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.40309121A= | CA2031002658 | LRRK2 | c.4205A= (p.Tyr1402=) c.*3114A= (n.*3114A=) c.3950A= (p.Tyr1317=) c.1501A= n.886A= c.3002A= (p.Tyr1001=) c.1121A= (p.Tyr374=) c.467A= (p.Tyr156=) n.4447A= | |
| 12 | g.40309121A>C | CA384417993 | LRRK2 | c.4205A>C (p.Tyr1402Ser) c.*3114A>C (n.*3114A>C) c.3950A>C (p.Tyr1317Ser) c.1501A>C n.886A>C c.3002A>C (p.Tyr1001Ser) c.1121A>C (p.Tyr374Ser) c.467A>C (p.Tyr156Ser) n.4447A>C | |
| 12 | g.40309121A>G | CA6514114 | LRRK2 | c.4205A>G (p.Tyr1402Cys) c.*3114A>G (n.*3114A>G) c.3950A>G (p.Tyr1317Cys) c.1501A>G n.886A>G c.3002A>G (p.Tyr1001Cys) c.1121A>G (p.Tyr374Cys) c.467A>G (p.Tyr156Cys) n.4447A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.40309121A>T | CA384417994 | LRRK2 | c.4205A>T (p.Tyr1402Phe) c.*3114A>T (n.*3114A>T) c.3950A>T (p.Tyr1317Phe) c.1501A>T n.886A>T c.3002A>T (p.Tyr1001Phe) c.1121A>T (p.Tyr374Phe) c.467A>T (p.Tyr156Phe) n.4447A>T | |
| 12 | g.40309122T>A | CA384417995 | LRRK2 | c.4206T>A (p.Tyr1402Ter) c.*3115T>A (n.*3115T>A) c.3951T>A (p.Tyr1317Ter) c.1502T>A n.887T>A c.3003T>A (p.Tyr1001Ter) c.1122T>A (p.Tyr374Ter) c.468T>A (p.Tyr156Ter) n.4448T>A | |
| 12 | g.40309122T>C | CA6514115 | LRRK2 | c.4206T>C (p.Tyr1402=) c.*3115T>C (n.*3115T>C) c.3951T>C (p.Tyr1317=) c.1502T>C n.887T>C c.3003T>C (p.Tyr1001=) c.1122T>C (p.Tyr374=) c.468T>C (p.Tyr156=) n.4448T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.40309122T>G | CA384417996 | LRRK2 | c.4206T>G (p.Tyr1402Ter) c.*3115T>G (n.*3115T>G) c.3951T>G (p.Tyr1317Ter) c.1502T>G n.887T>G c.3003T>G (p.Tyr1001Ter) c.1122T>G (p.Tyr374Ter) c.468T>G (p.Tyr156Ter) n.4448T>G | |
| 12 | g.40309122T= | CA2031002665 | LRRK2 | c.4206T= (p.Tyr1402=) c.*3115T= (n.*3115T=) c.3951T= (p.Tyr1317=) c.1502T= n.887T= c.3003T= (p.Tyr1001=) c.1122T= (p.Tyr374=) c.468T= (p.Tyr156=) n.4448T= | |
| 12 | g.40309123A= | CA2031002670 | LRRK2 | c.4207A= (p.Ser1403=) c.*3116A= (n.*3116A=) c.3952A= (p.Ser1318=) c.1503A= n.888A= c.3004A= (p.Ser1002=) c.1123A= (p.Ser375=) c.469A= (p.Ser157=) n.4449A= | |
| 12 | g.40309123A>C | CA384417997 | LRRK2 | c.4207A>C (p.Ser1403Arg) c.*3116A>C (n.*3116A>C) c.3952A>C (p.Ser1318Arg) c.1503A>C n.888A>C c.3004A>C (p.Ser1002Arg) c.1123A>C (p.Ser375Arg) c.469A>C (p.Ser157Arg) n.4449A>C | |
