Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.40298428G>A | CA479391268 | LRRK2 | c.3282G>A (p.Gln1094=) c.*2191G>A (n.*2191G>A) c.3027G>A (p.Gln1009=) c.326G>A c.2079G>A (p.Gln693=) c.198G>A (p.Gln66=) n.3524G>A | |
12 | g.40298428G>C | CA384414996 | LRRK2 | c.3282G>C (p.Gln1094His) c.*2191G>C (n.*2191G>C) c.3027G>C (p.Gln1009His) c.326G>C c.2079G>C (p.Gln693His) c.198G>C (p.Gln66His) n.3524G>C | dbSNP gnomAD v4 |
12 | g.40298428G= | CA2030982833 | LRRK2 | c.3282G= (p.Gln1094=) c.*2191G= (n.*2191G=) c.3027G= (p.Gln1009=) c.326G= c.2079G= (p.Gln693=) c.198G= (p.Gln66=) n.3524G= | |
12 | g.40298428G>T | CA384414998 | LRRK2 | c.3282G>T (p.Gln1094His) c.*2191G>T (n.*2191G>T) c.3027G>T (p.Gln1009His) c.326G>T c.2079G>T (p.Gln693His) c.198G>T (p.Gln66His) n.3524G>T | gnomAD v4 |
12 | g.40298429C>A | CA384415000 | LRRK2 | c.3283C>A (p.Leu1095Met) c.*2192C>A (n.*2192C>A) c.3028C>A (p.Leu1010Met) c.327C>A c.2080C>A (p.Leu694Met) c.199C>A (p.Leu67Met) n.3525C>A | |
12 | g.40298429C= | CA2030982834 | LRRK2 | c.3283C= (p.Leu1095=) c.*2192C= (n.*2192C=) c.3028C= (p.Leu1010=) c.327C= c.2080C= (p.Leu694=) c.199C= (p.Leu67=) n.3525C= | |
12 | g.40298429C>G | CA384415001 | LRRK2 | c.3283C>G (p.Leu1095Val) c.*2192C>G (n.*2192C>G) c.3028C>G (p.Leu1010Val) c.327C>G c.2080C>G (p.Leu694Val) c.199C>G (p.Leu67Val) n.3525C>G | |
12 | g.40298429C>T | CA235348755 | LRRK2 | c.3283C>T (p.Leu1095=) c.*2192C>T (n.*2192C>T) c.3028C>T (p.Leu1010=) c.327C>T c.2080C>T (p.Leu694=) c.199C>T (p.Leu67=) n.3525C>T | dbSNP gnomAD v4 |
12 | g.40298430T>A | CA384415005 | LRRK2 | c.3284T>A (p.Leu1095Gln) c.*2193T>A (n.*2193T>A) c.3029T>A (p.Leu1010Gln) c.328T>A c.2081T>A (p.Leu694Gln) c.200T>A (p.Leu67Gln) n.3526T>A | |
12 | g.40298430T>C | CA384415007 | LRRK2 | c.3284T>C (p.Leu1095Pro) c.*2193T>C (n.*2193T>C) c.3029T>C (p.Leu1010Pro) c.328T>C c.2081T>C (p.Leu694Pro) c.200T>C (p.Leu67Pro) n.3526T>C | dbSNP |
12 | g.40298430T>G | CA384415003 | LRRK2 | c.3284T>G (p.Leu1095Arg) c.*2193T>G (n.*2193T>G) c.3029T>G (p.Leu1010Arg) c.328T>G c.2081T>G (p.Leu694Arg) c.200T>G (p.Leu67Arg) n.3526T>G | |
12 | g.40298430T= | CA2030982835 | LRRK2 | c.3284T= (p.Leu1095=) c.*2193T= (n.*2193T=) c.3029T= (p.Leu1010=) c.328T= c.2081T= (p.Leu694=) c.200T= (p.Leu67=) n.3526T= | |
12 | g.40298431G>A | CA479391269 | LRRK2 | c.3285G>A (p.Leu1095=) c.*2194G>A (n.*2194G>A) c.3030G>A (p.Leu1010=) c.329G>A c.2082G>A (p.Leu694=) c.201G>A (p.Leu67=) n.3527G>A | gnomAD v4 |
12 | g.40298431G>C | CA479391270 | LRRK2 | c.3285G>C (p.Leu1095=) c.*2194G>C (n.*2194G>C) c.3030G>C (p.Leu1010=) c.329G>C c.2082G>C (p.Leu694=) c.201G>C (p.Leu67=) n.3527G>C | |
12 | g.40298431G= | CA2030982836 | LRRK2 | c.3285G= (p.Leu1095=) c.*2194G= (n.*2194G=) c.3030G= (p.Leu1010=) c.329G= c.2082G= (p.Leu694=) c.201G= (p.Leu67=) n.3527G= | |
12 | g.40298431G>T | CA6513861 | LRRK2 | c.3285G>T (p.Leu1095=) c.*2194G>T (n.*2194G>T) c.3030G>T (p.Leu1010=) c.329G>T c.2082G>T (p.Leu694=) c.201G>T (p.Leu67=) n.3527G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.40298432T>A | CA384415010 | LRRK2 | c.3286T>A (p.Ser1096Thr) c.*2195T>A (n.*2195T>A) c.3031T>A (p.Ser1011Thr) c.330T>A c.2083T>A (p.Ser695Thr) c.202T>A (p.Ser68Thr) n.3528T>A | |
12 | g.40298432T>C | CA6513862 | LRRK2 | c.3286T>C (p.Ser1096Pro) c.*2195T>C (n.*2195T>C) c.3031T>C (p.Ser1011Pro) c.330T>C c.2083T>C (p.Ser695Pro) c.202T>C (p.Ser68Pro) n.3528T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.40298432T>G | CA384415012 | LRRK2 | c.3286T>G (p.Ser1096Ala) c.*2195T>G (n.*2195T>G) c.3031T>G (p.Ser1011Ala) c.330T>G c.2083T>G (p.Ser695Ala) c.202T>G (p.Ser68Ala) n.3528T>G | |
12 | g.40298432T= | CA2030982837 | LRRK2 | c.3286T= (p.Ser1096=) c.*2195T= (n.*2195T=) c.3031T= (p.Ser1011=) c.330T= c.2083T= (p.Ser695=) c.202T= (p.Ser68=) n.3528T= | |
12 | g.40298433C>A | CA384415021 | LRRK2 | c.3287C>A (p.Ser1096Tyr) c.*2196C>A (n.*2196C>A) c.3032C>A (p.Ser1011Tyr) c.331C>A c.2084C>A (p.Ser695Tyr) c.203C>A (p.Ser68Tyr) n.3529C>A | |
12 | g.40298433C= | CA2030982838 | LRRK2 | c.3287C= (p.Ser1096=) c.*2196C= (n.*2196C=) c.3032C= (p.Ser1011=) c.331C= c.2084C= (p.Ser695=) c.203C= (p.Ser68=) n.3529C= | |
12 | g.40298433C>G | CA343535 | LRRK2 | c.3287C>G (p.Ser1096Cys) c.*2196C>G (n.*2196C>G) c.3032C>G (p.Ser1011Cys) c.331C>G c.2084C>G (p.Ser695Cys) c.203C>G (p.Ser68Cys) n.3529C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.40298433C>T | CA6513863 | LRRK2 | c.3287C>T (p.Ser1096Phe) c.*2196C>T (n.*2196C>T) c.3032C>T (p.Ser1011Phe) c.331C>T c.2084C>T (p.Ser695Phe) c.203C>T (p.Ser68Phe) n.3529C>T | dbSNP ExAC gnomAD v2 |
12 | g.40298434T>A | CA479391273 | LRRK2 | c.3288T>A (p.Ser1096=) c.*2197T>A (n.*2197T>A) c.3033T>A (p.Ser1011=) c.332T>A c.2085T>A (p.Ser695=) c.204T>A (p.Ser68=) n.3530T>A | gnomAD v4 |
12 | g.40298434T>C | CA479391271 | LRRK2 | c.3288T>C (p.Ser1096=) c.*2197T>C (n.*2197T>C) c.3033T>C (p.Ser1011=) c.332T>C c.2085T>C (p.Ser695=) c.204T>C (p.Ser68=) n.3530T>C | |
12 | g.40298434T>G | CA479391272 | LRRK2 | c.3288T>G (p.Ser1096=) c.*2197T>G (n.*2197T>G) c.3033T>G (p.Ser1011=) c.332T>G c.2085T>G (p.Ser695=) c.204T>G (p.Ser68=) n.3530T>G | |
12 | g.40298435T>A | CA384415026 | LRRK2 | c.3289T>A (p.Phe1097Ile) c.*2198T>A (n.*2198T>A) c.3034T>A (p.Phe1012Ile) c.333T>A c.2086T>A (p.Phe696Ile) c.205T>A (p.Phe69Ile) n.3531T>A | |
12 | g.40298435T>C | CA384415029 | LRRK2 | c.3289T>C (p.Phe1097Leu) c.*2198T>C (n.*2198T>C) c.3034T>C (p.Phe1012Leu) c.333T>C c.2086T>C (p.Phe696Leu) c.205T>C (p.Phe69Leu) n.3531T>C | |
12 | g.40298435T>G | CA384415031 | LRRK2 | c.3289T>G (p.Phe1097Val) c.*2198T>G (n.*2198T>G) c.3034T>G (p.Phe1012Val) c.333T>G c.2086T>G (p.Phe696Val) c.205T>G (p.Phe69Val) n.3531T>G | dbSNP |
12 | g.40298435T= | CA2030982839 | LRRK2 | c.3289T= (p.Phe1097=) c.*2198T= (n.*2198T=) c.3034T= (p.Phe1012=) c.333T= c.2086T= (p.Phe696=) c.205T= (p.Phe69=) n.3531T= | |
12 | g.40298436T>A | CA384415034 | LRRK2 | c.3290T>A (p.Phe1097Tyr) c.*2199T>A (n.*2199T>A) c.3035T>A (p.Phe1012Tyr) c.334T>A c.2087T>A (p.Phe696Tyr) c.206T>A (p.Phe69Tyr) n.3532T>A | |
12 | g.40298436T>C | CA384415037 | LRRK2 | c.3290T>C (p.Phe1097Ser) c.*2199T>C (n.*2199T>C) c.3035T>C (p.Phe1012Ser) c.334T>C c.2087T>C (p.Phe696Ser) c.206T>C (p.Phe69Ser) n.3532T>C | ClinVar |
12 | g.40298436T>G | CA384415039 | LRRK2 | c.3290T>G (p.Phe1097Cys) c.*2199T>G (n.*2199T>G) c.3035T>G (p.Phe1012Cys) c.334T>G c.2087T>G (p.Phe696Cys) c.206T>G (p.Phe69Cys) n.3532T>G | |
12 | g.40298437T>A | CA235348785 | LRRK2 | c.3291T>A (p.Phe1097Leu) c.*2200T>A (n.*2200T>A) c.3036T>A (p.Phe1012Leu) c.335T>A c.2088T>A (p.Phe696Leu) c.207T>A (p.Phe69Leu) n.3533T>A | dbSNP gnomAD v4 |
12 | g.40298437T>C | CA479391274 | LRRK2 | c.3291T>C (p.Phe1097=) c.*2200T>C (n.*2200T>C) c.3036T>C (p.Phe1012=) c.335T>C c.2088T>C (p.Phe696=) c.207T>C (p.Phe69=) n.3533T>C | |
