UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.40298384G>A | CA384414744 | LRRK2 | c.3238G>A (p.Val1080Met) c.*2147G>A (n.*2147G>A) c.2983G>A (p.Val995Met) c.282G>A c.2035G>A (p.Val679Met) c.154G>A (p.Val52Met) n.3480G>A | ClinVar |
| 12 | g.40298384G>C | CA384414747 | LRRK2 | c.3238G>C (p.Val1080Leu) c.*2147G>C (n.*2147G>C) c.2983G>C (p.Val995Leu) c.282G>C c.2035G>C (p.Val679Leu) c.154G>C (p.Val52Leu) n.3480G>C | |
| 12 | g.40298384G>T | CA384414749 | LRRK2 | c.3238G>T (p.Val1080Leu) c.*2147G>T (n.*2147G>T) c.2983G>T (p.Val995Leu) c.282G>T c.2035G>T (p.Val679Leu) c.154G>T (p.Val52Leu) n.3480G>T | |
| 12 | g.40298385T>A | CA384414752 | LRRK2 | c.3239T>A (p.Val1080Glu) c.*2148T>A (n.*2148T>A) c.2984T>A (p.Val995Glu) c.283T>A c.2036T>A (p.Val679Glu) c.155T>A (p.Val52Glu) n.3481T>A | |
| 12 | g.40298385T>C | CA384414755 | LRRK2 | c.3239T>C (p.Val1080Ala) c.*2148T>C (n.*2148T>C) c.2984T>C (p.Val995Ala) c.283T>C c.2036T>C (p.Val679Ala) c.155T>C (p.Val52Ala) n.3481T>C | |
| 12 | g.40298385T>G | CA384414757 | LRRK2 | c.3239T>G (p.Val1080Gly) c.*2148T>G (n.*2148T>G) c.2984T>G (p.Val995Gly) c.283T>G c.2036T>G (p.Val679Gly) c.155T>G (p.Val52Gly) n.3481T>G | |
| 12 | g.40298386G>A | CA235348728 | LRRK2 | c.3240G>A (p.Val1080=) c.*2149G>A (n.*2149G>A) c.2985G>A (p.Val995=) c.284G>A c.2037G>A (p.Val679=) c.156G>A (p.Val52=) n.3482G>A | dbSNP COSMIC |
| 12 | g.40298386G>C | CA479391229 | LRRK2 | c.3240G>C (p.Val1080=) c.*2149G>C (n.*2149G>C) c.2985G>C (p.Val995=) c.284G>C c.2037G>C (p.Val679=) c.156G>C (p.Val52=) n.3482G>C | |
| 12 | g.40298386G= | CA2030982815 | LRRK2 | c.3240G= (p.Val1080=) c.*2149G= (n.*2149G=) c.2985G= (p.Val995=) c.284G= c.2037G= (p.Val679=) c.156G= (p.Val52=) n.3482G= | |
| 12 | g.40298386G>T | CA479391228 | LRRK2 | c.3240G>T (p.Val1080=) c.*2149G>T (n.*2149G>T) c.2985G>T (p.Val995=) c.284G>T c.2037G>T (p.Val679=) c.156G>T (p.Val52=) n.3482G>T | gnomAD v4 COSMIC COSMIC |
| 12 | g.40298387A>C | CA384414762 | LRRK2 | c.3241A>C (p.Lys1081Gln) c.*2150A>C (n.*2150A>C) c.2986A>C (p.Lys996Gln) c.285A>C c.2038A>C (p.Lys680Gln) c.157A>C (p.Lys53Gln) n.3483A>C | |
| 12 | g.40298387A>G | CA384414765 | LRRK2 | c.3241A>G (p.Lys1081Glu) c.*2150A>G (n.*2150A>G) c.2986A>G (p.Lys996Glu) c.285A>G c.2038A>G (p.Lys680Glu) c.157A>G (p.Lys53Glu) n.3483A>G | |
| 12 | g.40298387A>T | CA384414764 | LRRK2 | c.3241A>T (p.Lys1081Ter) c.*2150A>T (n.*2150A>T) c.2986A>T (p.Lys996Ter) c.285A>T c.2038A>T (p.Lys680Ter) c.157A>T (p.Lys53Ter) n.3483A>T | |
| 12 | g.40298388A>C | CA384414766 | LRRK2 | c.3242A>C (p.Lys1081Thr) c.*2151A>C (n.*2151A>C) c.2987A>C (p.Lys996Thr) c.286A>C c.2039A>C (p.Lys680Thr) c.158A>C (p.Lys53Thr) n.3484A>C | |
| 12 | g.40298388A>G | CA384414768 | LRRK2 | c.3242A>G (p.Lys1081Arg) c.*2151A>G (n.*2151A>G) c.2987A>G (p.Lys996Arg) c.286A>G c.2039A>G (p.Lys680Arg) c.158A>G (p.Lys53Arg) n.3484A>G | ClinVar |
| 12 | g.40298388A>T | CA384414770 | LRRK2 | c.3242A>T (p.Lys1081Ile) c.*2151A>T (n.*2151A>T) c.2987A>T (p.Lys996Ile) c.286A>T c.2039A>T (p.Lys680Ile) c.158A>T (p.Lys53Ile) n.3484A>T | |
| 12 | g.40298389A= | CA2030982816 | LRRK2 | c.3243A= (p.Lys1081=) c.*2152A= (n.*2152A=) c.2988A= (p.Lys996=) c.287A= c.2040A= (p.Lys680=) c.159A= (p.Lys53=) n.3485A= | |
| 12 | g.40298389A>C | CA384414773 | LRRK2 | c.3243A>C (p.Lys1081Asn) c.*2152A>C (n.*2152A>C) c.2988A>C (p.Lys996Asn) c.287A>C c.2040A>C (p.Lys680Asn) c.159A>C (p.Lys53Asn) n.3485A>C | |
