Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.40363405_40363406dup | CA946846822 | LRRK2 | c.7032_7033dup (p.Ser2345PhefsTer12) c.829_830dup c.*5941_*5942dup (n.*5941_*5942dup) c.2806_2807dup c.822_823dup c.2477_2478dup (n.2477_2478dup) c.4119_4120dup c.2199_2200dup (n.2199_2200dup) c.2489_2490dup c.6777_6778dup (p.Ser2260PhefsTer12) n.3016_3017dup c.2715_2716dup (p.Ser906PhefsTer12) n.239_240dup c.4328_4329dup n.3713_3714dup c.5829_5830dup (p.Ser1944PhefsTer12) n.485-8577_485-8576dup c.3948_3949dup (p.Ser1317PhefsTer12) c.3294_3295dup (p.Ser1099PhefsTer12) | gnomAD v3 gnomAD v4 |
12 | g.40363406T>A | CA384413045 | LRRK2 | c.7033T>A (p.Ser2345Thr) c.830T>A c.*5942T>A (n.*5942T>A) c.2807T>A c.823T>A c.2478T>A (n.2478T>A) c.4120T>A c.2200T>A (n.2200T>A) c.2490T>A c.6778T>A (p.Ser2260Thr) n.3017T>A c.2716T>A (p.Ser906Thr) n.240T>A c.4329T>A n.3714T>A c.5830T>A (p.Ser1944Thr) n.485-8579A>T c.3949T>A (p.Ser1317Thr) c.3295T>A (p.Ser1099Thr) | |
12 | g.40363406T>C | CA384413047 | LRRK2 | c.7033T>C (p.Ser2345Pro) c.830T>C c.*5942T>C (n.*5942T>C) c.2807T>C c.823T>C c.2478T>C (n.2478T>C) c.4120T>C c.2200T>C (n.2200T>C) c.2490T>C c.6778T>C (p.Ser2260Pro) n.3017T>C c.2716T>C (p.Ser906Pro) n.240T>C c.4329T>C n.3714T>C c.5830T>C (p.Ser1944Pro) n.485-8579A>G c.3949T>C (p.Ser1317Pro) c.3295T>C (p.Ser1099Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.40363406T>G | CA384413048 | LRRK2 | c.7033T>G (p.Ser2345Ala) c.830T>G c.*5942T>G (n.*5942T>G) c.2807T>G c.823T>G c.2478T>G (n.2478T>G) c.4120T>G c.2200T>G (n.2200T>G) c.2490T>G c.6778T>G (p.Ser2260Ala) n.3017T>G c.2716T>G (p.Ser906Ala) n.240T>G c.4329T>G n.3714T>G c.5830T>G (p.Ser1944Ala) n.485-8579A>C c.3949T>G (p.Ser1317Ala) c.3295T>G (p.Ser1099Ala) | |
12 | g.40363406T= | CA2031025717 | LRRK2 | c.7033T= (p.Ser2345=) c.830T= c.*5942T= (n.*5942T=) c.2807T= c.823T= c.2478T= (n.2478T=) c.4120T= c.2200T= (n.2200T=) c.2490T= c.6778T= (p.Ser2260=) n.3017T= c.2716T= (p.Ser906=) n.240T= c.4329T= n.3714T= c.5830T= (p.Ser1944=) n.485-8579A= c.3949T= (p.Ser1317=) c.3295T= (p.Ser1099=) | |
12 | g.40363407C>A | CA384413050 | LRRK2 | c.7034C>A (p.Ser2345Tyr) c.831C>A c.*5943C>A (n.*5943C>A) c.2808C>A c.824C>A c.2479C>A (n.2479C>A) c.4121C>A c.2201C>A (n.2201C>A) c.2491C>A c.6779C>A (p.Ser2260Tyr) n.3018C>A c.2717C>A (p.Ser906Tyr) n.241C>A c.4330C>A n.3715C>A c.5831C>A (p.Ser1944Tyr) n.485-8580G>T c.3950C>A (p.Ser1317Tyr) c.3296C>A (p.Ser1099Tyr) | |
12 | g.40363407C>G | CA384413053 | LRRK2 | c.7034C>G (p.Ser2345Cys) c.831C>G c.*5943C>G (n.*5943C>G) c.2808C>G c.824C>G c.2479C>G (n.2479C>G) c.4121C>G c.2201C>G (n.2201C>G) c.2491C>G c.6779C>G (p.Ser2260Cys) n.3018C>G c.2717C>G (p.Ser906Cys) n.241C>G c.4330C>G n.3715C>G c.5831C>G (p.Ser1944Cys) n.485-8580G>C c.3950C>G (p.Ser1317Cys) c.3296C>G (p.Ser1099Cys) | |
12 | g.40363407C>T | CA384413055 | LRRK2 | c.7034C>T (p.Ser2345Phe) c.831C>T c.*5943C>T (n.*5943C>T) c.2808C>T c.824C>T c.2479C>T (n.2479C>T) c.4121C>T c.2201C>T (n.2201C>T) c.2491C>T c.6779C>T (p.Ser2260Phe) n.3018C>T c.2717C>T (p.Ser906Phe) n.241C>T c.4330C>T n.3715C>T c.5831C>T (p.Ser1944Phe) n.485-8580G>A c.3950C>T (p.Ser1317Phe) c.3296C>T (p.Ser1099Phe) | gnomAD v3 gnomAD v4 |
12 | g.40363408T>A | CA479247126 | LRRK2 | c.7035T>A (p.Ser2345=) c.832T>A c.*5944T>A (n.*5944T>A) c.2809T>A c.825T>A c.2480T>A (n.2480T>A) c.4122T>A c.2202T>A (n.2202T>A) c.2492T>A c.6780T>A (p.Ser2260=) n.3019T>A c.2718T>A (p.Ser906=) n.242T>A c.4331T>A n.3716T>A c.5832T>A (p.Ser1944=) n.485-8581A>T c.3951T>A (p.Ser1317=) c.3297T>A (p.Ser1099=) | |
12 | g.40363408T>C | CA479247130 | LRRK2 | c.7035T>C (p.Ser2345=) c.832T>C c.*5944T>C (n.*5944T>C) c.2809T>C c.825T>C c.2480T>C (n.2480T>C) c.4122T>C c.2202T>C (n.2202T>C) c.2492T>C c.6780T>C (p.Ser2260=) n.3019T>C c.2718T>C (p.Ser906=) n.242T>C c.4331T>C n.3716T>C c.5832T>C (p.Ser1944=) n.485-8581A>G c.3951T>C (p.Ser1317=) c.3297T>C (p.Ser1099=) | ClinVar gnomAD v4 |
12 | g.40363408T>G | CA479247128 | LRRK2 | c.7035T>G (p.Ser2345=) c.832T>G c.*5944T>G (n.*5944T>G) c.2809T>G c.825T>G c.2480T>G (n.2480T>G) c.4122T>G c.2202T>G (n.2202T>G) c.2492T>G c.6780T>G (p.Ser2260=) n.3019T>G c.2718T>G (p.Ser906=) n.242T>G c.4331T>G n.3716T>G c.5832T>G (p.Ser1944=) n.485-8581A>C c.3951T>G (p.Ser1317=) c.3297T>G (p.Ser1099=) | |
12 | g.40363409T>A | CA384413063 | LRRK2 | c.7036T>A (p.Tyr2346Asn) c.833T>A c.*5945T>A (n.*5945T>A) c.2810T>A c.826T>A c.2481T>A (n.2481T>A) c.4123T>A c.2203T>A (n.2203T>A) c.2493T>A c.6781T>A (p.Tyr2261Asn) n.3020T>A c.2719T>A (p.Tyr907Asn) n.243T>A c.4332T>A n.3717T>A c.5833T>A (p.Tyr1945Asn) n.485-8582A>T c.3952T>A (p.Tyr1318Asn) c.3298T>A (p.Tyr1100Asn) | |
12 | g.40363409T>C | CA6514838 | LRRK2 | c.7036T>C (p.Tyr2346His) c.833T>C c.*5945T>C (n.*5945T>C) c.2810T>C c.826T>C c.2481T>C (n.2481T>C) c.4123T>C c.2203T>C (n.2203T>C) c.2493T>C c.6781T>C (p.Tyr2261His) n.3020T>C c.2719T>C (p.Tyr907His) n.243T>C c.4332T>C n.3717T>C c.5833T>C (p.Tyr1945His) n.485-8582A>G c.3952T>C (p.Tyr1318His) c.3298T>C (p.Tyr1100His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.40363409T>G | CA384413058 | LRRK2 | c.7036T>G (p.Tyr2346Asp) c.833T>G c.*5945T>G (n.*5945T>G) c.2810T>G c.826T>G c.2481T>G (n.2481T>G) c.4123T>G c.2203T>G (n.2203T>G) c.2493T>G c.6781T>G (p.Tyr2261Asp) n.3020T>G c.2719T>G (p.Tyr907Asp) n.243T>G c.4332T>G n.3717T>G c.5833T>G (p.Tyr1945Asp) n.485-8582A>C c.3952T>G (p.Tyr1318Asp) c.3298T>G (p.Tyr1100Asp) | |
12 | g.40363409T= | CA2031025723 | LRRK2 | c.7036T= (p.Tyr2346=) c.833T= c.*5945T= (n.*5945T=) c.2810T= c.826T= c.2481T= (n.2481T=) c.4123T= c.2203T= (n.2203T=) c.2493T= c.6781T= (p.Tyr2261=) n.3020T= c.2719T= (p.Tyr907=) n.243T= c.4332T= n.3717T= c.5833T= (p.Tyr1945=) n.485-8582A= c.3952T= (p.Tyr1318=) c.3298T= (p.Tyr1100=) | |
12 | g.40363410A= | CA2031025729 | LRRK2 | c.7037A= (p.Tyr2346=) c.834A= c.*5946A= (n.*5946A=) c.2811A= c.827A= c.2482A= (n.2482A=) c.4124A= c.2204A= (n.2204A=) c.2494A= c.6782A= (p.Tyr2261=) n.3021A= c.2720A= (p.Tyr907=) n.244A= c.4333A= n.3718A= c.5834A= (p.Tyr1945=) n.485-8583T= c.3953A= (p.Tyr1318=) c.3299A= (p.Tyr1100=) | |
12 | g.40363410A>C | CA384413065 | LRRK2 | c.7037A>C (p.Tyr2346Ser) c.834A>C c.*5946A>C (n.*5946A>C) c.2811A>C c.827A>C c.2482A>C (n.2482A>C) c.4124A>C c.2204A>C (n.2204A>C) c.2494A>C c.6782A>C (p.Tyr2261Ser) n.3021A>C c.2720A>C (p.Tyr907Ser) n.244A>C c.4333A>C n.3718A>C c.5834A>C (p.Tyr1945Ser) n.485-8583T>G c.3953A>C (p.Tyr1318Ser) c.3299A>C (p.Tyr1100Ser) | |
12 | g.40363410A>G | CA235359538 | LRRK2 | c.7037A>G (p.Tyr2346Cys) c.834A>G c.*5946A>G (n.*5946A>G) c.2811A>G c.827A>G c.2482A>G (n.2482A>G) c.4124A>G c.2204A>G (n.2204A>G) c.2494A>G c.6782A>G (p.Tyr2261Cys) n.3021A>G c.2720A>G (p.Tyr907Cys) n.244A>G c.4333A>G n.3718A>G c.5834A>G (p.Tyr1945Cys) n.485-8583T>C c.3953A>G (p.Tyr1318Cys) c.3299A>G (p.Tyr1100Cys) | dbSNP gnomAD v4 |
