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.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 |
| 12 | g.40309138T>A | CA384418029 | LRRK2 | c.4222T>A (p.Phe1408Ile) c.*3131T>A (n.*3131T>A) c.3967T>A (p.Phe1323Ile) c.1518T>A n.903T>A c.3019T>A (p.Phe1007Ile) c.1138T>A (p.Phe380Ile) c.484T>A (p.Phe162Ile) n.4464T>A | |
| 12 | g.40309138T>C | CA384418030 | LRRK2 | c.4222T>C (p.Phe1408Leu) c.*3131T>C (n.*3131T>C) c.3967T>C (p.Phe1323Leu) c.1518T>C n.903T>C c.3019T>C (p.Phe1007Leu) c.1138T>C (p.Phe380Leu) c.484T>C (p.Phe162Leu) n.4464T>C | |
| 12 | g.40309138T>G | CA384418031 | LRRK2 | c.4222T>G (p.Phe1408Val) c.*3131T>G (n.*3131T>G) c.3967T>G (p.Phe1323Val) c.1518T>G n.903T>G c.3019T>G (p.Phe1007Val) c.1138T>G (p.Phe380Val) c.484T>G (p.Phe162Val) n.4464T>G | |
| 12 | g.40309139T>A | CA384418034 | LRRK2 | c.4223T>A (p.Phe1408Tyr) c.*3132T>A (n.*3132T>A) c.3968T>A (p.Phe1323Tyr) c.1519T>A n.904T>A c.3020T>A (p.Phe1007Tyr) c.1139T>A (p.Phe380Tyr) c.485T>A (p.Phe162Tyr) n.4465T>A | |
| 12 | g.40309139T>C | CA384418032 | LRRK2 | c.4223T>C (p.Phe1408Ser) c.*3132T>C (n.*3132T>C) c.3968T>C (p.Phe1323Ser) c.1519T>C n.904T>C c.3020T>C (p.Phe1007Ser) c.1139T>C (p.Phe380Ser) c.485T>C (p.Phe162Ser) n.4465T>C | |
| 12 | g.40309139T>G | CA384418033 | LRRK2 | c.4223T>G (p.Phe1408Cys) c.*3132T>G (n.*3132T>G) c.3968T>G (p.Phe1323Cys) c.1519T>G n.904T>G c.3020T>G (p.Phe1007Cys) c.1139T>G (p.Phe380Cys) c.485T>G (p.Phe162Cys) n.4465T>G | |
| 12 | g.40309140T>A | CA384418035 | LRRK2 | c.4224T>A (p.Phe1408Leu) c.*3133T>A (n.*3133T>A) c.3969T>A (p.Phe1323Leu) c.1520T>A n.905T>A c.3021T>A (p.Phe1007Leu) c.1140T>A (p.Phe380Leu) c.486T>A (p.Phe162Leu) n.4466T>A | |
| 12 | g.40309140T>C | CA479259110 | LRRK2 | c.4224T>C (p.Phe1408=) c.*3133T>C (n.*3133T>C) c.3969T>C (p.Phe1323=) c.1520T>C n.905T>C c.3021T>C (p.Phe1007=) c.1140T>C (p.Phe380=) c.486T>C (p.Phe162=) n.4466T>C | |
| 12 | g.40309140T>G | CA384418036 | LRRK2 | c.4224T>G (p.Phe1408Leu) c.*3133T>G (n.*3133T>G) c.3969T>G (p.Phe1323Leu) c.1520T>G n.905T>G c.3021T>G (p.Phe1007Leu) c.1140T>G (p.Phe380Leu) c.486T>G (p.Phe162Leu) n.4466T>G | |
| 12 | g.40309141A>C | CA384418037 | LRRK2 | c.4225A>C (p.Met1409Leu) c.*3134A>C (n.*3134A>C) c.3970A>C (p.Met1324Leu) c.1521A>C n.906A>C c.3022A>C (p.Met1008Leu) c.1141A>C (p.Met381Leu) c.487A>C (p.Met163Leu) n.4467A>C | |
| 12 | g.40309141A>G | CA384418038 | LRRK2 | c.4225A>G (p.Met1409Val) c.*3134A>G (n.*3134A>G) c.3970A>G (p.Met1324Val) c.1521A>G n.906A>G c.3022A>G (p.Met1008Val) c.1141A>G (p.Met381Val) c.487A>G (p.Met163Val) n.4467A>G | ClinVar |
| 12 | g.40309141A>T | CA384418039 | LRRK2 | c.4225A>T (p.Met1409Leu) c.*3134A>T (n.*3134A>T) c.3970A>T (p.Met1324Leu) c.1521A>T n.906A>T c.3022A>T (p.Met1008Leu) c.1141A>T (p.Met381Leu) c.487A>T (p.Met163Leu) n.4467A>T | |
| 12 | g.40309142T>A | CA384418042 | LRRK2 | c.4226T>A (p.Met1409Lys) c.*3135T>A (n.*3135T>A) c.3971T>A (p.Met1324Lys) c.1522T>A n.907T>A c.3023T>A (p.Met1008Lys) c.1142T>A (p.Met381Lys) c.488T>A (p.Met163Lys) n.4468T>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.40309142T>C | CA384418040 | LRRK2 | c.4226T>C (p.Met1409Thr) c.*3135T>C (n.*3135T>C) c.3971T>C (p.Met1324Thr) c.1522T>C n.907T>C c.3023T>C (p.Met1008Thr) c.1142T>C (p.Met381Thr) c.488T>C (p.Met163Thr) n.4468T>C | |
| 12 | g.40309142T>G | CA384418041 | LRRK2 | c.4226T>G (p.Met1409Arg) c.*3135T>G (n.*3135T>G) c.3971T>G (p.Met1324Arg) c.1522T>G n.907T>G c.3023T>G (p.Met1008Arg) c.1142T>G (p.Met381Arg) c.488T>G (p.Met163Arg) n.4468T>G | |
| 12 | g.40309142T= | CA2031002737 | LRRK2 | c.4226T= (p.Met1409=) c.*3135T= (n.*3135T=) c.3971T= (p.Met1324=) c.1522T= n.907T= c.3023T= (p.Met1008=) c.1142T= (p.Met381=) c.488T= (p.Met163=) n.4468T= | |
| 12 | g.40309143G>A | CA384418043 | LRRK2 | c.4227G>A (p.Met1409Ile) c.*3136G>A (n.*3136G>A) c.3972G>A (p.Met1324Ile) c.1523G>A n.908G>A c.3024G>A (p.Met1008Ile) c.1143G>A (p.Met381Ile) c.489G>A (p.Met163Ile) n.4469G>A | |
| 12 | g.40309143G>C | CA384418044 | LRRK2 | c.4227G>C (p.Met1409Ile) c.*3136G>C (n.*3136G>C) c.3972G>C (p.Met1324Ile) c.1523G>C n.908G>C c.3024G>C (p.Met1008Ile) c.1143G>C (p.Met381Ile) c.489G>C (p.Met163Ile) n.4469G>C | |
| 12 | g.40309143G>T | CA384418045 | LRRK2 | c.4227G>T (p.Met1409Ile) c.*3136G>T (n.*3136G>T) c.3972G>T (p.Met1324Ile) c.1523G>T n.908G>T c.3024G>T (p.Met1008Ile) c.1143G>T (p.Met381Ile) c.489G>T (p.Met163Ile) n.4469G>T | |
| 12 | g.40309144A= | CA2031002762 | LRRK2 | c.4228A= (p.Thr1410=) c.*3137A= (n.*3137A=) c.3973A= (p.Thr1325=) c.1524A= n.909A= c.3025A= (p.Thr1009=) c.1144A= (p.Thr382=) c.490A= (p.Thr164=) n.4470A= | |
| 12 | g.40309144A>C | CA384418046 | LRRK2 | c.4228A>C (p.Thr1410Pro) c.*3137A>C (n.*3137A>C) c.3973A>C (p.Thr1325Pro) c.1524A>C n.909A>C c.3025A>C (p.Thr1009Pro) c.1144A>C (p.Thr382Pro) c.490A>C (p.Thr164Pro) n.4470A>C | |
| 12 | g.40309144A>G | CA6514119 | LRRK2 | c.4228A>G (p.Thr1410Ala) c.*3137A>G (n.*3137A>G) c.3973A>G (p.Thr1325Ala) c.1524A>G n.909A>G c.3025A>G (p.Thr1009Ala) c.1144A>G (p.Thr382Ala) c.490A>G (p.Thr164Ala) n.4470A>G | dbSNP ExAC gnomAD v2 |
| 12 | g.40309144A>T | CA384418047 | LRRK2 | c.4228A>T (p.Thr1410Ser) c.*3137A>T (n.*3137A>T) c.3973A>T (p.Thr1325Ser) c.1524A>T n.909A>T c.3025A>T (p.Thr1009Ser) c.1144A>T (p.Thr382Ser) c.490A>T (p.Thr164Ser) n.4470A>T | |
| 12 | g.40309145C>A | CA384418048 | LRRK2 | c.4229C>A (p.Thr1410Lys) c.*3138C>A (n.*3138C>A) c.3974C>A (p.Thr1325Lys) c.1525C>A n.910C>A c.3026C>A (p.Thr1009Lys) c.1145C>A (p.Thr382Lys) c.491C>A (p.Thr164Lys) n.4471C>A | COSMIC COSMIC |
| 12 | g.40309145C= | CA2031002770 | LRRK2 | c.4229C= (p.Thr1410=) c.*3138C= (n.*3138C=) c.3974C= (p.Thr1325=) c.1525C= n.910C= c.3026C= (p.Thr1009=) c.1145C= (p.Thr382=) c.491C= (p.Thr164=) n.4471C= | |
| 12 | g.40309145C>G | CA384418049 | LRRK2 | c.4229C>G (p.Thr1410Arg) c.*3138C>G (n.*3138C>G) c.3974C>G (p.Thr1325Arg) c.1525C>G n.910C>G c.3026C>G (p.Thr1009Arg) c.1145C>G (p.Thr382Arg) c.491C>G (p.Thr164Arg) n.4471C>G | |
| 12 | g.40309145C>T | CA343569 | LRRK2 | c.4229C>T (p.Thr1410Met) c.*3138C>T (n.*3138C>T) c.3974C>T (p.Thr1325Met) c.1525C>T n.910C>T c.3026C>T (p.Thr1009Met) c.1145C>T (p.Thr382Met) c.491C>T (p.Thr164Met) n.4471C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40309146G>A | CA6514120 | LRRK2 | c.4230G>A (p.Thr1410=) c.*3139G>A (n.*3139G>A) c.3975G>A (p.Thr1325=) c.1526G>A n.911G>A c.3027G>A (p.Thr1009=) c.1146G>A (p.Thr382=) c.492G>A (p.Thr164=) n.4472G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40309146G>C | CA479259139 | LRRK2 | c.4230G>C (p.Thr1410=) c.*3139G>C (n.*3139G>C) c.3975G>C (p.Thr1325=) c.1526G>C n.911G>C c.3027G>C (p.Thr1009=) c.1146G>C (p.Thr382=) c.492G>C (p.Thr164=) n.4472G>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.40309146G= | CA2031002778 | LRRK2 | c.4230G= (p.Thr1410=) c.*3139G= (n.*3139G=) c.3975G= (p.Thr1325=) c.1526G= n.911G= c.3027G= (p.Thr1009=) c.1146G= (p.Thr382=) c.492G= (p.Thr164=) n.4472G= | |
| 12 | g.40309146G>T | CA479259141 | LRRK2 | c.4230G>T (p.Thr1410=) c.*3139G>T (n.*3139G>T) c.3975G>T (p.Thr1325=) c.1526G>T n.911G>T c.3027G>T (p.Thr1009=) c.1146G>T (p.Thr382=) c.492G>T (p.Thr164=) n.4472G>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.40309147C>A | CA384418050 | LRRK2 | c.4231C>A (p.Gln1411Lys) c.*3140C>A (n.*3140C>A) c.3976C>A (p.Gln1326Lys) c.1527C>A n.912C>A c.3028C>A (p.Gln1010Lys) c.1147C>A (p.Gln383Lys) c.493C>A (p.Gln165Lys) n.4473C>A | |
| 12 | g.40309147C= | CA2031002789 | LRRK2 | c.4231C= (p.Gln1411=) c.*3140C= (n.*3140C=) c.3976C= (p.Gln1326=) c.1527C= n.912C= c.3028C= (p.Gln1010=) c.1147C= (p.Gln383=) c.493C= (p.Gln165=) n.4473C= | |
| 12 | g.40309147C>G | CA384418051 | LRRK2 | c.4231C>G (p.Gln1411Glu) c.*3140C>G (n.*3140C>G) c.3976C>G (p.Gln1326Glu) c.1527C>G n.912C>G c.3028C>G (p.Gln1010Glu) c.1147C>G (p.Gln383Glu) c.493C>G (p.Gln165Glu) n.4473C>G | |
| 12 | g.40309147C>T | CA384418052 | LRRK2 | c.4231C>T (p.Gln1411Ter) c.*3140C>T (n.*3140C>T) c.3976C>T (p.Gln1326Ter) c.1527C>T n.912C>T c.3028C>T (p.Gln1010Ter) c.1147C>T (p.Gln383Ter) c.493C>T (p.Gln165Ter) n.4473C>T | dbSNP gnomAD v4 |
| 12 | g.40309148A= | CA2031002794 | LRRK2 | c.4232A= (p.Gln1411=) c.*3141A= (n.*3141A=) c.3977A= (p.Gln1326=) c.1528A= n.913A= c.3029A= (p.Gln1010=) c.1148A= (p.Gln383=) c.494A= (p.Gln165=) n.4474A= | |
| 12 | g.40309148A>C | CA384418053 | LRRK2 | c.4232A>C (p.Gln1411Pro) c.*3141A>C (n.*3141A>C) c.3977A>C (p.Gln1326Pro) c.1528A>C n.913A>C c.3029A>C (p.Gln1010Pro) c.1148A>C (p.Gln383Pro) c.494A>C (p.Gln165Pro) n.4474A>C | |
| 12 | g.40309148A>G | CA384418055 | LRRK2 | c.4232A>G (p.Gln1411Arg) c.*3141A>G (n.*3141A>G) c.3977A>G (p.Gln1326Arg) c.1528A>G n.913A>G c.3029A>G (p.Gln1010Arg) c.1148A>G (p.Gln383Arg) c.494A>G (p.Gln165Arg) n.4474A>G | dbSNP |
| 12 | g.40309148A>T | CA384418054 | LRRK2 | c.4232A>T (p.Gln1411Leu) c.*3141A>T (n.*3141A>T) c.3977A>T (p.Gln1326Leu) c.1528A>T n.913A>T c.3029A>T (p.Gln1010Leu) c.1148A>T (p.Gln383Leu) c.494A>T (p.Gln165Leu) n.4474A>T | |
| 12 | g.40309149G>A | CA6514121 | LRRK2 | c.4233G>A (p.Gln1411=) c.*3142G>A (n.*3142G>A) c.3978G>A (p.Gln1326=) c.1529G>A n.914G>A c.3030G>A (p.Gln1010=) c.1149G>A (p.Gln383=) c.495G>A (p.Gln165=) n.4475G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40309149G>C | CA384418056 | LRRK2 | c.4233G>C (p.Gln1411His) c.*3142G>C (n.*3142G>C) c.3978G>C (p.Gln1326His) c.1529G>C n.914G>C c.3030G>C (p.Gln1010His) c.1149G>C (p.Gln383His) c.495G>C (p.Gln165His) n.4475G>C | |
