Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.40363445G>A | CA384413248 | LRRK2 | c.7072G>A (p.Val2358Met) c.869G>A c.*5981G>A (n.*5981G>A) c.2846G>A c.862G>A c.2517G>A (n.2517G>A) c.4159G>A c.2239G>A (n.2239G>A) c.2529G>A c.6817G>A (p.Val2273Met) n.3056G>A c.2755G>A (p.Val919Met) n.279G>A c.4368G>A n.3753G>A c.5869G>A (p.Val1957Met) n.485-8618C>T c.3988G>A (p.Val1330Met) c.3334G>A (p.Val1112Met) | |
12 | g.40363445G>C | CA384413250 | LRRK2 | c.7072G>C (p.Val2358Leu) c.869G>C c.*5981G>C (n.*5981G>C) c.2846G>C c.862G>C c.2517G>C (n.2517G>C) c.4159G>C c.2239G>C (n.2239G>C) c.2529G>C c.6817G>C (p.Val2273Leu) n.3056G>C c.2755G>C (p.Val919Leu) n.279G>C c.4368G>C n.3753G>C c.5869G>C (p.Val1957Leu) n.485-8618C>G c.3988G>C (p.Val1330Leu) c.3334G>C (p.Val1112Leu) | |
12 | g.40363445G>T | CA384413252 | LRRK2 | c.7072G>T (p.Val2358Leu) c.869G>T c.*5981G>T (n.*5981G>T) c.2846G>T c.862G>T c.2517G>T (n.2517G>T) c.4159G>T c.2239G>T (n.2239G>T) c.2529G>T c.6817G>T (p.Val2273Leu) n.3056G>T c.2755G>T (p.Val919Leu) n.279G>T c.4368G>T n.3753G>T c.5869G>T (p.Val1957Leu) n.485-8618C>A c.3988G>T (p.Val1330Leu) c.3334G>T (p.Val1112Leu) | |
12 | g.40363446T>A | CA384413254 | LRRK2 | c.7073T>A (p.Val2358Glu) c.870T>A c.*5982T>A (n.*5982T>A) c.2847T>A c.863T>A c.2518T>A (n.2518T>A) c.4160T>A c.2240T>A (n.2240T>A) c.2530T>A c.6818T>A (p.Val2273Glu) n.3057T>A c.2756T>A (p.Val919Glu) n.280T>A c.4369T>A n.3754T>A c.5870T>A (p.Val1957Glu) n.485-8619A>T c.3989T>A (p.Val1330Glu) c.3335T>A (p.Val1112Glu) | |
12 | g.40363446T>C | CA384413255 | LRRK2 | c.7073T>C (p.Val2358Ala) c.870T>C c.*5982T>C (n.*5982T>C) c.2847T>C c.863T>C c.2518T>C (n.2518T>C) c.4160T>C c.2240T>C (n.2240T>C) c.2530T>C c.6818T>C (p.Val2273Ala) n.3057T>C c.2756T>C (p.Val919Ala) n.280T>C c.4369T>C n.3754T>C c.5870T>C (p.Val1957Ala) n.485-8619A>G c.3989T>C (p.Val1330Ala) c.3335T>C (p.Val1112Ala) | |
12 | g.40363446T>G | CA384413257 | LRRK2 | c.7073T>G (p.Val2358Gly) c.870T>G c.*5982T>G (n.*5982T>G) c.2847T>G c.863T>G c.2518T>G (n.2518T>G) c.4160T>G c.2240T>G (n.2240T>G) c.2530T>G c.6818T>G (p.Val2273Gly) n.3057T>G c.2756T>G (p.Val919Gly) n.280T>G c.4369T>G n.3754T>G c.5870T>G (p.Val1957Gly) n.485-8619A>C c.3989T>G (p.Val1330Gly) c.3335T>G (p.Val1112Gly) | |
12 | g.40363447G>A | CA479247285 | LRRK2 | c.7074G>A (p.Val2358=) c.871G>A c.*5983G>A (n.*5983G>A) c.2848G>A c.864G>A c.2519G>A (n.2519G>A) c.4161G>A c.2241G>A (n.2241G>A) c.2531G>A c.6819G>A (p.Val2273=) n.3058G>A c.2757G>A (p.Val919=) n.281G>A c.4370G>A n.3755G>A c.5871G>A (p.Val1957=) n.485-8620C>T c.3990G>A (p.Val1330=) c.3336G>A (p.Val1112=) | gnomAD v4 |
12 | g.40363447G>C | CA479247283 | LRRK2 | c.7074G>C (p.Val2358=) c.871G>C c.*5983G>C (n.*5983G>C) c.2848G>C c.864G>C c.2519G>C (n.2519G>C) c.4161G>C c.2241G>C (n.2241G>C) c.2531G>C c.6819G>C (p.Val2273=) n.3058G>C c.2757G>C (p.Val919=) n.281G>C c.4370G>C n.3755G>C c.5871G>C (p.Val1957=) n.485-8620C>G c.3990G>C (p.Val1330=) c.3336G>C (p.Val1112=) | dbSNP |
12 | g.40363447G= | CA2031025848 | LRRK2 | c.7074G= (p.Val2358=) c.871G= c.*5983G= (n.*5983G=) c.2848G= c.864G= c.2519G= (n.2519G=) c.4161G= c.2241G= (n.2241G=) c.2531G= c.6819G= (p.Val2273=) n.3058G= c.2757G= (p.Val919=) n.281G= c.4370G= n.3755G= c.5871G= (p.Val1957=) n.485-8620C= c.3990G= (p.Val1330=) c.3336G= (p.Val1112=) | |
12 | g.40363447G>T | CA479247281 | LRRK2 | c.7074G>T (p.Val2358=) c.871G>T c.*5983G>T (n.*5983G>T) c.2848G>T c.864G>T c.2519G>T (n.2519G>T) c.4161G>T c.2241G>T (n.2241G>T) c.2531G>T c.6819G>T (p.Val2273=) n.3058G>T c.2757G>T (p.Val919=) n.281G>T c.4370G>T n.3755G>T c.5871G>T (p.Val1957=) n.485-8620C>A c.3990G>T (p.Val1330=) c.3336G>T (p.Val1112=) | ClinVar |
12 | g.40363448G>A | CA384413258 | LRRK2 | c.7075G>A (p.Val2359Ile) c.872G>A c.*5984G>A (n.*5984G>A) c.2849G>A c.865G>A c.2520G>A (n.2520G>A) c.4162G>A c.2242G>A (n.2242G>A) c.2532G>A c.6820G>A (p.Val2274Ile) n.3059G>A c.2758G>A (p.Val920Ile) n.282G>A c.4371G>A n.3756G>A c.5872G>A (p.Val1958Ile) n.485-8621C>T c.3991G>A (p.Val1331Ile) c.3337G>A (p.Val1113Ile) | |
12 | g.40363448G>C | CA384413259 | LRRK2 | c.7075G>C (p.Val2359Leu) c.872G>C c.*5984G>C (n.*5984G>C) c.2849G>C c.865G>C c.2520G>C (n.2520G>C) c.4162G>C c.2242G>C (n.2242G>C) c.2532G>C c.6820G>C (p.Val2274Leu) n.3059G>C c.2758G>C (p.Val920Leu) n.282G>C c.4371G>C n.3756G>C c.5872G>C (p.Val1958Leu) n.485-8621C>G c.3991G>C (p.Val1331Leu) c.3337G>C (p.Val1113Leu) | |
12 | g.40363448G>T | CA384413261 | LRRK2 | c.7075G>T (p.Val2359Leu) c.872G>T c.*5984G>T (n.*5984G>T) c.2849G>T c.865G>T c.2520G>T (n.2520G>T) c.4162G>T c.2242G>T (n.2242G>T) c.2532G>T c.6820G>T (p.Val2274Leu) n.3059G>T c.2758G>T (p.Val920Leu) n.282G>T c.4371G>T n.3756G>T c.5872G>T (p.Val1958Leu) n.485-8621C>A c.3991G>T (p.Val1331Leu) c.3337G>T (p.Val1113Leu) | |
12 | g.40363449T>A | CA384413265 | LRRK2 | c.7076T>A (p.Val2359Glu) c.873T>A c.*5985T>A (n.*5985T>A) c.2850T>A c.866T>A c.2521T>A (n.2521T>A) c.4163T>A c.2243T>A (n.2243T>A) c.2533T>A c.6821T>A (p.Val2274Glu) n.3060T>A c.2759T>A (p.Val920Glu) n.283T>A c.4372T>A n.3757T>A c.5873T>A (p.Val1958Glu) n.485-8622A>T c.3992T>A (p.Val1331Glu) c.3338T>A (p.Val1113Glu) | |
12 | g.40363449T>C | CA235359609 | LRRK2 | c.7076T>C (p.Val2359Ala) c.873T>C c.*5985T>C (n.*5985T>C) c.2850T>C c.866T>C c.2521T>C (n.2521T>C) c.4163T>C c.2243T>C (n.2243T>C) c.2533T>C c.6821T>C (p.Val2274Ala) n.3060T>C c.2759T>C (p.Val920Ala) n.283T>C c.4372T>C n.3757T>C c.5873T>C (p.Val1958Ala) n.485-8622A>G c.3992T>C (p.Val1331Ala) c.3338T>C (p.Val1113Ala) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.40363449T>G | CA384413264 | LRRK2 | c.7076T>G (p.Val2359Gly) c.873T>G c.*5985T>G (n.*5985T>G) c.2850T>G c.866T>G c.2521T>G (n.2521T>G) c.4163T>G c.2243T>G (n.2243T>G) c.2533T>G c.6821T>G (p.Val2274Gly) n.3060T>G c.2759T>G (p.Val920Gly) n.283T>G c.4372T>G n.3757T>G c.5873T>G (p.Val1958Gly) n.485-8622A>C c.3992T>G (p.Val1331Gly) c.3338T>G (p.Val1113Gly) | |
12 | g.40363449T= | CA2031025851 | LRRK2 | c.7076T= (p.Val2359=) c.873T= c.*5985T= (n.*5985T=) c.2850T= c.866T= c.2521T= (n.2521T=) c.4163T= c.2243T= (n.2243T=) c.2533T= c.6821T= (p.Val2274=) n.3060T= c.2759T= (p.Val920=) n.283T= c.4372T= n.3757T= c.5873T= (p.Val1958=) n.485-8622A= c.3992T= (p.Val1331=) c.3338T= (p.Val1113=) | |
12 | g.40363450A>C | CA479247294 | LRRK2 | c.7077A>C (p.Val2359=) c.874A>C c.*5986A>C (n.*5986A>C) c.2851A>C c.867A>C c.2522A>C (n.2522A>C) c.4164A>C c.2244A>C (n.2244A>C) c.2534A>C c.6822A>C (p.Val2274=) n.3061A>C c.2760A>C (p.Val920=) n.284A>C c.4373A>C n.3758A>C c.5874A>C (p.Val1958=) n.485-8623T>G c.3993A>C (p.Val1331=) c.3339A>C (p.Val1113=) | |
12 | g.40363450A>G | CA479247295 | LRRK2 | c.7077A>G (p.Val2359=) c.874A>G c.*5986A>G (n.*5986A>G) c.2851A>G c.867A>G c.2522A>G (n.2522A>G) c.4164A>G c.2244A>G (n.2244A>G) c.2534A>G c.6822A>G (p.Val2274=) n.3061A>G c.2760A>G (p.Val920=) n.284A>G c.4373A>G n.3758A>G c.5874A>G (p.Val1958=) n.485-8623T>C c.3993A>G (p.Val1331=) c.3339A>G (p.Val1113=) | ClinVar gnomAD v4 |
12 | g.40363450A>T | CA479247296 | LRRK2 | c.7077A>T (p.Val2359=) c.874A>T c.*5986A>T (n.*5986A>T) c.2851A>T c.867A>T c.2522A>T (n.2522A>T) c.4164A>T c.2244A>T (n.2244A>T) c.2534A>T c.6822A>T (p.Val2274=) n.3061A>T c.2760A>T (p.Val920=) n.284A>T c.4373A>T n.3758A>T c.5874A>T (p.Val1958=) n.485-8623T>A c.3993A>T (p.Val1331=) c.3339A>T (p.Val1113=) | |
12 | g.40363451G>A | CA384413267 | LRRK2 | c.7078G>A (p.Asp2360Asn) c.875G>A c.*5987G>A (n.*5987G>A) c.2852G>A c.868G>A c.2523G>A (n.2523G>A) c.4165G>A c.2245G>A (n.2245G>A) c.2535G>A c.6823G>A (p.Asp2275Asn) n.3062G>A c.2761G>A (p.Asp921Asn) n.285G>A c.4374G>A n.3759G>A c.5875G>A (p.Asp1959Asn) n.485-8624C>T c.3994G>A (p.Asp1332Asn) c.3340G>A (p.Asp1114Asn) | |
12 | g.40363451G>C | CA384413269 | LRRK2 | c.7078G>C (p.Asp2360His) c.875G>C c.*5987G>C (n.*5987G>C) c.2852G>C c.868G>C c.2523G>C (n.2523G>C) c.4165G>C c.2245G>C (n.2245G>C) c.2535G>C c.6823G>C (p.Asp2275His) n.3062G>C c.2761G>C (p.Asp921His) n.285G>C c.4374G>C n.3759G>C c.5875G>C (p.Asp1959His) n.485-8624C>G c.3994G>C (p.Asp1332His) c.3340G>C (p.Asp1114His) | |
12 | g.40363451G>T | CA384413271 | LRRK2 | c.7078G>T (p.Asp2360Tyr) c.875G>T c.*5987G>T (n.*5987G>T) c.2852G>T c.868G>T c.2523G>T (n.2523G>T) c.4165G>T c.2245G>T (n.2245G>T) c.2535G>T c.6823G>T (p.Asp2275Tyr) n.3062G>T c.2761G>T (p.Asp921Tyr) n.285G>T c.4374G>T n.3759G>T c.5875G>T (p.Asp1959Tyr) n.485-8624C>A c.3994G>T (p.Asp1332Tyr) c.3340G>T (p.Asp1114Tyr) | |
12 | g.40363452A= | CA2031025853 | LRRK2 | c.7079A= (p.Asp2360=) c.876A= c.*5988A= (n.*5988A=) c.2853A= c.869A= c.2524A= (n.2524A=) c.4166A= c.2246A= (n.2246A=) c.2536A= c.6824A= (p.Asp2275=) n.3063A= c.2762A= (p.Asp921=) n.286A= c.4375A= n.3760A= c.5876A= (p.Asp1959=) n.485-8625T= c.3995A= (p.Asp1332=) c.3341A= (p.Asp1114=) | |
12 | g.40363452A>C | CA384413272 | LRRK2 | c.7079A>C (p.Asp2360Ala) c.876A>C c.*5988A>C (n.*5988A>C) c.2853A>C c.869A>C c.2524A>C (n.2524A>C) c.4166A>C c.2246A>C (n.2246A>C) c.2536A>C c.6824A>C (p.Asp2275Ala) n.3063A>C c.2762A>C (p.Asp921Ala) n.286A>C c.4375A>C n.3760A>C c.5876A>C (p.Asp1959Ala) n.485-8625T>G c.3995A>C (p.Asp1332Ala) c.3341A>C (p.Asp1114Ala) | |
12 | g.40363452A>G | CA384413273 | LRRK2 | c.7079A>G (p.Asp2360Gly) c.876A>G c.*5988A>G (n.*5988A>G) c.2853A>G c.869A>G c.2524A>G (n.2524A>G) c.4166A>G c.2246A>G (n.2246A>G) c.2536A>G c.6824A>G (p.Asp2275Gly) n.3063A>G c.2762A>G (p.Asp921Gly) n.286A>G c.4375A>G n.3760A>G c.5876A>G (p.Asp1959Gly) n.485-8625T>C c.3995A>G (p.Asp1332Gly) c.3341A>G (p.Asp1114Gly) | ClinVar dbSNP gnomAD v4 |
12 | g.40363452A>T | CA384413275 | LRRK2 | c.7079A>T (p.Asp2360Val) c.876A>T c.*5988A>T (n.*5988A>T) c.2853A>T c.869A>T c.2524A>T (n.2524A>T) c.4166A>T c.2246A>T (n.2246A>T) c.2536A>T c.6824A>T (p.Asp2275Val) n.3063A>T c.2762A>T (p.Asp921Val) n.286A>T c.4375A>T n.3760A>T c.5876A>T (p.Asp1959Val) n.485-8625T>A c.3995A>T (p.Asp1332Val) c.3341A>T (p.Asp1114Val) | |
12 | g.40363453C>A | CA384413276 | LRRK2 | c.7080C>A (p.Asp2360Glu) c.877C>A c.*5989C>A (n.*5989C>A) c.2854C>A c.870C>A c.2525C>A (n.2525C>A) c.4167C>A c.2247C>A (n.2247C>A) c.2537C>A c.6825C>A (p.Asp2275Glu) n.3064C>A c.2763C>A (p.Asp921Glu) n.287C>A c.4376C>A n.3761C>A c.5877C>A (p.Asp1959Glu) n.485-8626G>T c.3996C>A (p.Asp1332Glu) c.3342C>A (p.Asp1114Glu) | |
12 | g.40363453C= | CA2031025859 | LRRK2 | c.7080C= (p.Asp2360=) c.877C= c.*5989C= (n.*5989C=) c.2854C= c.870C= c.2525C= (n.2525C=) c.4167C= c.2247C= (n.2247C=) c.2537C= c.6825C= (p.Asp2275=) n.3064C= c.2763C= (p.Asp921=) n.287C= c.4376C= n.3761C= c.5877C= (p.Asp1959=) n.485-8626G= c.3996C= (p.Asp1332=) c.3342C= (p.Asp1114=) | |
12 | g.40363453C>G | CA384413278 | LRRK2 | c.7080C>G (p.Asp2360Glu) c.877C>G c.*5989C>G (n.*5989C>G) c.2854C>G c.870C>G c.2525C>G (n.2525C>G) c.4167C>G c.2247C>G (n.2247C>G) c.2537C>G c.6825C>G (p.Asp2275Glu) n.3064C>G c.2763C>G (p.Asp921Glu) n.287C>G c.4376C>G n.3761C>G c.5877C>G (p.Asp1959Glu) n.485-8626G>C c.3996C>G (p.Asp1332Glu) c.3342C>G (p.Asp1114Glu) | |
12 | g.40363453C>T | CA479247306 | LRRK2 | c.7080C>T (p.Asp2360=) c.877C>T c.*5989C>T (n.*5989C>T) c.2854C>T c.870C>T c.2525C>T (n.2525C>T) c.4167C>T c.2247C>T (n.2247C>T) c.2537C>T c.6825C>T (p.Asp2275=) n.3064C>T c.2763C>T (p.Asp921=) n.287C>T c.4376C>T n.3761C>T c.5877C>T (p.Asp1959=) n.485-8626G>A c.3996C>T (p.Asp1332=) c.3342C>T (p.Asp1114=) | ClinVar dbSNP gnomAD v2 |
12 | g.40363454A= | CA2031025862 | LRRK2 | c.7081A= (p.Thr2361=) c.878A= c.*5990A= (n.*5990A=) c.2855A= c.871A= c.2526A= (n.2526A=) c.4168A= c.2248A= (n.2248A=) c.2538A= c.6826A= (p.Thr2276=) n.3065A= c.2764A= (p.Thr922=) n.288A= c.4377A= n.3762A= c.5878A= (p.Thr1960=) n.485-8627T= c.3997A= (p.Thr1333=) c.3343A= (p.Thr1115=) | |
12 | g.40363454A>C | CA384413279 | LRRK2 | c.7081A>C (p.Thr2361Pro) c.878A>C c.*5990A>C (n.*5990A>C) c.2855A>C c.871A>C c.2526A>C (n.2526A>C) c.4168A>C c.2248A>C (n.2248A>C) c.2538A>C c.6826A>C (p.Thr2276Pro) n.3065A>C c.2764A>C (p.Thr922Pro) n.288A>C c.4377A>C n.3762A>C c.5878A>C (p.Thr1960Pro) n.485-8627T>G c.3997A>C (p.Thr1333Pro) c.3343A>C (p.Thr1115Pro) | |
12 | g.40363454A>G | CA6514847 | LRRK2 | c.7081A>G (p.Thr2361Ala) c.878A>G c.*5990A>G (n.*5990A>G) c.2855A>G c.871A>G c.2526A>G (n.2526A>G) c.4168A>G c.2248A>G (n.2248A>G) c.2538A>G c.6826A>G (p.Thr2276Ala) n.3065A>G c.2764A>G (p.Thr922Ala) n.288A>G c.4377A>G n.3762A>G c.5878A>G (p.Thr1960Ala) n.485-8627T>C c.3997A>G (p.Thr1333Ala) c.3343A>G (p.Thr1115Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.40363454A>T | CA384413281 | LRRK2 | c.7081A>T (p.Thr2361Ser) c.878A>T c.*5990A>T (n.*5990A>T) c.2855A>T c.871A>T c.2526A>T (n.2526A>T) c.4168A>T c.2248A>T (n.2248A>T) c.2538A>T c.6826A>T (p.Thr2276Ser) n.3065A>T c.2764A>T (p.Thr922Ser) n.288A>T c.4377A>T n.3762A>T c.5878A>T (p.Thr1960Ser) n.485-8627T>A c.3997A>T (p.Thr1333Ser) c.3343A>T (p.Thr1115Ser) | |
12 | g.40363455C>A | CA384413285 | LRRK2 | c.7082C>A (p.Thr2361Asn) c.879C>A c.*5991C>A (n.*5991C>A) c.2856C>A c.872C>A c.2527C>A (n.2527C>A) c.4169C>A c.2249C>A (n.2249C>A) c.2539C>A c.6827C>A (p.Thr2276Asn) n.3066C>A c.2765C>A (p.Thr922Asn) n.289C>A c.4378C>A n.3763C>A c.5879C>A (p.Thr1960Asn) n.485-8628G>T c.3998C>A (p.Thr1333Asn) c.3344C>A (p.Thr1115Asn) | |
12 | g.40363455C>G | CA384413282 | LRRK2 | c.7082C>G (p.Thr2361Ser) c.879C>G c.*5991C>G (n.*5991C>G) c.2856C>G c.872C>G c.2527C>G (n.2527C>G) c.4169C>G c.2249C>G (n.2249C>G) c.2539C>G c.6827C>G (p.Thr2276Ser) n.3066C>G c.2765C>G (p.Thr922Ser) n.289C>G c.4378C>G n.3763C>G c.5879C>G (p.Thr1960Ser) n.485-8628G>C c.3998C>G (p.Thr1333Ser) c.3344C>G (p.Thr1115Ser) | gnomAD v4 |
12 | g.40363455C>T | CA384413284 | LRRK2 | c.7082C>T (p.Thr2361Ile) c.879C>T c.*5991C>T (n.*5991C>T) c.2856C>T c.872C>T c.2527C>T (n.2527C>T) c.4169C>T c.2249C>T (n.2249C>T) c.2539C>T c.6827C>T (p.Thr2276Ile) n.3066C>T c.2765C>T (p.Thr922Ile) n.289C>T c.4378C>T n.3763C>T c.5879C>T (p.Thr1960Ile) n.485-8628G>A c.3998C>T (p.Thr1333Ile) c.3344C>T (p.Thr1115Ile) | |
12 | g.40363456T>A | CA235359614 | LRRK2 | c.7083T>A (p.Thr2361=) c.880T>A c.*5992T>A (n.*5992T>A) c.2857T>A c.873T>A c.2528T>A (n.2528T>A) c.4170T>A c.2250T>A (n.2250T>A) c.2540T>A c.6828T>A (p.Thr2276=) n.3067T>A c.2766T>A (p.Thr922=) n.290T>A c.4379T>A n.3764T>A c.5880T>A (p.Thr1960=) n.485-8629A>T c.3999T>A (p.Thr1333=) c.3345T>A (p.Thr1115=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.40363456T>C | CA479247317 | LRRK2 | c.7083T>C (p.Thr2361=) c.880T>C c.*5992T>C (n.*5992T>C) c.2857T>C c.873T>C c.2528T>C (n.2528T>C) c.4170T>C c.2250T>C (n.2250T>C) c.2540T>C c.6828T>C (p.Thr2276=) n.3067T>C c.2766T>C (p.Thr922=) n.290T>C c.4379T>C n.3764T>C c.5880T>C (p.Thr1960=) n.485-8629A>G c.3999T>C (p.Thr1333=) c.3345T>C (p.Thr1115=) | |
12 | g.40363456T>G | CA479247318 | LRRK2 | c.7083T>G (p.Thr2361=) c.880T>G c.*5992T>G (n.*5992T>G) c.2857T>G c.873T>G c.2528T>G (n.2528T>G) c.4170T>G c.2250T>G (n.2250T>G) c.2540T>G c.6828T>G (p.Thr2276=) n.3067T>G c.2766T>G (p.Thr922=) n.290T>G c.4379T>G n.3764T>G c.5880T>G (p.Thr1960=) n.485-8629A>C c.3999T>G (p.Thr1333=) c.3345T>G (p.Thr1115=) | |
12 | g.40363456T= | CA2031025868 | LRRK2 | c.7083T= (p.Thr2361=) c.880T= c.*5992T= (n.*5992T=) c.2857T= c.873T= c.2528T= (n.2528T=) c.4170T= c.2250T= (n.2250T=) c.2540T= c.6828T= (p.Thr2276=) n.3067T= c.2766T= (p.Thr922=) n.290T= c.4379T= n.3764T= c.5880T= (p.Thr1960=) n.485-8629A= c.3999T= (p.Thr1333=) c.3345T= (p.Thr1115=) | |
12 | g.40363457G>A | CA384413287 | LRRK2 | c.7084G>A (p.Ala2362Thr) c.881G>A c.*5993G>A (n.*5993G>A) c.2858G>A c.874G>A c.2529G>A (n.2529G>A) c.4171G>A c.2251G>A (n.2251G>A) c.2541G>A c.6829G>A (p.Ala2277Thr) n.3068G>A c.2767G>A (p.Ala923Thr) n.291G>A c.4380G>A n.3765G>A c.5881G>A (p.Ala1961Thr) n.485-8630C>T c.4000G>A (p.Ala1334Thr) c.3346G>A (p.Ala1116Thr) | |
12 | g.40363457G>C | CA384413290 | LRRK2 | c.7084G>C (p.Ala2362Pro) c.881G>C c.*5993G>C (n.*5993G>C) c.2858G>C c.874G>C c.2529G>C (n.2529G>C) c.4171G>C c.2251G>C (n.2251G>C) c.2541G>C c.6829G>C (p.Ala2277Pro) n.3068G>C c.2767G>C (p.Ala923Pro) n.291G>C c.4380G>C n.3765G>C c.5881G>C (p.Ala1961Pro) n.485-8630C>G c.4000G>C (p.Ala1334Pro) c.3346G>C (p.Ala1116Pro) | |
