| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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=) |