12 | g.40363410A>T | CA6514839 | LRRK2 | c.7037A>T (p.Tyr2346Phe) c.834A>T c.*5946A>T (n.*5946A>T) c.2811A>T c.827A>T c.2482A>T (n.2482A>T) c.4124A>T c.2204A>T (n.2204A>T) c.2494A>T c.6782A>T (p.Tyr2261Phe) n.3021A>T c.2720A>T (p.Tyr907Phe) n.244A>T c.4333A>T n.3718A>T c.5834A>T (p.Tyr1945Phe) n.485-8583T>A c.3953A>T (p.Tyr1318Phe) c.3299A>T (p.Tyr1100Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.40363411T>A | CA384413070 | LRRK2 | c.7038T>A (p.Tyr2346Ter) c.835T>A c.*5947T>A (n.*5947T>A) c.2812T>A c.828T>A c.2483T>A (n.2483T>A) c.4125T>A c.2205T>A (n.2205T>A) c.2495T>A c.6783T>A (p.Tyr2261Ter) n.3022T>A c.2721T>A (p.Tyr907Ter) n.245T>A c.4334T>A n.3719T>A c.5835T>A (p.Tyr1945Ter) n.485-8584A>T c.3954T>A (p.Tyr1318Ter) c.3300T>A (p.Tyr1100Ter) | |
12 | g.40363411T>C | CA479247140 | LRRK2 | c.7038T>C (p.Tyr2346=) c.835T>C c.*5947T>C (n.*5947T>C) c.2812T>C c.828T>C c.2483T>C (n.2483T>C) c.4125T>C c.2205T>C (n.2205T>C) c.2495T>C c.6783T>C (p.Tyr2261=) n.3022T>C c.2721T>C (p.Tyr907=) n.245T>C c.4334T>C n.3719T>C c.5835T>C (p.Tyr1945=) n.485-8584A>G c.3954T>C (p.Tyr1318=) c.3300T>C (p.Tyr1100=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.40363411T>G | CA384413072 | LRRK2 | c.7038T>G (p.Tyr2346Ter) c.835T>G c.*5947T>G (n.*5947T>G) c.2812T>G c.828T>G c.2483T>G (n.2483T>G) c.4125T>G c.2205T>G (n.2205T>G) c.2495T>G c.6783T>G (p.Tyr2261Ter) n.3022T>G c.2721T>G (p.Tyr907Ter) n.245T>G c.4334T>G n.3719T>G c.5835T>G (p.Tyr1945Ter) n.485-8584A>C c.3954T>G (p.Tyr1318Ter) c.3300T>G (p.Tyr1100Ter) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.40363411T= | CA2031025738 | LRRK2 | c.7038T= (p.Tyr2346=) c.835T= c.*5947T= (n.*5947T=) c.2812T= c.828T= c.2483T= (n.2483T=) c.4125T= c.2205T= (n.2205T=) c.2495T= c.6783T= (p.Tyr2261=) n.3022T= c.2721T= (p.Tyr907=) n.245T= c.4334T= n.3719T= c.5835T= (p.Tyr1945=) n.485-8584A= c.3954T= (p.Tyr1318=) c.3300T= (p.Tyr1100=) | |
12 | g.40363412G>A | CA6514840 | LRRK2 | c.7039G>A (p.Ala2347Thr) c.836G>A c.*5948G>A (n.*5948G>A) c.2813G>A c.829G>A c.2484G>A (n.2484G>A) c.4126G>A c.2206G>A (n.2206G>A) c.2496G>A c.6784G>A (p.Ala2262Thr) n.3023G>A c.2722G>A (p.Ala908Thr) n.246G>A c.4335G>A n.3720G>A c.5836G>A (p.Ala1946Thr) n.485-8585C>T c.3955G>A (p.Ala1319Thr) c.3301G>A (p.Ala1101Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.40363412G>C | CA384413076 | LRRK2 | c.7039G>C (p.Ala2347Pro) c.836G>C c.*5948G>C (n.*5948G>C) c.2813G>C c.829G>C c.2484G>C (n.2484G>C) c.4126G>C c.2206G>C (n.2206G>C) c.2496G>C c.6784G>C (p.Ala2262Pro) n.3023G>C c.2722G>C (p.Ala908Pro) n.246G>C c.4335G>C n.3720G>C c.5836G>C (p.Ala1946Pro) n.485-8585C>G c.3955G>C (p.Ala1319Pro) c.3301G>C (p.Ala1101Pro) | |
12 | g.40363412G= | CA2031025744 | LRRK2 | c.7039G= (p.Ala2347=) c.836G= c.*5948G= (n.*5948G=) c.2813G= c.829G= c.2484G= (n.2484G=) c.4126G= c.2206G= (n.2206G=) c.2496G= c.6784G= (p.Ala2262=) n.3023G= c.2722G= (p.Ala908=) n.246G= c.4335G= n.3720G= c.5836G= (p.Ala1946=) n.485-8585C= c.3955G= (p.Ala1319=) c.3301G= (p.Ala1101=) | |
12 | g.40363412G>T | CA384413078 | LRRK2 | c.7039G>T (p.Ala2347Ser) c.836G>T c.*5948G>T (n.*5948G>T) c.2813G>T c.829G>T c.2484G>T (n.2484G>T) c.4126G>T c.2206G>T (n.2206G>T) c.2496G>T c.6784G>T (p.Ala2262Ser) n.3023G>T c.2722G>T (p.Ala908Ser) n.246G>T c.4335G>T n.3720G>T c.5836G>T (p.Ala1946Ser) n.485-8585C>A c.3955G>T (p.Ala1319Ser) c.3301G>T (p.Ala1101Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.40363413C>A | CA384413081 | LRRK2 | c.7040C>A (p.Ala2347Glu) c.837C>A c.*5949C>A (n.*5949C>A) c.2814C>A c.830C>A c.2485C>A (n.2485C>A) c.4127C>A c.2207C>A (n.2207C>A) c.2497C>A c.6785C>A (p.Ala2262Glu) n.3024C>A c.2723C>A (p.Ala908Glu) n.247C>A c.4336C>A n.3721C>A c.5837C>A (p.Ala1946Glu) n.485-8586G>T c.3956C>A (p.Ala1319Glu) c.3302C>A (p.Ala1101Glu) | |
12 | g.40363413C= | CA2031025751 | LRRK2 | c.7040C= (p.Ala2347=) c.837C= c.*5949C= (n.*5949C=) c.2814C= c.830C= c.2485C= (n.2485C=) c.4127C= c.2207C= (n.2207C=) c.2497C= c.6785C= (p.Ala2262=) n.3024C= c.2723C= (p.Ala908=) n.247C= c.4336C= n.3721C= c.5837C= (p.Ala1946=) n.485-8586G= c.3956C= (p.Ala1319=) c.3302C= (p.Ala1101=) | |
12 | g.40363413C>G | CA384413084 | LRRK2 | c.7040C>G (p.Ala2347Gly) c.837C>G c.*5949C>G (n.*5949C>G) c.2814C>G c.830C>G c.2485C>G (n.2485C>G) c.4127C>G c.2207C>G (n.2207C>G) c.2497C>G c.6785C>G (p.Ala2262Gly) n.3024C>G c.2723C>G (p.Ala908Gly) n.247C>G c.4336C>G n.3721C>G c.5837C>G (p.Ala1946Gly) n.485-8586G>C c.3956C>G (p.Ala1319Gly) c.3302C>G (p.Ala1101Gly) | |
12 | g.40363413C>T | CA384413087 | LRRK2 | c.7040C>T (p.Ala2347Val) c.837C>T c.*5949C>T (n.*5949C>T) c.2814C>T c.830C>T c.2485C>T (n.2485C>T) c.4127C>T c.2207C>T (n.2207C>T) c.2497C>T c.6785C>T (p.Ala2262Val) n.3024C>T c.2723C>T (p.Ala908Val) n.247C>T c.4336C>T n.3721C>T c.5837C>T (p.Ala1946Val) n.485-8586G>A c.3956C>T (p.Ala1319Val) c.3302C>T (p.Ala1101Val) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.40363414A>C | CA479247146 | LRRK2 | c.7041A>C (p.Ala2347=) c.838A>C c.*5950A>C (n.*5950A>C) c.2815A>C c.831A>C c.2486A>C (n.2486A>C) c.4128A>C c.2208A>C (n.2208A>C) c.2498A>C c.6786A>C (p.Ala2262=) n.3025A>C c.2724A>C (p.Ala908=) n.248A>C c.4337A>C n.3722A>C c.5838A>C (p.Ala1946=) n.485-8587T>G c.3957A>C (p.Ala1319=) c.3303A>C (p.Ala1101=) | |
12 | g.40363414A>G | CA479247148 | LRRK2 | c.7041A>G (p.Ala2347=) c.838A>G c.*5950A>G (n.*5950A>G) c.2815A>G c.831A>G c.2486A>G (n.2486A>G) c.4128A>G c.2208A>G (n.2208A>G) c.2498A>G c.6786A>G (p.Ala2262=) n.3025A>G c.2724A>G (p.Ala908=) n.248A>G c.4337A>G n.3722A>G c.5838A>G (p.Ala1946=) n.485-8587T>C c.3957A>G (p.Ala1319=) c.3303A>G (p.Ala1101=) | |
12 | g.40363414A>T | CA479247149 | LRRK2 | c.7041A>T (p.Ala2347=) c.838A>T c.*5950A>T (n.*5950A>T) c.2815A>T c.831A>T c.2486A>T (n.2486A>T) c.4128A>T c.2208A>T (n.2208A>T) c.2498A>T c.6786A>T (p.Ala2262=) n.3025A>T c.2724A>T (p.Ala908=) n.248A>T c.4337A>T n.3722A>T c.5838A>T (p.Ala1946=) n.485-8587T>A c.3957A>T (p.Ala1319=) c.3303A>T (p.Ala1101=) | |
12 | g.40363415G>A | CA384413090 | LRRK2 | c.7042G>A (p.Ala2348Thr) c.839G>A c.*5951G>A (n.*5951G>A) c.2816G>A c.832G>A c.2487G>A (n.2487G>A) c.4129G>A c.2209G>A (n.2209G>A) c.2499G>A c.6787G>A (p.Ala2263Thr) n.3026G>A c.2725G>A (p.Ala909Thr) n.249G>A c.4338G>A n.3723G>A c.5839G>A (p.Ala1947Thr) n.485-8588C>T c.3958G>A (p.Ala1320Thr) c.3304G>A (p.Ala1102Thr) | |
