| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.40298379C>A | CA384414720 | LRRK2 | c.3233C>A (p.Pro1078His) c.*2142C>A (n.*2142C>A) c.2978C>A (p.Pro993His) c.277C>A c.2030C>A (p.Pro677His) c.149C>A (p.Pro50His) n.3475C>A | |
| 12 | g.40298379C>G | CA384414725 | LRRK2 | c.3233C>G (p.Pro1078Arg) c.*2142C>G (n.*2142C>G) c.2978C>G (p.Pro993Arg) c.277C>G c.2030C>G (p.Pro677Arg) c.149C>G (p.Pro50Arg) n.3475C>G | |
| 12 | g.40298379C>T | CA384414723 | LRRK2 | c.3233C>T (p.Pro1078Leu) c.*2142C>T (n.*2142C>T) c.2978C>T (p.Pro993Leu) c.277C>T c.2030C>T (p.Pro677Leu) c.149C>T (p.Pro50Leu) n.3475C>T | gnomAD v4 COSMIC COSMIC |
| 12 | g.40298380T>A | CA479391223 | LRRK2 | c.3234T>A (p.Pro1078=) c.*2143T>A (n.*2143T>A) c.2979T>A (p.Pro993=) c.278T>A c.2031T>A (p.Pro677=) c.150T>A (p.Pro50=) n.3476T>A | |
| 12 | g.40298380T>C | CA479391222 | LRRK2 | c.3234T>C (p.Pro1078=) c.*2143T>C (n.*2143T>C) c.2979T>C (p.Pro993=) c.278T>C c.2031T>C (p.Pro677=) c.150T>C (p.Pro50=) n.3476T>C | |
| 12 | g.40298380T>G | CA479391221 | LRRK2 | c.3234T>G (p.Pro1078=) c.*2143T>G (n.*2143T>G) c.2979T>G (p.Pro993=) c.278T>G c.2031T>G (p.Pro677=) c.150T>G (p.Pro50=) n.3476T>G | |
| 12 | g.40298381A= | CA2030982814 | LRRK2 | c.3235A= (p.Thr1079=) c.*2144A= (n.*2144A=) c.2980A= (p.Thr994=) c.279A= c.2032A= (p.Thr678=) c.151A= (p.Thr51=) n.3477A= | |
| 12 | g.40298381A>C | CA384414728 | LRRK2 | c.3235A>C (p.Thr1079Pro) c.*2144A>C (n.*2144A>C) c.2980A>C (p.Thr994Pro) c.279A>C c.2032A>C (p.Thr678Pro) c.151A>C (p.Thr51Pro) n.3477A>C | |
| 12 | g.40298381A>G | CA384414734 | LRRK2 | c.3235A>G (p.Thr1079Ala) c.*2144A>G (n.*2144A>G) c.2980A>G (p.Thr994Ala) c.279A>G c.2032A>G (p.Thr678Ala) c.151A>G (p.Thr51Ala) n.3477A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.40298381A>T | CA384414736 | LRRK2 | c.3235A>T (p.Thr1079Ser) c.*2144A>T (n.*2144A>T) c.2980A>T (p.Thr994Ser) c.279A>T c.2032A>T (p.Thr678Ser) c.151A>T (p.Thr51Ser) n.3477A>T | |
| 12 | g.40298382C>A | CA384414739 | LRRK2 | c.3236C>A (p.Thr1079Lys) c.*2145C>A (n.*2145C>A) c.2981C>A (p.Thr994Lys) c.280C>A c.2033C>A (p.Thr678Lys) c.152C>A (p.Thr51Lys) n.3478C>A | |
| 12 | g.40298382C>G | CA384414740 | LRRK2 | c.3236C>G (p.Thr1079Arg) c.*2145C>G (n.*2145C>G) c.2981C>G (p.Thr994Arg) c.280C>G c.2033C>G (p.Thr678Arg) c.152C>G (p.Thr51Arg) n.3478C>G | |
| 12 | g.40298382C>T | CA384414743 | LRRK2 | c.3236C>T (p.Thr1079Ile) c.*2145C>T (n.*2145C>T) c.2981C>T (p.Thr994Ile) c.280C>T c.2033C>T (p.Thr678Ile) c.152C>T (p.Thr51Ile) n.3478C>T | |
| 12 | g.40298383A>C | CA479391227 | LRRK2 | c.3237A>C (p.Thr1079=) c.*2146A>C (n.*2146A>C) c.2982A>C (p.Thr994=) c.281A>C c.2034A>C (p.Thr678=) c.153A>C (p.Thr51=) n.3479A>C | |
| 12 | g.40298383A>G | CA479391226 | LRRK2 | c.3237A>G (p.Thr1079=) c.*2146A>G (n.*2146A>G) c.2982A>G (p.Thr994=) c.281A>G c.2034A>G (p.Thr678=) c.153A>G (p.Thr51=) n.3479A>G | |
| 12 | g.40298383A>T | CA479391225 | LRRK2 | c.3237A>T (p.Thr1079=) c.*2146A>T (n.*2146A>T) c.2982A>T (p.Thr994=) c.281A>T c.2034A>T (p.Thr678=) c.153A>T (p.Thr51=) n.3479A>T | |
| 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 |