12 | g.40298437T>G | CA384415042 | LRRK2 | c.3291T>G (p.Phe1097Leu) c.*2200T>G (n.*2200T>G) c.3036T>G (p.Phe1012Leu) c.335T>G c.2088T>G (p.Phe696Leu) c.207T>G (p.Phe69Leu) n.3533T>G | |
12 | g.40298437T= | CA2030982840 | LRRK2 | c.3291T= (p.Phe1097=) c.*2200T= (n.*2200T=) c.3036T= (p.Phe1012=) c.335T= c.2088T= (p.Phe696=) c.207T= (p.Phe69=) n.3533T= | |
12 | g.40298438G>A | CA384415045 | LRRK2 | c.3292G>A (p.Val1098Ile) c.*2201G>A (n.*2201G>A) c.3037G>A (p.Val1013Ile) c.336G>A c.2089G>A (p.Val697Ile) c.208G>A (p.Val70Ile) n.3534G>A | gnomAD v4 |
12 | g.40298438G>C | CA384415044 | LRRK2 | c.3292G>C (p.Val1098Leu) c.*2201G>C (n.*2201G>C) c.3037G>C (p.Val1013Leu) c.336G>C c.2089G>C (p.Val697Leu) c.208G>C (p.Val70Leu) n.3534G>C | dbSNP gnomAD v4 |
12 | g.40298438G= | CA2030982841 | LRRK2 | c.3292G= (p.Val1098=) c.*2201G= (n.*2201G=) c.3037G= (p.Val1013=) c.336G= c.2089G= (p.Val697=) c.208G= (p.Val70=) n.3534G= | |
12 | g.40298438G>T | CA6513864 | LRRK2 | c.3292G>T (p.Val1098Leu) c.*2201G>T (n.*2201G>T) c.3037G>T (p.Val1013Leu) c.336G>T c.2089G>T (p.Val697Leu) c.208G>T (p.Val70Leu) n.3534G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.40298439T>A | CA384415048 | LRRK2 | c.3293T>A (p.Val1098Glu) c.*2202T>A (n.*2202T>A) c.3038T>A (p.Val1013Glu) c.337T>A c.2090T>A (p.Val697Glu) c.209T>A (p.Val70Glu) n.3535T>A | |
12 | g.40298439T>C | CA384415049 | LRRK2 | c.3293T>C (p.Val1098Ala) c.*2202T>C (n.*2202T>C) c.3038T>C (p.Val1013Ala) c.337T>C c.2090T>C (p.Val697Ala) c.209T>C (p.Val70Ala) n.3535T>C | COSMIC COSMIC |
12 | g.40298439T>G | CA384415050 | LRRK2 | c.3293T>G (p.Val1098Gly) c.*2202T>G (n.*2202T>G) c.3038T>G (p.Val1013Gly) c.337T>G c.2090T>G (p.Val697Gly) c.209T>G (p.Val70Gly) n.3535T>G | |
12 | g.40298440A>C | CA479391277 | LRRK2 | c.3294A>C (p.Val1098=) c.*2203A>C (n.*2203A>C) c.3039A>C (p.Val1013=) c.338A>C c.2091A>C (p.Val697=) c.210A>C (p.Val70=) n.3536A>C | |
12 | g.40298440A>G | CA479391275 | LRRK2 | c.3294A>G (p.Val1098=) c.*2203A>G (n.*2203A>G) c.3039A>G (p.Val1013=) c.338A>G c.2091A>G (p.Val697=) c.210A>G (p.Val70=) n.3536A>G | gnomAD v4 |
12 | g.40298440A>T | CA479391276 | LRRK2 | c.3294A>T (p.Val1098=) c.*2203A>T (n.*2203A>T) c.3039A>T (p.Val1013=) c.338A>T c.2091A>T (p.Val697=) c.210A>T (p.Val70=) n.3536A>T | |
12 | g.40298441C>A | CA384415054 | LRRK2 | c.3295C>A (p.Pro1099Thr) c.*2204C>A (n.*2204C>A) c.3040C>A (p.Pro1014Thr) c.339C>A c.2092C>A (p.Pro698Thr) c.211C>A (p.Pro71Thr) n.3537C>A | |
12 | g.40298441C>G | CA384415055 | LRRK2 | c.3295C>G (p.Pro1099Ala) c.*2204C>G (n.*2204C>G) c.3040C>G (p.Pro1014Ala) c.339C>G c.2092C>G (p.Pro698Ala) c.211C>G (p.Pro71Ala) n.3537C>G | |
12 | g.40298441C>T | CA384415058 | LRRK2 | c.3295C>T (p.Pro1099Ser) c.*2204C>T (n.*2204C>T) c.3040C>T (p.Pro1014Ser) c.339C>T c.2092C>T (p.Pro698Ser) c.211C>T (p.Pro71Ser) n.3537C>T | |
12 | g.40298442C>A | CA384415059 | LRRK2 | c.3296C>A (p.Pro1099His) c.*2205C>A (n.*2205C>A) c.3041C>A (p.Pro1014His) c.340C>A c.2093C>A (p.Pro698His) c.212C>A (p.Pro71His) n.3538C>A | |
12 | g.40298442C>G | CA384415060 | LRRK2 | c.3296C>G (p.Pro1099Arg) c.*2205C>G (n.*2205C>G) c.3041C>G (p.Pro1014Arg) c.340C>G c.2093C>G (p.Pro698Arg) c.212C>G (p.Pro71Arg) n.3538C>G | |
12 | g.40298442C>T | CA384415063 | LRRK2 | c.3296C>T (p.Pro1099Leu) c.*2205C>T (n.*2205C>T) c.3041C>T (p.Pro1014Leu) c.340C>T c.2093C>T (p.Pro698Leu) c.212C>T (p.Pro71Leu) n.3538C>T | |
12 | g.40298443T>A | CA479391278 | LRRK2 | c.3297T>A (p.Pro1099=) c.*2206T>A (n.*2206T>A) c.3042T>A (p.Pro1014=) c.341T>A c.2094T>A (p.Pro698=) c.213T>A (p.Pro71=) n.3539T>A | |
12 | g.40298443T>C | CA479391279 | LRRK2 | c.3297T>C (p.Pro1099=) c.*2206T>C (n.*2206T>C) c.3042T>C (p.Pro1014=) c.341T>C c.2094T>C (p.Pro698=) c.213T>C (p.Pro71=) n.3539T>C | |
12 | g.40298443T>G | CA479391280 | LRRK2 | c.3297T>G (p.Pro1099=) c.*2206T>G (n.*2206T>G) c.3042T>G (p.Pro1014=) c.341T>G c.2094T>G (p.Pro698=) c.213T>G (p.Pro71=) n.3539T>G | |
12 | g.40298444G>A | CA384415065 | LRRK2 | c.3298G>A (p.Glu1100Lys) c.*2207G>A (n.*2207G>A) c.3043G>A (p.Glu1015Lys) c.342G>A c.2095G>A (p.Glu699Lys) c.214G>A (p.Glu72Lys) n.3540G>A | |
12 | g.40298444G>C | CA384415068 | LRRK2 | c.3298G>C (p.Glu1100Gln) c.*2207G>C (n.*2207G>C) c.3043G>C (p.Glu1015Gln) c.342G>C c.2095G>C (p.Glu699Gln) c.214G>C (p.Glu72Gln) n.3540G>C | |
12 | g.40298444G>T | CA384415070 | LRRK2 | c.3298G>T (p.Glu1100Ter) c.*2207G>T (n.*2207G>T) c.3043G>T (p.Glu1015Ter) c.342G>T c.2095G>T (p.Glu699Ter) c.214G>T (p.Glu72Ter) n.3540G>T | |
12 | g.40298445A>C | CA384415076 | LRRK2 | c.3299A>C (p.Glu1100Ala) c.*2208A>C (n.*2208A>C) c.3044A>C (p.Glu1015Ala) c.343A>C c.2096A>C (p.Glu699Ala) c.215A>C (p.Glu72Ala) n.3541A>C | |
12 | g.40298445A>G | CA384415073 | LRRK2 | c.3299A>G (p.Glu1100Gly) c.*2208A>G (n.*2208A>G) c.3044A>G (p.Glu1015Gly) c.343A>G c.2096A>G (p.Glu699Gly) c.215A>G (p.Glu72Gly) n.3541A>G | |
12 | g.40298445A>T | CA384415072 | LRRK2 | c.3299A>T (p.Glu1100Val) c.*2208A>T (n.*2208A>T) c.3044A>T (p.Glu1015Val) c.343A>T c.2096A>T (p.Glu699Val) c.215A>T (p.Glu72Val) n.3541A>T | |
12 | g.40298446G>A | CA479391281 | LRRK2 | c.3300G>A (p.Glu1100=) c.*2209G>A (n.*2209G>A) c.3045G>A (p.Glu1015=) c.344G>A c.2097G>A (p.Glu699=) c.216G>A (p.Glu72=) n.3542G>A | |
12 | g.40298446G>C | CA384415080 | LRRK2 | c.3300G>C (p.Glu1100Asp) c.*2209G>C (n.*2209G>C) c.3045G>C (p.Glu1015Asp) c.344G>C c.2097G>C (p.Glu699Asp) c.216G>C (p.Glu72Asp) n.3542G>C | |
12 | g.40298446G>T | CA384415082 | LRRK2 | c.3300G>T (p.Glu1100Asp) c.*2209G>T (n.*2209G>T) c.3045G>T (p.Glu1015Asp) c.344G>T c.2097G>T (p.Glu699Asp) c.216G>T (p.Glu72Asp) n.3542G>T | |
12 | g.40298447A= | CA2030982842 | LRRK2 | c.3301A= (p.Asn1101=) c.*2210A= (n.*2210A=) c.3046A= (p.Asn1016=) c.345A= c.2098A= (p.Asn700=) c.217A= (p.Asn73=) n.3543A= | |
12 | g.40298447A>C | CA384415085 | LRRK2 | c.3301A>C (p.Asn1101His) c.*2210A>C (n.*2210A>C) c.3046A>C (p.Asn1016His) c.345A>C c.2098A>C (p.Asn700His) c.217A>C (p.Asn73His) n.3543A>C | |
12 | g.40298447A>G | CA6513865 | LRRK2 | c.3301A>G (p.Asn1101Asp) c.*2210A>G (n.*2210A>G) c.3046A>G (p.Asn1016Asp) c.345A>G c.2098A>G (p.Asn700Asp) c.217A>G (p.Asn73Asp) n.3543A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.40298447A>T | CA384415089 | LRRK2 | c.3301A>T (p.Asn1101Tyr) c.*2210A>T (n.*2210A>T) c.3046A>T (p.Asn1016Tyr) c.345A>T c.2098A>T (p.Asn700Tyr) c.217A>T (p.Asn73Tyr) n.3543A>T | |
12 | g.40298448A>C | CA384415092 | LRRK2 | c.3302A>C (p.Asn1101Thr) c.*2211A>C (n.*2211A>C) c.3047A>C (p.Asn1016Thr) c.346A>C c.2099A>C (p.Asn700Thr) c.218A>C (p.Asn73Thr) n.3544A>C | |
12 | g.40298448A>G | CA384415094 | LRRK2 | c.3302A>G (p.Asn1101Ser) c.*2211A>G (n.*2211A>G) c.3047A>G (p.Asn1016Ser) c.346A>G c.2099A>G (p.Asn700Ser) c.218A>G (p.Asn73Ser) n.3544A>G | |
12 | g.40298448A>T | CA384415096 | LRRK2 | c.3302A>T (p.Asn1101Ile) c.*2211A>T (n.*2211A>T) c.3047A>T (p.Asn1016Ile) c.346A>T c.2099A>T (p.Asn700Ile) c.218A>T (p.Asn73Ile) n.3544A>T | |
