WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |