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.40309114G>A | CA235357278 | LRRK2 | c.4198G>A (p.Glu1400Lys) c.*3107G>A (n.*3107G>A) c.3943G>A (p.Glu1315Lys) c.1494G>A n.879G>A c.2995G>A (p.Glu999Lys) c.1114G>A (p.Glu372Lys) c.460G>A (p.Glu154Lys) n.4440G>A | dbSNP |
| 12 | g.40309114G>C | CA384417978 | LRRK2 | c.4198G>C (p.Glu1400Gln) c.*3107G>C (n.*3107G>C) c.3943G>C (p.Glu1315Gln) c.1494G>C n.879G>C c.2995G>C (p.Glu999Gln) c.1114G>C (p.Glu372Gln) c.460G>C (p.Glu154Gln) n.4440G>C | |
| 12 | g.40309114G= | CA2031002648 | LRRK2 | c.4198G= (p.Glu1400=) c.*3107G= (n.*3107G=) c.3943G= (p.Glu1315=) c.1494G= n.879G= c.2995G= (p.Glu999=) c.1114G= (p.Glu372=) c.460G= (p.Glu154=) n.4440G= | |
| 12 | g.40309114G>T | CA384417977 | LRRK2 | c.4198G>T (p.Glu1400Ter) c.*3107G>T (n.*3107G>T) c.3943G>T (p.Glu1315Ter) c.1494G>T n.879G>T c.2995G>T (p.Glu999Ter) c.1114G>T (p.Glu372Ter) c.460G>T (p.Glu154Ter) n.4440G>T | gnomAD v4 |
| 12 | g.40309115A>C | CA384417979 | LRRK2 | c.4199A>C (p.Glu1400Ala) c.*3108A>C (n.*3108A>C) c.3944A>C (p.Glu1315Ala) c.1495A>C n.880A>C c.2996A>C (p.Glu999Ala) c.1115A>C (p.Glu372Ala) c.461A>C (p.Glu154Ala) n.4441A>C | |
| 12 | g.40309115A>G | CA384417980 | LRRK2 | c.4199A>G (p.Glu1400Gly) c.*3108A>G (n.*3108A>G) c.3944A>G (p.Glu1315Gly) c.1495A>G n.880A>G c.2996A>G (p.Glu999Gly) c.1115A>G (p.Glu372Gly) c.461A>G (p.Glu154Gly) n.4441A>G | |
| 12 | g.40309115A>T | CA384417981 | LRRK2 | c.4199A>T (p.Glu1400Val) c.*3108A>T (n.*3108A>T) c.3944A>T (p.Glu1315Val) c.1495A>T n.880A>T c.2996A>T (p.Glu999Val) c.1115A>T (p.Glu372Val) c.461A>T (p.Glu154Val) n.4441A>T | |
| 12 | g.40309116A= | CA2031002651 | LRRK2 | c.4200A= (p.Glu1400=) c.*3109A= (n.*3109A=) c.3945A= (p.Glu1315=) c.1496A= n.881A= c.2997A= (p.Glu999=) c.1116A= (p.Glu372=) c.462A= (p.Glu154=) n.4442A= | |
| 12 | g.40309116A>C | CA384417982 | LRRK2 | c.4200A>C (p.Glu1400Asp) c.*3109A>C (n.*3109A>C) c.3945A>C (p.Glu1315Asp) c.1496A>C n.881A>C c.2997A>C (p.Glu999Asp) c.1116A>C (p.Glu372Asp) c.462A>C (p.Glu154Asp) n.4442A>C | |
| 12 | g.40309116A>G | CA6514112 | LRRK2 | c.4200A>G (p.Glu1400=) c.*3109A>G (n.*3109A>G) c.3945A>G (p.Glu1315=) c.1496A>G n.881A>G c.2997A>G (p.Glu999=) c.1116A>G (p.Glu372=) c.462A>G (p.Glu154=) n.4442A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40309116A>T | CA235357282 | LRRK2 | c.4200A>T (p.Glu1400Asp) c.*3109A>T (n.*3109A>T) c.3945A>T (p.Glu1315Asp) c.1496A>T n.881A>T c.2997A>T (p.Glu999Asp) c.1116A>T (p.Glu372Asp) c.462A>T (p.Glu154Asp) n.4442A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40309117T>A | CA384417985 | LRRK2 | c.4201T>A (p.Phe1401Ile) c.*3110T>A (n.*3110T>A) c.3946T>A (p.Phe1316Ile) c.1497T>A n.882T>A c.2998T>A (p.Phe1000Ile) c.1117T>A (p.Phe373Ile) c.463T>A (p.Phe155Ile) n.4443T>A | |