| 12 | g.40309149G= | CA2031002817 | LRRK2 | c.4233G= (p.Gln1411=) c.*3142G= (n.*3142G=) c.3978G= (p.Gln1326=) c.1529G= n.914G= c.3030G= (p.Gln1010=) c.1149G= (p.Gln383=) c.495G= (p.Gln165=) n.4475G= | |
| 12 | g.40309149G>T | CA384418057 | LRRK2 | c.4233G>T (p.Gln1411His) c.*3142G>T (n.*3142G>T) c.3978G>T (p.Gln1326His) c.1529G>T n.914G>T c.3030G>T (p.Gln1010His) c.1149G>T (p.Gln383His) c.495G>T (p.Gln165His) n.4475G>T | |
| 12 | g.40309150C>A | CA479259156 | LRRK2 | c.4234C>A (p.Arg1412=) c.*3143C>A (n.*3143C>A) c.3979C>A (p.Arg1327=) c.1530C>A n.915C>A c.3031C>A (p.Arg1011=) c.1150C>A (p.Arg384=) c.496C>A (p.Arg166=) n.4476C>A | gnomAD v4 |
| 12 | g.40309150C= | CA2031002821 | LRRK2 | c.4234C= (p.Arg1412=) c.*3143C= (n.*3143C=) c.3979C= (p.Arg1327=) c.1530C= n.915C= c.3031C= (p.Arg1011=) c.1150C= (p.Arg384=) c.496C= (p.Arg166=) n.4476C= | |
| 12 | g.40309150C>G | CA384418058 | LRRK2 | c.4234C>G (p.Arg1412Gly) c.*3143C>G (n.*3143C>G) c.3979C>G (p.Arg1327Gly) c.1530C>G n.915C>G c.3031C>G (p.Arg1011Gly) c.1150C>G (p.Arg384Gly) c.496C>G (p.Arg166Gly) n.4476C>G | |
| 12 | g.40309150C>T | CA384418059 | LRRK2 | c.4234C>T (p.Arg1412Ter) c.*3143C>T (n.*3143C>T) c.3979C>T (p.Arg1327Ter) c.1530C>T n.915C>T c.3031C>T (p.Arg1011Ter) c.1150C>T (p.Arg384Ter) c.496C>T (p.Arg166Ter) n.4476C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.40309151G>A | CA6514122 | LRRK2 | c.4235G>A (p.Arg1412Gln) c.*3144G>A (n.*3144G>A) c.3980G>A (p.Arg1327Gln) c.1531G>A n.916G>A c.3032G>A (p.Arg1011Gln) c.1151G>A (p.Arg384Gln) c.497G>A (p.Arg166Gln) n.4477G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.40309151G>C | CA384418060 | LRRK2 | c.4235G>C (p.Arg1412Pro) c.*3144G>C (n.*3144G>C) c.3980G>C (p.Arg1327Pro) c.1531G>C n.916G>C c.3032G>C (p.Arg1011Pro) c.1151G>C (p.Arg384Pro) c.497G>C (p.Arg166Pro) n.4477G>C | |
| 12 | g.40309151G= | CA2031002826 | LRRK2 | c.4235G= (p.Arg1412=) c.*3144G= (n.*3144G=) c.3980G= (p.Arg1327=) c.1531G= n.916G= c.3032G= (p.Arg1011=) c.1151G= (p.Arg384=) c.497G= (p.Arg166=) n.4477G= | |
| 12 | g.40309151G>T | CA384418061 | LRRK2 | c.4235G>T (p.Arg1412Leu) c.*3144G>T (n.*3144G>T) c.3980G>T (p.Arg1327Leu) c.1531G>T n.916G>T c.3032G>T (p.Arg1011Leu) c.1151G>T (p.Arg384Leu) c.497G>T (p.Arg166Leu) n.4477G>T | |
| 12 | g.40309152A>C | CA479259178 | LRRK2 | c.4236A>C (p.Arg1412=) c.*3145A>C (n.*3145A>C) c.3981A>C (p.Arg1327=) c.1532A>C n.917A>C c.3033A>C (p.Arg1011=) c.1152A>C (p.Arg384=) c.498A>C (p.Arg166=) n.4478A>C | |
| 12 | g.40309152A>G | CA479259181 | LRRK2 | c.4236A>G (p.Arg1412=) c.*3145A>G (n.*3145A>G) c.3981A>G (p.Arg1327=) c.1532A>G n.917A>G c.3033A>G (p.Arg1011=) c.1152A>G (p.Arg384=) c.498A>G (p.Arg166=) n.4478A>G | |
| 12 | g.40309152A>T | CA479259185 | LRRK2 | c.4236A>T (p.Arg1412=) c.*3145A>T (n.*3145A>T) c.3981A>T (p.Arg1327=) c.1532A>T n.917A>T c.3033A>T (p.Arg1011=) c.1152A>T (p.Arg384=) c.498A>T (p.Arg166=) n.4478A>T | |
| 12 | g.40309153G>A | CA384418062 | LRRK2 | c.4237G>A (p.Ala1413Thr) c.*3146G>A (n.*3146G>A) c.3982G>A (p.Ala1328Thr) c.1533G>A n.918G>A c.3034G>A (p.Ala1012Thr) c.1153G>A (p.Ala385Thr) c.499G>A (p.Ala167Thr) n.4479G>A | gnomAD v4 |
| 12 | g.40309153G>C | CA384418063 | LRRK2 | c.4237G>C (p.Ala1413Pro) c.*3146G>C (n.*3146G>C) c.3982G>C (p.Ala1328Pro) c.1533G>C n.918G>C c.3034G>C (p.Ala1012Pro) c.1153G>C (p.Ala385Pro) c.499G>C (p.Ala167Pro) n.4479G>C | |
| 12 | g.40309153G>T | CA384418064 | LRRK2 | c.4237G>T (p.Ala1413Ser) c.*3146G>T (n.*3146G>T) c.3982G>T (p.Ala1328Ser) c.1533G>T n.918G>T c.3034G>T (p.Ala1012Ser) c.1153G>T (p.Ala385Ser) c.499G>T (p.Ala167Ser) n.4479G>T | |
| 12 | g.40309154C>A | CA384418065 | LRRK2 | c.4238C>A (p.Ala1413Glu) c.*3147C>A (n.*3147C>A) c.3983C>A (p.Ala1328Glu) c.1534C>A n.919C>A c.3035C>A (p.Ala1012Glu) c.1154C>A (p.Ala385Glu) c.500C>A (p.Ala167Glu) n.4480C>A | ClinVar gnomAD v4 |
| 12 | g.40309154C>G | CA384418066 | LRRK2 | c.4238C>G (p.Ala1413Gly) c.*3147C>G (n.*3147C>G) c.3983C>G (p.Ala1328Gly) c.1534C>G n.919C>G c.3035C>G (p.Ala1012Gly) c.1154C>G (p.Ala385Gly) c.500C>G (p.Ala167Gly) n.4480C>G | |
| 12 | g.40309154C>T | CA384418067 | LRRK2 | c.4238C>T (p.Ala1413Val) c.*3147C>T (n.*3147C>T) c.3983C>T (p.Ala1328Val) c.1534C>T n.919C>T c.3035C>T (p.Ala1012Val) c.1154C>T (p.Ala385Val) c.500C>T (p.Ala167Val) n.4480C>T | |
| 12 | g.40309155A= | CA2031002830 | LRRK2 | c.4239A= (p.Ala1413=) c.*3148A= (n.*3148A=) c.3984A= (p.Ala1328=) c.1535A= n.920A= c.3036A= (p.Ala1012=) c.1155A= (p.Ala385=) c.501A= (p.Ala167=) n.4481A= | |
| 12 | g.40309155A>C | CA479259200 | LRRK2 | c.4239A>C (p.Ala1413=) c.*3148A>C (n.*3148A>C) c.3984A>C (p.Ala1328=) c.1535A>C n.920A>C c.3036A>C (p.Ala1012=) c.1155A>C (p.Ala385=) c.501A>C (p.Ala167=) n.4481A>C | |
| 12 | g.40309155A>G | CA479259204 | LRRK2 | c.4239A>G (p.Ala1413=) c.*3148A>G (n.*3148A>G) c.3984A>G (p.Ala1328=) c.1535A>G n.920A>G c.3036A>G (p.Ala1012=) c.1155A>G (p.Ala385=) c.501A>G (p.Ala167=) n.4481A>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.40309155A>T | CA479259202 | LRRK2 | c.4239A>T (p.Ala1413=) c.*3148A>T (n.*3148A>T) c.3984A>T (p.Ala1328=) c.1535A>T n.920A>T c.3036A>T (p.Ala1012=) c.1155A>T (p.Ala385=) c.501A>T (p.Ala167=) n.4481A>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.40309156T>A | CA384418068 | LRRK2 | c.4240T>A (p.Leu1414Met) c.*3149T>A (n.*3149T>A) c.3985T>A (p.Leu1329Met) c.1536T>A n.921T>A c.3037T>A (p.Leu1013Met) c.1156T>A (p.Leu386Met) c.502T>A (p.Leu168Met) n.4482T>A | gnomAD v4 |
| 12 | g.40309156T>C | CA479259212 | LRRK2 | c.4240T>C (p.Leu1414=) c.*3149T>C (n.*3149T>C) c.3985T>C (p.Leu1329=) c.1536T>C n.921T>C c.3037T>C (p.Leu1013=) c.1156T>C (p.Leu386=) c.502T>C (p.Leu168=) n.4482T>C | gnomAD v4 |
| 12 | g.40309156T>G | CA384418069 | LRRK2 | c.4240T>G (p.Leu1414Val) c.*3149T>G (n.*3149T>G) c.3985T>G (p.Leu1329Val) c.1536T>G n.921T>G c.3037T>G (p.Leu1013Val) c.1156T>G (p.Leu386Val) c.502T>G (p.Leu168Val) n.4482T>G | |
| 12 | g.40309157T>A | CA384418070 | LRRK2 | c.4241T>A (p.Leu1414Ter) c.*3150T>A (n.*3150T>A) c.3986T>A (p.Leu1329Ter) c.1537T>A n.922T>A c.3038T>A (p.Leu1013Ter) c.1157T>A (p.Leu386Ter) c.503T>A (p.Leu168Ter) n.4483T>A | |
| 12 | g.40309157T>C | CA6514123 | LRRK2 | c.4241T>C (p.Leu1414Ser) c.*3150T>C (n.*3150T>C) c.3986T>C (p.Leu1329Ser) c.1537T>C n.922T>C c.3038T>C (p.Leu1013Ser) c.1157T>C (p.Leu386Ser) c.503T>C (p.Leu168Ser) n.4483T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.40309157T>G | CA384418071 | LRRK2 | c.4241T>G (p.Leu1414Trp) c.*3150T>G (n.*3150T>G) c.3986T>G (p.Leu1329Trp) c.1537T>G n.922T>G c.3038T>G (p.Leu1013Trp) c.1157T>G (p.Leu386Trp) c.503T>G (p.Leu168Trp) n.4483T>G | |
| 12 | g.40309157T= | CA2031002840 | LRRK2 | c.4241T= (p.Leu1414=) c.*3150T= (n.*3150T=) c.3986T= (p.Leu1329=) c.1537T= n.922T= c.3038T= (p.Leu1013=) c.1157T= (p.Leu386=) c.503T= (p.Leu168=) n.4483T= | |
| 12 | g.40309158G>A | CA479259224 | LRRK2 | c.4242G>A (p.Leu1414=) c.*3151G>A (n.*3151G>A) c.3987G>A (p.Leu1329=) c.1538G>A n.923G>A c.3039G>A (p.Leu1013=) c.1158G>A (p.Leu386=) c.504G>A (p.Leu168=) n.4484G>A | gnomAD v4 |
| 12 | g.40309158G>C | CA384418072 | LRRK2 | c.4242G>C (p.Leu1414Phe) c.*3151G>C (n.*3151G>C) c.3987G>C (p.Leu1329Phe) c.1538G>C n.923G>C c.3039G>C (p.Leu1013Phe) c.1158G>C (p.Leu386Phe) c.504G>C (p.Leu168Phe) n.4484G>C | |
| 12 | g.40309158G>T | CA384418073 | LRRK2 | c.4242G>T (p.Leu1414Phe) c.*3151G>T (n.*3151G>T) c.3987G>T (p.Leu1329Phe) c.1538G>T n.923G>T c.3039G>T (p.Leu1013Phe) c.1158G>T (p.Leu386Phe) c.504G>T (p.Leu168Phe) n.4484G>T | |
| 12 | g.40309159T>A | CA384418074 | LRRK2 | c.4243T>A (p.Tyr1415Asn) c.*3152T>A (n.*3152T>A) c.3988T>A (p.Tyr1330Asn) c.1539T>A n.924T>A c.3040T>A (p.Tyr1014Asn) c.1159T>A (p.Tyr387Asn) c.505T>A (p.Tyr169Asn) n.4485T>A | |
| 12 | g.40309159T>C | CA384418075 | LRRK2 | c.4243T>C (p.Tyr1415His) c.*3152T>C (n.*3152T>C) c.3988T>C (p.Tyr1330His) c.1539T>C n.924T>C c.3040T>C (p.Tyr1014His) c.1159T>C (p.Tyr387His) c.505T>C (p.Tyr169His) n.4485T>C | |
| 12 | g.40309159T>G | CA384418076 | LRRK2 | c.4243T>G (p.Tyr1415Asp) c.*3152T>G (n.*3152T>G) c.3988T>G (p.Tyr1330Asp) c.1539T>G n.924T>G c.3040T>G (p.Tyr1014Asp) c.1159T>G (p.Tyr387Asp) c.505T>G (p.Tyr169Asp) n.4485T>G | |
| 12 | g.40309160A>C | CA384418077 | LRRK2 | c.4244A>C (p.Tyr1415Ser) c.*3153A>C (n.*3153A>C) c.3989A>C (p.Tyr1330Ser) c.1540A>C n.925A>C c.3041A>C (p.Tyr1014Ser) c.1160A>C (p.Tyr387Ser) c.506A>C (p.Tyr169Ser) n.4486A>C | ClinVar |
| 12 | g.40309160A>G | CA384418078 | LRRK2 | c.4244A>G (p.Tyr1415Cys) c.*3153A>G (n.*3153A>G) c.3989A>G (p.Tyr1330Cys) c.1540A>G n.925A>G c.3041A>G (p.Tyr1014Cys) c.1160A>G (p.Tyr387Cys) c.506A>G (p.Tyr169Cys) n.4486A>G | |
| 12 | g.40309160A>T | CA384418079 | LRRK2 | c.4244A>T (p.Tyr1415Phe) c.*3153A>T (n.*3153A>T) c.3989A>T (p.Tyr1330Phe) c.1540A>T n.925A>T c.3041A>T (p.Tyr1014Phe) c.1160A>T (p.Tyr387Phe) c.506A>T (p.Tyr169Phe) n.4486A>T | |
| 12 | g.40309161C>A | CA384418080 | LRRK2 | c.4245C>A (p.Tyr1415Ter) c.*3154C>A (n.*3154C>A) c.3990C>A (p.Tyr1330Ter) c.1541C>A n.926C>A c.3042C>A (p.Tyr1014Ter) c.1161C>A (p.Tyr387Ter) c.507C>A (p.Tyr169Ter) n.4487C>A | |
| 12 | g.40309161C= | CA2031002849 | LRRK2 | c.4245C= (p.Tyr1415=) c.*3154C= (n.*3154C=) c.3990C= (p.Tyr1330=) c.1541C= n.926C= c.3042C= (p.Tyr1014=) c.1161C= (p.Tyr387=) c.507C= (p.Tyr169=) n.4487C= | |
| 12 | g.40309161C>G | CA384418081 | LRRK2 | c.4245C>G (p.Tyr1415Ter) c.*3154C>G (n.*3154C>G) c.3990C>G (p.Tyr1330Ter) c.1541C>G n.926C>G c.3042C>G (p.Tyr1014Ter) c.1161C>G (p.Tyr387Ter) c.507C>G (p.Tyr169Ter) n.4487C>G | |