| 12 | g.40309123A>G | CA384417998 | LRRK2 | c.4207A>G (p.Ser1403Gly) c.*3116A>G (n.*3116A>G) c.3952A>G (p.Ser1318Gly) c.1503A>G n.888A>G c.3004A>G (p.Ser1002Gly) c.1123A>G (p.Ser375Gly) c.469A>G (p.Ser157Gly) n.4449A>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.40309123A>T | CA235357315 | LRRK2 | c.4207A>T (p.Ser1403Cys) c.*3116A>T (n.*3116A>T) c.3952A>T (p.Ser1318Cys) c.1503A>T n.888A>T c.3004A>T (p.Ser1002Cys) c.1123A>T (p.Ser375Cys) c.469A>T (p.Ser157Cys) n.4449A>T | ClinVar dbSNP |
| 12 | g.40309124G>A | CA6514116 | LRRK2 | c.4208G>A (p.Ser1403Asn) c.*3117G>A (n.*3117G>A) c.3953G>A (p.Ser1318Asn) c.1504G>A n.889G>A c.3005G>A (p.Ser1002Asn) c.1124G>A (p.Ser375Asn) c.470G>A (p.Ser157Asn) n.4450G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.40309124G>C | CA384417999 | LRRK2 | c.4208G>C (p.Ser1403Thr) c.*3117G>C (n.*3117G>C) c.3953G>C (p.Ser1318Thr) c.1504G>C n.889G>C c.3005G>C (p.Ser1002Thr) c.1124G>C (p.Ser375Thr) c.470G>C (p.Ser157Thr) n.4450G>C | |
| 12 | g.40309124G= | CA2031002676 | LRRK2 | c.4208G= (p.Ser1403=) c.*3117G= (n.*3117G=) c.3953G= (p.Ser1318=) c.1504G= n.889G= c.3005G= (p.Ser1002=) c.1124G= (p.Ser375=) c.470G= (p.Ser157=) n.4450G= | |
| 12 | g.40309124G>T | CA384418000 | LRRK2 | c.4208G>T (p.Ser1403Ile) c.*3117G>T (n.*3117G>T) c.3953G>T (p.Ser1318Ile) c.1504G>T n.889G>T c.3005G>T (p.Ser1002Ile) c.1124G>T (p.Ser375Ile) c.470G>T (p.Ser157Ile) n.4450G>T | |
| 12 | g.40309125T>A | CA384418001 | LRRK2 | c.4209T>A (p.Ser1403Arg) c.*3118T>A (n.*3118T>A) c.3954T>A (p.Ser1318Arg) c.1505T>A n.890T>A c.3006T>A (p.Ser1002Arg) c.1125T>A (p.Ser375Arg) c.471T>A (p.Ser157Arg) n.4451T>A | |
| 12 | g.40309125T>C | CA479259033 | LRRK2 | c.4209T>C (p.Ser1403=) c.*3118T>C (n.*3118T>C) c.3954T>C (p.Ser1318=) c.1505T>C n.890T>C c.3006T>C (p.Ser1002=) c.1125T>C (p.Ser375=) c.471T>C (p.Ser157=) n.4451T>C | ClinVar gnomAD v4 |
| 12 | g.40309125T>G | CA384418002 | LRRK2 | c.4209T>G (p.Ser1403Arg) c.*3118T>G (n.*3118T>G) c.3954T>G (p.Ser1318Arg) c.1505T>G n.890T>G c.3006T>G (p.Ser1002Arg) c.1125T>G (p.Ser375Arg) c.471T>G (p.Ser157Arg) n.4451T>G | |
| 12 | g.40309126A= | CA2031002682 | LRRK2 | c.4210A= (p.Thr1404=) c.*3119A= (n.*3119A=) c.3955A= (p.Thr1319=) c.1506A= n.891A= c.3007A= (p.Thr1003=) c.1126A= (p.Thr376=) c.472A= (p.Thr158=) n.4452A= | |
