>ACA384415534LRRK2c.3374C>A (p.Pro1125His)
c.*2283C>A (n.*2283C>A)
c.3119C>A (p.Pro1040His)
c.418C>A
n.55C>A
c.2171C>A (p.Pro724His)
c.290C>A (p.Pro97His)
n.3616C>A
12g.40299135C=CA2030983895LRRK2c.3374C= (p.Pro1125=)
c.*2283C= (n.*2283C=)
c.3119C= (p.Pro1040=)
c.418C=
n.55C=
c.2171C= (p.Pro724=)
c.290C= (p.Pro97=)
n.3616C=
12g.40299135C>GCA6513890LRRK2c.3374C>G (p.Pro1125Arg)
c.*2283C>G (n.*2283C>G)
c.3119C>G (p.Pro1040Arg)
c.418C>G
n.55C>G
c.2171C>G (p.Pro724Arg)
c.290C>G (p.Pro97Arg)
n.3616C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.40299135C>TCA384415536LRRK2c.3374C>T (p.Pro1125Leu)
c.*2283C>T (n.*2283C>T)
c.3119C>T (p.Pro1040Leu)
c.418C>T
n.55C>T
c.2171C>T (p.Pro724Leu)
c.290C>T (p.Pro97Leu)
n.3616C>T
 ClinVar gnomAD v4
12g.40299136C>ACA479251098LRRK2c.3375C>A (p.Pro1125=)
c.*2284C>A (n.*2284C>A)
c.3120C>A (p.Pro1040=)
c.419C>A
n.56C>A
c.2172C>A (p.Pro724=)
c.291C>A (p.Pro97=)
n.3617C>A
 gnomAD v4
12g.40299136C>GCA479251099LRRK2c.3375C>G (p.Pro1125=)
c.*2284C>G (n.*2284C>G)
c.3120C>G (p.Pro1040=)
c.419C>G
n.56C>G
c.2172C>G (p.Pro724=)
c.291C>G (p.Pro97=)
n.3617C>G
 ClinVar gnomAD v4
12g.40299136C>TCA479251101LRRK2c.3375C>T (p.Pro1125=)
c.*2284C>T (n.*2284C>T)
c.3120C>T (p.Pro1040=)
c.419C>T
n.56C>T
c.2172C>T (p.Pro724=)
c.291C>T (p.Pro97=)
n.3617C>T
 ClinVar gnomAD v4 COSMIC COSMIC
12g.40299137T>ACA384415538LRRK2c.3376T>A (p.Leu1126Met)
c.*2285T>A (n.*2285T>A)
c.3121T>A (p.Leu1041Met)
c.420T>A
n.57T>A
c.2173T>A (p.Leu725Met)
c.292T>A (p.Leu98Met)
n.3618T>A
12g.40299137T>CCA479251105LRRK2c.3376T>C (p.Leu1126=)
c.*2285T>C (n.*2285T>C)
c.3121T>C (p.Leu1041=)
c.420T>C
n.57T>C
c.2173T>C (p.Leu725=)
c.292T>C (p.Leu98=)
n.3618T>C
 gnomAD v4
12g.40299137T>GCA384415539LRRK2c.3376T>G (p.Leu1126Val)
c.*2285T>G (n.*2285T>G)
c.3121T>G (p.Leu1041Val)
c.420T>G
n.57T>G
c.2173T>G (p.Leu725Val)
c.292T>G (p.Leu98Val)
n.3618T>G
12g.40299138T>ACA384415541LRRK2c.3377T>A (p.Leu1126Ter)
c.*2286T>A (n.*2286T>A)
c.3122T>A (p.Leu1041Ter)
c.421T>A
n.58T>A
c.2174T>A (p.Leu725Ter)
c.293T>A (p.Leu98Ter)
n.3619T>A
12g.40299138T>CCA384415543LRRK2c.3377T>C (p.Leu1126Ser)
c.*2286T>C (n.*2286T>C)
c.3122T>C (p.Leu1041Ser)
c.421T>C
n.58T>C
c.2174T>C (p.Leu725Ser)
c.293T>C (p.Leu98Ser)
n.3619T>C
12g.40299138T>GCA384415545LRRK2c.3377T>G (p.Leu1126Trp)
c.*2286T>G (n.*2286T>G)
c.3122T>G (p.Leu1041Trp)
c.421T>G
n.58T>G
c.2174T>G (p.Leu725Trp)
c.293T>G (p.Leu98Trp)
n.3619T>G
12g.40299139G>ACA479251111LRRK2c.3378G>A (p.Leu1126=)
c.*2287G>A (n.*2287G>A)
c.3123G>A (p.Leu1041=)
c.422G>A
n.59G>A
c.2175G>A (p.Leu725=)
