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.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 |
| 12 | g.40309134C= | CA2031002716 | LRRK2 | c.4218C= (p.Pro1406=) c.*3127C= (n.*3127C=) c.3963C= (p.Pro1321=) c.1514C= n.899C= c.3015C= (p.Pro1005=) c.1134C= (p.Pro378=) c.480C= (p.Pro160=) n.4460C= | |
| 12 | g.40309134C>G | CA479259086 | LRRK2 | c.4218C>G (p.Pro1406=) c.*3127C>G (n.*3127C>G) c.3963C>G (p.Pro1321=) c.1514C>G n.899C>G c.3015C>G (p.Pro1005=) c.1134C>G (p.Pro378=) c.480C>G (p.Pro160=) n.4460C>G | |
| 12 | g.40309134C>T | CA479259084 | LRRK2 | c.4218C>T (p.Pro1406=) c.*3127C>T (n.*3127C>T) c.3963C>T (p.Pro1321=) c.1514C>T n.899C>T c.3015C>T (p.Pro1005=) c.1134C>T (p.Pro378=) c.480C>T (p.Pro160=) n.4460C>T | |
| 12 | g.40309135C>A | CA384418021 | LRRK2 | c.4219C>A (p.His1407Asn) c.*3128C>A (n.*3128C>A) c.3964C>A (p.His1322Asn) c.1515C>A n.900C>A c.3016C>A (p.His1006Asn) c.1135C>A (p.His379Asn) c.481C>A (p.His161Asn) n.4461C>A | COSMIC COSMIC |
| 12 | g.40309135C>G | CA384418022 | LRRK2 | c.4219C>G (p.His1407Asp) c.*3128C>G (n.*3128C>G) c.3964C>G (p.His1322Asp) c.1515C>G n.900C>G c.3016C>G (p.His1006Asp) c.1135C>G (p.His379Asp) c.481C>G (p.His161Asp) n.4461C>G | |
| 12 | g.40309135C>T | CA384418023 | LRRK2 | c.4219C>T (p.His1407Tyr) c.*3128C>T (n.*3128C>T) c.3964C>T (p.His1322Tyr) c.1515C>T n.900C>T c.3016C>T (p.His1006Tyr) c.1135C>T (p.His379Tyr) c.481C>T (p.His161Tyr) n.4461C>T | |
| 12 | g.40309136A= | CA2031002718 | LRRK2 | c.4220A= (p.His1407=) c.*3129A= (n.*3129A=) c.3965A= (p.His1322=) c.1516A= n.901A= c.3017A= (p.His1006=) c.1136A= (p.His379=) c.482A= (p.His161=) n.4462A= | |
| 12 | g.40309136A>C | CA384418024 | LRRK2 | c.4220A>C (p.His1407Pro) c.*3129A>C (n.*3129A>C) c.3965A>C (p.His1322Pro) c.1516A>C n.901A>C c.3017A>C (p.His1006Pro) c.1136A>C (p.His379Pro) c.482A>C (p.His161Pro) n.4462A>C | |
| 12 | g.40309136A>G | CA384418026 | LRRK2 | c.4220A>G (p.His1407Arg) c.*3129A>G (n.*3129A>G) c.3965A>G (p.His1322Arg) c.1516A>G n.901A>G c.3017A>G (p.His1006Arg) c.1136A>G (p.His379Arg) c.482A>G (p.His161Arg) n.4462A>G | ClinVar dbSNP |
| 12 | g.40309136A>T | CA384418025 | LRRK2 | c.4220A>T (p.His1407Leu) c.*3129A>T (n.*3129A>T) c.3965A>T (p.His1322Leu) c.1516A>T n.901A>T c.3017A>T (p.His1006Leu) c.1136A>T (p.His379Leu) c.482A>T (p.His161Leu) n.4462A>T | |
| 12 | g.40309136_40309137delinsAT | CA2031002719 | LRRK2 | c.4220_4221delinsAT (p.His1407=) c.*3129_*3130delinsAT (n.*3129_*3130delinsAT) c.3965_3966delinsAT (p.His1322=) c.1516_1517delinsAT n.901_902delinsAT c.3017_3018delinsAT (p.His1006=) c.1136_1137delinsAT (p.His379=) c.482_483delinsAT (p.His161=) n.4462_4463delinsAT | |
| 12 | g.40309137T>A | CA384418027 | LRRK2 | c.4221T>A (p.His1407Gln) c.*3130T>A (n.*3130T>A) c.3966T>A (p.His1322Gln) c.1517T>A n.902T>A c.3018T>A (p.His1006Gln) c.1137T>A (p.His379Gln) c.483T>A (p.His161Gln) n.4463T>A | |
| 12 | g.40309137T>C | CA6514118 | LRRK2 | c.4221T>C (p.His1407=) c.*3130T>C (n.*3130T>C) c.3966T>C (p.His1322=) c.1517T>C n.902T>C c.3018T>C (p.His1006=) c.1137T>C (p.His379=) c.483T>C (p.His161=) n.4463T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40309137T>G | CA384418028 | LRRK2 | c.4221T>G (p.His1407Gln) c.*3130T>G (n.*3130T>G) c.3966T>G (p.His1322Gln) c.1517T>G n.902T>G c.3018T>G (p.His1006Gln) c.1137T>G (p.His379Gln) c.483T>G (p.His161Gln) n.4463T>G | |
| 12 | g.40309137T= | CA2031002727 | LRRK2 | c.4221T= (p.His1407=) c.*3130T= (n.*3130T=) c.3966T= (p.His1322=) c.1517T= n.902T= c.3018T= (p.His1006=) c.1137T= (p.His379=) c.483T= (p.His161=) n.4463T= | |
| 12 | g.40309140del | CA604503503 | LRRK2 | c.4224del (p.Phe1408LeufsTer2) c.*3133del (n.*3133del) c.3969del (p.Phe1323LeufsTer2) c.1520del n.905del c.3021del (p.Phe1007LeufsTer2) c.1140del (p.Phe380LeufsTer2) c.486del (p.Phe162LeufsTer2) n.4466del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |