| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.40299122G>A | CA384415488 | LRRK2 | c.3361G>A (p.Gly1121Arg) c.*2270G>A (n.*2270G>A) c.3106G>A (p.Gly1036Arg) c.405G>A n.42G>A c.2158G>A (p.Gly720Arg) c.277G>A (p.Gly93Arg) n.3603G>A | ClinVar |
| 12 | g.40299122G>C | CA384415490 | LRRK2 | c.3361G>C (p.Gly1121Arg) c.*2270G>C (n.*2270G>C) c.3106G>C (p.Gly1036Arg) c.405G>C n.42G>C c.2158G>C (p.Gly720Arg) c.277G>C (p.Gly93Arg) n.3603G>C | dbSNP |
| 12 | g.40299122G>T | CA384415492 | LRRK2 | c.3361G>T (p.Gly1121Trp) c.*2270G>T (n.*2270G>T) c.3106G>T (p.Gly1036Trp) c.405G>T n.42G>T c.2158G>T (p.Gly720Trp) c.277G>T (p.Gly93Trp) n.3603G>T | |
| 12 | g.40299123G>A | CA235349385 | LRRK2 | c.3362G>A (p.Gly1121Glu) c.*2271G>A (n.*2271G>A) c.3107G>A (p.Gly1036Glu) c.406G>A n.43G>A c.2159G>A (p.Gly720Glu) c.278G>A (p.Gly93Glu) n.3604G>A | dbSNP |
| 12 | g.40299123G>C | CA384415493 | LRRK2 | c.3362G>C (p.Gly1121Ala) c.*2271G>C (n.*2271G>C) c.3107G>C (p.Gly1036Ala) c.406G>C n.43G>C c.2159G>C (p.Gly720Ala) c.278G>C (p.Gly93Ala) n.3604G>C | ClinVar |
| 12 | g.40299123G= | CA2030983857 | LRRK2 | c.3362G= (p.Gly1121=) c.*2271G= (n.*2271G=) c.3107G= (p.Gly1036=) c.406G= n.43G= c.2159G= (p.Gly720=) c.278G= (p.Gly93=) n.3604G= | |
| 12 | g.40299123G>T | CA384415494 | LRRK2 | c.3362G>T (p.Gly1121Val) c.*2271G>T (n.*2271G>T) c.3107G>T (p.Gly1036Val) c.406G>T n.43G>T c.2159G>T (p.Gly720Val) c.278G>T (p.Gly93Val) n.3604G>T | gnomAD v4 |
| 12 | g.40299124G>A | CA6513888 | LRRK2 | c.3363G>A (p.Gly1121=) c.*2272G>A (n.*2272G>A) c.3108G>A (p.Gly1036=) c.407G>A n.44G>A c.2160G>A (p.Gly720=) c.279G>A (p.Gly93=) n.3605G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.40299124G>C | CA479251048 | LRRK2 | c.3363G>C (p.Gly1121=) c.*2272G>C (n.*2272G>C) c.3108G>C (p.Gly1036=) c.407G>C n.44G>C c.2160G>C (p.Gly720=) c.279G>C (p.Gly93=) n.3605G>C | |
| 12 | g.40299124G= | CA2030983862 | LRRK2 | c.3363G= (p.Gly1121=) c.*2272G= (n.*2272G=) c.3108G= (p.Gly1036=) c.407G= n.44G= c.2160G= (p.Gly720=) c.279G= (p.Gly93=) n.3605G= | |
| 12 | g.40299124G>T | CA479251050 | LRRK2 | c.3363G>T (p.Gly1121=) c.*2272G>T (n.*2272G>T) c.3108G>T (p.Gly1036=) c.407G>T n.44G>T c.2160G>T (p.Gly720=) c.279G>T (p.Gly93=) n.3605G>T | |
| 12 | g.40299125A= | CA2030983872 | LRRK2 | c.3364A= (p.Ile1122=) c.*2273A= (n.*2273A=) c.3109A= (p.Ile1037=) c.408A= n.45A= c.2161A= (p.Ile721=) c.280A= (p.Ile94=) n.3606A= | |
| 12 | g.40299125A>C | CA384415496 | LRRK2 | c.3364A>C (p.Ile1122Leu) c.*2273A>C (n.*2273A>C) c.3109A>C (p.Ile1037Leu) c.408A>C n.45A>C c.2161A>C (p.Ile721Leu) c.280A>C (p.Ile94Leu) n.3606A>C | |
| 12 | g.40299125A>G | CA339924 | LRRK2 | c.3364A>G (p.Ile1122Val) c.*2273A>G (n.*2273A>G) c.3109A>G (p.Ile1037Val) c.408A>G n.45A>G c.2161A>G (p.Ile721Val) c.280A>G (p.Ile94Val) n.3606A>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.40299125A>T | CA384415498 | LRRK2 | c.3364A>T (p.Ile1122Leu) c.*2273A>T (n.*2273A>T) c.3109A>T (p.Ile1037Leu) c.408A>T n.45A>T c.2161A>T (p.Ile721Leu) c.280A>T (p.Ile94Leu) n.3606A>T | |
| 12 | g.40299126T>A | CA384415503 | LRRK2 | c.3365T>A (p.Ile1122Lys) c.*2274T>A (n.*2274T>A) c.3110T>A (p.Ile1037Lys) c.409T>A n.46T>A c.2162T>A (p.Ile721Lys) c.281T>A (p.Ile94Lys) n.3607T>A | |
| 12 | g.40299126T>C | CA384415502 | LRRK2 | c.3365T>C (p.Ile1122Thr) c.*2274T>C (n.*2274T>C) c.3110T>C (p.Ile1037Thr) c.409T>C n.46T>C c.2162T>C (p.Ile721Thr) c.281T>C (p.Ile94Thr) n.3607T>C | |
| 12 | g.40299126T>G | CA384415500 | LRRK2 | c.3365T>G (p.Ile1122Arg) c.*2274T>G (n.*2274T>G) c.3110T>G (p.Ile1037Arg) c.409T>G n.46T>G c.2162T>G (p.Ile721Arg) c.281T>G (p.Ile94Arg) n.3607T>G | |
| 12 | g.40299127A>C | CA479251059 | LRRK2 | c.3366A>C (p.Ile1122=) c.*2275A>C (n.*2275A>C) c.3111A>C (p.Ile1037=) c.410A>C n.47A>C c.2163A>C (p.Ile721=) c.282A>C (p.Ile94=) n.3608A>C | |
| 12 | g.40299127A>G | CA384415505 | LRRK2 | c.3366A>G (p.Ile1122Met) c.*2275A>G (n.*2275A>G) c.3111A>G (p.Ile1037Met) c.410A>G n.47A>G c.2163A>G (p.Ile721Met) c.282A>G (p.Ile94Met) n.3608A>G | |
| 12 | g.40299127A>T | CA479251062 | LRRK2 | c.3366A>T (p.Ile1122=) c.*2275A>T (n.*2275A>T) c.3111A>T (p.Ile1037=) c.410A>T n.47A>T c.2163A>T (p.Ile721=) c.282A>T (p.Ile94=) n.3608A>T | |
| 12 | g.40299128T>A | CA384415506 | LRRK2 | c.3367T>A (p.Cys1123Ser) c.*2276T>A (n.*2276T>A) c.3112T>A (p.Cys1038Ser) c.411T>A n.48T>A c.2164T>A (p.Cys722Ser) c.283T>A (p.Cys95Ser) n.3609T>A | ClinVar |
| 12 | g.40299128T>C | CA384415508 | LRRK2 | c.3367T>C (p.Cys1123Arg) c.*2276T>C (n.*2276T>C) c.3112T>C (p.Cys1038Arg) c.411T>C n.48T>C c.2164T>C (p.Cys722Arg) c.283T>C (p.Cys95Arg) n.3609T>C | |
| 12 | g.40299128T>G | CA384415509 | LRRK2 | c.3367T>G (p.Cys1123Gly) c.*2276T>G (n.*2276T>G) c.3112T>G (p.Cys1038Gly) c.411T>G n.48T>G c.2164T>G (p.Cys722Gly) c.283T>G (p.Cys95Gly) n.3609T>G | |
| 12 | g.40299129G>A | CA384415511 | LRRK2 | c.3368G>A (p.Cys1123Tyr) c.*2277G>A (n.*2277G>A) c.3113G>A (p.Cys1038Tyr) c.412G>A n.49G>A c.2165G>A (p.Cys722Tyr) c.284G>A (p.Cys95Tyr) n.3610G>A | |
| 12 | g.40299129G>C | CA384415512 | LRRK2 | c.3368G>C (p.Cys1123Ser) c.*2277G>C (n.*2277G>C) c.3113G>C (p.Cys1038Ser) c.412G>C n.49G>C c.2165G>C (p.Cys722Ser) c.284G>C (p.Cys95Ser) n.3610G>C | |
| 12 | g.40299129G>T | CA384415514 | LRRK2 | c.3368G>T (p.Cys1123Phe) c.*2277G>T (n.*2277G>T) c.3113G>T (p.Cys1038Phe) c.412G>T n.49G>T c.2165G>T (p.Cys722Phe) c.284G>T (p.Cys95Phe) n.3610G>T | ClinVar dbSNP |
| 12 | g.40299130C>A | CA384415515 | LRRK2 | c.3369C>A (p.Cys1123Ter) c.*2278C>A (n.*2278C>A) c.3114C>A (p.Cys1038Ter) c.413C>A n.50C>A c.2166C>A (p.Cys722Ter) c.285C>A (p.Cys95Ter) n.3611C>A | |
| 12 | g.40299130C= | CA2030983877 | LRRK2 | c.3369C= (p.Cys1123=) c.*2278C= (n.*2278C=) c.3114C= (p.Cys1038=) c.413C= n.50C= c.2166C= (p.Cys722=) c.285C= (p.Cys95=) n.3611C= | |
| 12 | g.40299130C>G | CA384415517 | LRRK2 | c.3369C>G (p.Cys1123Trp) c.*2278C>G (n.*2278C>G) c.3114C>G (p.Cys1038Trp) c.413C>G n.50C>G c.2166C>G (p.Cys722Trp) c.285C>G (p.Cys95Trp) n.3611C>G | |
| 12 | g.40299130C>T | CA479251071 | LRRK2 | c.3369C>T (p.Cys1123=) c.*2278C>T (n.*2278C>T) c.3114C>T (p.Cys1038=) c.413C>T n.50C>T c.2166C>T (p.Cys722=) c.285C>T (p.Cys95=) n.3611C>T | dbSNP gnomAD v4 |
| 12 | g.40299131T>A | CA384415518 | LRRK2 | c.3370T>A (p.Ser1124Thr) c.*2279T>A (n.*2279T>A) c.3115T>A (p.Ser1039Thr) c.414T>A n.51T>A c.2167T>A (p.Ser723Thr) c.286T>A (p.Ser96Thr) n.3612T>A | gnomAD v4 |
| 12 | g.40299131T>C | CA384415520 | LRRK2 | c.3370T>C (p.Ser1124Pro) c.*2279T>C (n.*2279T>C) c.3115T>C (p.Ser1039Pro) c.414T>C n.51T>C c.2167T>C (p.Ser723Pro) c.286T>C (p.Ser96Pro) n.3612T>C | |
| 12 | g.40299131T>G | CA384415522 | LRRK2 | c.3370T>G (p.Ser1124Ala) c.*2279T>G (n.*2279T>G) c.3115T>G (p.Ser1039Ala) c.414T>G n.51T>G c.2167T>G (p.Ser723Ala) c.286T>G (p.Ser96Ala) n.3612T>G | |
| 12 | g.40299132C>A | CA384415526 | LRRK2 | c.3371C>A (p.Ser1124Tyr) c.*2280C>A (n.*2280C>A) c.3116C>A (p.Ser1039Tyr) c.415C>A n.52C>A c.2168C>A (p.Ser723Tyr) c.287C>A (p.Ser96Tyr) n.3613C>A | ClinVar |
| 12 | g.40299132C= | CA2030983882 | LRRK2 | c.3371C= (p.Ser1124=) c.*2280C= (n.*2280C=) c.3116C= (p.Ser1039=) c.415C= n.52C= c.2168C= (p.Ser723=) c.287C= (p.Ser96=) n.3613C= | |
| 12 | g.40299132C>G | CA384415525 | LRRK2 | c.3371C>G (p.Ser1124Cys) c.*2280C>G (n.*2280C>G) c.3116C>G (p.Ser1039Cys) c.415C>G n.52C>G c.2168C>G (p.Ser723Cys) c.287C>G (p.Ser96Cys) n.3613C>G | gnomAD v4 |
| 12 | g.40299132C>T | CA384415523 | LRRK2 | c.3371C>T (p.Ser1124Phe) c.*2280C>T (n.*2280C>T) c.3116C>T (p.Ser1039Phe) c.415C>T n.52C>T c.2168C>T (p.Ser723Phe) c.287C>T (p.Ser96Phe) n.3613C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.40299133C>A | CA6513889 | LRRK2 | c.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 |
| 12 | g.40299133C= | CA2030983886 | LRRK2 | c.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= | |
| 12 | g.40299133C>G | CA479251081 | LRRK2 | c.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 | |
| 12 | g.40299133C>T | CA479251083 | LRRK2 | c.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 |
| 12 | g.40299134C>A | CA384415528 | LRRK2 | c.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 |