c.294G>A (p.Leu98=)
n.3620G>A
 COSMIC COSMIC
12g.40299139G>CCA384415546LRRK2c.3378G>C (p.Leu1126Phe)
c.*2287G>C (n.*2287G>C)
c.3123G>C (p.Leu1041Phe)
c.422G>C
n.59G>C
c.2175G>C (p.Leu725Phe)
c.294G>C (p.Leu98Phe)
n.3620G>C
12g.40299139G>TCA384415548LRRK2c.3378G>T (p.Leu1126Phe)
c.*2287G>T (n.*2287G>T)
c.3123G>T (p.Leu1041Phe)
c.422G>T
n.59G>T
c.2175G>T (p.Leu725Phe)
c.294G>T (p.Leu98Phe)
n.3620G>T
 ClinVar dbSNP gnomAD v4
12g.40299140A>CCA479251116LRRK2c.3379A>C (p.Arg1127=)
c.*2288A>C (n.*2288A>C)
c.3124A>C (p.Arg1042=)
c.423A>C
n.60A>C
c.2176A>C (p.Arg726=)
c.295A>C (p.Arg99=)
n.3621A>C
12g.40299140A>GCA384415551LRRK2c.3379A>G (p.Arg1127Gly)
c.*2288A>G (n.*2288A>G)
c.3124A>G (p.Arg1042Gly)
c.423A>G
n.60A>G
c.2176A>G (p.Arg726Gly)
c.295A>G (p.Arg99Gly)
n.3621A>G
12g.40299140A>TCA384415550LRRK2c.3379A>T (p.Arg1127Ter)
c.*2288A>T (n.*2288A>T)
c.3124A>T (p.Arg1042Ter)
c.423A>T
n.60A>T
c.2176A>T (p.Arg726Ter)
c.295A>T (p.Arg99Ter)
n.3621A>T
12g.40299141G>ACA384415553LRRK2c.3380G>A (p.Arg1127Lys)
c.*2289G>A (n.*2289G>A)
c.3125G>A (p.Arg1042Lys)
c.424G>A
n.61G>A
c.2177G>A (p.Arg726Lys)
c.296G>A (p.Arg99Lys)
n.3622G>A
12g.40299141G>CCA384415554LRRK2c.3380G>C (p.Arg1127Thr)
c.*2289G>C (n.*2289G>C)
c.3125G>C (p.Arg1042Thr)
c.424G>C
n.61G>C
c.2177G>C (p.Arg726Thr)
c.296G>C (p.Arg99Thr)
n.3622G>C
12g.40299141G>TCA384415555LRRK2c.3380G>T (p.Arg1127Ile)
c.*2289G>T (n.*2289G>T)
c.3125G>T (p.Arg1042Ile)
c.424G>T
n.61G>T
c.2177G>T (p.Arg726Ile)
c.296G>T (p.Arg99Ile)
n.3622G>T
12g.40299142A>CCA384415557LRRK2c.3381A>C (p.Arg1127Ser)
c.*2290A>C (n.*2290A>C)
c.3126A>C (p.Arg1042Ser)
c.425A>C
n.62A>C
c.2178A>C (p.Arg726Ser)
c.297A>C (p.Arg99Ser)
n.3623A>C
12g.40299142A>GCA479251117LRRK2c.3381A>G (p.Arg1127=)
c.*2290A>G (n.*2290A>G)
c.3126A>G (p.Arg1042=)
c.425A>G
n.62A>G
c.2178A>G (p.Arg726=)
c.297A>G (p.Arg99=)
n.3623A>G
12g.40299142A>TCA384415559LRRK2c.3381A>T (p.Arg1127Ser)
c.*2290A>T (n.*2290A>T)
c.3126A>T (p.Arg1042Ser)
c.425A>T
n.62A>T
c.2178A>T (p.Arg726Ser)
c.297A>T (p.Arg99Ser)
n.3623A>T
12g.40299143C>ACA6513891LRRK2c.3382C>A (p.Leu1128Met)
c.*2291C>A (n.*2291C>A)
c.3127C>A (p.Leu1043Met)
c.426C>A
n.63C>A
c.2179C>A (p.Leu727Met)
c.298C>A (p.Leu100Met)
n.3624C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.40299143C=CA2030983900LRRK2c.3382C= (p.Leu1128=)
c.*2291C= (n.*2291C=)
c.3127C= (p.Leu1043=)
c.426C=
n.63C=
c.2179C= (p.Leu727=)
c.298C= (p.Leu100=)
n.3624C=
12g.40299143C>GCA384415560LRRK2c.3382C>G (p.Leu1128Val)
c.*2291C>G (n.*2291C>G)
c.3127C>G (p.Leu1043Val)
c.426C>G
n.63C>G
c.2179C>G (p.Leu727Val)