12 | g.40363415G>C | CA384413091 | LRRK2 | c.7042G>C (p.Ala2348Pro) c.839G>C c.*5951G>C (n.*5951G>C) c.2816G>C c.832G>C c.2487G>C (n.2487G>C) c.4129G>C c.2209G>C (n.2209G>C) c.2499G>C c.6787G>C (p.Ala2263Pro) n.3026G>C c.2725G>C (p.Ala909Pro) n.249G>C c.4338G>C n.3723G>C c.5839G>C (p.Ala1947Pro) n.485-8588C>G c.3958G>C (p.Ala1320Pro) c.3304G>C (p.Ala1102Pro) | |
12 | g.40363415G>T | CA384413092 | LRRK2 | c.7042G>T (p.Ala2348Ser) c.839G>T c.*5951G>T (n.*5951G>T) c.2816G>T c.832G>T c.2487G>T (n.2487G>T) c.4129G>T c.2209G>T (n.2209G>T) c.2499G>T c.6787G>T (p.Ala2263Ser) n.3026G>T c.2725G>T (p.Ala909Ser) n.249G>T c.4338G>T n.3723G>T c.5839G>T (p.Ala1947Ser) n.485-8588C>A c.3958G>T (p.Ala1320Ser) c.3304G>T (p.Ala1102Ser) | |
12 | g.40363416C>A | CA384413096 | LRRK2 | c.7043C>A (p.Ala2348Asp) c.840C>A c.*5952C>A (n.*5952C>A) c.2817C>A c.833C>A c.2488C>A (n.2488C>A) c.4130C>A c.2210C>A (n.2210C>A) c.2500C>A c.6788C>A (p.Ala2263Asp) n.3027C>A c.2726C>A (p.Ala909Asp) n.250C>A c.4339C>A n.3724C>A c.5840C>A (p.Ala1947Asp) n.485-8589G>T c.3959C>A (p.Ala1320Asp) c.3305C>A (p.Ala1102Asp) | gnomAD v4 |
12 | g.40363416C= | CA2031025758 | LRRK2 | c.7043C= (p.Ala2348=) c.840C= c.*5952C= (n.*5952C=) c.2817C= c.833C= c.2488C= (n.2488C=) c.4130C= c.2210C= (n.2210C=) c.2500C= c.6788C= (p.Ala2263=) n.3027C= c.2726C= (p.Ala909=) n.250C= c.4339C= n.3724C= c.5840C= (p.Ala1947=) n.485-8589G= c.3959C= (p.Ala1320=) c.3305C= (p.Ala1102=) | |
12 | g.40363416C>G | CA384413099 | LRRK2 | c.7043C>G (p.Ala2348Gly) c.840C>G c.*5952C>G (n.*5952C>G) c.2817C>G c.833C>G c.2488C>G (n.2488C>G) c.4130C>G c.2210C>G (n.2210C>G) c.2500C>G c.6788C>G (p.Ala2263Gly) n.3027C>G c.2726C>G (p.Ala909Gly) n.250C>G c.4339C>G n.3724C>G c.5840C>G (p.Ala1947Gly) n.485-8589G>C c.3959C>G (p.Ala1320Gly) c.3305C>G (p.Ala1102Gly) | ClinVar |
12 | g.40363416C>T | CA384413094 | LRRK2 | c.7043C>T (p.Ala2348Val) c.840C>T c.*5952C>T (n.*5952C>T) c.2817C>T c.833C>T c.2488C>T (n.2488C>T) c.4130C>T c.2210C>T (n.2210C>T) c.2500C>T c.6788C>T (p.Ala2263Val) n.3027C>T c.2726C>T (p.Ala909Val) n.250C>T c.4339C>T n.3724C>T c.5840C>T (p.Ala1947Val) n.485-8589G>A c.3959C>T (p.Ala1320Val) c.3305C>T (p.Ala1102Val) | dbSNP |
12 | g.40363417T>A | CA479247162 | LRRK2 | c.7044T>A (p.Ala2348=) c.841T>A c.*5953T>A (n.*5953T>A) c.2818T>A c.834T>A c.2489T>A (n.2489T>A) c.4131T>A c.2211T>A (n.2211T>A) c.2501T>A c.6789T>A (p.Ala2263=) n.3028T>A c.2727T>A (p.Ala909=) n.251T>A c.4340T>A n.3725T>A c.5841T>A (p.Ala1947=) n.485-8590A>T c.3960T>A (p.Ala1320=) c.3306T>A (p.Ala1102=) | |
12 | g.40363417T>C | CA479247164 | LRRK2 | c.7044T>C (p.Ala2348=) c.841T>C c.*5953T>C (n.*5953T>C) c.2818T>C c.834T>C c.2489T>C (n.2489T>C) c.4131T>C c.2211T>C (n.2211T>C) c.2501T>C c.6789T>C (p.Ala2263=) n.3028T>C c.2727T>C (p.Ala909=) n.251T>C c.4340T>C n.3725T>C c.5841T>C (p.Ala1947=) n.485-8590A>G c.3960T>C (p.Ala1320=) c.3306T>C (p.Ala1102=) | |
12 | g.40363417T>G | CA479247159 | LRRK2 | c.7044T>G (p.Ala2348=) c.841T>G c.*5953T>G (n.*5953T>G) c.2818T>G c.834T>G c.2489T>G (n.2489T>G) c.4131T>G c.2211T>G (n.2211T>G) c.2501T>G c.6789T>G (p.Ala2263=) n.3028T>G c.2727T>G (p.Ala909=) n.251T>G c.4340T>G n.3725T>G c.5841T>G (p.Ala1947=) n.485-8590A>C c.3960T>G (p.Ala1320=) c.3306T>G (p.Ala1102=) | |
12 | g.40363418T>A | CA384413101 | LRRK2 | c.7045T>A (p.Phe2349Ile) c.842T>A c.*5954T>A (n.*5954T>A) c.2819T>A c.835T>A c.2490T>A (n.2490T>A) c.4132T>A c.2212T>A (n.2212T>A) c.2502T>A c.6790T>A (p.Phe2264Ile) n.3029T>A c.2728T>A (p.Phe910Ile) n.252T>A c.4341T>A n.3726T>A c.5842T>A (p.Phe1948Ile) n.485-8591A>T c.3961T>A (p.Phe1321Ile) c.3307T>A (p.Phe1103Ile) | |
12 | g.40363418T>C | CA384413104 | LRRK2 | c.7045T>C (p.Phe2349Leu) c.842T>C c.*5954T>C (n.*5954T>C) c.2819T>C c.835T>C c.2490T>C (n.2490T>C) c.4132T>C c.2212T>C (n.2212T>C) c.2502T>C c.6790T>C (p.Phe2264Leu) n.3029T>C c.2728T>C (p.Phe910Leu) n.252T>C c.4341T>C n.3726T>C c.5842T>C (p.Phe1948Leu) n.485-8591A>G c.3961T>C (p.Phe1321Leu) c.3307T>C (p.Phe1103Leu) | |
12 | g.40363418T>G | CA384413107 | LRRK2 | c.7045T>G (p.Phe2349Val) c.842T>G c.*5954T>G (n.*5954T>G) c.2819T>G c.835T>G c.2490T>G (n.2490T>G) c.4132T>G c.2212T>G (n.2212T>G) c.2502T>G c.6790T>G (p.Phe2264Val) n.3029T>G c.2728T>G (p.Phe910Val) n.252T>G c.4341T>G n.3726T>G c.5842T>G (p.Phe1948Val) n.485-8591A>C c.3961T>G (p.Phe1321Val) c.3307T>G (p.Phe1103Val) | |
12 | g.40363419T>A | CA384413111 | LRRK2 | c.7046T>A (p.Phe2349Tyr) c.843T>A c.*5955T>A (n.*5955T>A) c.2820T>A c.836T>A c.2491T>A (n.2491T>A) c.4133T>A c.2213T>A (n.2213T>A) c.2503T>A c.6791T>A (p.Phe2264Tyr) n.3030T>A c.2729T>A (p.Phe910Tyr) n.253T>A c.4342T>A n.3727T>A c.5843T>A (p.Phe1948Tyr) n.485-8592A>T c.3962T>A (p.Phe1321Tyr) c.3308T>A (p.Phe1103Tyr) | ClinVar gnomAD v4 |
12 | g.40363419T>C | CA384413112 | LRRK2 | c.7046T>C (p.Phe2349Ser) c.843T>C c.*5955T>C (n.*5955T>C) c.2820T>C c.836T>C c.2491T>C (n.2491T>C) c.4133T>C c.2213T>C (n.2213T>C) c.2503T>C c.6791T>C (p.Phe2264Ser) n.3030T>C c.2729T>C (p.Phe910Ser) n.253T>C c.4342T>C n.3727T>C c.5843T>C (p.Phe1948Ser) n.485-8592A>G c.3962T>C (p.Phe1321Ser) c.3308T>C (p.Phe1103Ser) | |
12 | g.40363419T>G | CA384413114 | LRRK2 | c.7046T>G (p.Phe2349Cys) c.843T>G c.*5955T>G (n.*5955T>G) c.2820T>G c.836T>G c.2491T>G (n.2491T>G) c.4133T>G c.2213T>G (n.2213T>G) c.2503T>G c.6791T>G (p.Phe2264Cys) n.3030T>G c.2729T>G (p.Phe910Cys) n.253T>G c.4342T>G n.3727T>G c.5843T>G (p.Phe1948Cys) n.485-8592A>C c.3962T>G (p.Phe1321Cys) c.3308T>G (p.Phe1103Cys) | |
12 | g.40363420C>A | CA384413118 | LRRK2 | c.7047C>A (p.Phe2349Leu) c.844C>A c.*5956C>A (n.*5956C>A) c.2821C>A c.837C>A c.2492C>A (n.2492C>A) c.4134C>A c.2214C>A (n.2214C>A) c.2504C>A c.6792C>A (p.Phe2264Leu) n.3031C>A c.2730C>A (p.Phe910Leu) n.254C>A c.4343C>A n.3728C>A c.5844C>A (p.Phe1948Leu) n.485-8593G>T c.3963C>A (p.Phe1321Leu) c.3309C>A (p.Phe1103Leu) | |
12 | g.40363420C>G | CA384413119 | LRRK2 | c.7047C>G (p.Phe2349Leu) c.844C>G c.*5956C>G (n.*5956C>G) c.2821C>G c.837C>G c.2492C>G (n.2492C>G) c.4134C>G c.2214C>G (n.2214C>G) c.2504C>G c.6792C>G (p.Phe2264Leu) n.3031C>G c.2730C>G (p.Phe910Leu) n.254C>G c.4343C>G n.3728C>G c.5844C>G (p.Phe1948Leu) n.485-8593G>C c.3963C>G (p.Phe1321Leu) c.3309C>G (p.Phe1103Leu) | |
12 | g.40363420C>T | CA479247173 | LRRK2 | c.7047C>T (p.Phe2349=) c.844C>T c.*5956C>T (n.*5956C>T) c.2821C>T c.837C>T c.2492C>T (n.2492C>T) c.4134C>T c.2214C>T (n.2214C>T) c.2504C>T c.6792C>T (p.Phe2264=) n.3031C>T c.2730C>T (p.Phe910=) n.254C>T c.4343C>T n.3728C>T c.5844C>T (p.Phe1948=) n.485-8593G>A c.3963C>T (p.Phe1321=) c.3309C>T (p.Phe1103=) | |
12 | g.40363421A>C | CA384413122 | LRRK2 | c.7048A>C (p.Ser2350Arg) c.845A>C c.*5957A>C (n.*5957A>C) c.2822A>C c.838A>C c.2493A>C (n.2493A>C) c.4135A>C c.2215A>C (n.2215A>C) c.2505A>C c.6793A>C (p.Ser2265Arg) n.3032A>C c.2731A>C (p.Ser911Arg) n.255A>C c.4344A>C n.3729A>C c.5845A>C (p.Ser1949Arg) n.485-8594T>G c.3964A>C (p.Ser1322Arg) c.3310A>C (p.Ser1104Arg) | |