12 | g.40298449C>A | CA384415098 | LRRK2 | c.3303C>A (p.Asn1101Lys) c.*2212C>A (n.*2212C>A) c.3048C>A (p.Asn1016Lys) c.347C>A c.2100C>A (p.Asn700Lys) c.219C>A (p.Asn73Lys) n.3545C>A | |
12 | g.40298449C>G | CA384415100 | LRRK2 | c.3303C>G (p.Asn1101Lys) c.*2212C>G (n.*2212C>G) c.3048C>G (p.Asn1016Lys) c.347C>G c.2100C>G (p.Asn700Lys) c.219C>G (p.Asn73Lys) n.3545C>G | |
12 | g.40298449C>T | CA479391282 | LRRK2 | c.3303C>T (p.Asn1101=) c.*2212C>T (n.*2212C>T) c.3048C>T (p.Asn1016=) c.347C>T c.2100C>T (p.Asn700=) c.219C>T (p.Asn73=) n.3545C>T | gnomAD v4 |
12 | g.40298450C>A | CA384415102 | LRRK2 | c.3304C>A (p.Leu1102Ile) c.*2213C>A (n.*2213C>A) c.3049C>A (p.Leu1017Ile) c.348C>A c.2101C>A (p.Leu701Ile) c.220C>A (p.Leu74Ile) n.3546C>A | |
12 | g.40298450C>G | CA384415104 | LRRK2 | c.3304C>G (p.Leu1102Val) c.*2213C>G (n.*2213C>G) c.3049C>G (p.Leu1017Val) c.348C>G c.2101C>G (p.Leu701Val) c.220C>G (p.Leu74Val) n.3546C>G | dbSNP |
12 | g.40298450C>T | CA384415106 | LRRK2 | c.3304C>T (p.Leu1102Phe) c.*2213C>T (n.*2213C>T) c.3049C>T (p.Leu1017Phe) c.348C>T c.2101C>T (p.Leu701Phe) c.220C>T (p.Leu74Phe) n.3546C>T | |
12 | g.40298451T>A | CA384415112 | LRRK2 | c.3305T>A (p.Leu1102His) c.*2214T>A (n.*2214T>A) c.3050T>A (p.Leu1017His) c.349T>A c.2102T>A (p.Leu701His) c.221T>A (p.Leu74His) n.3547T>A | |
12 | g.40298451T>C | CA384415108 | LRRK2 | c.3305T>C (p.Leu1102Pro) c.*2214T>C (n.*2214T>C) c.3050T>C (p.Leu1017Pro) c.349T>C c.2102T>C (p.Leu701Pro) c.221T>C (p.Leu74Pro) n.3547T>C | |
12 | g.40298451T>G | CA384415110 | LRRK2 | c.3305T>G (p.Leu1102Arg) c.*2214T>G (n.*2214T>G) c.3050T>G (p.Leu1017Arg) c.349T>G c.2102T>G (p.Leu701Arg) c.221T>G (p.Leu74Arg) n.3547T>G | |
12 | g.40298452C>A | CA479391283 | LRRK2 | c.3306C>A (p.Leu1102=) c.*2215C>A (n.*2215C>A) c.3051C>A (p.Leu1017=) c.350C>A c.2103C>A (p.Leu701=) c.222C>A (p.Leu74=) n.3548C>A | |
12 | g.40298452C= | CA2030982843 | LRRK2 | c.3306C= (p.Leu1102=) c.*2215C= (n.*2215C=) c.3051C= (p.Leu1017=) c.350C= c.2103C= (p.Leu701=) c.222C= (p.Leu74=) n.3548C= | |
12 | g.40298452C>G | CA479391284 | LRRK2 | c.3306C>G (p.Leu1102=) c.*2215C>G (n.*2215C>G) c.3051C>G (p.Leu1017=) c.350C>G c.2103C>G (p.Leu701=) c.222C>G (p.Leu74=) n.3548C>G | |
12 | g.40298452C>T | CA479391285 | LRRK2 | c.3306C>T (p.Leu1102=) c.*2215C>T (n.*2215C>T) c.3051C>T (p.Leu1017=) c.350C>T c.2103C>T (p.Leu701=) c.222C>T (p.Leu74=) n.3548C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.40298453A>C | CA384415114 | LRRK2 | c.3307A>C (p.Thr1103Pro) c.*2216A>C (n.*2216A>C) c.3052A>C (p.Thr1018Pro) c.351A>C c.2104A>C (p.Thr702Pro) c.223A>C (p.Thr75Pro) n.3549A>C | |
12 | g.40298453A>G | CA384415116 | LRRK2 | c.3307A>G (p.Thr1103Ala) c.*2216A>G (n.*2216A>G) c.3052A>G (p.Thr1018Ala) c.351A>G c.2104A>G (p.Thr702Ala) c.223A>G (p.Thr75Ala) n.3549A>G | |
12 | g.40298453A>T | CA384415118 | LRRK2 | c.3307A>T (p.Thr1103Ser) c.*2216A>T (n.*2216A>T) c.3052A>T (p.Thr1018Ser) c.351A>T c.2104A>T (p.Thr702Ser) c.223A>T (p.Thr75Ser) n.3549A>T | |
12 | g.40298454C>A | CA384415121 | LRRK2 | c.3308C>A (p.Thr1103Asn) c.*2217C>A (n.*2217C>A) c.3053C>A (p.Thr1018Asn) c.352C>A c.2105C>A (p.Thr702Asn) c.224C>A (p.Thr75Asn) n.3550C>A | |
12 | g.40298454C>G | CA384415122 | LRRK2 | c.3308C>G (p.Thr1103Ser) c.*2217C>G (n.*2217C>G) c.3053C>G (p.Thr1018Ser) c.352C>G c.2105C>G (p.Thr702Ser) c.224C>G (p.Thr75Ser) n.3550C>G | |
12 | g.40298454C>T | CA384415123 | LRRK2 | c.3308C>T (p.Thr1103Ile) c.*2217C>T (n.*2217C>T) c.3053C>T (p.Thr1018Ile) c.352C>T c.2105C>T (p.Thr702Ile) c.224C>T (p.Thr75Ile) n.3550C>T | gnomAD v4 |
12 | g.40298455T>A | CA479391286 | LRRK2 | c.3309T>A (p.Thr1103=) c.*2218T>A (n.*2218T>A) c.3054T>A (p.Thr1018=) c.353T>A c.2106T>A (p.Thr702=) c.225T>A (p.Thr75=) n.3551T>A | |
12 | g.40298455T>C | CA479391287 | LRRK2 | c.3309T>C (p.Thr1103=) c.*2218T>C (n.*2218T>C) c.3054T>C (p.Thr1018=) c.353T>C c.2106T>C (p.Thr702=) c.225T>C (p.Thr75=) n.3551T>C | |
12 | g.40298455T>G | CA479391288 | LRRK2 | c.3309T>G (p.Thr1103=) c.*2218T>G (n.*2218T>G) c.3054T>G (p.Thr1018=) c.353T>G c.2106T>G (p.Thr702=) c.225T>G (p.Thr75=) n.3551T>G | |
12 | g.40298456G>A | CA384415127 | LRRK2 | c.3310G>A (p.Asp1104Asn) c.*2219G>A (n.*2219G>A) c.3055G>A (p.Asp1019Asn) c.354G>A c.2107G>A (p.Asp703Asn) c.226G>A (p.Asp76Asn) n.3552G>A | dbSNP gnomAD v4 |
12 | g.40298456G>C | CA384415128 | LRRK2 | c.3310G>C (p.Asp1104His) c.*2219G>C (n.*2219G>C) c.3055G>C (p.Asp1019His) c.354G>C c.2107G>C (p.Asp703His) c.226G>C (p.Asp76His) n.3552G>C | |
12 | g.40298456G= | CA2030982844 | LRRK2 | c.3310G= (p.Asp1104=) c.*2219G= (n.*2219G=) c.3055G= (p.Asp1019=) c.354G= c.2107G= (p.Asp703=) c.226G= (p.Asp76=) n.3552G= | |
12 | g.40298456G>T | CA384415130 | LRRK2 | c.3310G>T (p.Asp1104Tyr) c.*2219G>T (n.*2219G>T) c.3055G>T (p.Asp1019Tyr) c.354G>T c.2107G>T (p.Asp703Tyr) c.226G>T (p.Asp76Tyr) n.3552G>T | |
12 | g.40298457A>C | CA384415132 | LRRK2 | c.3311A>C (p.Asp1104Ala) c.*2220A>C (n.*2220A>C) c.3056A>C (p.Asp1019Ala) c.355A>C c.2108A>C (p.Asp703Ala) c.227A>C (p.Asp76Ala) n.3553A>C | |
12 | g.40298457A>G | CA384415134 | LRRK2 | c.3311A>G (p.Asp1104Gly) c.*2220A>G (n.*2220A>G) c.3056A>G (p.Asp1019Gly) c.355A>G c.2108A>G (p.Asp703Gly) c.227A>G (p.Asp76Gly) n.3553A>G | |
12 | g.40298457A>T | CA384415136 | LRRK2 | c.3311A>T (p.Asp1104Val) c.*2220A>T (n.*2220A>T) c.3056A>T (p.Asp1019Val) c.355A>T c.2108A>T (p.Asp703Val) c.227A>T (p.Asp76Val) n.3553A>T | |
12 | g.40298458T>A | CA384415140 | LRRK2 | c.3312T>A (p.Asp1104Glu) c.*2221T>A (n.*2221T>A) c.3057T>A (p.Asp1019Glu) c.356T>A c.2109T>A (p.Asp703Glu) c.228T>A (p.Asp76Glu) n.3554T>A | |
12 | g.40298458T>C | CA6513866 | LRRK2 | c.3312T>C (p.Asp1104=) c.*2221T>C (n.*2221T>C) c.3057T>C (p.Asp1019=) c.356T>C c.2109T>C (p.Asp703=) c.228T>C (p.Asp76=) n.3554T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.40298458T>G | CA384415138 | LRRK2 | c.3312T>G (p.Asp1104Glu) c.*2221T>G (n.*2221T>G) c.3057T>G (p.Asp1019Glu) c.356T>G c.2109T>G (p.Asp703Glu) c.228T>G (p.Asp76Glu) n.3554T>G | |
12 | g.40298458T= | CA2030982845 | LRRK2 | c.3312T= (p.Asp1104=) c.*2221T= (n.*2221T=) c.3057T= (p.Asp1019=) c.356T= c.2109T= (p.Asp703=) c.228T= (p.Asp76=) n.3554T= | |
12 | g.40298459G>A | CA235348796 | LRRK2 | c.3313G>A (p.Val1105Met) c.*2222G>A (n.*2222G>A) c.3058G>A (p.Val1020Met) c.357G>A c.2110G>A (p.Val704Met) c.229G>A (p.Val77Met) n.3555G>A | dbSNP gnomAD v4 |
12 | g.40298459G>C | CA384415144 | LRRK2 | c.3313G>C (p.Val1105Leu) c.*2222G>C (n.*2222G>C) c.3058G>C (p.Val1020Leu) c.357G>C c.2110G>C (p.Val704Leu) c.229G>C (p.Val77Leu) n.3555G>C | |
12 | g.40298459G= | CA2030982846 | LRRK2 | c.3313G= (p.Val1105=) c.*2222G= (n.*2222G=) c.3058G= (p.Val1020=) c.357G= c.2110G= (p.Val704=) c.229G= (p.Val77=) n.3555G= | |
12 | g.40298459G>T | CA384415142 | LRRK2 | c.3313G>T (p.Val1105Leu) c.*2222G>T (n.*2222G>T) c.3058G>T (p.Val1020Leu) c.357G>T c.2110G>T (p.Val704Leu) c.229G>T (p.Val77Leu) n.3555G>T | |