c.298C>G (p.Leu100Val)
n.3624C>G
12g.40299143C>TCA479251119LRRK2c.3382C>T (p.Leu1128=)
c.*2291C>T (n.*2291C>T)
c.3127C>T (p.Leu1043=)
c.426C>T
n.63C>T
c.2179C>T (p.Leu727=)
c.298C>T (p.Leu100=)
n.3624C>T
 gnomAD v4
12g.40299144T>ACA384415564LRRK2c.3383T>A (p.Leu1128Gln)
c.*2292T>A (n.*2292T>A)
c.3128T>A (p.Leu1043Gln)
c.427T>A
n.64T>A
c.2180T>A (p.Leu727Gln)
c.299T>A (p.Leu100Gln)
n.3625T>A
12g.40299144T>CCA384415566LRRK2c.3383T>C (p.Leu1128Pro)
c.*2292T>C (n.*2292T>C)
c.3128T>C (p.Leu1043Pro)
c.427T>C
n.64T>C
c.2180T>C (p.Leu727Pro)
c.299T>C (p.Leu100Pro)
n.3625T>C
12g.40299144T>GCA384415567LRRK2c.3383T>G (p.Leu1128Arg)
c.*2292T>G (n.*2292T>G)
c.3128T>G (p.Leu1043Arg)
c.427T>G
n.64T>G
c.2180T>G (p.Leu727Arg)
c.299T>G (p.Leu100Arg)
n.3625T>G
12g.40299145G>ACA479251124LRRK2c.3384G>A (p.Leu1128=)
c.*2293G>A (n.*2293G>A)
c.3129G>A (p.Leu1043=)
c.428G>A
n.65G>A
c.2181G>A (p.Leu727=)
c.300G>A (p.Leu100=)
n.3626G>A
12g.40299145G>CCA479251126LRRK2c.3384G>C (p.Leu1128=)
c.*2293G>C (n.*2293G>C)
c.3129G>C (p.Leu1043=)
c.428G>C
n.65G>C
c.2181G>C (p.Leu727=)
c.300G>C (p.Leu100=)
n.3626G>C
12g.40299145G>TCA479251127LRRK2c.3384G>T (p.Leu1128=)
c.*2293G>T (n.*2293G>T)
c.3129G>T (p.Leu1043=)
c.428G>T
n.65G>T
c.2181G>T (p.Leu727=)
c.300G>T (p.Leu100=)
n.3626G>T
12g.40299146A>CCA384415568LRRK2c.3385A>C (p.Lys1129Gln)
c.*2294A>C (n.*2294A>C)
c.3130A>C (p.Lys1044Gln)
c.429A>C
n.66A>C
c.2182A>C (p.Lys728Gln)
c.301A>C (p.Lys101Gln)
n.3627A>C
12g.40299146A>GCA384415570LRRK2c.3385A>G (p.Lys1129Glu)
c.*2294A>G (n.*2294A>G)
c.3130A>G (p.Lys1044Glu)
c.429A>G
n.66A>G
c.2182A>G (p.Lys728Glu)
c.301A>G (p.Lys101Glu)
n.3627A>G
12g.40299146A>TCA384415571LRRK2c.3385A>T (p.Lys1129Ter)
c.*2294A>T (n.*2294A>T)
c.3130A>T (p.Lys1044Ter)
c.429A>T
n.66A>T
c.2182A>T (p.Lys728Ter)
c.301A>T (p.Lys101Ter)
n.3627A>T
12g.40299147A>CCA384415575LRRK2c.3386A>C (p.Lys1129Thr)
c.*2295A>C (n.*2295A>C)
c.3131A>C (p.Lys1044Thr)
c.430A>C
n.67A>C
c.2183A>C (p.Lys728Thr)
c.302A>C (p.Lys101Thr)
n.3628A>C
12g.40299147A>GCA384415577LRRK2c.3386A>G (p.Lys1129Arg)
c.*2295A>G (n.*2295A>G)
c.3131A>G (p.Lys1044Arg)
c.430A>G
n.67A>G
c.2183A>G (p.Lys728Arg)
c.302A>G (p.Lys101Arg)
n.3628A>G
12g.40299147A>TCA384415573LRRK2c.3386A>T (p.Lys1129Met)
c.*2295A>T (n.*2295A>T)
c.3131A>T (p.Lys1044Met)
c.430A>T
n.67A>T
c.2183A>T (p.Lys728Met)
c.302A>T (p.Lys101Met)
n.3628A>T
12g.40299148G>ACA479251137LRRK2c.3387G>A (p.Lys1129=)
c.*2296G>A (n.*2296G>A)
c.3132G>A (p.Lys1044=)
c.431G>A
n.68G>A
c.2184G>A (p.Lys728=)
c.303G>A (p.Lys101=)
n.3629G>A

Number of alleles fetched