WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.40299129G>A | CA384415511 | LRRK2 | c.3368G>A (p.Cys1123Tyr) c.*2277G>A (n.*2277G>A) c.3113G>A (p.Cys1038Tyr) c.412G>A n.49G>A c.2165G>A (p.Cys722Tyr) c.284G>A (p.Cys95Tyr) n.3610G>A | |
| 12 | g.40299129G>C | CA384415512 | LRRK2 | c.3368G>C (p.Cys1123Ser) c.*2277G>C (n.*2277G>C) c.3113G>C (p.Cys1038Ser) c.412G>C n.49G>C c.2165G>C (p.Cys722Ser) c.284G>C (p.Cys95Ser) n.3610G>C | |
| 12 | g.40299129G>T | CA384415514 | LRRK2 | c.3368G>T (p.Cys1123Phe) c.*2277G>T (n.*2277G>T) c.3113G>T (p.Cys1038Phe) c.412G>T n.49G>T c.2165G>T (p.Cys722Phe) c.284G>T (p.Cys95Phe) n.3610G>T | ClinVar dbSNP |
| 12 | g.40299130C>A | CA384415515 | LRRK2 | c.3369C>A (p.Cys1123Ter) c.*2278C>A (n.*2278C>A) c.3114C>A (p.Cys1038Ter) c.413C>A n.50C>A c.2166C>A (p.Cys722Ter) c.285C>A (p.Cys95Ter) n.3611C>A | |
| 12 | g.40299130C= | CA2030983877 | LRRK2 | c.3369C= (p.Cys1123=) c.*2278C= (n.*2278C=) c.3114C= (p.Cys1038=) c.413C= n.50C= c.2166C= (p.Cys722=) c.285C= (p.Cys95=) n.3611C= | |
| 12 | g.40299130C>G | CA384415517 | LRRK2 | c.3369C>G (p.Cys1123Trp) c.*2278C>G (n.*2278C>G) c.3114C>G (p.Cys1038Trp) c.413C>G n.50C>G c.2166C>G (p.Cys722Trp) c.285C>G (p.Cys95Trp) n.3611C>G | |
| 12 | g.40299130C>T | CA479251071 | LRRK2 | c.3369C>T (p.Cys1123=) c.*2278C>T (n.*2278C>T) c.3114C>T (p.Cys1038=) c.413C>T n.50C>T c.2166C>T (p.Cys722=) c.285C>T (p.Cys95=) n.3611C>T | dbSNP gnomAD v4 |
| 12 | g.40299131T>A | CA384415518 | LRRK2 | c.3370T>A (p.Ser1124Thr) c.*2279T>A (n.*2279T>A) c.3115T>A (p.Ser1039Thr) c.414T>A n.51T>A c.2167T>A (p.Ser723Thr) c.286T>A (p.Ser96Thr) n.3612T>A | gnomAD v4 |
| 12 | g.40299131T>C | CA384415520 | LRRK2 | c.3370T>C (p.Ser1124Pro) c.*2279T>C (n.*2279T>C) c.3115T>C (p.Ser1039Pro) c.414T>C n.51T>C c.2167T>C (p.Ser723Pro) c.286T>C (p.Ser96Pro) n.3612T>C | |
| 12 | g.40299131T>G | CA384415522 | LRRK2 | c.3370T>G (p.Ser1124Ala) c.*2279T>G (n.*2279T>G) c.3115T>G (p.Ser1039Ala) c.414T>G n.51T>G c.2167T>G (p.Ser723Ala) c.286T>G (p.Ser96Ala) n.3612T>G | |
| 12 | g.40299132C>A | CA384415526 | LRRK2 | c.3371C>A (p.Ser1124Tyr) c.*2280C>A (n.*2280C>A) c.3116C>A (p.Ser1039Tyr) c.415C>A n.52C>A c.2168C>A (p.Ser723Tyr) c.287C>A (p.Ser96Tyr) n.3613C>A | |
| 12 | g.40299132C= | CA2030983882 | LRRK2 | c.3371C= (p.Ser1124=) c.*2280C= (n.*2280C=) c.3116C= (p.Ser1039=) c.415C= n.52C= c.2168C= (p.Ser723=) c.287C= (p.Ser96=) n.3613C= | |
| 12 | g.40299132C>G | CA384415525 | LRRK2 | c.3371C>G (p.Ser1124Cys) c.*2280C>G (n.*2280C>G) c.3116C>G (p.Ser1039Cys) c.415C>G n.52C>G c.2168C>G (p.Ser723Cys) c.287C>G (p.Ser96Cys) n.3613C>G | gnomAD v4 |