12 | g.40298461_40298463del | CA2618282097 | LRRK2 | c.3315_3317del (p.Val1106del) c.*2224_*2226del (n.*2224_*2226del) c.3060_3062del (p.Val1021del) c.359_361del c.2112_2114del (p.Val705del) c.231_233del (p.Val78del) n.3557_3559del | gnomAD v4 |
12 | g.40298460T>A | CA384415146 | LRRK2 | c.3314T>A (p.Val1105Glu) c.*2223T>A (n.*2223T>A) c.3059T>A (p.Val1020Glu) c.358T>A c.2111T>A (p.Val704Glu) c.230T>A (p.Val77Glu) n.3556T>A | |
12 | g.40298460T>C | CA384415149 | LRRK2 | c.3314T>C (p.Val1105Ala) c.*2223T>C (n.*2223T>C) c.3059T>C (p.Val1020Ala) c.358T>C c.2111T>C (p.Val704Ala) c.230T>C (p.Val77Ala) n.3556T>C | |
12 | g.40298460T>G | CA235348802 | LRRK2 | c.3314T>G (p.Val1105Gly) c.*2223T>G (n.*2223T>G) c.3059T>G (p.Val1020Gly) c.358T>G c.2111T>G (p.Val704Gly) c.230T>G (p.Val77Gly) n.3556T>G | dbSNP gnomAD v4 |
12 | g.40298460T= | CA2030982847 | LRRK2 | c.3314T= (p.Val1105=) c.*2223T= (n.*2223T=) c.3059T= (p.Val1020=) c.358T= c.2111T= (p.Val704=) c.230T= (p.Val77=) n.3556T= | |
12 | g.40298461G>A | CA479391289 | LRRK2 | c.3315G>A (p.Val1105=) c.*2224G>A (n.*2224G>A) c.3060G>A (p.Val1020=) c.359G>A c.2112G>A (p.Val704=) c.231G>A (p.Val77=) n.3557G>A | |
12 | g.40298461G>C | CA479391290 | LRRK2 | c.3315G>C (p.Val1105=) c.*2224G>C (n.*2224G>C) c.3060G>C (p.Val1020=) c.359G>C c.2112G>C (p.Val704=) c.231G>C (p.Val77=) n.3557G>C | |
12 | g.40298461G>T | CA479391291 | LRRK2 | c.3315G>T (p.Val1105=) c.*2224G>T (n.*2224G>T) c.3060G>T (p.Val1020=) c.359G>T c.2112G>T (p.Val704=) c.231G>T (p.Val77=) n.3557G>T | |
12 | g.40298462dup | CA2838495859 | LRRK2 | c.3316dup (p.Val1106GlyfsTer13) c.*2225dup (n.*2225dup) c.3061dup (p.Val1021GlyfsTer13) c.360dup c.2113dup (p.Val705GlyfsTer13) c.232dup (p.Val78GlyfsTer13) n.3558dup | |
12 | g.40298462G>A | CA384415152 | LRRK2 | c.3316G>A (p.Val1106Ile) c.*2225G>A (n.*2225G>A) c.3061G>A (p.Val1021Ile) c.360G>A c.2113G>A (p.Val705Ile) c.232G>A (p.Val78Ile) n.3558G>A | ClinVar gnomAD v4 |
12 | g.40298462G>C | CA384415154 | LRRK2 | c.3316G>C (p.Val1106Leu) c.*2225G>C (n.*2225G>C) c.3061G>C (p.Val1021Leu) c.360G>C c.2113G>C (p.Val705Leu) c.232G>C (p.Val78Leu) n.3558G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.40298462G= | CA2030982848 | LRRK2 | c.3316G= (p.Val1106=) c.*2225G= (n.*2225G=) c.3061G= (p.Val1021=) c.360G= c.2113G= (p.Val705=) c.232G= (p.Val78=) n.3558G= | |
12 | g.40298462G>T | CA384415156 | LRRK2 | c.3316G>T (p.Val1106Leu) c.*2225G>T (n.*2225G>T) c.3061G>T (p.Val1021Leu) c.360G>T c.2113G>T (p.Val705Leu) c.232G>T (p.Val78Leu) n.3558G>T | dbSNP |
12 | g.40298463T>A | CA384415158 | LRRK2 | c.3317T>A (p.Val1106Glu) c.*2226T>A (n.*2226T>A) c.3062T>A (p.Val1021Glu) c.361T>A c.2114T>A (p.Val705Glu) c.233T>A (p.Val78Glu) n.3559T>A | |
12 | g.40298463T>C | CA384415159 | LRRK2 | c.3317T>C (p.Val1106Ala) c.*2226T>C (n.*2226T>C) c.3062T>C (p.Val1021Ala) c.361T>C c.2114T>C (p.Val705Ala) c.233T>C (p.Val78Ala) n.3559T>C | |
12 | g.40298463T>G | CA384415160 | LRRK2 | c.3317T>G (p.Val1106Gly) c.*2226T>G (n.*2226T>G) c.3062T>G (p.Val1021Gly) c.361T>G c.2114T>G (p.Val705Gly) c.233T>G (p.Val78Gly) n.3559T>G | |
12 | g.40298464A= | CA2030982849 | LRRK2 | c.3318A= (p.Val1106=) c.*2227A= (n.*2227A=) c.3063A= (p.Val1021=) c.362A= c.2115A= (p.Val705=) c.234A= (p.Val78=) n.3560A= | |
12 | g.40298464A>C | CA479391292 | LRRK2 | c.3318A>C (p.Val1106=) c.*2227A>C (n.*2227A>C) c.3063A>C (p.Val1021=) c.362A>C c.2115A>C (p.Val705=) c.234A>C (p.Val78=) n.3560A>C | |
12 | g.40298464A>G | CA235348807 | LRRK2 | c.3318A>G (p.Val1106=) c.*2227A>G (n.*2227A>G) c.3063A>G (p.Val1021=) c.362A>G c.2115A>G (p.Val705=) c.234A>G (p.Val78=) n.3560A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.40298464A>T | CA479391293 | LRRK2 | c.3318A>T (p.Val1106=) c.*2227A>T (n.*2227A>T) c.3063A>T (p.Val1021=) c.362A>T c.2115A>T (p.Val705=) c.234A>T (p.Val78=) n.3560A>T | |
12 | g.40298465G>A | CA384415164 | LRRK2 | c.3319G>A (p.Glu1107Lys) c.*2228G>A (n.*2228G>A) c.3064G>A (p.Glu1022Lys) c.363G>A c.2116G>A (p.Glu706Lys) c.235G>A (p.Glu79Lys) n.3561G>A | |
12 | g.40298465G>C | CA384415165 | LRRK2 | c.3319G>C (p.Glu1107Gln) c.*2228G>C (n.*2228G>C) c.3064G>C (p.Glu1022Gln) c.363G>C c.2116G>C (p.Glu706Gln) c.235G>C (p.Glu79Gln) n.3561G>C | |
12 | g.40298465G>T | CA384415167 | LRRK2 | c.3319G>T (p.Glu1107Ter) c.*2228G>T (n.*2228G>T) c.3064G>T (p.Glu1022Ter) c.363G>T c.2116G>T (p.Glu706Ter) c.235G>T (p.Glu79Ter) n.3561G>T | |
12 | g.40298466A>C | CA384415169 | LRRK2 | c.3320A>C (p.Glu1107Ala) c.*2229A>C (n.*2229A>C) c.3065A>C (p.Glu1022Ala) c.364A>C n.1A>C c.2117A>C (p.Glu706Ala) c.236A>C (p.Glu79Ala) n.3562A>C | |
12 | g.40298466A>G | CA384415172 | LRRK2 | c.3320A>G (p.Glu1107Gly) c.*2229A>G (n.*2229A>G) c.3065A>G (p.Glu1022Gly) c.364A>G n.1A>G c.2117A>G (p.Glu706Gly) c.236A>G (p.Glu79Gly) n.3562A>G | |
12 | g.40298466A>T | CA384415171 | LRRK2 | c.3320A>T (p.Glu1107Val) c.*2229A>T (n.*2229A>T) c.3065A>T (p.Glu1022Val) c.364A>T n.1A>T c.2117A>T (p.Glu706Val) c.236A>T (p.Glu79Val) n.3562A>T | COSMIC COSMIC |
12 | g.40298467G>A | CA479391294 | LRRK2 | c.3321G>A (p.Glu1107=) c.*2230G>A (n.*2230G>A) c.3066G>A (p.Glu1022=) c.365G>A n.2G>A c.2118G>A (p.Glu706=) c.237G>A (p.Glu79=) n.3563G>A | |
12 | g.40298467G>C | CA384415174 | LRRK2 | c.3321G>C (p.Glu1107Asp) c.*2230G>C (n.*2230G>C) c.3066G>C (p.Glu1022Asp) c.365G>C n.2G>C c.2118G>C (p.Glu706Asp) c.237G>C (p.Glu79Asp) n.3563G>C | |
12 | g.40298467G>T | CA384415175 | LRRK2 | c.3321G>T (p.Glu1107Asp) c.*2230G>T (n.*2230G>T) c.3066G>T (p.Glu1022Asp) c.365G>T n.2G>T c.2118G>T (p.Glu706Asp) c.237G>T (p.Glu79Asp) n.3563G>T | COSMIC COSMIC |
12 | g.40298468A>C | CA384415177 | LRRK2 | c.3322A>C (p.Lys1108Gln) c.*2231A>C (n.*2231A>C) c.3067A>C (p.Lys1023Gln) c.366A>C n.3A>C c.2119A>C (p.Lys707Gln) c.238A>C (p.Lys80Gln) n.3564A>C | |
12 | g.40298468A>G | CA384415178 | LRRK2 | c.3322A>G (p.Lys1108Glu) c.*2231A>G (n.*2231A>G) c.3067A>G (p.Lys1023Glu) c.366A>G n.3A>G c.2119A>G (p.Lys707Glu) c.238A>G (p.Lys80Glu) n.3564A>G | |
12 | g.40298468A>T | CA384415180 | LRRK2 | c.3322A>T (p.Lys1108Ter) c.*2231A>T (n.*2231A>T) c.3067A>T (p.Lys1023Ter) c.366A>T n.3A>T c.2119A>T (p.Lys707Ter) c.238A>T (p.Lys80Ter) n.3564A>T | gnomAD v4 |
12 | g.40298469A>C | CA384415182 | LRRK2 | c.3323A>C (p.Lys1108Thr) c.*2232A>C (n.*2232A>C) c.3068A>C (p.Lys1023Thr) c.367A>C n.4A>C c.2120A>C (p.Lys707Thr) c.239A>C (p.Lys80Thr) n.3565A>C | |
12 | g.40298469A>G | CA384415184 | LRRK2 | c.3323A>G (p.Lys1108Arg) c.*2232A>G (n.*2232A>G) c.3068A>G (p.Lys1023Arg) c.367A>G n.4A>G c.2120A>G (p.Lys707Arg) c.239A>G (p.Lys80Arg) n.3565A>G | |
12 | g.40298469A>T | CA384415185 | LRRK2 | c.3323A>T (p.Lys1108Ile) c.*2232A>T (n.*2232A>T) c.3068A>T (p.Lys1023Ile) c.367A>T n.4A>T c.2120A>T (p.Lys707Ile) c.239A>T (p.Lys80Ile) n.3565A>T | |
