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.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 |