| 12 | g.40299132C>T | CA384415523 | LRRK2 | c.3371C>T (p.Ser1124Phe) c.*2280C>T (n.*2280C>T) c.3116C>T (p.Ser1039Phe) c.415C>T n.52C>T c.2168C>T (p.Ser723Phe) c.287C>T (p.Ser96Phe) n.3613C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.40299133C>A | CA6513889 | LRRK2 | c.3372C>A (p.Ser1124=) c.*2281C>A (n.*2281C>A) c.3117C>A (p.Ser1039=) c.416C>A n.53C>A c.2169C>A (p.Ser723=) c.288C>A (p.Ser96=) n.3614C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.40299133C= | CA2030983886 | LRRK2 | c.3372C= (p.Ser1124=) c.*2281C= (n.*2281C=) c.3117C= (p.Ser1039=) c.416C= n.53C= c.2169C= (p.Ser723=) c.288C= (p.Ser96=) n.3614C= | |
| 12 | g.40299133C>G | CA479251081 | LRRK2 | c.3372C>G (p.Ser1124=) c.*2281C>G (n.*2281C>G) c.3117C>G (p.Ser1039=) c.416C>G n.53C>G c.2169C>G (p.Ser723=) c.288C>G (p.Ser96=) n.3614C>G | |
| 12 | g.40299133C>T | CA479251083 | LRRK2 | c.3372C>T (p.Ser1124=) c.*2281C>T (n.*2281C>T) c.3117C>T (p.Ser1039=) c.416C>T n.53C>T c.2169C>T (p.Ser723=) c.288C>T (p.Ser96=) n.3614C>T | ClinVar gnomAD v4 |
| 12 | g.40299134C>A | CA384415528 | LRRK2 | c.3373C>A (p.Pro1125Thr) c.*2282C>A (n.*2282C>A) c.3118C>A (p.Pro1040Thr) c.417C>A n.54C>A c.2170C>A (p.Pro724Thr) c.289C>A (p.Pro97Thr) n.3615C>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.40299134C= | CA2030983890 | LRRK2 | c.3373C= (p.Pro1125=) c.*2282C= (n.*2282C=) c.3118C= (p.Pro1040=) c.417C= n.54C= c.2170C= (p.Pro724=) c.289C= (p.Pro97=) n.3615C= | |
| 12 | g.40299134C>G | CA384415530 | LRRK2 | c.3373C>G (p.Pro1125Ala) c.*2282C>G (n.*2282C>G) c.3118C>G (p.Pro1040Ala) c.417C>G n.54C>G c.2170C>G (p.Pro724Ala) c.289C>G (p.Pro97Ala) n.3615C>G | ClinVar |
| 12 | g.40299134C>T | CA384415532 | LRRK2 | c.3373C>T (p.Pro1125Ser) c.*2282C>T (n.*2282C>T) c.3118C>T (p.Pro1040Ser) c.417C>T n.54C>T c.2170C>T (p.Pro724Ser) c.289C>T (p.Pro97Ser) n.3615C>T | |
| 12 | g.40299135C>A | CA384415534 | LRRK2 | c.3374C>A (p.Pro1125His) c.*2283C>A (n.*2283C>A) c.3119C>A (p.Pro1040His) c.418C>A n.55C>A c.2171C>A (p.Pro724His) c.290C>A (p.Pro97His) n.3616C>A | |
| 12 | g.40299135C= | CA2030983895 | LRRK2 | c.3374C= (p.Pro1125=) c.*2283C= (n.*2283C=) c.3119C= (p.Pro1040=) c.418C= n.55C= c.2171C= (p.Pro724=) c.290C= (p.Pro97=) n.3616C= | |