| 12 | g.40299134C= | CA2030983890 | LRRK2 | c.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= | |
| 12 | g.40299134C>G | CA384415530 | LRRK2 | c.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 |
| 12 | g.40299134C>T | CA384415532 | LRRK2 | c.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 | |
| 12 | g.40299135C>A | CA384415534 | LRRK2 | c.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 | |
| 12 | g.40299135C= | CA2030983895 | LRRK2 | c.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= | |
| 12 | g.40299135C>G | CA6513890 | LRRK2 | c.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 |
| 12 | g.40299135C>T | CA384415536 | LRRK2 | c.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 |
| 12 | g.40299136C>A | CA479251098 | LRRK2 | c.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 |
| 12 | g.40299136C>G | CA479251099 | LRRK2 | c.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 |
| 12 | g.40299136C>T | CA479251101 | LRRK2 | c.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 |
| 12 | g.40299137T>A | CA384415538 | LRRK2 | c.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 | |
| 12 | g.40299137T>C | CA479251105 | LRRK2 | c.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 |
| 12 | g.40299137T>G | CA384415539 | LRRK2 | c.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 | |
| 12 | g.40299138T>A | CA384415541 | LRRK2 | c.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 | |
| 12 | g.40299138T>C | CA384415543 | LRRK2 | c.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 | |
| 12 | g.40299138T>G | CA384415545 | LRRK2 | c.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 | |
| 12 | g.40299139G>A | CA479251111 | LRRK2 | c.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 |
| 12 | g.40299139G>C | CA384415546 | LRRK2 | c.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 | |
| 12 | g.40299139G>T | CA384415548 | LRRK2 | c.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 |
| 12 | g.40299140A>C | CA479251116 | LRRK2 | c.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 | |
| 12 | g.40299140A>G | CA384415551 | LRRK2 | c.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 | |
| 12 | g.40299140A>T | CA384415550 | LRRK2 | c.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 | |
| 12 | g.40299141G>A | CA384415553 | LRRK2 | c.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 | |
| 12 | g.40299141G>C | CA384415554 | LRRK2 | c.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 | |
| 12 | g.40299141G>T | CA384415555 | LRRK2 | c.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 | |
| 12 | g.40299142A>C | CA384415557 | LRRK2 | c.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 | |
| 12 | g.40299142A>G | CA479251117 | LRRK2 | c.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 | |
| 12 | g.40299142A>T | CA384415559 | LRRK2 | c.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 | |
| 12 | g.40299143C>A | CA6513891 | LRRK2 | c.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 |
| 12 | g.40299143C= | CA2030983900 | LRRK2 | c.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= | |
| 12 | g.40299143C>G | CA384415560 | LRRK2 | c.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 | |
| 12 | g.40299143C>T | CA479251119 | LRRK2 | c.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 |
| 12 | g.40299144T>A | CA384415564 | LRRK2 | c.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 | |
| 12 | g.40299144T>C | CA384415566 | LRRK2 | c.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 | |
| 12 | g.40299144T>G | CA384415567 | LRRK2 | c.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 | |
| 12 | g.40299145G>A | CA479251124 | LRRK2 | c.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 | |
| 12 | g.40299145G>C | CA479251126 | LRRK2 | c.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 | |
| 12 | g.40299145G>T | CA479251127 | LRRK2 | c.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 | |
| 12 | g.40299146A>C | CA384415568 | LRRK2 | c.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 | |
| 12 | g.40299146A>G | CA384415570 | LRRK2 | c.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 | |
| 12 | g.40299146A>T | CA384415571 | LRRK2 | c.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 | |
| 12 | g.40299147A>C | CA384415575 | LRRK2 | c.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 | |
| 12 | g.40299147A>G | CA384415577 | LRRK2 | c.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 | |
| 12 | g.40299147A>T | CA384415573 | LRRK2 | c.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 | |
| 12 | g.40299148G>A | CA479251137 | LRRK2 | c.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 | |
| 12 | g.40299148G>C | CA384415578 | LRRK2 | c.3387G>C (p.Lys1129Asn) c.*2296G>C (n.*2296G>C) c.3132G>C (p.Lys1044Asn) c.431G>C n.68G>C c.2184G>C (p.Lys728Asn) c.303G>C (p.Lys101Asn) n.3629G>C | |
| 12 | g.40299148G>T | CA384415579 | LRRK2 | c.3387G>T (p.Lys1129Asn) c.*2296G>T (n.*2296G>T) c.3132G>T (p.Lys1044Asn) c.431G>T n.68G>T c.2184G>T (p.Lys728Asn) c.303G>T (p.Lys101Asn) n.3629G>T | |
| 12 | g.40299149G>A | CA384415585 | LRRK2 | c.3388G>A (p.Glu1130Lys) c.*2297G>A (n.*2297G>A) c.3133G>A (p.Glu1045Lys) c.432G>A n.69G>A c.2185G>A (p.Glu729Lys) c.304G>A (p.Glu102Lys) n.3630G>A | |
| 12 | g.40299149G>C | CA384415586 | LRRK2 | c.3388G>C (p.Glu1130Gln) c.*2297G>C (n.*2297G>C) c.3133G>C (p.Glu1045Gln) c.432G>C n.69G>C c.2185G>C (p.Glu729Gln) c.304G>C (p.Glu102Gln) n.3630G>C | |
| 12 | g.40299149G= | CA2030983906 | LRRK2 | c.3388G= (p.Glu1130=) c.*2297G= (n.*2297G=) c.3133G= (p.Glu1045=) c.432G= n.69G= c.2185G= (p.Glu729=) c.304G= (p.Glu102=) n.3630G= | |
| 12 | g.40299149G>T | CA384415590 | LRRK2 | c.3388G>T (p.Glu1130Ter) c.*2297G>T (n.*2297G>T) c.3133G>T (p.Glu1045Ter) c.432G>T n.69G>T c.2185G>T (p.Glu729Ter) c.304G>T (p.Glu102Ter) n.3630G>T | dbSNP gnomAD v4 |
| 12 | g.40299150A= | CA2030983911 | LRRK2 | c.3389A= (p.Glu1130=) c.*2298A= (n.*2298A=) c.3134A= (p.Glu1045=) c.433A= n.70A= c.2186A= (p.Glu729=) c.305A= (p.Glu102=) n.3631A= | |
| 12 | g.40299150A>C | CA384415593 | LRRK2 | c.3389A>C (p.Glu1130Ala) c.*2298A>C (n.*2298A>C) c.3134A>C (p.Glu1045Ala) c.433A>C n.70A>C c.2186A>C (p.Glu729Ala) c.305A>C (p.Glu102Ala) n.3631A>C | dbSNP |
| 12 | g.40299150A>G | CA384415595 | LRRK2 | c.3389A>G (p.Glu1130Gly) c.*2298A>G (n.*2298A>G) c.3134A>G (p.Glu1045Gly) c.433A>G n.70A>G c.2186A>G (p.Glu729Gly) c.305A>G (p.Glu102Gly) n.3631A>G | |
| 12 | g.40299150A>T | CA384415596 | LRRK2 | c.3389A>T (p.Glu1130Val) c.*2298A>T (n.*2298A>T) c.3134A>T (p.Glu1045Val) c.433A>T n.70A>T c.2186A>T (p.Glu729Val) c.305A>T (p.Glu102Val) n.3631A>T | ClinVar |
| 12 | g.40299151A>C | CA384415597 | LRRK2 | c.3390A>C (p.Glu1130Asp) c.*2299A>C (n.*2299A>C) c.3135A>C (p.Glu1045Asp) c.434A>C n.71A>C c.2187A>C (p.Glu729Asp) c.306A>C (p.Glu102Asp) n.3632A>C | |
| 12 | g.40299151A>G | CA479251151 | LRRK2 | c.3390A>G (p.Glu1130=) c.*2299A>G (n.*2299A>G) c.3135A>G (p.Glu1045=) c.434A>G n.71A>G c.2187A>G (p.Glu729=) c.306A>G (p.Glu102=) n.3632A>G | ClinVar gnomAD v4 |
| 12 | g.40299151A>T | CA384415598 | LRRK2 | c.3390A>T (p.Glu1130Asp) c.*2299A>T (n.*2299A>T) c.3135A>T (p.Glu1045Asp) c.434A>T n.71A>T c.2187A>T (p.Glu729Asp) c.306A>T (p.Glu102Asp) n.3632A>T | |
| 12 | g.40299152C>A | CA384415599 | LRRK2 | c.3391C>A (p.Leu1131Met) c.*2300C>A (n.*2300C>A) c.3136C>A (p.Leu1046Met) c.435C>A n.72C>A c.2188C>A (p.Leu730Met) c.307C>A (p.Leu103Met) n.3633C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40299152C= | CA2030983915 | LRRK2 | c.3391C= (p.Leu1131=) c.*2300C= (n.*2300C=) c.3136C= (p.Leu1046=) c.435C= n.72C= c.2188C= (p.Leu730=) c.307C= (p.Leu103=) n.3633C= | |
| 12 | g.40299152C>G | CA384415600 | LRRK2 | c.3391C>G (p.Leu1131Val) c.*2300C>G (n.*2300C>G) c.3136C>G (p.Leu1046Val) c.435C>G n.72C>G c.2188C>G (p.Leu730Val) c.307C>G (p.Leu103Val) n.3633C>G | |