12 | g.40298470A>C | CA384415186 | LRRK2 | c.3324A>C (p.Lys1108Asn) c.*2233A>C (n.*2233A>C) c.3069A>C (p.Lys1023Asn) c.368A>C n.5A>C c.2121A>C (p.Lys707Asn) c.240A>C (p.Lys80Asn) n.3566A>C | |
12 | g.40298470A>G | CA479391295 | LRRK2 | c.3324A>G (p.Lys1108=) c.*2233A>G (n.*2233A>G) c.3069A>G (p.Lys1023=) c.368A>G n.5A>G c.2121A>G (p.Lys707=) c.240A>G (p.Lys80=) n.3566A>G | ClinVar |
12 | g.40298470A>T | CA384415187 | LRRK2 | c.3324A>T (p.Lys1108Asn) c.*2233A>T (n.*2233A>T) c.3069A>T (p.Lys1023Asn) c.368A>T n.5A>T c.2121A>T (p.Lys707Asn) c.240A>T (p.Lys80Asn) n.3566A>T | |
12 | g.40298471C>A | CA384415192 | LRRK2 | c.3325C>A (p.Leu1109Met) c.*2234C>A (n.*2234C>A) c.3070C>A (p.Leu1024Met) c.369C>A n.6C>A c.2122C>A (p.Leu708Met) c.241C>A (p.Leu81Met) n.3567C>A | ClinVar |
12 | g.40298471C= | CA2030982850 | LRRK2 | c.3325C= (p.Leu1109=) c.*2234C= (n.*2234C=) c.3070C= (p.Leu1024=) c.369C= n.6C= c.2122C= (p.Leu708=) c.241C= (p.Leu81=) n.3567C= | |
12 | g.40298471C>G | CA384415190 | LRRK2 | c.3325C>G (p.Leu1109Val) c.*2234C>G (n.*2234C>G) c.3070C>G (p.Leu1024Val) c.369C>G n.6C>G c.2122C>G (p.Leu708Val) c.241C>G (p.Leu81Val) n.3567C>G | |
12 | g.40298471C>T | CA6513867 | LRRK2 | c.3325C>T (p.Leu1109=) c.*2234C>T (n.*2234C>T) c.3070C>T (p.Leu1024=) c.369C>T n.6C>T c.2122C>T (p.Leu708=) c.241C>T (p.Leu81=) n.3567C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.40298472T>A | CA384415195 | LRRK2 | c.3326T>A (p.Leu1109Gln) c.*2235T>A (n.*2235T>A) c.3071T>A (p.Leu1024Gln) c.370T>A n.7T>A c.2123T>A (p.Leu708Gln) c.242T>A (p.Leu81Gln) n.3568T>A | |
12 | g.40298472T>C | CA384415196 | LRRK2 | c.3326T>C (p.Leu1109Pro) c.*2235T>C (n.*2235T>C) c.3071T>C (p.Leu1024Pro) c.370T>C n.7T>C c.2123T>C (p.Leu708Pro) c.242T>C (p.Leu81Pro) n.3568T>C | dbSNP gnomAD v4 |
12 | g.40298472T>G | CA384415197 | LRRK2 | c.3326T>G (p.Leu1109Arg) c.*2235T>G (n.*2235T>G) c.3071T>G (p.Leu1024Arg) c.370T>G n.7T>G c.2123T>G (p.Leu708Arg) c.242T>G (p.Leu81Arg) n.3568T>G | |
12 | g.40298472T= | CA2030982851 | LRRK2 | c.3326T= (p.Leu1109=) c.*2235T= (n.*2235T=) c.3071T= (p.Leu1024=) c.370T= n.7T= c.2123T= (p.Leu708=) c.242T= (p.Leu81=) n.3568T= | |
12 | g.40298473G>A | CA479391296 | LRRK2 | c.3327G>A (p.Leu1109=) c.*2236G>A (n.*2236G>A) c.3072G>A (p.Leu1024=) c.371G>A n.8G>A c.2124G>A (p.Leu708=) c.243G>A (p.Leu81=) n.3569G>A | |
12 | g.40298473G>C | CA479391297 | LRRK2 | c.3327G>C (p.Leu1109=) c.*2236G>C (n.*2236G>C) c.3072G>C (p.Leu1024=) c.371G>C n.8G>C c.2124G>C (p.Leu708=) c.243G>C (p.Leu81=) n.3569G>C | |
12 | g.40298473G>T | CA479391298 | LRRK2 | c.3327G>T (p.Leu1109=) c.*2236G>T (n.*2236G>T) c.3072G>T (p.Leu1024=) c.371G>T n.8G>T c.2124G>T (p.Leu708=) c.243G>T (p.Leu81=) n.3569G>T | |
12 | g.40298474G>A | CA384415200 | LRRK2 | c.3328G>A (p.Glu1110Lys) c.*2237G>A (n.*2237G>A) c.3073G>A (p.Glu1025Lys) c.372G>A n.9G>A c.2125G>A (p.Glu709Lys) c.244G>A (p.Glu82Lys) n.3570G>A | |
12 | g.40298474G>C | CA235348872 | LRRK2 | c.3328G>C (p.Glu1110Gln) c.*2237G>C (n.*2237G>C) c.3073G>C (p.Glu1025Gln) c.372G>C n.9G>C c.2125G>C (p.Glu709Gln) c.244G>C (p.Glu82Gln) n.3570G>C | dbSNP |
12 | g.40298474G= | CA2030982852 | LRRK2 | c.3328G= (p.Glu1110=) c.*2237G= (n.*2237G=) c.3073G= (p.Glu1025=) c.372G= n.9G= c.2125G= (p.Glu709=) c.244G= (p.Glu82=) n.3570G= | |
12 | g.40298474G>T | CA384415202 | LRRK2 | c.3328G>T (p.Glu1110Ter) c.*2237G>T (n.*2237G>T) c.3073G>T (p.Glu1025Ter) c.372G>T n.9G>T c.2125G>T (p.Glu709Ter) c.244G>T (p.Glu82Ter) n.3570G>T | |
12 | g.40298475A>C | CA384415203 | LRRK2 | c.3329A>C (p.Glu1110Ala) c.*2238A>C (n.*2238A>C) c.3074A>C (p.Glu1025Ala) c.373A>C n.10A>C c.2126A>C (p.Glu709Ala) c.245A>C (p.Glu82Ala) n.3571A>C | |
12 | g.40298475A>G | CA384415205 | LRRK2 | c.3329A>G (p.Glu1110Gly) c.*2238A>G (n.*2238A>G) c.3074A>G (p.Glu1025Gly) c.373A>G n.10A>G c.2126A>G (p.Glu709Gly) c.245A>G (p.Glu82Gly) n.3571A>G | |
12 | g.40298475A>T | CA384415207 | LRRK2 | c.3329A>T (p.Glu1110Val) c.*2238A>T (n.*2238A>T) c.3074A>T (p.Glu1025Val) c.373A>T n.10A>T c.2126A>T (p.Glu709Val) c.245A>T (p.Glu82Val) n.3571A>T | gnomAD v4 |
12 | g.40298476G>A | CA235348876 | LRRK2 | c.3330G>A (p.Glu1110=) c.*2239G>A (n.*2239G>A) c.3075G>A (p.Glu1025=) c.374G>A n.11G>A c.2127G>A (p.Glu709=) c.246G>A (p.Glu82=) n.3572G>A | ClinVar dbSNP gnomAD v2 |
12 | g.40298476G>C | CA384415210 | LRRK2 | c.3330G>C (p.Glu1110Asp) c.*2239G>C (n.*2239G>C) c.3075G>C (p.Glu1025Asp) c.374G>C n.11G>C c.2127G>C (p.Glu709Asp) c.246G>C (p.Glu82Asp) n.3572G>C | |
12 | g.40298476G= | CA2030982853 | LRRK2 | c.3330G= (p.Glu1110=) c.*2239G= (n.*2239G=) c.3075G= (p.Glu1025=) c.374G= n.11G= c.2127G= (p.Glu709=) c.246G= (p.Glu82=) n.3572G= | |
12 | g.40298476G>T | CA384415211 | LRRK2 | c.3330G>T (p.Glu1110Asp) c.*2239G>T (n.*2239G>T) c.3075G>T (p.Glu1025Asp) c.374G>T n.11G>T c.2127G>T (p.Glu709Asp) c.246G>T (p.Glu82Asp) n.3572G>T | |
12 | g.40298477C>A | CA384415214 | LRRK2 | c.3331C>A (p.Gln1111Lys) c.*2240C>A (n.*2240C>A) c.3076C>A (p.Gln1026Lys) c.375C>A n.12C>A c.2128C>A (p.Gln710Lys) c.247C>A (p.Gln83Lys) n.3573C>A | |
12 | g.40298477C= | CA2030982854 | LRRK2 | c.3331C= (p.Gln1111=) c.*2240C= (n.*2240C=) c.3076C= (p.Gln1026=) c.375C= n.12C= c.2128C= (p.Gln710=) c.247C= (p.Gln83=) n.3573C= | |
12 | g.40298477C>G | CA384415215 | LRRK2 | c.3331C>G (p.Gln1111Glu) c.*2240C>G (n.*2240C>G) c.3076C>G (p.Gln1026Glu) c.375C>G n.12C>G c.2128C>G (p.Gln710Glu) c.247C>G (p.Gln83Glu) n.3573C>G | |
12 | g.40298477C>T | CA6513868 | LRRK2 | c.3331C>T (p.Gln1111Ter) c.*2240C>T (n.*2240C>T) c.3076C>T (p.Gln1026Ter) c.375C>T n.12C>T c.2128C>T (p.Gln710Ter) c.247C>T (p.Gln83Ter) n.3573C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.40298478A>C | CA384415218 | LRRK2 | c.3332A>C (p.Gln1111Pro) c.*2241A>C (n.*2241A>C) c.3077A>C (p.Gln1026Pro) c.376A>C n.13A>C c.2129A>C (p.Gln710Pro) c.248A>C (p.Gln83Pro) n.3574A>C | ClinVar |
12 | g.40298478A>G | CA384415220 | LRRK2 | c.3332A>G (p.Gln1111Arg) c.*2241A>G (n.*2241A>G) c.3077A>G (p.Gln1026Arg) c.376A>G n.13A>G c.2129A>G (p.Gln710Arg) c.248A>G (p.Gln83Arg) n.3574A>G | gnomAD v4 |
12 | g.40298478A>T | CA384415221 | LRRK2 | c.3332A>T (p.Gln1111Leu) c.*2241A>T (n.*2241A>T) c.3077A>T (p.Gln1026Leu) c.376A>T n.13A>T c.2129A>T (p.Gln710Leu) c.248A>T (p.Gln83Leu) n.3574A>T | |
12 | g.40298479G>A | CA479391299 | LRRK2 | c.3333G>A (p.Gln1111=) c.*2242G>A (n.*2242G>A) c.3078G>A (p.Gln1026=) c.377G>A n.14G>A c.2130G>A (p.Gln710=) c.249G>A (p.Gln83=) n.3575G>A | |
12 | g.40298479G>C | CA384415223 | LRRK2 | c.3333G>C (p.Gln1111His) c.*2242G>C (n.*2242G>C) c.3078G>C (p.Gln1026His) c.377G>C n.14G>C c.2130G>C (p.Gln710His) c.249G>C (p.Gln83His) n.3575G>C | |
12 | g.40298479G= | CA2030982855 | LRRK2 | c.3333G= (p.Gln1111=) c.*2242G= (n.*2242G=) c.3078G= (p.Gln1026=) c.377G= n.14G= c.2130G= (p.Gln710=) c.249G= (p.Gln83=) n.3575G= | |