| 12 | g.40298389A>G | CA479391233 | LRRK2 | c.3243A>G (p.Lys1081=) c.*2152A>G (n.*2152A>G) c.2988A>G (p.Lys996=) c.287A>G c.2040A>G (p.Lys680=) c.159A>G (p.Lys53=) n.3485A>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.40298389A>T | CA384414774 | LRRK2 | c.3243A>T (p.Lys1081Asn) c.*2152A>T (n.*2152A>T) c.2988A>T (p.Lys996Asn) c.287A>T c.2040A>T (p.Lys680Asn) c.159A>T (p.Lys53Asn) n.3485A>T | |
| 12 | g.40298390T>A | CA384414776 | LRRK2 | c.3244T>A (p.Cys1082Ser) c.*2153T>A (n.*2153T>A) c.2989T>A (p.Cys997Ser) c.288T>A c.2041T>A (p.Cys681Ser) c.160T>A (p.Cys54Ser) n.3486T>A | |
| 12 | g.40298390T>C | CA384414777 | LRRK2 | c.3244T>C (p.Cys1082Arg) c.*2153T>C (n.*2153T>C) c.2989T>C (p.Cys997Arg) c.288T>C c.2041T>C (p.Cys681Arg) c.160T>C (p.Cys54Arg) n.3486T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.40298390T>G | CA384414778 | LRRK2 | c.3244T>G (p.Cys1082Gly) c.*2153T>G (n.*2153T>G) c.2989T>G (p.Cys997Gly) c.288T>G c.2041T>G (p.Cys681Gly) c.160T>G (p.Cys54Gly) n.3486T>G | |
| 12 | g.40298390T= | CA2030982817 | LRRK2 | c.3244T= (p.Cys1082=) c.*2153T= (n.*2153T=) c.2989T= (p.Cys997=) c.288T= c.2041T= (p.Cys681=) c.160T= (p.Cys54=) n.3486T= | |
| 12 | g.40298391G>A | CA384414781 | LRRK2 | c.3245G>A (p.Cys1082Tyr) c.*2154G>A (n.*2154G>A) c.2990G>A (p.Cys997Tyr) c.289G>A c.2042G>A (p.Cys681Tyr) c.161G>A (p.Cys54Tyr) n.3487G>A | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.40298391G>C | CA384414784 | LRRK2 | c.3245G>C (p.Cys1082Ser) c.*2154G>C (n.*2154G>C) c.2990G>C (p.Cys997Ser) c.289G>C c.2042G>C (p.Cys681Ser) c.161G>C (p.Cys54Ser) n.3487G>C | |
| 12 | g.40298391G= | CA2030982818 | LRRK2 | c.3245G= (p.Cys1082=) c.*2154G= (n.*2154G=) c.2990G= (p.Cys997=) c.289G= c.2042G= (p.Cys681=) c.161G= (p.Cys54=) n.3487G= | |
| 12 | g.40298391G>T | CA384414786 | LRRK2 | c.3245G>T (p.Cys1082Phe) c.*2154G>T (n.*2154G>T) c.2990G>T (p.Cys997Phe) c.289G>T c.2042G>T (p.Cys681Phe) c.161G>T (p.Cys54Phe) n.3487G>T | |
| 12 | g.40298392T>A | CA384414789 | LRRK2 | c.3246T>A (p.Cys1082Ter) c.*2155T>A (n.*2155T>A) c.2991T>A (p.Cys997Ter) c.290T>A c.2043T>A (p.Cys681Ter) c.162T>A (p.Cys54Ter) n.3488T>A | |
| 12 | g.40298392T>C | CA479391234 | LRRK2 | c.3246T>C (p.Cys1082=) c.*2155T>C (n.*2155T>C) c.2991T>C (p.Cys997=) c.290T>C c.2043T>C (p.Cys681=) c.162T>C (p.Cys54=) n.3488T>C | dbSNP gnomAD v4 |
| 12 | g.40298392T>G | CA384414791 | LRRK2 | c.3246T>G (p.Cys1082Trp) c.*2155T>G (n.*2155T>G) c.2991T>G (p.Cys997Trp) c.290T>G c.2043T>G (p.Cys681Trp) c.162T>G (p.Cys54Trp) n.3488T>G | |
| 12 | g.40298392T= | CA2030982819 | LRRK2 | c.3246T= (p.Cys1082=) c.*2155T= (n.*2155T=) c.2991T= (p.Cys997=) c.290T= c.2043T= (p.Cys681=) c.162T= (p.Cys54=) n.3488T= | |
| 12 | g.40298393C>A | CA384414793 | LRRK2 | c.3247C>A (p.Pro1083Thr) c.*2156C>A (n.*2156C>A) c.2992C>A (p.Pro998Thr) c.291C>A c.2044C>A (p.Pro682Thr) c.163C>A (p.Pro55Thr) n.3489C>A | |
| 12 | g.40298393C>G | CA384414796 | LRRK2 | c.3247C>G (p.Pro1083Ala) c.*2156C>G (n.*2156C>G) c.2992C>G (p.Pro998Ala) c.291C>G c.2044C>G (p.Pro682Ala) c.163C>G (p.Pro55Ala) n.3489C>G | |
| 12 | g.40298393C>T | CA384414797 | LRRK2 | c.3247C>T (p.Pro1083Ser) c.*2156C>T (n.*2156C>T) c.2992C>T (p.Pro998Ser) c.291C>T c.2044C>T (p.Pro682Ser) c.163C>T (p.Pro55Ser) n.3489C>T | |
| 12 | g.40298394C>A | CA384414798 | LRRK2 | c.3248C>A (p.Pro1083Gln) c.*2157C>A (n.*2157C>A) c.2993C>A (p.Pro998Gln) c.292C>A c.2045C>A (p.Pro682Gln) c.164C>A (p.Pro55Gln) n.3490C>A | |
| 12 | g.40298394C= | CA2030982820 | LRRK2 | c.3248C= (p.Pro1083=) c.*2157C= (n.*2157C=) c.2993C= (p.Pro998=) c.292C= c.2045C= (p.Pro682=) c.164C= (p.Pro55=) n.3490C= | |