| 12 | g.40299152C>T | CA479251155 | LRRK2 | c.3391C>T (p.Leu1131=) c.*2300C>T (n.*2300C>T) c.3136C>T (p.Leu1046=) c.435C>T n.72C>T c.2188C>T (p.Leu730=) c.307C>T (p.Leu103=) n.3633C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40299153T>A | CA384415603 | LRRK2 | c.3392T>A (p.Leu1131Gln) c.*2301T>A (n.*2301T>A) c.3137T>A (p.Leu1046Gln) c.436T>A n.73T>A c.2189T>A (p.Leu730Gln) c.308T>A (p.Leu103Gln) n.3634T>A | ClinVar |
| 12 | g.40299153T>C | CA384415602 | LRRK2 | c.3392T>C (p.Leu1131Pro) c.*2301T>C (n.*2301T>C) c.3137T>C (p.Leu1046Pro) c.436T>C n.73T>C c.2189T>C (p.Leu730Pro) c.308T>C (p.Leu103Pro) n.3634T>C | |
| 12 | g.40299153T>G | CA384415601 | LRRK2 | c.3392T>G (p.Leu1131Arg) c.*2301T>G (n.*2301T>G) c.3137T>G (p.Leu1046Arg) c.436T>G n.73T>G c.2189T>G (p.Leu730Arg) c.308T>G (p.Leu103Arg) n.3634T>G | |
| 12 | g.40299154G>A | CA6513892 | LRRK2 | c.3393G>A (p.Leu1131=) c.*2302G>A (n.*2302G>A) c.3138G>A (p.Leu1046=) c.437G>A n.74G>A c.2190G>A (p.Leu730=) c.309G>A (p.Leu103=) n.3635G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.40299154G>C | CA479251163 | LRRK2 | c.3393G>C (p.Leu1131=) c.*2302G>C (n.*2302G>C) c.3138G>C (p.Leu1046=) c.437G>C n.74G>C c.2190G>C (p.Leu730=) c.309G>C (p.Leu103=) n.3635G>C | |
| 12 | g.40299154G= | CA2030983921 | LRRK2 | c.3393G= (p.Leu1131=) c.*2302G= (n.*2302G=) c.3138G= (p.Leu1046=) c.437G= n.74G= c.2190G= (p.Leu730=) c.309G= (p.Leu103=) n.3635G= | |
| 12 | g.40299154G>T | CA479251160 | LRRK2 | c.3393G>T (p.Leu1131=) c.*2302G>T (n.*2302G>T) c.3138G>T (p.Leu1046=) c.437G>T n.74G>T c.2190G>T (p.Leu730=) c.309G>T (p.Leu103=) n.3635G>T | |
| 12 | g.40299155A= | CA2030983925 | LRRK2 | c.3394A= (p.Lys1132=) c.*2303A= (n.*2303A=) c.3139A= (p.Lys1047=) c.438A= n.75A= c.2191A= (p.Lys731=) c.310A= (p.Lys104=) n.3636A= | |
| 12 | g.40299155A>C | CA384415604 | LRRK2 | c.3394A>C (p.Lys1132Gln) c.*2303A>C (n.*2303A>C) c.3139A>C (p.Lys1047Gln) c.438A>C n.75A>C c.2191A>C (p.Lys731Gln) c.310A>C (p.Lys104Gln) n.3636A>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.40299155A>G | CA384415605 | LRRK2 | c.3394A>G (p.Lys1132Glu) c.*2303A>G (n.*2303A>G) c.3139A>G (p.Lys1047Glu) c.438A>G n.75A>G c.2191A>G (p.Lys731Glu) c.310A>G (p.Lys104Glu) n.3636A>G | ClinVar gnomAD v4 |
| 12 | g.40299155A>T | CA384415606 | LRRK2 | c.3394A>T (p.Lys1132Ter) c.*2303A>T (n.*2303A>T) c.3139A>T (p.Lys1047Ter) c.438A>T n.75A>T c.2191A>T (p.Lys731Ter) c.310A>T (p.Lys104Ter) n.3636A>T | |
| 12 | g.40299156A>C | CA384415607 | LRRK2 | c.3395A>C (p.Lys1132Thr) c.*2304A>C (n.*2304A>C) c.3140A>C (p.Lys1047Thr) c.439A>C n.76A>C c.2192A>C (p.Lys731Thr) c.311A>C (p.Lys104Thr) n.3637A>C | |
| 12 | g.40299156A>G | CA384415608 | LRRK2 | c.3395A>G (p.Lys1132Arg) c.*2304A>G (n.*2304A>G) c.3140A>G (p.Lys1047Arg) c.439A>G n.76A>G c.2192A>G (p.Lys731Arg) c.311A>G (p.Lys104Arg) n.3637A>G | ClinVar gnomAD v4 |
| 12 | g.40299156A>T | CA384415609 | LRRK2 | c.3395A>T (p.Lys1132Met) c.*2304A>T (n.*2304A>T) c.3140A>T (p.Lys1047Met) c.439A>T n.76A>T c.2192A>T (p.Lys731Met) c.311A>T (p.Lys104Met) n.3637A>T | |
| 12 | g.40299157G>A | CA479251177 | LRRK2 | c.3396G>A (p.Lys1132=) c.*2305G>A (n.*2305G>A) c.3141G>A (p.Lys1047=) c.440G>A n.77G>A c.2193G>A (p.Lys731=) c.312G>A (p.Lys104=) n.3638G>A | dbSNP COSMIC COSMIC |
| 12 | g.40299157G>C | CA384415610 | LRRK2 | c.3396G>C (p.Lys1132Asn) c.*2305G>C (n.*2305G>C) c.3141G>C (p.Lys1047Asn) c.440G>C n.77G>C c.2193G>C (p.Lys731Asn) c.312G>C (p.Lys104Asn) n.3638G>C | |
| 12 | g.40299157G= | CA2030983929 | LRRK2 | c.3396G= (p.Lys1132=) c.*2305G= (n.*2305G=) c.3141G= (p.Lys1047=) c.440G= n.77G= c.2193G= (p.Lys731=) c.312G= (p.Lys104=) n.3638G= | |
| 12 | g.40299157G>T | CA384415611 | LRRK2 | c.3396G>T (p.Lys1132Asn) c.*2305G>T (n.*2305G>T) c.3141G>T (p.Lys1047Asn) c.440G>T n.77G>T c.2193G>T (p.Lys731Asn) c.312G>T (p.Lys104Asn) n.3638G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40299158A= | CA2030983933 | LRRK2 | c.3397A= (p.Ile1133=) c.*2306A= (n.*2306A=) c.3142A= (p.Ile1048=) c.441A= n.78A= c.2194A= (p.Ile732=) c.313A= (p.Ile105=) n.3639A= | |
| 12 | g.40299158A>C | CA384415612 | LRRK2 | c.3397A>C (p.Ile1133Leu) c.*2306A>C (n.*2306A>C) c.3142A>C (p.Ile1048Leu) c.441A>C n.78A>C c.2194A>C (p.Ile732Leu) c.313A>C (p.Ile105Leu) n.3639A>C | |
| 12 | g.40299158A>G | CA6513893 | LRRK2 | c.3397A>G (p.Ile1133Val) c.*2306A>G (n.*2306A>G) c.3142A>G (p.Ile1048Val) c.441A>G n.78A>G c.2194A>G (p.Ile732Val) c.313A>G (p.Ile105Val) n.3639A>G | dbSNP ExAC gnomAD v2 |
| 12 | g.40299158A>T | CA384415613 | LRRK2 | c.3397A>T (p.Ile1133Phe) c.*2306A>T (n.*2306A>T) c.3142A>T (p.Ile1048Phe) c.441A>T n.78A>T c.2194A>T (p.Ile732Phe) c.313A>T (p.Ile105Phe) n.3639A>T | COSMIC |
| 12 | g.40299159T>A | CA384415617 | LRRK2 | c.3398T>A (p.Ile1133Asn) c.*2307T>A (n.*2307T>A) c.3143T>A (p.Ile1048Asn) c.442T>A n.79T>A c.2195T>A (p.Ile732Asn) c.314T>A (p.Ile105Asn) n.3640T>A | |
| 12 | g.40299159T>C | CA384415619 | LRRK2 | c.3398T>C (p.Ile1133Thr) c.*2307T>C (n.*2307T>C) c.3143T>C (p.Ile1048Thr) c.442T>C n.79T>C c.2195T>C (p.Ile732Thr) c.314T>C (p.Ile105Thr) n.3640T>C | ClinVar |
| 12 | g.40299159T>G | CA384415615 | LRRK2 | c.3398T>G (p.Ile1133Ser) c.*2307T>G (n.*2307T>G) c.3143T>G (p.Ile1048Ser) c.442T>G n.79T>G c.2195T>G (p.Ile732Ser) c.314T>G (p.Ile105Ser) n.3640T>G | |
| 12 | g.40299160T>A | CA479251186 | LRRK2 | c.3399T>A (p.Ile1133=) c.*2308T>A (n.*2308T>A) c.3144T>A (p.Ile1048=) c.443T>A n.80T>A c.2196T>A (p.Ile732=) c.315T>A (p.Ile105=) n.3641T>A | |
| 12 | g.40299160T>C | CA479251187 | LRRK2 | c.3399T>C (p.Ile1133=) c.*2308T>C (n.*2308T>C) c.3144T>C (p.Ile1048=) c.443T>C n.80T>C c.2196T>C (p.Ile732=) c.315T>C (p.Ile105=) n.3641T>C | |
| 12 | g.40299160T>G | CA384415625 | LRRK2 | c.3399T>G (p.Ile1133Met) c.*2308T>G (n.*2308T>G) c.3144T>G (p.Ile1048Met) c.443T>G n.80T>G c.2196T>G (p.Ile732Met) c.315T>G (p.Ile105Met) n.3641T>G | |
| 12 | g.40299161T>A | CA384415627 | LRRK2 | c.3400T>A (p.Leu1134Ile) c.*2309T>A (n.*2309T>A) c.3145T>A (p.Leu1049Ile) c.444T>A n.81T>A c.2197T>A (p.Leu733Ile) c.316T>A (p.Leu106Ile) n.3642T>A | |
| 12 | g.40299161T>C | CA479251191 | LRRK2 | c.3400T>C (p.Leu1134=) c.*2309T>C (n.*2309T>C) c.3145T>C (p.Leu1049=) c.444T>C n.81T>C c.2197T>C (p.Leu733=) c.316T>C (p.Leu106=) n.3642T>C | |
| 12 | g.40299161T>G | CA384415629 | LRRK2 | c.3400T>G (p.Leu1134Val) c.*2309T>G (n.*2309T>G) c.3145T>G (p.Leu1049Val) c.444T>G n.81T>G c.2197T>G (p.Leu733Val) c.316T>G (p.Leu106Val) n.3642T>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.40299161T= | CA2030983938 | LRRK2 | c.3400T= (p.Leu1134=) c.*2309T= (n.*2309T=) c.3145T= (p.Leu1049=) c.444T= n.81T= c.2197T= (p.Leu733=) c.316T= (p.Leu106=) n.3642T= | |
| 12 | g.40299162T>A | CA384415631 | LRRK2 | c.3401T>A (p.Leu1134Ter) c.*2310T>A (n.*2310T>A) c.3146T>A (p.Leu1049Ter) c.445T>A n.82T>A c.2198T>A (p.Leu733Ter) c.317T>A (p.Leu106Ter) n.3643T>A | |
| 12 | g.40299162T>C | CA384415633 | LRRK2 | c.3401T>C (p.Leu1134Ser) c.*2310T>C (n.*2310T>C) c.3146T>C (p.Leu1049Ser) c.445T>C n.82T>C c.2198T>C (p.Leu733Ser) c.317T>C (p.Leu106Ser) n.3643T>C | |
| 12 | g.40299162T>G | CA384415634 | LRRK2 | c.3401T>G (p.Leu1134Ter) c.*2310T>G (n.*2310T>G) c.3146T>G (p.Leu1049Ter) c.445T>G n.82T>G c.2198T>G (p.Leu733Ter) c.317T>G (p.Leu106Ter) n.3643T>G | |
| 12 | g.40299163A>C | CA384415645 | LRRK2 | c.3402A>C (p.Leu1134Phe) c.*2311A>C (n.*2311A>C) c.3147A>C (p.Leu1049Phe) c.446A>C n.83A>C c.2199A>C (p.Leu733Phe) c.318A>C (p.Leu106Phe) n.3644A>C | |
| 12 | g.40299163A>G | CA479251197 | LRRK2 | c.3402A>G (p.Leu1134=) c.*2311A>G (n.*2311A>G) c.3147A>G (p.Leu1049=) c.446A>G n.83A>G c.2199A>G (p.Leu733=) c.318A>G (p.Leu106=) n.3644A>G | |
| 12 | g.40299163A>T | CA384415637 | LRRK2 | c.3402A>T (p.Leu1134Phe) c.*2311A>T (n.*2311A>T) c.3147A>T (p.Leu1049Phe) c.446A>T n.83A>T c.2199A>T (p.Leu733Phe) c.318A>T (p.Leu106Phe) n.3644A>T | |
| 12 | g.40299164A>C | CA384415647 | LRRK2 | c.3403A>C (p.Asn1135His) c.*2312A>C (n.*2312A>C) c.3148A>C (p.Asn1050His) c.447A>C n.84A>C c.2200A>C (p.Asn734His) c.319A>C (p.Asn107His) n.3645A>C | |
| 12 | g.40299164A>G | CA384415649 | LRRK2 | c.3403A>G (p.Asn1135Asp) c.*2312A>G (n.*2312A>G) c.3148A>G (p.Asn1050Asp) c.447A>G n.84A>G c.2200A>G (p.Asn734Asp) c.319A>G (p.Asn107Asp) n.3645A>G | |
| 12 | g.40299164A>T | CA384415651 | LRRK2 | c.3403A>T (p.Asn1135Tyr) c.*2312A>T (n.*2312A>T) c.3148A>T (p.Asn1050Tyr) c.447A>T n.84A>T c.2200A>T (p.Asn734Tyr) c.319A>T (p.Asn107Tyr) n.3645A>T | gnomAD v4 |
| 12 | g.40299165A>C | CA384415653 | LRRK2 | c.3404A>C (p.Asn1135Thr) c.*2313A>C (n.*2313A>C) c.3149A>C (p.Asn1050Thr) c.448A>C n.85A>C c.2201A>C (p.Asn734Thr) c.320A>C (p.Asn107Thr) n.3646A>C | |
| 12 | g.40299165A>G | CA384415655 | LRRK2 | c.3404A>G (p.Asn1135Ser) c.*2313A>G (n.*2313A>G) c.3149A>G (p.Asn1050Ser) c.448A>G n.85A>G c.2201A>G (p.Asn734Ser) c.320A>G (p.Asn107Ser) n.3646A>G | gnomAD v4 |
| 12 | g.40299165A>T | CA384415662 | LRRK2 | c.3404A>T (p.Asn1135Ile) c.*2313A>T (n.*2313A>T) c.3149A>T (p.Asn1050Ile) c.448A>T n.85A>T c.2201A>T (p.Asn734Ile) c.320A>T (p.Asn107Ile) n.3646A>T | |
| 12 | g.40299166C>A | CA384415664 | LRRK2 | c.3405C>A (p.Asn1135Lys) c.*2314C>A (n.*2314C>A) c.3150C>A (p.Asn1050Lys) c.449C>A n.86C>A c.2202C>A (p.Asn734Lys) c.321C>A (p.Asn107Lys) n.3647C>A | ClinVar |
| 12 | g.40299166C= | CA2030983944 | LRRK2 | c.3405C= (p.Asn1135=) c.*2314C= (n.*2314C=) c.3150C= (p.Asn1050=) c.449C= n.86C= c.2202C= (p.Asn734=) c.321C= (p.Asn107=) n.3647C= | |
| 12 | g.40299166C>G | CA384415667 | LRRK2 | c.3405C>G (p.Asn1135Lys) c.*2314C>G (n.*2314C>G) c.3150C>G (p.Asn1050Lys) c.449C>G n.86C>G c.2202C>G (p.Asn734Lys) c.321C>G (p.Asn107Lys) n.3647C>G | |
| 12 | g.40299166C>T | CA235349392 | LRRK2 | c.3405C>T (p.Asn1135=) c.*2314C>T (n.*2314C>T) c.3150C>T (p.Asn1050=) c.449C>T n.86C>T c.2202C>T (p.Asn734=) c.321C>T (p.Asn107=) n.3647C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.40299167C>A | CA384415669 | LRRK2 | c.3406C>A (p.Leu1136Ile) c.*2315C>A (n.*2315C>A) c.3151C>A (p.Leu1051Ile) c.450C>A n.87C>A c.2203C>A (p.Leu735Ile) c.322C>A (p.Leu108Ile) n.3648C>A | |
| 12 | g.40299167C>G | CA384415670 | LRRK2 | c.3406C>G (p.Leu1136Val) c.*2315C>G (n.*2315C>G) c.3151C>G (p.Leu1051Val) c.450C>G n.87C>G c.2203C>G (p.Leu735Val) c.322C>G (p.Leu108Val) n.3648C>G | |
| 12 | g.40299167C>T | CA384415672 | LRRK2 | c.3406C>T (p.Leu1136Phe) c.*2315C>T (n.*2315C>T) c.3151C>T (p.Leu1051Phe) c.450C>T n.87C>T c.2203C>T (p.Leu735Phe) c.322C>T (p.Leu108Phe) n.3648C>T | |
| 12 | g.40299168T>A | CA384415675 | LRRK2 | c.3407T>A (p.Leu1136His) c.*2316T>A (n.*2316T>A) c.3152T>A (p.Leu1051His) c.451T>A n.88T>A c.2204T>A (p.Leu735His) c.323T>A (p.Leu108His) n.3649T>A | |
| 12 | g.40299168T>C | CA384415679 | LRRK2 | c.3407T>C (p.Leu1136Pro) c.*2316T>C (n.*2316T>C) c.3152T>C (p.Leu1051Pro) c.451T>C n.88T>C c.2204T>C (p.Leu735Pro) c.323T>C (p.Leu108Pro) n.3649T>C | |
| 12 | g.40299168T>G | CA384415681 | LRRK2 | c.3407T>G (p.Leu1136Arg) c.*2316T>G (n.*2316T>G) c.3152T>G (p.Leu1051Arg) c.451T>G n.88T>G c.2204T>G (p.Leu735Arg) c.323T>G (p.Leu108Arg) n.3649T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40299168T= | CA2030983947 | LRRK2 | c.3407T= (p.Leu1136=) c.*2316T= (n.*2316T=) c.3152T= (p.Leu1051=) c.451T= n.88T= c.2204T= (p.Leu735=) c.323T= (p.Leu108=) n.3649T= | |
| 12 | g.40299169T>A | CA479251217 | LRRK2 | c.3408T>A (p.Leu1136=) c.*2317T>A (n.*2317T>A) c.3153T>A (p.Leu1051=) c.452T>A n.89T>A c.2205T>A (p.Leu735=) c.324T>A (p.Leu108=) n.3650T>A | |
| 12 | g.40299169T>C | CA479251219 | LRRK2 | c.3408T>C (p.Leu1136=) c.*2317T>C (n.*2317T>C) c.3153T>C (p.Leu1051=) c.452T>C n.89T>C c.2205T>C (p.Leu735=) c.324T>C (p.Leu108=) n.3650T>C | dbSNP gnomAD v4 |
| 12 | g.40299169T>G | CA479251220 | LRRK2 | c.3408T>G (p.Leu1136=) c.*2317T>G (n.*2317T>G) c.3153T>G (p.Leu1051=) c.452T>G n.89T>G c.2205T>G (p.Leu735=) c.324T>G (p.Leu108=) n.3650T>G | |
| 12 | g.40299169T= | CA2030983952 | LRRK2 | c.3408T= (p.Leu1136=) c.*2317T= (n.*2317T=) c.3153T= (p.Leu1051=) c.452T= n.89T= c.2205T= (p.Leu735=) c.324T= (p.Leu108=) n.3650T= | |
| 12 | g.40299170A= | CA2030983955 | LRRK2 | c.3409A= (p.Ser1137=) c.*2318A= (n.*2318A=) c.3154A= (p.Ser1052=) c.453A= n.90A= c.2206A= (p.Ser736=) c.325A= (p.Ser109=) n.3651A= | |
| 12 | g.40299170A>C | CA384415683 | LRRK2 | c.3409A>C (p.Ser1137Arg) c.*2318A>C (n.*2318A>C) c.3154A>C (p.Ser1052Arg) c.453A>C n.90A>C c.2206A>C (p.Ser736Arg) c.325A>C (p.Ser109Arg) n.3651A>C | dbSNP |
| 12 | g.40299170A>G | CA235349396 | LRRK2 | c.3409A>G (p.Ser1137Gly) c.*2318A>G (n.*2318A>G) c.3154A>G (p.Ser1052Gly) c.453A>G n.90A>G c.2206A>G (p.Ser736Gly) c.325A>G (p.Ser109Gly) n.3651A>G | dbSNP gnomAD v4 |
| 12 | g.40299170A>T | CA384415685 | LRRK2 | c.3409A>T (p.Ser1137Cys) c.*2318A>T (n.*2318A>T) c.3154A>T (p.Ser1052Cys) c.453A>T n.90A>T c.2206A>T (p.Ser736Cys) c.325A>T (p.Ser109Cys) n.3651A>T | |
| 12 | g.40299171G>A | CA384415687 | LRRK2 | c.3410G>A (p.Ser1137Asn) c.*2319G>A (n.*2319G>A) c.3155G>A (p.Ser1052Asn) c.454G>A n.91G>A c.2207G>A (p.Ser736Asn) c.326G>A (p.Ser109Asn) n.3652G>A | gnomAD v4 |
| 12 | g.40299171G>C | CA384415689 | LRRK2 | c.3410G>C (p.Ser1137Thr) c.*2319G>C (n.*2319G>C) c.3155G>C (p.Ser1052Thr) c.454G>C n.91G>C c.2207G>C (p.Ser736Thr) c.326G>C (p.Ser109Thr) n.3652G>C | |
| 12 | g.40299171G>T | CA384415691 | LRRK2 | c.3410G>T (p.Ser1137Ile) c.*2319G>T (n.*2319G>T) c.3155G>T (p.Ser1052Ile) c.454G>T n.91G>T c.2207G>T (p.Ser736Ile) c.326G>T (p.Ser109Ile) n.3652G>T | gnomAD v4 |
| 12 | g.40299172T>A | CA384415694 | LRRK2 | c.3411T>A (p.Ser1137Arg) c.*2320T>A (n.*2320T>A) c.3156T>A (p.Ser1052Arg) c.455T>A n.92T>A c.2208T>A (p.Ser736Arg) c.327T>A (p.Ser109Arg) n.3653T>A | ClinVar |
| 12 | g.40299172T>C | CA479251231 | LRRK2 | c.3411T>C (p.Ser1137=) c.*2320T>C (n.*2320T>C) c.3156T>C (p.Ser1052=) c.455T>C n.92T>C c.2208T>C (p.Ser736=) c.327T>C (p.Ser109=) n.3653T>C | |
| 12 | g.40299172T>G | CA384415693 | LRRK2 | c.3411T>G (p.Ser1137Arg) c.*2320T>G (n.*2320T>G) c.3156T>G (p.Ser1052Arg) c.455T>G n.92T>G c.2208T>G (p.Ser736Arg) c.327T>G (p.Ser109Arg) n.3653T>G | |
| 12 | g.40299173A= | CA2030983958 | LRRK2 | c.3412A= (p.Lys1138=) c.*2321A= (n.*2321A=) c.3157A= (p.Lys1053=) c.456A= n.93A= c.2209A= (p.Lys737=) c.328A= (p.Lys110=) n.3654A= | |
| 12 | g.40299173A>C | CA384415695 | LRRK2 | c.3412A>C (p.Lys1138Gln) c.*2321A>C (n.*2321A>C) c.3157A>C (p.Lys1053Gln) c.456A>C n.93A>C c.2209A>C (p.Lys737Gln) c.328A>C (p.Lys110Gln) n.3654A>C | |
| 12 | g.40299173A>G | CA235349400 | LRRK2 | c.3412A>G (p.Lys1138Glu) c.*2321A>G (n.*2321A>G) c.3157A>G (p.Lys1053Glu) c.456A>G n.93A>G c.2209A>G (p.Lys737Glu) c.328A>G (p.Lys110Glu) n.3654A>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.40299173A>T | CA384415696 | LRRK2 | c.3412A>T (p.Lys1138Ter) c.*2321A>T (n.*2321A>T) c.3157A>T (p.Lys1053Ter) c.456A>T n.93A>T c.2209A>T (p.Lys737Ter) c.328A>T (p.Lys110Ter) n.3654A>T | |
| 12 | g.40299174A>C | CA384415699 | LRRK2 | c.3413A>C (p.Lys1138Thr) c.*2322A>C (n.*2322A>C) c.3158A>C (p.Lys1053Thr) c.457A>C n.94A>C c.2210A>C (p.Lys737Thr) c.329A>C (p.Lys110Thr) n.3655A>C | |
| 12 | g.40299174A>G | CA384415703 | LRRK2 | c.3413A>G (p.Lys1138Arg) c.*2322A>G (n.*2322A>G) c.3158A>G (p.Lys1053Arg) c.457A>G n.94A>G c.2210A>G (p.Lys737Arg) c.329A>G (p.Lys110Arg) n.3655A>G | ClinVar |
| 12 | g.40299174A>T | CA384415701 | LRRK2 | c.3413A>T (p.Lys1138Met) c.*2322A>T (n.*2322A>T) c.3158A>T (p.Lys1053Met) c.457A>T n.94A>T c.2210A>T (p.Lys737Met) c.329A>T (p.Lys110Met) n.3655A>T | |
| 12 | g.40299175G>A | CA6513894 | LRRK2 | c.3414G>A (p.Lys1138=) c.*2323G>A (n.*2323G>A) c.3159G>A (p.Lys1053=) c.458G>A n.95G>A c.2211G>A (p.Lys737=) c.330G>A (p.Lys110=) n.3656G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.40299175G>C | CA384415708 | LRRK2 | c.3414G>C (p.Lys1138Asn) c.*2323G>C (n.*2323G>C) c.3159G>C (p.Lys1053Asn) c.458G>C n.95G>C c.2211G>C (p.Lys737Asn) c.330G>C (p.Lys110Asn) n.3656G>C | |
| 12 | g.40299175G= | CA2030983967 | LRRK2 | c.3414G= (p.Lys1138=) c.*2323G= (n.*2323G=) c.3159G= (p.Lys1053=) c.458G= n.95G= c.2211G= (p.Lys737=) c.330G= (p.Lys110=) n.3656G= | |
| 12 | g.40299175G>T | CA384415706 | LRRK2 | c.3414G>T (p.Lys1138Asn) c.*2323G>T (n.*2323G>T) c.3159G>T (p.Lys1053Asn) c.458G>T n.95G>T c.2211G>T (p.Lys737Asn) c.330G>T (p.Lys110Asn) n.3656G>T | gnomAD v4 |
| 12 | g.40299176A>C | CA384415710 | LRRK2 | c.3415A>C (p.Asn1139His) c.*2324A>C (n.*2324A>C) c.3160A>C (p.Asn1054His) c.459A>C n.96A>C c.2212A>C (p.Asn738His) c.331A>C (p.Asn111His) n.3657A>C | |
| 12 | g.40299176A>G | CA384415712 | LRRK2 | c.3415A>G (p.Asn1139Asp) c.*2324A>G (n.*2324A>G) c.3160A>G (p.Asn1054Asp) c.459A>G n.96A>G c.2212A>G (p.Asn738Asp) c.331A>G (p.Asn111Asp) n.3657A>G | gnomAD v4 |
| 12 | g.40299176A>T | CA384415714 | LRRK2 | c.3415A>T (p.Asn1139Tyr) c.*2324A>T (n.*2324A>T) c.3160A>T (p.Asn1054Tyr) c.459A>T n.96A>T c.2212A>T (p.Asn738Tyr) c.331A>T (p.Asn111Tyr) n.3657A>T | |
| 12 | g.40299177A>C | CA384415716 | LRRK2 | c.3416A>C (p.Asn1139Thr) c.*2325A>C (n.*2325A>C) c.3161A>C (p.Asn1054Thr) c.460A>C n.97A>C c.2213A>C (p.Asn738Thr) c.332A>C (p.Asn111Thr) n.3658A>C | |
| 12 | g.40299177A>G | CA384415718 | LRRK2 | c.3416A>G (p.Asn1139Ser) c.*2325A>G (n.*2325A>G) c.3161A>G (p.Asn1054Ser) c.460A>G n.97A>G c.2213A>G (p.Asn738Ser) c.332A>G (p.Asn111Ser) n.3658A>G | |
| 12 | g.40299177A>T | CA384415719 | LRRK2 | c.3416A>T (p.Asn1139Ile) c.*2325A>T (n.*2325A>T) c.3161A>T (p.Asn1054Ile) c.460A>T n.97A>T c.2213A>T (p.Asn738Ile) c.332A>T (p.Asn111Ile) n.3658A>T | COSMIC COSMIC |
| 12 | g.40299178C>A | CA384415720 | LRRK2 | c.3417C>A (p.Asn1139Lys) c.*2326C>A (n.*2326C>A) c.3162C>A (p.Asn1054Lys) c.461C>A n.98C>A c.2214C>A (p.Asn738Lys) c.333C>A (p.Asn111Lys) n.3659C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40299178C= | CA2030983979 | LRRK2 | c.3417C= (p.Asn1139=) c.*2326C= (n.*2326C=) c.3162C= (p.Asn1054=) c.461C= n.98C= c.2214C= (p.Asn738=) c.333C= (p.Asn111=) n.3659C= | |
| 12 | g.40299178C>G | CA6513895 | LRRK2 | c.3417C>G (p.Asn1139Lys) c.*2326C>G (n.*2326C>G) c.3162C>G (p.Asn1054Lys) c.461C>G n.98C>G c.2214C>G (p.Asn738Lys) c.333C>G (p.Asn111Lys) n.3659C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.40299178C>T | CA6513896 | LRRK2 | c.3417C>T (p.Asn1139=) c.*2326C>T (n.*2326C>T) c.3162C>T (p.Asn1054=) c.461C>T n.98C>T c.2214C>T (p.Asn738=) c.333C>T (p.Asn111=) n.3659C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.40299179C>A | CA384415724 | LRRK2 | c.3418C>A (p.His1140Asn) c.*2327C>A (n.*2327C>A) c.3163C>A (p.His1055Asn) c.462C>A n.99C>A c.2215C>A (p.His739Asn) c.334C>A (p.His112Asn) n.3660C>A | |
| 12 | g.40299179C>G | CA384415726 | LRRK2 | c.3418C>G (p.His1140Asp) c.*2327C>G (n.*2327C>G) c.3163C>G (p.His1055Asp) c.462C>G n.99C>G c.2215C>G (p.His739Asp) c.334C>G (p.His112Asp) n.3660C>G | |
| 12 | g.40299179C>T | CA384415728 | LRRK2 | c.3418C>T (p.His1140Tyr) c.*2327C>T (n.*2327C>T) c.3163C>T (p.His1055Tyr) c.462C>T n.99C>T c.2215C>T (p.His739Tyr) c.334C>T (p.His112Tyr) n.3660C>T | |
| 12 | g.40299180A>C | CA384415730 | LRRK2 | c.3419A>C (p.His1140Pro) c.*2328A>C (n.*2328A>C) c.3164A>C (p.His1055Pro) c.463A>C n.100A>C c.2216A>C (p.His739Pro) c.335A>C (p.His112Pro) n.3661A>C | |
| 12 | g.40299180A>G | CA384415734 | LRRK2 | c.3419A>G (p.His1140Arg) c.*2328A>G (n.*2328A>G) c.3164A>G (p.His1055Arg) c.463A>G n.100A>G c.2216A>G (p.His739Arg) c.335A>G (p.His112Arg) n.3661A>G | |
| 12 | g.40299180A>T | CA384415732 | LRRK2 | c.3419A>T (p.His1140Leu) c.*2328A>T (n.*2328A>T) c.3164A>T (p.His1055Leu) c.463A>T n.100A>T c.2216A>T (p.His739Leu) c.335A>T (p.His112Leu) n.3661A>T | |
| 12 | g.40299181C>A | CA384415736 | LRRK2 | c.3420C>A (p.His1140Gln) c.*2329C>A (n.*2329C>A) c.3165C>A (p.His1055Gln) c.464C>A n.101C>A c.2217C>A (p.His739Gln) c.336C>A (p.His112Gln) n.3662C>A | |
| 12 | g.40299181C= | CA2030983985 | LRRK2 | c.3420C= (p.His1140=) c.*2329C= (n.*2329C=) c.3165C= (p.His1055=) c.464C= n.101C= c.2217C= (p.His739=) c.336C= (p.His112=) n.3662C= | |
| 12 | g.40299181C>G | CA384415738 | LRRK2 | c.3420C>G (p.His1140Gln) c.*2329C>G (n.*2329C>G) c.3165C>G (p.His1055Gln) c.464C>G n.101C>G c.2217C>G (p.His739Gln) c.336C>G (p.His112Gln) n.3662C>G | |
| 12 | g.40299181C>T | CA479251261 | LRRK2 | c.3420C>T (p.His1140=) c.*2329C>T (n.*2329C>T) c.3165C>T (p.His1055=) c.464C>T n.101C>T c.2217C>T (p.His739=) c.336C>T (p.His112=) n.3662C>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.40299183_40299196del | CA2575121868 | LRRK2 | c.3422_3435del (p.Ile1141ArgfsTer5) c.*2331_*2344del (n.*2331_*2344del) c.3167_3180del (p.Ile1056ArgfsTer5) c.466_479del n.103_116del c.2219_2232del (p.Ile740ArgfsTer5) c.338_351del (p.Ile113ArgfsTer5) n.3664_3677del | gnomAD v4 |
| 12 | g.40299182A= | CA2030983990 | LRRK2 | c.3421A= (p.Ile1141=) c.*2330A= (n.*2330A=) c.3166A= (p.Ile1056=) c.465A= n.102A= c.2218A= (p.Ile740=) c.337A= (p.Ile113=) n.3663A= | |
| 12 | g.40299182A>C | CA384415739 | LRRK2 | c.3421A>C (p.Ile1141Leu) c.*2330A>C (n.*2330A>C) c.3166A>C (p.Ile1056Leu) c.465A>C n.102A>C c.2218A>C (p.Ile740Leu) c.337A>C (p.Ile113Leu) n.3663A>C | |
| 12 | g.40299182A>G | CA6513897 | LRRK2 | c.3421A>G (p.Ile1141Val) c.*2330A>G (n.*2330A>G) c.3166A>G (p.Ile1056Val) c.465A>G n.102A>G c.2218A>G (p.Ile740Val) c.337A>G (p.Ile113Val) n.3663A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40299182A>T | CA384415741 | LRRK2 | c.3421A>T (p.Ile1141Phe) c.*2330A>T (n.*2330A>T) c.3166A>T (p.Ile1056Phe) c.465A>T n.102A>T c.2218A>T (p.Ile740Phe) c.337A>T (p.Ile113Phe) n.3663A>T | |
| 12 | g.40299183T>A | CA384415742 | LRRK2 | c.3422T>A (p.Ile1141Asn) c.*2331T>A (n.*2331T>A) c.3167T>A (p.Ile1056Asn) c.466T>A n.103T>A c.2219T>A (p.Ile740Asn) c.338T>A (p.Ile113Asn) n.3664T>A | |
| 12 | g.40299183T>C | CA384415743 | LRRK2 | c.3422T>C (p.Ile1141Thr) c.*2331T>C (n.*2331T>C) c.3167T>C (p.Ile1056Thr) c.466T>C n.103T>C c.2219T>C (p.Ile740Thr) c.338T>C (p.Ile113Thr) n.3664T>C | |
| 12 | g.40299183T>G | CA384415745 | LRRK2 | c.3422T>G (p.Ile1141Ser) c.*2331T>G (n.*2331T>G) c.3167T>G (p.Ile1056Ser) c.466T>G n.103T>G c.2219T>G (p.Ile740Ser) c.338T>G (p.Ile113Ser) n.3664T>G | |
| 12 | g.40299184T>A | CA479251271 | LRRK2 | c.3423T>A (p.Ile1141=) c.*2332T>A (n.*2332T>A) c.3168T>A (p.Ile1056=) c.467T>A n.104T>A c.2220T>A (p.Ile740=) c.339T>A (p.Ile113=) n.3665T>A | |
| 12 | g.40299184T>C | CA479251273 | LRRK2 | c.3423T>C (p.Ile1141=) c.*2332T>C (n.*2332T>C) c.3168T>C (p.Ile1056=) c.467T>C n.104T>C c.2220T>C (p.Ile740=) c.339T>C (p.Ile113=) n.3665T>C | |
| 12 | g.40299184T>G | CA384415747 | LRRK2 | c.3423T>G (p.Ile1141Met) c.*2332T>G (n.*2332T>G) c.3168T>G (p.Ile1056Met) c.467T>G n.104T>G c.2220T>G (p.Ile740Met) c.339T>G (p.Ile113Met) n.3665T>G | |
| 12 | g.40299185T>A | CA384415749 | LRRK2 | c.3424T>A (p.Ser1142Thr) c.*2333T>A (n.*2333T>A) c.3169T>A (p.Ser1057Thr) c.468T>A n.105T>A c.2221T>A (p.Ser741Thr) c.340T>A (p.Ser114Thr) n.3666T>A | |
| 12 | g.40299185T>C | CA384415751 | LRRK2 | c.3424T>C (p.Ser1142Pro) c.*2333T>C (n.*2333T>C) c.3169T>C (p.Ser1057Pro) c.468T>C n.105T>C c.2221T>C (p.Ser741Pro) c.340T>C (p.Ser114Pro) n.3666T>C | |
| 12 | g.40299185T>G | CA384415748 | LRRK2 | c.3424T>G (p.Ser1142Ala) c.*2333T>G (n.*2333T>G) c.3169T>G (p.Ser1057Ala) c.468T>G n.105T>G c.2221T>G (p.Ser741Ala) c.340T>G (p.Ser114Ala) n.3666T>G | |
| 12 | g.40299186C>A | CA384415752 | LRRK2 | c.3425C>A (p.Ser1142Ter) c.*2334C>A (n.*2334C>A) c.3170C>A (p.Ser1057Ter) c.469C>A n.106C>A c.2222C>A (p.Ser741Ter) c.341C>A (p.Ser114Ter) n.3667C>A | |
| 12 | g.40299186C>G | CA384415754 | LRRK2 | c.3425C>G (p.Ser1142Ter) c.*2334C>G (n.*2334C>G) c.3170C>G (p.Ser1057Ter) c.469C>G n.106C>G c.2222C>G (p.Ser741Ter) c.341C>G (p.Ser114Ter) n.3667C>G | |
| 12 | g.40299186C>T | CA384415756 | LRRK2 | c.3425C>T (p.Ser1142Leu) c.*2334C>T (n.*2334C>T) c.3170C>T (p.Ser1057Leu) c.469C>T n.106C>T c.2222C>T (p.Ser741Leu) c.341C>T (p.Ser114Leu) n.3667C>T | |
| 12 | g.40299187A>C | CA479251286 | LRRK2 | c.3426A>C (p.Ser1142=) c.*2335A>C (n.*2335A>C) c.3171A>C (p.Ser1057=) c.470A>C n.107A>C c.2223A>C (p.Ser741=) c.342A>C (p.Ser114=) n.3668A>C | |
| 12 | g.40299187A>G | CA479251282 | LRRK2 | c.3426A>G (p.Ser1142=) c.*2335A>G (n.*2335A>G) c.3171A>G (p.Ser1057=) c.470A>G n.107A>G c.2223A>G (p.Ser741=) c.342A>G (p.Ser114=) n.3668A>G | |
| 12 | g.40299187A>T | CA479251284 | LRRK2 | c.3426A>T (p.Ser1142=) c.*2335A>T (n.*2335A>T) c.3171A>T (p.Ser1057=) c.470A>T n.107A>T c.2223A>T (p.Ser741=) c.342A>T (p.Ser114=) n.3668A>T | |