12 | g.40298479G>T | CA343537 | LRRK2 | c.3333G>T (p.Gln1111His) c.*2242G>T (n.*2242G>T) c.3078G>T (p.Gln1026His) c.377G>T n.14G>T c.2130G>T (p.Gln710His) c.249G>T (p.Gln83His) n.3575G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.40298480C>A | CA384415229 | LRRK2 | c.3334C>A (p.Leu1112Ile) c.*2243C>A (n.*2243C>A) c.3079C>A (p.Leu1027Ile) c.378C>A n.15C>A c.2131C>A (p.Leu711Ile) c.250C>A (p.Leu84Ile) n.3576C>A | ClinVar gnomAD v4 |
12 | g.40298480C>G | CA384415225 | LRRK2 | c.3334C>G (p.Leu1112Val) c.*2243C>G (n.*2243C>G) c.3079C>G (p.Leu1027Val) c.378C>G n.15C>G c.2131C>G (p.Leu711Val) c.250C>G (p.Leu84Val) n.3576C>G | |
12 | g.40298480C>T | CA384415227 | LRRK2 | c.3334C>T (p.Leu1112Phe) c.*2243C>T (n.*2243C>T) c.3079C>T (p.Leu1027Phe) c.378C>T n.15C>T c.2131C>T (p.Leu711Phe) c.250C>T (p.Leu84Phe) n.3576C>T | ClinVar |
12 | g.40298481T>A | CA384415231 | LRRK2 | c.3335T>A (p.Leu1112His) c.*2244T>A (n.*2244T>A) c.3080T>A (p.Leu1027His) c.379T>A n.16T>A c.2132T>A (p.Leu711His) c.251T>A (p.Leu84His) n.3577T>A | |
12 | g.40298481T>C | CA6513869 | LRRK2 | c.3335T>C (p.Leu1112Pro) c.*2244T>C (n.*2244T>C) c.3080T>C (p.Leu1027Pro) c.379T>C n.16T>C c.2132T>C (p.Leu711Pro) c.251T>C (p.Leu84Pro) n.3577T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.40298481T>G | CA384415233 | LRRK2 | c.3335T>G (p.Leu1112Arg) c.*2244T>G (n.*2244T>G) c.3080T>G (p.Leu1027Arg) c.379T>G n.16T>G c.2132T>G (p.Leu711Arg) c.251T>G (p.Leu84Arg) n.3577T>G | |
12 | g.40298481T= | CA2030982856 | LRRK2 | c.3335T= (p.Leu1112=) c.*2244T= (n.*2244T=) c.3080T= (p.Leu1027=) c.379T= n.16T= c.2132T= (p.Leu711=) c.251T= (p.Leu84=) n.3577T= | |
12 | g.40298482C>A | CA479390938 | LRRK2 | c.3336C>A (p.Leu1112=) c.*2245C>A (n.*2245C>A) c.3081C>A (p.Leu1027=) c.380C>A n.17C>A c.2133C>A (p.Leu711=) c.252C>A (p.Leu84=) n.3578C>A | |
12 | g.40298482C>G | CA479390939 | LRRK2 | c.3336C>G (p.Leu1112=) c.*2245C>G (n.*2245C>G) c.3081C>G (p.Leu1027=) c.380C>G n.17C>G c.2133C>G (p.Leu711=) c.252C>G (p.Leu84=) n.3578C>G | |
12 | g.40298482C>T | CA479390940 | LRRK2 | c.3336C>T (p.Leu1112=) c.*2245C>T (n.*2245C>T) c.3081C>T (p.Leu1027=) c.380C>T n.17C>T c.2133C>T (p.Leu711=) c.252C>T (p.Leu84=) n.3578C>T | |
12 | g.40298483A= | CA2030982857 | LRRK2 | c.3337A= (p.Ile1113=) c.*2246A= (n.*2246A=) c.3082A= (p.Ile1028=) c.381A= n.18A= c.2134A= (p.Ile712=) c.253A= (p.Ile85=) n.3579A= | |
12 | g.40298483A>C | CA384415236 | LRRK2 | c.3337A>C (p.Ile1113Leu) c.*2246A>C (n.*2246A>C) c.3082A>C (p.Ile1028Leu) c.381A>C n.18A>C c.2134A>C (p.Ile712Leu) c.253A>C (p.Ile85Leu) n.3579A>C | |
12 | g.40298483A>G | CA384415237 | LRRK2 | c.3337A>G (p.Ile1113Val) c.*2246A>G (n.*2246A>G) c.3082A>G (p.Ile1028Val) c.381A>G n.18A>G c.2134A>G (p.Ile712Val) c.253A>G (p.Ile85Val) n.3579A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.40298483A>T | CA384415239 | LRRK2 | c.3337A>T (p.Ile1113Phe) c.*2246A>T (n.*2246A>T) c.3082A>T (p.Ile1028Phe) c.381A>T n.18A>T c.2134A>T (p.Ile712Phe) c.253A>T (p.Ile85Phe) n.3579A>T | |
12 | g.40298484T>A | CA384415243 | LRRK2 | c.3338T>A (p.Ile1113Asn) c.*2247T>A (n.*2247T>A) c.3083T>A (p.Ile1028Asn) c.382T>A n.19T>A c.2135T>A (p.Ile712Asn) c.254T>A (p.Ile85Asn) n.3580T>A | |
12 | g.40298484T>C | CA384415246 | LRRK2 | c.3338T>C (p.Ile1113Thr) c.*2247T>C (n.*2247T>C) c.3083T>C (p.Ile1028Thr) c.382T>C n.19T>C c.2135T>C (p.Ile712Thr) c.254T>C (p.Ile85Thr) n.3580T>C | |
12 | g.40298484T>G | CA384415242 | LRRK2 | c.3338T>G (p.Ile1113Ser) c.*2247T>G (n.*2247T>G) c.3083T>G (p.Ile1028Ser) c.382T>G n.19T>G c.2135T>G (p.Ile712Ser) c.254T>G (p.Ile85Ser) n.3580T>G | |
12 | g.40298485T>A | CA479390942 | LRRK2 | c.3339T>A (p.Ile1113=) c.*2248T>A (n.*2248T>A) c.3084T>A (p.Ile1028=) c.383T>A n.20T>A c.2136T>A (p.Ile712=) c.255T>A (p.Ile85=) n.3581T>A | |
12 | g.40298485T>C | CA479390943 | LRRK2 | c.3339T>C (p.Ile1113=) c.*2248T>C (n.*2248T>C) c.3084T>C (p.Ile1028=) c.383T>C n.20T>C c.2136T>C (p.Ile712=) c.255T>C (p.Ile85=) n.3581T>C | |
12 | g.40298485T>G | CA384415248 | LRRK2 | c.3339T>G (p.Ile1113Met) c.*2248T>G (n.*2248T>G) c.3084T>G (p.Ile1028Met) c.383T>G n.20T>G c.2136T>G (p.Ile712Met) c.255T>G (p.Ile85Met) n.3581T>G | |
12 | g.40298486T>A | CA384415250 | LRRK2 | c.3340T>A (p.Leu1114Ile) c.*2249T>A (n.*2249T>A) c.3085T>A (p.Leu1029Ile) c.384T>A n.21T>A c.2137T>A (p.Leu713Ile) c.256T>A (p.Leu86Ile) n.3582T>A | |
12 | g.40298486T>C | CA479390945 | LRRK2 | c.3340T>C (p.Leu1114=) c.*2249T>C (n.*2249T>C) c.3085T>C (p.Leu1029=) c.384T>C n.21T>C c.2137T>C (p.Leu713=) c.256T>C (p.Leu86=) n.3582T>C | |
12 | g.40298486T>G | CA384415251 | LRRK2 | c.3340T>G (p.Leu1114Val) c.*2249T>G (n.*2249T>G) c.3085T>G (p.Leu1029Val) c.384T>G n.21T>G c.2137T>G (p.Leu713Val) c.256T>G (p.Leu86Val) n.3582T>G | |
12 | g.40298487T>A | CA384415254 | LRRK2 | c.3341T>A (p.Leu1114Ter) c.*2250T>A (n.*2250T>A) c.3086T>A (p.Leu1029Ter) c.385T>A n.22T>A c.2138T>A (p.Leu713Ter) c.257T>A (p.Leu86Ter) n.3583T>A | |
12 | g.40298487T>C | CA6513870 | LRRK2 | c.3341T>C (p.Leu1114Ser) c.*2250T>C (n.*2250T>C) c.3086T>C (p.Leu1029Ser) c.385T>C n.22T>C c.2138T>C (p.Leu713Ser) c.257T>C (p.Leu86Ser) n.3583T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.40298487T>G | CA384415256 | LRRK2 | c.3341T>G (p.Leu1114Ter) c.*2250T>G (n.*2250T>G) c.3086T>G (p.Leu1029Ter) c.385T>G n.22T>G c.2138T>G (p.Leu713Ter) c.257T>G (p.Leu86Ter) n.3583T>G | |
12 | g.40298487T= | CA2030982858 | LRRK2 | c.3341T= (p.Leu1114=) c.*2250T= (n.*2250T=) c.3086T= (p.Leu1029=) c.385T= n.22T= c.2138T= (p.Leu713=) c.257T= (p.Leu86=) n.3583T= | |
12 | g.40298488A= | CA2030982859 | LRRK2 | c.3342A= (p.Leu1114=) c.*2251A= (n.*2251A=) c.3087A= (p.Leu1029=) c.386A= n.23A= c.2139A= (p.Leu713=) c.258A= (p.Leu86=) n.3584A= | |
12 | g.40298488A>C | CA384415259 | LRRK2 | c.3342A>C (p.Leu1114Phe) c.*2251A>C (n.*2251A>C) c.3087A>C (p.Leu1029Phe) c.386A>C n.23A>C c.2139A>C (p.Leu713Phe) c.258A>C (p.Leu86Phe) n.3584A>C | |
12 | g.40298488A>G | CA343539 | LRRK2 | c.3342A>G (p.Leu1114=) c.*2251A>G (n.*2251A>G) c.3087A>G (p.Leu1029=) c.386A>G n.23A>G c.2139A>G (p.Leu713=) c.258A>G (p.Leu86=) n.3584A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.40298488A>T | CA384415261 | LRRK2 | c.3342A>T (p.Leu1114Phe) c.*2251A>T (n.*2251A>T) c.3087A>T (p.Leu1029Phe) c.386A>T n.23A>T c.2139A>T (p.Leu713Phe) c.258A>T (p.Leu86Phe) n.3584A>T | COSMIC |
12 | g.40298489G>A | CA384415264 | LRRK2 | c.3343G>A (p.Glu1115Lys) c.*2252G>A (n.*2252G>A) c.3088G>A (p.Glu1030Lys) c.387G>A n.24G>A c.2140G>A (p.Glu714Lys) c.259G>A (p.Glu87Lys) n.3585G>A | |
12 | g.40298489G>C | CA384415265 | LRRK2 | c.3343G>C (p.Glu1115Gln) c.*2252G>C (n.*2252G>C) c.3088G>C (p.Glu1030Gln) c.387G>C n.24G>C c.2140G>C (p.Glu714Gln) c.259G>C (p.Glu87Gln) n.3585G>C | |
12 | g.40298489G>T | CA384415268 | LRRK2 | c.3343G>T (p.Glu1115Ter) c.*2252G>T (n.*2252G>T) c.3088G>T (p.Glu1030Ter) c.387G>T n.24G>T c.2140G>T (p.Glu714Ter) c.259G>T (p.Glu87Ter) n.3585G>T | |