12 | g.40363421A>G | CA384413123 | LRRK2 | c.7048A>G (p.Ser2350Gly) c.845A>G c.*5957A>G (n.*5957A>G) c.2822A>G c.838A>G c.2493A>G (n.2493A>G) c.4135A>G c.2215A>G (n.2215A>G) c.2505A>G c.6793A>G (p.Ser2265Gly) n.3032A>G c.2731A>G (p.Ser911Gly) n.255A>G c.4344A>G n.3729A>G c.5845A>G (p.Ser1949Gly) n.485-8594T>C c.3964A>G (p.Ser1322Gly) c.3310A>G (p.Ser1104Gly) | gnomAD v4 |
12 | g.40363421A>T | CA384413125 | LRRK2 | c.7048A>T (p.Ser2350Cys) c.845A>T c.*5957A>T (n.*5957A>T) c.2822A>T c.838A>T c.2493A>T (n.2493A>T) c.4135A>T c.2215A>T (n.2215A>T) c.2505A>T c.6793A>T (p.Ser2265Cys) n.3032A>T c.2731A>T (p.Ser911Cys) n.255A>T c.4344A>T n.3729A>T c.5845A>T (p.Ser1949Cys) n.485-8594T>A c.3964A>T (p.Ser1322Cys) c.3310A>T (p.Ser1104Cys) | |
12 | g.40363422G>A | CA384413128 | LRRK2 | c.7049G>A (p.Ser2350Asn) c.846G>A c.*5958G>A (n.*5958G>A) c.2823G>A c.839G>A c.2494G>A (n.2494G>A) c.4136G>A c.2216G>A (n.2216G>A) c.2506G>A c.6794G>A (p.Ser2265Asn) n.3033G>A c.2732G>A (p.Ser911Asn) n.256G>A c.4345G>A n.3730G>A c.5846G>A (p.Ser1949Asn) n.485-8595C>T c.3965G>A (p.Ser1322Asn) c.3311G>A (p.Ser1104Asn) | |
12 | g.40363422G>C | CA235359547 | LRRK2 | c.7049G>C (p.Ser2350Thr) c.846G>C c.*5958G>C (n.*5958G>C) c.2823G>C c.839G>C c.2494G>C (n.2494G>C) c.4136G>C c.2216G>C (n.2216G>C) c.2506G>C c.6794G>C (p.Ser2265Thr) n.3033G>C c.2732G>C (p.Ser911Thr) n.256G>C c.4345G>C n.3730G>C c.5846G>C (p.Ser1949Thr) n.485-8595C>G c.3965G>C (p.Ser1322Thr) c.3311G>C (p.Ser1104Thr) | dbSNP gnomAD v4 |
12 | g.40363422G= | CA2031025766 | LRRK2 | c.7049G= (p.Ser2350=) c.846G= c.*5958G= (n.*5958G=) c.2823G= c.839G= c.2494G= (n.2494G=) c.4136G= c.2216G= (n.2216G=) c.2506G= c.6794G= (p.Ser2265=) n.3033G= c.2732G= (p.Ser911=) n.256G= c.4345G= n.3730G= c.5846G= (p.Ser1949=) n.485-8595C= c.3965G= (p.Ser1322=) c.3311G= (p.Ser1104=) | |
12 | g.40363422G>T | CA384413132 | LRRK2 | c.7049G>T (p.Ser2350Ile) c.846G>T c.*5958G>T (n.*5958G>T) c.2823G>T c.839G>T c.2494G>T (n.2494G>T) c.4136G>T c.2216G>T (n.2216G>T) c.2506G>T c.6794G>T (p.Ser2265Ile) n.3033G>T c.2732G>T (p.Ser911Ile) n.256G>T c.4345G>T n.3730G>T c.5846G>T (p.Ser1949Ile) n.485-8595C>A c.3965G>T (p.Ser1322Ile) c.3311G>T (p.Ser1104Ile) | |
12 | g.40363423T>A | CA384413134 | LRRK2 | c.7050T>A (p.Ser2350Arg) c.847T>A c.*5959T>A (n.*5959T>A) c.2824T>A c.840T>A c.2495T>A (n.2495T>A) c.4137T>A c.2217T>A (n.2217T>A) c.2507T>A c.6795T>A (p.Ser2265Arg) n.3034T>A c.2733T>A (p.Ser911Arg) n.257T>A c.4346T>A n.3731T>A c.5847T>A (p.Ser1949Arg) n.485-8596A>T c.3966T>A (p.Ser1322Arg) c.3312T>A (p.Ser1104Arg) | |
12 | g.40363423T>C | CA479247184 | LRRK2 | c.7050T>C (p.Ser2350=) c.847T>C c.*5959T>C (n.*5959T>C) c.2824T>C c.840T>C c.2495T>C (n.2495T>C) c.4137T>C c.2217T>C (n.2217T>C) c.2507T>C c.6795T>C (p.Ser2265=) n.3034T>C c.2733T>C (p.Ser911=) n.257T>C c.4346T>C n.3731T>C c.5847T>C (p.Ser1949=) n.485-8596A>G c.3966T>C (p.Ser1322=) c.3312T>C (p.Ser1104=) | |
12 | g.40363423T>G | CA384413136 | LRRK2 | c.7050T>G (p.Ser2350Arg) c.847T>G c.*5959T>G (n.*5959T>G) c.2824T>G c.840T>G c.2495T>G (n.2495T>G) c.4137T>G c.2217T>G (n.2217T>G) c.2507T>G c.6795T>G (p.Ser2265Arg) n.3034T>G c.2733T>G (p.Ser911Arg) n.257T>G c.4346T>G n.3731T>G c.5847T>G (p.Ser1949Arg) n.485-8596A>C c.3966T>G (p.Ser1322Arg) c.3312T>G (p.Ser1104Arg) | |
12 | g.40363424G>A | CA384413139 | LRRK2 | c.7051G>A (p.Asp2351Asn) c.848G>A c.*5960G>A (n.*5960G>A) c.2825G>A c.841G>A c.2496G>A (n.2496G>A) c.4138G>A c.2218G>A (n.2218G>A) c.2508G>A c.6796G>A (p.Asp2266Asn) n.3035G>A c.2734G>A (p.Asp912Asn) n.258G>A c.4347G>A n.3732G>A c.5848G>A (p.Asp1950Asn) n.485-8597C>T c.3967G>A (p.Asp1323Asn) c.3313G>A (p.Asp1105Asn) | |
12 | g.40363424G>C | CA384413141 | LRRK2 | c.7051G>C (p.Asp2351His) c.848G>C c.*5960G>C (n.*5960G>C) c.2825G>C c.841G>C c.2496G>C (n.2496G>C) c.4138G>C c.2218G>C (n.2218G>C) c.2508G>C c.6796G>C (p.Asp2266His) n.3035G>C c.2734G>C (p.Asp912His) n.258G>C c.4347G>C n.3732G>C c.5848G>C (p.Asp1950His) n.485-8597C>G c.3967G>C (p.Asp1323His) c.3313G>C (p.Asp1105His) | |
12 | g.40363424G>T | CA384413143 | LRRK2 | c.7051G>T (p.Asp2351Tyr) c.848G>T c.*5960G>T (n.*5960G>T) c.2825G>T c.841G>T c.2496G>T (n.2496G>T) c.4138G>T c.2218G>T (n.2218G>T) c.2508G>T c.6796G>T (p.Asp2266Tyr) n.3035G>T c.2734G>T (p.Asp912Tyr) n.258G>T c.4347G>T n.3732G>T c.5848G>T (p.Asp1950Tyr) n.485-8597C>A c.3967G>T (p.Asp1323Tyr) c.3313G>T (p.Asp1105Tyr) | |
12 | g.40363425A>C | CA384413147 | LRRK2 | c.7052A>C (p.Asp2351Ala) c.849A>C c.*5961A>C (n.*5961A>C) c.2826A>C c.842A>C c.2497A>C (n.2497A>C) c.4139A>C c.2219A>C (n.2219A>C) c.2509A>C c.6797A>C (p.Asp2266Ala) n.3036A>C c.2735A>C (p.Asp912Ala) n.259A>C c.4348A>C n.3733A>C c.5849A>C (p.Asp1950Ala) n.485-8598T>G c.3968A>C (p.Asp1323Ala) c.3314A>C (p.Asp1105Ala) | |
12 | g.40363425A>G | CA384413150 | LRRK2 | c.7052A>G (p.Asp2351Gly) c.849A>G c.*5961A>G (n.*5961A>G) c.2826A>G c.842A>G c.2497A>G (n.2497A>G) c.4139A>G c.2219A>G (n.2219A>G) c.2509A>G c.6797A>G (p.Asp2266Gly) n.3036A>G c.2735A>G (p.Asp912Gly) n.259A>G c.4348A>G n.3733A>G c.5849A>G (p.Asp1950Gly) n.485-8598T>C c.3968A>G (p.Asp1323Gly) c.3314A>G (p.Asp1105Gly) | ClinVar |
12 | g.40363425A>T | CA384413153 | LRRK2 | c.7052A>T (p.Asp2351Val) c.849A>T c.*5961A>T (n.*5961A>T) c.2826A>T c.842A>T c.2497A>T (n.2497A>T) c.4139A>T c.2219A>T (n.2219A>T) c.2509A>T c.6797A>T (p.Asp2266Val) n.3036A>T c.2735A>T (p.Asp912Val) n.259A>T c.4348A>T n.3733A>T c.5849A>T (p.Asp1950Val) n.485-8598T>A c.3968A>T (p.Asp1323Val) c.3314A>T (p.Asp1105Val) | gnomAD v4 |
12 | g.40363426T>A | CA384413156 | LRRK2 | c.7053T>A (p.Asp2351Glu) c.850T>A c.*5962T>A (n.*5962T>A) c.2827T>A c.843T>A c.2498T>A (n.2498T>A) c.4140T>A c.2220T>A (n.2220T>A) c.2510T>A c.6798T>A (p.Asp2266Glu) n.3037T>A c.2736T>A (p.Asp912Glu) n.260T>A c.4349T>A n.3734T>A c.5850T>A (p.Asp1950Glu) n.485-8599A>T c.3969T>A (p.Asp1323Glu) c.3315T>A (p.Asp1105Glu) | |
12 | g.40363426T>C | CA6514841 | LRRK2 | c.7053T>C (p.Asp2351=) c.850T>C c.*5962T>C (n.*5962T>C) c.2827T>C c.843T>C c.2498T>C (n.2498T>C) c.4140T>C c.2220T>C (n.2220T>C) c.2510T>C c.6798T>C (p.Asp2266=) n.3037T>C c.2736T>C (p.Asp912=) n.260T>C c.4349T>C n.3734T>C c.5850T>C (p.Asp1950=) n.485-8599A>G c.3969T>C (p.Asp1323=) c.3315T>C (p.Asp1105=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.40363426T>G | CA384413161 | LRRK2 | c.7053T>G (p.Asp2351Glu) c.850T>G c.*5962T>G (n.*5962T>G) c.2827T>G c.843T>G c.2498T>G (n.2498T>G) c.4140T>G c.2220T>G (n.2220T>G) c.2510T>G c.6798T>G (p.Asp2266Glu) n.3037T>G c.2736T>G (p.Asp912Glu) n.260T>G c.4349T>G n.3734T>G c.5850T>G (p.Asp1950Glu) n.485-8599A>C c.3969T>G (p.Asp1323Glu) c.3315T>G (p.Asp1105Glu) | |
12 | g.40363426T= | CA2031025767 | LRRK2 | c.7053T= (p.Asp2351=) c.850T= c.*5962T= (n.*5962T=) c.2827T= c.843T= c.2498T= (n.2498T=) c.4140T= c.2220T= (n.2220T=) c.2510T= c.6798T= (p.Asp2266=) n.3037T= c.2736T= (p.Asp912=) n.260T= c.4349T= n.3734T= c.5850T= (p.Asp1950=) n.485-8599A= c.3969T= (p.Asp1323=) c.3315T= (p.Asp1105=) | |
12 | g.40363427T>A | CA384413163 | LRRK2 | c.7054T>A (p.Ser2352Thr) c.851T>A c.*5963T>A (n.*5963T>A) c.2828T>A c.844T>A c.2499T>A (n.2499T>A) c.4141T>A c.2221T>A (n.2221T>A) c.2511T>A c.6799T>A (p.Ser2267Thr) n.3038T>A c.2737T>A (p.Ser913Thr) n.261T>A c.4350T>A n.3735T>A c.5851T>A (p.Ser1951Thr) n.485-8600A>T c.3970T>A (p.Ser1324Thr) c.3316T>A (p.Ser1106Thr) | |
12 | g.40363427T>C | CA384413166 | LRRK2 | c.7054T>C (p.Ser2352Pro) c.851T>C c.*5963T>C (n.*5963T>C) c.2828T>C c.844T>C c.2499T>C (n.2499T>C) c.4141T>C c.2221T>C (n.2221T>C) c.2511T>C c.6799T>C (p.Ser2267Pro) n.3038T>C c.2737T>C (p.Ser913Pro) n.261T>C c.4350T>C n.3735T>C c.5851T>C (p.Ser1951Pro) n.485-8600A>G c.3970T>C (p.Ser1324Pro) c.3316T>C (p.Ser1106Pro) | |
12 | g.40363427T>G | CA384413167 | LRRK2 | c.7054T>G (p.Ser2352Ala) c.851T>G c.*5963T>G (n.*5963T>G) c.2828T>G c.844T>G c.2499T>G (n.2499T>G) c.4141T>G c.2221T>G (n.2221T>G) c.2511T>G c.6799T>G (p.Ser2267Ala) n.3038T>G c.2737T>G (p.Ser913Ala) n.261T>G c.4350T>G n.3735T>G c.5851T>G (p.Ser1951Ala) n.485-8600A>C c.3970T>G (p.Ser1324Ala) c.3316T>G (p.Ser1106Ala) | |
12 | g.40363428C>A | CA384413174 | LRRK2 | c.7055C>A (p.Ser2352Tyr) c.852C>A c.*5964C>A (n.*5964C>A) c.2829C>A c.845C>A c.2500C>A (n.2500C>A) c.4142C>A c.2222C>A (n.2222C>A) c.2512C>A c.6800C>A (p.Ser2267Tyr) n.3039C>A c.2738C>A (p.Ser913Tyr) n.262C>A c.4351C>A n.3736C>A c.5852C>A (p.Ser1951Tyr) n.485-8601G>T c.3971C>A (p.Ser1324Tyr) c.3317C>A (p.Ser1106Tyr) | |
12 | g.40363428C>G | CA384413170 | LRRK2 | c.7055C>G (p.Ser2352Cys) c.852C>G c.*5964C>G (n.*5964C>G) c.2829C>G c.845C>G c.2500C>G (n.2500C>G) c.4142C>G c.2222C>G (n.2222C>G) c.2512C>G c.6800C>G (p.Ser2267Cys) n.3039C>G c.2738C>G (p.Ser913Cys) n.262C>G c.4351C>G n.3736C>G c.5852C>G (p.Ser1951Cys) n.485-8601G>C c.3971C>G (p.Ser1324Cys) c.3317C>G (p.Ser1106Cys) | |
12 | g.40363428C>T | CA384413172 | LRRK2 | c.7055C>T (p.Ser2352Phe) c.852C>T c.*5964C>T (n.*5964C>T) c.2829C>T c.845C>T c.2500C>T (n.2500C>T) c.4142C>T c.2222C>T (n.2222C>T) c.2512C>T c.6800C>T (p.Ser2267Phe) n.3039C>T c.2738C>T (p.Ser913Phe) n.262C>T c.4351C>T n.3736C>T c.5852C>T (p.Ser1951Phe) n.485-8601G>A c.3971C>T (p.Ser1324Phe) c.3317C>T (p.Ser1106Phe) | ClinVar |
12 | g.40363429C>A | CA479247215 | LRRK2 | c.7056C>A (p.Ser2352=) c.853C>A c.*5965C>A (n.*5965C>A) c.2830C>A c.846C>A c.2501C>A (n.2501C>A) c.4143C>A c.2223C>A (n.2223C>A) c.2513C>A c.6801C>A (p.Ser2267=) n.3040C>A c.2739C>A (p.Ser913=) n.263C>A c.4352C>A n.3737C>A c.5853C>A (p.Ser1951=) n.485-8602G>T c.3972C>A (p.Ser1324=) c.3318C>A (p.Ser1106=) | |
12 | g.40363429C>G | CA479247217 | LRRK2 | c.7056C>G (p.Ser2352=) c.853C>G c.*5965C>G (n.*5965C>G) c.2830C>G c.846C>G c.2501C>G (n.2501C>G) c.4143C>G c.2223C>G (n.2223C>G) c.2513C>G c.6801C>G (p.Ser2267=) n.3040C>G c.2739C>G (p.Ser913=) n.263C>G c.4352C>G n.3737C>G c.5853C>G (p.Ser1951=) n.485-8602G>C c.3972C>G (p.Ser1324=) c.3318C>G (p.Ser1106=) | |
12 | g.40363429C>T | CA479247219 | LRRK2 | c.7056C>T (p.Ser2352=) c.853C>T c.*5965C>T (n.*5965C>T) c.2830C>T c.846C>T c.2501C>T (n.2501C>T) c.4143C>T c.2223C>T (n.2223C>T) c.2513C>T c.6801C>T (p.Ser2267=) n.3040C>T c.2739C>T (p.Ser913=) n.263C>T c.4352C>T n.3737C>T c.5853C>T (p.Ser1951=) n.485-8602G>A c.3972C>T (p.Ser1324=) c.3318C>T (p.Ser1106=) | |
12 | g.40363430A>C | CA384413176 | LRRK2 | c.7057A>C (p.Asn2353His) c.854A>C c.*5966A>C (n.*5966A>C) c.2831A>C c.847A>C c.2502A>C (n.2502A>C) c.4144A>C c.2224A>C (n.2224A>C) c.2514A>C c.6802A>C (p.Asn2268His) n.3041A>C c.2740A>C (p.Asn914His) n.264A>C c.4353A>C n.3738A>C c.5854A>C (p.Asn1952His) n.485-8603T>G c.3973A>C (p.Asn1325His) c.3319A>C (p.Asn1107His) | |
12 | g.40363430A>G | CA384413182 | LRRK2 | c.7057A>G (p.Asn2353Asp) c.854A>G c.*5966A>G (n.*5966A>G) c.2831A>G c.847A>G c.2502A>G (n.2502A>G) c.4144A>G c.2224A>G (n.2224A>G) c.2514A>G c.6802A>G (p.Asn2268Asp) n.3041A>G c.2740A>G (p.Asn914Asp) n.264A>G c.4353A>G n.3738A>G c.5854A>G (p.Asn1952Asp) n.485-8603T>C c.3973A>G (p.Asn1325Asp) c.3319A>G (p.Asn1107Asp) | |
12 | g.40363430A>T | CA384413179 | LRRK2 | c.7057A>T (p.Asn2353Tyr) c.854A>T c.*5966A>T (n.*5966A>T) c.2831A>T c.847A>T c.2502A>T (n.2502A>T) c.4144A>T c.2224A>T (n.2224A>T) c.2514A>T c.6802A>T (p.Asn2268Tyr) n.3041A>T c.2740A>T (p.Asn914Tyr) n.264A>T c.4353A>T n.3738A>T c.5854A>T (p.Asn1952Tyr) n.485-8603T>A c.3973A>T (p.Asn1325Tyr) c.3319A>T (p.Asn1107Tyr) | |
12 | g.40363431A>C | CA384413183 | LRRK2 | c.7058A>C (p.Asn2353Thr) c.855A>C c.*5967A>C (n.*5967A>C) c.2832A>C c.848A>C c.2503A>C (n.2503A>C) c.4145A>C c.2225A>C (n.2225A>C) c.2515A>C c.6803A>C (p.Asn2268Thr) n.3042A>C c.2741A>C (p.Asn914Thr) n.265A>C c.4354A>C n.3739A>C c.5855A>C (p.Asn1952Thr) n.485-8604T>G c.3974A>C (p.Asn1325Thr) c.3320A>C (p.Asn1107Thr) | |
12 | g.40363431A>G | CA384413185 | LRRK2 | c.7058A>G (p.Asn2353Ser) c.855A>G c.*5967A>G (n.*5967A>G) c.2832A>G c.848A>G c.2503A>G (n.2503A>G) c.4145A>G c.2225A>G (n.2225A>G) c.2515A>G c.6803A>G (p.Asn2268Ser) n.3042A>G c.2741A>G (p.Asn914Ser) n.265A>G c.4354A>G n.3739A>G c.5855A>G (p.Asn1952Ser) n.485-8604T>C c.3974A>G (p.Asn1325Ser) c.3320A>G (p.Asn1107Ser) | |
12 | g.40363431A>T | CA384413186 | LRRK2 | c.7058A>T (p.Asn2353Ile) c.855A>T c.*5967A>T (n.*5967A>T) c.2832A>T c.848A>T c.2503A>T (n.2503A>T) c.4145A>T c.2225A>T (n.2225A>T) c.2515A>T c.6803A>T (p.Asn2268Ile) n.3042A>T c.2741A>T (p.Asn914Ile) n.265A>T c.4354A>T n.3739A>T c.5855A>T (p.Asn1952Ile) n.485-8604T>A c.3974A>T (p.Asn1325Ile) c.3320A>T (p.Asn1107Ile) | |
12 | g.40363432C>A | CA384413188 | LRRK2 | c.7059C>A (p.Asn2353Lys) c.856C>A c.*5968C>A (n.*5968C>A) c.2833C>A c.849C>A c.2504C>A (n.2504C>A) c.4146C>A c.2226C>A (n.2226C>A) c.2516C>A c.6804C>A (p.Asn2268Lys) n.3043C>A c.2742C>A (p.Asn914Lys) n.266C>A c.4355C>A n.3740C>A c.5856C>A (p.Asn1952Lys) n.485-8605G>T c.3975C>A (p.Asn1325Lys) c.3321C>A (p.Asn1107Lys) | |
12 | g.40363432C= | CA2031025771 | LRRK2 | c.7059C= (p.Asn2353=) c.856C= c.*5968C= (n.*5968C=) c.2833C= c.849C= c.2504C= (n.2504C=) c.4146C= c.2226C= (n.2226C=) c.2516C= c.6804C= (p.Asn2268=) n.3043C= c.2742C= (p.Asn914=) n.266C= c.4355C= n.3740C= c.5856C= (p.Asn1952=) n.485-8605G= c.3975C= (p.Asn1325=) c.3321C= (p.Asn1107=) | |