| 12 | g.40309126A>C | CA384418004 | LRRK2 | c.4210A>C (p.Thr1404Pro) c.*3119A>C (n.*3119A>C) c.3955A>C (p.Thr1319Pro) c.1506A>C n.891A>C c.3007A>C (p.Thr1003Pro) c.1126A>C (p.Thr376Pro) c.472A>C (p.Thr158Pro) n.4452A>C | |
| 12 | g.40309126A>G | CA384418003 | LRRK2 | c.4210A>G (p.Thr1404Ala) c.*3119A>G (n.*3119A>G) c.3955A>G (p.Thr1319Ala) c.1506A>G n.891A>G c.3007A>G (p.Thr1003Ala) c.1126A>G (p.Thr376Ala) c.472A>G (p.Thr158Ala) n.4452A>G | gnomAD v4 |
| 12 | g.40309126A>T | CA235357321 | LRRK2 | c.4210A>T (p.Thr1404Ser) c.*3119A>T (n.*3119A>T) c.3955A>T (p.Thr1319Ser) c.1506A>T n.891A>T c.3007A>T (p.Thr1003Ser) c.1126A>T (p.Thr376Ser) c.472A>T (p.Thr158Ser) n.4452A>T | dbSNP gnomAD v4 |
| 12 | g.40309127C>A | CA384418005 | LRRK2 | c.4211C>A (p.Thr1404Asn) c.*3120C>A (n.*3120C>A) c.3956C>A (p.Thr1319Asn) c.1507C>A n.892C>A c.3008C>A (p.Thr1003Asn) c.1127C>A (p.Thr376Asn) c.473C>A (p.Thr158Asn) n.4453C>A | COSMIC COSMIC |
| 12 | g.40309127C>G | CA384418006 | LRRK2 | c.4211C>G (p.Thr1404Ser) c.*3120C>G (n.*3120C>G) c.3956C>G (p.Thr1319Ser) c.1507C>G n.892C>G c.3008C>G (p.Thr1003Ser) c.1127C>G (p.Thr376Ser) c.473C>G (p.Thr158Ser) n.4453C>G | gnomAD v4 |
| 12 | g.40309127C>T | CA384418007 | LRRK2 | c.4211C>T (p.Thr1404Ile) c.*3120C>T (n.*3120C>T) c.3956C>T (p.Thr1319Ile) c.1507C>T n.892C>T c.3008C>T (p.Thr1003Ile) c.1127C>T (p.Thr376Ile) c.473C>T (p.Thr158Ile) n.4453C>T | |
| 12 | g.40309128T>A | CA479259047 | LRRK2 | c.4212T>A (p.Thr1404=) c.*3121T>A (n.*3121T>A) c.3957T>A (p.Thr1319=) c.1508T>A n.893T>A c.3009T>A (p.Thr1003=) c.1128T>A (p.Thr376=) c.474T>A (p.Thr158=) n.4454T>A | dbSNP |
| 12 | g.40309128T>C | CA479259051 | LRRK2 | c.4212T>C (p.Thr1404=) c.*3121T>C (n.*3121T>C) c.3957T>C (p.Thr1319=) c.1508T>C n.893T>C c.3009T>C (p.Thr1003=) c.1128T>C (p.Thr376=) c.474T>C (p.Thr158=) n.4454T>C | ClinVar |
| 12 | g.40309128T>G | CA479259048 | LRRK2 | c.4212T>G (p.Thr1404=) c.*3121T>G (n.*3121T>G) c.3957T>G (p.Thr1319=) c.1508T>G n.893T>G c.3009T>G (p.Thr1003=) c.1128T>G (p.Thr376=) c.474T>G (p.Thr158=) n.4454T>G | |
| 12 | g.40309128T= | CA2031002686 | LRRK2 | c.4212T= (p.Thr1404=) c.*3121T= (n.*3121T=) c.3957T= (p.Thr1319=) c.1508T= n.893T= c.3009T= (p.Thr1003=) c.1128T= (p.Thr376=) c.474T= (p.Thr158=) n.4454T= | |