12 | g.40298490A>C | CA384415270 | LRRK2 | c.3344A>C (p.Glu1115Ala) c.*2253A>C (n.*2253A>C) c.3089A>C (p.Glu1030Ala) c.388A>C n.25A>C c.2141A>C (p.Glu714Ala) c.260A>C (p.Glu87Ala) n.3586A>C | |
12 | g.40298490A>G | CA384415271 | LRRK2 | c.3344A>G (p.Glu1115Gly) c.*2253A>G (n.*2253A>G) c.3089A>G (p.Glu1030Gly) c.388A>G n.25A>G c.2141A>G (p.Glu714Gly) c.260A>G (p.Glu87Gly) n.3586A>G | |
12 | g.40298490A>T | CA384415273 | LRRK2 | c.3344A>T (p.Glu1115Val) c.*2253A>T (n.*2253A>T) c.3089A>T (p.Glu1030Val) c.388A>T n.25A>T c.2141A>T (p.Glu714Val) c.260A>T (p.Glu87Val) n.3586A>T | |
12 | g.40298491A>C | CA384415275 | LRRK2 | c.3345A>C (p.Glu1115Asp) c.*2254A>C (n.*2254A>C) c.3090A>C (p.Glu1030Asp) c.389A>C n.26A>C c.2142A>C (p.Glu714Asp) c.261A>C (p.Glu87Asp) n.3587A>C | |
12 | g.40298491A>G | CA479390955 | LRRK2 | c.3345A>G (p.Glu1115=) c.*2254A>G (n.*2254A>G) c.3090A>G (p.Glu1030=) c.389A>G n.26A>G c.2142A>G (p.Glu714=) c.261A>G (p.Glu87=) n.3587A>G | |
12 | g.40298491A>T | CA384415277 | LRRK2 | c.3345A>T (p.Glu1115Asp) c.*2254A>T (n.*2254A>T) c.3090A>T (p.Glu1030Asp) c.389A>T n.26A>T c.2142A>T (p.Glu714Asp) c.261A>T (p.Glu87Asp) n.3587A>T | |
12 | g.40298492G>A | CA235348892 | LRRK2 | c.3346G>A (p.Gly1116Arg) c.*2255G>A (n.*2255G>A) c.3091G>A (p.Gly1031Arg) c.390G>A n.27G>A c.2143G>A (p.Gly715Arg) c.262G>A (p.Gly88Arg) n.3588G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.40298492G>C | CA384415281 | LRRK2 | c.3346G>C (p.Gly1116Arg) c.*2255G>C (n.*2255G>C) c.3091G>C (p.Gly1031Arg) c.390G>C n.27G>C c.2143G>C (p.Gly715Arg) c.262G>C (p.Gly88Arg) n.3588G>C | |
12 | g.40298492G= | CA2030982860 | LRRK2 | c.3346G= (p.Gly1116=) c.*2255G= (n.*2255G=) c.3091G= (p.Gly1031=) c.390G= n.27G= c.2143G= (p.Gly715=) c.262G= (p.Gly88=) n.3588G= | |
12 | g.40298492G>T | CA384415279 | LRRK2 | c.3346G>T (p.Gly1116Ter) c.*2255G>T (n.*2255G>T) c.3091G>T (p.Gly1031Ter) c.390G>T n.27G>T c.2143G>T (p.Gly715Ter) c.262G>T (p.Gly88Ter) n.3588G>T | dbSNP gnomAD v4 COSMIC COSMIC |
12 | g.40298493G>A | CA384415283 | LRRK2 | c.3347G>A (p.Gly1116Glu) c.*2256G>A (n.*2256G>A) c.3092G>A (p.Gly1031Glu) c.391G>A n.28G>A c.2144G>A (p.Gly715Glu) c.263G>A (p.Gly88Glu) n.3589G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.40298493G>C | CA384415285 | LRRK2 | c.3347G>C (p.Gly1116Ala) c.*2256G>C (n.*2256G>C) c.3092G>C (p.Gly1031Ala) c.391G>C n.28G>C c.2144G>C (p.Gly715Ala) c.263G>C (p.Gly88Ala) n.3589G>C | dbSNP |
12 | g.40298493G= | CA2030982861 | LRRK2 | c.3347G= (p.Gly1116=) c.*2256G= (n.*2256G=) c.3092G= (p.Gly1031=) c.391G= n.28G= c.2144G= (p.Gly715=) c.263G= (p.Gly88=) n.3589G= | |
12 | g.40298493G>T | CA384415287 | LRRK2 | c.3347G>T (p.Gly1116Val) c.*2256G>T (n.*2256G>T) c.3092G>T (p.Gly1031Val) c.391G>T n.28G>T c.2144G>T (p.Gly715Val) c.263G>T (p.Gly88Val) n.3589G>T | |
12 | g.40298494G>A | CA384415289 | LRRK2 | c.3347+1G>A (n.3347+1G>A) c.*2256+1G>A (n.*2256+1G>A) c.3092+1G>A (n.3092+1G>A) c.391+1G>A n.28+1G>A c.2144+1G>A (n.2144+1G>A) c.263+1G>A (n.263+1G>A) n.3589+1G>A | |
12 | g.40298494G>C | CA384415291 | LRRK2 | c.3347+1G>C (n.3347+1G>C) c.*2256+1G>C (n.*2256+1G>C) c.3092+1G>C (n.3092+1G>C) c.391+1G>C n.28+1G>C c.2144+1G>C (n.2144+1G>C) c.263+1G>C (n.263+1G>C) n.3589+1G>C | |
12 | g.40298494G>T | CA384415293 | LRRK2 | c.3347+1G>T (n.3347+1G>T) c.*2256+1G>T (n.*2256+1G>T) c.3092+1G>T (n.3092+1G>T) c.391+1G>T n.28+1G>T c.2144+1G>T (n.2144+1G>T) c.263+1G>T (n.263+1G>T) n.3589+1G>T | COSMIC COSMIC |
12 | g.40298495T>A | CA384415295 | LRRK2 | c.3347+2T>A (n.3347+2T>A) c.*2256+2T>A (n.*2256+2T>A) c.3092+2T>A (n.3092+2T>A) c.391+2T>A n.28+2T>A c.2144+2T>A (n.2144+2T>A) c.263+2T>A (n.263+2T>A) n.3589+2T>A | |
12 | g.40298495T>C | CA384415297 | LRRK2 | c.3347+2T>C (n.3347+2T>C) c.*2256+2T>C (n.*2256+2T>C) c.3092+2T>C (n.3092+2T>C) c.391+2T>C n.28+2T>C c.2144+2T>C (n.2144+2T>C) c.263+2T>C (n.263+2T>C) n.3589+2T>C | |
12 | g.40298495T>G | CA384415298 | LRRK2 | c.3347+2T>G (n.3347+2T>G) c.*2256+2T>G (n.*2256+2T>G) c.3092+2T>G (n.3092+2T>G) c.391+2T>G n.28+2T>G c.2144+2T>G (n.2144+2T>G) c.263+2T>G (n.263+2T>G) n.3589+2T>G | |
12 | g.40298496A= | CA2030982862 | LRRK2 | c.3347+3A= (n.3347+3A=) c.*2256+3A= (n.*2256+3A=) c.3092+3A= (n.3092+3A=) c.391+3A= n.28+3A= c.2144+3A= (n.2144+3A=) c.263+3A= (n.263+3A=) n.3589+3A= | |
12 | g.40298496A>G | CA604810382 | LRRK2 | c.3347+3A>G (n.3347+3A>G) c.*2256+3A>G (n.*2256+3A>G) c.3092+3A>G (n.3092+3A>G) c.391+3A>G n.28+3A>G c.2144+3A>G (n.2144+3A>G) c.263+3A>G (n.263+3A>G) n.3589+3A>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.40298499A= | CA2030982863 | LRRK2 | c.3347+6A= (n.3347+6A=) c.*2256+6A= (n.*2256+6A=) c.3092+6A= (n.3092+6A=) c.391+6A= n.28+6A= c.2144+6A= (n.2144+6A=) c.263+6A= (n.263+6A=) n.3589+6A= | |
12 | g.40298499A>T | CA6513871 | LRRK2 | c.3347+6A>T (n.3347+6A>T) c.*2256+6A>T (n.*2256+6A>T) c.3092+6A>T (n.3092+6A>T) c.391+6A>T n.28+6A>T c.2144+6A>T (n.2144+6A>T) c.263+6A>T (n.263+6A>T) n.3589+6A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.40298500A= | CA2030982864 | LRRK2 | c.3347+7A= (n.3347+7A=) c.*2256+7A= (n.*2256+7A=) c.3092+7A= (n.3092+7A=) c.391+7A= n.28+7A= c.2144+7A= (n.2144+7A=) c.263+7A= (n.263+7A=) n.3589+7A= | |
12 | g.40298500A>G | CA2030982865 | LRRK2 | c.3347+7A>G (n.3347+7A>G) c.*2256+7A>G (n.*2256+7A>G) c.3092+7A>G (n.3092+7A>G) c.391+7A>G n.28+7A>G c.2144+7A>G (n.2144+7A>G) c.263+7A>G (n.263+7A>G) n.3589+7A>G | dbSNP |
12 | g.40298501A= | CA2030982866 | LRRK2 | c.3347+8A= (n.3347+8A=) c.*2256+8A= (n.*2256+8A=) c.3092+8A= (n.3092+8A=) c.391+8A= n.28+8A= c.2144+8A= (n.2144+8A=) c.263+8A= (n.263+8A=) n.3589+8A= | |
12 | g.40298501A>G | CA6513872 | LRRK2 | c.3347+8A>G (n.3347+8A>G) c.*2256+8A>G (n.*2256+8A>G) c.3092+8A>G (n.3092+8A>G) c.391+8A>G n.28+8A>G c.2144+8A>G (n.2144+8A>G) c.263+8A>G (n.263+8A>G) n.3589+8A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.40298503A= | CA2030982867 | LRRK2 | c.3347+10A= (n.3347+10A=) c.*2256+10A= (n.*2256+10A=) c.3092+10A= (n.3092+10A=) c.391+10A= n.28+10A= c.2144+10A= (n.2144+10A=) c.263+10A= (n.263+10A=) n.3589+10A= | |
12 | g.40298503A>G | CA6513873 | LRRK2 | c.3347+10A>G (n.3347+10A>G) c.*2256+10A>G (n.*2256+10A>G) c.3092+10A>G (n.3092+10A>G) c.391+10A>G n.28+10A>G c.2144+10A>G (n.2144+10A>G) c.263+10A>G (n.263+10A>G) n.3589+10A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.40298503A>T | CA2618282098 | LRRK2 | c.3347+10A>T (n.3347+10A>T) c.*2256+10A>T (n.*2256+10A>T) c.3092+10A>T (n.3092+10A>T) c.391+10A>T n.28+10A>T c.2144+10A>T (n.2144+10A>T) c.263+10A>T (n.263+10A>T) n.3589+10A>T | gnomAD v4 |
12 | g.40298504G= | CA2030982868 | LRRK2 | c.3347+11G= (n.3347+11G=) c.*2256+11G= (n.*2256+11G=) c.3092+11G= (n.3092+11G=) c.391+11G= n.28+11G= c.2144+11G= (n.2144+11G=) c.263+11G= (n.263+11G=) n.3589+11G= | |