12 | g.40363432C>G | CA384413191 | LRRK2 | c.7059C>G (p.Asn2353Lys) c.856C>G c.*5968C>G (n.*5968C>G) c.2833C>G c.849C>G c.2504C>G (n.2504C>G) c.4146C>G c.2226C>G (n.2226C>G) c.2516C>G c.6804C>G (p.Asn2268Lys) n.3043C>G c.2742C>G (p.Asn914Lys) n.266C>G c.4355C>G n.3740C>G c.5856C>G (p.Asn1952Lys) n.485-8605G>C c.3975C>G (p.Asn1325Lys) c.3321C>G (p.Asn1107Lys) | |
12 | g.40363432C>T | CA6514842 | LRRK2 | c.7059C>T (p.Asn2353=) c.856C>T c.*5968C>T (n.*5968C>T) c.2833C>T c.849C>T c.2504C>T (n.2504C>T) c.4146C>T c.2226C>T (n.2226C>T) c.2516C>T c.6804C>T (p.Asn2268=) n.3043C>T c.2742C>T (p.Asn914=) n.266C>T c.4355C>T n.3740C>T c.5856C>T (p.Asn1952=) n.485-8605G>A c.3975C>T (p.Asn1325=) c.3321C>T (p.Asn1107=) | dbSNP ExAC gnomAD v2 |
12 | g.40363433A= | CA2031025774 | LRRK2 | c.7060A= (p.Ile2354=) c.857A= c.*5969A= (n.*5969A=) c.2834A= c.850A= c.2505A= (n.2505A=) c.4147A= c.2227A= (n.2227A=) c.2517A= c.6805A= (p.Ile2269=) n.3044A= c.2743A= (p.Ile915=) n.267A= c.4356A= n.3741A= c.5857A= (p.Ile1953=) n.485-8606T= c.3976A= (p.Ile1326=) c.3322A= (p.Ile1108=) | |
12 | g.40363433A>C | CA384413196 | LRRK2 | c.7060A>C (p.Ile2354Leu) c.857A>C c.*5969A>C (n.*5969A>C) c.2834A>C c.850A>C c.2505A>C (n.2505A>C) c.4147A>C c.2227A>C (n.2227A>C) c.2517A>C c.6805A>C (p.Ile2269Leu) n.3044A>C c.2743A>C (p.Ile915Leu) n.267A>C c.4356A>C n.3741A>C c.5857A>C (p.Ile1953Leu) n.485-8606T>G c.3976A>C (p.Ile1326Leu) c.3322A>C (p.Ile1108Leu) | |
12 | g.40363433A>G | CA384413198 | LRRK2 | c.7060A>G (p.Ile2354Val) c.857A>G c.*5969A>G (n.*5969A>G) c.2834A>G c.850A>G c.2505A>G (n.2505A>G) c.4147A>G c.2227A>G (n.2227A>G) c.2517A>G c.6805A>G (p.Ile2269Val) n.3044A>G c.2743A>G (p.Ile915Val) n.267A>G c.4356A>G n.3741A>G c.5857A>G (p.Ile1953Val) n.485-8606T>C c.3976A>G (p.Ile1326Val) c.3322A>G (p.Ile1108Val) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.40363433A>T | CA384413200 | LRRK2 | c.7060A>T (p.Ile2354Phe) c.857A>T c.*5969A>T (n.*5969A>T) c.2834A>T c.850A>T c.2505A>T (n.2505A>T) c.4147A>T c.2227A>T (n.2227A>T) c.2517A>T c.6805A>T (p.Ile2269Phe) n.3044A>T c.2743A>T (p.Ile915Phe) n.267A>T c.4356A>T n.3741A>T c.5857A>T (p.Ile1953Phe) n.485-8606T>A c.3976A>T (p.Ile1326Phe) c.3322A>T (p.Ile1108Phe) | |
12 | g.40363434T>A | CA384413204 | LRRK2 | c.7061T>A (p.Ile2354Asn) c.858T>A c.*5970T>A (n.*5970T>A) c.2835T>A c.851T>A c.2506T>A (n.2506T>A) c.4148T>A c.2228T>A (n.2228T>A) c.2518T>A c.6806T>A (p.Ile2269Asn) n.3045T>A c.2744T>A (p.Ile915Asn) n.268T>A c.4357T>A n.3742T>A c.5858T>A (p.Ile1953Asn) n.485-8607A>T c.3977T>A (p.Ile1326Asn) c.3323T>A (p.Ile1108Asn) | gnomAD v4 |
12 | g.40363434T>C | CA384413206 | LRRK2 | c.7061T>C (p.Ile2354Thr) c.858T>C c.*5970T>C (n.*5970T>C) c.2835T>C c.851T>C c.2506T>C (n.2506T>C) c.4148T>C c.2228T>C (n.2228T>C) c.2518T>C c.6806T>C (p.Ile2269Thr) n.3045T>C c.2744T>C (p.Ile915Thr) n.268T>C c.4357T>C n.3742T>C c.5858T>C (p.Ile1953Thr) n.485-8607A>G c.3977T>C (p.Ile1326Thr) c.3323T>C (p.Ile1108Thr) | |
12 | g.40363434T>G | CA384413209 | LRRK2 | c.7061T>G (p.Ile2354Ser) c.858T>G c.*5970T>G (n.*5970T>G) c.2835T>G c.851T>G c.2506T>G (n.2506T>G) c.4148T>G c.2228T>G (n.2228T>G) c.2518T>G c.6806T>G (p.Ile2269Ser) n.3045T>G c.2744T>G (p.Ile915Ser) n.268T>G c.4357T>G n.3742T>G c.5858T>G (p.Ile1953Ser) n.485-8607A>C c.3977T>G (p.Ile1326Ser) c.3323T>G (p.Ile1108Ser) | |
12 | g.40363435C>A | CA479247239 | LRRK2 | c.7062C>A (p.Ile2354=) c.859C>A c.*5971C>A (n.*5971C>A) c.2836C>A c.852C>A c.2507C>A (n.2507C>A) c.4149C>A c.2229C>A (n.2229C>A) c.2519C>A c.6807C>A (p.Ile2269=) n.3046C>A c.2745C>A (p.Ile915=) n.269C>A c.4358C>A n.3743C>A c.5859C>A (p.Ile1953=) n.485-8608G>T c.3978C>A (p.Ile1326=) c.3324C>A (p.Ile1108=) | gnomAD v4 |
12 | g.40363435C= | CA2031025778 | LRRK2 | c.7062C= (p.Ile2354=) c.859C= c.*5971C= (n.*5971C=) c.2836C= c.852C= c.2507C= (n.2507C=) c.4149C= c.2229C= (n.2229C=) c.2519C= c.6807C= (p.Ile2269=) n.3046C= c.2745C= (p.Ile915=) n.269C= c.4358C= n.3743C= c.5859C= (p.Ile1953=) n.485-8608G= c.3978C= (p.Ile1326=) c.3324C= (p.Ile1108=) | |
12 | g.40363435C>G | CA384413214 | LRRK2 | c.7062C>G (p.Ile2354Met) c.859C>G c.*5971C>G (n.*5971C>G) c.2836C>G c.852C>G c.2507C>G (n.2507C>G) c.4149C>G c.2229C>G (n.2229C>G) c.2519C>G c.6807C>G (p.Ile2269Met) n.3046C>G c.2745C>G (p.Ile915Met) n.269C>G c.4358C>G n.3743C>G c.5859C>G (p.Ile1953Met) n.485-8608G>C c.3978C>G (p.Ile1326Met) c.3324C>G (p.Ile1108Met) | |
12 | g.40363435C>T | CA6514843 | LRRK2 | c.7062C>T (p.Ile2354=) c.859C>T c.*5971C>T (n.*5971C>T) c.2836C>T c.852C>T c.2507C>T (n.2507C>T) c.4149C>T c.2229C>T (n.2229C>T) c.2519C>T c.6807C>T (p.Ile2269=) n.3046C>T c.2745C>T (p.Ile915=) n.269C>T c.4358C>T n.3743C>T c.5859C>T (p.Ile1953=) n.485-8608G>A c.3978C>T (p.Ile1326=) c.3324C>T (p.Ile1108=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.40363436A= | CA2031025783 | LRRK2 | c.7063A= (p.Ile2355=) c.860A= c.*5972A= (n.*5972A=) c.2837A= c.853A= c.2508A= (n.2508A=) c.4150A= c.2230A= (n.2230A=) c.2520A= c.6808A= (p.Ile2270=) n.3047A= c.2746A= (p.Ile916=) n.270A= c.4359A= n.3744A= c.5860A= (p.Ile1954=) n.485-8609T= c.3979A= (p.Ile1327=) c.3325A= (p.Ile1109=) | |
12 | g.40363436A>C | CA384413215 | LRRK2 | c.7063A>C (p.Ile2355Leu) c.860A>C c.*5972A>C (n.*5972A>C) c.2837A>C c.853A>C c.2508A>C (n.2508A>C) c.4150A>C c.2230A>C (n.2230A>C) c.2520A>C c.6808A>C (p.Ile2270Leu) n.3047A>C c.2746A>C (p.Ile916Leu) n.270A>C c.4359A>C n.3744A>C c.5860A>C (p.Ile1954Leu) n.485-8609T>G c.3979A>C (p.Ile1327Leu) c.3325A>C (p.Ile1109Leu) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.40363436A>G | CA6514844 | LRRK2 | c.7063A>G (p.Ile2355Val) c.860A>G c.*5972A>G (n.*5972A>G) c.2837A>G c.853A>G c.2508A>G (n.2508A>G) c.4150A>G c.2230A>G (n.2230A>G) c.2520A>G c.6808A>G (p.Ile2270Val) n.3047A>G c.2746A>G (p.Ile916Val) n.270A>G c.4359A>G n.3744A>G c.5860A>G (p.Ile1954Val) n.485-8609T>C c.3979A>G (p.Ile1327Val) c.3325A>G (p.Ile1109Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.40363436A>T | CA384413218 | LRRK2 | c.7063A>T (p.Ile2355Leu) c.860A>T c.*5972A>T (n.*5972A>T) c.2837A>T c.853A>T c.2508A>T (n.2508A>T) c.4150A>T c.2230A>T (n.2230A>T) c.2520A>T c.6808A>T (p.Ile2270Leu) n.3047A>T c.2746A>T (p.Ile916Leu) n.270A>T c.4359A>T n.3744A>T c.5860A>T (p.Ile1954Leu) n.485-8609T>A c.3979A>T (p.Ile1327Leu) c.3325A>T (p.Ile1109Leu) | |
12 | g.40363437T>A | CA384413222 | LRRK2 | c.7064T>A (p.Ile2355Lys) c.861T>A c.*5973T>A (n.*5973T>A) c.2838T>A c.854T>A c.2509T>A (n.2509T>A) c.4151T>A c.2231T>A (n.2231T>A) c.2521T>A c.6809T>A (p.Ile2270Lys) n.3048T>A c.2747T>A (p.Ile916Lys) n.271T>A c.4360T>A n.3745T>A c.5861T>A (p.Ile1954Lys) n.485-8610A>T c.3980T>A (p.Ile1327Lys) c.3326T>A (p.Ile1109Lys) | gnomAD v4 |
12 | g.40363437T>C | CA384413225 | LRRK2 | c.7064T>C (p.Ile2355Thr) c.861T>C c.*5973T>C (n.*5973T>C) c.2838T>C c.854T>C c.2509T>C (n.2509T>C) c.4151T>C c.2231T>C (n.2231T>C) c.2521T>C c.6809T>C (p.Ile2270Thr) n.3048T>C c.2747T>C (p.Ile916Thr) n.271T>C c.4360T>C n.3745T>C c.5861T>C (p.Ile1954Thr) n.485-8610A>G c.3980T>C (p.Ile1327Thr) c.3326T>C (p.Ile1109Thr) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.40363437T>G | CA384413227 | LRRK2 | c.7064T>G (p.Ile2355Arg) c.861T>G c.*5973T>G (n.*5973T>G) c.2838T>G c.854T>G c.2509T>G (n.2509T>G) c.4151T>G c.2231T>G (n.2231T>G) c.2521T>G c.6809T>G (p.Ile2270Arg) n.3048T>G c.2747T>G (p.Ile916Arg) n.271T>G c.4360T>G n.3745T>G c.5861T>G (p.Ile1954Arg) n.485-8610A>C c.3980T>G (p.Ile1327Arg) c.3326T>G (p.Ile1109Arg) | |
12 | g.40363437T= | CA2031025792 | LRRK2 | c.7064T= (p.Ile2355=) c.861T= c.*5973T= (n.*5973T=) c.2838T= c.854T= c.2509T= (n.2509T=) c.4151T= c.2231T= (n.2231T=) c.2521T= c.6809T= (p.Ile2270=) n.3048T= c.2747T= (p.Ile916=) n.271T= c.4360T= n.3745T= c.5861T= (p.Ile1954=) n.485-8610A= c.3980T= (p.Ile1327=) c.3326T= (p.Ile1109=) | |
12 | g.40363438A= | CA2031025799 | LRRK2 | c.7065A= (p.Ile2355=) c.862A= c.*5974A= (n.*5974A=) c.2839A= c.855A= c.2510A= (n.2510A=) c.4152A= c.2232A= (n.2232A=) c.2522A= c.6810A= (p.Ile2270=) n.3049A= c.2748A= (p.Ile916=) n.272A= c.4361A= n.3746A= c.5862A= (p.Ile1954=) n.485-8611T= c.3981A= (p.Ile1327=) c.3327A= (p.Ile1109=) | |
12 | g.40363438A>C | CA479247250 | LRRK2 | c.7065A>C (p.Ile2355=) c.862A>C c.*5974A>C (n.*5974A>C) c.2839A>C c.855A>C c.2510A>C (n.2510A>C) c.4152A>C c.2232A>C (n.2232A>C) c.2522A>C c.6810A>C (p.Ile2270=) n.3049A>C c.2748A>C (p.Ile916=) n.272A>C c.4361A>C n.3746A>C c.5862A>C (p.Ile1954=) n.485-8611T>G c.3981A>C (p.Ile1327=) c.3327A>C (p.Ile1109=) | |
12 | g.40363438A>G | CA384413230 | LRRK2 | c.7065A>G (p.Ile2355Met) c.862A>G c.*5974A>G (n.*5974A>G) c.2839A>G c.855A>G c.2510A>G (n.2510A>G) c.4152A>G c.2232A>G (n.2232A>G) c.2522A>G c.6810A>G (p.Ile2270Met) n.3049A>G c.2748A>G (p.Ile916Met) n.272A>G c.4361A>G n.3746A>G c.5862A>G (p.Ile1954Met) n.485-8611T>C c.3981A>G (p.Ile1327Met) c.3327A>G (p.Ile1109Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.40363438A>T | CA479247251 | LRRK2 | c.7065A>T (p.Ile2355=) c.862A>T c.*5974A>T (n.*5974A>T) c.2839A>T c.855A>T c.2510A>T (n.2510A>T) c.4152A>T c.2232A>T (n.2232A>T) c.2522A>T c.6810A>T (p.Ile2270=) n.3049A>T c.2748A>T (p.Ile916=) n.272A>T c.4361A>T n.3746A>T c.5862A>T (p.Ile1954=) n.485-8611T>A c.3981A>T (p.Ile1327=) c.3327A>T (p.Ile1109=) | |
12 | g.40363438_40363440delinsAAC | CA2031025800 | LRRK2 | c.7065_7067delinsAAC (p.Ile2355=) c.862_864delinsAAC c.*5974_*5976delinsAAC (n.*5974_*5976delinsAAC) c.2839_2841delinsAAC c.855_857delinsAAC c.2510_2512delinsAAC (n.2510_2512delinsAAC) c.4152_4154delinsAAC c.2232_2234delinsAAC (n.2232_2234delinsAAC) c.2522_2524delinsAAC c.6810_6812delinsAAC (p.Ile2270=) n.3049_3051delinsAAC c.2748_2750delinsAAC (p.Ile916=) n.272_274delinsAAC c.4361_4363delinsAAC n.3746_3748delinsAAC c.5862_5864delinsAAC (p.Ile1954=) n.485-8613_485-8611delinsGTT c.3981_3983delinsAAC (p.Ile1327=) c.3327_3329delinsAAC (p.Ile1109=) | |
12 | g.40363439A= | CA2031025806 | LRRK2 | c.7066A= (p.Thr2356=) c.863A= c.*5975A= (n.*5975A=) c.2840A= c.856A= c.2511A= (n.2511A=) c.4153A= c.2233A= (n.2233A=) c.2523A= c.6811A= (p.Thr2271=) n.3050A= c.2749A= (p.Thr917=) n.273A= c.4362A= n.3747A= c.5863A= (p.Thr1955=) n.485-8612T= c.3982A= (p.Thr1328=) c.3328A= (p.Thr1110=) | |
12 | g.40363439A>C | CA384413233 | LRRK2 | c.7066A>C (p.Thr2356Pro) c.863A>C c.*5975A>C (n.*5975A>C) c.2840A>C c.856A>C c.2511A>C (n.2511A>C) c.4153A>C c.2233A>C (n.2233A>C) c.2523A>C c.6811A>C (p.Thr2271Pro) n.3050A>C c.2749A>C (p.Thr917Pro) n.273A>C c.4362A>C n.3747A>C c.5863A>C (p.Thr1955Pro) n.485-8612T>G c.3982A>C (p.Thr1328Pro) c.3328A>C (p.Thr1110Pro) | |
12 | g.40363439A>G | CA384413236 | LRRK2 | c.7066A>G (p.Thr2356Ala) c.863A>G c.*5975A>G (n.*5975A>G) c.2840A>G c.856A>G c.2511A>G (n.2511A>G) c.4153A>G c.2233A>G (n.2233A>G) c.2523A>G c.6811A>G (p.Thr2271Ala) n.3050A>G c.2749A>G (p.Thr917Ala) n.273A>G c.4362A>G n.3747A>G c.5863A>G (p.Thr1955Ala) n.485-8612T>C c.3982A>G (p.Thr1328Ala) c.3328A>G (p.Thr1110Ala) | |
12 | g.40363439A>T | CA384413235 | LRRK2 | c.7066A>T (p.Thr2356Ser) c.863A>T c.*5975A>T (n.*5975A>T) c.2840A>T c.856A>T c.2511A>T (n.2511A>T) c.4153A>T c.2233A>T (n.2233A>T) c.2523A>T c.6811A>T (p.Thr2271Ser) n.3050A>T c.2749A>T (p.Thr917Ser) n.273A>T c.4362A>T n.3747A>T c.5863A>T (p.Thr1955Ser) n.485-8612T>A c.3982A>T (p.Thr1328Ser) c.3328A>T (p.Thr1110Ser) | |
12 | g.40363440_40363441del | CA919070288 | LRRK2 | c.7067_7068del (p.Thr2356SerfsTer11) c.864_865del c.*5976_*5977del (n.*5976_*5977del) c.2841_2842del c.857_858del c.2512_2513del (n.2512_2513del) c.4154_4155del c.2234_2235del (n.2234_2235del) c.2524_2525del c.6812_6813del (p.Thr2271SerfsTer11) n.3051_3052del c.2750_2751del (p.Thr917SerfsTer11) n.274_275del c.4363_4364del n.3748_3749del c.5864_5865del (p.Thr1955SerfsTer11) n.485-8613_485-8612del c.3983_3984del (p.Thr1328SerfsTer11) c.3329_3330del (p.Thr1110SerfsTer11) | dbSNP |
12 | g.40363439_40363440insAC | CA688734216 | LRRK2 | c.7066_7067insAC (p.Thr2356AsnfsTer5) c.863_864insAC c.*5975_*5976insAC (n.*5975_*5976insAC) c.2840_2841insAC c.856_857insAC c.2511_2512insAC (n.2511_2512insAC) c.4153_4154insAC c.2233_2234insAC (n.2233_2234insAC) c.2523_2524insAC c.6811_6812insAC (p.Thr2271AsnfsTer5) n.3050_3051insAC c.2749_2750insAC (p.Thr917AsnfsTer5) n.273_274insAC c.4362_4363insAC n.3747_3748insAC c.5863_5864insAC (p.Thr1955AsnfsTer5) n.485-8613_485-8612insGT c.3982_3983insAC (p.Thr1328AsnfsTer5) c.3328_3329insAC (p.Thr1110AsnfsTer5) | |
12 | g.40363439_40363440insGT | CA235359569 | LRRK2 | c.7066_7067insGT (p.Thr2356SerfsTer5) c.863_864insGT c.*5975_*5976insGT (n.*5975_*5976insGT) c.2840_2841insGT c.856_857insGT c.2511_2512insGT (n.2511_2512insGT) c.4153_4154insGT c.2233_2234insGT (n.2233_2234insGT) c.2523_2524insGT c.6811_6812insGT (p.Thr2271SerfsTer5) n.3050_3051insGT c.2749_2750insGT (p.Thr917SerfsTer5) n.273_274insGT c.4362_4363insGT n.3747_3748insGT c.5863_5864insGT (p.Thr1955SerfsTer5) n.485-8613_485-8612insAC c.3982_3983insGT (p.Thr1328SerfsTer5) c.3328_3329insGT (p.Thr1110SerfsTer5) | dbSNP |
12 | g.40363440C>A | CA384413238 | LRRK2 | c.7067C>A (p.Thr2356Lys) c.864C>A c.*5976C>A (n.*5976C>A) c.2841C>A c.857C>A c.2512C>A (n.2512C>A) c.4154C>A c.2234C>A (n.2234C>A) c.2524C>A c.6812C>A (p.Thr2271Lys) n.3051C>A c.2750C>A (p.Thr917Lys) n.274C>A c.4363C>A n.3748C>A c.5864C>A (p.Thr1955Lys) n.485-8613G>T c.3983C>A (p.Thr1328Lys) c.3329C>A (p.Thr1110Lys) | |