12 | g.40363457G>T | CA384413288 | LRRK2 | c.7084G>T (p.Ala2362Ser) c.881G>T c.*5993G>T (n.*5993G>T) c.2858G>T c.874G>T c.2529G>T (n.2529G>T) c.4171G>T c.2251G>T (n.2251G>T) c.2541G>T c.6829G>T (p.Ala2277Ser) n.3068G>T c.2767G>T (p.Ala923Ser) n.291G>T c.4380G>T n.3765G>T c.5881G>T (p.Ala1961Ser) n.485-8630C>A c.4000G>T (p.Ala1334Ser) c.3346G>T (p.Ala1116Ser) | |
12 | g.40363458C>A | CA384413292 | LRRK2 | c.7085C>A (p.Ala2362Asp) c.882C>A c.*5994C>A (n.*5994C>A) c.2859C>A c.875C>A c.2530C>A (n.2530C>A) c.4172C>A c.2252C>A (n.2252C>A) c.2542C>A c.6830C>A (p.Ala2277Asp) n.3069C>A c.2768C>A (p.Ala923Asp) n.292C>A c.4381C>A n.3766C>A c.5882C>A (p.Ala1961Asp) n.485-8631G>T c.4001C>A (p.Ala1334Asp) c.3347C>A (p.Ala1116Asp) | |
12 | g.40363458C= | CA2031025872 | LRRK2 | c.7085C= (p.Ala2362=) c.882C= c.*5994C= (n.*5994C=) c.2859C= c.875C= c.2530C= (n.2530C=) c.4172C= c.2252C= (n.2252C=) c.2542C= c.6830C= (p.Ala2277=) n.3069C= c.2768C= (p.Ala923=) n.292C= c.4381C= n.3766C= c.5882C= (p.Ala1961=) n.485-8631G= c.4001C= (p.Ala1334=) c.3347C= (p.Ala1116=) | |
12 | g.40363458C>G | CA384413294 | LRRK2 | c.7085C>G (p.Ala2362Gly) c.882C>G c.*5994C>G (n.*5994C>G) c.2859C>G c.875C>G c.2530C>G (n.2530C>G) c.4172C>G c.2252C>G (n.2252C>G) c.2542C>G c.6830C>G (p.Ala2277Gly) n.3069C>G c.2768C>G (p.Ala923Gly) n.292C>G c.4381C>G n.3766C>G c.5882C>G (p.Ala1961Gly) n.485-8631G>C c.4001C>G (p.Ala1334Gly) c.3347C>G (p.Ala1116Gly) | ClinVar |
12 | g.40363458C>T | CA235359619 | LRRK2 | c.7085C>T (p.Ala2362Val) c.882C>T c.*5994C>T (n.*5994C>T) c.2859C>T c.875C>T c.2530C>T (n.2530C>T) c.4172C>T c.2252C>T (n.2252C>T) c.2542C>T c.6830C>T (p.Ala2277Val) n.3069C>T c.2768C>T (p.Ala923Val) n.292C>T c.4381C>T n.3766C>T c.5882C>T (p.Ala1961Val) n.485-8631G>A c.4001C>T (p.Ala1334Val) c.3347C>T (p.Ala1116Val) | dbSNP gnomAD v4 |
12 | g.40363459T>A | CA479247332 | LRRK2 | c.7086T>A (p.Ala2362=) c.883T>A c.*5995T>A (n.*5995T>A) c.2860T>A c.876T>A c.2531T>A (n.2531T>A) c.4173T>A c.2253T>A (n.2253T>A) c.2543T>A c.6831T>A (p.Ala2277=) n.3070T>A c.2769T>A (p.Ala923=) n.293T>A c.4382T>A n.3767T>A c.5883T>A (p.Ala1961=) n.485-8632A>T c.4002T>A (p.Ala1334=) c.3348T>A (p.Ala1116=) | |
12 | g.40363459T>C | CA479247333 | LRRK2 | c.7086T>C (p.Ala2362=) c.883T>C c.*5995T>C (n.*5995T>C) c.2860T>C c.876T>C c.2531T>C (n.2531T>C) c.4173T>C c.2253T>C (n.2253T>C) c.2543T>C c.6831T>C (p.Ala2277=) n.3070T>C c.2769T>C (p.Ala923=) n.293T>C c.4382T>C n.3767T>C c.5883T>C (p.Ala1961=) n.485-8632A>G c.4002T>C (p.Ala1334=) c.3348T>C (p.Ala1116=) | |
12 | g.40363459T>G | CA479247335 | LRRK2 | c.7086T>G (p.Ala2362=) c.883T>G c.*5995T>G (n.*5995T>G) c.2860T>G c.876T>G c.2531T>G (n.2531T>G) c.4173T>G c.2253T>G (n.2253T>G) c.2543T>G c.6831T>G (p.Ala2277=) n.3070T>G c.2769T>G (p.Ala923=) n.293T>G c.4382T>G n.3767T>G c.5883T>G (p.Ala1961=) n.485-8632A>C c.4002T>G (p.Ala1334=) c.3348T>G (p.Ala1116=) | |
12 | g.40363460C>A | CA384413297 | LRRK2 | c.7087C>A (p.Leu2363Ile) c.884C>A c.*5996C>A (n.*5996C>A) c.2861C>A c.877C>A c.2532C>A (n.2532C>A) c.4174C>A c.2254C>A (n.2254C>A) c.2544C>A c.6832C>A (p.Leu2278Ile) n.3071C>A c.2770C>A (p.Leu924Ile) n.294C>A c.4383C>A n.3768C>A c.5884C>A (p.Leu1962Ile) n.485-8633G>T c.4003C>A (p.Leu1335Ile) c.3349C>A (p.Leu1117Ile) | |
12 | g.40363460C= | CA2031025880 | LRRK2 | c.7087C= (p.Leu2363=) c.884C= c.*5996C= (n.*5996C=) c.2861C= c.877C= c.2532C= (n.2532C=) c.4174C= c.2254C= (n.2254C=) c.2544C= c.6832C= (p.Leu2278=) n.3071C= c.2770C= (p.Leu924=) n.294C= c.4383C= n.3768C= c.5884C= (p.Leu1962=) n.485-8633G= c.4003C= (p.Leu1335=) c.3349C= (p.Leu1117=) | |
12 | g.40363460C>G | CA384413298 | LRRK2 | c.7087C>G (p.Leu2363Val) c.884C>G c.*5996C>G (n.*5996C>G) c.2861C>G c.877C>G c.2532C>G (n.2532C>G) c.4174C>G c.2254C>G (n.2254C>G) c.2544C>G c.6832C>G (p.Leu2278Val) n.3071C>G c.2770C>G (p.Leu924Val) n.294C>G c.4383C>G n.3768C>G c.5884C>G (p.Leu1962Val) n.485-8633G>C c.4003C>G (p.Leu1335Val) c.3349C>G (p.Leu1117Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
12 | g.40363460C>T | CA384413300 | LRRK2 | c.7087C>T (p.Leu2363Phe) c.884C>T c.*5996C>T (n.*5996C>T) c.2861C>T c.877C>T c.2532C>T (n.2532C>T) c.4174C>T c.2254C>T (n.2254C>T) c.2544C>T c.6832C>T (p.Leu2278Phe) n.3071C>T c.2770C>T (p.Leu924Phe) n.294C>T c.4383C>T n.3768C>T c.5884C>T (p.Leu1962Phe) n.485-8633G>A c.4003C>T (p.Leu1335Phe) c.3349C>T (p.Leu1117Phe) | |
12 | g.40363461T>A | CA384413301 | LRRK2 | c.7088T>A (p.Leu2363His) c.885T>A c.*5997T>A (n.*5997T>A) c.2862T>A c.878T>A c.2533T>A (n.2533T>A) c.4175T>A c.2255T>A (n.2255T>A) c.2545T>A c.6833T>A (p.Leu2278His) n.3072T>A c.2771T>A (p.Leu924His) n.295T>A c.4384T>A n.3769T>A c.5885T>A (p.Leu1962His) n.485-8634A>T c.4004T>A (p.Leu1335His) c.3350T>A (p.Leu1117His) | |
12 | g.40363461T>C | CA384413302 | LRRK2 | c.7088T>C (p.Leu2363Pro) c.885T>C c.*5997T>C (n.*5997T>C) c.2862T>C c.878T>C c.2533T>C (n.2533T>C) c.4175T>C c.2255T>C (n.2255T>C) c.2545T>C c.6833T>C (p.Leu2278Pro) n.3072T>C c.2771T>C (p.Leu924Pro) n.295T>C c.4384T>C n.3769T>C c.5885T>C (p.Leu1962Pro) n.485-8634A>G c.4004T>C (p.Leu1335Pro) c.3350T>C (p.Leu1117Pro) | |
12 | g.40363461T>G | CA384413304 | LRRK2 | c.7088T>G (p.Leu2363Arg) c.885T>G c.*5997T>G (n.*5997T>G) c.2862T>G c.878T>G c.2533T>G (n.2533T>G) c.4175T>G c.2255T>G (n.2255T>G) c.2545T>G c.6833T>G (p.Leu2278Arg) n.3072T>G c.2771T>G (p.Leu924Arg) n.295T>G c.4384T>G n.3769T>G c.5885T>G (p.Leu1962Arg) n.485-8634A>C c.4004T>G (p.Leu1335Arg) c.3350T>G (p.Leu1117Arg) | |
12 | g.40363462C>A | CA479247341 | LRRK2 | c.7089C>A (p.Leu2363=) c.886C>A c.*5998C>A (n.*5998C>A) c.2863C>A c.879C>A c.2534C>A (n.2534C>A) c.4176C>A c.2256C>A (n.2256C>A) c.2546C>A c.6834C>A (p.Leu2278=) n.3073C>A c.2772C>A (p.Leu924=) n.296C>A c.4385C>A n.3770C>A c.5886C>A (p.Leu1962=) n.485-8635G>T c.4005C>A (p.Leu1335=) c.3351C>A (p.Leu1117=) | |
12 | g.40363462C= | CA2031025884 | LRRK2 | c.7089C= (p.Leu2363=) c.886C= c.*5998C= (n.*5998C=) c.2863C= c.879C= c.2534C= (n.2534C=) c.4176C= c.2256C= (n.2256C=) c.2546C= c.6834C= (p.Leu2278=) n.3073C= c.2772C= (p.Leu924=) n.296C= c.4385C= n.3770C= c.5886C= (p.Leu1962=) n.485-8635G= c.4005C= (p.Leu1335=) c.3351C= (p.Leu1117=) | |
12 | g.40363462C>G | CA479247343 | LRRK2 | c.7089C>G (p.Leu2363=) c.886C>G c.*5998C>G (n.*5998C>G) c.2863C>G c.879C>G c.2534C>G (n.2534C>G) c.4176C>G c.2256C>G (n.2256C>G) c.2546C>G c.6834C>G (p.Leu2278=) n.3073C>G c.2772C>G (p.Leu924=) n.296C>G c.4385C>G n.3770C>G c.5886C>G (p.Leu1962=) n.485-8635G>C c.4005C>G (p.Leu1335=) c.3351C>G (p.Leu1117=) | ClinVar gnomAD v4 |
12 | g.40363462C>T | CA6514848 | LRRK2 | c.7089C>T (p.Leu2363=) c.886C>T c.*5998C>T (n.*5998C>T) c.2863C>T c.879C>T c.2534C>T (n.2534C>T) c.4176C>T c.2256C>T (n.2256C>T) c.2546C>T c.6834C>T (p.Leu2278=) n.3073C>T c.2772C>T (p.Leu924=) n.296C>T c.4385C>T n.3770C>T c.5886C>T (p.Leu1962=) n.485-8635G>A c.4005C>T (p.Leu1335=) c.3351C>T (p.Leu1117=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.40363463T>A | CA384413306 | LRRK2 | c.7090T>A (p.Tyr2364Asn) c.887T>A c.*5999T>A (n.*5999T>A) c.2864T>A c.880T>A c.2535T>A (n.2535T>A) c.4177T>A c.2257T>A (n.2257T>A) c.2547T>A c.6835T>A (p.Tyr2279Asn) n.3074T>A c.2773T>A (p.Tyr925Asn) n.297T>A c.4386T>A n.3771T>A c.5887T>A (p.Tyr1963Asn) n.485-8636A>T c.4006T>A (p.Tyr1336Asn) c.3352T>A (p.Tyr1118Asn) | |
12 | g.40363463T>C | CA384413308 | LRRK2 | c.7090T>C (p.Tyr2364His) c.887T>C c.*5999T>C (n.*5999T>C) c.2864T>C c.880T>C c.2535T>C (n.2535T>C) c.4177T>C c.2257T>C (n.2257T>C) c.2547T>C c.6835T>C (p.Tyr2279His) n.3074T>C c.2773T>C (p.Tyr925His) n.297T>C c.4386T>C n.3771T>C c.5887T>C (p.Tyr1963His) n.485-8636A>G c.4006T>C (p.Tyr1336His) c.3352T>C (p.Tyr1118His) | |
12 | g.40363463T>G | CA384413309 | LRRK2 | c.7090T>G (p.Tyr2364Asp) c.887T>G c.*5999T>G (n.*5999T>G) c.2864T>G c.880T>G c.2535T>G (n.2535T>G) c.4177T>G c.2257T>G (n.2257T>G) c.2547T>G c.6835T>G (p.Tyr2279Asp) n.3074T>G c.2773T>G (p.Tyr925Asp) n.297T>G c.4386T>G n.3771T>G c.5887T>G (p.Tyr1963Asp) n.485-8636A>C c.4006T>G (p.Tyr1336Asp) c.3352T>G (p.Tyr1118Asp) | |
12 | g.40363464A>C | CA384413311 | LRRK2 | c.7091A>C (p.Tyr2364Ser) c.888A>C c.*6000A>C (n.*6000A>C) c.2865A>C c.881A>C c.2536A>C (n.2536A>C) c.4178A>C c.2258A>C (n.2258A>C) c.2548A>C c.6836A>C (p.Tyr2279Ser) n.3075A>C c.2774A>C (p.Tyr925Ser) n.298A>C c.4387A>C n.3772A>C c.5888A>C (p.Tyr1963Ser) n.485-8637T>G c.4007A>C (p.Tyr1336Ser) c.3353A>C (p.Tyr1118Ser) | |
12 | g.40363464A>G | CA384413315 | LRRK2 | c.7091A>G (p.Tyr2364Cys) c.888A>G c.*6000A>G (n.*6000A>G) c.2865A>G c.881A>G c.2536A>G (n.2536A>G) c.4178A>G c.2258A>G (n.2258A>G) c.2548A>G c.6836A>G (p.Tyr2279Cys) n.3075A>G c.2774A>G (p.Tyr925Cys) n.298A>G c.4387A>G n.3772A>G c.5888A>G (p.Tyr1963Cys) n.485-8637T>C c.4007A>G (p.Tyr1336Cys) c.3353A>G (p.Tyr1118Cys) | gnomAD v4 |
12 | g.40363464A>T | CA384413314 | LRRK2 | c.7091A>T (p.Tyr2364Phe) c.888A>T c.*6000A>T (n.*6000A>T) c.2865A>T c.881A>T c.2536A>T (n.2536A>T) c.4178A>T c.2258A>T (n.2258A>T) c.2548A>T c.6836A>T (p.Tyr2279Phe) n.3075A>T c.2774A>T (p.Tyr925Phe) n.298A>T c.4387A>T n.3772A>T c.5888A>T (p.Tyr1963Phe) n.485-8637T>A c.4007A>T (p.Tyr1336Phe) c.3353A>T (p.Tyr1118Phe) | COSMIC COSMIC |
12 | g.40363465T>A | CA384413317 | LRRK2 | c.7092T>A (p.Tyr2364Ter) c.889T>A c.*6001T>A (n.*6001T>A) c.2866T>A c.882T>A c.2537T>A (n.2537T>A) c.4179T>A c.2259T>A (n.2259T>A) c.2549T>A c.6837T>A (p.Tyr2279Ter) n.3076T>A c.2775T>A (p.Tyr925Ter) n.299T>A c.4388T>A n.3773T>A c.5889T>A (p.Tyr1963Ter) n.485-8638A>T c.4008T>A (p.Tyr1336Ter) c.3354T>A (p.Tyr1118Ter) | |
12 | g.40363465T>C | CA235359635 | LRRK2 | c.7092T>C (p.Tyr2364=) c.889T>C c.*6001T>C (n.*6001T>C) c.2866T>C c.882T>C c.2537T>C (n.2537T>C) c.4179T>C c.2259T>C (n.2259T>C) c.2549T>C c.6837T>C (p.Tyr2279=) n.3076T>C c.2775T>C (p.Tyr925=) n.299T>C c.4388T>C n.3773T>C c.5889T>C (p.Tyr1963=) n.485-8638A>G c.4008T>C (p.Tyr1336=) c.3354T>C (p.Tyr1118=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.40363465T>G | CA384413320 | LRRK2 | c.7092T>G (p.Tyr2364Ter) c.889T>G c.*6001T>G (n.*6001T>G) c.2866T>G c.882T>G c.2537T>G (n.2537T>G) c.4179T>G c.2259T>G (n.2259T>G) c.2549T>G c.6837T>G (p.Tyr2279Ter) n.3076T>G c.2775T>G (p.Tyr925Ter) n.299T>G c.4388T>G n.3773T>G c.5889T>G (p.Tyr1963Ter) n.485-8638A>C c.4008T>G (p.Tyr1336Ter) c.3354T>G (p.Tyr1118Ter) | |
12 | g.40363465T= | CA2031025892 | LRRK2 | c.7092T= (p.Tyr2364=) c.889T= c.*6001T= (n.*6001T=) c.2866T= c.882T= c.2537T= (n.2537T=) c.4179T= c.2259T= (n.2259T=) c.2549T= c.6837T= (p.Tyr2279=) n.3076T= c.2775T= (p.Tyr925=) n.299T= c.4388T= n.3773T= c.5889T= (p.Tyr1963=) n.485-8638A= c.4008T= (p.Tyr1336=) c.3354T= (p.Tyr1118=) | |
12 | g.40363466A= | CA2031025902 | LRRK2 | c.7093A= (p.Ile2365=) c.890A= c.*6002A= (n.*6002A=) c.2867A= c.883A= c.2538A= (n.2538A=) c.4180A= c.2260A= (n.2260A=) c.2550A= c.6838A= (p.Ile2280=) n.3077A= c.2776A= (p.Ile926=) n.300A= c.4389A= n.3774A= c.5890A= (p.Ile1964=) n.485-8639T= c.4009A= (p.Ile1337=) c.3355A= (p.Ile1119=) | |
12 | g.40363466A>C | CA384413321 | LRRK2 | c.7093A>C (p.Ile2365Leu) c.890A>C c.*6002A>C (n.*6002A>C) c.2867A>C c.883A>C c.2538A>C (n.2538A>C) c.4180A>C c.2260A>C (n.2260A>C) c.2550A>C c.6838A>C (p.Ile2280Leu) n.3077A>C c.2776A>C (p.Ile926Leu) n.300A>C c.4389A>C n.3774A>C c.5890A>C (p.Ile1964Leu) n.485-8639T>G c.4009A>C (p.Ile1337Leu) c.3355A>C (p.Ile1119Leu) | |
12 | g.40363466A>G | CA384413322 | LRRK2 | c.7093A>G (p.Ile2365Val) c.890A>G c.*6002A>G (n.*6002A>G) c.2867A>G c.883A>G c.2538A>G (n.2538A>G) c.4180A>G c.2260A>G (n.2260A>G) c.2550A>G c.6838A>G (p.Ile2280Val) n.3077A>G c.2776A>G (p.Ile926Val) n.300A>G c.4389A>G n.3774A>G c.5890A>G (p.Ile1964Val) n.485-8639T>C c.4009A>G (p.Ile1337Val) c.3355A>G (p.Ile1119Val) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.40363466A>T | CA384413324 | LRRK2 | c.7093A>T (p.Ile2365Phe) c.890A>T c.*6002A>T (n.*6002A>T) c.2867A>T c.883A>T c.2538A>T (n.2538A>T) c.4180A>T c.2260A>T (n.2260A>T) c.2550A>T c.6838A>T (p.Ile2280Phe) n.3077A>T c.2776A>T (p.Ile926Phe) n.300A>T c.4389A>T n.3774A>T c.5890A>T (p.Ile1964Phe) n.485-8639T>A c.4009A>T (p.Ile1337Phe) c.3355A>T (p.Ile1119Phe) | gnomAD v4 |
12 | g.40363467T>A | CA384413325 | LRRK2 | c.7094T>A (p.Ile2365Asn) c.891T>A c.*6003T>A (n.*6003T>A) c.2868T>A c.884T>A c.2539T>A (n.2539T>A) c.4181T>A c.2261T>A (n.2261T>A) c.2551T>A c.6839T>A (p.Ile2280Asn) n.3078T>A c.2777T>A (p.Ile926Asn) n.301T>A c.4390T>A n.3775T>A c.5891T>A (p.Ile1964Asn) n.485-8640A>T c.4010T>A (p.Ile1337Asn) c.3356T>A (p.Ile1119Asn) | |
12 | g.40363467T>C | CA384413327 | LRRK2 | c.7094T>C (p.Ile2365Thr) c.891T>C c.*6003T>C (n.*6003T>C) c.2868T>C c.884T>C c.2539T>C (n.2539T>C) c.4181T>C c.2261T>C (n.2261T>C) c.2551T>C c.6839T>C (p.Ile2280Thr) n.3078T>C c.2777T>C (p.Ile926Thr) n.301T>C c.4390T>C n.3775T>C c.5891T>C (p.Ile1964Thr) n.485-8640A>G c.4010T>C (p.Ile1337Thr) c.3356T>C (p.Ile1119Thr) | |
12 | g.40363467T>G | CA384413328 | LRRK2 | c.7094T>G (p.Ile2365Ser) c.891T>G c.*6003T>G (n.*6003T>G) c.2868T>G c.884T>G c.2539T>G (n.2539T>G) c.4181T>G c.2261T>G (n.2261T>G) c.2551T>G c.6839T>G (p.Ile2280Ser) n.3078T>G c.2777T>G (p.Ile926Ser) n.301T>G c.4390T>G n.3775T>G c.5891T>G (p.Ile1964Ser) n.485-8640A>C c.4010T>G (p.Ile1337Ser) c.3356T>G (p.Ile1119Ser) | |
12 | g.40363467_40363468insGAGC | CA2795668871 | LRRK2 | c.7094_7095insGAGC (p.Ile2365MetfsTer4) c.891_892insGAGC c.*6003_*6004insGAGC (n.*6003_*6004insGAGC) c.2868_2869insGAGC c.884_885insGAGC c.2539_2540insGAGC (n.2539_2540insGAGC) c.4181_4182insGAGC c.2261_2262insGAGC (n.2261_2262insGAGC) c.2551_2552insGAGC c.6839_6840insGAGC (p.Ile2280MetfsTer4) n.3078_3079insGAGC c.2777_2778insGAGC (p.Ile926MetfsTer4) n.301_302insGAGC c.4390_4391insGAGC n.3775_3776insGAGC c.5891_5892insGAGC (p.Ile1964MetfsTer4) n.485-8641_485-8640insGCTC c.4010_4011insGAGC (p.Ile1337MetfsTer4) c.3356_3357insGAGC (p.Ile1119MetfsTer4) | |
12 | g.40363468T>A | CA479247366 | LRRK2 | c.7095T>A (p.Ile2365=) c.892T>A c.*6004T>A (n.*6004T>A) c.2869T>A c.885T>A c.2540T>A (n.2540T>A) c.4182T>A c.2262T>A (n.2262T>A) c.2552T>A c.6840T>A (p.Ile2280=) n.3079T>A c.2778T>A (p.Ile926=) n.302T>A c.4391T>A n.3776T>A c.5892T>A (p.Ile1964=) n.485-8641A>T c.4011T>A (p.Ile1337=) c.3357T>A (p.Ile1119=) | |
12 | g.40363468T>C | CA479247367 | LRRK2 | c.7095T>C (p.Ile2365=) c.892T>C c.*6004T>C (n.*6004T>C) c.2869T>C c.885T>C c.2540T>C (n.2540T>C) c.4182T>C c.2262T>C (n.2262T>C) c.2552T>C c.6840T>C (p.Ile2280=) n.3079T>C c.2778T>C (p.Ile926=) n.302T>C c.4391T>C n.3776T>C c.5892T>C (p.Ile1964=) n.485-8641A>G c.4011T>C (p.Ile1337=) c.3357T>C (p.Ile1119=) | |
12 | g.40363468T>G | CA384413330 | LRRK2 | c.7095T>G (p.Ile2365Met) c.892T>G c.*6004T>G (n.*6004T>G) c.2869T>G c.885T>G c.2540T>G (n.2540T>G) c.4182T>G c.2262T>G (n.2262T>G) c.2552T>G c.6840T>G (p.Ile2280Met) n.3079T>G c.2778T>G (p.Ile926Met) n.302T>G c.4391T>G n.3776T>G c.5892T>G (p.Ile1964Met) n.485-8641A>C c.4011T>G (p.Ile1337Met) c.3357T>G (p.Ile1119Met) | |
12 | g.40363469G>A | CA384413335 | LRRK2 | c.7096G>A (p.Ala2366Thr) c.893G>A c.*6005G>A (n.*6005G>A) c.2870G>A c.886G>A c.2541G>A (n.2541G>A) c.4183G>A c.2263G>A (n.2263G>A) c.2553G>A c.6841G>A (p.Ala2281Thr) n.3080G>A c.2779G>A (p.Ala927Thr) n.303G>A c.4392G>A n.3777G>A c.5893G>A (p.Ala1965Thr) n.485-8642C>T c.4012G>A (p.Ala1338Thr) c.3358G>A (p.Ala1120Thr) | |
12 | g.40363469G>C | CA384413334 | LRRK2 | c.7096G>C (p.Ala2366Pro) c.893G>C c.*6005G>C (n.*6005G>C) c.2870G>C c.886G>C c.2541G>C (n.2541G>C) c.4183G>C c.2263G>C (n.2263G>C) c.2553G>C c.6841G>C (p.Ala2281Pro) n.3080G>C c.2779G>C (p.Ala927Pro) n.303G>C c.4392G>C n.3777G>C c.5893G>C (p.Ala1965Pro) n.485-8642C>G c.4012G>C (p.Ala1338Pro) c.3358G>C (p.Ala1120Pro) | |
12 | g.40363469G>T | CA384413331 | LRRK2 | c.7096G>T (p.Ala2366Ser) c.893G>T c.*6005G>T (n.*6005G>T) c.2870G>T c.886G>T c.2541G>T (n.2541G>T) c.4183G>T c.2263G>T (n.2263G>T) c.2553G>T c.6841G>T (p.Ala2281Ser) n.3080G>T c.2779G>T (p.Ala927Ser) n.303G>T c.4392G>T n.3777G>T c.5893G>T (p.Ala1965Ser) n.485-8642C>A c.4012G>T (p.Ala1338Ser) c.3358G>T (p.Ala1120Ser) | |