| 12 | g.40309161C>T | CA235357336 | LRRK2 | c.4245C>T (p.Tyr1415=) c.*3154C>T (n.*3154C>T) c.3990C>T (p.Tyr1330=) c.1541C>T n.926C>T c.3042C>T (p.Tyr1014=) c.1161C>T (p.Tyr387=) c.507C>T (p.Tyr169=) n.4487C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40309162C>A | CA384418082 | LRRK2 | c.4246C>A (p.Leu1416Ile) c.*3155C>A (n.*3155C>A) c.3991C>A (p.Leu1331Ile) c.1542C>A n.927C>A c.3043C>A (p.Leu1015Ile) c.1162C>A (p.Leu388Ile) c.508C>A (p.Leu170Ile) n.4488C>A | |
| 12 | g.40309162C>G | CA384418084 | LRRK2 | c.4246C>G (p.Leu1416Val) c.*3155C>G (n.*3155C>G) c.3991C>G (p.Leu1331Val) c.1542C>G n.927C>G c.3043C>G (p.Leu1015Val) c.1162C>G (p.Leu388Val) c.508C>G (p.Leu170Val) n.4488C>G | |
| 12 | g.40309162C>T | CA384418083 | LRRK2 | c.4246C>T (p.Leu1416Phe) c.*3155C>T (n.*3155C>T) c.3991C>T (p.Leu1331Phe) c.1542C>T n.927C>T c.3043C>T (p.Leu1015Phe) c.1162C>T (p.Leu388Phe) c.508C>T (p.Leu170Phe) n.4488C>T | gnomAD v4 |
| 12 | g.40309163T>A | CA384418085 | LRRK2 | c.4247T>A (p.Leu1416His) c.*3156T>A (n.*3156T>A) c.3992T>A (p.Leu1331His) c.1543T>A n.928T>A c.3044T>A (p.Leu1015His) c.1163T>A (p.Leu388His) c.509T>A (p.Leu170His) n.4489T>A | |
| 12 | g.40309163T>C | CA384418087 | LRRK2 | c.4247T>C (p.Leu1416Pro) c.*3156T>C (n.*3156T>C) c.3992T>C (p.Leu1331Pro) c.1543T>C n.928T>C c.3044T>C (p.Leu1015Pro) c.1163T>C (p.Leu388Pro) c.509T>C (p.Leu170Pro) n.4489T>C | |
| 12 | g.40309163T>G | CA384418086 | LRRK2 | c.4247T>G (p.Leu1416Arg) c.*3156T>G (n.*3156T>G) c.3992T>G (p.Leu1331Arg) c.1543T>G n.928T>G c.3044T>G (p.Leu1015Arg) c.1163T>G (p.Leu388Arg) c.509T>G (p.Leu170Arg) n.4489T>G | |
| 12 | g.40309164T>A | CA479259262 | LRRK2 | c.4248T>A (p.Leu1416=) c.*3157T>A (n.*3157T>A) c.3993T>A (p.Leu1331=) c.1544T>A n.929T>A c.3045T>A (p.Leu1015=) c.1164T>A (p.Leu388=) c.510T>A (p.Leu170=) n.4490T>A | |
| 12 | g.40309164T>C | CA479259259 | LRRK2 | c.4248T>C (p.Leu1416=) c.*3157T>C (n.*3157T>C) c.3993T>C (p.Leu1331=) c.1544T>C n.929T>C c.3045T>C (p.Leu1015=) c.1164T>C (p.Leu388=) c.510T>C (p.Leu170=) n.4490T>C | |
| 12 | g.40309164T>G | CA479259261 | LRRK2 | c.4248T>G (p.Leu1416=) c.*3157T>G (n.*3157T>G) c.3993T>G (p.Leu1331=) c.1544T>G n.929T>G c.3045T>G (p.Leu1015=) c.1164T>G (p.Leu388=) c.510T>G (p.Leu170=) n.4490T>G | |
| 12 | g.40309165G>A | CA384418088 | LRRK2 | c.4249G>A (p.Ala1417Thr) c.*3158G>A (n.*3158G>A) c.3994G>A (p.Ala1332Thr) c.1545G>A n.930G>A c.3046G>A (p.Ala1016Thr) c.1165G>A (p.Ala389Thr) c.511G>A (p.Ala171Thr) n.4491G>A | |
| 12 | g.40309165G>C | CA384418089 | LRRK2 | c.4249G>C (p.Ala1417Pro) c.*3158G>C (n.*3158G>C) c.3994G>C (p.Ala1332Pro) c.1545G>C n.930G>C c.3046G>C (p.Ala1016Pro) c.1165G>C (p.Ala389Pro) c.511G>C (p.Ala171Pro) n.4491G>C | |
| 12 | g.40309165G>T | CA384418090 | LRRK2 | c.4249G>T (p.Ala1417Ser) c.*3158G>T (n.*3158G>T) c.3994G>T (p.Ala1332Ser) c.1545G>T n.930G>T c.3046G>T (p.Ala1016Ser) c.1165G>T (p.Ala389Ser) c.511G>T (p.Ala171Ser) n.4491G>T | COSMIC COSMIC |
| 12 | g.40309166C>A | CA384418091 | LRRK2 | c.4250C>A (p.Ala1417Asp) c.*3159C>A (n.*3159C>A) c.3995C>A (p.Ala1332Asp) c.1546C>A n.931C>A c.3047C>A (p.Ala1016Asp) c.1166C>A (p.Ala389Asp) c.512C>A (p.Ala171Asp) n.4492C>A | |
| 12 | g.40309166C= | CA2031002862 | LRRK2 | c.4250C= (p.Ala1417=) c.*3159C= (n.*3159C=) c.3995C= (p.Ala1332=) c.1546C= n.931C= c.3047C= (p.Ala1016=) c.1166C= (p.Ala389=) c.512C= (p.Ala171=) n.4492C= | |
| 12 | g.40309166C>G | CA384418092 | LRRK2 | c.4250C>G (p.Ala1417Gly) c.*3159C>G (n.*3159C>G) c.3995C>G (p.Ala1332Gly) c.1546C>G n.931C>G c.3047C>G (p.Ala1016Gly) c.1166C>G (p.Ala389Gly) c.512C>G (p.Ala171Gly) n.4492C>G | |
| 12 | g.40309166C>T | CA384418093 | LRRK2 | c.4250C>T (p.Ala1417Val) c.*3159C>T (n.*3159C>T) c.3995C>T (p.Ala1332Val) c.1546C>T n.931C>T c.3047C>T (p.Ala1016Val) c.1166C>T (p.Ala389Val) c.512C>T (p.Ala171Val) n.4492C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.40309167T>A | CA479259280 | LRRK2 | c.4251T>A (p.Ala1417=) c.*3160T>A (n.*3160T>A) c.3996T>A (p.Ala1332=) c.1547T>A n.932T>A c.3048T>A (p.Ala1016=) c.1167T>A (p.Ala389=) c.513T>A (p.Ala171=) n.4493T>A | |
| 12 | g.40309167T>C | CA479259283 | LRRK2 | c.4251T>C (p.Ala1417=) c.*3160T>C (n.*3160T>C) c.3996T>C (p.Ala1332=) c.1547T>C n.932T>C c.3048T>C (p.Ala1016=) c.1167T>C (p.Ala389=) c.513T>C (p.Ala171=) n.4493T>C | |
| 12 | g.40309167T>G | CA479259285 | LRRK2 | c.4251T>G (p.Ala1417=) c.*3160T>G (n.*3160T>G) c.3996T>G (p.Ala1332=) c.1547T>G n.932T>G c.3048T>G (p.Ala1016=) c.1167T>G (p.Ala389=) c.513T>G (p.Ala171=) n.4493T>G | |
| 12 | g.40309168G>A | CA384418094 | LRRK2 | c.4252G>A (p.Val1418Ile) c.*3161G>A (n.*3161G>A) c.3997G>A (p.Val1333Ile) c.1548G>A n.933G>A c.3049G>A (p.Val1017Ile) c.1168G>A (p.Val390Ile) c.514G>A (p.Val172Ile) n.4494G>A | ClinVar |
| 12 | g.40309168G>C | CA384418095 | LRRK2 | c.4252G>C (p.Val1418Leu) c.*3161G>C (n.*3161G>C) c.3997G>C (p.Val1333Leu) c.1548G>C n.933G>C c.3049G>C (p.Val1017Leu) c.1168G>C (p.Val390Leu) c.514G>C (p.Val172Leu) n.4494G>C | |
| 12 | g.40309168G>T | CA384418096 | LRRK2 | c.4252G>T (p.Val1418Phe) c.*3161G>T (n.*3161G>T) c.3997G>T (p.Val1333Phe) c.1548G>T n.933G>T c.3049G>T (p.Val1017Phe) c.1168G>T (p.Val390Phe) c.514G>T (p.Val172Phe) n.4494G>T | |
| 12 | g.40309169T>A | CA384418099 | LRRK2 | c.4253T>A (p.Val1418Asp) c.*3162T>A (n.*3162T>A) c.3998T>A (p.Val1333Asp) c.1549T>A n.934T>A c.3050T>A (p.Val1017Asp) c.1169T>A (p.Val390Asp) c.515T>A (p.Val172Asp) n.4495T>A | |
| 12 | g.40309169T>C | CA384418098 | LRRK2 | c.4253T>C (p.Val1418Ala) c.*3162T>C (n.*3162T>C) c.3998T>C (p.Val1333Ala) c.1549T>C n.934T>C c.3050T>C (p.Val1017Ala) c.1169T>C (p.Val390Ala) c.515T>C (p.Val172Ala) n.4495T>C | |
| 12 | g.40309169T>G | CA384418097 | LRRK2 | c.4253T>G (p.Val1418Gly) c.*3162T>G (n.*3162T>G) c.3998T>G (p.Val1333Gly) c.1549T>G n.934T>G c.3050T>G (p.Val1017Gly) c.1169T>G (p.Val390Gly) c.515T>G (p.Val172Gly) n.4495T>G | |
| 12 | g.40309170C>A | CA479259299 | LRRK2 | c.4254C>A (p.Val1418=) c.*3163C>A (n.*3163C>A) c.3999C>A (p.Val1333=) c.1550C>A n.935C>A c.3051C>A (p.Val1017=) c.1170C>A (p.Val390=) c.516C>A (p.Val172=) n.4496C>A | |
| 12 | g.40309170C>G | CA479259301 | LRRK2 | c.4254C>G (p.Val1418=) c.*3163C>G (n.*3163C>G) c.3999C>G (p.Val1333=) c.1550C>G n.935C>G c.3051C>G (p.Val1017=) c.1170C>G (p.Val390=) c.516C>G (p.Val172=) n.4496C>G | |
| 12 | g.40309170C>T | CA479259303 | LRRK2 | c.4254C>T (p.Val1418=) c.*3163C>T (n.*3163C>T) c.3999C>T (p.Val1333=) c.1550C>T n.935C>T c.3051C>T (p.Val1017=) c.1170C>T (p.Val390=) c.516C>T (p.Val172=) n.4496C>T | |
| 12 | g.40309171T>A | CA384418100 | LRRK2 | c.4255T>A (p.Tyr1419Asn) c.*3164T>A (n.*3164T>A) c.4000T>A (p.Tyr1334Asn) c.1551T>A n.936T>A c.3052T>A (p.Tyr1018Asn) c.1171T>A (p.Tyr391Asn) c.517T>A (p.Tyr173Asn) n.4497T>A | |
| 12 | g.40309171T>C | CA384418101 | LRRK2 | c.4255T>C (p.Tyr1419His) c.*3164T>C (n.*3164T>C) c.4000T>C (p.Tyr1334His) c.1551T>C n.936T>C c.3052T>C (p.Tyr1018His) c.1171T>C (p.Tyr391His) c.517T>C (p.Tyr173His) n.4497T>C | COSMIC COSMIC |
| 12 | g.40309171T>G | CA384418102 | LRRK2 | c.4255T>G (p.Tyr1419Asp) c.*3164T>G (n.*3164T>G) c.4000T>G (p.Tyr1334Asp) c.1551T>G n.936T>G c.3052T>G (p.Tyr1018Asp) c.1171T>G (p.Tyr391Asp) c.517T>G (p.Tyr173Asp) n.4497T>G | |
| 12 | g.40309172A= | CA2031002873 | LRRK2 | c.4256A= (p.Tyr1419=) c.*3165A= (n.*3165A=) c.4001A= (p.Tyr1334=) c.1552A= n.937A= c.3053A= (p.Tyr1018=) c.1172A= (p.Tyr391=) c.518A= (p.Tyr173=) n.4498A= | |
| 12 | g.40309172A>C | CA384418103 | LRRK2 | c.4256A>C (p.Tyr1419Ser) c.*3165A>C (n.*3165A>C) c.4001A>C (p.Tyr1334Ser) c.1552A>C n.937A>C c.3053A>C (p.Tyr1018Ser) c.1172A>C (p.Tyr391Ser) c.518A>C (p.Tyr173Ser) n.4498A>C | |
| 12 | g.40309172A>G | CA6514124 | LRRK2 | c.4256A>G (p.Tyr1419Cys) c.*3165A>G (n.*3165A>G) c.4001A>G (p.Tyr1334Cys) c.1552A>G n.937A>G c.3053A>G (p.Tyr1018Cys) c.1172A>G (p.Tyr391Cys) c.518A>G (p.Tyr173Cys) n.4498A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40309172A>T | CA384418104 | LRRK2 | c.4256A>T (p.Tyr1419Phe) c.*3165A>T (n.*3165A>T) c.4001A>T (p.Tyr1334Phe) c.1552A>T n.937A>T c.3053A>T (p.Tyr1018Phe) c.1172A>T (p.Tyr391Phe) c.518A>T (p.Tyr173Phe) n.4498A>T | |
| 12 | g.40309173T>A | CA384418105 | LRRK2 | c.4257T>A (p.Tyr1419Ter) c.*3166T>A (n.*3166T>A) c.4002T>A (p.Tyr1334Ter) c.1553T>A n.938T>A c.3054T>A (p.Tyr1018Ter) c.1173T>A (p.Tyr391Ter) c.519T>A (p.Tyr173Ter) n.4499T>A | |
| 12 | g.40309173T>C | CA479259317 | LRRK2 | c.4257T>C (p.Tyr1419=) c.*3166T>C (n.*3166T>C) c.4002T>C (p.Tyr1334=) c.1553T>C n.938T>C c.3054T>C (p.Tyr1018=) c.1173T>C (p.Tyr391=) c.519T>C (p.Tyr173=) n.4499T>C | |
| 12 | g.40309173T>G | CA384418106 | LRRK2 | c.4257T>G (p.Tyr1419Ter) c.*3166T>G (n.*3166T>G) c.4002T>G (p.Tyr1334Ter) c.1553T>G n.938T>G c.3054T>G (p.Tyr1018Ter) c.1173T>G (p.Tyr391Ter) c.519T>G (p.Tyr173Ter) n.4499T>G | |
| 12 | g.40309174G>A | CA343571 | LRRK2 | c.4258G>A (p.Asp1420Asn) c.*3167G>A (n.*3167G>A) c.4003G>A (p.Asp1335Asn) c.1554G>A n.939G>A c.3055G>A (p.Asp1019Asn) c.1174G>A (p.Asp392Asn) c.520G>A (p.Asp174Asn) n.4500G>A | ClinVar dbSNP |
| 12 | g.40309174G>C | CA6514125 | LRRK2 | c.4258G>C (p.Asp1420His) c.*3167G>C (n.*3167G>C) c.4003G>C (p.Asp1335His) c.1554G>C n.939G>C c.3055G>C (p.Asp1019His) c.1174G>C (p.Asp392His) c.520G>C (p.Asp174His) n.4500G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40309174G= | CA2031002878 | LRRK2 | c.4258G= (p.Asp1420=) c.*3167G= (n.*3167G=) c.4003G= (p.Asp1335=) c.1554G= n.939G= c.3055G= (p.Asp1019=) c.1174G= (p.Asp392=) c.520G= (p.Asp174=) n.4500G= | |