12 | g.40363440C= | CA2031025822 | LRRK2 | c.7067C= (p.Thr2356=) c.864C= c.*5976C= (n.*5976C=) c.2841C= c.857C= c.2512C= (n.2512C=) c.4154C= c.2234C= (n.2234C=) c.2524C= c.6812C= (p.Thr2271=) n.3051C= c.2750C= (p.Thr917=) n.274C= c.4363C= n.3748C= c.5864C= (p.Thr1955=) n.485-8613G= c.3983C= (p.Thr1328=) c.3329C= (p.Thr1110=) | |
12 | g.40363440C>G | CA384413239 | LRRK2 | c.7067C>G (p.Thr2356Arg) c.864C>G c.*5976C>G (n.*5976C>G) c.2841C>G c.857C>G c.2512C>G (n.2512C>G) c.4154C>G c.2234C>G (n.2234C>G) c.2524C>G c.6812C>G (p.Thr2271Arg) n.3051C>G c.2750C>G (p.Thr917Arg) n.274C>G c.4363C>G n.3748C>G c.5864C>G (p.Thr1955Arg) n.485-8613G>C c.3983C>G (p.Thr1328Arg) c.3329C>G (p.Thr1110Arg) | |
12 | g.40363440C>T | CA343673 | LRRK2 | c.7067C>T (p.Thr2356Ile) c.864C>T c.*5976C>T (n.*5976C>T) c.2841C>T c.857C>T c.2512C>T (n.2512C>T) c.4154C>T c.2234C>T (n.2234C>T) c.2524C>T c.6812C>T (p.Thr2271Ile) n.3051C>T c.2750C>T (p.Thr917Ile) n.274C>T c.4363C>T n.3748C>T c.5864C>T (p.Thr1955Ile) n.485-8613G>A c.3983C>T (p.Thr1328Ile) c.3329C>T (p.Thr1110Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.40363441A>C | CA479247258 | LRRK2 | c.7068A>C (p.Thr2356=) c.865A>C c.*5977A>C (n.*5977A>C) c.2842A>C c.858A>C c.2513A>C (n.2513A>C) c.4155A>C c.2235A>C (n.2235A>C) c.2525A>C c.6813A>C (p.Thr2271=) n.3052A>C c.2751A>C (p.Thr917=) n.275A>C c.4364A>C n.3749A>C c.5865A>C (p.Thr1955=) n.485-8614T>G c.3984A>C (p.Thr1328=) c.3330A>C (p.Thr1110=) | |
12 | g.40363441A>G | CA479247259 | LRRK2 | c.7068A>G (p.Thr2356=) c.865A>G c.*5977A>G (n.*5977A>G) c.2842A>G c.858A>G c.2513A>G (n.2513A>G) c.4155A>G c.2235A>G (n.2235A>G) c.2525A>G c.6813A>G (p.Thr2271=) n.3052A>G c.2751A>G (p.Thr917=) n.275A>G c.4364A>G n.3749A>G c.5865A>G (p.Thr1955=) n.485-8614T>C c.3984A>G (p.Thr1328=) c.3330A>G (p.Thr1110=) | |
12 | g.40363441A>T | CA479247260 | LRRK2 | c.7068A>T (p.Thr2356=) c.865A>T c.*5977A>T (n.*5977A>T) c.2842A>T c.858A>T c.2513A>T (n.2513A>T) c.4155A>T c.2235A>T (n.2235A>T) c.2525A>T c.6813A>T (p.Thr2271=) n.3052A>T c.2751A>T (p.Thr917=) n.275A>T c.4364A>T n.3749A>T c.5865A>T (p.Thr1955=) n.485-8614T>A c.3984A>T (p.Thr1328=) c.3330A>T (p.Thr1110=) | ClinVar |
12 | g.40363442G>A | CA6514845 | LRRK2 | c.7069G>A (p.Val2357Met) c.866G>A c.*5978G>A (n.*5978G>A) c.2843G>A c.859G>A c.2514G>A (n.2514G>A) c.4156G>A c.2236G>A (n.2236G>A) c.2526G>A c.6814G>A (p.Val2272Met) n.3053G>A c.2752G>A (p.Val918Met) n.276G>A c.4365G>A n.3750G>A c.5866G>A (p.Val1956Met) n.485-8615C>T c.3985G>A (p.Val1329Met) c.3331G>A (p.Val1111Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.40363442G>C | CA384413242 | LRRK2 | c.7069G>C (p.Val2357Leu) c.866G>C c.*5978G>C (n.*5978G>C) c.2843G>C c.859G>C c.2514G>C (n.2514G>C) c.4156G>C c.2236G>C (n.2236G>C) c.2526G>C c.6814G>C (p.Val2272Leu) n.3053G>C c.2752G>C (p.Val918Leu) n.276G>C c.4365G>C n.3750G>C c.5866G>C (p.Val1956Leu) n.485-8615C>G c.3985G>C (p.Val1329Leu) c.3331G>C (p.Val1111Leu) | ClinVar |
12 | g.40363442G= | CA2031025836 | LRRK2 | c.7069G= (p.Val2357=) c.866G= c.*5978G= (n.*5978G=) c.2843G= c.859G= c.2514G= (n.2514G=) c.4156G= c.2236G= (n.2236G=) c.2526G= c.6814G= (p.Val2272=) n.3053G= c.2752G= (p.Val918=) n.276G= c.4365G= n.3750G= c.5866G= (p.Val1956=) n.485-8615C= c.3985G= (p.Val1329=) c.3331G= (p.Val1111=) | |
12 | g.40363442G>T | CA384413241 | LRRK2 | c.7069G>T (p.Val2357Leu) c.866G>T c.*5978G>T (n.*5978G>T) c.2843G>T c.859G>T c.2514G>T (n.2514G>T) c.4156G>T c.2236G>T (n.2236G>T) c.2526G>T c.6814G>T (p.Val2272Leu) n.3053G>T c.2752G>T (p.Val918Leu) n.276G>T c.4365G>T n.3750G>T c.5866G>T (p.Val1956Leu) n.485-8615C>A c.3985G>T (p.Val1329Leu) c.3331G>T (p.Val1111Leu) | gnomAD v4 |
12 | g.40363443T>A | CA384413243 | LRRK2 | c.7070T>A (p.Val2357Glu) c.867T>A c.*5979T>A (n.*5979T>A) c.2844T>A c.860T>A c.2515T>A (n.2515T>A) c.4157T>A c.2237T>A (n.2237T>A) c.2527T>A c.6815T>A (p.Val2272Glu) n.3054T>A c.2753T>A (p.Val918Glu) n.277T>A c.4366T>A n.3751T>A c.5867T>A (p.Val1956Glu) n.485-8616A>T c.3986T>A (p.Val1329Glu) c.3332T>A (p.Val1111Glu) | |
12 | g.40363443T>C | CA6514846 | LRRK2 | c.7070T>C (p.Val2357Ala) c.867T>C c.*5979T>C (n.*5979T>C) c.2844T>C c.860T>C c.2515T>C (n.2515T>C) c.4157T>C c.2237T>C (n.2237T>C) c.2527T>C c.6815T>C (p.Val2272Ala) n.3054T>C c.2753T>C (p.Val918Ala) n.277T>C c.4366T>C n.3751T>C c.5867T>C (p.Val1956Ala) n.485-8616A>G c.3986T>C (p.Val1329Ala) c.3332T>C (p.Val1111Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.40363443T>G | CA384413245 | LRRK2 | c.7070T>G (p.Val2357Gly) c.867T>G c.*5979T>G (n.*5979T>G) c.2844T>G c.860T>G c.2515T>G (n.2515T>G) c.4157T>G c.2237T>G (n.2237T>G) c.2527T>G c.6815T>G (p.Val2272Gly) n.3054T>G c.2753T>G (p.Val918Gly) n.277T>G c.4366T>G n.3751T>G c.5867T>G (p.Val1956Gly) n.485-8616A>C c.3986T>G (p.Val1329Gly) c.3332T>G (p.Val1111Gly) | |
12 | g.40363443T= | CA2031025838 | LRRK2 | c.7070T= (p.Val2357=) c.867T= c.*5979T= (n.*5979T=) c.2844T= c.860T= c.2515T= (n.2515T=) c.4157T= c.2237T= (n.2237T=) c.2527T= c.6815T= (p.Val2272=) n.3054T= c.2753T= (p.Val918=) n.277T= c.4366T= n.3751T= c.5867T= (p.Val1956=) n.485-8616A= c.3986T= (p.Val1329=) c.3332T= (p.Val1111=) | |
12 | g.40363444G>A | CA479247269 | LRRK2 | c.7071G>A (p.Val2357=) c.868G>A c.*5980G>A (n.*5980G>A) c.2845G>A c.861G>A c.2516G>A (n.2516G>A) c.4158G>A c.2238G>A (n.2238G>A) c.2528G>A c.6816G>A (p.Val2272=) n.3055G>A c.2754G>A (p.Val918=) n.278G>A c.4367G>A n.3752G>A c.5868G>A (p.Val1956=) n.485-8617C>T c.3987G>A (p.Val1329=) c.3333G>A (p.Val1111=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.40363444G>C | CA479247270 | LRRK2 | c.7071G>C (p.Val2357=) c.868G>C c.*5980G>C (n.*5980G>C) c.2845G>C c.861G>C c.2516G>C (n.2516G>C) c.4158G>C c.2238G>C (n.2238G>C) c.2528G>C c.6816G>C (p.Val2272=) n.3055G>C c.2754G>C (p.Val918=) n.278G>C c.4367G>C n.3752G>C c.5868G>C (p.Val1956=) n.485-8617C>G c.3987G>C (p.Val1329=) c.3333G>C (p.Val1111=) | |
12 | g.40363444G= | CA2031025843 | LRRK2 | c.7071G= (p.Val2357=) c.868G= c.*5980G= (n.*5980G=) c.2845G= c.861G= c.2516G= (n.2516G=) c.4158G= c.2238G= (n.2238G=) c.2528G= c.6816G= (p.Val2272=) n.3055G= c.2754G= (p.Val918=) n.278G= c.4367G= n.3752G= c.5868G= (p.Val1956=) n.485-8617C= c.3987G= (p.Val1329=) c.3333G= (p.Val1111=) | |
12 | g.40363444G>T | CA235359608 | LRRK2 | c.7071G>T (p.Val2357=) c.868G>T c.*5980G>T (n.*5980G>T) c.2845G>T c.861G>T c.2516G>T (n.2516G>T) c.4158G>T c.2238G>T (n.2238G>T) c.2528G>T c.6816G>T (p.Val2272=) n.3055G>T c.2754G>T (p.Val918=) n.278G>T c.4367G>T n.3752G>T c.5868G>T (p.Val1956=) n.485-8617C>A c.3987G>T (p.Val1329=) c.3333G>T (p.Val1111=) | dbSNP |
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) | ClinVar |
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) | ClinVar 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) |