| 12 | g.40299188T>A | CA384415759 | LRRK2 | c.3427T>A (p.Ser1143Thr) c.*2336T>A (n.*2336T>A) c.3172T>A (p.Ser1058Thr) c.471T>A n.108T>A c.2224T>A (p.Ser742Thr) c.343T>A (p.Ser115Thr) n.3669T>A | dbSNP |
| 12 | g.40299188T>C | CA384415760 | LRRK2 | c.3427T>C (p.Ser1143Pro) c.*2336T>C (n.*2336T>C) c.3172T>C (p.Ser1058Pro) c.471T>C n.108T>C c.2224T>C (p.Ser742Pro) c.343T>C (p.Ser115Pro) n.3669T>C | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.40299188T>G | CA384415762 | LRRK2 | c.3427T>G (p.Ser1143Ala) c.*2336T>G (n.*2336T>G) c.3172T>G (p.Ser1058Ala) c.471T>G n.108T>G c.2224T>G (p.Ser742Ala) c.343T>G (p.Ser115Ala) n.3669T>G | |
| 12 | g.40299188T= | CA2030983995 | LRRK2 | c.3427T= (p.Ser1143=) c.*2336T= (n.*2336T=) c.3172T= (p.Ser1058=) c.471T= n.108T= c.2224T= (p.Ser742=) c.343T= (p.Ser115=) n.3669T= | |
| 12 | g.40299189C>A | CA384415765 | LRRK2 | c.3428C>A (p.Ser1143Tyr) c.*2337C>A (n.*2337C>A) c.3173C>A (p.Ser1058Tyr) c.472C>A n.109C>A c.2225C>A (p.Ser742Tyr) c.344C>A (p.Ser115Tyr) n.3670C>A | |
| 12 | g.40299189C>G | CA384415767 | LRRK2 | c.3428C>G (p.Ser1143Cys) c.*2337C>G (n.*2337C>G) c.3173C>G (p.Ser1058Cys) c.472C>G n.109C>G c.2225C>G (p.Ser742Cys) c.344C>G (p.Ser115Cys) n.3670C>G | |
| 12 | g.40299189C>T | CA384415769 | LRRK2 | c.3428C>T (p.Ser1143Phe) c.*2337C>T (n.*2337C>T) c.3173C>T (p.Ser1058Phe) c.472C>T n.109C>T c.2225C>T (p.Ser742Phe) c.344C>T (p.Ser115Phe) n.3670C>T | ClinVar |
| 12 | g.40299190C>A | CA479251294 | LRRK2 | c.3429C>A (p.Ser1143=) c.*2338C>A (n.*2338C>A) c.3174C>A (p.Ser1058=) c.473C>A n.110C>A c.2226C>A (p.Ser742=) c.345C>A (p.Ser115=) n.3671C>A | |
| 12 | g.40299190C= | CA2030983996 | LRRK2 | c.3429C= (p.Ser1143=) c.*2338C= (n.*2338C=) c.3174C= (p.Ser1058=) c.473C= n.110C= c.2226C= (p.Ser742=) c.345C= (p.Ser115=) n.3671C= | |
| 12 | g.40299190C>G | CA479251296 | LRRK2 | c.3429C>G (p.Ser1143=) c.*2338C>G (n.*2338C>G) c.3174C>G (p.Ser1058=) c.473C>G n.110C>G c.2226C>G (p.Ser742=) c.345C>G (p.Ser115=) n.3671C>G | |
| 12 | g.40299190C>T | CA6513898 | LRRK2 | c.3429C>T (p.Ser1143=) c.*2338C>T (n.*2338C>T) c.3174C>T (p.Ser1058=) c.473C>T n.110C>T c.2226C>T (p.Ser742=) c.345C>T (p.Ser115=) n.3671C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.40299191C>A | CA384415773 | LRRK2 | c.3430C>A (p.Leu1144Ile) c.*2339C>A (n.*2339C>A) c.3175C>A (p.Leu1059Ile) c.474C>A n.111C>A c.2227C>A (p.Leu743Ile) c.346C>A (p.Leu116Ile) n.3672C>A | COSMIC COSMIC |
| 12 | g.40299191C>G | CA384415775 | LRRK2 | c.3430C>G (p.Leu1144Val) c.*2339C>G (n.*2339C>G) c.3175C>G (p.Leu1059Val) c.474C>G n.111C>G c.2227C>G (p.Leu743Val) c.346C>G (p.Leu116Val) n.3672C>G | |
| 12 | g.40299191C>T | CA479251301 | LRRK2 | c.3430C>T (p.Leu1144=) c.*2339C>T (n.*2339C>T) c.3175C>T (p.Leu1059=) c.474C>T n.111C>T c.2227C>T (p.Leu743=) c.346C>T (p.Leu116=) n.3672C>T | |
| 12 | g.40299192T>A | CA235349418 | LRRK2 | c.3431T>A (p.Leu1144Gln) c.*2340T>A (n.*2340T>A) c.3176T>A (p.Leu1059Gln) c.475T>A n.112T>A c.2228T>A (p.Leu743Gln) c.347T>A (p.Leu116Gln) n.3673T>A | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.40299192T>C | CA384415779 | LRRK2 | c.3431T>C (p.Leu1144Pro) c.*2340T>C (n.*2340T>C) c.3176T>C (p.Leu1059Pro) c.475T>C n.112T>C c.2228T>C (p.Leu743Pro) c.347T>C (p.Leu116Pro) n.3673T>C | ClinVar |
| 12 | g.40299192T>G | CA384415777 | LRRK2 | c.3431T>G (p.Leu1144Arg) c.*2340T>G (n.*2340T>G) c.3176T>G (p.Leu1059Arg) c.475T>G n.112T>G c.2228T>G (p.Leu743Arg) c.347T>G (p.Leu116Arg) n.3673T>G | |
| 12 | g.40299192T= | CA2030984000 | LRRK2 | c.3431T= (p.Leu1144=) c.*2340T= (n.*2340T=) c.3176T= (p.Leu1059=) c.475T= n.112T= c.2228T= (p.Leu743=) c.347T= (p.Leu116=) n.3673T= | |
| 12 | g.40299193A= | CA2030984004 | LRRK2 | c.3432A= (p.Leu1144=) c.*2341A= (n.*2341A=) c.3177A= (p.Leu1059=) c.476A= n.113A= c.2229A= (p.Leu743=) c.348A= (p.Leu116=) n.3674A= | |
| 12 | g.40299193A>C | CA479251307 | LRRK2 | c.3432A>C (p.Leu1144=) c.*2341A>C (n.*2341A>C) c.3177A>C (p.Leu1059=) c.476A>C n.113A>C c.2229A>C (p.Leu743=) c.348A>C (p.Leu116=) n.3674A>C | |
| 12 | g.40299193A>G | CA6513899 | LRRK2 | c.3432A>G (p.Leu1144=) c.*2341A>G (n.*2341A>G) c.3177A>G (p.Leu1059=) c.476A>G n.113A>G c.2229A>G (p.Leu743=) c.348A>G (p.Leu116=) n.3674A>G | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.40299193A>T | CA479251309 | LRRK2 | c.3432A>T (p.Leu1144=) c.*2341A>T (n.*2341A>T) c.3177A>T (p.Leu1059=) c.476A>T n.113A>T c.2229A>T (p.Leu743=) c.348A>T (p.Leu116=) n.3674A>T | ClinVar gnomAD v4 |
| 12 | g.40299194T>A | CA384415781 | LRRK2 | c.3433T>A (p.Ser1145Thr) c.*2342T>A (n.*2342T>A) c.3178T>A (p.Ser1060Thr) c.477T>A n.114T>A c.2230T>A (p.Ser744Thr) c.349T>A (p.Ser117Thr) n.3675T>A | |
| 12 | g.40299194T>C | CA384415782 | LRRK2 | c.3433T>C (p.Ser1145Pro) c.*2342T>C (n.*2342T>C) c.3178T>C (p.Ser1060Pro) c.477T>C n.114T>C c.2230T>C (p.Ser744Pro) c.349T>C (p.Ser117Pro) n.3675T>C | ClinVar dbSNP |
| 12 | g.40299194T>G | CA384415783 | LRRK2 | c.3433T>G (p.Ser1145Ala) c.*2342T>G (n.*2342T>G) c.3178T>G (p.Ser1060Ala) c.477T>G n.114T>G c.2230T>G (p.Ser744Ala) c.349T>G (p.Ser117Ala) n.3675T>G | |
| 12 | g.40299194T= | CA2030984011 | LRRK2 | c.3433T= (p.Ser1145=) c.*2342T= (n.*2342T=) c.3178T= (p.Ser1060=) c.477T= n.114T= c.2230T= (p.Ser744=) c.349T= (p.Ser117=) n.3675T= | |
| 12 | g.40299195C>A | CA384415788 | LRRK2 | c.3434C>A (p.Ser1145Ter) c.*2343C>A (n.*2343C>A) c.3179C>A (p.Ser1060Ter) c.478C>A n.115C>A c.2231C>A (p.Ser744Ter) c.350C>A (p.Ser117Ter) n.3676C>A | |
| 12 | g.40299195C= | CA2030984014 | LRRK2 | c.3434C= (p.Ser1145=) c.*2343C= (n.*2343C=) c.3179C= (p.Ser1060=) c.478C= n.115C= c.2231C= (p.Ser744=) c.350C= (p.Ser117=) n.3676C= | |
| 12 | g.40299195C>G | CA384415786 | LRRK2 | c.3434C>G (p.Ser1145Ter) c.*2343C>G (n.*2343C>G) c.3179C>G (p.Ser1060Ter) c.478C>G n.115C>G c.2231C>G (p.Ser744Ter) c.350C>G (p.Ser117Ter) n.3676C>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.40299195C>T | CA384415785 | LRRK2 | c.3434C>T (p.Ser1145Leu) c.*2343C>T (n.*2343C>T) c.3179C>T (p.Ser1060Leu) c.478C>T n.115C>T c.2231C>T (p.Ser744Leu) c.350C>T (p.Ser117Leu) n.3676C>T | dbSNP gnomAD v4 |
| 12 | g.40299196A= | CA2030984022 | LRRK2 | c.3435A= (p.Ser1145=) c.*2344A= (n.*2344A=) c.3180A= (p.Ser1060=) c.479A= n.116A= c.2232A= (p.Ser744=) c.351A= (p.Ser117=) n.3677A= | |
| 12 | g.40299196A>C | CA10642130 | LRRK2 | c.3435A>C (p.Ser1145=) c.*2344A>C (n.*2344A>C) c.3180A>C (p.Ser1060=) c.479A>C n.116A>C c.2232A>C (p.Ser744=) c.351A>C (p.Ser117=) n.3677A>C | ClinVar dbSNP |
| 12 | g.40299196A>G | CA479251318 | LRRK2 | c.3435A>G (p.Ser1145=) c.*2344A>G (n.*2344A>G) c.3180A>G (p.Ser1060=) c.479A>G n.116A>G c.2232A>G (p.Ser744=) c.351A>G (p.Ser117=) n.3677A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40299196A>T | CA479251320 | LRRK2 | c.3435A>T (p.Ser1145=) c.*2344A>T (n.*2344A>T) c.3180A>T (p.Ser1060=) c.479A>T n.116A>T c.2232A>T (p.Ser744=) c.351A>T (p.Ser117=) n.3677A>T | |
| 12 | g.40299197G>A | CA384415799 | LRRK2 | c.3436G>A (p.Glu1146Lys) c.*2345G>A (n.*2345G>A) c.3181G>A (p.Glu1061Lys) c.480G>A n.117G>A c.2233G>A (p.Glu745Lys) c.352G>A (p.Glu118Lys) n.3678G>A | |
| 12 | g.40299197G>C | CA384415800 | LRRK2 | c.3436G>C (p.Glu1146Gln) c.*2345G>C (n.*2345G>C) c.3181G>C (p.Glu1061Gln) c.480G>C n.117G>C c.2233G>C (p.Glu745Gln) c.352G>C (p.Glu118Gln) n.3678G>C | |
| 12 | g.40299197G>T | CA384415802 | LRRK2 | c.3436G>T (p.Glu1146Ter) c.*2345G>T (n.*2345G>T) c.3181G>T (p.Glu1061Ter) c.480G>T n.117G>T c.2233G>T (p.Glu745Ter) c.352G>T (p.Glu118Ter) n.3678G>T | |
| 12 | g.40299198A>C | CA384415804 | LRRK2 | c.3437A>C (p.Glu1146Ala) c.*2346A>C (n.*2346A>C) c.3182A>C (p.Glu1061Ala) c.481A>C n.118A>C c.2234A>C (p.Glu745Ala) c.353A>C (p.Glu118Ala) n.3679A>C | |
| 12 | g.40299198A>G | CA384415805 | LRRK2 | c.3437A>G (p.Glu1146Gly) c.*2346A>G (n.*2346A>G) c.3182A>G (p.Glu1061Gly) c.481A>G n.118A>G c.2234A>G (p.Glu745Gly) c.353A>G (p.Glu118Gly) n.3679A>G | |
| 12 | g.40299198A>T | CA384415807 | LRRK2 | c.3437A>T (p.Glu1146Val) c.*2346A>T (n.*2346A>T) c.3182A>T (p.Glu1061Val) c.481A>T n.118A>T c.2234A>T (p.Glu745Val) c.353A>T (p.Glu118Val) n.3679A>T | |