12 | g.40363469_40363470insGCGTGTAGACTTCTCCCAAGACGTAGGGACGACCATTGATTTTCTCATTGGAAAGTT | CA2795668872 | LRRK2 | c.7096_7097insGCGTGTAGACTTCTCCCAAGACGTAGGGACGACCATTGATTTTCTCATTGGAAAGTT (p.Ala2366GlyfsTer3) c.893_894insGCGTGTAGACTTCTCCCAAGACGTAGGGACGACCATTGATTTTCTCATTGGAAAGTT c.*6005_*6006insGCGTGTAGACTTCTCCCAAGACGTAGGGACGACCATTGATTTTCTCATTGGAAAGTT (n.*6005_*6006insGCGTGTAGACTTCTCCCAAGACGTAGGGACGACCATTGATTTTCTCATTGGAAAGTT) c.2870_2871insGCGTGTAGACTTCTCCCAAGACGTAGGGACGACCATTGATTTTCTCATTGGAAAGTT c.886_887insGCGTGTAGACTTCTCCCAAGACGTAGGGACGACCATTGATTTTCTCATTGGAAAGTT c.2541_2542insGCGTGTAGACTTCTCCCAAGACGTAGGGACGACCATTGATTTTCTCATTGGAAAGTT (n.2541_2542insGCGTGTAGACTTCTCCCAAGACGTAGGGACGACCATTGATTTTCTCATTGGAAAGTT) c.4183_4184insGCGTGTAGACTTCTCCCAAGACGTAGGGACGACCATTGATTTTCTCATTGGAAAGTT c.2263_2264insGCGTGTAGACTTCTCCCAAGACGTAGGGACGACCATTGATTTTCTCATTGGAAAGTT (n.2263_2264insGCGTGTAGACTTCTCCCAAGACGTAGGGACGACCATTGATTTTCTCATTGGAAAGTT) c.2553_2554insGCGTGTAGACTTCTCCCAAGACGTAGGGACGACCATTGATTTTCTCATTGGAAAGTT c.6841_6842insGCGTGTAGACTTCTCCCAAGACGTAGGGACGACCATTGATTTTCTCATTGGAAAGTT (p.Ala2281GlyfsTer3) n.3080_3081insGCGTGTAGACTTCTCCCAAGACGTAGGGACGACCATTGATTTTCTCATTGGAAAGTT c.2779_2780insGCGTGTAGACTTCTCCCAAGACGTAGGGACGACCATTGATTTTCTCATTGGAAAGTT (p.Ala927GlyfsTer3) n.303_304insGCGTGTAGACTTCTCCCAAGACGTAGGGACGACCATTGATTTTCTCATTGGAAAGTT c.4392_4393insGCGTGTAGACTTCTCCCAAGACGTAGGGACGACCATTGATTTTCTCATTGGAAAGTT n.3777_3778insGCGTGTAGACTTCTCCCAAGACGTAGGGACGACCATTGATTTTCTCATTGGAAAGTT c.5893_5894insGCGTGTAGACTTCTCCCAAGACGTAGGGACGACCATTGATTTTCTCATTGGAAAGTT (p.Ala1965GlyfsTer3) n.485-8643_485-8642insAACTTTCCAATGAGAAAATCAATGGTCGTCCCTACGTCTTGGGAGAAGTCTACACGC c.4012_4013insGCGTGTAGACTTCTCCCAAGACGTAGGGACGACCATTGATTTTCTCATTGGAAAGTT (p.Ala1338GlyfsTer3) c.3358_3359insGCGTGTAGACTTCTCCCAAGACGTAGGGACGACCATTGATTTTCTCATTGGAAAGTT (p.Ala1120GlyfsTer3) | |
12 | g.40363470C>A | CA384413339 | LRRK2 | c.7097C>A (p.Ala2366Asp) c.894C>A c.*6006C>A (n.*6006C>A) c.2871C>A c.887C>A c.2542C>A (n.2542C>A) c.4184C>A c.2264C>A (n.2264C>A) c.2554C>A c.6842C>A (p.Ala2281Asp) n.3081C>A c.2780C>A (p.Ala927Asp) n.304C>A c.4393C>A n.3778C>A c.5894C>A (p.Ala1965Asp) n.485-8643G>T c.4013C>A (p.Ala1338Asp) c.3359C>A (p.Ala1120Asp) | |
12 | g.40363470C>G | CA384413336 | LRRK2 | c.7097C>G (p.Ala2366Gly) c.894C>G c.*6006C>G (n.*6006C>G) c.2871C>G c.887C>G c.2542C>G (n.2542C>G) c.4184C>G c.2264C>G (n.2264C>G) c.2554C>G c.6842C>G (p.Ala2281Gly) n.3081C>G c.2780C>G (p.Ala927Gly) n.304C>G c.4393C>G n.3778C>G c.5894C>G (p.Ala1965Gly) n.485-8643G>C c.4013C>G (p.Ala1338Gly) c.3359C>G (p.Ala1120Gly) | |
12 | g.40363470C>T | CA384413338 | LRRK2 | c.7097C>T (p.Ala2366Val) c.894C>T c.*6006C>T (n.*6006C>T) c.2871C>T c.887C>T c.2542C>T (n.2542C>T) c.4184C>T c.2264C>T (n.2264C>T) c.2554C>T c.6842C>T (p.Ala2281Val) n.3081C>T c.2780C>T (p.Ala927Val) n.304C>T c.4393C>T n.3778C>T c.5894C>T (p.Ala1965Val) n.485-8643G>A c.4013C>T (p.Ala1338Val) c.3359C>T (p.Ala1120Val) | |
12 | g.40363471T>A | CA479247380 | LRRK2 | c.7098T>A (p.Ala2366=) c.895T>A c.*6007T>A (n.*6007T>A) c.2872T>A c.888T>A c.2543T>A (n.2543T>A) c.4185T>A c.2265T>A (n.2265T>A) c.2555T>A c.6843T>A (p.Ala2281=) n.3082T>A c.2781T>A (p.Ala927=) n.305T>A c.4394T>A n.3779T>A c.5895T>A (p.Ala1965=) n.485-8644A>T c.4014T>A (p.Ala1338=) c.3360T>A (p.Ala1120=) | |
12 | g.40363471T>C | CA479247376 | LRRK2 | c.7098T>C (p.Ala2366=) c.895T>C c.*6007T>C (n.*6007T>C) c.2872T>C c.888T>C c.2543T>C (n.2543T>C) c.4185T>C c.2265T>C (n.2265T>C) c.2555T>C c.6843T>C (p.Ala2281=) n.3082T>C c.2781T>C (p.Ala927=) n.305T>C c.4394T>C n.3779T>C c.5895T>C (p.Ala1965=) n.485-8644A>G c.4014T>C (p.Ala1338=) c.3360T>C (p.Ala1120=) | |
12 | g.40363471T>G | CA479247378 | LRRK2 | c.7098T>G (p.Ala2366=) c.895T>G c.*6007T>G (n.*6007T>G) c.2872T>G c.888T>G c.2543T>G (n.2543T>G) c.4185T>G c.2265T>G (n.2265T>G) c.2555T>G c.6843T>G (p.Ala2281=) n.3082T>G c.2781T>G (p.Ala927=) n.305T>G c.4394T>G n.3779T>G c.5895T>G (p.Ala1965=) n.485-8644A>C c.4014T>G (p.Ala1338=) c.3360T>G (p.Ala1120=) | gnomAD v4 |
12 | g.40363471T= | CA2031025909 | LRRK2 | c.7098T= (p.Ala2366=) c.895T= c.*6007T= (n.*6007T=) c.2872T= c.888T= c.2543T= (n.2543T=) c.4185T= c.2265T= (n.2265T=) c.2555T= c.6843T= (p.Ala2281=) n.3082T= c.2781T= (p.Ala927=) n.305T= c.4394T= n.3779T= c.5895T= (p.Ala1965=) n.485-8644A= c.4014T= (p.Ala1338=) c.3360T= (p.Ala1120=) | |
12 | g.40363472A>C | CA384413341 | LRRK2 | c.7099A>C (p.Lys2367Gln) c.896A>C c.*6008A>C (n.*6008A>C) c.2873A>C c.889A>C c.2544A>C (n.2544A>C) c.4186A>C c.2266A>C (n.2266A>C) c.2556A>C c.6844A>C (p.Lys2282Gln) n.3083A>C c.2782A>C (p.Lys928Gln) n.306A>C c.4395A>C n.3780A>C c.5896A>C (p.Lys1966Gln) n.485-8645T>G c.4015A>C (p.Lys1339Gln) c.3361A>C (p.Lys1121Gln) | |
12 | g.40363472A>G | CA384413342 | LRRK2 | c.7099A>G (p.Lys2367Glu) c.896A>G c.*6008A>G (n.*6008A>G) c.2873A>G c.889A>G c.2544A>G (n.2544A>G) c.4186A>G c.2266A>G (n.2266A>G) c.2556A>G c.6844A>G (p.Lys2282Glu) n.3083A>G c.2782A>G (p.Lys928Glu) n.306A>G c.4395A>G n.3780A>G c.5896A>G (p.Lys1966Glu) n.485-8645T>C c.4015A>G (p.Lys1339Glu) c.3361A>G (p.Lys1121Glu) | |
12 | g.40363472A>T | CA384413344 | LRRK2 | c.7099A>T (p.Lys2367Ter) c.896A>T c.*6008A>T (n.*6008A>T) c.2873A>T c.889A>T c.2544A>T (n.2544A>T) c.4186A>T c.2266A>T (n.2266A>T) c.2556A>T c.6844A>T (p.Lys2282Ter) n.3083A>T c.2782A>T (p.Lys928Ter) n.306A>T c.4395A>T n.3780A>T c.5896A>T (p.Lys1966Ter) n.485-8645T>A c.4015A>T (p.Lys1339Ter) c.3361A>T (p.Lys1121Ter) | gnomAD v4 |
12 | g.40363473dup | CA604506190 | LRRK2 | c.7100dup (p.Gln2368AlafsTer3) c.897dup c.*6009dup (n.*6009dup) c.2874dup c.890dup c.2545dup (n.2545dup) c.4187dup c.2267dup (n.2267dup) c.2557dup c.6845dup (p.Gln2283AlafsTer3) n.3084dup c.2783dup (p.Gln929AlafsTer3) n.307dup c.4396dup n.3781dup c.5897dup (p.Gln1967AlafsTer3) n.485-8645dup c.4016dup (p.Gln1340AlafsTer3) c.3362dup (p.Gln1122AlafsTer3) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.40363473A>C | CA384413346 | LRRK2 | c.7100A>C (p.Lys2367Thr) c.897A>C c.*6009A>C (n.*6009A>C) c.2874A>C c.890A>C c.2545A>C (n.2545A>C) c.4187A>C c.2267A>C (n.2267A>C) c.2557A>C c.6845A>C (p.Lys2282Thr) n.3084A>C c.2783A>C (p.Lys928Thr) n.307A>C c.4396A>C n.3781A>C c.5897A>C (p.Lys1966Thr) n.485-8646T>G c.4016A>C (p.Lys1339Thr) c.3362A>C (p.Lys1121Thr) | |
12 | g.40363473A>G | CA384413347 | LRRK2 | c.7100A>G (p.Lys2367Arg) c.897A>G c.*6009A>G (n.*6009A>G) c.2874A>G c.890A>G c.2545A>G (n.2545A>G) c.4187A>G c.2267A>G (n.2267A>G) c.2557A>G c.6845A>G (p.Lys2282Arg) n.3084A>G c.2783A>G (p.Lys928Arg) n.307A>G c.4396A>G n.3781A>G c.5897A>G (p.Lys1966Arg) n.485-8646T>C c.4016A>G (p.Lys1339Arg) c.3362A>G (p.Lys1121Arg) | |
12 | g.40363473A>T | CA384413348 | LRRK2 | c.7100A>T (p.Lys2367Met) c.897A>T c.*6009A>T (n.*6009A>T) c.2874A>T c.890A>T c.2545A>T (n.2545A>T) c.4187A>T c.2267A>T (n.2267A>T) c.2557A>T c.6845A>T (p.Lys2282Met) n.3084A>T c.2783A>T (p.Lys928Met) n.307A>T c.4396A>T n.3781A>T c.5897A>T (p.Lys1966Met) n.485-8646T>A c.4016A>T (p.Lys1339Met) c.3362A>T (p.Lys1121Met) | |
12 | g.40363474G>A | CA479247389 | LRRK2 | c.7101G>A (p.Lys2367=) c.898G>A c.*6010G>A (n.*6010G>A) c.2875G>A c.891G>A c.2546G>A (n.2546G>A) c.4188G>A c.2268G>A (n.2268G>A) c.2558G>A c.6846G>A (p.Lys2282=) n.3085G>A c.2784G>A (p.Lys928=) n.308G>A c.4397G>A n.3782G>A c.5898G>A (p.Lys1966=) n.485-8647C>T c.4017G>A (p.Lys1339=) c.3363G>A (p.Lys1121=) | ClinVar gnomAD v4 |
12 | g.40363474G>C | CA384413349 | LRRK2 | c.7101G>C (p.Lys2367Asn) c.898G>C c.*6010G>C (n.*6010G>C) c.2875G>C c.891G>C c.2546G>C (n.2546G>C) c.4188G>C c.2268G>C (n.2268G>C) c.2558G>C c.6846G>C (p.Lys2282Asn) n.3085G>C c.2784G>C (p.Lys928Asn) n.308G>C c.4397G>C n.3782G>C c.5898G>C (p.Lys1966Asn) n.485-8647C>G c.4017G>C (p.Lys1339Asn) c.3363G>C (p.Lys1121Asn) | |
12 | g.40363474G>T | CA384413350 | LRRK2 | c.7101G>T (p.Lys2367Asn) c.898G>T c.*6010G>T (n.*6010G>T) c.2875G>T c.891G>T c.2546G>T (n.2546G>T) c.4188G>T c.2268G>T (n.2268G>T) c.2558G>T c.6846G>T (p.Lys2282Asn) n.3085G>T c.2784G>T (p.Lys928Asn) n.308G>T c.4397G>T n.3782G>T c.5898G>T (p.Lys1966Asn) n.485-8647C>A c.4017G>T (p.Lys1339Asn) c.3363G>T (p.Lys1121Asn) | |
12 | g.40363475C>A | CA384413352 | LRRK2 | c.7102C>A (p.Gln2368Lys) c.899C>A c.*6011C>A (n.*6011C>A) c.2876C>A c.892C>A c.2547C>A (n.2547C>A) c.4189C>A c.2269C>A (n.2269C>A) c.2559C>A c.6847C>A (p.Gln2283Lys) n.3086C>A c.2785C>A (p.Gln929Lys) n.309C>A c.4398C>A n.3783C>A c.5899C>A (p.Gln1967Lys) n.485-8648G>T c.4018C>A (p.Gln1340Lys) c.3364C>A (p.Gln1122Lys) | dbSNP |
12 | g.40363475C= | CA2031025920 | LRRK2 | c.7102C= (p.Gln2368=) c.899C= c.*6011C= (n.*6011C=) c.2876C= c.892C= c.2547C= (n.2547C=) c.4189C= c.2269C= (n.2269C=) c.2559C= c.6847C= (p.Gln2283=) n.3086C= c.2785C= (p.Gln929=) n.309C= c.4398C= n.3783C= c.5899C= (p.Gln1967=) n.485-8648G= c.4018C= (p.Gln1340=) c.3364C= (p.Gln1122=) | |
12 | g.40363475C>G | CA384413353 | LRRK2 | c.7102C>G (p.Gln2368Glu) c.899C>G c.*6011C>G (n.*6011C>G) c.2876C>G c.892C>G c.2547C>G (n.2547C>G) c.4189C>G c.2269C>G (n.2269C>G) c.2559C>G c.6847C>G (p.Gln2283Glu) n.3086C>G c.2785C>G (p.Gln929Glu) n.309C>G c.4398C>G n.3783C>G c.5899C>G (p.Gln1967Glu) n.485-8648G>C c.4018C>G (p.Gln1340Glu) c.3364C>G (p.Gln1122Glu) | |
12 | g.40363475C>T | CA384413355 | LRRK2 | c.7102C>T (p.Gln2368Ter) c.899C>T c.*6011C>T (n.*6011C>T) c.2876C>T c.892C>T c.2547C>T (n.2547C>T) c.4189C>T c.2269C>T (n.2269C>T) c.2559C>T c.6847C>T (p.Gln2283Ter) n.3086C>T c.2785C>T (p.Gln929Ter) n.309C>T c.4398C>T n.3783C>T c.5899C>T (p.Gln1967Ter) n.485-8648G>A c.4018C>T (p.Gln1340Ter) c.3364C>T (p.Gln1122Ter) | |
12 | g.40363476A>C | CA384413360 | LRRK2 | c.7103A>C (p.Gln2368Pro) c.900A>C c.*6012A>C (n.*6012A>C) c.2877A>C c.893A>C c.2548A>C (n.2548A>C) c.4190A>C c.2270A>C (n.2270A>C) c.2560A>C c.6848A>C (p.Gln2283Pro) n.3087A>C c.2786A>C (p.Gln929Pro) n.310A>C c.4399A>C n.3784A>C c.5900A>C (p.Gln1967Pro) n.485-8649T>G c.4019A>C (p.Gln1340Pro) c.3365A>C (p.Gln1122Pro) | |
12 | g.40363476A>G | CA384413357 | LRRK2 | c.7103A>G (p.Gln2368Arg) c.900A>G c.*6012A>G (n.*6012A>G) c.2877A>G c.893A>G c.2548A>G (n.2548A>G) c.4190A>G c.2270A>G (n.2270A>G) c.2560A>G c.6848A>G (p.Gln2283Arg) n.3087A>G c.2786A>G (p.Gln929Arg) n.310A>G c.4399A>G n.3784A>G c.5900A>G (p.Gln1967Arg) n.485-8649T>C c.4019A>G (p.Gln1340Arg) c.3365A>G (p.Gln1122Arg) | |
12 | g.40363476A>T | CA384413359 | LRRK2 | c.7103A>T (p.Gln2368Leu) c.900A>T c.*6012A>T (n.*6012A>T) c.2877A>T c.893A>T c.2548A>T (n.2548A>T) c.4190A>T c.2270A>T (n.2270A>T) c.2560A>T c.6848A>T (p.Gln2283Leu) n.3087A>T c.2786A>T (p.Gln929Leu) n.310A>T c.4399A>T n.3784A>T c.5900A>T (p.Gln1967Leu) n.485-8649T>A c.4019A>T (p.Gln1340Leu) c.3365A>T (p.Gln1122Leu) | |
12 | g.40363477A>C | CA384413362 | LRRK2 | c.7104A>C (p.Gln2368His) c.901A>C c.*6013A>C (n.*6013A>C) c.2878A>C c.894A>C c.2549A>C (n.2549A>C) c.4191A>C c.2271A>C (n.2271A>C) c.2561A>C c.6849A>C (p.Gln2283His) n.3088A>C c.2787A>C (p.Gln929His) n.311A>C c.4400A>C n.3785A>C c.5901A>C (p.Gln1967His) n.485-8650T>G c.4020A>C (p.Gln1340His) c.3366A>C (p.Gln1122His) | |
12 | g.40363477A>G | CA479247401 | LRRK2 | c.7104A>G (p.Gln2368=) c.901A>G c.*6013A>G (n.*6013A>G) c.2878A>G c.894A>G c.2549A>G (n.2549A>G) c.4191A>G c.2271A>G (n.2271A>G) c.2561A>G c.6849A>G (p.Gln2283=) n.3088A>G c.2787A>G (p.Gln929=) n.311A>G c.4400A>G n.3785A>G c.5901A>G (p.Gln1967=) n.485-8650T>C c.4020A>G (p.Gln1340=) c.3366A>G (p.Gln1122=) | gnomAD v4 |
12 | g.40363477A>T | CA384413363 | LRRK2 | c.7104A>T (p.Gln2368His) c.901A>T c.*6013A>T (n.*6013A>T) c.2878A>T c.894A>T c.2549A>T (n.2549A>T) c.4191A>T c.2271A>T (n.2271A>T) c.2561A>T c.6849A>T (p.Gln2283His) n.3088A>T c.2787A>T (p.Gln929His) n.311A>T c.4400A>T n.3785A>T c.5901A>T (p.Gln1967His) n.485-8650T>A c.4020A>T (p.Gln1340His) c.3366A>T (p.Gln1122His) | |
12 | g.40363478A>C | CA384413365 | LRRK2 | c.7105A>C (p.Asn2369His) c.902A>C c.*6014A>C (n.*6014A>C) c.2879A>C c.895A>C c.2550A>C (n.2550A>C) c.4192A>C c.2272A>C (n.2272A>C) c.2562A>C c.6850A>C (p.Asn2284His) n.3089A>C c.2788A>C (p.Asn930His) n.312A>C c.4401A>C n.3786A>C c.5902A>C (p.Asn1968His) n.485-8651T>G c.4021A>C (p.Asn1341His) c.3367A>C (p.Asn1123His) | |
12 | g.40363478A>G | CA384413367 | LRRK2 | c.7105A>G (p.Asn2369Asp) c.902A>G c.*6014A>G (n.*6014A>G) c.2879A>G c.895A>G c.2550A>G (n.2550A>G) c.4192A>G c.2272A>G (n.2272A>G) c.2562A>G c.6850A>G (p.Asn2284Asp) n.3089A>G c.2788A>G (p.Asn930Asp) n.312A>G c.4401A>G n.3786A>G c.5902A>G (p.Asn1968Asp) n.485-8651T>C c.4021A>G (p.Asn1341Asp) c.3367A>G (p.Asn1123Asp) | COSMIC COSMIC |
12 | g.40363478A>T | CA384413368 | LRRK2 | c.7105A>T (p.Asn2369Tyr) c.902A>T c.*6014A>T (n.*6014A>T) c.2879A>T c.895A>T c.2550A>T (n.2550A>T) c.4192A>T c.2272A>T (n.2272A>T) c.2562A>T c.6850A>T (p.Asn2284Tyr) n.3089A>T c.2788A>T (p.Asn930Tyr) n.312A>T c.4401A>T n.3786A>T c.5902A>T (p.Asn1968Tyr) n.485-8651T>A c.4021A>T (p.Asn1341Tyr) c.3367A>T (p.Asn1123Tyr) | |
12 | g.40363479A= | CA2031025931 | LRRK2 | c.7106A= (p.Asn2369=) c.903A= c.*6015A= (n.*6015A=) c.2880A= c.896A= c.2551A= (n.2551A=) c.4193A= c.2273A= (n.2273A=) c.2563A= c.6851A= (p.Asn2284=) n.3090A= c.2789A= (p.Asn930=) n.313A= c.4402A= n.3787A= c.5903A= (p.Asn1968=) n.485-8652T= c.4022A= (p.Asn1341=) c.3368A= (p.Asn1123=) | |
12 | g.40363479A>C | CA384413370 | LRRK2 | c.7106A>C (p.Asn2369Thr) c.903A>C c.*6015A>C (n.*6015A>C) c.2880A>C c.896A>C c.2551A>C (n.2551A>C) c.4193A>C c.2273A>C (n.2273A>C) c.2563A>C c.6851A>C (p.Asn2284Thr) n.3090A>C c.2789A>C (p.Asn930Thr) n.313A>C c.4402A>C n.3787A>C c.5903A>C (p.Asn1968Thr) n.485-8652T>G c.4022A>C (p.Asn1341Thr) c.3368A>C (p.Asn1123Thr) | |
12 | g.40363479A>G | CA6514849 | LRRK2 | c.7106A>G (p.Asn2369Ser) c.903A>G c.*6015A>G (n.*6015A>G) c.2880A>G c.896A>G c.2551A>G (n.2551A>G) c.4193A>G c.2273A>G (n.2273A>G) c.2563A>G c.6851A>G (p.Asn2284Ser) n.3090A>G c.2789A>G (p.Asn930Ser) n.313A>G c.4402A>G n.3787A>G c.5903A>G (p.Asn1968Ser) n.485-8652T>C c.4022A>G (p.Asn1341Ser) c.3368A>G (p.Asn1123Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.40363479A>T | CA384413372 | LRRK2 | c.7106A>T (p.Asn2369Ile) c.903A>T c.*6015A>T (n.*6015A>T) c.2880A>T c.896A>T c.2551A>T (n.2551A>T) c.4193A>T c.2273A>T (n.2273A>T) c.2563A>T c.6851A>T (p.Asn2284Ile) n.3090A>T c.2789A>T (p.Asn930Ile) n.313A>T c.4402A>T n.3787A>T c.5903A>T (p.Asn1968Ile) n.485-8652T>A c.4022A>T (p.Asn1341Ile) c.3368A>T (p.Asn1123Ile) | |
12 | g.40363480T>A | CA384413374 | LRRK2 | c.7107T>A (p.Asn2369Lys) c.904T>A c.*6016T>A (n.*6016T>A) c.2881T>A c.897T>A c.2552T>A (n.2552T>A) c.4194T>A c.2274T>A (n.2274T>A) c.2564T>A c.6852T>A (p.Asn2284Lys) n.3091T>A c.2790T>A (p.Asn930Lys) n.314T>A c.4403T>A n.3788T>A c.5904T>A (p.Asn1968Lys) n.485-8653A>T c.4023T>A (p.Asn1341Lys) c.3369T>A (p.Asn1123Lys) | |
12 | g.40363480T>C | CA479247412 | LRRK2 | c.7107T>C (p.Asn2369=) c.904T>C c.*6016T>C (n.*6016T>C) c.2881T>C c.897T>C c.2552T>C (n.2552T>C) c.4194T>C c.2274T>C (n.2274T>C) c.2564T>C c.6852T>C (p.Asn2284=) n.3091T>C c.2790T>C (p.Asn930=) n.314T>C c.4403T>C n.3788T>C c.5904T>C (p.Asn1968=) n.485-8653A>G c.4023T>C (p.Asn1341=) c.3369T>C (p.Asn1123=) | ClinVar |
12 | g.40363480T>G | CA384413375 | LRRK2 | c.7107T>G (p.Asn2369Lys) c.904T>G c.*6016T>G (n.*6016T>G) c.2881T>G c.897T>G c.2552T>G (n.2552T>G) c.4194T>G c.2274T>G (n.2274T>G) c.2564T>G c.6852T>G (p.Asn2284Lys) n.3091T>G c.2790T>G (p.Asn930Lys) n.314T>G c.4403T>G n.3788T>G c.5904T>G (p.Asn1968Lys) n.485-8653A>C c.4023T>G (p.Asn1341Lys) c.3369T>G (p.Asn1123Lys) | |
12 | g.40363481A>C | CA384413377 | LRRK2 | c.7108A>C (p.Ser2370Arg) c.905A>C c.*6017A>C (n.*6017A>C) c.2882A>C c.898A>C c.2553A>C (n.2553A>C) c.4195A>C c.2275A>C (n.2275A>C) c.2565A>C c.6853A>C (p.Ser2285Arg) n.3092A>C c.2791A>C (p.Ser931Arg) n.315A>C c.4404A>C n.3789A>C c.5905A>C (p.Ser1969Arg) n.485-8654T>G c.4024A>C (p.Ser1342Arg) c.3370A>C (p.Ser1124Arg) | |
12 | g.40363481A>G | CA384413379 | LRRK2 | c.7108A>G (p.Ser2370Gly) c.905A>G c.*6017A>G (n.*6017A>G) c.2882A>G c.898A>G c.2553A>G (n.2553A>G) c.4195A>G c.2275A>G (n.2275A>G) c.2565A>G c.6853A>G (p.Ser2285Gly) n.3092A>G c.2791A>G (p.Ser931Gly) n.315A>G c.4404A>G n.3789A>G c.5905A>G (p.Ser1969Gly) n.485-8654T>C c.4024A>G (p.Ser1342Gly) c.3370A>G (p.Ser1124Gly) | |
12 | g.40363481A>T | CA384413381 | LRRK2 | c.7108A>T (p.Ser2370Cys) c.905A>T c.*6017A>T (n.*6017A>T) c.2882A>T c.898A>T c.2553A>T (n.2553A>T) c.4195A>T c.2275A>T (n.2275A>T) c.2565A>T c.6853A>T (p.Ser2285Cys) n.3092A>T c.2791A>T (p.Ser931Cys) n.315A>T c.4404A>T n.3789A>T c.5905A>T (p.Ser1969Cys) n.485-8654T>A c.4024A>T (p.Ser1342Cys) c.3370A>T (p.Ser1124Cys) | |