| 12 | g.40299135C>G | CA6513890 | LRRK2 | c.3374C>G (p.Pro1125Arg) c.*2283C>G (n.*2283C>G) c.3119C>G (p.Pro1040Arg) c.418C>G n.55C>G c.2171C>G (p.Pro724Arg) c.290C>G (p.Pro97Arg) n.3616C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.40299135C>T | CA384415536 | LRRK2 | c.3374C>T (p.Pro1125Leu) c.*2283C>T (n.*2283C>T) c.3119C>T (p.Pro1040Leu) c.418C>T n.55C>T c.2171C>T (p.Pro724Leu) c.290C>T (p.Pro97Leu) n.3616C>T | ClinVar gnomAD v4 |
| 12 | g.40299136C>A | CA479251098 | LRRK2 | c.3375C>A (p.Pro1125=) c.*2284C>A (n.*2284C>A) c.3120C>A (p.Pro1040=) c.419C>A n.56C>A c.2172C>A (p.Pro724=) c.291C>A (p.Pro97=) n.3617C>A | gnomAD v4 |
| 12 | g.40299136C>G | CA479251099 | LRRK2 | c.3375C>G (p.Pro1125=) c.*2284C>G (n.*2284C>G) c.3120C>G (p.Pro1040=) c.419C>G n.56C>G c.2172C>G (p.Pro724=) c.291C>G (p.Pro97=) n.3617C>G | ClinVar gnomAD v4 |
| 12 | g.40299136C>T | CA479251101 | LRRK2 | c.3375C>T (p.Pro1125=) c.*2284C>T (n.*2284C>T) c.3120C>T (p.Pro1040=) c.419C>T n.56C>T c.2172C>T (p.Pro724=) c.291C>T (p.Pro97=) n.3617C>T | ClinVar gnomAD v4 COSMIC COSMIC |
| 12 | g.40299137T>A | CA384415538 | LRRK2 | c.3376T>A (p.Leu1126Met) c.*2285T>A (n.*2285T>A) c.3121T>A (p.Leu1041Met) c.420T>A n.57T>A c.2173T>A (p.Leu725Met) c.292T>A (p.Leu98Met) n.3618T>A | |
| 12 | g.40299137T>C | CA479251105 | LRRK2 | c.3376T>C (p.Leu1126=) c.*2285T>C (n.*2285T>C) c.3121T>C (p.Leu1041=) c.420T>C n.57T>C c.2173T>C (p.Leu725=) c.292T>C (p.Leu98=) n.3618T>C | gnomAD v4 |
| 12 | g.40299137T>G | CA384415539 | LRRK2 | c.3376T>G (p.Leu1126Val) c.*2285T>G (n.*2285T>G) c.3121T>G (p.Leu1041Val) c.420T>G n.57T>G c.2173T>G (p.Leu725Val) c.292T>G (p.Leu98Val) n.3618T>G | |
| 12 | g.40299138T>A | CA384415541 | LRRK2 | c.3377T>A (p.Leu1126Ter) c.*2286T>A (n.*2286T>A) c.3122T>A (p.Leu1041Ter) c.421T>A n.58T>A c.2174T>A (p.Leu725Ter) c.293T>A (p.Leu98Ter) n.3619T>A | |
| 12 | g.40299138T>C | CA384415543 | LRRK2 | c.3377T>C (p.Leu1126Ser) c.*2286T>C (n.*2286T>C) c.3122T>C (p.Leu1041Ser) c.421T>C n.58T>C c.2174T>C (p.Leu725Ser) c.293T>C (p.Leu98Ser) n.3619T>C | |
| 12 | g.40299138T>G | CA384415545 | LRRK2 | c.3377T>G (p.Leu1126Trp) c.*2286T>G (n.*2286T>G) c.3122T>G (p.Leu1041Trp) c.421T>G n.58T>G c.2174T>G (p.Leu725Trp) c.293T>G (p.Leu98Trp) n.3619T>G | |
| 12 | g.40299139G>A | CA479251111 | LRRK2 | c.3378G>A (p.Leu1126=) c.*2287G>A (n.*2287G>A) c.3123G>A (p.Leu1041=) c.422G>A n.59G>A c.2175G>A (p.Leu725=) c.294G>A (p.Leu98=) n.3620G>A | COSMIC COSMIC |
| 12 | g.40299139G>C | CA384415546 | LRRK2 | c.3378G>C (p.Leu1126Phe) c.*2287G>C (n.*2287G>C) c.3123G>C (p.Leu1041Phe) c.422G>C n.59G>C c.2175G>C (p.Leu725Phe) c.294G>C (p.Leu98Phe) n.3620G>C | |