| 12 | g.40299199G>A | CA479251327 | LRRK2 | c.3438G>A (p.Glu1146=) c.*2347G>A (n.*2347G>A) c.3183G>A (p.Glu1061=) c.482G>A n.119G>A c.2235G>A (p.Glu745=) c.354G>A (p.Glu118=) n.3680G>A | gnomAD v3 gnomAD v4 |
| 12 | g.40299199G>C | CA384415809 | LRRK2 | c.3438G>C (p.Glu1146Asp) c.*2347G>C (n.*2347G>C) c.3183G>C (p.Glu1061Asp) c.482G>C n.119G>C c.2235G>C (p.Glu745Asp) c.354G>C (p.Glu118Asp) n.3680G>C | |
| 12 | g.40299199G= | CA2030984025 | LRRK2 | c.3438G= (p.Glu1146=) c.*2347G= (n.*2347G=) c.3183G= (p.Glu1061=) c.482G= n.119G= c.2235G= (p.Glu745=) c.354G= (p.Glu118=) n.3680G= | |
| 12 | g.40299199G>T | CA6513900 | LRRK2 | c.3438G>T (p.Glu1146Asp) c.*2347G>T (n.*2347G>T) c.3183G>T (p.Glu1061Asp) c.482G>T n.119G>T c.2235G>T (p.Glu745Asp) c.354G>T (p.Glu118Asp) n.3680G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.40299200A= | CA2030984027 | LRRK2 | c.3439A= (p.Asn1147=) c.*2348A= (n.*2348A=) c.3184A= (p.Asn1062=) c.483A= n.120A= c.2236A= (p.Asn746=) c.355A= (p.Asn119=) n.3681A= | |
| 12 | g.40299200A>C | CA384415812 | LRRK2 | c.3439A>C (p.Asn1147His) c.*2348A>C (n.*2348A>C) c.3184A>C (p.Asn1062His) c.483A>C n.120A>C c.2236A>C (p.Asn746His) c.355A>C (p.Asn119His) n.3681A>C | |
| 12 | g.40299200A>G | CA384415824 | LRRK2 | c.3439A>G (p.Asn1147Asp) c.*2348A>G (n.*2348A>G) c.3184A>G (p.Asn1062Asp) c.483A>G n.120A>G c.2236A>G (p.Asn746Asp) c.355A>G (p.Asn119Asp) n.3681A>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.40299200A>T | CA384415814 | LRRK2 | c.3439A>T (p.Asn1147Tyr) c.*2348A>T (n.*2348A>T) c.3184A>T (p.Asn1062Tyr) c.483A>T n.120A>T c.2236A>T (p.Asn746Tyr) c.355A>T (p.Asn119Tyr) n.3681A>T | COSMIC COSMIC |
| 12 | g.40299201A>C | CA384415826 | LRRK2 | c.3440A>C (p.Asn1147Thr) c.*2349A>C (n.*2349A>C) c.3185A>C (p.Asn1062Thr) c.484A>C n.121A>C c.2237A>C (p.Asn746Thr) c.356A>C (p.Asn119Thr) n.3682A>C | |
| 12 | g.40299201A>G | CA384415828 | LRRK2 | c.3440A>G (p.Asn1147Ser) c.*2349A>G (n.*2349A>G) c.3185A>G (p.Asn1062Ser) c.484A>G n.121A>G c.2237A>G (p.Asn746Ser) c.356A>G (p.Asn119Ser) n.3682A>G | gnomAD v4 |
| 12 | g.40299201A>T | CA384415831 | LRRK2 | c.3440A>T (p.Asn1147Ile) c.*2349A>T (n.*2349A>T) c.3185A>T (p.Asn1062Ile) c.484A>T n.121A>T c.2237A>T (p.Asn746Ile) c.356A>T (p.Asn119Ile) n.3682A>T | |
| 12 | g.40299202C>A | CA384415833 | LRRK2 | c.3441C>A (p.Asn1147Lys) c.*2350C>A (n.*2350C>A) c.3186C>A (p.Asn1062Lys) c.485C>A n.122C>A c.2238C>A (p.Asn746Lys) c.357C>A (p.Asn119Lys) n.3683C>A | |
| 12 | g.40299202C>G | CA384415835 | LRRK2 | c.3441C>G (p.Asn1147Lys) c.*2350C>G (n.*2350C>G) c.3186C>G (p.Asn1062Lys) c.485C>G n.122C>G c.2238C>G (p.Asn746Lys) c.357C>G (p.Asn119Lys) n.3683C>G | |
| 12 | g.40299202C>T | CA479251337 | LRRK2 | c.3441C>T (p.Asn1147=) c.*2350C>T (n.*2350C>T) c.3186C>T (p.Asn1062=) c.485C>T n.122C>T c.2238C>T (p.Asn746=) c.357C>T (p.Asn119=) n.3683C>T | |
| 12 | g.40299203T>A | CA384415837 | LRRK2 | c.3442T>A (p.Phe1148Ile) c.*2351T>A (n.*2351T>A) c.3187T>A (p.Phe1063Ile) c.486T>A n.123T>A c.2239T>A (p.Phe747Ile) c.358T>A (p.Phe120Ile) n.3684T>A | |
| 12 | g.40299203T>C | CA384415841 | LRRK2 | c.3442T>C (p.Phe1148Leu) c.*2351T>C (n.*2351T>C) c.3187T>C (p.Phe1063Leu) c.486T>C n.123T>C c.2239T>C (p.Phe747Leu) c.358T>C (p.Phe120Leu) n.3684T>C | |
| 12 | g.40299203T>G | CA384415843 | LRRK2 | c.3442T>G (p.Phe1148Val) c.*2351T>G (n.*2351T>G) c.3187T>G (p.Phe1063Val) c.486T>G n.123T>G c.2239T>G (p.Phe747Val) c.358T>G (p.Phe120Val) n.3684T>G | gnomAD v4 |
| 12 | g.40299204T>A | CA384415846 | LRRK2 | c.3443T>A (p.Phe1148Tyr) c.*2352T>A (n.*2352T>A) c.3188T>A (p.Phe1063Tyr) c.487T>A n.124T>A c.2240T>A (p.Phe747Tyr) c.359T>A (p.Phe120Tyr) n.3685T>A | |
| 12 | g.40299204T>C | CA6513901 | LRRK2 | c.3443T>C (p.Phe1148Ser) c.*2352T>C (n.*2352T>C) c.3188T>C (p.Phe1063Ser) c.487T>C n.124T>C c.2240T>C (p.Phe747Ser) c.359T>C (p.Phe120Ser) n.3685T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.40299204T>G | CA384415849 | LRRK2 | c.3443T>G (p.Phe1148Cys) c.*2352T>G (n.*2352T>G) c.3188T>G (p.Phe1063Cys) c.487T>G n.124T>G c.2240T>G (p.Phe747Cys) c.359T>G (p.Phe120Cys) n.3685T>G | |
| 12 | g.40299204T= | CA2030984030 | LRRK2 | c.3443T= (p.Phe1148=) c.*2352T= (n.*2352T=) c.3188T= (p.Phe1063=) c.487T= n.124T= c.2240T= (p.Phe747=) c.359T= (p.Phe120=) n.3685T= | |
| 12 | g.40299205T>A | CA384415853 | LRRK2 | c.3444T>A (p.Phe1148Leu) c.*2353T>A (n.*2353T>A) c.3189T>A (p.Phe1063Leu) c.488T>A n.125T>A c.2241T>A (p.Phe747Leu) c.360T>A (p.Phe120Leu) n.3686T>A | |
| 12 | g.40299205T>C | CA479251345 | LRRK2 | c.3444T>C (p.Phe1148=) c.*2353T>C (n.*2353T>C) c.3189T>C (p.Phe1063=) c.488T>C n.125T>C c.2241T>C (p.Phe747=) c.360T>C (p.Phe120=) n.3686T>C | |
| 12 | g.40299205T>G | CA384415852 | LRRK2 | c.3444T>G (p.Phe1148Leu) c.*2353T>G (n.*2353T>G) c.3189T>G (p.Phe1063Leu) c.488T>G n.125T>G c.2241T>G (p.Phe747Leu) c.360T>G (p.Phe120Leu) n.3686T>G | |
| 12 | g.40299206C>A | CA384415855 | LRRK2 | c.3445C>A (p.Leu1149Ile) c.*2354C>A (n.*2354C>A) c.3190C>A (p.Leu1064Ile) c.489C>A n.126C>A c.2242C>A (p.Leu748Ile) c.361C>A (p.Leu121Ile) n.3687C>A | COSMIC COSMIC |
| 12 | g.40299206C>G | CA384415857 | LRRK2 | c.3445C>G (p.Leu1149Val) c.*2354C>G (n.*2354C>G) c.3190C>G (p.Leu1064Val) c.489C>G n.126C>G c.2242C>G (p.Leu748Val) c.361C>G (p.Leu121Val) n.3687C>G | gnomAD v4 |
| 12 | g.40299206C>T | CA384415858 | LRRK2 | c.3445C>T (p.Leu1149Phe) c.*2354C>T (n.*2354C>T) c.3190C>T (p.Leu1064Phe) c.489C>T n.126C>T c.2242C>T (p.Leu748Phe) c.361C>T (p.Leu121Phe) n.3687C>T | gnomAD v4 |
| 12 | g.40299207T>A | CA384415860 | LRRK2 | c.3446T>A (p.Leu1149His) c.*2355T>A (n.*2355T>A) c.3191T>A (p.Leu1064His) c.490T>A n.127T>A c.2243T>A (p.Leu748His) c.362T>A (p.Leu121His) n.3688T>A | |
| 12 | g.40299207T>C | CA6513902 | LRRK2 | c.3446T>C (p.Leu1149Pro) c.*2355T>C (n.*2355T>C) c.3191T>C (p.Leu1064Pro) c.490T>C n.127T>C c.2243T>C (p.Leu748Pro) c.362T>C (p.Leu121Pro) n.3688T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.40299207T>G | CA384415863 | LRRK2 | c.3446T>G (p.Leu1149Arg) c.*2355T>G (n.*2355T>G) c.3191T>G (p.Leu1064Arg) c.490T>G n.127T>G c.2243T>G (p.Leu748Arg) c.362T>G (p.Leu121Arg) n.3688T>G | ClinVar |
| 12 | g.40299207T= | CA2030984034 | LRRK2 | c.3446T= (p.Leu1149=) c.*2355T= (n.*2355T=) c.3191T= (p.Leu1064=) c.490T= n.127T= c.2243T= (p.Leu748=) c.362T= (p.Leu121=) n.3688T= | |
| 12 | g.40299208T>A | CA479251359 | LRRK2 | c.3447T>A (p.Leu1149=) c.*2356T>A (n.*2356T>A) c.3192T>A (p.Leu1064=) c.491T>A n.128T>A c.2244T>A (p.Leu748=) c.363T>A (p.Leu121=) n.3689T>A | |
| 12 | g.40299208T>C | CA479251357 | LRRK2 | c.3447T>C (p.Leu1149=) c.*2356T>C (n.*2356T>C) c.3192T>C (p.Leu1064=) c.491T>C n.128T>C c.2244T>C (p.Leu748=) c.363T>C (p.Leu121=) n.3689T>C | |
| 12 | g.40299208T>G | CA479251358 | LRRK2 | c.3447T>G (p.Leu1149=) c.*2356T>G (n.*2356T>G) c.3192T>G (p.Leu1064=) c.491T>G n.128T>G c.2244T>G (p.Leu748=) c.363T>G (p.Leu121=) n.3689T>G | gnomAD v4 |
| 12 | g.40299209G>A | CA384415865 | LRRK2 | c.3448G>A (p.Glu1150Lys) c.*2357G>A (n.*2357G>A) c.3193G>A (p.Glu1065Lys) c.492G>A n.129G>A c.2245G>A (p.Glu749Lys) c.364G>A (p.Glu122Lys) n.3690G>A | |
| 12 | g.40299209G>C | CA384415866 | LRRK2 | c.3448G>C (p.Glu1150Gln) c.*2357G>C (n.*2357G>C) c.3193G>C (p.Glu1065Gln) c.492G>C n.129G>C c.2245G>C (p.Glu749Gln) c.364G>C (p.Glu122Gln) n.3690G>C | |
| 12 | g.40299209G>T | CA384415868 | LRRK2 | c.3448G>T (p.Glu1150Ter) c.*2357G>T (n.*2357G>T) c.3193G>T (p.Glu1065Ter) c.492G>T n.129G>T c.2245G>T (p.Glu749Ter) c.364G>T (p.Glu122Ter) n.3690G>T | |
| 12 | g.40299210A>C | CA384415871 | LRRK2 | c.3449A>C (p.Glu1150Ala) c.*2358A>C (n.*2358A>C) c.3194A>C (p.Glu1065Ala) c.493A>C n.130A>C c.2246A>C (p.Glu749Ala) c.365A>C (p.Glu122Ala) n.3691A>C | COSMIC COSMIC |
| 12 | g.40299210A>G | CA384415873 | LRRK2 | c.3449A>G (p.Glu1150Gly) c.*2358A>G (n.*2358A>G) c.3194A>G (p.Glu1065Gly) c.493A>G n.130A>G c.2246A>G (p.Glu749Gly) c.365A>G (p.Glu122Gly) n.3691A>G | |
| 12 | g.40299210A>T | CA384415874 | LRRK2 | c.3449A>T (p.Glu1150Val) c.*2358A>T (n.*2358A>T) c.3194A>T (p.Glu1065Val) c.493A>T n.130A>T c.2246A>T (p.Glu749Val) c.365A>T (p.Glu122Val) n.3691A>T | |