12 | g.40363482G>A | CA235359646 | LRRK2 | c.7109G>A (p.Ser2370Asn) c.906G>A c.*6018G>A (n.*6018G>A) c.2883G>A c.899G>A c.2554G>A (n.2554G>A) c.4196G>A c.2276G>A (n.2276G>A) c.2566G>A c.6854G>A (p.Ser2285Asn) n.3093G>A c.2792G>A (p.Ser931Asn) n.316G>A c.4405G>A n.3790G>A c.5906G>A (p.Ser1969Asn) n.485-8655C>T c.4025G>A (p.Ser1342Asn) c.3371G>A (p.Ser1124Asn) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.40363482G>C | CA384413384 | LRRK2 | c.7109G>C (p.Ser2370Thr) c.906G>C c.*6018G>C (n.*6018G>C) c.2883G>C c.899G>C c.2554G>C (n.2554G>C) c.4196G>C c.2276G>C (n.2276G>C) c.2566G>C c.6854G>C (p.Ser2285Thr) n.3093G>C c.2792G>C (p.Ser931Thr) n.316G>C c.4405G>C n.3790G>C c.5906G>C (p.Ser1969Thr) n.485-8655C>G c.4025G>C (p.Ser1342Thr) c.3371G>C (p.Ser1124Thr) | |
12 | g.40363482G= | CA2031025937 | LRRK2 | c.7109G= (p.Ser2370=) c.906G= c.*6018G= (n.*6018G=) c.2883G= c.899G= c.2554G= (n.2554G=) c.4196G= c.2276G= (n.2276G=) c.2566G= c.6854G= (p.Ser2285=) n.3093G= c.2792G= (p.Ser931=) n.316G= c.4405G= n.3790G= c.5906G= (p.Ser1969=) n.485-8655C= c.4025G= (p.Ser1342=) c.3371G= (p.Ser1124=) | |
12 | g.40363482G>T | CA384413382 | LRRK2 | c.7109G>T (p.Ser2370Ile) c.906G>T c.*6018G>T (n.*6018G>T) c.2883G>T c.899G>T c.2554G>T (n.2554G>T) c.4196G>T c.2276G>T (n.2276G>T) c.2566G>T c.6854G>T (p.Ser2285Ile) n.3093G>T c.2792G>T (p.Ser931Ile) n.316G>T c.4405G>T n.3790G>T c.5906G>T (p.Ser1969Ile) n.485-8655C>A c.4025G>T (p.Ser1342Ile) c.3371G>T (p.Ser1124Ile) | dbSNP |
12 | g.40363483C>A | CA384413386 | LRRK2 | c.7110C>A (p.Ser2370Arg) c.907C>A c.*6019C>A (n.*6019C>A) c.2884C>A c.900C>A c.2555C>A (n.2555C>A) c.4197C>A c.2277C>A (n.2277C>A) c.2567C>A c.6855C>A (p.Ser2285Arg) n.3094C>A c.2793C>A (p.Ser931Arg) n.317C>A c.4406C>A n.3791C>A c.5907C>A (p.Ser1969Arg) n.485-8656G>T c.4026C>A (p.Ser1342Arg) c.3372C>A (p.Ser1124Arg) | |
12 | g.40363483C= | CA2031025942 | LRRK2 | c.7110C= (p.Ser2370=) c.907C= c.*6019C= (n.*6019C=) c.2884C= c.900C= c.2555C= (n.2555C=) c.4197C= c.2277C= (n.2277C=) c.2567C= c.6855C= (p.Ser2285=) n.3094C= c.2793C= (p.Ser931=) n.317C= c.4406C= n.3791C= c.5907C= (p.Ser1969=) n.485-8656G= c.4026C= (p.Ser1342=) c.3372C= (p.Ser1124=) | |
12 | g.40363483C>G | CA384413388 | LRRK2 | c.7110C>G (p.Ser2370Arg) c.907C>G c.*6019C>G (n.*6019C>G) c.2884C>G c.900C>G c.2555C>G (n.2555C>G) c.4197C>G c.2277C>G (n.2277C>G) c.2567C>G c.6855C>G (p.Ser2285Arg) n.3094C>G c.2793C>G (p.Ser931Arg) n.317C>G c.4406C>G n.3791C>G c.5907C>G (p.Ser1969Arg) n.485-8656G>C c.4026C>G (p.Ser1342Arg) c.3372C>G (p.Ser1124Arg) | dbSNP |
12 | g.40363483C>T | CA479247424 | LRRK2 | c.7110C>T (p.Ser2370=) c.907C>T c.*6019C>T (n.*6019C>T) c.2884C>T c.900C>T c.2555C>T (n.2555C>T) c.4197C>T c.2277C>T (n.2277C>T) c.2567C>T c.6855C>T (p.Ser2285=) n.3094C>T c.2793C>T (p.Ser931=) n.317C>T c.4406C>T n.3791C>T c.5907C>T (p.Ser1969=) n.485-8656G>A c.4026C>T (p.Ser1342=) c.3372C>T (p.Ser1124=) | ClinVar gnomAD v4 |
12 | g.40363484C>A | CA384413390 | LRRK2 | c.7111C>A (p.Pro2371Thr) c.908C>A c.*6020C>A (n.*6020C>A) c.2885C>A c.901C>A c.2556C>A (n.2556C>A) c.4198C>A c.2278C>A (n.2278C>A) c.2568C>A c.6856C>A (p.Pro2286Thr) n.3095C>A c.2794C>A (p.Pro932Thr) n.318C>A c.4407C>A n.3792C>A c.5908C>A (p.Pro1970Thr) n.485-8657G>T c.4027C>A (p.Pro1343Thr) c.3373C>A (p.Pro1125Thr) | |
12 | g.40363484C= | CA2031025944 | LRRK2 | c.7111C= (p.Pro2371=) c.908C= c.*6020C= (n.*6020C=) c.2885C= c.901C= c.2556C= (n.2556C=) c.4198C= c.2278C= (n.2278C=) c.2568C= c.6856C= (p.Pro2286=) n.3095C= c.2794C= (p.Pro932=) n.318C= c.4407C= n.3792C= c.5908C= (p.Pro1970=) n.485-8657G= c.4027C= (p.Pro1343=) c.3373C= (p.Pro1125=) | |
12 | g.40363484C>G | CA384413392 | LRRK2 | c.7111C>G (p.Pro2371Ala) c.908C>G c.*6020C>G (n.*6020C>G) c.2885C>G c.901C>G c.2556C>G (n.2556C>G) c.4198C>G c.2278C>G (n.2278C>G) c.2568C>G c.6856C>G (p.Pro2286Ala) n.3095C>G c.2794C>G (p.Pro932Ala) n.318C>G c.4407C>G n.3792C>G c.5908C>G (p.Pro1970Ala) n.485-8657G>C c.4027C>G (p.Pro1343Ala) c.3373C>G (p.Pro1125Ala) | |
12 | g.40363484C>T | CA384413393 | LRRK2 | c.7111C>T (p.Pro2371Ser) c.908C>T c.*6020C>T (n.*6020C>T) c.2885C>T c.901C>T c.2556C>T (n.2556C>T) c.4198C>T c.2278C>T (n.2278C>T) c.2568C>T c.6856C>T (p.Pro2286Ser) n.3095C>T c.2794C>T (p.Pro932Ser) n.318C>T c.4407C>T n.3792C>T c.5908C>T (p.Pro1970Ser) n.485-8657G>A c.4027C>T (p.Pro1343Ser) c.3373C>T (p.Pro1125Ser) | ClinVar dbSNP gnomAD v4 |
12 | g.40363485C>A | CA384413395 | LRRK2 | c.7112C>A (p.Pro2371His) c.909C>A c.*6021C>A (n.*6021C>A) c.2886C>A c.902C>A c.2557C>A (n.2557C>A) c.4199C>A c.2279C>A (n.2279C>A) c.2569C>A c.6857C>A (p.Pro2286His) n.3096C>A c.2795C>A (p.Pro932His) n.319C>A c.4408C>A n.3793C>A c.5909C>A (p.Pro1970His) n.485-8658G>T c.4028C>A (p.Pro1343His) c.3374C>A (p.Pro1125His) | gnomAD v4 |
12 | g.40363485C>G | CA384413396 | LRRK2 | c.7112C>G (p.Pro2371Arg) c.909C>G c.*6021C>G (n.*6021C>G) c.2886C>G c.902C>G c.2557C>G (n.2557C>G) c.4199C>G c.2279C>G (n.2279C>G) c.2569C>G c.6857C>G (p.Pro2286Arg) n.3096C>G c.2795C>G (p.Pro932Arg) n.319C>G c.4408C>G n.3793C>G c.5909C>G (p.Pro1970Arg) n.485-8658G>C c.4028C>G (p.Pro1343Arg) c.3374C>G (p.Pro1125Arg) | |
12 | g.40363485C>T | CA384413398 | LRRK2 | c.7112C>T (p.Pro2371Leu) c.909C>T c.*6021C>T (n.*6021C>T) c.2886C>T c.902C>T c.2557C>T (n.2557C>T) c.4199C>T c.2279C>T (n.2279C>T) c.2569C>T c.6857C>T (p.Pro2286Leu) n.3096C>T c.2795C>T (p.Pro932Leu) n.319C>T c.4408C>T n.3793C>T c.5909C>T (p.Pro1970Leu) n.485-8658G>A c.4028C>T (p.Pro1343Leu) c.3374C>T (p.Pro1125Leu) | |
12 | g.40363486T>A | CA479247433 | LRRK2 | c.7113T>A (p.Pro2371=) c.910T>A c.*6022T>A (n.*6022T>A) c.2887T>A c.903T>A c.2558T>A (n.2558T>A) c.4200T>A c.2280T>A (n.2280T>A) c.2570T>A c.6858T>A (p.Pro2286=) n.3097T>A c.2796T>A (p.Pro932=) n.320T>A c.4409T>A n.3794T>A c.5910T>A (p.Pro1970=) n.485-8659A>T c.4029T>A (p.Pro1343=) c.3375T>A (p.Pro1125=) | |
12 | g.40363486T>C | CA6514850 | LRRK2 | c.7113T>C (p.Pro2371=) c.910T>C c.*6022T>C (n.*6022T>C) c.2887T>C c.903T>C c.2558T>C (n.2558T>C) c.4200T>C c.2280T>C (n.2280T>C) c.2570T>C c.6858T>C (p.Pro2286=) n.3097T>C c.2796T>C (p.Pro932=) n.320T>C c.4409T>C n.3794T>C c.5910T>C (p.Pro1970=) n.485-8659A>G c.4029T>C (p.Pro1343=) c.3375T>C (p.Pro1125=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.40363486T>G | CA479247436 | LRRK2 | c.7113T>G (p.Pro2371=) c.910T>G c.*6022T>G (n.*6022T>G) c.2887T>G c.903T>G c.2558T>G (n.2558T>G) c.4200T>G c.2280T>G (n.2280T>G) c.2570T>G c.6858T>G (p.Pro2286=) n.3097T>G c.2796T>G (p.Pro932=) n.320T>G c.4409T>G n.3794T>G c.5910T>G (p.Pro1970=) n.485-8659A>C c.4029T>G (p.Pro1343=) c.3375T>G (p.Pro1125=) | ClinVar dbSNP gnomAD v4 |
12 | g.40363486T= | CA2031025947 | LRRK2 | c.7113T= (p.Pro2371=) c.910T= c.*6022T= (n.*6022T=) c.2887T= c.903T= c.2558T= (n.2558T=) c.4200T= c.2280T= (n.2280T=) c.2570T= c.6858T= (p.Pro2286=) n.3097T= c.2796T= (p.Pro932=) n.320T= c.4409T= n.3794T= c.5910T= (p.Pro1970=) n.485-8659A= c.4029T= (p.Pro1343=) c.3375T= (p.Pro1125=) | |
12 | g.40363487G>A | CA384413400 | LRRK2 | c.7114G>A (p.Val2372Ile) c.911G>A c.*6023G>A (n.*6023G>A) c.2888G>A c.904G>A c.2559G>A (n.2559G>A) c.4201G>A c.2281G>A (n.2281G>A) c.2571G>A c.6859G>A (p.Val2287Ile) n.3098G>A c.2797G>A (p.Val933Ile) n.321G>A c.4410G>A n.3795G>A c.5911G>A (p.Val1971Ile) n.485-8660C>T c.4030G>A (p.Val1344Ile) c.3376G>A (p.Val1126Ile) | |
12 | g.40363487G>C | CA6514851 | LRRK2 | c.7114G>C (p.Val2372Leu) c.911G>C c.*6023G>C (n.*6023G>C) c.2888G>C c.904G>C c.2559G>C (n.2559G>C) c.4201G>C c.2281G>C (n.2281G>C) c.2571G>C c.6859G>C (p.Val2287Leu) n.3098G>C c.2797G>C (p.Val933Leu) n.321G>C c.4410G>C n.3795G>C c.5911G>C (p.Val1971Leu) n.485-8660C>G c.4030G>C (p.Val1344Leu) c.3376G>C (p.Val1126Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.40363487G= | CA2031025952 | LRRK2 | c.7114G= (p.Val2372=) c.911G= c.*6023G= (n.*6023G=) c.2888G= c.904G= c.2559G= (n.2559G=) c.4201G= c.2281G= (n.2281G=) c.2571G= c.6859G= (p.Val2287=) n.3098G= c.2797G= (p.Val933=) n.321G= c.4410G= n.3795G= c.5911G= (p.Val1971=) n.485-8660C= c.4030G= (p.Val1344=) c.3376G= (p.Val1126=) | |
12 | g.40363487G>T | CA384413403 | LRRK2 | c.7114G>T (p.Val2372Phe) c.911G>T c.*6023G>T (n.*6023G>T) c.2888G>T c.904G>T c.2559G>T (n.2559G>T) c.4201G>T c.2281G>T (n.2281G>T) c.2571G>T c.6859G>T (p.Val2287Phe) n.3098G>T c.2797G>T (p.Val933Phe) n.321G>T c.4410G>T n.3795G>T c.5911G>T (p.Val1971Phe) n.485-8660C>A c.4030G>T (p.Val1344Phe) c.3376G>T (p.Val1126Phe) | |
12 | g.40363488T>A | CA384413404 | LRRK2 | c.7115T>A (p.Val2372Asp) c.912T>A c.*6024T>A (n.*6024T>A) c.2889T>A c.905T>A c.2560T>A (n.2560T>A) c.4202T>A c.2282T>A (n.2282T>A) c.2572T>A c.6860T>A (p.Val2287Asp) n.3099T>A c.2798T>A (p.Val933Asp) n.322T>A c.4411T>A n.3796T>A c.5912T>A (p.Val1971Asp) n.485-8661A>T c.4031T>A (p.Val1344Asp) c.3377T>A (p.Val1126Asp) | |
12 | g.40363488T>C | CA384413406 | LRRK2 | c.7115T>C (p.Val2372Ala) c.912T>C c.*6024T>C (n.*6024T>C) c.2889T>C c.905T>C c.2560T>C (n.2560T>C) c.4202T>C c.2282T>C (n.2282T>C) c.2572T>C c.6860T>C (p.Val2287Ala) n.3099T>C c.2798T>C (p.Val933Ala) n.322T>C c.4411T>C n.3796T>C c.5912T>C (p.Val1971Ala) n.485-8661A>G c.4031T>C (p.Val1344Ala) c.3377T>C (p.Val1126Ala) | |
12 | g.40363488T>G | CA384413408 | LRRK2 | c.7115T>G (p.Val2372Gly) c.912T>G c.*6024T>G (n.*6024T>G) c.2889T>G c.905T>G c.2560T>G (n.2560T>G) c.4202T>G c.2282T>G (n.2282T>G) c.2572T>G c.6860T>G (p.Val2287Gly) n.3099T>G c.2798T>G (p.Val933Gly) n.322T>G c.4411T>G n.3796T>G c.5912T>G (p.Val1971Gly) n.485-8661A>C c.4031T>G (p.Val1344Gly) c.3377T>G (p.Val1126Gly) | |
12 | g.40363489T>A | CA479247450 | LRRK2 | c.7116T>A (p.Val2372=) c.913T>A c.*6025T>A (n.*6025T>A) c.2890T>A c.906T>A c.2561T>A (n.2561T>A) c.4203T>A c.2283T>A (n.2283T>A) c.2573T>A c.6861T>A (p.Val2287=) n.3100T>A c.2799T>A (p.Val933=) n.323T>A c.4412T>A n.3797T>A c.5913T>A (p.Val1971=) n.485-8662A>T c.4032T>A (p.Val1344=) c.3378T>A (p.Val1126=) | |
12 | g.40363489T>C | CA479247448 | LRRK2 | c.7116T>C (p.Val2372=) c.913T>C c.*6025T>C (n.*6025T>C) c.2890T>C c.906T>C c.2561T>C (n.2561T>C) c.4203T>C c.2283T>C (n.2283T>C) c.2573T>C c.6861T>C (p.Val2287=) n.3100T>C c.2799T>C (p.Val933=) n.323T>C c.4412T>C n.3797T>C c.5913T>C (p.Val1971=) n.485-8662A>G c.4032T>C (p.Val1344=) c.3378T>C (p.Val1126=) | |
12 | g.40363489T>G | CA479247445 | LRRK2 | c.7116T>G (p.Val2372=) c.913T>G c.*6025T>G (n.*6025T>G) c.2890T>G c.906T>G c.2561T>G (n.2561T>G) c.4203T>G c.2283T>G (n.2283T>G) c.2573T>G c.6861T>G (p.Val2287=) n.3100T>G c.2799T>G (p.Val933=) n.323T>G c.4412T>G n.3797T>G c.5913T>G (p.Val1971=) n.485-8662A>C c.4032T>G (p.Val1344=) c.3378T>G (p.Val1126=) | |
12 | g.40363490G>A | CA235359656 | LRRK2 | c.7117G>A (p.Val2373Met) c.914G>A c.*6026G>A (n.*6026G>A) c.2891G>A c.907G>A c.2562G>A (n.2562G>A) c.4204G>A c.2284G>A (n.2284G>A) c.2574G>A c.6862G>A (p.Val2288Met) n.3101G>A c.2800G>A (p.Val934Met) n.324G>A c.4413G>A n.3798G>A c.5914G>A (p.Val1972Met) n.485-8663C>T c.4033G>A (p.Val1345Met) c.3379G>A (p.Val1127Met) | dbSNP |
12 | g.40363490G>C | CA384413412 | LRRK2 | c.7117G>C (p.Val2373Leu) c.914G>C c.*6026G>C (n.*6026G>C) c.2891G>C c.907G>C c.2562G>C (n.2562G>C) c.4204G>C c.2284G>C (n.2284G>C) c.2574G>C c.6862G>C (p.Val2288Leu) n.3101G>C c.2800G>C (p.Val934Leu) n.324G>C c.4413G>C n.3798G>C c.5914G>C (p.Val1972Leu) n.485-8663C>G c.4033G>C (p.Val1345Leu) c.3379G>C (p.Val1127Leu) | |
12 | g.40363490G= | CA2031025962 | LRRK2 | c.7117G= (p.Val2373=) c.914G= c.*6026G= (n.*6026G=) c.2891G= c.907G= c.2562G= (n.2562G=) c.4204G= c.2284G= (n.2284G=) c.2574G= c.6862G= (p.Val2288=) n.3101G= c.2800G= (p.Val934=) n.324G= c.4413G= n.3798G= c.5914G= (p.Val1972=) n.485-8663C= c.4033G= (p.Val1345=) c.3379G= (p.Val1127=) | |
12 | g.40363490G>T | CA384413410 | LRRK2 | c.7117G>T (p.Val2373Leu) c.914G>T c.*6026G>T (n.*6026G>T) c.2891G>T c.907G>T c.2562G>T (n.2562G>T) c.4204G>T c.2284G>T (n.2284G>T) c.2574G>T c.6862G>T (p.Val2288Leu) n.3101G>T c.2800G>T (p.Val934Leu) n.324G>T c.4413G>T n.3798G>T c.5914G>T (p.Val1972Leu) n.485-8663C>A c.4033G>T (p.Val1345Leu) c.3379G>T (p.Val1127Leu) | |
12 | g.40363491T>A | CA384413414 | LRRK2 | c.7118T>A (p.Val2373Glu) c.915T>A c.*6027T>A (n.*6027T>A) c.2892T>A c.908T>A c.2563T>A (n.2563T>A) c.4205T>A c.2285T>A (n.2285T>A) c.2575T>A c.6863T>A (p.Val2288Glu) n.3102T>A c.2801T>A (p.Val934Glu) n.325T>A c.4414T>A n.3799T>A c.5915T>A (p.Val1972Glu) n.485-8664A>T c.4034T>A (p.Val1345Glu) c.3380T>A (p.Val1127Glu) | |
12 | g.40363491T>C | CA384413416 | LRRK2 | c.7118T>C (p.Val2373Ala) c.915T>C c.*6027T>C (n.*6027T>C) c.2892T>C c.908T>C c.2563T>C (n.2563T>C) c.4205T>C c.2285T>C (n.2285T>C) c.2575T>C c.6863T>C (p.Val2288Ala) n.3102T>C c.2801T>C (p.Val934Ala) n.325T>C c.4414T>C n.3799T>C c.5915T>C (p.Val1972Ala) n.485-8664A>G c.4034T>C (p.Val1345Ala) c.3380T>C (p.Val1127Ala) | |
12 | g.40363491T>G | CA384413417 | LRRK2 | c.7118T>G (p.Val2373Gly) c.915T>G c.*6027T>G (n.*6027T>G) c.2892T>G c.908T>G c.2563T>G (n.2563T>G) c.4205T>G c.2285T>G (n.2285T>G) c.2575T>G c.6863T>G (p.Val2288Gly) n.3102T>G c.2801T>G (p.Val934Gly) n.325T>G c.4414T>G n.3799T>G c.5915T>G (p.Val1972Gly) n.485-8664A>C c.4034T>G (p.Val1345Gly) c.3380T>G (p.Val1127Gly) | |
12 | g.40363492G>A | CA479247459 | LRRK2 | c.7119G>A (p.Val2373=) c.916G>A c.*6028G>A (n.*6028G>A) c.2893G>A c.909G>A c.2564G>A (n.2564G>A) c.4206G>A c.2286G>A (n.2286G>A) c.2576G>A c.6864G>A (p.Val2288=) n.3103G>A c.2802G>A (p.Val934=) n.326G>A c.4415G>A n.3800G>A c.5916G>A (p.Val1972=) n.485-8665C>T c.4035G>A (p.Val1345=) c.3381G>A (p.Val1127=) | gnomAD v4 |
12 | g.40363492G>C | CA479247461 | LRRK2 | c.7119G>C (p.Val2373=) c.916G>C c.*6028G>C (n.*6028G>C) c.2893G>C c.909G>C c.2564G>C (n.2564G>C) c.4206G>C c.2286G>C (n.2286G>C) c.2576G>C c.6864G>C (p.Val2288=) n.3103G>C c.2802G>C (p.Val934=) n.326G>C c.4415G>C n.3800G>C c.5916G>C (p.Val1972=) n.485-8665C>G c.4035G>C (p.Val1345=) c.3381G>C (p.Val1127=) | |
12 | g.40363492G>T | CA479247462 | LRRK2 | c.7119G>T (p.Val2373=) c.916G>T c.*6028G>T (n.*6028G>T) c.2893G>T c.909G>T c.2564G>T (n.2564G>T) c.4206G>T c.2286G>T (n.2286G>T) c.2576G>T c.6864G>T (p.Val2288=) n.3103G>T c.2802G>T (p.Val934=) n.326G>T c.4415G>T n.3800G>T c.5916G>T (p.Val1972=) n.485-8665C>A c.4035G>T (p.Val1345=) c.3381G>T (p.Val1127=) | |
12 | g.40363493G>A | CA384413418 | LRRK2 | c.7120G>A (p.Glu2374Lys) c.917G>A c.*6029G>A (n.*6029G>A) c.2894G>A c.910G>A c.2565G>A (n.2565G>A) c.4207G>A c.2287G>A (n.2287G>A) c.2577G>A c.6865G>A (p.Glu2289Lys) n.3104G>A c.2803G>A (p.Glu935Lys) n.327G>A c.4416G>A n.3801G>A c.5917G>A (p.Glu1973Lys) n.485-8666C>T c.4036G>A (p.Glu1346Lys) c.3382G>A (p.Glu1128Lys) | |
12 | g.40363493G>C | CA384413420 | LRRK2 | c.7120G>C (p.Glu2374Gln) c.917G>C c.*6029G>C (n.*6029G>C) c.2894G>C c.910G>C c.2565G>C (n.2565G>C) c.4207G>C c.2287G>C (n.2287G>C) c.2577G>C c.6865G>C (p.Glu2289Gln) n.3104G>C c.2803G>C (p.Glu935Gln) n.327G>C c.4416G>C n.3801G>C c.5917G>C (p.Glu1973Gln) n.485-8666C>G c.4036G>C (p.Glu1346Gln) c.3382G>C (p.Glu1128Gln) | |
12 | g.40363493G>T | CA384413422 | LRRK2 | c.7120G>T (p.Glu2374Ter) c.917G>T c.*6029G>T (n.*6029G>T) c.2894G>T c.910G>T c.2565G>T (n.2565G>T) c.4207G>T c.2287G>T (n.2287G>T) c.2577G>T c.6865G>T (p.Glu2289Ter) n.3104G>T c.2803G>T (p.Glu935Ter) n.327G>T c.4416G>T n.3801G>T c.5917G>T (p.Glu1973Ter) n.485-8666C>A c.4036G>T (p.Glu1346Ter) c.3382G>T (p.Glu1128Ter) | |
12 | g.40363494A>C | CA384413423 | LRRK2 | c.7121A>C (p.Glu2374Ala) c.918A>C c.*6030A>C (n.*6030A>C) c.2895A>C c.911A>C c.2566A>C (n.2566A>C) c.4208A>C c.2288A>C (n.2288A>C) c.2578A>C c.6866A>C (p.Glu2289Ala) n.3105A>C c.2804A>C (p.Glu935Ala) n.328A>C c.4417A>C n.3802A>C c.5918A>C (p.Glu1973Ala) n.485-8667T>G c.4037A>C (p.Glu1346Ala) c.3383A>C (p.Glu1128Ala) | |
12 | g.40363494A>G | CA384413425 | LRRK2 | c.7121A>G (p.Glu2374Gly) c.918A>G c.*6030A>G (n.*6030A>G) c.2895A>G c.911A>G c.2566A>G (n.2566A>G) c.4208A>G c.2288A>G (n.2288A>G) c.2578A>G c.6866A>G (p.Glu2289Gly) n.3105A>G c.2804A>G (p.Glu935Gly) n.328A>G c.4417A>G n.3802A>G c.5918A>G (p.Glu1973Gly) n.485-8667T>C c.4037A>G (p.Glu1346Gly) c.3383A>G (p.Glu1128Gly) | COSMIC COSMIC |
12 | g.40363494A>T | CA384413426 | LRRK2 | c.7121A>T (p.Glu2374Val) c.918A>T c.*6030A>T (n.*6030A>T) c.2895A>T c.911A>T c.2566A>T (n.2566A>T) c.4208A>T c.2288A>T (n.2288A>T) c.2578A>T c.6866A>T (p.Glu2289Val) n.3105A>T c.2804A>T (p.Glu935Val) n.328A>T c.4417A>T n.3802A>T c.5918A>T (p.Glu1973Val) n.485-8667T>A c.4037A>T (p.Glu1346Val) c.3383A>T (p.Glu1128Val) | gnomAD v4 |