| 12 | g.40309129C>A | CA384418008 | LRRK2 | c.4213C>A (p.His1405Asn) c.*3122C>A (n.*3122C>A) c.3958C>A (p.His1320Asn) c.1509C>A n.894C>A c.3010C>A (p.His1004Asn) c.1129C>A (p.His377Asn) c.475C>A (p.His159Asn) n.4455C>A | gnomAD v4 |
| 12 | g.40309129C= | CA2031002688 | LRRK2 | c.4213C= (p.His1405=) c.*3122C= (n.*3122C=) c.3958C= (p.His1320=) c.1509C= n.894C= c.3010C= (p.His1004=) c.1129C= (p.His377=) c.475C= (p.His159=) n.4455C= | |
| 12 | g.40309129C>G | CA384418009 | LRRK2 | c.4213C>G (p.His1405Asp) c.*3122C>G (n.*3122C>G) c.3958C>G (p.His1320Asp) c.1509C>G n.894C>G c.3010C>G (p.His1004Asp) c.1129C>G (p.His377Asp) c.475C>G (p.His159Asp) n.4455C>G | |
| 12 | g.40309129C>T | CA384418010 | LRRK2 | c.4213C>T (p.His1405Tyr) c.*3122C>T (n.*3122C>T) c.3958C>T (p.His1320Tyr) c.1509C>T n.894C>T c.3010C>T (p.His1004Tyr) c.1129C>T (p.His377Tyr) c.475C>T (p.His159Tyr) n.4455C>T | dbSNP gnomAD v4 |
| 12 | g.40309130A>C | CA384418011 | LRRK2 | c.4214A>C (p.His1405Pro) c.*3123A>C (n.*3123A>C) c.3959A>C (p.His1320Pro) c.1510A>C n.895A>C c.3011A>C (p.His1004Pro) c.1130A>C (p.His377Pro) c.476A>C (p.His159Pro) n.4456A>C | |
| 12 | g.40309130A>G | CA384418013 | LRRK2 | c.4214A>G (p.His1405Arg) c.*3123A>G (n.*3123A>G) c.3959A>G (p.His1320Arg) c.1510A>G n.895A>G c.3011A>G (p.His1004Arg) c.1130A>G (p.His377Arg) c.476A>G (p.His159Arg) n.4456A>G | |
| 12 | g.40309130A>T | CA384418012 | LRRK2 | c.4214A>T (p.His1405Leu) c.*3123A>T (n.*3123A>T) c.3959A>T (p.His1320Leu) c.1510A>T n.895A>T c.3011A>T (p.His1004Leu) c.1130A>T (p.His377Leu) c.476A>T (p.His159Leu) n.4456A>T | ClinVar |
| 12 | g.40309131T>A | CA6514117 | LRRK2 | c.4215T>A (p.His1405Gln) c.*3124T>A (n.*3124T>A) c.3960T>A (p.His1320Gln) c.1511T>A n.896T>A c.3012T>A (p.His1004Gln) c.1131T>A (p.His377Gln) c.477T>A (p.His159Gln) n.4457T>A | ClinVar dbSNP ExAC |
| 12 | g.40309131T>C | CA479259067 | LRRK2 | c.4215T>C (p.His1405=) c.*3124T>C (n.*3124T>C) c.3960T>C (p.His1320=) c.1511T>C n.896T>C c.3012T>C (p.His1004=) c.1131T>C (p.His377=) c.477T>C (p.His159=) n.4457T>C | |
| 12 | g.40309131T>G | CA384418014 | LRRK2 | c.4215T>G (p.His1405Gln) c.*3124T>G (n.*3124T>G) c.3960T>G (p.His1320Gln) c.1511T>G n.896T>G c.3012T>G (p.His1004Gln) c.1131T>G (p.His377Gln) c.477T>G (p.His159Gln) n.4457T>G | |