| 12 | g.40309117T>C | CA384417983 | LRRK2 | c.4201T>C (p.Phe1401Leu) c.*3110T>C (n.*3110T>C) c.3946T>C (p.Phe1316Leu) c.1497T>C n.882T>C c.2998T>C (p.Phe1000Leu) c.1117T>C (p.Phe373Leu) c.463T>C (p.Phe155Leu) n.4443T>C | |
| 12 | g.40309117T>G | CA384417984 | LRRK2 | c.4201T>G (p.Phe1401Val) c.*3110T>G (n.*3110T>G) c.3946T>G (p.Phe1316Val) c.1497T>G n.882T>G c.2998T>G (p.Phe1000Val) c.1117T>G (p.Phe373Val) c.463T>G (p.Phe155Val) n.4443T>G | |
| 12 | g.40309118T>A | CA384417986 | LRRK2 | c.4202T>A (p.Phe1401Tyr) c.*3111T>A (n.*3111T>A) c.3947T>A (p.Phe1316Tyr) c.1498T>A n.883T>A c.2999T>A (p.Phe1000Tyr) c.1118T>A (p.Phe373Tyr) c.464T>A (p.Phe155Tyr) n.4444T>A | |
| 12 | g.40309118T>C | CA384417987 | LRRK2 | c.4202T>C (p.Phe1401Ser) c.*3111T>C (n.*3111T>C) c.3947T>C (p.Phe1316Ser) c.1498T>C n.883T>C c.2999T>C (p.Phe1000Ser) c.1118T>C (p.Phe373Ser) c.464T>C (p.Phe155Ser) n.4444T>C | |
| 12 | g.40309118T>G | CA384417988 | LRRK2 | c.4202T>G (p.Phe1401Cys) c.*3111T>G (n.*3111T>G) c.3947T>G (p.Phe1316Cys) c.1498T>G n.883T>G c.2999T>G (p.Phe1000Cys) c.1118T>G (p.Phe373Cys) c.464T>G (p.Phe155Cys) n.4444T>G | |
| 12 | g.40309119C>A | CA384417989 | LRRK2 | c.4203C>A (p.Phe1401Leu) c.*3112C>A (n.*3112C>A) c.3948C>A (p.Phe1316Leu) c.1499C>A n.884C>A c.3000C>A (p.Phe1000Leu) c.1119C>A (p.Phe373Leu) c.465C>A (p.Phe155Leu) n.4445C>A | |
| 12 | g.40309119C>G | CA384417990 | LRRK2 | c.4203C>G (p.Phe1401Leu) c.*3112C>G (n.*3112C>G) c.3948C>G (p.Phe1316Leu) c.1499C>G n.884C>G c.3000C>G (p.Phe1000Leu) c.1119C>G (p.Phe373Leu) c.465C>G (p.Phe155Leu) n.4445C>G | |
| 12 | g.40309119C>T | CA479259002 | LRRK2 | c.4203C>T (p.Phe1401=) c.*3112C>T (n.*3112C>T) c.3948C>T (p.Phe1316=) c.1499C>T n.884C>T c.3000C>T (p.Phe1000=) c.1119C>T (p.Phe373=) c.465C>T (p.Phe155=) n.4445C>T | ClinVar dbSNP |
| 12 | g.40309120T>A | CA384417992 | LRRK2 | c.4204T>A (p.Tyr1402Asn) c.*3113T>A (n.*3113T>A) c.3949T>A (p.Tyr1317Asn) c.1500T>A n.885T>A c.3001T>A (p.Tyr1001Asn) c.1120T>A (p.Tyr374Asn) c.466T>A (p.Tyr156Asn) n.4446T>A | |
| 12 | g.40309120T>C | CA6514113 | LRRK2 | c.4204T>C (p.Tyr1402His) c.*3113T>C (n.*3113T>C) c.3949T>C (p.Tyr1317His) c.1500T>C n.885T>C c.3001T>C (p.Tyr1001His) c.1120T>C (p.Tyr374His) c.466T>C (p.Tyr156His) n.4446T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40309120T>G | CA384417991 | LRRK2 | c.4204T>G (p.Tyr1402Asp) c.*3113T>G (n.*3113T>G) c.3949T>G (p.Tyr1317Asp) c.1500T>G n.885T>G c.3001T>G (p.Tyr1001Asp) c.1120T>G (p.Tyr374Asp) c.466T>G (p.Tyr156Asp) n.4446T>G | |
| 12 | g.40309120T= | CA2031002655 | LRRK2 | c.4204T= (p.Tyr1402=) c.*3113T= (n.*3113T=) c.3949T= (p.Tyr1317=) c.1500T= n.885T= c.3001T= (p.Tyr1001=) c.1120T= (p.Tyr374=) c.466T= (p.Tyr156=) n.4446T= | |
| 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 |