| 12 | g.40309174G>T | CA384418107 | LRRK2 | c.4258G>T (p.Asp1420Tyr) c.*3167G>T (n.*3167G>T) c.4003G>T (p.Asp1335Tyr) c.1554G>T n.939G>T c.3055G>T (p.Asp1019Tyr) c.1174G>T (p.Asp392Tyr) c.520G>T (p.Asp174Tyr) n.4500G>T | gnomAD v4 |
| 12 | g.40309175A>C | CA384418109 | LRRK2 | c.4259A>C (p.Asp1420Ala) c.*3168A>C (n.*3168A>C) c.4004A>C (p.Asp1335Ala) c.1555A>C n.940A>C c.3056A>C (p.Asp1019Ala) c.1175A>C (p.Asp392Ala) c.521A>C (p.Asp174Ala) n.4501A>C | ClinVar |
| 12 | g.40309175A>G | CA384418110 | LRRK2 | c.4259A>G (p.Asp1420Gly) c.*3168A>G (n.*3168A>G) c.4004A>G (p.Asp1335Gly) c.1555A>G n.940A>G c.3056A>G (p.Asp1019Gly) c.1175A>G (p.Asp392Gly) c.521A>G (p.Asp174Gly) n.4501A>G | ClinVar |
| 12 | g.40309175A>T | CA384418108 | LRRK2 | c.4259A>T (p.Asp1420Val) c.*3168A>T (n.*3168A>T) c.4004A>T (p.Asp1335Val) c.1555A>T n.940A>T c.3056A>T (p.Asp1019Val) c.1175A>T (p.Asp392Val) c.521A>T (p.Asp174Val) n.4501A>T | |
| 12 | g.40309176C>A | CA384418111 | LRRK2 | c.4260C>A (p.Asp1420Glu) c.*3169C>A (n.*3169C>A) c.4005C>A (p.Asp1335Glu) c.1556C>A n.941C>A c.3057C>A (p.Asp1019Glu) c.1176C>A (p.Asp392Glu) c.522C>A (p.Asp174Glu) n.4502C>A | |
| 12 | g.40309176C>G | CA384418112 | LRRK2 | c.4260C>G (p.Asp1420Glu) c.*3169C>G (n.*3169C>G) c.4005C>G (p.Asp1335Glu) c.1556C>G n.941C>G c.3057C>G (p.Asp1019Glu) c.1176C>G (p.Asp392Glu) c.522C>G (p.Asp174Glu) n.4502C>G | |
| 12 | g.40309176C>T | CA479259335 | LRRK2 | c.4260C>T (p.Asp1420=) c.*3169C>T (n.*3169C>T) c.4005C>T (p.Asp1335=) c.1556C>T n.941C>T c.3057C>T (p.Asp1019=) c.1176C>T (p.Asp392=) c.522C>T (p.Asp174=) n.4502C>T | ClinVar |
| 12 | g.40309177C>A | CA384418113 | LRRK2 | c.4261C>A (p.Leu1421Ile) c.*3170C>A (n.*3170C>A) c.4006C>A (p.Leu1336Ile) c.1557C>A n.942C>A c.3058C>A (p.Leu1020Ile) c.1177C>A (p.Leu393Ile) c.523C>A (p.Leu175Ile) n.4503C>A | |
| 12 | g.40309177C>G | CA384418114 | LRRK2 | c.4261C>G (p.Leu1421Val) c.*3170C>G (n.*3170C>G) c.4006C>G (p.Leu1336Val) c.1557C>G n.942C>G c.3058C>G (p.Leu1020Val) c.1177C>G (p.Leu393Val) c.523C>G (p.Leu175Val) n.4503C>G | |
| 12 | g.40309177C>T | CA384418115 | LRRK2 | c.4261C>T (p.Leu1421Phe) c.*3170C>T (n.*3170C>T) c.4006C>T (p.Leu1336Phe) c.1557C>T n.942C>T c.3058C>T (p.Leu1020Phe) c.1177C>T (p.Leu393Phe) c.523C>T (p.Leu175Phe) n.4503C>T | |
| 12 | g.40309178T>A | CA384418116 | LRRK2 | c.4262T>A (p.Leu1421His) c.*3171T>A (n.*3171T>A) c.4007T>A (p.Leu1336His) c.1558T>A n.943T>A c.3059T>A (p.Leu1020His) c.1178T>A (p.Leu393His) c.524T>A (p.Leu175His) n.4504T>A | |
| 12 | g.40309178T>C | CA384418117 | LRRK2 | c.4262T>C (p.Leu1421Pro) c.*3171T>C (n.*3171T>C) c.4007T>C (p.Leu1336Pro) c.1558T>C n.943T>C c.3059T>C (p.Leu1020Pro) c.1178T>C (p.Leu393Pro) c.524T>C (p.Leu175Pro) n.4504T>C | |
| 12 | g.40309178T>G | CA384418118 | LRRK2 | c.4262T>G (p.Leu1421Arg) c.*3171T>G (n.*3171T>G) c.4007T>G (p.Leu1336Arg) c.1558T>G n.943T>G c.3059T>G (p.Leu1020Arg) c.1178T>G (p.Leu393Arg) c.524T>G (p.Leu175Arg) n.4504T>G | |
| 12 | g.40309179C>A | CA479259347 | LRRK2 | c.4263C>A (p.Leu1421=) c.*3172C>A (n.*3172C>A) c.4008C>A (p.Leu1336=) c.1559C>A n.944C>A c.3060C>A (p.Leu1020=) c.1179C>A (p.Leu393=) c.525C>A (p.Leu175=) n.4505C>A | |
| 12 | g.40309179C= | CA2031002888 | LRRK2 | c.4263C= (p.Leu1421=) c.*3172C= (n.*3172C=) c.4008C= (p.Leu1336=) c.1559C= n.944C= c.3060C= (p.Leu1020=) c.1179C= (p.Leu393=) c.525C= (p.Leu175=) n.4505C= | |
| 12 | g.40309179C>G | CA479259349 | LRRK2 | c.4263C>G (p.Leu1421=) c.*3172C>G (n.*3172C>G) c.4008C>G (p.Leu1336=) c.1559C>G n.944C>G c.3060C>G (p.Leu1020=) c.1179C>G (p.Leu393=) c.525C>G (p.Leu175=) n.4505C>G | |
| 12 | g.40309179C>T | CA479259351 | LRRK2 | c.4263C>T (p.Leu1421=) c.*3172C>T (n.*3172C>T) c.4008C>T (p.Leu1336=) c.1559C>T n.944C>T c.3060C>T (p.Leu1020=) c.1179C>T (p.Leu393=) c.525C>T (p.Leu175=) n.4505C>T | dbSNP COSMIC COSMIC |
| 12 | g.40309180A>C | CA384418119 | LRRK2 | c.4264A>C (p.Ser1422Arg) c.*3173A>C (n.*3173A>C) c.4009A>C (p.Ser1337Arg) c.1560A>C n.945A>C c.3061A>C (p.Ser1021Arg) c.1180A>C (p.Ser394Arg) c.526A>C (p.Ser176Arg) n.4506A>C | |
| 12 | g.40309180A>G | CA384418120 | LRRK2 | c.4264A>G (p.Ser1422Gly) c.*3173A>G (n.*3173A>G) c.4009A>G (p.Ser1337Gly) c.1560A>G n.945A>G c.3061A>G (p.Ser1021Gly) c.1180A>G (p.Ser394Gly) c.526A>G (p.Ser176Gly) n.4506A>G | |
| 12 | g.40309180A>T | CA384418121 | LRRK2 | c.4264A>T (p.Ser1422Cys) c.*3173A>T (n.*3173A>T) c.4009A>T (p.Ser1337Cys) c.1560A>T n.945A>T c.3061A>T (p.Ser1021Cys) c.1180A>T (p.Ser394Cys) c.526A>T (p.Ser176Cys) n.4506A>T | |
| 12 | g.40309181G>A | CA384418123 | LRRK2 | c.4265G>A (p.Ser1422Asn) c.*3174G>A (n.*3174G>A) c.4010G>A (p.Ser1337Asn) c.1561G>A n.946G>A c.3062G>A (p.Ser1021Asn) c.1181G>A (p.Ser394Asn) c.527G>A (p.Ser176Asn) n.4507G>A | |
| 12 | g.40309181G>C | CA384418124 | LRRK2 | c.4265G>C (p.Ser1422Thr) c.*3174G>C (n.*3174G>C) c.4010G>C (p.Ser1337Thr) c.1561G>C n.946G>C c.3062G>C (p.Ser1021Thr) c.1181G>C (p.Ser394Thr) c.527G>C (p.Ser176Thr) n.4507G>C | |
| 12 | g.40309181G>T | CA384418122 | LRRK2 | c.4265G>T (p.Ser1422Ile) c.*3174G>T (n.*3174G>T) c.4010G>T (p.Ser1337Ile) c.1561G>T n.946G>T c.3062G>T (p.Ser1021Ile) c.1181G>T (p.Ser394Ile) c.527G>T (p.Ser176Ile) n.4507G>T | |
| 12 | g.40309182C>A | CA384418125 | LRRK2 | c.4266C>A (p.Ser1422Arg) c.*3175C>A (n.*3175C>A) c.4011C>A (p.Ser1337Arg) c.1562C>A n.947C>A c.3063C>A (p.Ser1021Arg) c.1182C>A (p.Ser394Arg) c.528C>A (p.Ser176Arg) n.4508C>A | |
| 12 | g.40309182C>G | CA384418126 | LRRK2 | c.4266C>G (p.Ser1422Arg) c.*3175C>G (n.*3175C>G) c.4011C>G (p.Ser1337Arg) c.1562C>G n.947C>G c.3063C>G (p.Ser1021Arg) c.1182C>G (p.Ser394Arg) c.528C>G (p.Ser176Arg) n.4508C>G | |
| 12 | g.40309182C>T | CA479259368 | LRRK2 | c.4266C>T (p.Ser1422=) c.*3175C>T (n.*3175C>T) c.4011C>T (p.Ser1337=) c.1562C>T n.947C>T c.3063C>T (p.Ser1021=) c.1182C>T (p.Ser394=) c.528C>T (p.Ser176=) n.4508C>T | |
| 12 | g.40309183A= | CA2031002892 | LRRK2 | c.4267A= (p.Lys1423=) c.*3176A= (n.*3176A=) c.4012A= (p.Lys1338=) c.1563A= n.948A= c.3064A= (p.Lys1022=) c.1183A= (p.Lys395=) c.529A= (p.Lys177=) n.4509A= | |
| 12 | g.40309183A>C | CA384418127 | LRRK2 | c.4267A>C (p.Lys1423Gln) c.*3176A>C (n.*3176A>C) c.4012A>C (p.Lys1338Gln) c.1563A>C n.948A>C c.3064A>C (p.Lys1022Gln) c.1183A>C (p.Lys395Gln) c.529A>C (p.Lys177Gln) n.4509A>C | |
| 12 | g.40309183A>G | CA384418128 | LRRK2 | c.4267A>G (p.Lys1423Glu) c.*3176A>G (n.*3176A>G) c.4012A>G (p.Lys1338Glu) c.1563A>G n.948A>G c.3064A>G (p.Lys1022Glu) c.1183A>G (p.Lys395Glu) c.529A>G (p.Lys177Glu) n.4509A>G | dbSNP |
| 12 | g.40309183A>T | CA384418129 | LRRK2 | c.4267A>T (p.Lys1423Ter) c.*3176A>T (n.*3176A>T) c.4012A>T (p.Lys1338Ter) c.1563A>T n.948A>T c.3064A>T (p.Lys1022Ter) c.1183A>T (p.Lys395Ter) c.529A>T (p.Lys177Ter) n.4509A>T | |
| 12 | g.40309184dup | CA2618283347 | LRRK2 | c.4268dup (p.Gln1425ThrfsTer3) c.*3177dup (n.*3177dup) c.4013dup (p.Gln1340ThrfsTer3) c.1564dup n.949dup c.3065dup (p.Gln1024ThrfsTer3) c.1184dup (p.Gln397ThrfsTer3) c.530dup (p.Gln179ThrfsTer3) n.4510dup | gnomAD v4 |
| 12 | g.40309184A>C | CA384418132 | LRRK2 | c.4268A>C (p.Lys1423Thr) c.*3177A>C (n.*3177A>C) c.4013A>C (p.Lys1338Thr) c.1564A>C n.949A>C c.3065A>C (p.Lys1022Thr) c.1184A>C (p.Lys395Thr) c.530A>C (p.Lys177Thr) n.4510A>C | |
| 12 | g.40309184A>G | CA384418130 | LRRK2 | c.4268A>G (p.Lys1423Arg) c.*3177A>G (n.*3177A>G) c.4013A>G (p.Lys1338Arg) c.1564A>G n.949A>G c.3065A>G (p.Lys1022Arg) c.1184A>G (p.Lys395Arg) c.530A>G (p.Lys177Arg) n.4510A>G | |
| 12 | g.40309184A>T | CA384418131 | LRRK2 | c.4268A>T (p.Lys1423Met) c.*3177A>T (n.*3177A>T) c.4013A>T (p.Lys1338Met) c.1564A>T n.949A>T c.3065A>T (p.Lys1022Met) c.1184A>T (p.Lys395Met) c.530A>T (p.Lys177Met) n.4510A>T | |
| 12 | g.40309185G>A | CA343573 | LRRK2 | c.4269G>A (p.Lys1423=) c.*3178G>A (n.*3178G>A) c.4014G>A (p.Lys1338=) c.1565G>A n.950G>A c.3066G>A (p.Lys1022=) c.1185G>A (p.Lys395=) c.531G>A (p.Lys177=) n.4511G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40309185G>C | CA384418133 | LRRK2 | c.4269G>C (p.Lys1423Asn) c.*3178G>C (n.*3178G>C) c.4014G>C (p.Lys1338Asn) c.1565G>C n.950G>C c.3066G>C (p.Lys1022Asn) c.1185G>C (p.Lys395Asn) c.531G>C (p.Lys177Asn) n.4511G>C | dbSNP |
| 12 | g.40309185G= | CA2031002902 | LRRK2 | c.4269G= (p.Lys1423=) c.*3178G= (n.*3178G=) c.4014G= (p.Lys1338=) c.1565G= n.950G= c.3066G= (p.Lys1022=) c.1185G= (p.Lys395=) c.531G= (p.Lys177=) n.4511G= | |
| 12 | g.40309185G>T | CA384418134 | LRRK2 | c.4269G>T (p.Lys1423Asn) c.*3178G>T (n.*3178G>T) c.4014G>T (p.Lys1338Asn) c.1565G>T n.950G>T c.3066G>T (p.Lys1022Asn) c.1185G>T (p.Lys395Asn) c.531G>T (p.Lys177Asn) n.4511G>T | |
| 12 | g.40309186G>A | CA235357347 | LRRK2 | c.4270G>A (p.Gly1424Arg) c.*3179G>A (n.*3179G>A) c.4015G>A (p.Gly1339Arg) c.1566G>A n.951G>A c.3067G>A (p.Gly1023Arg) c.1186G>A (p.Gly396Arg) c.532G>A (p.Gly178Arg) n.4512G>A | dbSNP |
| 12 | g.40309186G>C | CA384418135 | LRRK2 | c.4270G>C (p.Gly1424Arg) c.*3179G>C (n.*3179G>C) c.4015G>C (p.Gly1339Arg) c.1566G>C n.951G>C c.3067G>C (p.Gly1023Arg) c.1186G>C (p.Gly396Arg) c.532G>C (p.Gly178Arg) n.4512G>C | |
| 12 | g.40309186G= | CA2031002909 | LRRK2 | c.4270G= (p.Gly1424=) c.*3179G= (n.*3179G=) c.4015G= (p.Gly1339=) c.1566G= n.951G= c.3067G= (p.Gly1023=) c.1186G= (p.Gly396=) c.532G= (p.Gly178=) n.4512G= | |
| 12 | g.40309186G>T | CA384418136 | LRRK2 | c.4270G>T (p.Gly1424Ter) c.*3179G>T (n.*3179G>T) c.4015G>T (p.Gly1339Ter) c.1566G>T n.951G>T c.3067G>T (p.Gly1023Ter) c.1186G>T (p.Gly396Ter) c.532G>T (p.Gly178Ter) n.4512G>T | |
| 12 | g.40309187G>A | CA384418138 | LRRK2 | c.4271G>A (p.Gly1424Glu) c.*3180G>A (n.*3180G>A) c.4016G>A (p.Gly1339Glu) c.1567G>A n.952G>A c.3068G>A (p.Gly1023Glu) c.1187G>A (p.Gly396Glu) c.533G>A (p.Gly178Glu) n.4513G>A | ClinVar |
| 12 | g.40309187G>C | CA384418139 | LRRK2 | c.4271G>C (p.Gly1424Ala) c.*3180G>C (n.*3180G>C) c.4016G>C (p.Gly1339Ala) c.1567G>C n.952G>C c.3068G>C (p.Gly1023Ala) c.1187G>C (p.Gly396Ala) c.533G>C (p.Gly178Ala) n.4513G>C | gnomAD v4 COSMIC COSMIC |
| 12 | g.40309187G>T | CA384418137 | LRRK2 | c.4271G>T (p.Gly1424Val) c.*3180G>T (n.*3180G>T) c.4016G>T (p.Gly1339Val) c.1567G>T n.952G>T c.3068G>T (p.Gly1023Val) c.1187G>T (p.Gly396Val) c.533G>T (p.Gly178Val) n.4513G>T | ClinVar |
| 12 | g.40309188A>C | CA479259397 | LRRK2 | c.4272A>C (p.Gly1424=) c.*3181A>C (n.*3181A>C) c.4017A>C (p.Gly1339=) c.1568A>C n.953A>C c.3069A>C (p.Gly1023=) c.1188A>C (p.Gly396=) c.534A>C (p.Gly178=) n.4514A>C | |
| 12 | g.40309188A>G | CA479259399 | LRRK2 | c.4272A>G (p.Gly1424=) c.*3181A>G (n.*3181A>G) c.4017A>G (p.Gly1339=) c.1568A>G n.953A>G c.3069A>G (p.Gly1023=) c.1188A>G (p.Gly396=) c.534A>G (p.Gly178=) n.4514A>G | gnomAD v4 |
| 12 | g.40309188A>T | CA479259402 | LRRK2 | c.4272A>T (p.Gly1424=) c.*3181A>T (n.*3181A>T) c.4017A>T (p.Gly1339=) c.1568A>T n.953A>T c.3069A>T (p.Gly1023=) c.1188A>T (p.Gly396=) c.534A>T (p.Gly178=) n.4514A>T | gnomAD v4 |
| 12 | g.40309189C>A | CA384418142 | LRRK2 | c.4273C>A (p.Gln1425Lys) c.*3182C>A (n.*3182C>A) c.4018C>A (p.Gln1340Lys) c.1569C>A n.954C>A c.3070C>A (p.Gln1024Lys) c.1189C>A (p.Gln397Lys) c.535C>A (p.Gln179Lys) n.4515C>A | |
| 12 | g.40309189C>G | CA384418140 | LRRK2 | c.4273C>G (p.Gln1425Glu) c.*3182C>G (n.*3182C>G) c.4018C>G (p.Gln1340Glu) c.1569C>G n.954C>G c.3070C>G (p.Gln1024Glu) c.1189C>G (p.Gln397Glu) c.535C>G (p.Gln179Glu) n.4515C>G | |
| 12 | g.40309189C>T | CA384418141 | LRRK2 | c.4273C>T (p.Gln1425Ter) c.*3182C>T (n.*3182C>T) c.4018C>T (p.Gln1340Ter) c.1569C>T n.954C>T c.3070C>T (p.Gln1024Ter) c.1189C>T (p.Gln397Ter) c.535C>T (p.Gln179Ter) n.4515C>T | |
| 12 | g.40309190A>C | CA384418143 | LRRK2 | c.4274A>C (p.Gln1425Pro) c.*3183A>C (n.*3183A>C) c.4019A>C (p.Gln1340Pro) c.1570A>C n.955A>C c.3071A>C (p.Gln1024Pro) c.1190A>C (p.Gln397Pro) c.536A>C (p.Gln179Pro) n.4516A>C | gnomAD v4 |
| 12 | g.40309190A>G | CA384418144 | LRRK2 | c.4274A>G (p.Gln1425Arg) c.*3183A>G (n.*3183A>G) c.4019A>G (p.Gln1340Arg) c.1570A>G n.955A>G c.3071A>G (p.Gln1024Arg) c.1190A>G (p.Gln397Arg) c.536A>G (p.Gln179Arg) n.4516A>G | ClinVar gnomAD v4 |
| 12 | g.40309190A>T | CA384418145 | LRRK2 | c.4274A>T (p.Gln1425Leu) c.*3183A>T (n.*3183A>T) c.4019A>T (p.Gln1340Leu) c.1570A>T n.955A>T c.3071A>T (p.Gln1024Leu) c.1190A>T (p.Gln397Leu) c.536A>T (p.Gln179Leu) n.4516A>T | |
| 12 | g.40309191G>A | CA479259412 | LRRK2 | c.4275G>A (p.Gln1425=) c.*3184G>A (n.*3184G>A) c.4020G>A (p.Gln1340=) c.1571G>A n.956G>A c.3072G>A (p.Gln1024=) c.1191G>A (p.Gln397=) c.537G>A (p.Gln179=) n.4517G>A | |
| 12 | g.40309191G>C | CA384418146 | LRRK2 | c.4275G>C (p.Gln1425His) c.*3184G>C (n.*3184G>C) c.4020G>C (p.Gln1340His) c.1571G>C n.956G>C c.3072G>C (p.Gln1024His) c.1191G>C (p.Gln397His) c.537G>C (p.Gln179His) n.4517G>C | |
| 12 | g.40309191G>T | CA384418147 | LRRK2 | c.4275G>T (p.Gln1425His) c.*3184G>T (n.*3184G>T) c.4020G>T (p.Gln1340His) c.1571G>T n.956G>T c.3072G>T (p.Gln1024His) c.1191G>T (p.Gln397His) c.537G>T (p.Gln179His) n.4517G>T | ClinVar gnomAD v4 |
| 12 | g.40309192G>A | CA384418148 | LRRK2 | c.4276G>A (p.Ala1426Thr) c.*3185G>A (n.*3185G>A) c.4021G>A (p.Ala1341Thr) c.1572G>A n.957G>A c.3073G>A (p.Ala1025Thr) c.1192G>A (p.Ala398Thr) c.538G>A (p.Ala180Thr) n.4518G>A | |
| 12 | g.40309192G>C | CA384418149 | LRRK2 | c.4276G>C (p.Ala1426Pro) c.*3185G>C (n.*3185G>C) c.4021G>C (p.Ala1341Pro) c.1572G>C n.957G>C c.3073G>C (p.Ala1025Pro) c.1192G>C (p.Ala398Pro) c.538G>C (p.Ala180Pro) n.4518G>C | |
| 12 | g.40309192G>T | CA384418150 | LRRK2 | c.4276G>T (p.Ala1426Ser) c.*3185G>T (n.*3185G>T) c.4021G>T (p.Ala1341Ser) c.1572G>T n.957G>T c.3073G>T (p.Ala1025Ser) c.1192G>T (p.Ala398Ser) c.538G>T (p.Ala180Ser) n.4518G>T | |
| 12 | g.40309193C>A | CA384418151 | LRRK2 | c.4277C>A (p.Ala1426Asp) c.*3186C>A (n.*3186C>A) c.4022C>A (p.Ala1341Asp) c.1573C>A n.958C>A c.3074C>A (p.Ala1025Asp) c.1193C>A (p.Ala398Asp) c.539C>A (p.Ala180Asp) n.4519C>A | |
| 12 | g.40309193C= | CA2031002916 | LRRK2 | c.4277C= (p.Ala1426=) c.*3186C= (n.*3186C=) c.4022C= (p.Ala1341=) c.1573C= n.958C= c.3074C= (p.Ala1025=) c.1193C= (p.Ala398=) c.539C= (p.Ala180=) n.4519C= | |
| 12 | g.40309193C>G | CA384418152 | LRRK2 | c.4277C>G (p.Ala1426Gly) c.*3186C>G (n.*3186C>G) c.4022C>G (p.Ala1341Gly) c.1573C>G n.958C>G c.3074C>G (p.Ala1025Gly) c.1193C>G (p.Ala398Gly) c.539C>G (p.Ala180Gly) n.4519C>G | |
| 12 | g.40309193C>T | CA384418153 | LRRK2 | c.4277C>T (p.Ala1426Val) c.*3186C>T (n.*3186C>T) c.4022C>T (p.Ala1341Val) c.1573C>T n.958C>T c.3074C>T (p.Ala1025Val) c.1193C>T (p.Ala398Val) c.539C>T (p.Ala180Val) n.4519C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.40309194T>A | CA479259429 | LRRK2 | c.4278T>A (p.Ala1426=) c.*3187T>A (n.*3187T>A) c.4023T>A (p.Ala1341=) c.1574T>A n.959T>A c.3075T>A (p.Ala1025=) c.1194T>A (p.Ala398=) c.540T>A (p.Ala180=) n.4520T>A | |
| 12 | g.40309194T>C | CA479259430 | LRRK2 | c.4278T>C (p.Ala1426=) c.*3187T>C (n.*3187T>C) c.4023T>C (p.Ala1341=) c.1574T>C n.959T>C c.3075T>C (p.Ala1025=) c.1194T>C (p.Ala398=) c.540T>C (p.Ala180=) n.4520T>C | |
| 12 | g.40309194T>G | CA479259431 | LRRK2 | c.4278T>G (p.Ala1426=) c.*3187T>G (n.*3187T>G) c.4023T>G (p.Ala1341=) c.1574T>G n.959T>G c.3075T>G (p.Ala1025=) c.1194T>G (p.Ala398=) c.540T>G (p.Ala180=) n.4520T>G | |
| 12 | g.40309195G>A | CA384418156 | LRRK2 | c.4279G>A (p.Glu1427Lys) c.*3188G>A (n.*3188G>A) c.4024G>A (p.Glu1342Lys) c.1575G>A n.960G>A c.3076G>A (p.Glu1026Lys) c.1195G>A (p.Glu399Lys) c.541G>A (p.Glu181Lys) n.4521G>A | |
| 12 | g.40309195G>C | CA384418154 | LRRK2 | c.4279G>C (p.Glu1427Gln) c.*3188G>C (n.*3188G>C) c.4024G>C (p.Glu1342Gln) c.1575G>C n.960G>C c.3076G>C (p.Glu1026Gln) c.1195G>C (p.Glu399Gln) c.541G>C (p.Glu181Gln) n.4521G>C | |
| 12 | g.40309195G>T | CA384418155 | LRRK2 | c.4279G>T (p.Glu1427Ter) c.*3188G>T (n.*3188G>T) c.4024G>T (p.Glu1342Ter) c.1575G>T n.960G>T c.3076G>T (p.Glu1026Ter) c.1195G>T (p.Glu399Ter) c.541G>T (p.Glu181Ter) n.4521G>T | |
| 12 | g.40309196A= | CA2031002925 | LRRK2 | c.4280A= (p.Glu1427=) c.*3189A= (n.*3189A=) c.4025A= (p.Glu1342=) c.1576A= n.961A= c.3077A= (p.Glu1026=) c.1196A= (p.Glu399=) c.542A= (p.Glu181=) n.4522A= | |
| 12 | g.40309196A>C | CA384418157 | LRRK2 | c.4280A>C (p.Glu1427Ala) c.*3189A>C (n.*3189A>C) c.4025A>C (p.Glu1342Ala) c.1576A>C n.961A>C c.3077A>C (p.Glu1026Ala) c.1196A>C (p.Glu399Ala) c.542A>C (p.Glu181Ala) n.4522A>C | dbSNP |
| 12 | g.40309196A>G | CA384418158 | LRRK2 | c.4280A>G (p.Glu1427Gly) c.*3189A>G (n.*3189A>G) c.4025A>G (p.Glu1342Gly) c.1576A>G n.961A>G c.3077A>G (p.Glu1026Gly) c.1196A>G (p.Glu399Gly) c.542A>G (p.Glu181Gly) n.4522A>G | |
| 12 | g.40309196A>T | CA384418159 | LRRK2 | c.4280A>T (p.Glu1427Val) c.*3189A>T (n.*3189A>T) c.4025A>T (p.Glu1342Val) c.1576A>T n.961A>T c.3077A>T (p.Glu1026Val) c.1196A>T (p.Glu399Val) c.542A>T (p.Glu181Val) n.4522A>T | |
| 12 | g.40309197A= | CA2031002927 | LRRK2 | c.4281A= (p.Glu1427=) c.*3190A= (n.*3190A=) c.4026A= (p.Glu1342=) c.1577A= n.962A= c.3078A= (p.Glu1026=) c.1197A= (p.Glu399=) c.543A= (p.Glu181=) n.4523A= | |
| 12 | g.40309197A>C | CA384418160 | LRRK2 | c.4281A>C (p.Glu1427Asp) c.*3190A>C (n.*3190A>C) c.4026A>C (p.Glu1342Asp) c.1577A>C n.962A>C c.3078A>C (p.Glu1026Asp) c.1197A>C (p.Glu399Asp) c.543A>C (p.Glu181Asp) n.4523A>C | |
| 12 | g.40309197A>G | CA479259443 | LRRK2 | c.4281A>G (p.Glu1427=) c.*3190A>G (n.*3190A>G) c.4026A>G (p.Glu1342=) c.1577A>G n.962A>G c.3078A>G (p.Glu1026=) c.1197A>G (p.Glu399=) c.543A>G (p.Glu181=) n.4523A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.40309197A>T | CA384418161 | LRRK2 | c.4281A>T (p.Glu1427Asp) c.*3190A>T (n.*3190A>T) c.4026A>T (p.Glu1342Asp) c.1577A>T n.962A>T c.3078A>T (p.Glu1026Asp) c.1197A>T (p.Glu399Asp) c.543A>T (p.Glu181Asp) n.4523A>T | |
| 12 | g.40309198G>A | CA384418162 | LRRK2 | c.4282G>A (p.Val1428Ile) c.*3191G>A (n.*3191G>A) c.4027G>A (p.Val1343Ile) c.1578G>A n.963G>A c.3079G>A (p.Val1027Ile) c.1198G>A (p.Val400Ile) c.544G>A (p.Val182Ile) n.4524G>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.40309198G>C | CA384418163 | LRRK2 | c.4282G>C (p.Val1428Leu) c.*3191G>C (n.*3191G>C) c.4027G>C (p.Val1343Leu) c.1578G>C n.963G>C c.3079G>C (p.Val1027Leu) c.1198G>C (p.Val400Leu) c.544G>C (p.Val182Leu) n.4524G>C | ClinVar |
| 12 | g.40309198G= | CA2031002929 | LRRK2 | c.4282G= (p.Val1428=) c.*3191G= (n.*3191G=) c.4027G= (p.Val1343=) c.1578G= n.963G= c.3079G= (p.Val1027=) c.1198G= (p.Val400=) c.544G= (p.Val182=) n.4524G= | |
| 12 | g.40309198G>T | CA384418164 | LRRK2 | c.4282G>T (p.Val1428Phe) c.*3191G>T (n.*3191G>T) c.4027G>T (p.Val1343Phe) c.1578G>T n.963G>T c.3079G>T (p.Val1027Phe) c.1198G>T (p.Val400Phe) c.544G>T (p.Val182Phe) n.4524G>T | |
| 12 | g.40309199T>A | CA384418165 | LRRK2 | c.4283T>A (p.Val1428Asp) c.*3192T>A (n.*3192T>A) c.4028T>A (p.Val1343Asp) c.1579T>A n.964T>A c.3080T>A (p.Val1027Asp) c.1199T>A (p.Val400Asp) c.545T>A (p.Val182Asp) n.4525T>A | |
| 12 | g.40309199T>C | CA384418166 | LRRK2 | c.4283T>C (p.Val1428Ala) c.*3192T>C (n.*3192T>C) c.4028T>C (p.Val1343Ala) c.1579T>C n.964T>C c.3080T>C (p.Val1027Ala) c.1199T>C (p.Val400Ala) c.545T>C (p.Val182Ala) n.4525T>C | dbSNP gnomAD v4 |
| 12 | g.40309199T>G | CA384418167 | LRRK2 | c.4283T>G (p.Val1428Gly) c.*3192T>G (n.*3192T>G) c.4028T>G (p.Val1343Gly) c.1579T>G n.964T>G c.3080T>G (p.Val1027Gly) c.1199T>G (p.Val400Gly) c.545T>G (p.Val182Gly) n.4525T>G | |
| 12 | g.40309199T= | CA2031002942 | LRRK2 | c.4283T= (p.Val1428=) c.*3192T= (n.*3192T=) c.4028T= (p.Val1343=) c.1579T= n.964T= c.3080T= (p.Val1027=) c.1199T= (p.Val400=) c.545T= (p.Val182=) n.4525T= | |
| 12 | g.40309200T>A | CA235357351 | LRRK2 | c.4284T>A (p.Val1428=) c.*3193T>A (n.*3193T>A) c.4029T>A (p.Val1343=) c.1580T>A n.965T>A c.3081T>A (p.Val1027=) c.1200T>A (p.Val400=) c.546T>A (p.Val182=) n.4526T>A | dbSNP |
| 12 | g.40309200T>C | CA479259455 | LRRK2 | c.4284T>C (p.Val1428=) c.*3193T>C (n.*3193T>C) c.4029T>C (p.Val1343=) c.1580T>C n.965T>C c.3081T>C (p.Val1027=) c.1200T>C (p.Val400=) c.546T>C (p.Val182=) n.4526T>C | |
| 12 | g.40309200T>G | CA479259457 | LRRK2 | c.4284T>G (p.Val1428=) c.*3193T>G (n.*3193T>G) c.4029T>G (p.Val1343=) c.1580T>G n.965T>G c.3081T>G (p.Val1027=) c.1200T>G (p.Val400=) c.546T>G (p.Val182=) n.4526T>G | |
| 12 | g.40309200T= | CA2031002944 | LRRK2 | c.4284T= (p.Val1428=) c.*3193T= (n.*3193T=) c.4029T= (p.Val1343=) c.1580T= n.965T= c.3081T= (p.Val1027=) c.1200T= (p.Val400=) c.546T= (p.Val182=) n.4526T= | |
| 12 | g.40309201G>A | CA384418170 | LRRK2 | c.4285G>A (p.Asp1429Asn) c.*3194G>A (n.*3194G>A) c.4030G>A (p.Asp1344Asn) c.1581G>A n.966G>A c.3082G>A (p.Asp1028Asn) c.1201G>A (p.Asp401Asn) c.547G>A (p.Asp183Asn) n.4527G>A | |
| 12 | g.40309201G>C | CA384418169 | LRRK2 | c.4285G>C (p.Asp1429His) c.*3194G>C (n.*3194G>C) c.4030G>C (p.Asp1344His) c.1581G>C n.966G>C c.3082G>C (p.Asp1028His) c.1201G>C (p.Asp401His) c.547G>C (p.Asp183His) n.4527G>C | |
| 12 | g.40309201G>T | CA384418168 | LRRK2 | c.4285G>T (p.Asp1429Tyr) c.*3194G>T (n.*3194G>T) c.4030G>T (p.Asp1344Tyr) c.1581G>T n.966G>T c.3082G>T (p.Asp1028Tyr) c.1201G>T (p.Asp401Tyr) c.547G>T (p.Asp183Tyr) n.4527G>T | |
| 12 | g.40309202A>C | CA384418171 | LRRK2 | c.4286A>C (p.Asp1429Ala) c.*3195A>C (n.*3195A>C) c.4031A>C (p.Asp1344Ala) c.1582A>C n.967A>C c.3083A>C (p.Asp1028Ala) c.1202A>C (p.Asp401Ala) c.548A>C (p.Asp183Ala) n.4528A>C | |
| 12 | g.40309202A>G | CA384418172 | LRRK2 | c.4286A>G (p.Asp1429Gly) c.*3195A>G (n.*3195A>G) c.4031A>G (p.Asp1344Gly) c.1582A>G n.967A>G c.3083A>G (p.Asp1028Gly) c.1202A>G (p.Asp401Gly) c.548A>G (p.Asp183Gly) n.4528A>G | gnomAD v4 |
| 12 | g.40309202A>T | CA384418173 | LRRK2 | c.4286A>T (p.Asp1429Val) c.*3195A>T (n.*3195A>T) c.4031A>T (p.Asp1344Val) c.1582A>T n.967A>T c.3083A>T (p.Asp1028Val) c.1202A>T (p.Asp401Val) c.548A>T (p.Asp183Val) n.4528A>T | |
| 12 | g.40309203T>A | CA384418174 | LRRK2 | c.4287T>A (p.Asp1429Glu) c.*3196T>A (n.*3196T>A) c.4032T>A (p.Asp1344Glu) c.1583T>A n.968T>A c.3084T>A (p.Asp1028Glu) c.1203T>A (p.Asp401Glu) c.549T>A (p.Asp183Glu) n.4529T>A | |
| 12 | g.40309203T>C | CA479259471 | LRRK2 | c.4287T>C (p.Asp1429=) c.*3196T>C (n.*3196T>C) c.4032T>C (p.Asp1344=) c.1583T>C n.968T>C c.3084T>C (p.Asp1028=) c.1203T>C (p.Asp401=) c.549T>C (p.Asp183=) n.4529T>C | ClinVar gnomAD v4 |
| 12 | g.40309203T>G | CA384418175 | LRRK2 | c.4287T>G (p.Asp1429Glu) c.*3196T>G (n.*3196T>G) c.4032T>G (p.Asp1344Glu) c.1583T>G n.968T>G c.3084T>G (p.Asp1028Glu) c.1203T>G (p.Asp401Glu) c.549T>G (p.Asp183Glu) n.4529T>G | gnomAD v4 |
| 12 | g.40309204G>A | CA384418176 | LRRK2 | c.4288G>A (p.Ala1430Thr) c.*3197G>A (n.*3197G>A) c.4033G>A (p.Ala1345Thr) c.1584G>A n.969G>A c.3085G>A (p.Ala1029Thr) c.1204G>A (p.Ala402Thr) c.550G>A (p.Ala184Thr) n.4530G>A | gnomAD v4 |
| 12 | g.40309204G>C | CA384418177 | LRRK2 | c.4288G>C (p.Ala1430Pro) c.*3197G>C (n.*3197G>C) c.4033G>C (p.Ala1345Pro) c.1584G>C n.969G>C c.3085G>C (p.Ala1029Pro) c.1204G>C (p.Ala402Pro) c.550G>C (p.Ala184Pro) n.4530G>C | |
| 12 | g.40309204G>T | CA384418178 | LRRK2 | c.4288G>T (p.Ala1430Ser) c.*3197G>T (n.*3197G>T) c.4033G>T (p.Ala1345Ser) c.1584G>T n.969G>T c.3085G>T (p.Ala1029Ser) c.1204G>T (p.Ala402Ser) c.550G>T (p.Ala184Ser) n.4530G>T | |
| 12 | g.40309205C>A | CA384418179 | LRRK2 | c.4289C>A (p.Ala1430Asp) c.*3198C>A (n.*3198C>A) c.4034C>A (p.Ala1345Asp) c.1585C>A n.970C>A c.3086C>A (p.Ala1029Asp) c.1205C>A (p.Ala402Asp) c.551C>A (p.Ala184Asp) n.4531C>A | |
| 12 | g.40309205C= | CA2031002947 | LRRK2 | c.4289C= (p.Ala1430=) c.*3198C= (n.*3198C=) c.4034C= (p.Ala1345=) c.1585C= n.970C= c.3086C= (p.Ala1029=) c.1205C= (p.Ala402=) c.551C= (p.Ala184=) n.4531C= | |
| 12 | g.40309205C>G | CA384418180 | LRRK2 | c.4289C>G (p.Ala1430Gly) c.*3198C>G (n.*3198C>G) c.4034C>G (p.Ala1345Gly) c.1585C>G n.970C>G c.3086C>G (p.Ala1029Gly) c.1205C>G (p.Ala402Gly) c.551C>G (p.Ala184Gly) n.4531C>G | |
| 12 | g.40309205C>T | CA384418181 | LRRK2 | c.4289C>T (p.Ala1430Val) c.*3198C>T (n.*3198C>T) c.4034C>T (p.Ala1345Val) c.1585C>T n.970C>T c.3086C>T (p.Ala1029Val) c.1205C>T (p.Ala402Val) c.551C>T (p.Ala184Val) n.4531C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.40309206C>A | CA479259488 | LRRK2 | c.4290C>A (p.Ala1430=) c.*3199C>A (n.*3199C>A) c.4035C>A (p.Ala1345=) c.1586C>A n.971C>A c.3087C>A (p.Ala1029=) c.1206C>A (p.Ala402=) c.552C>A (p.Ala184=) n.4532C>A | |
| 12 | g.40309206C= | CA2031002950 | LRRK2 | c.4290C= (p.Ala1430=) c.*3199C= (n.*3199C=) c.4035C= (p.Ala1345=) c.1586C= n.971C= c.3087C= (p.Ala1029=) c.1206C= (p.Ala402=) c.552C= (p.Ala184=) n.4532C= | |
| 12 | g.40309206C>G | CA479259490 | LRRK2 | c.4290C>G (p.Ala1430=) c.*3199C>G (n.*3199C>G) c.4035C>G (p.Ala1345=) c.1586C>G n.971C>G c.3087C>G (p.Ala1029=) c.1206C>G (p.Ala402=) c.552C>G (p.Ala184=) n.4532C>G | |
| 12 | g.40309206C>T | CA343575 | LRRK2 | c.4290C>T (p.Ala1430=) c.*3199C>T (n.*3199C>T) c.4035C>T (p.Ala1345=) c.1586C>T n.971C>T c.3087C>T (p.Ala1029=) c.1206C>T (p.Ala402=) c.552C>T (p.Ala184=) n.4532C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40309207A= | CA2031002954 | LRRK2 | c.4291A= (p.Met1431=) c.*3200A= (n.*3200A=) c.4036A= (p.Met1346=) c.1587A= n.972A= c.3088A= (p.Met1030=) c.1207A= (p.Met403=) c.553A= (p.Met185=) n.4533A= | |
| 12 | g.40309207A>C | CA384418183 | LRRK2 | c.4291A>C (p.Met1431Leu) c.*3200A>C (n.*3200A>C) c.4036A>C (p.Met1346Leu) c.1587A>C n.972A>C c.3088A>C (p.Met1030Leu) c.1207A>C (p.Met403Leu) c.553A>C (p.Met185Leu) n.4533A>C | |
| 12 | g.40309207A>G | CA384418184 | LRRK2 | c.4291A>G (p.Met1431Val) c.*3200A>G (n.*3200A>G) c.4036A>G (p.Met1346Val) c.1587A>G n.972A>G c.3088A>G (p.Met1030Val) c.1207A>G (p.Met403Val) c.553A>G (p.Met185Val) n.4533A>G | gnomAD v4 COSMIC |
| 12 | g.40309207A>T | CA384418182 | LRRK2 | c.4291A>T (p.Met1431Leu) c.*3200A>T (n.*3200A>T) c.4036A>T (p.Met1346Leu) c.1587A>T n.972A>T c.3088A>T (p.Met1030Leu) c.1207A>T (p.Met403Leu) c.553A>T (p.Met185Leu) n.4533A>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.40309208T>A | CA384418185 | LRRK2 | c.4292T>A (p.Met1431Lys) c.*3201T>A (n.*3201T>A) c.4037T>A (p.Met1346Lys) c.1588T>A n.973T>A c.3089T>A (p.Met1030Lys) c.1208T>A (p.Met403Lys) c.554T>A (p.Met185Lys) n.4534T>A | |
| 12 | g.40309208T>C | CA384418186 | LRRK2 | c.4292T>C (p.Met1431Thr) c.*3201T>C (n.*3201T>C) c.4037T>C (p.Met1346Thr) c.1588T>C n.973T>C c.3089T>C (p.Met1030Thr) c.1208T>C (p.Met403Thr) c.554T>C (p.Met185Thr) n.4534T>C | ClinVar gnomAD v4 |
| 12 | g.40309208T>G | CA384418187 | LRRK2 | c.4292T>G (p.Met1431Arg) c.*3201T>G (n.*3201T>G) c.4037T>G (p.Met1346Arg) c.1588T>G n.973T>G c.3089T>G (p.Met1030Arg) c.1208T>G (p.Met403Arg) c.554T>G (p.Met185Arg) n.4534T>G | |
| 12 | g.40309209G>A | CA384418188 | LRRK2 | c.4293G>A (p.Met1431Ile) c.*3202G>A (n.*3202G>A) c.4038G>A (p.Met1346Ile) c.1589G>A n.974G>A c.3090G>A (p.Met1030Ile) c.1209G>A (p.Met403Ile) c.555G>A (p.Met185Ile) n.4535G>A | |
| 12 | g.40309209G>C | CA384418189 | LRRK2 | c.4293G>C (p.Met1431Ile) c.*3202G>C (n.*3202G>C) c.4038G>C (p.Met1346Ile) c.1589G>C n.974G>C c.3090G>C (p.Met1030Ile) c.1209G>C (p.Met403Ile) c.555G>C (p.Met185Ile) n.4535G>C | |
| 12 | g.40309209G>T | CA384418190 | LRRK2 | c.4293G>T (p.Met1431Ile) c.*3202G>T (n.*3202G>T) c.4038G>T (p.Met1346Ile) c.1589G>T n.974G>T c.3090G>T (p.Met1030Ile) c.1209G>T (p.Met403Ile) c.555G>T (p.Met185Ile) n.4535G>T | |
| 12 | g.40309210A>C | CA384418191 | LRRK2 | c.4294A>C (p.Lys1432Gln) c.*3203A>C (n.*3203A>C) c.4039A>C (p.Lys1347Gln) c.1590A>C n.975A>C c.3091A>C (p.Lys1031Gln) c.1210A>C (p.Lys404Gln) c.556A>C (p.Lys186Gln) n.4536A>C | |
| 12 | g.40309210A>G | CA384418193 | LRRK2 | c.4294A>G (p.Lys1432Glu) c.*3203A>G (n.*3203A>G) c.4039A>G (p.Lys1347Glu) c.1590A>G n.975A>G c.3091A>G (p.Lys1031Glu) c.1210A>G (p.Lys404Glu) c.556A>G (p.Lys186Glu) n.4536A>G | |
| 12 | g.40309210A>T | CA384418192 | LRRK2 | c.4294A>T (p.Lys1432Ter) c.*3203A>T (n.*3203A>T) c.4039A>T (p.Lys1347Ter) c.1590A>T n.975A>T c.3091A>T (p.Lys1031Ter) c.1210A>T (p.Lys404Ter) c.556A>T (p.Lys186Ter) n.4536A>T | |
| 12 | g.40309211A>C | CA384418194 | LRRK2 | c.4295A>C (p.Lys1432Thr) c.*3204A>C (n.*3204A>C) c.4040A>C (p.Lys1347Thr) c.1591A>C n.976A>C c.3092A>C (p.Lys1031Thr) c.1211A>C (p.Lys404Thr) c.557A>C (p.Lys186Thr) n.4537A>C | |
| 12 | g.40309211A>G | CA384418195 | LRRK2 | c.4295A>G (p.Lys1432Arg) c.*3204A>G (n.*3204A>G) c.4040A>G (p.Lys1347Arg) c.1591A>G n.976A>G c.3092A>G (p.Lys1031Arg) c.1211A>G (p.Lys404Arg) c.557A>G (p.Lys186Arg) n.4537A>G | COSMIC COSMIC |
| 12 | g.40309211A>T | CA384418196 | LRRK2 | c.4295A>T (p.Lys1432Met) c.*3204A>T (n.*3204A>T) c.4040A>T (p.Lys1347Met) c.1591A>T n.976A>T c.3092A>T (p.Lys1031Met) c.1211A>T (p.Lys404Met) c.557A>T (p.Lys186Met) n.4537A>T | |
| 12 | g.40309212G>A | CA479259518 | LRRK2 | c.4296G>A (p.Lys1432=) c.*3205G>A (n.*3205G>A) c.4041G>A (p.Lys1347=) c.1592G>A n.977G>A c.3093G>A (p.Lys1031=) c.1212G>A (p.Lys404=) c.558G>A (p.Lys186=) n.4538G>A | gnomAD v4 |
| 12 | g.40309212G>C | CA384418197 | LRRK2 | c.4296G>C (p.Lys1432Asn) c.*3205G>C (n.*3205G>C) c.4041G>C (p.Lys1347Asn) c.1592G>C n.977G>C c.3093G>C (p.Lys1031Asn) c.1212G>C (p.Lys404Asn) c.558G>C (p.Lys186Asn) n.4538G>C | |
| 12 | g.40309212G>T | CA384418198 | LRRK2 | c.4296G>T (p.Lys1432Asn) c.*3205G>T (n.*3205G>T) c.4041G>T (p.Lys1347Asn) c.1592G>T n.977G>T c.3093G>T (p.Lys1031Asn) c.1212G>T (p.Lys404Asn) c.558G>T (p.Lys186Asn) n.4538G>T | |
| 12 | g.40309213C>A | CA384418200 | LRRK2 | c.4297C>A (p.Pro1433Thr) c.*3206C>A (n.*3206C>A) c.4042C>A (p.Pro1348Thr) c.1593C>A n.978C>A c.3094C>A (p.Pro1032Thr) c.1213C>A (p.Pro405Thr) c.559C>A (p.Pro187Thr) n.4539C>A | |
| 12 | g.40309213C= | CA2031002962 | LRRK2 | c.4297C= (p.Pro1433=) c.*3206C= (n.*3206C=) c.4042C= (p.Pro1348=) c.1593C= n.978C= c.3094C= (p.Pro1032=) c.1213C= (p.Pro405=) c.559C= (p.Pro187=) n.4539C= | |
| 12 | g.40309213C>G | CA384418201 | LRRK2 | c.4297C>G (p.Pro1433Ala) c.*3206C>G (n.*3206C>G) c.4042C>G (p.Pro1348Ala) c.1593C>G n.978C>G c.3094C>G (p.Pro1032Ala) c.1213C>G (p.Pro405Ala) c.559C>G (p.Pro187Ala) n.4539C>G | |
| 12 | g.40309213C>T | CA384418199 | LRRK2 | c.4297C>T (p.Pro1433Ser) c.*3206C>T (n.*3206C>T) c.4042C>T (p.Pro1348Ser) c.1593C>T n.978C>T c.3094C>T (p.Pro1032Ser) c.1213C>T (p.Pro405Ser) c.559C>T (p.Pro187Ser) n.4539C>T | dbSNP gnomAD v4 |
| 12 | g.40309214C>A | CA384418203 | LRRK2 | c.4298C>A (p.Pro1433His) c.*3207C>A (n.*3207C>A) c.4043C>A (p.Pro1348His) c.1594C>A n.979C>A c.3095C>A (p.Pro1032His) c.1214C>A (p.Pro405His) c.560C>A (p.Pro187His) n.4540C>A | COSMIC COSMIC |
| 12 | g.40309214C>G | CA384418202 | LRRK2 | c.4298C>G (p.Pro1433Arg) c.*3207C>G (n.*3207C>G) c.4043C>G (p.Pro1348Arg) c.1594C>G n.979C>G c.3095C>G (p.Pro1032Arg) c.1214C>G (p.Pro405Arg) c.560C>G (p.Pro187Arg) n.4540C>G | |
| 12 | g.40309214C>T | CA384418204 | LRRK2 | c.4298C>T (p.Pro1433Leu) c.*3207C>T (n.*3207C>T) c.4043C>T (p.Pro1348Leu) c.1594C>T n.979C>T c.3095C>T (p.Pro1032Leu) c.1214C>T (p.Pro405Leu) c.560C>T (p.Pro187Leu) n.4540C>T | |
| 12 | g.40309215T>A | CA479259538 | LRRK2 | c.4299T>A (p.Pro1433=) c.*3208T>A (n.*3208T>A) c.4044T>A (p.Pro1348=) c.1595T>A n.980T>A c.3096T>A (p.Pro1032=) c.1215T>A (p.Pro405=) c.561T>A (p.Pro187=) n.4541T>A | |
| 12 | g.40309215T>C | CA479259535 | LRRK2 | c.4299T>C (p.Pro1433=) c.*3208T>C (n.*3208T>C) c.4044T>C (p.Pro1348=) c.1595T>C n.980T>C c.3096T>C (p.Pro1032=) c.1215T>C (p.Pro405=) c.561T>C (p.Pro187=) n.4541T>C | |
| 12 | g.40309215T>G | CA479259532 | LRRK2 | c.4299T>G (p.Pro1433=) c.*3208T>G (n.*3208T>G) c.4044T>G (p.Pro1348=) c.1595T>G n.980T>G c.3096T>G (p.Pro1032=) c.1215T>G (p.Pro405=) c.561T>G (p.Pro187=) n.4541T>G | ClinVar |
| 12 | g.40309216T>A | CA384418205 | LRRK2 | c.4300T>A (p.Trp1434Arg) c.*3209T>A (n.*3209T>A) c.4045T>A (p.Trp1349Arg) c.1596T>A n.981T>A c.3097T>A (p.Trp1033Arg) c.1216T>A (p.Trp406Arg) c.562T>A (p.Trp188Arg) n.4542T>A | |
| 12 | g.40309216T>C | CA384418207 | LRRK2 | c.4300T>C (p.Trp1434Arg) c.*3209T>C (n.*3209T>C) c.4045T>C (p.Trp1349Arg) c.1596T>C n.981T>C c.3097T>C (p.Trp1033Arg) c.1216T>C (p.Trp406Arg) c.562T>C (p.Trp188Arg) n.4542T>C | gnomAD v4 |
| 12 | g.40309216T>G | CA384418206 | LRRK2 | c.4300T>G (p.Trp1434Gly) c.*3209T>G (n.*3209T>G) c.4045T>G (p.Trp1349Gly) c.1596T>G n.981T>G c.3097T>G (p.Trp1033Gly) c.1216T>G (p.Trp406Gly) c.562T>G (p.Trp188Gly) n.4542T>G | |
| 12 | g.40309217G>A | CA6514126 | LRRK2 | c.4301G>A (p.Trp1434Ter) c.*3210G>A (n.*3210G>A) c.4046G>A (p.Trp1349Ter) c.1597G>A n.982G>A c.3098G>A (p.Trp1033Ter) c.1217G>A (p.Trp406Ter) c.563G>A (p.Trp188Ter) n.4543G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.40309217G>C | CA384418208 | LRRK2 | c.4301G>C (p.Trp1434Ser) c.*3210G>C (n.*3210G>C) c.4046G>C (p.Trp1349Ser) c.1597G>C n.982G>C c.3098G>C (p.Trp1033Ser) c.1217G>C (p.Trp406Ser) c.563G>C (p.Trp188Ser) n.4543G>C | gnomAD v4 |
| 12 | g.40309217G= | CA2031002969 | LRRK2 | c.4301G= (p.Trp1434=) c.*3210G= (n.*3210G=) c.4046G= (p.Trp1349=) c.1597G= n.982G= c.3098G= (p.Trp1033=) c.1217G= (p.Trp406=) c.563G= (p.Trp188=) n.4543G= | |
| 12 | g.40309217G>T | CA384418209 | LRRK2 | c.4301G>T (p.Trp1434Leu) c.*3210G>T (n.*3210G>T) c.4046G>T (p.Trp1349Leu) c.1597G>T n.982G>T c.3098G>T (p.Trp1033Leu) c.1217G>T (p.Trp406Leu) c.563G>T (p.Trp188Leu) n.4543G>T | |
| 12 | g.40309218G>A | CA384418210 | LRRK2 | c.4302G>A (p.Trp1434Ter) c.*3211G>A (n.*3211G>A) c.4047G>A (p.Trp1349Ter) c.1598G>A n.983G>A c.3099G>A (p.Trp1033Ter) c.1218G>A (p.Trp406Ter) c.564G>A (p.Trp188Ter) n.4544G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.40309218G>C | CA384418211 | LRRK2 | c.4302G>C (p.Trp1434Cys) c.*3211G>C (n.*3211G>C) c.4047G>C (p.Trp1349Cys) c.1598G>C n.983G>C c.3099G>C (p.Trp1033Cys) c.1218G>C (p.Trp406Cys) c.564G>C (p.Trp188Cys) n.4544G>C | |
| 12 | g.40309218G= | CA2031002973 | LRRK2 | c.4302G= (p.Trp1434=) c.*3211G= (n.*3211G=) c.4047G= (p.Trp1349=) c.1598G= n.983G= c.3099G= (p.Trp1033=) c.1218G= (p.Trp406=) c.564G= (p.Trp188=) n.4544G= | |
| 12 | g.40309218G>T | CA235357362 | LRRK2 | c.4302G>T (p.Trp1434Cys) c.*3211G>T (n.*3211G>T) c.4047G>T (p.Trp1349Cys) c.1598G>T n.983G>T c.3099G>T (p.Trp1033Cys) c.1218G>T (p.Trp406Cys) c.564G>T (p.Trp188Cys) n.4544G>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.40309219C>A | CA384418212 | LRRK2 | c.4303C>A (p.Leu1435Ile) c.*3212C>A (n.*3212C>A) c.4048C>A (p.Leu1350Ile) c.1599C>A n.984C>A c.3100C>A (p.Leu1034Ile) c.1219C>A (p.Leu407Ile) c.565C>A (p.Leu189Ile) n.4545C>A | |
| 12 | g.40309219C>G | CA384418213 | LRRK2 | c.4303C>G (p.Leu1435Val) c.*3212C>G (n.*3212C>G) c.4048C>G (p.Leu1350Val) c.1599C>G n.984C>G c.3100C>G (p.Leu1034Val) c.1219C>G (p.Leu407Val) c.565C>G (p.Leu189Val) n.4545C>G | |
| 12 | g.40309219C>T | CA384418214 | LRRK2 | c.4303C>T (p.Leu1435Phe) c.*3212C>T (n.*3212C>T) c.4048C>T (p.Leu1350Phe) c.1599C>T n.984C>T c.3100C>T (p.Leu1034Phe) c.1219C>T (p.Leu407Phe) c.565C>T (p.Leu189Phe) n.4545C>T | gnomAD v4 |
| 12 | g.40309220T>A | CA384418215 | LRRK2 | c.4304T>A (p.Leu1435His) c.*3213T>A (n.*3213T>A) c.4049T>A (p.Leu1350His) c.1600T>A n.985T>A c.3101T>A (p.Leu1034His) c.1220T>A (p.Leu407His) c.566T>A (p.Leu189His) n.4546T>A | |
| 12 | g.40309220T>C | CA384418216 | LRRK2 | c.4304T>C (p.Leu1435Pro) c.*3213T>C (n.*3213T>C) c.4049T>C (p.Leu1350Pro) c.1600T>C n.985T>C c.3101T>C (p.Leu1034Pro) c.1220T>C (p.Leu407Pro) c.566T>C (p.Leu189Pro) n.4546T>C | |
| 12 | g.40309220T>G | CA384418217 | LRRK2 | c.4304T>G (p.Leu1435Arg) c.*3213T>G (n.*3213T>G) c.4049T>G (p.Leu1350Arg) c.1600T>G n.985T>G c.3101T>G (p.Leu1034Arg) c.1220T>G (p.Leu407Arg) c.566T>G (p.Leu189Arg) n.4546T>G | |
| 12 | g.40309221C>A | CA479259568 | LRRK2 | c.4305C>A (p.Leu1435=) c.*3214C>A (n.*3214C>A) c.4050C>A (p.Leu1350=) c.1601C>A n.986C>A c.3102C>A (p.Leu1034=) c.1221C>A (p.Leu407=) c.567C>A (p.Leu189=) n.4547C>A | ClinVar |
| 12 | g.40309221C>G | CA479259571 | LRRK2 | c.4305C>G (p.Leu1435=) c.*3214C>G (n.*3214C>G) c.4050C>G (p.Leu1350=) c.1601C>G n.986C>G c.3102C>G (p.Leu1034=) c.1221C>G (p.Leu407=) c.567C>G (p.Leu189=) n.4547C>G | |
| 12 | g.40309221C>T | CA479259573 | LRRK2 | c.4305C>T (p.Leu1435=) c.*3214C>T (n.*3214C>T) c.4050C>T (p.Leu1350=) c.1601C>T n.986C>T c.3102C>T (p.Leu1034=) c.1221C>T (p.Leu407=) c.567C>T (p.Leu189=) n.4547C>T | |
| 12 | g.40309222T>A | CA384418219 | LRRK2 | c.4306T>A (p.Phe1436Ile) c.*3215T>A (n.*3215T>A) c.4051T>A (p.Phe1351Ile) c.1602T>A n.987T>A c.3103T>A (p.Phe1035Ile) c.1222T>A (p.Phe408Ile) c.568T>A (p.Phe190Ile) n.4548T>A | |
| 12 | g.40309222T>C | CA235357365 | LRRK2 | c.4306T>C (p.Phe1436Leu) c.*3215T>C (n.*3215T>C) c.4051T>C (p.Phe1351Leu) c.1602T>C n.987T>C c.3103T>C (p.Phe1035Leu) c.1222T>C (p.Phe408Leu) c.568T>C (p.Phe190Leu) n.4548T>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.40309222T>G | CA384418218 | LRRK2 | c.4306T>G (p.Phe1436Val) c.*3215T>G (n.*3215T>G) c.4051T>G (p.Phe1351Val) c.1602T>G n.987T>G c.3103T>G (p.Phe1035Val) c.1222T>G (p.Phe408Val) c.568T>G (p.Phe190Val) n.4548T>G | |
| 12 | g.40309222T= | CA2031002978 | LRRK2 | c.4306T= (p.Phe1436=) c.*3215T= (n.*3215T=) c.4051T= (p.Phe1351=) c.1602T= n.987T= c.3103T= (p.Phe1035=) c.1222T= (p.Phe408=) c.568T= (p.Phe190=) n.4548T= | |
| 12 | g.40309223T>A | CA384418220 | LRRK2 | c.4307T>A (p.Phe1436Tyr) c.*3216T>A (n.*3216T>A) c.4052T>A (p.Phe1351Tyr) c.1603T>A n.988T>A c.3104T>A (p.Phe1035Tyr) c.1223T>A (p.Phe408Tyr) c.569T>A (p.Phe190Tyr) n.4549T>A | |
| 12 | g.40309223T>C | CA384418221 | LRRK2 | c.4307T>C (p.Phe1436Ser) c.*3216T>C (n.*3216T>C) c.4052T>C (p.Phe1351Ser) c.1603T>C n.988T>C c.3104T>C (p.Phe1035Ser) c.1223T>C (p.Phe408Ser) c.569T>C (p.Phe190Ser) n.4549T>C | |
| 12 | g.40309223T>G | CA384418222 | LRRK2 | c.4307T>G (p.Phe1436Cys) c.*3216T>G (n.*3216T>G) c.4052T>G (p.Phe1351Cys) c.1603T>G n.988T>G c.3104T>G (p.Phe1035Cys) c.1223T>G (p.Phe408Cys) c.569T>G (p.Phe190Cys) n.4549T>G | |
| 12 | g.40309224C>A | CA384418223 | LRRK2 | c.4308C>A (p.Phe1436Leu) c.*3217C>A (n.*3217C>A) c.4053C>A (p.Phe1351Leu) c.1604C>A n.989C>A c.3105C>A (p.Phe1035Leu) c.1224C>A (p.Phe408Leu) c.570C>A (p.Phe190Leu) n.4550C>A | |
| 12 | g.40309224C>G | CA384418224 | LRRK2 | c.4308C>G (p.Phe1436Leu) c.*3217C>G (n.*3217C>G) c.4053C>G (p.Phe1351Leu) c.1604C>G n.989C>G c.3105C>G (p.Phe1035Leu) c.1224C>G (p.Phe408Leu) c.570C>G (p.Phe190Leu) n.4550C>G | |
| 12 | g.40309224C>T | CA479259588 | LRRK2 | c.4308C>T (p.Phe1436=) c.*3217C>T (n.*3217C>T) c.4053C>T (p.Phe1351=) c.1604C>T n.989C>T c.3105C>T (p.Phe1035=) c.1224C>T (p.Phe408=) c.570C>T (p.Phe190=) n.4550C>T | ClinVar COSMIC |
