| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.40309109G>A | CA343567 | LRRK2 | c.4193G>A (p.Arg1398His) c.*3102G>A (n.*3102G>A) c.3938G>A (p.Arg1313His) c.1489G>A n.874G>A c.2990G>A (p.Arg997His) c.1109G>A (p.Arg370His) c.455G>A (p.Arg152His) n.4435G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40309109G>C | CA384417968 | LRRK2 | c.4193G>C (p.Arg1398Pro) c.*3102G>C (n.*3102G>C) c.3938G>C (p.Arg1313Pro) c.1489G>C n.874G>C c.2990G>C (p.Arg997Pro) c.1109G>C (p.Arg370Pro) c.455G>C (p.Arg152Pro) n.4435G>C | |
| 12 | g.40309109G= | CA2031002638 | LRRK2 | c.4193G= (p.Arg1398=) c.*3102G= (n.*3102G=) c.3938G= (p.Arg1313=) c.1489G= n.874G= c.2990G= (p.Arg997=) c.1109G= (p.Arg370=) c.455G= (p.Arg152=) n.4435G= | |
| 12 | g.40309109G>T | CA6514111 | LRRK2 | c.4193G>T (p.Arg1398Leu) c.*3102G>T (n.*3102G>T) c.3938G>T (p.Arg1313Leu) c.1489G>T n.874G>T c.2990G>T (p.Arg997Leu) c.1109G>T (p.Arg370Leu) c.455G>T (p.Arg152Leu) n.4435G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40309110T>A | CA479258952 | LRRK2 | c.4194T>A (p.Arg1398=) c.*3103T>A (n.*3103T>A) c.3939T>A (p.Arg1313=) c.1490T>A n.875T>A c.2991T>A (p.Arg997=) c.1110T>A (p.Arg370=) c.456T>A (p.Arg152=) n.4436T>A | |
| 12 | g.40309110T>C | CA479258949 | LRRK2 | c.4194T>C (p.Arg1398=) c.*3103T>C (n.*3103T>C) c.3939T>C (p.Arg1313=) c.1490T>C n.875T>C c.2991T>C (p.Arg997=) c.1110T>C (p.Arg370=) c.456T>C (p.Arg152=) n.4436T>C | |
| 12 | g.40309110T>G | CA235357270 | LRRK2 | c.4194T>G (p.Arg1398=) c.*3103T>G (n.*3103T>G) c.3939T>G (p.Arg1313=) c.1490T>G n.875T>G c.2991T>G (p.Arg997=) c.1110T>G (p.Arg370=) c.456T>G (p.Arg152=) n.4436T>G | dbSNP |
| 12 | g.40309110T= | CA2031002646 | LRRK2 | c.4194T= (p.Arg1398=) c.*3103T= (n.*3103T=) c.3939T= (p.Arg1313=) c.1490T= n.875T= c.2991T= (p.Arg997=) c.1110T= (p.Arg370=) c.456T= (p.Arg152=) n.4436T= | |
| 12 | g.40309111G>A | CA384417970 | LRRK2 | c.4195G>A (p.Glu1399Lys) c.*3104G>A (n.*3104G>A) c.3940G>A (p.Glu1314Lys) c.1491G>A n.876G>A c.2992G>A (p.Glu998Lys) c.1111G>A (p.Glu371Lys) c.457G>A (p.Glu153Lys) n.4437G>A | |
| 12 | g.40309111G>C | CA384417971 | LRRK2 | c.4195G>C (p.Glu1399Gln) c.*3104G>C (n.*3104G>C) c.3940G>C (p.Glu1314Gln) c.1491G>C n.876G>C c.2992G>C (p.Glu998Gln) c.1111G>C (p.Glu371Gln) c.457G>C (p.Glu153Gln) n.4437G>C | |
| 12 | g.40309111G>T | CA384417969 | LRRK2 | c.4195G>T (p.Glu1399Ter) c.*3104G>T (n.*3104G>T) c.3940G>T (p.Glu1314Ter) c.1491G>T n.876G>T c.2992G>T (p.Glu998Ter) c.1111G>T (p.Glu371Ter) c.457G>T (p.Glu153Ter) n.4437G>T | |
| 12 | g.40309112A>C | CA384417972 | LRRK2 | c.4196A>C (p.Glu1399Ala) c.*3105A>C (n.*3105A>C) c.3941A>C (p.Glu1314Ala) c.1492A>C n.877A>C c.2993A>C (p.Glu998Ala) c.1112A>C (p.Glu371Ala) c.458A>C (p.Glu153Ala) n.4438A>C | |
| 12 | g.40309112A>G | CA384417973 | LRRK2 | c.4196A>G (p.Glu1399Gly) c.*3105A>G (n.*3105A>G) c.3941A>G (p.Glu1314Gly) c.1492A>G n.877A>G c.2993A>G (p.Glu998Gly) c.1112A>G (p.Glu371Gly) c.458A>G (p.Glu153Gly) n.4438A>G | |
| 12 | g.40309112A>T | CA384417974 | LRRK2 | c.4196A>T (p.Glu1399Val) c.*3105A>T (n.*3105A>T) c.3941A>T (p.Glu1314Val) c.1492A>T n.877A>T c.2993A>T (p.Glu998Val) c.1112A>T (p.Glu371Val) c.458A>T (p.Glu153Val) n.4438A>T | |
| 12 | g.40309113G>A | CA479258962 | LRRK2 | c.4197G>A (p.Glu1399=) c.*3106G>A (n.*3106G>A) c.3942G>A (p.Glu1314=) c.1493G>A n.878G>A c.2994G>A (p.Glu998=) c.1113G>A (p.Glu371=) c.459G>A (p.Glu153=) n.4439G>A | |
| 12 | g.40309113G>C | CA384417975 | LRRK2 | c.4197G>C (p.Glu1399Asp) c.*3106G>C (n.*3106G>C) c.3942G>C (p.Glu1314Asp) c.1493G>C n.878G>C c.2994G>C (p.Glu998Asp) c.1113G>C (p.Glu371Asp) c.459G>C (p.Glu153Asp) n.4439G>C | |
| 12 | g.40309113G>T | CA384417976 | LRRK2 | c.4197G>T (p.Glu1399Asp) c.*3106G>T (n.*3106G>T) c.3942G>T (p.Glu1314Asp) c.1493G>T n.878G>T c.2994G>T (p.Glu998Asp) c.1113G>T (p.Glu371Asp) c.459G>T (p.Glu153Asp) n.4439G>T | |
| 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= |