UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.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) |