| 12 | g.40299211G>A | CA235349450 | LRRK2 | c.3450G>A (p.Glu1150=) c.*2359G>A (n.*2359G>A) c.3195G>A (p.Glu1065=) c.494G>A n.131G>A c.2247G>A (p.Glu749=) c.366G>A (p.Glu122=) n.3692G>A | ClinVar dbSNP |
| 12 | g.40299211G>C | CA384415879 | LRRK2 | c.3450G>C (p.Glu1150Asp) c.*2359G>C (n.*2359G>C) c.3195G>C (p.Glu1065Asp) c.494G>C n.131G>C c.2247G>C (p.Glu749Asp) c.366G>C (p.Glu122Asp) n.3692G>C | |
| 12 | g.40299211G= | CA2030984038 | LRRK2 | c.3450G= (p.Glu1150=) c.*2359G= (n.*2359G=) c.3195G= (p.Glu1065=) c.494G= n.131G= c.2247G= (p.Glu749=) c.366G= (p.Glu122=) n.3692G= | |
| 12 | g.40299211G>T | CA384415876 | LRRK2 | c.3450G>T (p.Glu1150Asp) c.*2359G>T (n.*2359G>T) c.3195G>T (p.Glu1065Asp) c.494G>T n.131G>T c.2247G>T (p.Glu749Asp) c.366G>T (p.Glu122Asp) n.3692G>T | |
| 12 | g.40299212G>A | CA343541 | LRRK2 | c.3451G>A (p.Ala1151Thr) c.*2360G>A (n.*2360G>A) c.3196G>A (p.Ala1066Thr) c.495G>A n.132G>A c.2248G>A (p.Ala750Thr) c.367G>A (p.Ala123Thr) n.3693G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40299212G>C | CA384415881 | LRRK2 | c.3451G>C (p.Ala1151Pro) c.*2360G>C (n.*2360G>C) c.3196G>C (p.Ala1066Pro) c.495G>C n.132G>C c.2248G>C (p.Ala750Pro) c.367G>C (p.Ala123Pro) n.3693G>C | |
| 12 | g.40299212G= | CA2030984045 | LRRK2 | c.3451G= (p.Ala1151=) c.*2360G= (n.*2360G=) c.3196G= (p.Ala1066=) c.495G= n.132G= c.2248G= (p.Ala750=) c.367G= (p.Ala123=) n.3693G= | |
| 12 | g.40299212G>T | CA384415883 | LRRK2 | c.3451G>T (p.Ala1151Ser) c.*2360G>T (n.*2360G>T) c.3196G>T (p.Ala1066Ser) c.495G>T n.132G>T c.2248G>T (p.Ala750Ser) c.367G>T (p.Ala123Ser) n.3693G>T | |
| 12 | g.40299213C>A | CA384415885 | LRRK2 | c.3452C>A (p.Ala1151Asp) c.*2361C>A (n.*2361C>A) c.3197C>A (p.Ala1066Asp) c.496C>A n.133C>A c.2249C>A (p.Ala750Asp) c.368C>A (p.Ala123Asp) n.3694C>A | |
| 12 | g.40299213C>G | CA384415887 | LRRK2 | c.3452C>G (p.Ala1151Gly) c.*2361C>G (n.*2361C>G) c.3197C>G (p.Ala1066Gly) c.496C>G n.133C>G c.2249C>G (p.Ala750Gly) c.368C>G (p.Ala123Gly) n.3694C>G | |
| 12 | g.40299213C>T | CA384415889 | LRRK2 | c.3452C>T (p.Ala1151Val) c.*2361C>T (n.*2361C>T) c.3197C>T (p.Ala1066Val) c.496C>T n.133C>T c.2249C>T (p.Ala750Val) c.368C>T (p.Ala123Val) n.3694C>T | |
| 12 | g.40299214T>A | CA479251376 | LRRK2 | c.3453T>A (p.Ala1151=) c.*2362T>A (n.*2362T>A) c.3198T>A (p.Ala1066=) c.497T>A n.134T>A c.2250T>A (p.Ala750=) c.369T>A (p.Ala123=) n.3695T>A | |
| 12 | g.40299214T>C | CA479251378 | LRRK2 | c.3453T>C (p.Ala1151=) c.*2362T>C (n.*2362T>C) c.3198T>C (p.Ala1066=) c.497T>C n.134T>C c.2250T>C (p.Ala750=) c.369T>C (p.Ala123=) n.3695T>C | |
| 12 | g.40299214T>G | CA479251380 | LRRK2 | c.3453T>G (p.Ala1151=) c.*2362T>G (n.*2362T>G) c.3198T>G (p.Ala1066=) c.497T>G n.134T>G c.2250T>G (p.Ala750=) c.369T>G (p.Ala123=) n.3695T>G | |
| 12 | g.40299215T>A | CA384415895 | LRRK2 | c.3454T>A (p.Cys1152Ser) c.*2363T>A (n.*2363T>A) c.3199T>A (p.Cys1067Ser) c.498T>A n.135T>A c.2251T>A (p.Cys751Ser) c.370T>A (p.Cys124Ser) n.3696T>A | |
| 12 | g.40299215T>C | CA384415891 | LRRK2 | c.3454T>C (p.Cys1152Arg) c.*2363T>C (n.*2363T>C) c.3199T>C (p.Cys1067Arg) c.498T>C n.135T>C c.2251T>C (p.Cys751Arg) c.370T>C (p.Cys124Arg) n.3696T>C | |
| 12 | g.40299215T>G | CA384415893 | LRRK2 | c.3454T>G (p.Cys1152Gly) c.*2363T>G (n.*2363T>G) c.3199T>G (p.Cys1067Gly) c.498T>G n.135T>G c.2251T>G (p.Cys751Gly) c.370T>G (p.Cys124Gly) n.3696T>G | |
| 12 | g.40299216G>A | CA384415897 | LRRK2 | c.3455G>A (p.Cys1152Tyr) c.*2364G>A (n.*2364G>A) c.3200G>A (p.Cys1067Tyr) c.499G>A n.136G>A c.2252G>A (p.Cys751Tyr) c.371G>A (p.Cys124Tyr) n.3697G>A | |
| 12 | g.40299216G>C | CA384415899 | LRRK2 | c.3455G>C (p.Cys1152Ser) c.*2364G>C (n.*2364G>C) c.3200G>C (p.Cys1067Ser) c.499G>C n.136G>C c.2252G>C (p.Cys751Ser) c.371G>C (p.Cys124Ser) n.3697G>C | |
| 12 | g.40299216G= | CA2030984048 | LRRK2 | c.3455G= (p.Cys1152=) c.*2364G= (n.*2364G=) c.3200G= (p.Cys1067=) c.499G= n.136G= c.2252G= (p.Cys751=) c.371G= (p.Cys124=) n.3697G= | |
| 12 | g.40299216G>T | CA384415901 | LRRK2 | c.3455G>T (p.Cys1152Phe) c.*2364G>T (n.*2364G>T) c.3200G>T (p.Cys1067Phe) c.499G>T n.136G>T c.2252G>T (p.Cys751Phe) c.371G>T (p.Cys124Phe) n.3697G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40299217T>A | CA384415903 | LRRK2 | c.3456T>A (p.Cys1152Ter) c.*2365T>A (n.*2365T>A) c.3201T>A (p.Cys1067Ter) c.500T>A n.137T>A c.2253T>A (p.Cys751Ter) c.372T>A (p.Cys124Ter) n.3698T>A | COSMIC COSMIC |
| 12 | g.40299217T>C | CA479251390 | LRRK2 | c.3456T>C (p.Cys1152=) c.*2365T>C (n.*2365T>C) c.3201T>C (p.Cys1067=) c.500T>C n.137T>C c.2253T>C (p.Cys751=) c.372T>C (p.Cys124=) n.3698T>C | ClinVar |
| 12 | g.40299217T>G | CA384415906 | LRRK2 | c.3456T>G (p.Cys1152Trp) c.*2365T>G (n.*2365T>G) c.3201T>G (p.Cys1067Trp) c.500T>G n.137T>G c.2253T>G (p.Cys751Trp) c.372T>G (p.Cys124Trp) n.3698T>G | |
| 12 | g.40299218C>A | CA384415907 | LRRK2 | c.3457C>A (p.Pro1153Thr) c.*2366C>A (n.*2366C>A) c.3202C>A (p.Pro1068Thr) c.501C>A n.138C>A c.2254C>A (p.Pro752Thr) c.373C>A (p.Pro125Thr) n.3699C>A | |
| 12 | g.40299218C>G | CA384415911 | LRRK2 | c.3457C>G (p.Pro1153Ala) c.*2366C>G (n.*2366C>G) c.3202C>G (p.Pro1068Ala) c.501C>G n.138C>G c.2254C>G (p.Pro752Ala) c.373C>G (p.Pro125Ala) n.3699C>G | |
| 12 | g.40299218C>T | CA384415909 | LRRK2 | c.3457C>T (p.Pro1153Ser) c.*2366C>T (n.*2366C>T) c.3202C>T (p.Pro1068Ser) c.501C>T n.138C>T c.2254C>T (p.Pro752Ser) c.373C>T (p.Pro125Ser) n.3699C>T | ClinVar |
| 12 | g.40299219C>A | CA384415913 | LRRK2 | c.3458C>A (p.Pro1153His) c.*2367C>A (n.*2367C>A) c.3203C>A (p.Pro1068His) c.502C>A n.139C>A c.2255C>A (p.Pro752His) c.374C>A (p.Pro125His) n.3700C>A | |
| 12 | g.40299219C>G | CA384415915 | LRRK2 | c.3458C>G (p.Pro1153Arg) c.*2367C>G (n.*2367C>G) c.3203C>G (p.Pro1068Arg) c.502C>G n.139C>G c.2255C>G (p.Pro752Arg) c.374C>G (p.Pro125Arg) n.3700C>G | gnomAD v4 |
| 12 | g.40299219C>T | CA384415917 | LRRK2 | c.3458C>T (p.Pro1153Leu) c.*2367C>T (n.*2367C>T) c.3203C>T (p.Pro1068Leu) c.502C>T n.139C>T c.2255C>T (p.Pro752Leu) c.374C>T (p.Pro125Leu) n.3700C>T | |
| 12 | g.40299220T>A | CA479251401 | LRRK2 | c.3459T>A (p.Pro1153=) c.*2368T>A (n.*2368T>A) c.3204T>A (p.Pro1068=) c.503T>A n.140T>A c.2256T>A (p.Pro752=) c.375T>A (p.Pro125=) n.3701T>A | |
| 12 | g.40299220T>C | CA479251403 | LRRK2 | c.3459T>C (p.Pro1153=) c.*2368T>C (n.*2368T>C) c.3204T>C (p.Pro1068=) c.503T>C n.140T>C c.2256T>C (p.Pro752=) c.375T>C (p.Pro125=) n.3701T>C | |
| 12 | g.40299220T>G | CA479251404 | LRRK2 | c.3459T>G (p.Pro1153=) c.*2368T>G (n.*2368T>G) c.3204T>G (p.Pro1068=) c.503T>G n.140T>G c.2256T>G (p.Pro752=) c.375T>G (p.Pro125=) n.3701T>G | |
| 12 | g.40299221A= | CA2030984053 | LRRK2 | c.3460A= (p.Lys1154=) c.*2369A= (n.*2369A=) c.3205A= (p.Lys1069=) c.504A= n.141A= c.2257A= (p.Lys753=) c.376A= (p.Lys126=) n.3702A= | |
| 12 | g.40299221A>C | CA384415919 | LRRK2 | c.3460A>C (p.Lys1154Gln) c.*2369A>C (n.*2369A>C) c.3205A>C (p.Lys1069Gln) c.504A>C n.141A>C c.2257A>C (p.Lys753Gln) c.376A>C (p.Lys126Gln) n.3702A>C | ClinVar |
| 12 | g.40299221A>G | CA6513903 | LRRK2 | c.3460A>G (p.Lys1154Glu) c.*2369A>G (n.*2369A>G) c.3205A>G (p.Lys1069Glu) c.504A>G n.141A>G c.2257A>G (p.Lys753Glu) c.376A>G (p.Lys126Glu) n.3702A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40299221A>T | CA384415920 | LRRK2 | c.3460A>T (p.Lys1154Ter) c.*2369A>T (n.*2369A>T) c.3205A>T (p.Lys1069Ter) c.504A>T n.141A>T c.2257A>T (p.Lys753Ter) c.376A>T (p.Lys126Ter) n.3702A>T | |
| 12 | g.40299222A>C | CA384415921 | LRRK2 | c.3461A>C (p.Lys1154Thr) c.*2370A>C (n.*2370A>C) c.3206A>C (p.Lys1069Thr) c.505A>C n.142A>C c.2258A>C (p.Lys753Thr) c.377A>C (p.Lys126Thr) n.3703A>C | |
| 12 | g.40299222A>G | CA384415922 | LRRK2 | c.3461A>G (p.Lys1154Arg) c.*2370A>G (n.*2370A>G) c.3206A>G (p.Lys1069Arg) c.505A>G n.142A>G c.2258A>G (p.Lys753Arg) c.377A>G (p.Lys126Arg) n.3703A>G | |
| 12 | g.40299222A>T | CA384415923 | LRRK2 | c.3461A>T (p.Lys1154Ile) c.*2370A>T (n.*2370A>T) c.3206A>T (p.Lys1069Ile) c.505A>T n.142A>T c.2258A>T (p.Lys753Ile) c.377A>T (p.Lys126Ile) n.3703A>T |