| 12 | g.40309131T= | CA2031002691 | LRRK2 | c.4215T= (p.His1405=) c.*3124T= (n.*3124T=) c.3960T= (p.His1320=) c.1511T= n.896T= c.3012T= (p.His1004=) c.1131T= (p.His377=) c.477T= (p.His159=) n.4457T= | |
| 12 | g.40309132C>A | CA384418015 | LRRK2 | c.4216C>A (p.Pro1406Thr) c.*3125C>A (n.*3125C>A) c.3961C>A (p.Pro1321Thr) c.1512C>A n.897C>A c.3013C>A (p.Pro1005Thr) c.1132C>A (p.Pro378Thr) c.478C>A (p.Pro160Thr) n.4458C>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.40309132C= | CA2031002694 | LRRK2 | c.4216C= (p.Pro1406=) c.*3125C= (n.*3125C=) c.3961C= (p.Pro1321=) c.1512C= n.897C= c.3013C= (p.Pro1005=) c.1132C= (p.Pro378=) c.478C= (p.Pro160=) n.4458C= | |
| 12 | g.40309132C>G | CA384418016 | LRRK2 | c.4216C>G (p.Pro1406Ala) c.*3125C>G (n.*3125C>G) c.3961C>G (p.Pro1321Ala) c.1512C>G n.897C>G c.3013C>G (p.Pro1005Ala) c.1132C>G (p.Pro378Ala) c.478C>G (p.Pro160Ala) n.4458C>G | |
| 12 | g.40309132C>T | CA384418017 | LRRK2 | c.4216C>T (p.Pro1406Ser) c.*3125C>T (n.*3125C>T) c.3961C>T (p.Pro1321Ser) c.1512C>T n.897C>T c.3013C>T (p.Pro1005Ser) c.1132C>T (p.Pro378Ser) c.478C>T (p.Pro160Ser) n.4458C>T | |
| 12 | g.40309133C>A | CA384418018 | LRRK2 | c.4217C>A (p.Pro1406His) c.*3126C>A (n.*3126C>A) c.3962C>A (p.Pro1321His) c.1513C>A n.898C>A c.3014C>A (p.Pro1005His) c.1133C>A (p.Pro378His) c.479C>A (p.Pro160His) n.4459C>A | |
| 12 | g.40309133C= | CA2031002698 | LRRK2 | c.4217C= (p.Pro1406=) c.*3126C= (n.*3126C=) c.3962C= (p.Pro1321=) c.1513C= n.898C= c.3014C= (p.Pro1005=) c.1133C= (p.Pro378=) c.479C= (p.Pro160=) n.4459C= | |
| 12 | g.40309133C>G | CA384418019 | LRRK2 | c.4217C>G (p.Pro1406Arg) c.*3126C>G (n.*3126C>G) c.3962C>G (p.Pro1321Arg) c.1513C>G n.898C>G c.3014C>G (p.Pro1005Arg) c.1133C>G (p.Pro378Arg) c.479C>G (p.Pro160Arg) n.4459C>G | |
| 12 | g.40309133C>T | CA384418020 | LRRK2 | c.4217C>T (p.Pro1406Leu) c.*3126C>T (n.*3126C>T) c.3962C>T (p.Pro1321Leu) c.1513C>T n.898C>T c.3014C>T (p.Pro1005Leu) c.1133C>T (p.Pro378Leu) c.479C>T (p.Pro160Leu) n.4459C>T | dbSNP gnomAD v4 |
| 12 | g.40309134C>A | CA479259082 | LRRK2 | c.4218C>A (p.Pro1406=) c.*3127C>A (n.*3127C>A) c.3963C>A (p.Pro1321=) c.1514C>A n.899C>A c.3015C>A (p.Pro1005=) c.1134C>A (p.Pro378=) c.480C>A (p.Pro160=) n.4460C>A | dbSNP gnomAD v3 gnomAD v4 |