| 12 | g.40299139G>T | CA384415548 | LRRK2 | c.3378G>T (p.Leu1126Phe) c.*2287G>T (n.*2287G>T) c.3123G>T (p.Leu1041Phe) c.422G>T n.59G>T c.2175G>T (p.Leu725Phe) c.294G>T (p.Leu98Phe) n.3620G>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.40299140A>C | CA479251116 | LRRK2 | c.3379A>C (p.Arg1127=) c.*2288A>C (n.*2288A>C) c.3124A>C (p.Arg1042=) c.423A>C n.60A>C c.2176A>C (p.Arg726=) c.295A>C (p.Arg99=) n.3621A>C | |
| 12 | g.40299140A>G | CA384415551 | LRRK2 | c.3379A>G (p.Arg1127Gly) c.*2288A>G (n.*2288A>G) c.3124A>G (p.Arg1042Gly) c.423A>G n.60A>G c.2176A>G (p.Arg726Gly) c.295A>G (p.Arg99Gly) n.3621A>G | |
| 12 | g.40299140A>T | CA384415550 | LRRK2 | c.3379A>T (p.Arg1127Ter) c.*2288A>T (n.*2288A>T) c.3124A>T (p.Arg1042Ter) c.423A>T n.60A>T c.2176A>T (p.Arg726Ter) c.295A>T (p.Arg99Ter) n.3621A>T | |
| 12 | g.40299141G>A | CA384415553 | LRRK2 | c.3380G>A (p.Arg1127Lys) c.*2289G>A (n.*2289G>A) c.3125G>A (p.Arg1042Lys) c.424G>A n.61G>A c.2177G>A (p.Arg726Lys) c.296G>A (p.Arg99Lys) n.3622G>A | |
| 12 | g.40299141G>C | CA384415554 | LRRK2 | c.3380G>C (p.Arg1127Thr) c.*2289G>C (n.*2289G>C) c.3125G>C (p.Arg1042Thr) c.424G>C n.61G>C c.2177G>C (p.Arg726Thr) c.296G>C (p.Arg99Thr) n.3622G>C | |
| 12 | g.40299141G>T | CA384415555 | LRRK2 | c.3380G>T (p.Arg1127Ile) c.*2289G>T (n.*2289G>T) c.3125G>T (p.Arg1042Ile) c.424G>T n.61G>T c.2177G>T (p.Arg726Ile) c.296G>T (p.Arg99Ile) n.3622G>T | |
| 12 | g.40299142A>C | CA384415557 | LRRK2 | c.3381A>C (p.Arg1127Ser) c.*2290A>C (n.*2290A>C) c.3126A>C (p.Arg1042Ser) c.425A>C n.62A>C c.2178A>C (p.Arg726Ser) c.297A>C (p.Arg99Ser) n.3623A>C | |
| 12 | g.40299142A>G | CA479251117 | LRRK2 | c.3381A>G (p.Arg1127=) c.*2290A>G (n.*2290A>G) c.3126A>G (p.Arg1042=) c.425A>G n.62A>G c.2178A>G (p.Arg726=) c.297A>G (p.Arg99=) n.3623A>G | |
| 12 | g.40299142A>T | CA384415559 | LRRK2 | c.3381A>T (p.Arg1127Ser) c.*2290A>T (n.*2290A>T) c.3126A>T (p.Arg1042Ser) c.425A>T n.62A>T c.2178A>T (p.Arg726Ser) c.297A>T (p.Arg99Ser) n.3623A>T | |
| 12 | g.40299143C>A | CA6513891 | LRRK2 | c.3382C>A (p.Leu1128Met) c.*2291C>A (n.*2291C>A) c.3127C>A (p.Leu1043Met) c.426C>A n.63C>A c.2179C>A (p.Leu727Met) c.298C>A (p.Leu100Met) n.3624C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.40299143C= | CA2030983900 | LRRK2 | c.3382C= (p.Leu1128=) c.*2291C= (n.*2291C=) c.3127C= (p.Leu1043=) c.426C= n.63C= c.2179C= (p.Leu727=) c.298C= (p.Leu100=) n.3624C= | |
| 12 | g.40299143C>G | CA384415560 | LRRK2 | c.3382C>G (p.Leu1128Val) c.*2291C>G (n.*2291C>G) c.3127C>G (p.Leu1043Val) c.426C>G n.63C>G c.2179C>G (p.Leu727Val) c.298C>G (p.Leu100Val) n.3624C>G |