12 | g.40298504G>T | CA6513874 | LRRK2 | c.3347+11G>T (n.3347+11G>T) c.*2256+11G>T (n.*2256+11G>T) c.3092+11G>T (n.3092+11G>T) c.391+11G>T n.28+11G>T c.2144+11G>T (n.2144+11G>T) c.263+11G>T (n.263+11G>T) n.3589+11G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.40298505C>T | CA2726212732 | LRRK2 | c.3347+12C>T (n.3347+12C>T) c.*2256+12C>T (n.*2256+12C>T) c.3092+12C>T (n.3092+12C>T) c.391+12C>T n.28+12C>T c.2144+12C>T (n.2144+12C>T) c.263+12C>T (n.263+12C>T) n.3589+12C>T | dbSNP |
12 | g.40298506T>A | CA2618282099 | LRRK2 | c.3347+13T>A (n.3347+13T>A) c.*2256+13T>A (n.*2256+13T>A) c.3092+13T>A (n.3092+13T>A) c.391+13T>A n.28+13T>A c.2144+13T>A (n.2144+13T>A) c.263+13T>A (n.263+13T>A) n.3589+13T>A | gnomAD v4 |
12 | g.40298507C>A | CA2618282100 | LRRK2 | c.3347+14C>A (n.3347+14C>A) c.*2256+14C>A (n.*2256+14C>A) c.3092+14C>A (n.3092+14C>A) c.391+14C>A n.28+14C>A c.2144+14C>A (n.2144+14C>A) c.263+14C>A (n.263+14C>A) n.3589+14C>A | gnomAD v4 |
12 | g.40298507C= | CA2030982869 | LRRK2 | c.3347+14C= (n.3347+14C=) c.*2256+14C= (n.*2256+14C=) c.3092+14C= (n.3092+14C=) c.391+14C= n.28+14C= c.2144+14C= (n.2144+14C=) c.263+14C= (n.263+14C=) n.3589+14C= | |
12 | g.40298507C>T | CA604810383 | LRRK2 | c.3347+14C>T (n.3347+14C>T) c.*2256+14C>T (n.*2256+14C>T) c.3092+14C>T (n.3092+14C>T) c.391+14C>T n.28+14C>T c.2144+14C>T (n.2144+14C>T) c.263+14C>T (n.263+14C>T) n.3589+14C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.40298508A= | CA2030982870 | LRRK2 | c.3347+15A= (n.3347+15A=) c.*2256+15A= (n.*2256+15A=) c.3092+15A= (n.3092+15A=) c.391+15A= n.28+15A= c.2144+15A= (n.2144+15A=) c.263+15A= (n.263+15A=) n.3589+15A= | |
12 | g.40298508A>C | CA6513875 | LRRK2 | c.3347+15A>C (n.3347+15A>C) c.*2256+15A>C (n.*2256+15A>C) c.3092+15A>C (n.3092+15A>C) c.391+15A>C n.28+15A>C c.2144+15A>C (n.2144+15A>C) c.263+15A>C (n.263+15A>C) n.3589+15A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.40298509T>C | CA2618282101 | LRRK2 | c.3347+16T>C (n.3347+16T>C) c.*2256+16T>C (n.*2256+16T>C) c.3092+16T>C (n.3092+16T>C) c.391+16T>C n.28+16T>C c.2144+16T>C (n.2144+16T>C) c.263+16T>C (n.263+16T>C) n.3589+16T>C | gnomAD v4 |
12 | g.40298510T>C | CA688716821 | LRRK2 | c.3347+17T>C (n.3347+17T>C) c.*2256+17T>C (n.*2256+17T>C) c.3092+17T>C (n.3092+17T>C) c.391+17T>C n.28+17T>C c.2144+17T>C (n.2144+17T>C) c.263+17T>C (n.263+17T>C) n.3589+17T>C | dbSNP gnomAD v4 |
12 | g.40298510T= | CA2030982871 | LRRK2 | c.3347+17T= (n.3347+17T=) c.*2256+17T= (n.*2256+17T=) c.3092+17T= (n.3092+17T=) c.391+17T= n.28+17T= c.2144+17T= (n.2144+17T=) c.263+17T= (n.263+17T=) n.3589+17T= | |
12 | g.40298511A>T | CA2618282102 | LRRK2 | c.3347+18A>T (n.3347+18A>T) c.*2256+18A>T (n.*2256+18A>T) c.3092+18A>T (n.3092+18A>T) c.391+18A>T n.28+18A>T c.2144+18A>T (n.2144+18A>T) c.263+18A>T (n.263+18A>T) n.3589+18A>T | gnomAD v4 |
12 | g.40298515A= | CA2030982872 | LRRK2 | c.3347+22A= (n.3347+22A=) c.*2256+22A= (n.*2256+22A=) c.3092+22A= (n.3092+22A=) c.391+22A= n.28+22A= c.2144+22A= (n.2144+22A=) c.263+22A= (n.263+22A=) n.3589+22A= | |
12 | g.40298515A>G | CA6513876 | LRRK2 | c.3347+22A>G (n.3347+22A>G) c.*2256+22A>G (n.*2256+22A>G) c.3092+22A>G (n.3092+22A>G) c.391+22A>G n.28+22A>G c.2144+22A>G (n.2144+22A>G) c.263+22A>G (n.263+22A>G) n.3589+22A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.40298516T>C | CA2575121847 | LRRK2 | c.3347+23T>C (n.3347+23T>C) c.*2256+23T>C (n.*2256+23T>C) c.3092+23T>C (n.3092+23T>C) c.391+23T>C n.28+23T>C c.2144+23T>C (n.2144+23T>C) c.263+23T>C (n.263+23T>C) n.3589+23T>C | |
12 | g.40298518A>T | CA2618282103 | LRRK2 | c.3347+25A>T (n.3347+25A>T) c.*2256+25A>T (n.*2256+25A>T) c.3092+25A>T (n.3092+25A>T) c.391+25A>T n.28+25A>T c.2144+25A>T (n.2144+25A>T) c.263+25A>T (n.263+25A>T) n.3589+25A>T | gnomAD v4 |
12 | g.40298521G>A | CA6513877 | LRRK2 | c.3347+28G>A (n.3347+28G>A) c.*2256+28G>A (n.*2256+28G>A) c.3092+28G>A (n.3092+28G>A) c.391+28G>A n.28+28G>A c.2144+28G>A (n.2144+28G>A) c.263+28G>A (n.263+28G>A) n.3589+28G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.40298521G>C | CA604810384 | LRRK2 | c.3347+28G>C (n.3347+28G>C) c.*2256+28G>C (n.*2256+28G>C) c.3092+28G>C (n.3092+28G>C) c.391+28G>C n.28+28G>C c.2144+28G>C (n.2144+28G>C) c.263+28G>C (n.263+28G>C) n.3589+28G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.40298521G= | CA2030982873 | LRRK2 | c.3347+28G= (n.3347+28G=) c.*2256+28G= (n.*2256+28G=) c.3092+28G= (n.3092+28G=) c.391+28G= n.28+28G= c.2144+28G= (n.2144+28G=) c.263+28G= (n.263+28G=) n.3589+28G= | |
12 | g.40298522_40298526del | CA2618282104 | LRRK2 | c.3347+29_3347+33del (n.3347+29_3347+33del) c.*2256+29_*2256+33del (n.*2256+29_*2256+33del) c.3092+29_3092+33del (n.3092+29_3092+33del) c.391+29_391+33del n.28+29_28+33del c.2144+29_2144+33del (n.2144+29_2144+33del) c.263+29_263+33del (n.263+29_263+33del) n.3589+29_3589+33del | gnomAD v4 |
12 | g.40298522G>A | CA6513878 | LRRK2 | c.3347+29G>A (n.3347+29G>A) c.*2256+29G>A (n.*2256+29G>A) c.3092+29G>A (n.3092+29G>A) c.391+29G>A n.28+29G>A c.2144+29G>A (n.2144+29G>A) c.263+29G>A (n.263+29G>A) n.3589+29G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.40298522G= | CA2030982874 | LRRK2 | c.3347+29G= (n.3347+29G=) c.*2256+29G= (n.*2256+29G=) c.3092+29G= (n.3092+29G=) c.391+29G= n.28+29G= c.2144+29G= (n.2144+29G=) c.263+29G= (n.263+29G=) n.3589+29G= | |
12 | g.40298522G>T | CA235348909 | LRRK2 | c.3347+29G>T (n.3347+29G>T) c.*2256+29G>T (n.*2256+29G>T) c.3092+29G>T (n.3092+29G>T) c.391+29G>T n.28+29G>T c.2144+29G>T (n.2144+29G>T) c.263+29G>T (n.263+29G>T) n.3589+29G>T | dbSNP gnomAD v4 |
12 | g.40298523G>A | CA604810385 | LRRK2 | c.3347+30G>A (n.3347+30G>A) c.*2256+30G>A (n.*2256+30G>A) c.3092+30G>A (n.3092+30G>A) c.391+30G>A n.28+30G>A c.2144+30G>A (n.2144+30G>A) c.263+30G>A (n.263+30G>A) n.3589+30G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.40298523G= | CA2030982875 | LRRK2 | c.3347+30G= (n.3347+30G=) c.*2256+30G= (n.*2256+30G=) c.3092+30G= (n.3092+30G=) c.391+30G= n.28+30G= c.2144+30G= (n.2144+30G=) c.263+30G= (n.263+30G=) n.3589+30G= | |
12 | g.40298524T>C | CA6513879 | LRRK2 | c.3347+31T>C (n.3347+31T>C) c.*2256+31T>C (n.*2256+31T>C) c.3092+31T>C (n.3092+31T>C) c.391+31T>C n.28+31T>C c.2144+31T>C (n.2144+31T>C) c.263+31T>C (n.263+31T>C) n.3589+31T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.40298524T= | CA2030982876 | LRRK2 | c.3347+31T= (n.3347+31T=) c.*2256+31T= (n.*2256+31T=) c.3092+31T= (n.3092+31T=) c.391+31T= n.28+31T= c.2144+31T= (n.2144+31T=) c.263+31T= (n.263+31T=) n.3589+31T= | |
12 | g.40298525T>C | CA2575121848 | LRRK2 | c.3347+32T>C (n.3347+32T>C) c.*2256+32T>C (n.*2256+32T>C) c.3092+32T>C (n.3092+32T>C) c.391+32T>C n.28+32T>C c.2144+32T>C (n.2144+32T>C) c.263+32T>C (n.263+32T>C) n.3589+32T>C | |
12 | g.40298527C>A | CA2575121849 | LRRK2 | c.3347+34C>A (n.3347+34C>A) c.*2256+34C>A (n.*2256+34C>A) c.3092+34C>A (n.3092+34C>A) c.391+34C>A n.28+34C>A c.2144+34C>A (n.2144+34C>A) c.263+34C>A (n.263+34C>A) n.3589+34C>A |