12 | g.40363495A>C | CA384413427 | LRRK2 | c.7122A>C (p.Glu2374Asp) c.919A>C c.*6031A>C (n.*6031A>C) c.2896A>C c.912A>C c.2567A>C (n.2567A>C) c.4209A>C c.2289A>C (n.2289A>C) c.2579A>C c.6867A>C (p.Glu2289Asp) n.3106A>C c.2805A>C (p.Glu935Asp) n.329A>C c.4418A>C n.3803A>C c.5919A>C (p.Glu1973Asp) n.485-8668T>G c.4038A>C (p.Glu1346Asp) c.3384A>C (p.Glu1128Asp) | |
12 | g.40363495A>G | CA479247472 | LRRK2 | c.7122A>G (p.Glu2374=) c.919A>G c.*6031A>G (n.*6031A>G) c.2896A>G c.912A>G c.2567A>G (n.2567A>G) c.4209A>G c.2289A>G (n.2289A>G) c.2579A>G c.6867A>G (p.Glu2289=) n.3106A>G c.2805A>G (p.Glu935=) n.329A>G c.4418A>G n.3803A>G c.5919A>G (p.Glu1973=) n.485-8668T>C c.4038A>G (p.Glu1346=) c.3384A>G (p.Glu1128=) | ClinVar gnomAD v4 |
12 | g.40363495A>T | CA384413429 | LRRK2 | c.7122A>T (p.Glu2374Asp) c.919A>T c.*6031A>T (n.*6031A>T) c.2896A>T c.912A>T c.2567A>T (n.2567A>T) c.4209A>T c.2289A>T (n.2289A>T) c.2579A>T c.6867A>T (p.Glu2289Asp) n.3106A>T c.2805A>T (p.Glu935Asp) n.329A>T c.4418A>T n.3803A>T c.5919A>T (p.Glu1973Asp) n.485-8668T>A c.4038A>T (p.Glu1346Asp) c.3384A>T (p.Glu1128Asp) | |
12 | g.40363496G>A | CA384413433 | LRRK2 | c.7123G>A (p.Val2375Met) c.920G>A c.*6032G>A (n.*6032G>A) c.2897G>A c.913G>A c.2568G>A (n.2568G>A) c.4210G>A c.2290G>A (n.2290G>A) c.2580G>A c.6868G>A (p.Val2290Met) n.3107G>A c.2806G>A (p.Val936Met) n.330G>A c.4419G>A n.3804G>A c.5920G>A (p.Val1974Met) n.485-8669C>T c.4039G>A (p.Val1347Met) c.3385G>A (p.Val1129Met) | |
12 | g.40363496G>C | CA384413430 | LRRK2 | c.7123G>C (p.Val2375Leu) c.920G>C c.*6032G>C (n.*6032G>C) c.2897G>C c.913G>C c.2568G>C (n.2568G>C) c.4210G>C c.2290G>C (n.2290G>C) c.2580G>C c.6868G>C (p.Val2290Leu) n.3107G>C c.2806G>C (p.Val936Leu) n.330G>C c.4419G>C n.3804G>C c.5920G>C (p.Val1974Leu) n.485-8669C>G c.4039G>C (p.Val1347Leu) c.3385G>C (p.Val1129Leu) | |
12 | g.40363496G>T | CA384413432 | LRRK2 | c.7123G>T (p.Val2375Leu) c.920G>T c.*6032G>T (n.*6032G>T) c.2897G>T c.913G>T c.2568G>T (n.2568G>T) c.4210G>T c.2290G>T (n.2290G>T) c.2580G>T c.6868G>T (p.Val2290Leu) n.3107G>T c.2806G>T (p.Val936Leu) n.330G>T c.4419G>T n.3804G>T c.5920G>T (p.Val1974Leu) n.485-8669C>A c.4039G>T (p.Val1347Leu) c.3385G>T (p.Val1129Leu) | |
12 | g.40363497T>A | CA384413435 | LRRK2 | c.7124T>A (p.Val2375Glu) c.921T>A c.*6033T>A (n.*6033T>A) c.2898T>A c.914T>A c.2569T>A (n.2569T>A) c.4211T>A c.2291T>A (n.2291T>A) c.2581T>A c.6869T>A (p.Val2290Glu) n.3108T>A c.2807T>A (p.Val936Glu) n.331T>A c.4420T>A n.3805T>A c.5921T>A (p.Val1974Glu) n.485-8670A>T c.4040T>A (p.Val1347Glu) c.3386T>A (p.Val1129Glu) | |
12 | g.40363497T>C | CA384413436 | LRRK2 | c.7124T>C (p.Val2375Ala) c.921T>C c.*6033T>C (n.*6033T>C) c.2898T>C c.914T>C c.2569T>C (n.2569T>C) c.4211T>C c.2291T>C (n.2291T>C) c.2581T>C c.6869T>C (p.Val2290Ala) n.3108T>C c.2807T>C (p.Val936Ala) n.331T>C c.4420T>C n.3805T>C c.5921T>C (p.Val1974Ala) n.485-8670A>G c.4040T>C (p.Val1347Ala) c.3386T>C (p.Val1129Ala) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.40363497T>G | CA384413438 | LRRK2 | c.7124T>G (p.Val2375Gly) c.921T>G c.*6033T>G (n.*6033T>G) c.2898T>G c.914T>G c.2569T>G (n.2569T>G) c.4211T>G c.2291T>G (n.2291T>G) c.2581T>G c.6869T>G (p.Val2290Gly) n.3108T>G c.2807T>G (p.Val936Gly) n.331T>G c.4420T>G n.3805T>G c.5921T>G (p.Val1974Gly) n.485-8670A>C c.4040T>G (p.Val1347Gly) c.3386T>G (p.Val1129Gly) | |
12 | g.40363497T= | CA2031025966 | LRRK2 | c.7124T= (p.Val2375=) c.921T= c.*6033T= (n.*6033T=) c.2898T= c.914T= c.2569T= (n.2569T=) c.4211T= c.2291T= (n.2291T=) c.2581T= c.6869T= (p.Val2290=) n.3108T= c.2807T= (p.Val936=) n.331T= c.4420T= n.3805T= c.5921T= (p.Val1974=) n.485-8670A= c.4040T= (p.Val1347=) c.3386T= (p.Val1129=) | |
12 | g.40363498G>A | CA479247481 | LRRK2 | c.7125G>A (p.Val2375=) c.922G>A c.*6034G>A (n.*6034G>A) c.2899G>A c.915G>A c.2570G>A (n.2570G>A) c.4212G>A c.2292G>A (n.2292G>A) c.2582G>A c.6870G>A (p.Val2290=) n.3109G>A c.2808G>A (p.Val936=) n.332G>A c.4421G>A n.3806G>A c.5922G>A (p.Val1974=) n.485-8671C>T c.4041G>A (p.Val1347=) c.3387G>A (p.Val1129=) | |
12 | g.40363498G>C | CA479247482 | LRRK2 | c.7125G>C (p.Val2375=) c.922G>C c.*6034G>C (n.*6034G>C) c.2899G>C c.915G>C c.2570G>C (n.2570G>C) c.4212G>C c.2292G>C (n.2292G>C) c.2582G>C c.6870G>C (p.Val2290=) n.3109G>C c.2808G>C (p.Val936=) n.332G>C c.4421G>C n.3806G>C c.5922G>C (p.Val1974=) n.485-8671C>G c.4041G>C (p.Val1347=) c.3387G>C (p.Val1129=) | |
12 | g.40363498G>T | CA479247483 | LRRK2 | c.7125G>T (p.Val2375=) c.922G>T c.*6034G>T (n.*6034G>T) c.2899G>T c.915G>T c.2570G>T (n.2570G>T) c.4212G>T c.2292G>T (n.2292G>T) c.2582G>T c.6870G>T (p.Val2290=) n.3109G>T c.2808G>T (p.Val936=) n.332G>T c.4421G>T n.3806G>T c.5922G>T (p.Val1974=) n.485-8671C>A c.4041G>T (p.Val1347=) c.3387G>T (p.Val1129=) | |
12 | g.40363499T>A | CA384413440 | LRRK2 | c.7126T>A (p.Trp2376Arg) c.923T>A c.*6035T>A (n.*6035T>A) c.2900T>A c.916T>A c.2571T>A (n.2571T>A) c.4213T>A c.2293T>A (n.2293T>A) c.2583T>A c.6871T>A (p.Trp2291Arg) n.3110T>A c.2809T>A (p.Trp937Arg) n.333T>A c.4422T>A n.3807T>A c.5923T>A (p.Trp1975Arg) n.485-8672A>T c.4042T>A (p.Trp1348Arg) c.3388T>A (p.Trp1130Arg) | |
12 | g.40363499T>C | CA384413441 | LRRK2 | c.7126T>C (p.Trp2376Arg) c.923T>C c.*6035T>C (n.*6035T>C) c.2900T>C c.916T>C c.2571T>C (n.2571T>C) c.4213T>C c.2293T>C (n.2293T>C) c.2583T>C c.6871T>C (p.Trp2291Arg) n.3110T>C c.2809T>C (p.Trp937Arg) n.333T>C c.4422T>C n.3807T>C c.5923T>C (p.Trp1975Arg) n.485-8672A>G c.4042T>C (p.Trp1348Arg) c.3388T>C (p.Trp1130Arg) | gnomAD v4 |
12 | g.40363499T>G | CA384413443 | LRRK2 | c.7126T>G (p.Trp2376Gly) c.923T>G c.*6035T>G (n.*6035T>G) c.2900T>G c.916T>G c.2571T>G (n.2571T>G) c.4213T>G c.2293T>G (n.2293T>G) c.2583T>G c.6871T>G (p.Trp2291Gly) n.3110T>G c.2809T>G (p.Trp937Gly) n.333T>G c.4422T>G n.3807T>G c.5923T>G (p.Trp1975Gly) n.485-8672A>C c.4042T>G (p.Trp1348Gly) c.3388T>G (p.Trp1130Gly) | |
12 | g.40363500G>A | CA384413444 | LRRK2 | c.7127G>A (p.Trp2376Ter) c.924G>A c.*6036G>A (n.*6036G>A) c.2901G>A c.917G>A c.2572G>A (n.2572G>A) c.4214G>A c.2294G>A (n.2294G>A) c.2584G>A c.6872G>A (p.Trp2291Ter) n.3111G>A c.2810G>A (p.Trp937Ter) n.334G>A c.4423G>A n.3808G>A c.5924G>A (p.Trp1975Ter) n.485-8673C>T c.4043G>A (p.Trp1348Ter) c.3389G>A (p.Trp1130Ter) | |
12 | g.40363500G>C | CA384413446 | LRRK2 | c.7127G>C (p.Trp2376Ser) c.924G>C c.*6036G>C (n.*6036G>C) c.2901G>C c.917G>C c.2572G>C (n.2572G>C) c.4214G>C c.2294G>C (n.2294G>C) c.2584G>C c.6872G>C (p.Trp2291Ser) n.3111G>C c.2810G>C (p.Trp937Ser) n.334G>C c.4423G>C n.3808G>C c.5924G>C (p.Trp1975Ser) n.485-8673C>G c.4043G>C (p.Trp1348Ser) c.3389G>C (p.Trp1130Ser) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.40363500G= | CA2031025970 | LRRK2 | c.7127G= (p.Trp2376=) c.924G= c.*6036G= (n.*6036G=) c.2901G= c.917G= c.2572G= (n.2572G=) c.4214G= c.2294G= (n.2294G=) c.2584G= c.6872G= (p.Trp2291=) n.3111G= c.2810G= (p.Trp937=) n.334G= c.4423G= n.3808G= c.5924G= (p.Trp1975=) n.485-8673C= c.4043G= (p.Trp1348=) c.3389G= (p.Trp1130=) | |
12 | g.40363500G>T | CA384413447 | LRRK2 | c.7127G>T (p.Trp2376Leu) c.924G>T c.*6036G>T (n.*6036G>T) c.2901G>T c.917G>T c.2572G>T (n.2572G>T) c.4214G>T c.2294G>T (n.2294G>T) c.2584G>T c.6872G>T (p.Trp2291Leu) n.3111G>T c.2810G>T (p.Trp937Leu) n.334G>T c.4423G>T n.3808G>T c.5924G>T (p.Trp1975Leu) n.485-8673C>A c.4043G>T (p.Trp1348Leu) c.3389G>T (p.Trp1130Leu) | dbSNP |
12 | g.40363501G>A | CA384413449 | LRRK2 | c.7128G>A (p.Trp2376Ter) c.925G>A c.*6037G>A (n.*6037G>A) c.2902G>A c.918G>A c.2573G>A (n.2573G>A) c.4215G>A c.2295G>A (n.2295G>A) c.2585G>A c.6873G>A (p.Trp2291Ter) n.3112G>A c.2811G>A (p.Trp937Ter) n.335G>A c.4424G>A n.3809G>A c.5925G>A (p.Trp1975Ter) n.485-8674C>T c.4044G>A (p.Trp1348Ter) c.3390G>A (p.Trp1130Ter) | gnomAD v4 |
12 | g.40363501G>C | CA384413451 | LRRK2 | c.7128G>C (p.Trp2376Cys) c.925G>C c.*6037G>C (n.*6037G>C) c.2902G>C c.918G>C c.2573G>C (n.2573G>C) c.4215G>C c.2295G>C (n.2295G>C) c.2585G>C c.6873G>C (p.Trp2291Cys) n.3112G>C c.2811G>C (p.Trp937Cys) n.335G>C c.4424G>C n.3809G>C c.5925G>C (p.Trp1975Cys) n.485-8674C>G c.4044G>C (p.Trp1348Cys) c.3390G>C (p.Trp1130Cys) | |
12 | g.40363501G>T | CA384413453 | LRRK2 | c.7128G>T (p.Trp2376Cys) c.925G>T c.*6037G>T (n.*6037G>T) c.2902G>T c.918G>T c.2573G>T (n.2573G>T) c.4215G>T c.2295G>T (n.2295G>T) c.2585G>T c.6873G>T (p.Trp2291Cys) n.3112G>T c.2811G>T (p.Trp937Cys) n.335G>T c.4424G>T n.3809G>T c.5925G>T (p.Trp1975Cys) n.485-8674C>A c.4044G>T (p.Trp1348Cys) c.3390G>T (p.Trp1130Cys) | |
12 | g.40363502G>A | CA384413457 | LRRK2 | c.7129G>A (p.Asp2377Asn) c.926G>A c.*6038G>A (n.*6038G>A) c.2903G>A c.919G>A c.2574G>A (n.2574G>A) c.4216G>A c.2296G>A (n.2296G>A) c.2586G>A c.6874G>A (p.Asp2292Asn) n.3113G>A c.2812G>A (p.Asp938Asn) n.336G>A c.4425G>A n.3810G>A c.5926G>A (p.Asp1976Asn) n.485-8675C>T c.4045G>A (p.Asp1349Asn) c.3391G>A (p.Asp1131Asn) | |
12 | g.40363502G>C | CA384413456 | LRRK2 | c.7129G>C (p.Asp2377His) c.926G>C c.*6038G>C (n.*6038G>C) c.2903G>C c.919G>C c.2574G>C (n.2574G>C) c.4216G>C c.2296G>C (n.2296G>C) c.2586G>C c.6874G>C (p.Asp2292His) n.3113G>C c.2812G>C (p.Asp938His) n.336G>C c.4425G>C n.3810G>C c.5926G>C (p.Asp1976His) n.485-8675C>G c.4045G>C (p.Asp1349His) c.3391G>C (p.Asp1131His) | |
12 | g.40363502G>T | CA384413454 | LRRK2 | c.7129G>T (p.Asp2377Tyr) c.926G>T c.*6038G>T (n.*6038G>T) c.2903G>T c.919G>T c.2574G>T (n.2574G>T) c.4216G>T c.2296G>T (n.2296G>T) c.2586G>T c.6874G>T (p.Asp2292Tyr) n.3113G>T c.2812G>T (p.Asp938Tyr) n.336G>T c.4425G>T n.3810G>T c.5926G>T (p.Asp1976Tyr) n.485-8675C>A c.4045G>T (p.Asp1349Tyr) c.3391G>T (p.Asp1131Tyr) | |
12 | g.40363503A>C | CA384413459 | LRRK2 | c.7130A>C (p.Asp2377Ala) c.927A>C c.*6039A>C (n.*6039A>C) c.2904A>C c.920A>C c.2575A>C (n.2575A>C) c.4217A>C c.2297A>C (n.2297A>C) c.2587A>C c.6875A>C (p.Asp2292Ala) n.3114A>C c.2813A>C (p.Asp938Ala) n.337A>C c.4426A>C n.3811A>C c.5927A>C (p.Asp1976Ala) n.485-8676T>G c.4046A>C (p.Asp1349Ala) c.3392A>C (p.Asp1131Ala) | |
12 | g.40363503A>G | CA384413460 | LRRK2 | c.7130A>G (p.Asp2377Gly) c.927A>G c.*6039A>G (n.*6039A>G) c.2904A>G c.920A>G c.2575A>G (n.2575A>G) c.4217A>G c.2297A>G (n.2297A>G) c.2587A>G c.6875A>G (p.Asp2292Gly) n.3114A>G c.2813A>G (p.Asp938Gly) n.337A>G c.4426A>G n.3811A>G c.5927A>G (p.Asp1976Gly) n.485-8676T>C c.4046A>G (p.Asp1349Gly) c.3392A>G (p.Asp1131Gly) | |
12 | g.40363503A>T | CA384413461 | LRRK2 | c.7130A>T (p.Asp2377Val) c.927A>T c.*6039A>T (n.*6039A>T) c.2904A>T c.920A>T c.2575A>T (n.2575A>T) c.4217A>T c.2297A>T (n.2297A>T) c.2587A>T c.6875A>T (p.Asp2292Val) n.3114A>T c.2813A>T (p.Asp938Val) n.337A>T c.4426A>T n.3811A>T c.5927A>T (p.Asp1976Val) n.485-8676T>A c.4046A>T (p.Asp1349Val) c.3392A>T (p.Asp1131Val) | |
12 | g.40363504T>A | CA384413462 | LRRK2 | c.7131T>A (p.Asp2377Glu) c.928T>A c.*6040T>A (n.*6040T>A) c.2905T>A c.921T>A c.2576T>A (n.2576T>A) c.4218T>A c.2298T>A (n.2298T>A) c.2588T>A c.6876T>A (p.Asp2292Glu) n.3115T>A c.2814T>A (p.Asp938Glu) n.338T>A c.4427T>A n.3812T>A c.5928T>A (p.Asp1976Glu) n.485-8677A>T c.4047T>A (p.Asp1349Glu) c.3393T>A (p.Asp1131Glu) | ClinVar |
12 | g.40363504T>C | CA479247501 | LRRK2 | c.7131T>C (p.Asp2377=) c.928T>C c.*6040T>C (n.*6040T>C) c.2905T>C c.921T>C c.2576T>C (n.2576T>C) c.4218T>C c.2298T>C (n.2298T>C) c.2588T>C c.6876T>C (p.Asp2292=) n.3115T>C c.2814T>C (p.Asp938=) n.338T>C c.4427T>C n.3812T>C c.5928T>C (p.Asp1976=) n.485-8677A>G c.4047T>C (p.Asp1349=) c.3393T>C (p.Asp1131=) | |
12 | g.40363504T>G | CA384413463 | LRRK2 | c.7131T>G (p.Asp2377Glu) c.928T>G c.*6040T>G (n.*6040T>G) c.2905T>G c.921T>G c.2576T>G (n.2576T>G) c.4218T>G c.2298T>G (n.2298T>G) c.2588T>G c.6876T>G (p.Asp2292Glu) n.3115T>G c.2814T>G (p.Asp938Glu) n.338T>G c.4427T>G n.3812T>G c.5928T>G (p.Asp1976Glu) n.485-8677A>C c.4047T>G (p.Asp1349Glu) c.3393T>G (p.Asp1131Glu) | |
12 | g.40363505A= | CA2031025974 | LRRK2 | c.7132A= (p.Lys2378=) c.929A= c.*6041A= (n.*6041A=) c.2906A= c.922A= c.2577A= (n.2577A=) c.4219A= c.2299A= (n.2299A=) c.2589A= c.6877A= (p.Lys2293=) n.3116A= c.2815A= (p.Lys939=) n.339A= c.4428A= n.3813A= c.5929A= (p.Lys1977=) n.485-8678T= c.4048A= (p.Lys1350=) c.3394A= (p.Lys1132=) | |
12 | g.40363505A>C | CA384413465 | LRRK2 | c.7132A>C (p.Lys2378Gln) c.929A>C c.*6041A>C (n.*6041A>C) c.2906A>C c.922A>C c.2577A>C (n.2577A>C) c.4219A>C c.2299A>C (n.2299A>C) c.2589A>C c.6877A>C (p.Lys2293Gln) n.3116A>C c.2815A>C (p.Lys939Gln) n.339A>C c.4428A>C n.3813A>C c.5929A>C (p.Lys1977Gln) n.485-8678T>G c.4048A>C (p.Lys1350Gln) c.3394A>C (p.Lys1132Gln) | |
12 | g.40363505A>G | CA384413466 | LRRK2 | c.7132A>G (p.Lys2378Glu) c.929A>G c.*6041A>G (n.*6041A>G) c.2906A>G c.922A>G c.2577A>G (n.2577A>G) c.4219A>G c.2299A>G (n.2299A>G) c.2589A>G c.6877A>G (p.Lys2293Glu) n.3116A>G c.2815A>G (p.Lys939Glu) n.339A>G c.4428A>G n.3813A>G c.5929A>G (p.Lys1977Glu) n.485-8678T>C c.4048A>G (p.Lys1350Glu) c.3394A>G (p.Lys1132Glu) | dbSNP COSMIC COSMIC |
12 | g.40363505A>T | CA384413468 | LRRK2 | c.7132A>T (p.Lys2378Ter) c.929A>T c.*6041A>T (n.*6041A>T) c.2906A>T c.922A>T c.2577A>T (n.2577A>T) c.4219A>T c.2299A>T (n.2299A>T) c.2589A>T c.6877A>T (p.Lys2293Ter) n.3116A>T c.2815A>T (p.Lys939Ter) n.339A>T c.4428A>T n.3813A>T c.5929A>T (p.Lys1977Ter) n.485-8678T>A c.4048A>T (p.Lys1350Ter) c.3394A>T (p.Lys1132Ter) | |
12 | g.40363506A= | CA2031025991 | LRRK2 | c.7133A= (p.Lys2378=) c.930A= c.*6042A= (n.*6042A=) c.2907A= c.923A= c.2578A= (n.2578A=) c.4220A= c.2300A= (n.2300A=) c.2590A= c.6878A= (p.Lys2293=) n.3117A= c.2816A= (p.Lys939=) n.340A= c.4429A= n.3814A= c.5930A= (p.Lys1977=) n.485-8679T= c.4049A= (p.Lys1350=) c.3395A= (p.Lys1132=) | |
12 | g.40363506A>C | CA384413470 | LRRK2 | c.7133A>C (p.Lys2378Thr) c.930A>C c.*6042A>C (n.*6042A>C) c.2907A>C c.923A>C c.2578A>C (n.2578A>C) c.4220A>C c.2300A>C (n.2300A>C) c.2590A>C c.6878A>C (p.Lys2293Thr) n.3117A>C c.2816A>C (p.Lys939Thr) n.340A>C c.4429A>C n.3814A>C c.5930A>C (p.Lys1977Thr) n.485-8679T>G c.4049A>C (p.Lys1350Thr) c.3395A>C (p.Lys1132Thr) | |
12 | g.40363506A>G | CA384413471 | LRRK2 | c.7133A>G (p.Lys2378Arg) c.930A>G c.*6042A>G (n.*6042A>G) c.2907A>G c.923A>G c.2578A>G (n.2578A>G) c.4220A>G c.2300A>G (n.2300A>G) c.2590A>G c.6878A>G (p.Lys2293Arg) n.3117A>G c.2816A>G (p.Lys939Arg) n.340A>G c.4429A>G n.3814A>G c.5930A>G (p.Lys1977Arg) n.485-8679T>C c.4049A>G (p.Lys1350Arg) c.3395A>G (p.Lys1132Arg) | dbSNP COSMIC COSMIC |
12 | g.40363506A>T | CA384413473 | LRRK2 | c.7133A>T (p.Lys2378Met) c.930A>T c.*6042A>T (n.*6042A>T) c.2907A>T c.923A>T c.2578A>T (n.2578A>T) c.4220A>T c.2300A>T (n.2300A>T) c.2590A>T c.6878A>T (p.Lys2293Met) n.3117A>T c.2816A>T (p.Lys939Met) n.340A>T c.4429A>T n.3814A>T c.5930A>T (p.Lys1977Met) n.485-8679T>A c.4049A>T (p.Lys1350Met) c.3395A>T (p.Lys1132Met) | |
12 | g.40363507G>A | CA479247508 | LRRK2 | c.7134G>A (p.Lys2378=) c.931G>A c.*6043G>A (n.*6043G>A) c.2908G>A c.924G>A c.2579G>A (n.2579G>A) c.4221G>A c.2301G>A (n.2301G>A) c.2591G>A c.6879G>A (p.Lys2293=) n.3118G>A c.2817G>A (p.Lys939=) n.341G>A c.4430G>A n.3815G>A c.5931G>A (p.Lys1977=) n.485-8680C>T c.4050G>A (p.Lys1350=) c.3396G>A (p.Lys1132=) | gnomAD v4 COSMIC COSMIC |
12 | g.40363507G>C | CA384413474 | LRRK2 | c.7134G>C (p.Lys2378Asn) c.931G>C c.*6043G>C (n.*6043G>C) c.2908G>C c.924G>C c.2579G>C (n.2579G>C) c.4221G>C c.2301G>C (n.2301G>C) c.2591G>C c.6879G>C (p.Lys2293Asn) n.3118G>C c.2817G>C (p.Lys939Asn) n.341G>C c.4430G>C n.3815G>C c.5931G>C (p.Lys1977Asn) n.485-8680C>G c.4050G>C (p.Lys1350Asn) c.3396G>C (p.Lys1132Asn) | gnomAD v4 |
12 | g.40363507G>T | CA384413476 | LRRK2 | c.7134G>T (p.Lys2378Asn) c.931G>T c.*6043G>T (n.*6043G>T) c.2908G>T c.924G>T c.2579G>T (n.2579G>T) c.4221G>T c.2301G>T (n.2301G>T) c.2591G>T c.6879G>T (p.Lys2293Asn) n.3118G>T c.2817G>T (p.Lys939Asn) n.341G>T c.4430G>T n.3815G>T c.5931G>T (p.Lys1977Asn) n.485-8680C>A c.4050G>T (p.Lys1350Asn) c.3396G>T (p.Lys1132Asn) | |
12 | g.40363508A>C | CA384413480 | LRRK2 | c.7135A>C (p.Lys2379Gln) c.932A>C c.*6044A>C (n.*6044A>C) c.2909A>C c.925A>C c.2580A>C (n.2580A>C) c.4222A>C c.2302A>C (n.2302A>C) c.2592A>C c.6880A>C (p.Lys2294Gln) n.3119A>C c.2818A>C (p.Lys940Gln) n.342A>C c.4431A>C n.3816A>C c.5932A>C (p.Lys1978Gln) n.485-8681T>G c.4051A>C (p.Lys1351Gln) c.3397A>C (p.Lys1133Gln) | |