| 12 | g.40298394C>G | CA384414799 | LRRK2 | c.3248C>G (p.Pro1083Arg) c.*2157C>G (n.*2157C>G) c.2993C>G (p.Pro998Arg) c.292C>G c.2045C>G (p.Pro682Arg) c.164C>G (p.Pro55Arg) n.3490C>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.40298394C>T | CA384414800 | LRRK2 | c.3248C>T (p.Pro1083Leu) c.*2157C>T (n.*2157C>T) c.2993C>T (p.Pro998Leu) c.292C>T c.2045C>T (p.Pro682Leu) c.164C>T (p.Pro55Leu) n.3490C>T | dbSNP |
| 12 | g.40298395A= | CA2030982821 | LRRK2 | c.3249A= (p.Pro1083=) c.*2158A= (n.*2158A=) c.2994A= (p.Pro998=) c.293A= c.2046A= (p.Pro682=) c.165A= (p.Pro55=) n.3491A= | |
| 12 | g.40298395A>C | CA479391237 | LRRK2 | c.3249A>C (p.Pro1083=) c.*2158A>C (n.*2158A>C) c.2994A>C (p.Pro998=) c.293A>C c.2046A>C (p.Pro682=) c.165A>C (p.Pro55=) n.3491A>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.40298395A>G | CA479391238 | LRRK2 | c.3249A>G (p.Pro1083=) c.*2158A>G (n.*2158A>G) c.2994A>G (p.Pro998=) c.293A>G c.2046A>G (p.Pro682=) c.165A>G (p.Pro55=) n.3491A>G | gnomAD v4 |
| 12 | g.40298395A>T | CA479391239 | LRRK2 | c.3249A>T (p.Pro1083=) c.*2158A>T (n.*2158A>T) c.2994A>T (p.Pro998=) c.293A>T c.2046A>T (p.Pro682=) c.165A>T (p.Pro55=) n.3491A>T | |
| 12 | g.40298396A>C | CA384414805 | LRRK2 | c.3250A>C (p.Thr1084Pro) c.*2159A>C (n.*2159A>C) c.2995A>C (p.Thr999Pro) c.294A>C c.2047A>C (p.Thr683Pro) c.166A>C (p.Thr56Pro) n.3492A>C | gnomAD v4 |
| 12 | g.40298396A>G | CA384414801 | LRRK2 | c.3250A>G (p.Thr1084Ala) c.*2159A>G (n.*2159A>G) c.2995A>G (p.Thr999Ala) c.294A>G c.2047A>G (p.Thr683Ala) c.166A>G (p.Thr56Ala) n.3492A>G | ClinVar |
| 12 | g.40298396A>T | CA384414803 | LRRK2 | c.3250A>T (p.Thr1084Ser) c.*2159A>T (n.*2159A>T) c.2995A>T (p.Thr999Ser) c.294A>T c.2047A>T (p.Thr683Ser) c.166A>T (p.Thr56Ser) n.3492A>T | |
| 12 | g.40298397C>A | CA384414807 | LRRK2 | c.3251C>A (p.Thr1084Asn) c.*2160C>A (n.*2160C>A) c.2996C>A (p.Thr999Asn) c.295C>A c.2048C>A (p.Thr683Asn) c.167C>A (p.Thr56Asn) n.3493C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.40298397C= | CA2030982822 | LRRK2 | c.3251C= (p.Thr1084=) c.*2160C= (n.*2160C=) c.2996C= (p.Thr999=) c.295C= c.2048C= (p.Thr683=) c.167C= (p.Thr56=) n.3493C= | |
| 12 | g.40298397C>G | CA384414815 | LRRK2 | c.3251C>G (p.Thr1084Ser) c.*2160C>G (n.*2160C>G) c.2996C>G (p.Thr999Ser) c.295C>G c.2048C>G (p.Thr683Ser) c.167C>G (p.Thr56Ser) n.3493C>G | |
| 12 | g.40298397C>T | CA384414818 | LRRK2 | c.3251C>T (p.Thr1084Ile) c.*2160C>T (n.*2160C>T) c.2996C>T (p.Thr999Ile) c.295C>T c.2048C>T (p.Thr683Ile) c.167C>T (p.Thr56Ile) n.3493C>T | |
| 12 | g.40298398T>A | CA479391240 | LRRK2 | c.3252T>A (p.Thr1084=) c.*2161T>A (n.*2161T>A) c.2997T>A (p.Thr999=) c.296T>A c.2049T>A (p.Thr683=) c.168T>A (p.Thr56=) n.3494T>A | |
| 12 | g.40298398T>C | CA479391241 | LRRK2 | c.3252T>C (p.Thr1084=) c.*2161T>C (n.*2161T>C) c.2997T>C (p.Thr999=) c.296T>C c.2049T>C (p.Thr683=) c.168T>C (p.Thr56=) n.3494T>C | gnomAD v4 |
| 12 | g.40298398T>G | CA479391242 | LRRK2 | c.3252T>G (p.Thr1084=) c.*2161T>G (n.*2161T>G) c.2997T>G (p.Thr999=) c.296T>G c.2049T>G (p.Thr683=) c.168T>G (p.Thr56=) n.3494T>G | |
| 12 | g.40298399C>A | CA384414821 | LRRK2 | c.3253C>A (p.Leu1085Met) c.*2162C>A (n.*2162C>A) c.2998C>A (p.Leu1000Met) c.297C>A c.2050C>A (p.Leu684Met) c.169C>A (p.Leu57Met) n.3495C>A | |
| 12 | g.40298399C>G | CA384414823 | LRRK2 | c.3253C>G (p.Leu1085Val) c.*2162C>G (n.*2162C>G) c.2998C>G (p.Leu1000Val) c.297C>G c.2050C>G (p.Leu684Val) c.169C>G (p.Leu57Val) n.3495C>G | |
| 12 | g.40298399C>T | CA479391244 | LRRK2 | c.3253C>T (p.Leu1085=) c.*2162C>T (n.*2162C>T) c.2998C>T (p.Leu1000=) c.297C>T c.2050C>T (p.Leu684=) c.169C>T (p.Leu57=) n.3495C>T | |
| 12 | g.40298400T>A | CA384414826 | LRRK2 | c.3254T>A (p.Leu1085Gln) c.*2163T>A (n.*2163T>A) c.2999T>A (p.Leu1000Gln) c.298T>A c.2051T>A (p.Leu684Gln) c.170T>A (p.Leu57Gln) n.3496T>A | |
| 12 | g.40298400T>C | CA384414831 | LRRK2 | c.3254T>C (p.Leu1085Pro) c.*2163T>C (n.*2163T>C) c.2999T>C (p.Leu1000Pro) c.298T>C c.2051T>C (p.Leu684Pro) c.170T>C (p.Leu57Pro) n.3496T>C | ClinVar |
| 12 | g.40298400T>G | CA384414828 | LRRK2 | c.3254T>G (p.Leu1085Arg) c.*2163T>G (n.*2163T>G) c.2999T>G (p.Leu1000Arg) c.298T>G c.2051T>G (p.Leu684Arg) c.170T>G (p.Leu57Arg) n.3496T>G | ClinVar |
| 12 | g.40298401G>A | CA479391246 | LRRK2 | c.3255G>A (p.Leu1085=) c.*2164G>A (n.*2164G>A) c.3000G>A (p.Leu1000=) c.299G>A c.2052G>A (p.Leu684=) c.171G>A (p.Leu57=) n.3497G>A | |
| 12 | g.40298401G>C | CA479391247 | LRRK2 | c.3255G>C (p.Leu1085=) c.*2164G>C (n.*2164G>C) c.3000G>C (p.Leu1000=) c.299G>C c.2052G>C (p.Leu684=) c.171G>C (p.Leu57=) n.3497G>C | |
| 12 | g.40298401G>T | CA479391248 | LRRK2 | c.3255G>T (p.Leu1085=) c.*2164G>T (n.*2164G>T) c.3000G>T (p.Leu1000=) c.299G>T c.2052G>T (p.Leu684=) c.171G>T (p.Leu57=) n.3497G>T | |
| 12 | g.40298402A>C | CA384414833 | LRRK2 | c.3256A>C (p.Lys1086Gln) c.*2165A>C (n.*2165A>C) c.3001A>C (p.Lys1001Gln) c.300A>C c.2053A>C (p.Lys685Gln) c.172A>C (p.Lys58Gln) n.3498A>C | gnomAD v4 |
| 12 | g.40298402A>G | CA384414835 | LRRK2 | c.3256A>G (p.Lys1086Glu) c.*2165A>G (n.*2165A>G) c.3001A>G (p.Lys1001Glu) c.300A>G c.2053A>G (p.Lys685Glu) c.172A>G (p.Lys58Glu) n.3498A>G | |
| 12 | g.40298402A>T | CA384414837 | LRRK2 | c.3256A>T (p.Lys1086Ter) c.*2165A>T (n.*2165A>T) c.3001A>T (p.Lys1001Ter) c.300A>T c.2053A>T (p.Lys685Ter) c.172A>T (p.Lys58Ter) n.3498A>T | |
| 12 | g.40298403A= | CA2030982823 | LRRK2 | c.3257A= (p.Lys1086=) c.*2166A= (n.*2166A=) c.3002A= (p.Lys1001=) c.301A= c.2054A= (p.Lys685=) c.173A= (p.Lys58=) n.3499A= | |
| 12 | g.40298403A>C | CA384414841 | LRRK2 | c.3257A>C (p.Lys1086Thr) c.*2166A>C (n.*2166A>C) c.3002A>C (p.Lys1001Thr) c.301A>C c.2054A>C (p.Lys685Thr) c.173A>C (p.Lys58Thr) n.3499A>C | |
| 12 | g.40298403A>G | CA384414842 | LRRK2 | c.3257A>G (p.Lys1086Arg) c.*2166A>G (n.*2166A>G) c.3002A>G (p.Lys1001Arg) c.301A>G c.2054A>G (p.Lys685Arg) c.173A>G (p.Lys58Arg) n.3499A>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.40298403A>T | CA384414843 | LRRK2 | c.3257A>T (p.Lys1086Ile) c.*2166A>T (n.*2166A>T) c.3002A>T (p.Lys1001Ile) c.301A>T c.2054A>T (p.Lys685Ile) c.173A>T (p.Lys58Ile) n.3499A>T | |
| 12 | g.40298404A>C | CA384414844 | LRRK2 | c.3258A>C (p.Lys1086Asn) c.*2167A>C (n.*2167A>C) c.3003A>C (p.Lys1001Asn) c.302A>C c.2055A>C (p.Lys685Asn) c.174A>C (p.Lys58Asn) n.3500A>C | |
| 12 | g.40298404A>G | CA479391249 | LRRK2 | c.3258A>G (p.Lys1086=) c.*2167A>G (n.*2167A>G) c.3003A>G (p.Lys1001=) c.302A>G c.2055A>G (p.Lys685=) c.174A>G (p.Lys58=) n.3500A>G | |
| 12 | g.40298404A>T | CA384414845 | LRRK2 | c.3258A>T (p.Lys1086Asn) c.*2167A>T (n.*2167A>T) c.3003A>T (p.Lys1001Asn) c.302A>T c.2055A>T (p.Lys685Asn) c.174A>T (p.Lys58Asn) n.3500A>T | |
| 12 | g.40298405C>A | CA384414846 | LRRK2 | c.3259C>A (p.Gln1087Lys) c.*2168C>A (n.*2168C>A) c.3004C>A (p.Gln1002Lys) c.303C>A c.2056C>A (p.Gln686Lys) c.175C>A (p.Gln59Lys) n.3501C>A | |
| 12 | g.40298405C= | CA2030982824 | LRRK2 | c.3259C= (p.Gln1087=) c.*2168C= (n.*2168C=) c.3004C= (p.Gln1002=) c.303C= c.2056C= (p.Gln686=) c.175C= (p.Gln59=) n.3501C= | |
| 12 | g.40298405C>G | CA384414848 | LRRK2 | c.3259C>G (p.Gln1087Glu) c.*2168C>G (n.*2168C>G) c.3004C>G (p.Gln1002Glu) c.303C>G c.2056C>G (p.Gln686Glu) c.175C>G (p.Gln59Glu) n.3501C>G | |
| 12 | g.40298405C>T | CA384414851 | LRRK2 | c.3259C>T (p.Gln1087Ter) c.*2168C>T (n.*2168C>T) c.3004C>T (p.Gln1002Ter) c.303C>T c.2056C>T (p.Gln686Ter) c.175C>T (p.Gln59Ter) n.3501C>T | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.40298406A= | CA2030982825 | LRRK2 | c.3260A= (p.Gln1087=) c.*2169A= (n.*2169A=) c.3005A= (p.Gln1002=) c.304A= c.2057A= (p.Gln686=) c.176A= (p.Gln59=) n.3502A= | |
| 12 | g.40298406A>C | CA384414853 | LRRK2 | c.3260A>C (p.Gln1087Pro) c.*2169A>C (n.*2169A>C) c.3005A>C (p.Gln1002Pro) c.304A>C c.2057A>C (p.Gln686Pro) c.176A>C (p.Gln59Pro) n.3502A>C | |
| 12 | g.40298406A>G | CA6513859 | LRRK2 | c.3260A>G (p.Gln1087Arg) c.*2169A>G (n.*2169A>G) c.3005A>G (p.Gln1002Arg) c.304A>G c.2057A>G (p.Gln686Arg) c.176A>G (p.Gln59Arg) n.3502A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.40298406A>T | CA384414856 | LRRK2 | c.3260A>T (p.Gln1087Leu) c.*2169A>T (n.*2169A>T) c.3005A>T (p.Gln1002Leu) c.304A>T c.2057A>T (p.Gln686Leu) c.176A>T (p.Gln59Leu) n.3502A>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.40298407G>A | CA479391252 | LRRK2 | c.3261G>A (p.Gln1087=) c.*2170G>A (n.*2170G>A) c.3006G>A (p.Gln1002=) c.305G>A c.2058G>A (p.Gln686=) c.177G>A (p.Gln59=) n.3503G>A | |
| 12 | g.40298407G>C | CA384414862 | LRRK2 | c.3261G>C (p.Gln1087His) c.*2170G>C (n.*2170G>C) c.3006G>C (p.Gln1002His) c.305G>C c.2058G>C (p.Gln686His) c.177G>C (p.Gln59His) n.3503G>C | |
| 12 | g.40298407G>T | CA384414864 | LRRK2 | c.3261G>T (p.Gln1087His) c.*2170G>T (n.*2170G>T) c.3006G>T (p.Gln1002His) c.305G>T c.2058G>T (p.Gln686His) c.177G>T (p.Gln59His) n.3503G>T | |
| 12 | g.40298408T>A | CA235348739 | LRRK2 | c.3262T>A (p.Phe1088Ile) c.*2171T>A (n.*2171T>A) c.3007T>A (p.Phe1003Ile) c.306T>A c.2059T>A (p.Phe687Ile) c.178T>A (p.Phe60Ile) n.3504T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40298408T>C | CA384414868 | LRRK2 | c.3262T>C (p.Phe1088Leu) c.*2171T>C (n.*2171T>C) c.3007T>C (p.Phe1003Leu) c.306T>C c.2059T>C (p.Phe687Leu) c.178T>C (p.Phe60Leu) n.3504T>C | |
| 12 | g.40298408T>G | CA384414870 | LRRK2 | c.3262T>G (p.Phe1088Val) c.*2171T>G (n.*2171T>G) c.3007T>G (p.Phe1003Val) c.306T>G c.2059T>G (p.Phe687Val) c.178T>G (p.Phe60Val) n.3504T>G | |
| 12 | g.40298408T= | CA2030982826 | LRRK2 | c.3262T= (p.Phe1088=) c.*2171T= (n.*2171T=) c.3007T= (p.Phe1003=) c.306T= c.2059T= (p.Phe687=) c.178T= (p.Phe60=) n.3504T= | |
| 12 | g.40298409T>A | CA384414873 | LRRK2 | c.3263T>A (p.Phe1088Tyr) c.*2172T>A (n.*2172T>A) c.3008T>A (p.Phe1003Tyr) c.307T>A c.2060T>A (p.Phe687Tyr) c.179T>A (p.Phe60Tyr) n.3505T>A | |
| 12 | g.40298409T>C | CA384414876 | LRRK2 | c.3263T>C (p.Phe1088Ser) c.*2172T>C (n.*2172T>C) c.3008T>C (p.Phe1003Ser) c.307T>C c.2060T>C (p.Phe687Ser) c.179T>C (p.Phe60Ser) n.3505T>C | COSMIC COSMIC |
| 12 | g.40298409T>G | CA384414877 | LRRK2 | c.3263T>G (p.Phe1088Cys) c.*2172T>G (n.*2172T>G) c.3008T>G (p.Phe1003Cys) c.307T>G c.2060T>G (p.Phe687Cys) c.179T>G (p.Phe60Cys) n.3505T>G | |
| 12 | g.40298410T>A | CA384414886 | LRRK2 | c.3264T>A (p.Phe1088Leu) c.*2173T>A (n.*2173T>A) c.3009T>A (p.Phe1003Leu) c.308T>A c.2061T>A (p.Phe687Leu) c.180T>A (p.Phe60Leu) n.3506T>A | |
| 12 | g.40298410T>C | CA479391254 | LRRK2 | c.3264T>C (p.Phe1088=) c.*2173T>C (n.*2173T>C) c.3009T>C (p.Phe1003=) c.308T>C c.2061T>C (p.Phe687=) c.180T>C (p.Phe60=) n.3506T>C | |
| 12 | g.40298410T>G | CA384414889 | LRRK2 | c.3264T>G (p.Phe1088Leu) c.*2173T>G (n.*2173T>G) c.3009T>G (p.Phe1003Leu) c.308T>G c.2061T>G (p.Phe687Leu) c.180T>G (p.Phe60Leu) n.3506T>G | |
| 12 | g.40298411A= | CA2030982827 | LRRK2 | c.3265A= (p.Asn1089=) c.*2174A= (n.*2174A=) c.3010A= (p.Asn1004=) c.309A= c.2062A= (p.Asn688=) c.181A= (p.Asn61=) n.3507A= | |
| 12 | g.40298411A>C | CA235348744 | LRRK2 | c.3265A>C (p.Asn1089His) c.*2174A>C (n.*2174A>C) c.3010A>C (p.Asn1004His) c.309A>C c.2062A>C (p.Asn688His) c.181A>C (p.Asn61His) n.3507A>C | dbSNP |
| 12 | g.40298411A>G | CA384414895 | LRRK2 | c.3265A>G (p.Asn1089Asp) c.*2174A>G (n.*2174A>G) c.3010A>G (p.Asn1004Asp) c.309A>G c.2062A>G (p.Asn688Asp) c.181A>G (p.Asn61Asp) n.3507A>G | |
| 12 | g.40298411A>T | CA384414898 | LRRK2 | c.3265A>T (p.Asn1089Tyr) c.*2174A>T (n.*2174A>T) c.3010A>T (p.Asn1004Tyr) c.309A>T c.2062A>T (p.Asn688Tyr) c.181A>T (p.Asn61Tyr) n.3507A>T | |
| 12 | g.40298412A>C | CA384414906 | LRRK2 | c.3266A>C (p.Asn1089Thr) c.*2175A>C (n.*2175A>C) c.3011A>C (p.Asn1004Thr) c.310A>C c.2063A>C (p.Asn688Thr) c.182A>C (p.Asn61Thr) n.3508A>C | |
| 12 | g.40298412A>G | CA384414901 | LRRK2 | c.3266A>G (p.Asn1089Ser) c.*2175A>G (n.*2175A>G) c.3011A>G (p.Asn1004Ser) c.310A>G c.2063A>G (p.Asn688Ser) c.182A>G (p.Asn61Ser) n.3508A>G | COSMIC COSMIC |
| 12 | g.40298412A>T | CA384414905 | LRRK2 | c.3266A>T (p.Asn1089Ile) c.*2175A>T (n.*2175A>T) c.3011A>T (p.Asn1004Ile) c.310A>T c.2063A>T (p.Asn688Ile) c.182A>T (p.Asn61Ile) n.3508A>T | |
| 12 | g.40298413C>A | CA384414908 | LRRK2 | c.3267C>A (p.Asn1089Lys) c.*2176C>A (n.*2176C>A) c.3012C>A (p.Asn1004Lys) c.311C>A c.2064C>A (p.Asn688Lys) c.183C>A (p.Asn61Lys) n.3509C>A | ClinVar gnomAD v4 |
| 12 | g.40298413C>G | CA384414911 | LRRK2 | c.3267C>G (p.Asn1089Lys) c.*2176C>G (n.*2176C>G) c.3012C>G (p.Asn1004Lys) c.311C>G c.2064C>G (p.Asn688Lys) c.183C>G (p.Asn61Lys) n.3509C>G | |
| 12 | g.40298413C>T | CA479391255 | LRRK2 | c.3267C>T (p.Asn1089=) c.*2176C>T (n.*2176C>T) c.3012C>T (p.Asn1004=) c.311C>T c.2064C>T (p.Asn688=) c.183C>T (p.Asn61=) n.3509C>T | |
| 12 | g.40298414C>A | CA384414916 | LRRK2 | c.3268C>A (p.Leu1090Met) c.*2177C>A (n.*2177C>A) c.3013C>A (p.Leu1005Met) c.312C>A c.2065C>A (p.Leu689Met) c.184C>A (p.Leu62Met) n.3510C>A | ClinVar |
| 12 | g.40298414C= | CA2030982828 | LRRK2 | c.3268C= (p.Leu1090=) c.*2177C= (n.*2177C=) c.3013C= (p.Leu1005=) c.312C= c.2065C= (p.Leu689=) c.184C= (p.Leu62=) n.3510C= | |
| 12 | g.40298414C>G | CA384414919 | LRRK2 | c.3268C>G (p.Leu1090Val) c.*2177C>G (n.*2177C>G) c.3013C>G (p.Leu1005Val) c.312C>G c.2065C>G (p.Leu689Val) c.184C>G (p.Leu62Val) n.3510C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40298414C>T | CA479391256 | LRRK2 | c.3268C>T (p.Leu1090=) c.*2177C>T (n.*2177C>T) c.3013C>T (p.Leu1005=) c.312C>T c.2065C>T (p.Leu689=) c.184C>T (p.Leu62=) n.3510C>T | |
| 12 | g.40298415T>A | CA384414921 | LRRK2 | c.3269T>A (p.Leu1090Gln) c.*2178T>A (n.*2178T>A) c.3014T>A (p.Leu1005Gln) c.313T>A c.2066T>A (p.Leu689Gln) c.185T>A (p.Leu62Gln) n.3511T>A | gnomAD v4 |
| 12 | g.40298415T>C | CA384414922 | LRRK2 | c.3269T>C (p.Leu1090Pro) c.*2178T>C (n.*2178T>C) c.3014T>C (p.Leu1005Pro) c.313T>C c.2066T>C (p.Leu689Pro) c.185T>C (p.Leu62Pro) n.3511T>C | gnomAD v4 |
| 12 | g.40298415T>G | CA384414924 | LRRK2 | c.3269T>G (p.Leu1090Arg) c.*2178T>G (n.*2178T>G) c.3014T>G (p.Leu1005Arg) c.313T>G c.2066T>G (p.Leu689Arg) c.185T>G (p.Leu62Arg) n.3511T>G | |
| 12 | g.40298416G>A | CA479391260 | LRRK2 | c.3270G>A (p.Leu1090=) c.*2179G>A (n.*2179G>A) c.3015G>A (p.Leu1005=) c.314G>A c.2067G>A (p.Leu689=) c.186G>A (p.Leu62=) n.3512G>A | |
| 12 | g.40298416G>C | CA479391259 | LRRK2 | c.3270G>C (p.Leu1090=) c.*2179G>C (n.*2179G>C) c.3015G>C (p.Leu1005=) c.314G>C c.2067G>C (p.Leu689=) c.186G>C (p.Leu62=) n.3512G>C | |
| 12 | g.40298416G>T | CA479391258 | LRRK2 | c.3270G>T (p.Leu1090=) c.*2179G>T (n.*2179G>T) c.3015G>T (p.Leu1005=) c.314G>T c.2067G>T (p.Leu689=) c.186G>T (p.Leu62=) n.3512G>T | |
| 12 | g.40298417T>A | CA384414927 | LRRK2 | c.3271T>A (p.Ser1091Thr) c.*2180T>A (n.*2180T>A) c.3016T>A (p.Ser1006Thr) c.315T>A c.2068T>A (p.Ser690Thr) c.187T>A (p.Ser63Thr) n.3513T>A | |
| 12 | g.40298417T>C | CA384414929 | LRRK2 | c.3271T>C (p.Ser1091Pro) c.*2180T>C (n.*2180T>C) c.3016T>C (p.Ser1006Pro) c.315T>C c.2068T>C (p.Ser690Pro) c.187T>C (p.Ser63Pro) n.3513T>C | |
| 12 | g.40298417T>G | CA384414932 | LRRK2 | c.3271T>G (p.Ser1091Ala) c.*2180T>G (n.*2180T>G) c.3016T>G (p.Ser1006Ala) c.315T>G c.2068T>G (p.Ser690Ala) c.187T>G (p.Ser63Ala) n.3513T>G | ClinVar |
| 12 | g.40298418C>A | CA384414937 | LRRK2 | c.3272C>A (p.Ser1091Ter) c.*2181C>A (n.*2181C>A) c.3017C>A (p.Ser1006Ter) c.316C>A c.2069C>A (p.Ser690Ter) c.188C>A (p.Ser63Ter) n.3514C>A | |
| 12 | g.40298418C>G | CA384414940 | LRRK2 | c.3272C>G (p.Ser1091Ter) c.*2181C>G (n.*2181C>G) c.3017C>G (p.Ser1006Ter) c.316C>G c.2069C>G (p.Ser690Ter) c.188C>G (p.Ser63Ter) n.3514C>G | gnomAD v4 |
| 12 | g.40298418C>T | CA384414935 | LRRK2 | c.3272C>T (p.Ser1091Leu) c.*2181C>T (n.*2181C>T) c.3017C>T (p.Ser1006Leu) c.316C>T c.2069C>T (p.Ser690Leu) c.188C>T (p.Ser63Leu) n.3514C>T | |
| 12 | g.40298419A= | CA2030982829 | LRRK2 | c.3273A= (p.Ser1091=) c.*2182A= (n.*2182A=) c.3018A= (p.Ser1006=) c.317A= c.2070A= (p.Ser690=) c.189A= (p.Ser63=) n.3515A= | |
| 12 | g.40298419A>C | CA479391261 | LRRK2 | c.3273A>C (p.Ser1091=) c.*2182A>C (n.*2182A>C) c.3018A>C (p.Ser1006=) c.317A>C c.2070A>C (p.Ser690=) c.189A>C (p.Ser63=) n.3515A>C | |
| 12 | g.40298419A>G | CA235348749 | LRRK2 | c.3273A>G (p.Ser1091=) c.*2182A>G (n.*2182A>G) c.3018A>G (p.Ser1006=) c.317A>G c.2070A>G (p.Ser690=) c.189A>G (p.Ser63=) n.3515A>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.40298419A>T | CA479391262 | LRRK2 | c.3273A>T (p.Ser1091=) c.*2182A>T (n.*2182A>T) c.3018A>T (p.Ser1006=) c.317A>T c.2070A>T (p.Ser690=) c.189A>T (p.Ser63=) n.3515A>T | |
| 12 | g.40298420T>A | CA384414945 | LRRK2 | c.3274T>A (p.Tyr1092Asn) c.*2183T>A (n.*2183T>A) c.3019T>A (p.Tyr1007Asn) c.318T>A c.2071T>A (p.Tyr691Asn) c.190T>A (p.Tyr64Asn) n.3516T>A | ClinVar |
| 12 | g.40298420T>C | CA384414946 | LRRK2 | c.3274T>C (p.Tyr1092His) c.*2183T>C (n.*2183T>C) c.3019T>C (p.Tyr1007His) c.318T>C c.2071T>C (p.Tyr691His) c.190T>C (p.Tyr64His) n.3516T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.40298420T>G | CA384414947 | LRRK2 | c.3274T>G (p.Tyr1092Asp) c.*2183T>G (n.*2183T>G) c.3019T>G (p.Tyr1007Asp) c.318T>G c.2071T>G (p.Tyr691Asp) c.190T>G (p.Tyr64Asp) n.3516T>G | |
| 12 | g.40298420T= | CA2030982830 | LRRK2 | c.3274T= (p.Tyr1092=) c.*2183T= (n.*2183T=) c.3019T= (p.Tyr1007=) c.318T= c.2071T= (p.Tyr691=) c.190T= (p.Tyr64=) n.3516T= | |
| 12 | g.40298421A>C | CA384414948 | LRRK2 | c.3275A>C (p.Tyr1092Ser) c.*2184A>C (n.*2184A>C) c.3020A>C (p.Tyr1007Ser) c.319A>C c.2072A>C (p.Tyr691Ser) c.191A>C (p.Tyr64Ser) n.3517A>C | |
| 12 | g.40298421A>G | CA384414949 | LRRK2 | c.3275A>G (p.Tyr1092Cys) c.*2184A>G (n.*2184A>G) c.3020A>G (p.Tyr1007Cys) c.319A>G c.2072A>G (p.Tyr691Cys) c.191A>G (p.Tyr64Cys) n.3517A>G | ClinVar gnomAD v4 |
| 12 | g.40298421A>T | CA384414950 | LRRK2 | c.3275A>T (p.Tyr1092Phe) c.*2184A>T (n.*2184A>T) c.3020A>T (p.Tyr1007Phe) c.319A>T c.2072A>T (p.Tyr691Phe) c.191A>T (p.Tyr64Phe) n.3517A>T | |
| 12 | g.40298422T>A | CA384414951 | LRRK2 | c.3276T>A (p.Tyr1092Ter) c.*2185T>A (n.*2185T>A) c.3021T>A (p.Tyr1007Ter) c.320T>A c.2073T>A (p.Tyr691Ter) c.192T>A (p.Tyr64Ter) n.3518T>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.40298422T>C | CA479391264 | LRRK2 | c.3276T>C (p.Tyr1092=) c.*2185T>C (n.*2185T>C) c.3021T>C (p.Tyr1007=) c.320T>C c.2073T>C (p.Tyr691=) c.192T>C (p.Tyr64=) n.3518T>C | |
| 12 | g.40298422T>G | CA384414952 | LRRK2 | c.3276T>G (p.Tyr1092Ter) c.*2185T>G (n.*2185T>G) c.3021T>G (p.Tyr1007Ter) c.320T>G c.2073T>G (p.Tyr691Ter) c.192T>G (p.Tyr64Ter) n.3518T>G | |
| 12 | g.40298422T= | CA2030982831 | LRRK2 | c.3276T= (p.Tyr1092=) c.*2185T= (n.*2185T=) c.3021T= (p.Tyr1007=) c.320T= c.2073T= (p.Tyr691=) c.192T= (p.Tyr64=) n.3518T= | |
| 12 | g.40298423A>C | CA384414955 | LRRK2 | c.3277A>C (p.Asn1093His) c.*2186A>C (n.*2186A>C) c.3022A>C (p.Asn1008His) c.321A>C c.2074A>C (p.Asn692His) c.193A>C (p.Asn65His) n.3519A>C | |
| 12 | g.40298423A>G | CA384414956 | LRRK2 | c.3277A>G (p.Asn1093Asp) c.*2186A>G (n.*2186A>G) c.3022A>G (p.Asn1008Asp) c.321A>G c.2074A>G (p.Asn692Asp) c.193A>G (p.Asn65Asp) n.3519A>G | |
| 12 | g.40298423A>T | CA384414958 | LRRK2 | c.3277A>T (p.Asn1093Tyr) c.*2186A>T (n.*2186A>T) c.3022A>T (p.Asn1008Tyr) c.321A>T c.2074A>T (p.Asn692Tyr) c.193A>T (p.Asn65Tyr) n.3519A>T | |
| 12 | g.40298424A>C | CA384414967 | LRRK2 | c.3278A>C (p.Asn1093Thr) c.*2187A>C (n.*2187A>C) c.3023A>C (p.Asn1008Thr) c.322A>C c.2075A>C (p.Asn692Thr) c.194A>C (p.Asn65Thr) n.3520A>C | |
| 12 | g.40298424A>G | CA384414961 | LRRK2 | c.3278A>G (p.Asn1093Ser) c.*2187A>G (n.*2187A>G) c.3023A>G (p.Asn1008Ser) c.322A>G c.2075A>G (p.Asn692Ser) c.194A>G (p.Asn65Ser) n.3520A>G | |
| 12 | g.40298424A>T | CA384414965 | LRRK2 | c.3278A>T (p.Asn1093Ile) c.*2187A>T (n.*2187A>T) c.3023A>T (p.Asn1008Ile) c.322A>T c.2075A>T (p.Asn692Ile) c.194A>T (p.Asn65Ile) n.3520A>T | |
| 12 | g.40298425C>A | CA384414970 | LRRK2 | c.3279C>A (p.Asn1093Lys) c.*2188C>A (n.*2188C>A) c.3024C>A (p.Asn1008Lys) c.323C>A c.2076C>A (p.Asn692Lys) c.195C>A (p.Asn65Lys) n.3521C>A | |
| 12 | g.40298425C= | CA2030982832 | LRRK2 | c.3279C= (p.Asn1093=) c.*2188C= (n.*2188C=) c.3024C= (p.Asn1008=) c.323C= c.2076C= (p.Asn692=) c.195C= (p.Asn65=) n.3521C= | |
| 12 | g.40298425C>G | CA384414972 | LRRK2 | c.3279C>G (p.Asn1093Lys) c.*2188C>G (n.*2188C>G) c.3024C>G (p.Asn1008Lys) c.323C>G c.2076C>G (p.Asn692Lys) c.195C>G (p.Asn65Lys) n.3521C>G | |
| 12 | g.40298425C>T | CA6513860 | LRRK2 | c.3279C>T (p.Asn1093=) c.*2188C>T (n.*2188C>T) c.3024C>T (p.Asn1008=) c.323C>T c.2076C>T (p.Asn692=) c.195C>T (p.Asn65=) n.3521C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40298426C>A | CA384414981 | LRRK2 | c.3280C>A (p.Gln1094Lys) c.*2189C>A (n.*2189C>A) c.3025C>A (p.Gln1009Lys) c.324C>A c.2077C>A (p.Gln693Lys) c.196C>A (p.Gln66Lys) n.3522C>A | |
| 12 | g.40298426C>G | CA384414983 | LRRK2 | c.3280C>G (p.Gln1094Glu) c.*2189C>G (n.*2189C>G) c.3025C>G (p.Gln1009Glu) c.324C>G c.2077C>G (p.Gln693Glu) c.196C>G (p.Gln66Glu) n.3522C>G | gnomAD v4 |
| 12 | g.40298426C>T | CA384414984 | LRRK2 | c.3280C>T (p.Gln1094Ter) c.*2189C>T (n.*2189C>T) c.3025C>T (p.Gln1009Ter) c.324C>T c.2077C>T (p.Gln693Ter) c.196C>T (p.Gln66Ter) n.3522C>T | |
| 12 | g.40298427A>C | CA384414988 | LRRK2 | c.3281A>C (p.Gln1094Pro) c.*2190A>C (n.*2190A>C) c.3026A>C (p.Gln1009Pro) c.325A>C c.2078A>C (p.Gln693Pro) c.197A>C (p.Gln66Pro) n.3523A>C | |
| 12 | g.40298427A>G | CA384414991 | LRRK2 | c.3281A>G (p.Gln1094Arg) c.*2190A>G (n.*2190A>G) c.3026A>G (p.Gln1009Arg) c.325A>G c.2078A>G (p.Gln693Arg) c.197A>G (p.Gln66Arg) n.3523A>G | |
| 12 | g.40298427A>T | CA384414993 | LRRK2 | c.3281A>T (p.Gln1094Leu) c.*2190A>T (n.*2190A>T) c.3026A>T (p.Gln1009Leu) c.325A>T c.2078A>T (p.Gln693Leu) c.197A>T (p.Gln66Leu) n.3523A>T | |
| 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.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 | |
| 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 | 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 |