12 | g.40363508A>G | CA384413479 | LRRK2 | c.7135A>G (p.Lys2379Glu) c.932A>G c.*6044A>G (n.*6044A>G) c.2909A>G c.925A>G c.2580A>G (n.2580A>G) c.4222A>G c.2302A>G (n.2302A>G) c.2592A>G c.6880A>G (p.Lys2294Glu) n.3119A>G c.2818A>G (p.Lys940Glu) n.342A>G c.4431A>G n.3816A>G c.5932A>G (p.Lys1978Glu) n.485-8681T>C c.4051A>G (p.Lys1351Glu) c.3397A>G (p.Lys1133Glu) | |
12 | g.40363508A>T | CA384413478 | LRRK2 | c.7135A>T (p.Lys2379Ter) c.932A>T c.*6044A>T (n.*6044A>T) c.2909A>T c.925A>T c.2580A>T (n.2580A>T) c.4222A>T c.2302A>T (n.2302A>T) c.2592A>T c.6880A>T (p.Lys2294Ter) n.3119A>T c.2818A>T (p.Lys940Ter) n.342A>T c.4431A>T n.3816A>T c.5932A>T (p.Lys1978Ter) n.485-8681T>A c.4051A>T (p.Lys1351Ter) c.3397A>T (p.Lys1133Ter) | |
12 | g.40363509A>C | CA384413482 | LRRK2 | c.7136A>C (p.Lys2379Thr) c.933A>C c.*6045A>C (n.*6045A>C) c.2910A>C c.926A>C c.2581A>C (n.2581A>C) c.4223A>C c.2303A>C (n.2303A>C) c.2593A>C c.6881A>C (p.Lys2294Thr) n.3120A>C c.2819A>C (p.Lys940Thr) n.343A>C c.4432A>C n.3817A>C c.5933A>C (p.Lys1978Thr) n.485-8682T>G c.4052A>C (p.Lys1351Thr) c.3398A>C (p.Lys1133Thr) | |
12 | g.40363509A>G | CA384413485 | LRRK2 | c.7136A>G (p.Lys2379Arg) c.933A>G c.*6045A>G (n.*6045A>G) c.2910A>G c.926A>G c.2581A>G (n.2581A>G) c.4223A>G c.2303A>G (n.2303A>G) c.2593A>G c.6881A>G (p.Lys2294Arg) n.3120A>G c.2819A>G (p.Lys940Arg) n.343A>G c.4432A>G n.3817A>G c.5933A>G (p.Lys1978Arg) n.485-8682T>C c.4052A>G (p.Lys1351Arg) c.3398A>G (p.Lys1133Arg) | |
12 | g.40363509A>T | CA384413483 | LRRK2 | c.7136A>T (p.Lys2379Ile) c.933A>T c.*6045A>T (n.*6045A>T) c.2910A>T c.926A>T c.2581A>T (n.2581A>T) c.4223A>T c.2303A>T (n.2303A>T) c.2593A>T c.6881A>T (p.Lys2294Ile) n.3120A>T c.2819A>T (p.Lys940Ile) n.343A>T c.4432A>T n.3817A>T c.5933A>T (p.Lys1978Ile) n.485-8682T>A c.4052A>T (p.Lys1351Ile) c.3398A>T (p.Lys1133Ile) | |
12 | g.40363510A>C | CA384413487 | LRRK2 | c.7137A>C (p.Lys2379Asn) c.934A>C c.*6046A>C (n.*6046A>C) c.2911A>C c.927A>C c.2582A>C (n.2582A>C) c.4224A>C c.2304A>C (n.2304A>C) c.2594A>C c.6882A>C (p.Lys2294Asn) n.3121A>C c.2820A>C (p.Lys940Asn) n.344A>C c.4433A>C n.3818A>C c.5934A>C (p.Lys1978Asn) n.485-8683T>G c.4053A>C (p.Lys1351Asn) c.3399A>C (p.Lys1133Asn) | |
12 | g.40363510A>G | CA479247518 | LRRK2 | c.7137A>G (p.Lys2379=) c.934A>G c.*6046A>G (n.*6046A>G) c.2911A>G c.927A>G c.2582A>G (n.2582A>G) c.4224A>G c.2304A>G (n.2304A>G) c.2594A>G c.6882A>G (p.Lys2294=) n.3121A>G c.2820A>G (p.Lys940=) n.344A>G c.4433A>G n.3818A>G c.5934A>G (p.Lys1978=) n.485-8683T>C c.4053A>G (p.Lys1351=) c.3399A>G (p.Lys1133=) | |
12 | g.40363510A>T | CA384413488 | LRRK2 | c.7137A>T (p.Lys2379Asn) c.934A>T c.*6046A>T (n.*6046A>T) c.2911A>T c.927A>T c.2582A>T (n.2582A>T) c.4224A>T c.2304A>T (n.2304A>T) c.2594A>T c.6882A>T (p.Lys2294Asn) n.3121A>T c.2820A>T (p.Lys940Asn) n.344A>T c.4433A>T n.3818A>T c.5934A>T (p.Lys1978Asn) n.485-8683T>A c.4053A>T (p.Lys1351Asn) c.3399A>T (p.Lys1133Asn) | |
12 | g.40363511A>C | CA384413490 | LRRK2 | c.7138A>C (p.Thr2380Pro) c.935A>C c.*6047A>C (n.*6047A>C) c.2912A>C c.928A>C c.2583A>C (n.2583A>C) c.4225A>C c.2305A>C (n.2305A>C) c.2595A>C c.6883A>C (p.Thr2295Pro) n.3122A>C c.2821A>C (p.Thr941Pro) n.345A>C c.4434A>C n.3819A>C c.5935A>C (p.Thr1979Pro) n.485-8684T>G c.4054A>C (p.Thr1352Pro) c.3400A>C (p.Thr1134Pro) | |
12 | g.40363511A>G | CA384413492 | LRRK2 | c.7138A>G (p.Thr2380Ala) c.935A>G c.*6047A>G (n.*6047A>G) c.2912A>G c.928A>G c.2583A>G (n.2583A>G) c.4225A>G c.2305A>G (n.2305A>G) c.2595A>G c.6883A>G (p.Thr2295Ala) n.3122A>G c.2821A>G (p.Thr941Ala) n.345A>G c.4434A>G n.3819A>G c.5935A>G (p.Thr1979Ala) n.485-8684T>C c.4054A>G (p.Thr1352Ala) c.3400A>G (p.Thr1134Ala) | gnomAD v4 |
12 | g.40363511A>T | CA384413494 | LRRK2 | c.7138A>T (p.Thr2380Ser) c.935A>T c.*6047A>T (n.*6047A>T) c.2912A>T c.928A>T c.2583A>T (n.2583A>T) c.4225A>T c.2305A>T (n.2305A>T) c.2595A>T c.6883A>T (p.Thr2295Ser) n.3122A>T c.2821A>T (p.Thr941Ser) n.345A>T c.4434A>T n.3819A>T c.5935A>T (p.Thr1979Ser) n.485-8684T>A c.4054A>T (p.Thr1352Ser) c.3400A>T (p.Thr1134Ser) | |
12 | g.40363512C>A | CA384413495 | LRRK2 | c.7139C>A (p.Thr2380Asn) c.936C>A c.*6048C>A (n.*6048C>A) c.2913C>A c.929C>A c.2584C>A (n.2584C>A) c.4226C>A c.2306C>A (n.2306C>A) c.2596C>A c.6884C>A (p.Thr2295Asn) n.3123C>A c.2822C>A (p.Thr941Asn) n.346C>A c.4435C>A n.3820C>A c.5936C>A (p.Thr1979Asn) n.485-8685G>T c.4055C>A (p.Thr1352Asn) c.3401C>A (p.Thr1134Asn) | |
12 | g.40363512C>G | CA384413497 | LRRK2 | c.7139C>G (p.Thr2380Ser) c.936C>G c.*6048C>G (n.*6048C>G) c.2913C>G c.929C>G c.2584C>G (n.2584C>G) c.4226C>G c.2306C>G (n.2306C>G) c.2596C>G c.6884C>G (p.Thr2295Ser) n.3123C>G c.2822C>G (p.Thr941Ser) n.346C>G c.4435C>G n.3820C>G c.5936C>G (p.Thr1979Ser) n.485-8685G>C c.4055C>G (p.Thr1352Ser) c.3401C>G (p.Thr1134Ser) | |
12 | g.40363512C>T | CA384413499 | LRRK2 | c.7139C>T (p.Thr2380Ile) c.936C>T c.*6048C>T (n.*6048C>T) c.2913C>T c.929C>T c.2584C>T (n.2584C>T) c.4226C>T c.2306C>T (n.2306C>T) c.2596C>T c.6884C>T (p.Thr2295Ile) n.3123C>T c.2822C>T (p.Thr941Ile) n.346C>T c.4435C>T n.3820C>T c.5936C>T (p.Thr1979Ile) n.485-8685G>A c.4055C>T (p.Thr1352Ile) c.3401C>T (p.Thr1134Ile) | gnomAD v4 |
12 | g.40363513T>A | CA479247528 | LRRK2 | c.7140T>A (p.Thr2380=) c.937T>A c.*6049T>A (n.*6049T>A) c.2914T>A c.930T>A c.2585T>A (n.2585T>A) c.4227T>A c.2307T>A (n.2307T>A) c.2597T>A c.6885T>A (p.Thr2295=) n.3124T>A c.2823T>A (p.Thr941=) n.347T>A c.4436T>A n.3821T>A c.5937T>A (p.Thr1979=) n.485-8686A>T c.4056T>A (p.Thr1352=) c.3402T>A (p.Thr1134=) | |
12 | g.40363513T>C | CA479247530 | LRRK2 | c.7140T>C (p.Thr2380=) c.937T>C c.*6049T>C (n.*6049T>C) c.2914T>C c.930T>C c.2585T>C (n.2585T>C) c.4227T>C c.2307T>C (n.2307T>C) c.2597T>C c.6885T>C (p.Thr2295=) n.3124T>C c.2823T>C (p.Thr941=) n.347T>C c.4436T>C n.3821T>C c.5937T>C (p.Thr1979=) n.485-8686A>G c.4056T>C (p.Thr1352=) c.3402T>C (p.Thr1134=) | |
12 | g.40363513T>G | CA479247532 | LRRK2 | c.7140T>G (p.Thr2380=) c.937T>G c.*6049T>G (n.*6049T>G) c.2914T>G c.930T>G c.2585T>G (n.2585T>G) c.4227T>G c.2307T>G (n.2307T>G) c.2597T>G c.6885T>G (p.Thr2295=) n.3124T>G c.2823T>G (p.Thr941=) n.347T>G c.4436T>G n.3821T>G c.5937T>G (p.Thr1979=) n.485-8686A>C c.4056T>G (p.Thr1352=) c.3402T>G (p.Thr1134=) | |
12 | g.40363514G>A | CA384413500 | LRRK2 | c.7141G>A (p.Glu2381Lys) c.938G>A c.*6050G>A (n.*6050G>A) c.2915G>A c.931G>A c.2586G>A (n.2586G>A) c.4228G>A c.2308G>A (n.2308G>A) c.2598G>A c.6886G>A (p.Glu2296Lys) n.3125G>A c.2824G>A (p.Glu942Lys) n.348G>A c.4437G>A n.3822G>A c.5938G>A (p.Glu1980Lys) n.485-8687C>T c.4057G>A (p.Glu1353Lys) c.3403G>A (p.Glu1135Lys) | |
12 | g.40363514G>C | CA384413502 | LRRK2 | c.7141G>C (p.Glu2381Gln) c.938G>C c.*6050G>C (n.*6050G>C) c.2915G>C c.931G>C c.2586G>C (n.2586G>C) c.4228G>C c.2308G>C (n.2308G>C) c.2598G>C c.6886G>C (p.Glu2296Gln) n.3125G>C c.2824G>C (p.Glu942Gln) n.348G>C c.4437G>C n.3822G>C c.5938G>C (p.Glu1980Gln) n.485-8687C>G c.4057G>C (p.Glu1353Gln) c.3403G>C (p.Glu1135Gln) | |
12 | g.40363514G>T | CA384413503 | LRRK2 | c.7141G>T (p.Glu2381Ter) c.938G>T c.*6050G>T (n.*6050G>T) c.2915G>T c.931G>T c.2586G>T (n.2586G>T) c.4228G>T c.2308G>T (n.2308G>T) c.2598G>T c.6886G>T (p.Glu2296Ter) n.3125G>T c.2824G>T (p.Glu942Ter) n.348G>T c.4437G>T n.3822G>T c.5938G>T (p.Glu1980Ter) n.485-8687C>A c.4057G>T (p.Glu1353Ter) c.3403G>T (p.Glu1135Ter) | |
12 | g.40363515A>C | CA384413505 | LRRK2 | c.7142A>C (p.Glu2381Ala) c.939A>C c.*6051A>C (n.*6051A>C) c.2916A>C c.932A>C c.2587A>C (n.2587A>C) c.4229A>C c.2309A>C (n.2309A>C) c.2599A>C c.6887A>C (p.Glu2296Ala) n.3126A>C c.2825A>C (p.Glu942Ala) n.349A>C c.4438A>C n.3823A>C c.5939A>C (p.Glu1980Ala) n.485-8688T>G c.4058A>C (p.Glu1353Ala) c.3404A>C (p.Glu1135Ala) | |
12 | g.40363515A>G | CA384413507 | LRRK2 | c.7142A>G (p.Glu2381Gly) c.939A>G c.*6051A>G (n.*6051A>G) c.2916A>G c.932A>G c.2587A>G (n.2587A>G) c.4229A>G c.2309A>G (n.2309A>G) c.2599A>G c.6887A>G (p.Glu2296Gly) n.3126A>G c.2825A>G (p.Glu942Gly) n.349A>G c.4438A>G n.3823A>G c.5939A>G (p.Glu1980Gly) n.485-8688T>C c.4058A>G (p.Glu1353Gly) c.3404A>G (p.Glu1135Gly) | |
12 | g.40363515A>T | CA384413509 | LRRK2 | c.7142A>T (p.Glu2381Val) c.939A>T c.*6051A>T (n.*6051A>T) c.2916A>T c.932A>T c.2587A>T (n.2587A>T) c.4229A>T c.2309A>T (n.2309A>T) c.2599A>T c.6887A>T (p.Glu2296Val) n.3126A>T c.2825A>T (p.Glu942Val) n.349A>T c.4438A>T n.3823A>T c.5939A>T (p.Glu1980Val) n.485-8688T>A c.4058A>T (p.Glu1353Val) c.3404A>T (p.Glu1135Val) | |
12 | g.40363516A= | CA2031025998 | LRRK2 | c.7143A= (p.Glu2381=) c.940A= c.*6052A= (n.*6052A=) c.2917A= c.933A= c.2588A= (n.2588A=) c.4230A= c.2310A= (n.2310A=) c.2600A= c.6888A= (p.Glu2296=) n.3127A= c.2826A= (p.Glu942=) n.350A= c.4439A= n.3824A= c.5940A= (p.Glu1980=) n.485-8689T= c.4059A= (p.Glu1353=) c.3405A= (p.Glu1135=) | |
12 | g.40363516A>C | CA384413512 | LRRK2 | c.7143A>C (p.Glu2381Asp) c.940A>C c.*6052A>C (n.*6052A>C) c.2917A>C c.933A>C c.2588A>C (n.2588A>C) c.4230A>C c.2310A>C (n.2310A>C) c.2600A>C c.6888A>C (p.Glu2296Asp) n.3127A>C c.2826A>C (p.Glu942Asp) n.350A>C c.4439A>C n.3824A>C c.5940A>C (p.Glu1980Asp) n.485-8689T>G c.4059A>C (p.Glu1353Asp) c.3405A>C (p.Glu1135Asp) | |
12 | g.40363516A>G | CA479247541 | LRRK2 | c.7143A>G (p.Glu2381=) c.940A>G c.*6052A>G (n.*6052A>G) c.2917A>G c.933A>G c.2588A>G (n.2588A>G) c.4230A>G c.2310A>G (n.2310A>G) c.2600A>G c.6888A>G (p.Glu2296=) n.3127A>G c.2826A>G (p.Glu942=) n.350A>G c.4439A>G n.3824A>G c.5940A>G (p.Glu1980=) n.485-8689T>C c.4059A>G (p.Glu1353=) c.3405A>G (p.Glu1135=) | dbSNP |
12 | g.40363516A>T | CA384413510 | LRRK2 | c.7143A>T (p.Glu2381Asp) c.940A>T c.*6052A>T (n.*6052A>T) c.2917A>T c.933A>T c.2588A>T (n.2588A>T) c.4230A>T c.2310A>T (n.2310A>T) c.2600A>T c.6888A>T (p.Glu2296Asp) n.3127A>T c.2826A>T (p.Glu942Asp) n.350A>T c.4439A>T n.3824A>T c.5940A>T (p.Glu1980Asp) n.485-8689T>A c.4059A>T (p.Glu1353Asp) c.3405A>T (p.Glu1135Asp) | |
12 | g.40363517A>C | CA384413514 | LRRK2 | c.7144A>C (p.Lys2382Gln) c.941A>C c.*6053A>C (n.*6053A>C) c.2918A>C c.934A>C c.2589A>C (n.2589A>C) c.4231A>C c.2311A>C (n.2311A>C) c.2601A>C c.6889A>C (p.Lys2297Gln) n.3128A>C c.2827A>C (p.Lys943Gln) n.351A>C c.4440A>C n.3825A>C c.5941A>C (p.Lys1981Gln) n.485-8690T>G c.4060A>C (p.Lys1354Gln) c.3406A>C (p.Lys1136Gln) | |
12 | g.40363517A>G | CA384413515 | LRRK2 | c.7144A>G (p.Lys2382Glu) c.941A>G c.*6053A>G (n.*6053A>G) c.2918A>G c.934A>G c.2589A>G (n.2589A>G) c.4231A>G c.2311A>G (n.2311A>G) c.2601A>G c.6889A>G (p.Lys2297Glu) n.3128A>G c.2827A>G (p.Lys943Glu) n.351A>G c.4440A>G n.3825A>G c.5941A>G (p.Lys1981Glu) n.485-8690T>C c.4060A>G (p.Lys1354Glu) c.3406A>G (p.Lys1136Glu) | ClinVar |
12 | g.40363517A>T | CA384413517 | LRRK2 | c.7144A>T (p.Lys2382Ter) c.941A>T c.*6053A>T (n.*6053A>T) c.2918A>T c.934A>T c.2589A>T (n.2589A>T) c.4231A>T c.2311A>T (n.2311A>T) c.2601A>T c.6889A>T (p.Lys2297Ter) n.3128A>T c.2827A>T (p.Lys943Ter) n.351A>T c.4440A>T n.3825A>T c.5941A>T (p.Lys1981Ter) n.485-8690T>A c.4060A>T (p.Lys1354Ter) c.3406A>T (p.Lys1136Ter) | |
12 | g.40363518A>C | CA384413519 | LRRK2 | c.7145A>C (p.Lys2382Thr) c.942A>C c.*6054A>C (n.*6054A>C) c.2919A>C c.935A>C c.2590A>C (n.2590A>C) c.4232A>C c.2312A>C (n.2312A>C) c.2602A>C c.6890A>C (p.Lys2297Thr) n.3129A>C c.2828A>C (p.Lys943Thr) n.352A>C c.4441A>C n.3826A>C c.5942A>C (p.Lys1981Thr) n.485-8691T>G c.4061A>C (p.Lys1354Thr) c.3407A>C (p.Lys1136Thr) | |
12 | g.40363518A>G | CA384413521 | LRRK2 | c.7145A>G (p.Lys2382Arg) c.942A>G c.*6054A>G (n.*6054A>G) c.2919A>G c.935A>G c.2590A>G (n.2590A>G) c.4232A>G c.2312A>G (n.2312A>G) c.2602A>G c.6890A>G (p.Lys2297Arg) n.3129A>G c.2828A>G (p.Lys943Arg) n.352A>G c.4441A>G n.3826A>G c.5942A>G (p.Lys1981Arg) n.485-8691T>C c.4061A>G (p.Lys1354Arg) c.3407A>G (p.Lys1136Arg) | |
12 | g.40363518A>T | CA384413522 | LRRK2 | c.7145A>T (p.Lys2382Ile) c.942A>T c.*6054A>T (n.*6054A>T) c.2919A>T c.935A>T c.2590A>T (n.2590A>T) c.4232A>T c.2312A>T (n.2312A>T) c.2602A>T c.6890A>T (p.Lys2297Ile) n.3129A>T c.2828A>T (p.Lys943Ile) n.352A>T c.4441A>T n.3826A>T c.5942A>T (p.Lys1981Ile) n.485-8691T>A c.4061A>T (p.Lys1354Ile) c.3407A>T (p.Lys1136Ile) | |
12 | g.40363519A= | CA2031026003 | LRRK2 | c.7146A= (p.Lys2382=) c.943A= c.*6055A= (n.*6055A=) c.2920A= c.936A= c.2591A= (n.2591A=) c.4233A= c.2313A= (n.2313A=) c.2603A= c.6891A= (p.Lys2297=) n.3130A= c.2829A= (p.Lys943=) n.353A= c.4442A= n.3827A= c.5943A= (p.Lys1981=) n.485-8692T= c.4062A= (p.Lys1354=) c.3408A= (p.Lys1136=) | |
12 | g.40363519A>C | CA235359664 | LRRK2 | c.7146A>C (p.Lys2382Asn) c.943A>C c.*6055A>C (n.*6055A>C) c.2920A>C c.936A>C c.2591A>C (n.2591A>C) c.4233A>C c.2313A>C (n.2313A>C) c.2603A>C c.6891A>C (p.Lys2297Asn) n.3130A>C c.2829A>C (p.Lys943Asn) n.353A>C c.4442A>C n.3827A>C c.5943A>C (p.Lys1981Asn) n.485-8692T>G c.4062A>C (p.Lys1354Asn) c.3408A>C (p.Lys1136Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.40363519A>G | CA479247549 | LRRK2 | c.7146A>G (p.Lys2382=) c.943A>G c.*6055A>G (n.*6055A>G) c.2920A>G c.936A>G c.2591A>G (n.2591A>G) c.4233A>G c.2313A>G (n.2313A>G) c.2603A>G c.6891A>G (p.Lys2297=) n.3130A>G c.2829A>G (p.Lys943=) n.353A>G c.4442A>G n.3827A>G c.5943A>G (p.Lys1981=) n.485-8692T>C c.4062A>G (p.Lys1354=) c.3408A>G (p.Lys1136=) | gnomAD v4 COSMIC COSMIC |
12 | g.40363519A>T | CA384413524 | LRRK2 | c.7146A>T (p.Lys2382Asn) c.943A>T c.*6055A>T (n.*6055A>T) c.2920A>T c.936A>T c.2591A>T (n.2591A>T) c.4233A>T c.2313A>T (n.2313A>T) c.2603A>T c.6891A>T (p.Lys2297Asn) n.3130A>T c.2829A>T (p.Lys943Asn) n.353A>T c.4442A>T n.3827A>T c.5943A>T (p.Lys1981Asn) n.485-8692T>A c.4062A>T (p.Lys1354Asn) c.3408A>T (p.Lys1136Asn) | |
12 | g.40363519_40363521delinsACT | CA2031026004 | LRRK2 | c.7146_7148delinsACT (p.Lys2382=) c.943_945delinsACT c.*6055_*6057delinsACT (n.*6055_*6057delinsACT) c.2920_2922delinsACT c.936_938delinsACT c.2591_2593delinsACT (n.2591_2593delinsACT) c.4233_4235delinsACT c.2313_2315delinsACT (n.2313_2315delinsACT) c.2603_2605delinsACT c.6891_6893delinsACT (p.Lys2297=) n.3130_3132delinsACT c.2829_2831delinsACT (p.Lys943=) n.353_355delinsACT c.4442_4444delinsACT n.3827_3829delinsACT c.5943_5945delinsACT (p.Lys1981=) n.485-8694_485-8692delinsAGT c.4062_4064delinsACT (p.Lys1354=) c.3408_3410delinsACT (p.Lys1136=) | |
12 | g.40363520C>A | CA6514852 | LRRK2 | c.7147C>A (p.Leu2383Ile) c.944C>A c.*6056C>A (n.*6056C>A) c.2921C>A c.937C>A c.2592C>A (n.2592C>A) c.4234C>A c.2314C>A (n.2314C>A) c.2604C>A c.6892C>A (p.Leu2298Ile) n.3131C>A c.2830C>A (p.Leu944Ile) n.354C>A c.4443C>A n.3828C>A c.5944C>A (p.Leu1982Ile) n.485-8693G>T c.4063C>A (p.Leu1355Ile) c.3409C>A (p.Leu1137Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.40363520C= | CA2031026008 | LRRK2 | c.7147C= (p.Leu2383=) c.944C= c.*6056C= (n.*6056C=) c.2921C= c.937C= c.2592C= (n.2592C=) c.4234C= c.2314C= (n.2314C=) c.2604C= c.6892C= (p.Leu2298=) n.3131C= c.2830C= (p.Leu944=) n.354C= c.4443C= n.3828C= c.5944C= (p.Leu1982=) n.485-8693G= c.4063C= (p.Leu1355=) c.3409C= (p.Leu1137=) | |
12 | g.40363520C>G | CA384413527 | LRRK2 | c.7147C>G (p.Leu2383Val) c.944C>G c.*6056C>G (n.*6056C>G) c.2921C>G c.937C>G c.2592C>G (n.2592C>G) c.4234C>G c.2314C>G (n.2314C>G) c.2604C>G c.6892C>G (p.Leu2298Val) n.3131C>G c.2830C>G (p.Leu944Val) n.354C>G c.4443C>G n.3828C>G c.5944C>G (p.Leu1982Val) n.485-8693G>C c.4063C>G (p.Leu1355Val) c.3409C>G (p.Leu1137Val) | |
12 | g.40363520C>T | CA384413530 | LRRK2 | c.7147C>T (p.Leu2383Phe) c.944C>T c.*6056C>T (n.*6056C>T) c.2921C>T c.937C>T c.2592C>T (n.2592C>T) c.4234C>T c.2314C>T (n.2314C>T) c.2604C>T c.6892C>T (p.Leu2298Phe) n.3131C>T c.2830C>T (p.Leu944Phe) n.354C>T c.4443C>T n.3828C>T c.5944C>T (p.Leu1982Phe) n.485-8693G>A c.4063C>T (p.Leu1355Phe) c.3409C>T (p.Leu1137Phe) | ClinVar |
12 | g.40363522_40363523del | CA2031026007 | LRRK2 | c.7149_7150del (p.Cys2384TrpfsTer?) c.946_947del c.*6058_*6059del (n.*6058_*6059del) c.2923_2924del c.939_940del c.2594_2595del (n.2594_2595del) c.4236_4237del c.2316_2317del (n.2316_2317del) c.2606_2607del c.6894_6895del (p.Cys2299TrpfsTer?) n.3133_3134del c.2832_2833del (p.Cys945TrpfsTer?) n.356_357del c.4445_4446del n.3830_3831del c.5946_5947del (p.Cys1983TrpfsTer?) n.485-8694_485-8693del c.4065_4066del (p.Cys1356TrpfsTer?) c.3411_3412del (p.Cys1138TrpfsTer?) | dbSNP |
12 | g.40363521T>A | CA384413531 | LRRK2 | c.7148T>A (p.Leu2383His) c.945T>A c.*6057T>A (n.*6057T>A) c.2922T>A c.938T>A c.2593T>A (n.2593T>A) c.4235T>A c.2315T>A (n.2315T>A) c.2605T>A c.6893T>A (p.Leu2298His) n.3132T>A c.2831T>A (p.Leu944His) n.355T>A c.4444T>A n.3829T>A c.5945T>A (p.Leu1982His) n.485-8694A>T c.4064T>A (p.Leu1355His) c.3410T>A (p.Leu1137His) | |
12 | g.40363521T>C | CA384413532 | LRRK2 | c.7148T>C (p.Leu2383Pro) c.945T>C c.*6057T>C (n.*6057T>C) c.2922T>C c.938T>C c.2593T>C (n.2593T>C) c.4235T>C c.2315T>C (n.2315T>C) c.2605T>C c.6893T>C (p.Leu2298Pro) n.3132T>C c.2831T>C (p.Leu944Pro) n.355T>C c.4444T>C n.3829T>C c.5945T>C (p.Leu1982Pro) n.485-8694A>G c.4064T>C (p.Leu1355Pro) c.3410T>C (p.Leu1137Pro) | |
12 | g.40363521T>G | CA384413534 | LRRK2 | c.7148T>G (p.Leu2383Arg) c.945T>G c.*6057T>G (n.*6057T>G) c.2922T>G c.938T>G c.2593T>G (n.2593T>G) c.4235T>G c.2315T>G (n.2315T>G) c.2605T>G c.6893T>G (p.Leu2298Arg) n.3132T>G c.2831T>G (p.Leu944Arg) n.355T>G c.4444T>G n.3829T>G c.5945T>G (p.Leu1982Arg) n.485-8694A>C c.4064T>G (p.Leu1355Arg) c.3410T>G (p.Leu1137Arg) | |
12 | g.40363522C>A | CA479247558 | LRRK2 | c.7149C>A (p.Leu2383=) c.946C>A c.*6058C>A (n.*6058C>A) c.2923C>A c.939C>A c.2594C>A (n.2594C>A) c.4236C>A c.2316C>A (n.2316C>A) c.2606C>A c.6894C>A (p.Leu2298=) n.3133C>A c.2832C>A (p.Leu944=) n.356C>A c.4445C>A n.3830C>A c.5946C>A (p.Leu1982=) n.485-8695G>T c.4065C>A (p.Leu1355=) c.3411C>A (p.Leu1137=) | |
12 | g.40363522C>G | CA479247561 | LRRK2 | c.7149C>G (p.Leu2383=) c.946C>G c.*6058C>G (n.*6058C>G) c.2923C>G c.939C>G c.2594C>G (n.2594C>G) c.4236C>G c.2316C>G (n.2316C>G) c.2606C>G c.6894C>G (p.Leu2298=) n.3133C>G c.2832C>G (p.Leu944=) n.356C>G c.4445C>G n.3830C>G c.5946C>G (p.Leu1982=) n.485-8695G>C c.4065C>G (p.Leu1355=) c.3411C>G (p.Leu1137=) | |
12 | g.40363522C>T | CA479247560 | LRRK2 | c.7149C>T (p.Leu2383=) c.946C>T c.*6058C>T (n.*6058C>T) c.2923C>T c.939C>T c.2594C>T (n.2594C>T) c.4236C>T c.2316C>T (n.2316C>T) c.2606C>T c.6894C>T (p.Leu2298=) n.3133C>T c.2832C>T (p.Leu944=) n.356C>T c.4445C>T n.3830C>T c.5946C>T (p.Leu1982=) n.485-8695G>A c.4065C>T (p.Leu1355=) c.3411C>T (p.Leu1137=) | ClinVar |
12 | g.40363523T>A | CA384413539 | LRRK2 | c.7150T>A (p.Cys2384Ser) c.947T>A c.*6059T>A (n.*6059T>A) c.2924T>A c.940T>A c.2595T>A (n.2595T>A) c.4237T>A c.2317T>A (n.2317T>A) c.2607T>A c.6895T>A (p.Cys2299Ser) n.3134T>A c.2833T>A (p.Cys945Ser) n.357T>A c.4446T>A n.3831T>A c.5947T>A (p.Cys1983Ser) n.485-8696A>T c.4066T>A (p.Cys1356Ser) c.3412T>A (p.Cys1138Ser) | |
12 | g.40363523T>C | CA384413536 | LRRK2 | c.7150T>C (p.Cys2384Arg) c.947T>C c.*6059T>C (n.*6059T>C) c.2924T>C c.940T>C c.2595T>C (n.2595T>C) c.4237T>C c.2317T>C (n.2317T>C) c.2607T>C c.6895T>C (p.Cys2299Arg) n.3134T>C c.2833T>C (p.Cys945Arg) n.357T>C c.4446T>C n.3831T>C c.5947T>C (p.Cys1983Arg) n.485-8696A>G c.4066T>C (p.Cys1356Arg) c.3412T>C (p.Cys1138Arg) | gnomAD v4 |
12 | g.40363523T>G | CA384413537 | LRRK2 | c.7150T>G (p.Cys2384Gly) c.947T>G c.*6059T>G (n.*6059T>G) c.2924T>G c.940T>G c.2595T>G (n.2595T>G) c.4237T>G c.2317T>G (n.2317T>G) c.2607T>G c.6895T>G (p.Cys2299Gly) n.3134T>G c.2833T>G (p.Cys945Gly) n.357T>G c.4446T>G n.3831T>G c.5947T>G (p.Cys1983Gly) n.485-8696A>C c.4066T>G (p.Cys1356Gly) c.3412T>G (p.Cys1138Gly) | |
12 | g.40363524G>A | CA384413540 | LRRK2 | c.7151G>A (p.Cys2384Tyr) c.948G>A c.*6060G>A (n.*6060G>A) c.2925G>A c.941G>A c.2596G>A (n.2596G>A) c.4238G>A c.2318G>A (n.2318G>A) c.2608G>A c.6896G>A (p.Cys2299Tyr) n.3135G>A c.2834G>A (p.Cys945Tyr) n.358G>A c.4447G>A n.3832G>A c.5948G>A (p.Cys1983Tyr) n.485-8697C>T c.4067G>A (p.Cys1356Tyr) c.3413G>A (p.Cys1138Tyr) | |
12 | g.40363524G>C | CA384413542 | LRRK2 | c.7151G>C (p.Cys2384Ser) c.948G>C c.*6060G>C (n.*6060G>C) c.2925G>C c.941G>C c.2596G>C (n.2596G>C) c.4238G>C c.2318G>C (n.2318G>C) c.2608G>C c.6896G>C (p.Cys2299Ser) n.3135G>C c.2834G>C (p.Cys945Ser) n.358G>C c.4447G>C n.3832G>C c.5948G>C (p.Cys1983Ser) n.485-8697C>G c.4067G>C (p.Cys1356Ser) c.3413G>C (p.Cys1138Ser) | gnomAD v4 |
12 | g.40363524G>T | CA384413543 | LRRK2 | c.7151G>T (p.Cys2384Phe) c.948G>T c.*6060G>T (n.*6060G>T) c.2925G>T c.941G>T c.2596G>T (n.2596G>T) c.4238G>T c.2318G>T (n.2318G>T) c.2608G>T c.6896G>T (p.Cys2299Phe) n.3135G>T c.2834G>T (p.Cys945Phe) n.358G>T c.4447G>T n.3832G>T c.5948G>T (p.Cys1983Phe) n.485-8697C>A c.4067G>T (p.Cys1356Phe) c.3413G>T (p.Cys1138Phe) | |
12 | g.40363525T>A | CA384413545 | LRRK2 | c.7152T>A (p.Cys2384Ter) c.949T>A c.*6061T>A (n.*6061T>A) c.2926T>A c.942T>A c.2597T>A (n.2597T>A) c.4239T>A c.2319T>A (n.2319T>A) c.2609T>A c.6897T>A (p.Cys2299Ter) n.3136T>A c.2835T>A (p.Cys945Ter) n.359T>A c.4448T>A n.3833T>A c.5949T>A (p.Cys1983Ter) n.485-8698A>T c.4068T>A (p.Cys1356Ter) c.3414T>A (p.Cys1138Ter) | |
12 | g.40363525T>C | CA479247565 | LRRK2 | c.7152T>C (p.Cys2384=) c.949T>C c.*6061T>C (n.*6061T>C) c.2926T>C c.942T>C c.2597T>C (n.2597T>C) c.4239T>C c.2319T>C (n.2319T>C) c.2609T>C c.6897T>C (p.Cys2299=) n.3136T>C c.2835T>C (p.Cys945=) n.359T>C c.4448T>C n.3833T>C c.5949T>C (p.Cys1983=) n.485-8698A>G c.4068T>C (p.Cys1356=) c.3414T>C (p.Cys1138=) | |
12 | g.40363525T>G | CA384413547 | LRRK2 | c.7152T>G (p.Cys2384Trp) c.949T>G c.*6061T>G (n.*6061T>G) c.2926T>G c.942T>G c.2597T>G (n.2597T>G) c.4239T>G c.2319T>G (n.2319T>G) c.2609T>G c.6897T>G (p.Cys2299Trp) n.3136T>G c.2835T>G (p.Cys945Trp) n.359T>G c.4448T>G n.3833T>G c.5949T>G (p.Cys1983Trp) n.485-8698A>C c.4068T>G (p.Cys1356Trp) c.3414T>G (p.Cys1138Trp) | |
12 | g.40363526G>A | CA343677 | LRRK2 | c.7153G>A (p.Gly2385Arg) c.950G>A c.*6062G>A (n.*6062G>A) c.2927G>A c.943G>A c.2598G>A (n.2598G>A) c.4240G>A c.2320G>A (n.2320G>A) c.2610G>A c.6898G>A (p.Gly2300Arg) n.3137G>A c.2836G>A (p.Gly946Arg) n.360G>A c.4449G>A n.3834G>A c.5950G>A (p.Gly1984Arg) n.485-8699C>T c.4069G>A (p.Gly1357Arg) c.3415G>A (p.Gly1139Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.40363526G>C | CA384413550 | LRRK2 | c.7153G>C (p.Gly2385Arg) c.950G>C c.*6062G>C (n.*6062G>C) c.2927G>C c.943G>C c.2598G>C (n.2598G>C) c.4240G>C c.2320G>C (n.2320G>C) c.2610G>C c.6898G>C (p.Gly2300Arg) n.3137G>C c.2836G>C (p.Gly946Arg) n.360G>C c.4449G>C n.3834G>C c.5950G>C (p.Gly1984Arg) n.485-8699C>G c.4069G>C (p.Gly1357Arg) c.3415G>C (p.Gly1139Arg) | |
12 | g.40363526G= | CA2031026015 | LRRK2 | c.7153G= (p.Gly2385=) c.950G= c.*6062G= (n.*6062G=) c.2927G= c.943G= c.2598G= (n.2598G=) c.4240G= c.2320G= (n.2320G=) c.2610G= c.6898G= (p.Gly2300=) n.3137G= c.2836G= (p.Gly946=) n.360G= c.4449G= n.3834G= c.5950G= (p.Gly1984=) n.485-8699C= c.4069G= (p.Gly1357=) c.3415G= (p.Gly1139=) | |
12 | g.40363526G>T | CA384413548 | LRRK2 | c.7153G>T (p.Gly2385Ter) c.950G>T c.*6062G>T (n.*6062G>T) c.2927G>T c.943G>T c.2598G>T (n.2598G>T) c.4240G>T c.2320G>T (n.2320G>T) c.2610G>T c.6898G>T (p.Gly2300Ter) n.3137G>T c.2836G>T (p.Gly946Ter) n.360G>T c.4449G>T n.3834G>T c.5950G>T (p.Gly1984Ter) n.485-8699C>A c.4069G>T (p.Gly1357Ter) c.3415G>T (p.Gly1139Ter) | |
12 | g.40363527G>A | CA384413552 | LRRK2 | c.7154G>A (p.Gly2385Glu) c.951G>A c.*6063G>A (n.*6063G>A) c.2928G>A c.944G>A c.2599G>A (n.2599G>A) c.4241G>A c.2321G>A (n.2321G>A) c.2611G>A c.6899G>A (p.Gly2300Glu) n.3138G>A c.2837G>A (p.Gly946Glu) n.361G>A c.4450G>A n.3835G>A c.5951G>A (p.Gly1984Glu) n.485-8700C>T c.4070G>A (p.Gly1357Glu) c.3416G>A (p.Gly1139Glu) | dbSNP gnomAD v4 |
12 | g.40363527G>C | CA384413554 | LRRK2 | c.7154G>C (p.Gly2385Ala) c.951G>C c.*6063G>C (n.*6063G>C) c.2928G>C c.944G>C c.2599G>C (n.2599G>C) c.4241G>C c.2321G>C (n.2321G>C) c.2611G>C c.6899G>C (p.Gly2300Ala) n.3138G>C c.2837G>C (p.Gly946Ala) n.361G>C c.4450G>C n.3835G>C c.5951G>C (p.Gly1984Ala) n.485-8700C>G c.4070G>C (p.Gly1357Ala) c.3416G>C (p.Gly1139Ala) | |
12 | g.40363527G= | CA2031026023 | LRRK2 | c.7154G= (p.Gly2385=) c.951G= c.*6063G= (n.*6063G=) c.2928G= c.944G= c.2599G= (n.2599G=) c.4241G= c.2321G= (n.2321G=) c.2611G= c.6899G= (p.Gly2300=) n.3138G= c.2837G= (p.Gly946=) n.361G= c.4450G= n.3835G= c.5951G= (p.Gly1984=) n.485-8700C= c.4070G= (p.Gly1357=) c.3416G= (p.Gly1139=) | |
12 | g.40363527G>T | CA6514853 | LRRK2 | c.7154G>T (p.Gly2385Val) c.951G>T c.*6063G>T (n.*6063G>T) c.2928G>T c.944G>T c.2599G>T (n.2599G>T) c.4241G>T c.2321G>T (n.2321G>T) c.2611G>T c.6899G>T (p.Gly2300Val) n.3138G>T c.2837G>T (p.Gly946Val) n.361G>T c.4450G>T n.3835G>T c.5951G>T (p.Gly1984Val) n.485-8700C>A c.4070G>T (p.Gly1357Val) c.3416G>T (p.Gly1139Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.40363528A= | CA2031026030 | LRRK2 | c.7155A= (p.Gly2385=) c.952A= c.*6064A= (n.*6064A=) c.2929A= c.945A= c.2600A= (n.2600A=) c.4242A= c.2322A= (n.2322A=) c.2612A= c.6900A= (p.Gly2300=) n.3139A= c.2838A= (p.Gly946=) n.362A= c.4451A= n.3836A= c.5952A= (p.Gly1984=) n.485-8701T= c.4071A= (p.Gly1357=) c.3417A= (p.Gly1139=) | |
12 | g.40363528A>C | CA479247578 | LRRK2 | c.7155A>C (p.Gly2385=) c.952A>C c.*6064A>C (n.*6064A>C) c.2929A>C c.945A>C c.2600A>C (n.2600A>C) c.4242A>C c.2322A>C (n.2322A>C) c.2612A>C c.6900A>C (p.Gly2300=) n.3139A>C c.2838A>C (p.Gly946=) n.362A>C c.4451A>C n.3836A>C c.5952A>C (p.Gly1984=) n.485-8701T>G c.4071A>C (p.Gly1357=) c.3417A>C (p.Gly1139=) | gnomAD v3 gnomAD v4 |
12 | g.40363528A>G | CA343679 | LRRK2 | c.7155A>G (p.Gly2385=) c.952A>G c.*6064A>G (n.*6064A>G) c.2929A>G c.945A>G c.2600A>G (n.2600A>G) c.4242A>G c.2322A>G (n.2322A>G) c.2612A>G c.6900A>G (p.Gly2300=) n.3139A>G c.2838A>G (p.Gly946=) n.362A>G c.4451A>G n.3836A>G c.5952A>G (p.Gly1984=) n.485-8701T>C c.4071A>G (p.Gly1357=) c.3417A>G (p.Gly1139=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.40363528A>T | CA479247581 | LRRK2 | c.7155A>T (p.Gly2385=) c.952A>T c.*6064A>T (n.*6064A>T) c.2929A>T c.945A>T c.2600A>T (n.2600A>T) c.4242A>T c.2322A>T (n.2322A>T) c.2612A>T c.6900A>T (p.Gly2300=) n.3139A>T c.2838A>T (p.Gly946=) n.362A>T c.4451A>T n.3836A>T c.5952A>T (p.Gly1984=) n.485-8701T>A c.4071A>T (p.Gly1357=) c.3417A>T (p.Gly1139=) | |
12 | g.40363529C>A | CA384413556 | LRRK2 | c.7156C>A (p.Leu2386Ile) c.953C>A c.*6065C>A (n.*6065C>A) c.2930C>A c.946C>A c.2601C>A (n.2601C>A) c.4243C>A c.2323C>A (n.2323C>A) c.2613C>A c.6901C>A (p.Leu2301Ile) n.3140C>A c.2839C>A (p.Leu947Ile) n.363C>A c.4452C>A n.3837C>A c.5953C>A (p.Leu1985Ile) n.485-8702G>T c.4072C>A (p.Leu1358Ile) c.3418C>A (p.Leu1140Ile) | |
12 | g.40363529C= | CA2031026036 | LRRK2 | c.7156C= (p.Leu2386=) c.953C= c.*6065C= (n.*6065C=) c.2930C= c.946C= c.2601C= (n.2601C=) c.4243C= c.2323C= (n.2323C=) c.2613C= c.6901C= (p.Leu2301=) n.3140C= c.2839C= (p.Leu947=) n.363C= c.4452C= n.3837C= c.5953C= (p.Leu1985=) n.485-8702G= c.4072C= (p.Leu1358=) c.3418C= (p.Leu1140=) | |
12 | g.40363529C>G | CA384413557 | LRRK2 | c.7156C>G (p.Leu2386Val) c.953C>G c.*6065C>G (n.*6065C>G) c.2930C>G c.946C>G c.2601C>G (n.2601C>G) c.4243C>G c.2323C>G (n.2323C>G) c.2613C>G c.6901C>G (p.Leu2301Val) n.3140C>G c.2839C>G (p.Leu947Val) n.363C>G c.4452C>G n.3837C>G c.5953C>G (p.Leu1985Val) n.485-8702G>C c.4072C>G (p.Leu1358Val) c.3418C>G (p.Leu1140Val) | gnomAD v4 |
12 | g.40363529C>T | CA479247585 | LRRK2 | c.7156C>T (p.Leu2386=) c.953C>T c.*6065C>T (n.*6065C>T) c.2930C>T c.946C>T c.2601C>T (n.2601C>T) c.4243C>T c.2323C>T (n.2323C>T) c.2613C>T c.6901C>T (p.Leu2301=) n.3140C>T c.2839C>T (p.Leu947=) n.363C>T c.4452C>T n.3837C>T c.5953C>T (p.Leu1985=) n.485-8702G>A c.4072C>T (p.Leu1358=) c.3418C>T (p.Leu1140=) | ClinVar dbSNP gnomAD v4 |
12 | g.40363530T>A | CA384413559 | LRRK2 | c.7157T>A (p.Leu2386Gln) c.954T>A c.*6066T>A (n.*6066T>A) c.2931T>A c.947T>A c.2602T>A (n.2602T>A) c.4244T>A c.2324T>A (n.2324T>A) c.2614T>A c.6902T>A (p.Leu2301Gln) n.3141T>A c.2840T>A (p.Leu947Gln) n.364T>A c.4453T>A n.3838T>A c.5954T>A (p.Leu1985Gln) n.485-8703A>T c.4073T>A (p.Leu1358Gln) c.3419T>A (p.Leu1140Gln) | |
12 | g.40363530T>C | CA384413562 | LRRK2 | c.7157T>C (p.Leu2386Pro) c.954T>C c.*6066T>C (n.*6066T>C) c.2931T>C c.947T>C c.2602T>C (n.2602T>C) c.4244T>C c.2324T>C (n.2324T>C) c.2614T>C c.6902T>C (p.Leu2301Pro) n.3141T>C c.2840T>C (p.Leu947Pro) n.364T>C c.4453T>C n.3838T>C c.5954T>C (p.Leu1985Pro) n.485-8703A>G c.4073T>C (p.Leu1358Pro) c.3419T>C (p.Leu1140Pro) | |
12 | g.40363530T>G | CA384413561 | LRRK2 | c.7157T>G (p.Leu2386Arg) c.954T>G c.*6066T>G (n.*6066T>G) c.2931T>G c.947T>G c.2602T>G (n.2602T>G) c.4244T>G c.2324T>G (n.2324T>G) c.2614T>G c.6902T>G (p.Leu2301Arg) n.3141T>G c.2840T>G (p.Leu947Arg) n.364T>G c.4453T>G n.3838T>G c.5954T>G (p.Leu1985Arg) n.485-8703A>C c.4073T>G (p.Leu1358Arg) c.3419T>G (p.Leu1140Arg) | dbSNP |
12 | g.40363530T= | CA2031026051 | LRRK2 | c.7157T= (p.Leu2386=) c.954T= c.*6066T= (n.*6066T=) c.2931T= c.947T= c.2602T= (n.2602T=) c.4244T= c.2324T= (n.2324T=) c.2614T= c.6902T= (p.Leu2301=) n.3141T= c.2840T= (p.Leu947=) n.364T= c.4453T= n.3838T= c.5954T= (p.Leu1985=) n.485-8703A= c.4073T= (p.Leu1358=) c.3419T= (p.Leu1140=) | |
12 | g.40363531A= | CA2031026055 | LRRK2 | c.7158A= (p.Leu2386=) c.955A= c.*6067A= (n.*6067A=) c.2932A= c.948A= c.2603A= (n.2603A=) c.4245A= c.2325A= (n.2325A=) c.2615A= c.6903A= (p.Leu2301=) n.3142A= c.2841A= (p.Leu947=) n.365A= c.4454A= n.3839A= c.5955A= (p.Leu1985=) n.485-8704T= c.4074A= (p.Leu1358=) c.3420A= (p.Leu1140=) | |
12 | g.40363531A>C | CA479247592 | LRRK2 | c.7158A>C (p.Leu2386=) c.955A>C c.*6067A>C (n.*6067A>C) c.2932A>C c.948A>C c.2603A>C (n.2603A>C) c.4245A>C c.2325A>C (n.2325A>C) c.2615A>C c.6903A>C (p.Leu2301=) n.3142A>C c.2841A>C (p.Leu947=) n.365A>C c.4454A>C n.3839A>C c.5955A>C (p.Leu1985=) n.485-8704T>G c.4074A>C (p.Leu1358=) c.3420A>C (p.Leu1140=) | |
12 | g.40363531A>G | CA235359683 | LRRK2 | c.7158A>G (p.Leu2386=) c.955A>G c.*6067A>G (n.*6067A>G) c.2932A>G c.948A>G c.2603A>G (n.2603A>G) c.4245A>G c.2325A>G (n.2325A>G) c.2615A>G c.6903A>G (p.Leu2301=) n.3142A>G c.2841A>G (p.Leu947=) n.365A>G c.4454A>G n.3839A>G c.5955A>G (p.Leu1985=) n.485-8704T>C c.4074A>G (p.Leu1358=) c.3420A>G (p.Leu1140=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.40363531A>T | CA479247594 | LRRK2 | c.7158A>T (p.Leu2386=) c.955A>T c.*6067A>T (n.*6067A>T) c.2932A>T c.948A>T c.2603A>T (n.2603A>T) c.4245A>T c.2325A>T (n.2325A>T) c.2615A>T c.6903A>T (p.Leu2301=) n.3142A>T c.2841A>T (p.Leu947=) n.365A>T c.4454A>T n.3839A>T c.5955A>T (p.Leu1985=) n.485-8704T>A c.4074A>T (p.Leu1358=) c.3420A>T (p.Leu1140=) | |
12 | g.40363532A>C | CA384413564 | LRRK2 | c.7159A>C (p.Ile2387Leu) c.956A>C c.*6068A>C (n.*6068A>C) c.2933A>C c.949A>C c.2604A>C (n.2604A>C) c.4246A>C c.2326A>C (n.2326A>C) c.2616A>C c.6904A>C (p.Ile2302Leu) n.3143A>C c.2842A>C (p.Ile948Leu) n.366A>C c.4455A>C n.3840A>C c.5956A>C (p.Ile1986Leu) n.485-8705T>G c.4075A>C (p.Ile1359Leu) c.3421A>C (p.Ile1141Leu) | |
12 | g.40363532A>G | CA384413565 | LRRK2 | c.7159A>G (p.Ile2387Val) c.956A>G c.*6068A>G (n.*6068A>G) c.2933A>G c.949A>G c.2604A>G (n.2604A>G) c.4246A>G c.2326A>G (n.2326A>G) c.2616A>G c.6904A>G (p.Ile2302Val) n.3143A>G c.2842A>G (p.Ile948Val) n.366A>G c.4455A>G n.3840A>G c.5956A>G (p.Ile1986Val) n.485-8705T>C c.4075A>G (p.Ile1359Val) c.3421A>G (p.Ile1141Val) | |
12 | g.40363532A>T | CA384413567 | LRRK2 | c.7159A>T (p.Ile2387Leu) c.956A>T c.*6068A>T (n.*6068A>T) c.2933A>T c.949A>T c.2604A>T (n.2604A>T) c.4246A>T c.2326A>T (n.2326A>T) c.2616A>T c.6904A>T (p.Ile2302Leu) n.3143A>T c.2842A>T (p.Ile948Leu) n.366A>T c.4455A>T n.3840A>T c.5956A>T (p.Ile1986Leu) n.485-8705T>A c.4075A>T (p.Ile1359Leu) c.3421A>T (p.Ile1141Leu) | |
12 | g.40363533T>A | CA384413569 | LRRK2 | c.7160T>A (p.Ile2387Lys) c.957T>A c.*6069T>A (n.*6069T>A) c.2934T>A c.950T>A c.2605T>A (n.2605T>A) c.4247T>A c.2327T>A (n.2327T>A) c.2617T>A c.6905T>A (p.Ile2302Lys) n.3144T>A c.2843T>A (p.Ile948Lys) n.367T>A c.4456T>A n.3841T>A c.5957T>A (p.Ile1986Lys) n.485-8706A>T c.4076T>A (p.Ile1359Lys) c.3422T>A (p.Ile1141Lys) | |
12 | g.40363533T>C | CA6514854 | LRRK2 | c.7160T>C (p.Ile2387Thr) c.957T>C c.*6069T>C (n.*6069T>C) c.2934T>C c.950T>C c.2605T>C (n.2605T>C) c.4247T>C c.2327T>C (n.2327T>C) c.2617T>C c.6905T>C (p.Ile2302Thr) n.3144T>C c.2843T>C (p.Ile948Thr) n.367T>C c.4456T>C n.3841T>C c.5957T>C (p.Ile1986Thr) n.485-8706A>G c.4076T>C (p.Ile1359Thr) c.3422T>C (p.Ile1141Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.40363533T>G | CA384413570 | LRRK2 | c.7160T>G (p.Ile2387Arg) c.957T>G c.*6069T>G (n.*6069T>G) c.2934T>G c.950T>G c.2605T>G (n.2605T>G) c.4247T>G c.2327T>G (n.2327T>G) c.2617T>G c.6905T>G (p.Ile2302Arg) n.3144T>G c.2843T>G (p.Ile948Arg) n.367T>G c.4456T>G n.3841T>G c.5957T>G (p.Ile1986Arg) n.485-8706A>C c.4076T>G (p.Ile1359Arg) c.3422T>G (p.Ile1141Arg) | |
12 | g.40363533T= | CA2031026062 | LRRK2 | c.7160T= (p.Ile2387=) c.957T= c.*6069T= (n.*6069T=) c.2934T= c.950T= c.2605T= (n.2605T=) c.4247T= c.2327T= (n.2327T=) c.2617T= c.6905T= (p.Ile2302=) n.3144T= c.2843T= (p.Ile948=) n.367T= c.4456T= n.3841T= c.5957T= (p.Ile1986=) n.485-8706A= c.4076T= (p.Ile1359=) c.3422T= (p.Ile1141=) | |
12 | g.40363534A>C | CA479247606 | LRRK2 | c.7161A>C (p.Ile2387=) c.958A>C c.*6070A>C (n.*6070A>C) c.2935A>C c.951A>C c.2606A>C (n.2606A>C) c.4248A>C c.2328A>C (n.2328A>C) c.2618A>C c.6906A>C (p.Ile2302=) n.3145A>C c.2844A>C (p.Ile948=) n.368A>C c.4457A>C n.3842A>C c.5958A>C (p.Ile1986=) n.485-8707T>G c.4077A>C (p.Ile1359=) c.3423A>C (p.Ile1141=) | |
12 | g.40363534A>G | CA384413571 | LRRK2 | c.7161A>G (p.Ile2387Met) c.958A>G c.*6070A>G (n.*6070A>G) c.2935A>G c.951A>G c.2606A>G (n.2606A>G) c.4248A>G c.2328A>G (n.2328A>G) c.2618A>G c.6906A>G (p.Ile2302Met) n.3145A>G c.2844A>G (p.Ile948Met) n.368A>G c.4457A>G n.3842A>G c.5958A>G (p.Ile1986Met) n.485-8707T>C c.4077A>G (p.Ile1359Met) c.3423A>G (p.Ile1141Met) | |
12 | g.40363534A>T | CA479247607 | LRRK2 | c.7161A>T (p.Ile2387=) c.958A>T c.*6070A>T (n.*6070A>T) c.2935A>T c.951A>T c.2606A>T (n.2606A>T) c.4248A>T c.2328A>T (n.2328A>T) c.2618A>T c.6906A>T (p.Ile2302=) n.3145A>T c.2844A>T (p.Ile948=) n.368A>T c.4457A>T n.3842A>T c.5958A>T (p.Ile1986=) n.485-8707T>A c.4077A>T (p.Ile1359=) c.3423A>T (p.Ile1141=) | |
12 | g.40363535G>A | CA384413573 | LRRK2 | c.7162G>A (p.Asp2388Asn) c.959G>A c.*6071G>A (n.*6071G>A) c.2936G>A c.952G>A c.2607G>A (n.2607G>A) c.4249G>A c.2329G>A (n.2329G>A) c.2619G>A c.6907G>A (p.Asp2303Asn) n.3146G>A c.2845G>A (p.Asp949Asn) n.369G>A c.4458G>A n.3843G>A c.5959G>A (p.Asp1987Asn) n.485-8708C>T c.4078G>A (p.Asp1360Asn) c.3424G>A (p.Asp1142Asn) | |
12 | g.40363535G>C | CA384413575 | LRRK2 | c.7162G>C (p.Asp2388His) c.959G>C c.*6071G>C (n.*6071G>C) c.2936G>C c.952G>C c.2607G>C (n.2607G>C) c.4249G>C c.2329G>C (n.2329G>C) c.2619G>C c.6907G>C (p.Asp2303His) n.3146G>C c.2845G>C (p.Asp949His) n.369G>C c.4458G>C n.3843G>C c.5959G>C (p.Asp1987His) n.485-8708C>G c.4078G>C (p.Asp1360His) c.3424G>C (p.Asp1142His) | |
12 | g.40363535G>T | CA384413577 | LRRK2 | c.7162G>T (p.Asp2388Tyr) c.959G>T c.*6071G>T (n.*6071G>T) c.2936G>T c.952G>T c.2607G>T (n.2607G>T) c.4249G>T c.2329G>T (n.2329G>T) c.2619G>T c.6907G>T (p.Asp2303Tyr) n.3146G>T c.2845G>T (p.Asp949Tyr) n.369G>T c.4458G>T n.3843G>T c.5959G>T (p.Asp1987Tyr) n.485-8708C>A c.4078G>T (p.Asp1360Tyr) c.3424G>T (p.Asp1142Tyr) | |
12 | g.40363536A>C | CA384413579 | LRRK2 | c.7163A>C (p.Asp2388Ala) c.960A>C c.*6072A>C (n.*6072A>C) c.2937A>C c.953A>C c.2608A>C (n.2608A>C) c.4250A>C c.2330A>C (n.2330A>C) c.2620A>C c.6908A>C (p.Asp2303Ala) n.3147A>C c.2846A>C (p.Asp949Ala) n.370A>C c.4459A>C n.3844A>C c.5960A>C (p.Asp1987Ala) n.485-8709T>G c.4079A>C (p.Asp1360Ala) c.3425A>C (p.Asp1142Ala) | |
12 | g.40363536A>G | CA384413582 | LRRK2 | c.7163A>G (p.Asp2388Gly) c.960A>G c.*6072A>G (n.*6072A>G) c.2937A>G c.953A>G c.2608A>G (n.2608A>G) c.4250A>G c.2330A>G (n.2330A>G) c.2620A>G c.6908A>G (p.Asp2303Gly) n.3147A>G c.2846A>G (p.Asp949Gly) n.370A>G c.4459A>G n.3844A>G c.5960A>G (p.Asp1987Gly) n.485-8709T>C c.4079A>G (p.Asp1360Gly) c.3425A>G (p.Asp1142Gly) | |
12 | g.40363536A>T | CA384413580 | LRRK2 | c.7163A>T (p.Asp2388Val) c.960A>T c.*6072A>T (n.*6072A>T) c.2937A>T c.953A>T c.2608A>T (n.2608A>T) c.4250A>T c.2330A>T (n.2330A>T) c.2620A>T c.6908A>T (p.Asp2303Val) n.3147A>T c.2846A>T (p.Asp949Val) n.370A>T c.4459A>T n.3844A>T c.5960A>T (p.Asp1987Val) n.485-8709T>A c.4079A>T (p.Asp1360Val) c.3425A>T (p.Asp1142Val) | |
12 | g.40363537C>A | CA384413584 | LRRK2 | c.7164C>A (p.Asp2388Glu) c.961C>A c.*6073C>A (n.*6073C>A) c.2938C>A c.954C>A c.2609C>A (n.2609C>A) c.4251C>A c.2331C>A (n.2331C>A) c.2621C>A c.6909C>A (p.Asp2303Glu) n.3148C>A c.2847C>A (p.Asp949Glu) n.371C>A c.4460C>A n.3845C>A c.5961C>A (p.Asp1987Glu) n.485-8710G>T c.4080C>A (p.Asp1360Glu) c.3426C>A (p.Asp1142Glu) | |
12 | g.40363537C>G | CA384413585 | LRRK2 | c.7164C>G (p.Asp2388Glu) c.961C>G c.*6073C>G (n.*6073C>G) c.2938C>G c.954C>G c.2609C>G (n.2609C>G) c.4251C>G c.2331C>G (n.2331C>G) c.2621C>G c.6909C>G (p.Asp2303Glu) n.3148C>G c.2847C>G (p.Asp949Glu) n.371C>G c.4460C>G n.3845C>G c.5961C>G (p.Asp1987Glu) n.485-8710G>C c.4080C>G (p.Asp1360Glu) c.3426C>G (p.Asp1142Glu) | ClinVar |
12 | g.40363537C>T | CA479247619 | LRRK2 | c.7164C>T (p.Asp2388=) c.961C>T c.*6073C>T (n.*6073C>T) c.2938C>T c.954C>T c.2609C>T (n.2609C>T) c.4251C>T c.2331C>T (n.2331C>T) c.2621C>T c.6909C>T (p.Asp2303=) n.3148C>T c.2847C>T (p.Asp949=) n.371C>T c.4460C>T n.3845C>T c.5961C>T (p.Asp1987=) n.485-8710G>A c.4080C>T (p.Asp1360=) c.3426C>T (p.Asp1142=) | ClinVar |
12 | g.40363537_40363540del | CA2575122361 | LRRK2 | c.7164_7167del (p.Asp2388GlufsTer5) c.961_964del c.*6073_*6076del (n.*6073_*6076del) c.2938_2941del c.954_957del c.2609_2612del (n.2609_2612del) c.4251_4254del c.2331_2334del (n.2331_2334del) c.2621_2624del c.6909_6912del (p.Asp2303GlufsTer5) n.3148_3151del c.2847_2850del (p.Asp949GlufsTer5) n.371_374del c.4460_4463del n.3845_3848del c.5961_5964del (p.Asp1987GlufsTer5) n.485-8713_485-8710del c.4080_4083del (p.Asp1360GlufsTer5) c.3426_3429del (p.Asp1142GlufsTer5) | |
12 | g.40363538T>A | CA384413586 | LRRK2 | c.7165T>A (p.Cys2389Ser) c.962T>A c.*6074T>A (n.*6074T>A) c.2939T>A c.955T>A c.2610T>A (n.2610T>A) c.4252T>A c.2332T>A (n.2332T>A) c.2622T>A c.6910T>A (p.Cys2304Ser) n.3149T>A c.2848T>A (p.Cys950Ser) n.372T>A c.4461T>A n.3846T>A c.5962T>A (p.Cys1988Ser) n.485-8711A>T c.4081T>A (p.Cys1361Ser) c.3427T>A (p.Cys1143Ser) | gnomAD v4 |
12 | g.40363538T>C | CA384413588 | LRRK2 | c.7165T>C (p.Cys2389Arg) c.962T>C c.*6074T>C (n.*6074T>C) c.2939T>C c.955T>C c.2610T>C (n.2610T>C) c.4252T>C c.2332T>C (n.2332T>C) c.2622T>C c.6910T>C (p.Cys2304Arg) n.3149T>C c.2848T>C (p.Cys950Arg) n.372T>C c.4461T>C n.3846T>C c.5962T>C (p.Cys1988Arg) n.485-8711A>G c.4081T>C (p.Cys1361Arg) c.3427T>C (p.Cys1143Arg) | |
12 | g.40363538T>G | CA384413589 | LRRK2 | c.7165T>G (p.Cys2389Gly) c.962T>G c.*6074T>G (n.*6074T>G) c.2939T>G c.955T>G c.2610T>G (n.2610T>G) c.4252T>G c.2332T>G (n.2332T>G) c.2622T>G c.6910T>G (p.Cys2304Gly) n.3149T>G c.2848T>G (p.Cys950Gly) n.372T>G c.4461T>G n.3846T>G c.5962T>G (p.Cys1988Gly) n.485-8711A>C c.4081T>G (p.Cys1361Gly) c.3427T>G (p.Cys1143Gly) | |
12 | g.40363541_40363544del | CA2618286438 | LRRK2 | c.7168_7171del (p.Val2390ThrfsTer3) c.965_968del c.*6077_*6080del (n.*6077_*6080del) c.2942_2945del c.958_961del c.2613_2616del (n.2613_2616del) c.4255_4258del c.2335_2338del (n.2335_2338del) c.2625_2628del c.6913_6916del (p.Val2305ThrfsTer3) n.3152_3155del c.2851_2854del (p.Val951ThrfsTer3) n.375_378del c.4464_4467del n.3849_3852del c.5965_5968del (p.Val1989ThrfsTer3) n.485-8714_485-8711del c.4084_4087del (p.Val1362ThrfsTer3) c.3430_3433del (p.Val1144ThrfsTer3) | gnomAD v4 |
12 | g.40363539G>A | CA384413591 | LRRK2 | c.7166G>A (p.Cys2389Tyr) c.963G>A c.*6075G>A (n.*6075G>A) c.2940G>A c.956G>A c.2611G>A (n.2611G>A) c.4253G>A c.2333G>A (n.2333G>A) c.2623G>A c.6911G>A (p.Cys2304Tyr) n.3150G>A c.2849G>A (p.Cys950Tyr) n.373G>A c.4462G>A n.3847G>A c.5963G>A (p.Cys1988Tyr) n.485-8712C>T c.4082G>A (p.Cys1361Tyr) c.3428G>A (p.Cys1143Tyr) | gnomAD v4 |
12 | g.40363539G>C | CA384413595 | LRRK2 | c.7166G>C (p.Cys2389Ser) c.963G>C c.*6075G>C (n.*6075G>C) c.2940G>C c.956G>C c.2611G>C (n.2611G>C) c.4253G>C c.2333G>C (n.2333G>C) c.2623G>C c.6911G>C (p.Cys2304Ser) n.3150G>C c.2849G>C (p.Cys950Ser) n.373G>C c.4462G>C n.3847G>C c.5963G>C (p.Cys1988Ser) n.485-8712C>G c.4082G>C (p.Cys1361Ser) c.3428G>C (p.Cys1143Ser) | |
12 | g.40363539G>T | CA384413597 | LRRK2 | c.7166G>T (p.Cys2389Phe) c.963G>T c.*6075G>T (n.*6075G>T) c.2940G>T c.956G>T c.2611G>T (n.2611G>T) c.4253G>T c.2333G>T (n.2333G>T) c.2623G>T c.6911G>T (p.Cys2304Phe) n.3150G>T c.2849G>T (p.Cys950Phe) n.373G>T c.4462G>T n.3847G>T c.5963G>T (p.Cys1988Phe) n.485-8712C>A c.4082G>T (p.Cys1361Phe) c.3428G>T (p.Cys1143Phe) | |
12 | g.40363540C>A | CA6514856 | LRRK2 | c.7167C>A (p.Cys2389Ter) c.964C>A c.*6076C>A (n.*6076C>A) c.2941C>A c.957C>A c.2612C>A (n.2612C>A) c.4254C>A c.2334C>A (n.2334C>A) c.2624C>A c.6912C>A (p.Cys2304Ter) n.3151C>A c.2850C>A (p.Cys950Ter) n.374C>A c.4463C>A n.3848C>A c.5964C>A (p.Cys1988Ter) n.485-8713G>T c.4083C>A (p.Cys1361Ter) c.3429C>A (p.Cys1143Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.40363540C= | CA2031026067 | LRRK2 | c.7167C= (p.Cys2389=) c.964C= c.*6076C= (n.*6076C=) c.2941C= c.957C= c.2612C= (n.2612C=) c.4254C= c.2334C= (n.2334C=) c.2624C= c.6912C= (p.Cys2304=) n.3151C= c.2850C= (p.Cys950=) n.374C= c.4463C= n.3848C= c.5964C= (p.Cys1988=) n.485-8713G= c.4083C= (p.Cys1361=) c.3429C= (p.Cys1143=) | |
12 | g.40363540C>G | CA6514857 | LRRK2 | c.7167C>G (p.Cys2389Trp) c.964C>G c.*6076C>G (n.*6076C>G) c.2941C>G c.957C>G c.2612C>G (n.2612C>G) c.4254C>G c.2334C>G (n.2334C>G) c.2624C>G c.6912C>G (p.Cys2304Trp) n.3151C>G c.2850C>G (p.Cys950Trp) n.374C>G c.4463C>G n.3848C>G c.5964C>G (p.Cys1988Trp) n.485-8713G>C c.4083C>G (p.Cys1361Trp) c.3429C>G (p.Cys1143Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.40363540C>T | CA6514855 | LRRK2 | c.7167C>T (p.Cys2389=) c.964C>T c.*6076C>T (n.*6076C>T) c.2941C>T c.957C>T c.2612C>T (n.2612C>T) c.4254C>T c.2334C>T (n.2334C>T) c.2624C>T c.6912C>T (p.Cys2304=) n.3151C>T c.2850C>T (p.Cys950=) n.374C>T c.4463C>T n.3848C>T c.5964C>T (p.Cys1988=) n.485-8713G>A c.4083C>T (p.Cys1361=) c.3429C>T (p.Cys1143=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.40363541G>A | CA343681 | LRRK2 | c.7168G>A (p.Val2390Met) c.965G>A c.*6077G>A (n.*6077G>A) c.2942G>A c.958G>A c.2613G>A (n.2613G>A) c.4255G>A c.2335G>A (n.2335G>A) c.2625G>A c.6913G>A (p.Val2305Met) n.3152G>A c.2851G>A (p.Val951Met) n.375G>A c.4464G>A n.3849G>A c.5965G>A (p.Val1989Met) n.485-8714C>T c.4084G>A (p.Val1362Met) c.3430G>A (p.Val1144Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.40363541G>C | CA384413602 | LRRK2 | c.7168G>C (p.Val2390Leu) c.965G>C c.*6077G>C (n.*6077G>C) c.2942G>C c.958G>C c.2613G>C (n.2613G>C) c.4255G>C c.2335G>C (n.2335G>C) c.2625G>C c.6913G>C (p.Val2305Leu) n.3152G>C c.2851G>C (p.Val951Leu) n.375G>C c.4464G>C n.3849G>C c.5965G>C (p.Val1989Leu) n.485-8714C>G c.4084G>C (p.Val1362Leu) c.3430G>C (p.Val1144Leu) | |
12 | g.40363541G= | CA2031026077 | LRRK2 | c.7168G= (p.Val2390=) c.965G= c.*6077G= (n.*6077G=) c.2942G= c.958G= c.2613G= (n.2613G=) c.4255G= c.2335G= (n.2335G=) c.2625G= c.6913G= (p.Val2305=) n.3152G= c.2851G= (p.Val951=) n.375G= c.4464G= n.3849G= c.5965G= (p.Val1989=) n.485-8714C= c.4084G= (p.Val1362=) c.3430G= (p.Val1144=) | |
12 | g.40363541G>T | CA384413603 | LRRK2 | c.7168G>T (p.Val2390Leu) c.965G>T c.*6077G>T (n.*6077G>T) c.2942G>T c.958G>T c.2613G>T (n.2613G>T) c.4255G>T c.2335G>T (n.2335G>T) c.2625G>T c.6913G>T (p.Val2305Leu) n.3152G>T c.2851G>T (p.Val951Leu) n.375G>T c.4464G>T n.3849G>T c.5965G>T (p.Val1989Leu) n.485-8714C>A c.4084G>T (p.Val1362Leu) c.3430G>T (p.Val1144Leu) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.40363542T>A | CA235359710 | LRRK2 | c.7169T>A (p.Val2390Glu) c.966T>A c.*6078T>A (n.*6078T>A) c.2943T>A c.959T>A c.2614T>A (n.2614T>A) c.4256T>A c.2336T>A (n.2336T>A) c.2626T>A c.6914T>A (p.Val2305Glu) n.3153T>A c.2852T>A (p.Val951Glu) n.376T>A c.4465T>A n.3850T>A c.5966T>A (p.Val1989Glu) n.485-8715A>T c.4085T>A (p.Val1362Glu) c.3431T>A (p.Val1144Glu) | dbSNP |
12 | g.40363542T>C | CA6514858 | LRRK2 | c.7169T>C (p.Val2390Ala) c.966T>C c.*6078T>C (n.*6078T>C) c.2943T>C c.959T>C c.2614T>C (n.2614T>C) c.4256T>C c.2336T>C (n.2336T>C) c.2626T>C c.6914T>C (p.Val2305Ala) n.3153T>C c.2852T>C (p.Val951Ala) n.376T>C c.4465T>C n.3850T>C c.5966T>C (p.Val1989Ala) n.485-8715A>G c.4085T>C (p.Val1362Ala) c.3431T>C (p.Val1144Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.40363542T>G | CA384413604 | LRRK2 | c.7169T>G (p.Val2390Gly) c.966T>G c.*6078T>G (n.*6078T>G) c.2943T>G c.959T>G c.2614T>G (n.2614T>G) c.4256T>G c.2336T>G (n.2336T>G) c.2626T>G c.6914T>G (p.Val2305Gly) n.3153T>G c.2852T>G (p.Val951Gly) n.376T>G c.4465T>G n.3850T>G c.5966T>G (p.Val1989Gly) n.485-8715A>C c.4085T>G (p.Val1362Gly) c.3431T>G (p.Val1144Gly) | |
12 | g.40363542T= | CA2031026083 | LRRK2 | c.7169T= (p.Val2390=) c.966T= c.*6078T= (n.*6078T=) c.2943T= c.959T= c.2614T= (n.2614T=) c.4256T= c.2336T= (n.2336T=) c.2626T= c.6914T= (p.Val2305=) n.3153T= c.2852T= (p.Val951=) n.376T= c.4465T= n.3850T= c.5966T= (p.Val1989=) n.485-8715A= c.4085T= (p.Val1362=) c.3431T= (p.Val1144=) | |
12 | g.40363543G>A | CA479247642 | LRRK2 | c.7170G>A (p.Val2390=) c.967G>A c.*6079G>A (n.*6079G>A) c.2944G>A c.960G>A c.2615G>A (n.2615G>A) c.4257G>A c.2337G>A (n.2337G>A) c.2627G>A c.6915G>A (p.Val2305=) n.3154G>A c.2853G>A (p.Val951=) n.377G>A c.4466G>A n.3851G>A c.5967G>A (p.Val1989=) n.485-8716C>T c.4086G>A (p.Val1362=) c.3432G>A (p.Val1144=) | dbSNP |
12 | g.40363543G>C | CA479247641 | LRRK2 | c.7170G>C (p.Val2390=) c.967G>C c.*6079G>C (n.*6079G>C) c.2944G>C c.960G>C c.2615G>C (n.2615G>C) c.4257G>C c.2337G>C (n.2337G>C) c.2627G>C c.6915G>C (p.Val2305=) n.3154G>C c.2853G>C (p.Val951=) n.377G>C c.4466G>C n.3851G>C c.5967G>C (p.Val1989=) n.485-8716C>G c.4086G>C (p.Val1362=) c.3432G>C (p.Val1144=) | |
12 | g.40363543G= | CA2031026084 | LRRK2 | c.7170G= (p.Val2390=) c.967G= c.*6079G= (n.*6079G=) c.2944G= c.960G= c.2615G= (n.2615G=) c.4257G= c.2337G= (n.2337G=) c.2627G= c.6915G= (p.Val2305=) n.3154G= c.2853G= (p.Val951=) n.377G= c.4466G= n.3851G= c.5967G= (p.Val1989=) n.485-8716C= c.4086G= (p.Val1362=) c.3432G= (p.Val1144=) | |
12 | g.40363543G>T | CA479247639 | LRRK2 | c.7170G>T (p.Val2390=) c.967G>T c.*6079G>T (n.*6079G>T) c.2944G>T c.960G>T c.2615G>T (n.2615G>T) c.4257G>T c.2337G>T (n.2337G>T) c.2627G>T c.6915G>T (p.Val2305=) n.3154G>T c.2853G>T (p.Val951=) n.377G>T c.4466G>T n.3851G>T c.5967G>T (p.Val1989=) n.485-8716C>A c.4086G>T (p.Val1362=) c.3432G>T (p.Val1144=) | dbSNP gnomAD v4 |
12 | g.40363544C>A | CA384413607 | LRRK2 | c.7171C>A (p.His2391Asn) c.968C>A c.*6080C>A (n.*6080C>A) c.2945C>A c.961C>A c.2616C>A (n.2616C>A) c.4258C>A c.2338C>A (n.2338C>A) c.2628C>A c.6916C>A (p.His2306Asn) n.3155C>A c.2854C>A (p.His952Asn) n.378C>A c.4467C>A n.3852C>A c.5968C>A (p.His1990Asn) n.485-8717G>T c.4087C>A (p.His1363Asn) c.3433C>A (p.His1145Asn) | |
12 | g.40363544C>G | CA384413608 | LRRK2 | c.7171C>G (p.His2391Asp) c.968C>G c.*6080C>G (n.*6080C>G) c.2945C>G c.961C>G c.2616C>G (n.2616C>G) c.4258C>G c.2338C>G (n.2338C>G) c.2628C>G c.6916C>G (p.His2306Asp) n.3155C>G c.2854C>G (p.His952Asp) n.378C>G c.4467C>G n.3852C>G c.5968C>G (p.His1990Asp) n.485-8717G>C c.4087C>G (p.His1363Asp) c.3433C>G (p.His1145Asp) | |
12 | g.40363544C>T | CA384413610 | LRRK2 | c.7171C>T (p.His2391Tyr) c.968C>T c.*6080C>T (n.*6080C>T) c.2945C>T c.961C>T c.2616C>T (n.2616C>T) c.4258C>T c.2338C>T (n.2338C>T) c.2628C>T c.6916C>T (p.His2306Tyr) n.3155C>T c.2854C>T (p.His952Tyr) n.378C>T c.4467C>T n.3852C>T c.5968C>T (p.His1990Tyr) n.485-8717G>A c.4087C>T (p.His1363Tyr) c.3433C>T (p.His1145Tyr) | gnomAD v4 COSMIC COSMIC |
12 | g.40363545A>C | CA384413612 | LRRK2 | c.7172A>C (p.His2391Pro) c.969A>C c.*6081A>C (n.*6081A>C) c.2946A>C c.962A>C c.2617A>C (n.2617A>C) c.4259A>C c.2339A>C (n.2339A>C) c.2629A>C c.6917A>C (p.His2306Pro) n.3156A>C c.2855A>C (p.His952Pro) n.379A>C c.4468A>C n.3853A>C c.5969A>C (p.His1990Pro) n.485-8718T>G c.4088A>C (p.His1363Pro) c.3434A>C (p.His1145Pro) | gnomAD v4 |
12 | g.40363545A>G | CA384413614 | LRRK2 | c.7172A>G (p.His2391Arg) c.969A>G c.*6081A>G (n.*6081A>G) c.2946A>G c.962A>G c.2617A>G (n.2617A>G) c.4259A>G c.2339A>G (n.2339A>G) c.2629A>G c.6917A>G (p.His2306Arg) n.3156A>G c.2855A>G (p.His952Arg) n.379A>G c.4468A>G n.3853A>G c.5969A>G (p.His1990Arg) n.485-8718T>C c.4088A>G (p.His1363Arg) c.3434A>G (p.His1145Arg) | COSMIC COSMIC |
12 | g.40363545A>T | CA384413615 | LRRK2 | c.7172A>T (p.His2391Leu) c.969A>T c.*6081A>T (n.*6081A>T) c.2946A>T c.962A>T c.2617A>T (n.2617A>T) c.4259A>T c.2339A>T (n.2339A>T) c.2629A>T c.6917A>T (p.His2306Leu) n.3156A>T c.2855A>T (p.His952Leu) n.379A>T c.4468A>T n.3853A>T c.5969A>T (p.His1990Leu) n.485-8718T>A c.4088A>T (p.His1363Leu) c.3434A>T (p.His1145Leu) |