| 12 | g.40309225A= | CA2031002985 | LRRK2 | c.4309A= (p.Asn1437=) c.*3218A= (n.*3218A=) c.4054A= (p.Asn1352=) c.1605A= n.990A= c.3106A= (p.Asn1036=) c.1225A= (p.Asn409=) c.571A= (p.Asn191=) n.4551A= | |
| 12 | g.40309225A>C | CA343577 | LRRK2 | c.4309A>C (p.Asn1437His) c.*3218A>C (n.*3218A>C) c.4054A>C (p.Asn1352His) c.1605A>C n.990A>C c.3106A>C (p.Asn1036His) c.1225A>C (p.Asn409His) c.571A>C (p.Asn191His) n.4551A>C | ClinVar dbSNP |
| 12 | g.40309225A>G | CA384418225 | LRRK2 | c.4309A>G (p.Asn1437Asp) c.*3218A>G (n.*3218A>G) c.4054A>G (p.Asn1352Asp) c.1605A>G n.990A>G c.3106A>G (p.Asn1036Asp) c.1225A>G (p.Asn409Asp) c.571A>G (p.Asn191Asp) n.4551A>G | |
| 12 | g.40309225A>T | CA384418226 | LRRK2 | c.4309A>T (p.Asn1437Tyr) c.*3218A>T (n.*3218A>T) c.4054A>T (p.Asn1352Tyr) c.1605A>T n.990A>T c.3106A>T (p.Asn1036Tyr) c.1225A>T (p.Asn409Tyr) c.571A>T (p.Asn191Tyr) n.4551A>T | |
| 12 | g.40309226A= | CA2031002993 | LRRK2 | c.4310A= (p.Asn1437=) c.*3219A= (n.*3219A=) c.4055A= (p.Asn1352=) c.1606A= n.991A= c.3107A= (p.Asn1036=) c.1226A= (p.Asn409=) c.572A= (p.Asn191=) n.4552A= | |
| 12 | g.40309226A>C | CA384418227 | LRRK2 | c.4310A>C (p.Asn1437Thr) c.*3219A>C (n.*3219A>C) c.4055A>C (p.Asn1352Thr) c.1606A>C n.991A>C c.3107A>C (p.Asn1036Thr) c.1226A>C (p.Asn409Thr) c.572A>C (p.Asn191Thr) n.4552A>C | |
| 12 | g.40309226A>G | CA384418228 | LRRK2 | c.4310A>G (p.Asn1437Ser) c.*3219A>G (n.*3219A>G) c.4055A>G (p.Asn1352Ser) c.1606A>G n.991A>G c.3107A>G (p.Asn1036Ser) c.1226A>G (p.Asn409Ser) c.572A>G (p.Asn191Ser) n.4552A>G | ClinVar dbSNP |
| 12 | g.40309226A>T | CA384418229 | LRRK2 | c.4310A>T (p.Asn1437Ile) c.*3219A>T (n.*3219A>T) c.4055A>T (p.Asn1352Ile) c.1606A>T n.991A>T c.3107A>T (p.Asn1036Ile) c.1226A>T (p.Asn409Ile) c.572A>T (p.Asn191Ile) n.4552A>T | |
| 12 | g.40309227T>A | CA384418231 | LRRK2 | c.4311T>A (p.Asn1437Lys) c.*3220T>A (n.*3220T>A) c.4056T>A (p.Asn1352Lys) c.1607T>A n.992T>A c.3108T>A (p.Asn1036Lys) c.1227T>A (p.Asn409Lys) c.573T>A (p.Asn191Lys) n.4553T>A | |
| 12 | g.40309227T>C | CA479259603 | LRRK2 | c.4311T>C (p.Asn1437=) c.*3220T>C (n.*3220T>C) c.4056T>C (p.Asn1352=) c.1607T>C n.992T>C c.3108T>C (p.Asn1036=) c.1227T>C (p.Asn409=) c.573T>C (p.Asn191=) n.4553T>C | |
| 12 | g.40309227T>G | CA384418230 | LRRK2 | c.4311T>G (p.Asn1437Lys) c.*3220T>G (n.*3220T>G) c.4056T>G (p.Asn1352Lys) c.1607T>G n.992T>G c.3108T>G (p.Asn1036Lys) c.1227T>G (p.Asn409Lys) c.573T>G (p.Asn191Lys) n.4553T>G | |
| 12 | g.40309228A= | CA2031003001 | LRRK2 | c.4312A= (p.Ile1438=) c.*3221A= (n.*3221A=) c.4057A= (p.Ile1353=) c.1608A= n.993A= c.3109A= (p.Ile1037=) c.1228A= (p.Ile410=) c.574A= (p.Ile192=) n.4554A= | |
| 12 | g.40309228A>C | CA384418232 | LRRK2 | c.4312A>C (p.Ile1438Leu) c.*3221A>C (n.*3221A>C) c.4057A>C (p.Ile1353Leu) c.1608A>C n.993A>C c.3109A>C (p.Ile1037Leu) c.1228A>C (p.Ile410Leu) c.574A>C (p.Ile192Leu) n.4554A>C | |
| 12 | g.40309228A>G | CA384418233 | LRRK2 | c.4312A>G (p.Ile1438Val) c.*3221A>G (n.*3221A>G) c.4057A>G (p.Ile1353Val) c.1608A>G n.993A>G c.3109A>G (p.Ile1037Val) c.1228A>G (p.Ile410Val) c.574A>G (p.Ile192Val) n.4554A>G | dbSNP gnomAD v4 |
| 12 | g.40309228A>T | CA384418234 | LRRK2 | c.4312A>T (p.Ile1438Leu) c.*3221A>T (n.*3221A>T) c.4057A>T (p.Ile1353Leu) c.1608A>T n.993A>T c.3109A>T (p.Ile1037Leu) c.1228A>T (p.Ile410Leu) c.574A>T (p.Ile192Leu) n.4554A>T | |
| 12 | g.40309229T>A | CA384418235 | LRRK2 | c.4313T>A (p.Ile1438Lys) c.*3222T>A (n.*3222T>A) c.4058T>A (p.Ile1353Lys) c.1609T>A n.994T>A c.3110T>A (p.Ile1037Lys) c.1229T>A (p.Ile410Lys) c.575T>A (p.Ile192Lys) n.4555T>A | |
| 12 | g.40309229T>C | CA384418236 | LRRK2 | c.4313T>C (p.Ile1438Thr) c.*3222T>C (n.*3222T>C) c.4058T>C (p.Ile1353Thr) c.1609T>C n.994T>C c.3110T>C (p.Ile1037Thr) c.1229T>C (p.Ile410Thr) c.575T>C (p.Ile192Thr) n.4555T>C | gnomAD v4 |
| 12 | g.40309229T>G | CA384418237 | LRRK2 | c.4313T>G (p.Ile1438Arg) c.*3222T>G (n.*3222T>G) c.4058T>G (p.Ile1353Arg) c.1609T>G n.994T>G c.3110T>G (p.Ile1037Arg) c.1229T>G (p.Ile410Arg) c.575T>G (p.Ile192Arg) n.4555T>G | |
| 12 | g.40309230A= | CA2031003005 | LRRK2 | c.4314A= (p.Ile1438=) c.*3223A= (n.*3223A=) c.4059A= (p.Ile1353=) c.1610A= n.995A= c.3111A= (p.Ile1037=) c.1230A= (p.Ile410=) c.576A= (p.Ile192=) n.4556A= | |
| 12 | g.40309230A>C | CA479259617 | LRRK2 | c.4314A>C (p.Ile1438=) c.*3223A>C (n.*3223A>C) c.4059A>C (p.Ile1353=) c.1610A>C n.995A>C c.3111A>C (p.Ile1037=) c.1230A>C (p.Ile410=) c.576A>C (p.Ile192=) n.4556A>C | |
| 12 | g.40309230A>G | CA10581612 | LRRK2 | c.4314A>G (p.Ile1438Met) c.*3223A>G (n.*3223A>G) c.4059A>G (p.Ile1353Met) c.1610A>G n.995A>G c.3111A>G (p.Ile1037Met) c.1230A>G (p.Ile410Met) c.576A>G (p.Ile192Met) n.4556A>G | ClinVar dbSNP |
| 12 | g.40309230A>T | CA479259622 | LRRK2 | c.4314A>T (p.Ile1438=) c.*3223A>T (n.*3223A>T) c.4059A>T (p.Ile1353=) c.1610A>T n.995A>T c.3111A>T (p.Ile1037=) c.1230A>T (p.Ile410=) c.576A>T (p.Ile192=) n.4556A>T | |
| 12 | g.40309231A>C | CA384418240 | LRRK2 | c.4315A>C (p.Lys1439Gln) c.*3224A>C (n.*3224A>C) c.4060A>C (p.Lys1354Gln) c.1611A>C n.996A>C c.3112A>C (p.Lys1038Gln) c.1231A>C (p.Lys411Gln) c.577A>C (p.Lys193Gln) n.4557A>C | |
| 12 | g.40309231A>G | CA384418238 | LRRK2 | c.4315A>G (p.Lys1439Glu) c.*3224A>G (n.*3224A>G) c.4060A>G (p.Lys1354Glu) c.1611A>G n.996A>G c.3112A>G (p.Lys1038Glu) c.1231A>G (p.Lys411Glu) c.577A>G (p.Lys193Glu) n.4557A>G | |
| 12 | g.40309231A>T | CA384418239 | LRRK2 | c.4315A>T (p.Lys1439Ter) c.*3224A>T (n.*3224A>T) c.4060A>T (p.Lys1354Ter) c.1611A>T n.996A>T c.3112A>T (p.Lys1038Ter) c.1231A>T (p.Lys411Ter) c.577A>T (p.Lys193Ter) n.4557A>T | |
| 12 | g.40309232A= | CA2031003011 | LRRK2 | c.4316A= (p.Lys1439=) c.*3225A= (n.*3225A=) c.4061A= (p.Lys1354=) c.1612A= n.997A= c.3113A= (p.Lys1038=) c.1232A= (p.Lys411=) c.578A= (p.Lys193=) n.4558A= | |
| 12 | g.40309232A>C | CA384418241 | LRRK2 | c.4316A>C (p.Lys1439Thr) c.*3225A>C (n.*3225A>C) c.4061A>C (p.Lys1354Thr) c.1612A>C n.997A>C c.3113A>C (p.Lys1038Thr) c.1232A>C (p.Lys411Thr) c.578A>C (p.Lys193Thr) n.4558A>C | |
| 12 | g.40309232A>G | CA384418242 | LRRK2 | c.4316A>G (p.Lys1439Arg) c.*3225A>G (n.*3225A>G) c.4061A>G (p.Lys1354Arg) c.1612A>G n.997A>G c.3113A>G (p.Lys1038Arg) c.1232A>G (p.Lys411Arg) c.578A>G (p.Lys193Arg) n.4558A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.40309232A>T | CA384418243 | LRRK2 | c.4316A>T (p.Lys1439Met) c.*3225A>T (n.*3225A>T) c.4061A>T (p.Lys1354Met) c.1612A>T n.997A>T c.3113A>T (p.Lys1038Met) c.1232A>T (p.Lys411Met) c.578A>T (p.Lys193Met) n.4558A>T | gnomAD v4 |
| 12 | g.40309233G>A | CA479259637 | LRRK2 | c.4317G>A (p.Lys1439=) c.*3226G>A (n.*3226G>A) c.4062G>A (p.Lys1354=) c.1613G>A n.998G>A c.3114G>A (p.Lys1038=) c.1233G>A (p.Lys411=) c.579G>A (p.Lys193=) n.4559G>A | |
| 12 | g.40309233G>C | CA384418244 | LRRK2 | c.4317G>C (p.Lys1439Asn) c.*3226G>C (n.*3226G>C) c.4062G>C (p.Lys1354Asn) c.1613G>C n.998G>C c.3114G>C (p.Lys1038Asn) c.1233G>C (p.Lys411Asn) c.579G>C (p.Lys193Asn) n.4559G>C | |
| 12 | g.40309233G>T | CA384418245 | LRRK2 | c.4317G>T (p.Lys1439Asn) c.*3226G>T (n.*3226G>T) c.4062G>T (p.Lys1354Asn) c.1613G>T n.998G>T c.3114G>T (p.Lys1038Asn) c.1233G>T (p.Lys411Asn) c.579G>T (p.Lys193Asn) n.4559G>T | |
| 12 | g.40309234G>A | CA384418246 | LRRK2 | c.4317+1G>A (n.4317+1G>A) c.*3226+1G>A (n.*3226+1G>A) c.4062+1G>A (n.4062+1G>A) c.1613+1G>A n.998+1G>A c.3114+1G>A (n.3114+1G>A) c.1233+1G>A (n.1233+1G>A) c.579+1G>A (n.579+1G>A) n.4559+1G>A | dbSNP |
| 12 | g.40309234G>C | CA384418248 | LRRK2 | c.4317+1G>C (n.4317+1G>C) c.*3226+1G>C (n.*3226+1G>C) c.4062+1G>C (n.4062+1G>C) c.1613+1G>C n.998+1G>C c.3114+1G>C (n.3114+1G>C) c.1233+1G>C (n.1233+1G>C) c.579+1G>C (n.579+1G>C) n.4559+1G>C | |
| 12 | g.40309234G= | CA2031003016 | LRRK2 | c.4317+1G= (n.4317+1G=) c.*3226+1G= (n.*3226+1G=) c.4062+1G= (n.4062+1G=) c.1613+1G= n.998+1G= c.3114+1G= (n.3114+1G=) c.1233+1G= (n.1233+1G=) c.579+1G= (n.579+1G=) n.4559+1G= | |
| 12 | g.40309234G>T | CA384418247 | LRRK2 | c.4317+1G>T (n.4317+1G>T) c.*3226+1G>T (n.*3226+1G>T) c.4062+1G>T (n.4062+1G>T) c.1613+1G>T n.998+1G>T c.3114+1G>T (n.3114+1G>T) c.1233+1G>T (n.1233+1G>T) c.579+1G>T (n.579+1G>T) n.4559+1G>T | |
| 12 | g.40309235T>A | CA384418249 | LRRK2 | c.4317+2T>A (n.4317+2T>A) c.*3226+2T>A (n.*3226+2T>A) c.4062+2T>A (n.4062+2T>A) c.1613+2T>A n.998+2T>A c.3114+2T>A (n.3114+2T>A) c.1233+2T>A (n.1233+2T>A) c.579+2T>A (n.579+2T>A) n.4559+2T>A | |
| 12 | g.40309235T>C | CA384418250 | LRRK2 | c.4317+2T>C (n.4317+2T>C) c.*3226+2T>C (n.*3226+2T>C) c.4062+2T>C (n.4062+2T>C) c.1613+2T>C n.998+2T>C c.3114+2T>C (n.3114+2T>C) c.1233+2T>C (n.1233+2T>C) c.579+2T>C (n.579+2T>C) n.4559+2T>C | |
| 12 | g.40309235T>G | CA384418251 | LRRK2 | c.4317+2T>G (n.4317+2T>G) c.*3226+2T>G (n.*3226+2T>G) c.4062+2T>G (n.4062+2T>G) c.1613+2T>G n.998+2T>G c.3114+2T>G (n.3114+2T>G) c.1233+2T>G (n.1233+2T>G) c.579+2T>G (n.579+2T>G) n.4559+2T>G | |
| 12 | g.40309235T= | CA2031003018 | LRRK2 | c.4317+2T= (n.4317+2T=) c.*3226+2T= (n.*3226+2T=) c.4062+2T= (n.4062+2T=) c.1613+2T= n.998+2T= c.3114+2T= (n.3114+2T=) c.1233+2T= (n.1233+2T=) c.579+2T= (n.579+2T=) n.4559+2T= | |
| 12 | g.40309235_40309236insTA | CA2031003023 | LRRK2 | c.4317+2_4317+3insTA (n.4317+2_4317+3insTA) c.*3226+2_*3226+3insTA (n.*3226+2_*3226+3insTA) c.4062+2_4062+3insTA (n.4062+2_4062+3insTA) c.1613+2_1613+3insTA n.998+2_998+3insTA c.3114+2_3114+3insTA (n.3114+2_3114+3insTA) c.1233+2_1233+3insTA (n.1233+2_1233+3insTA) c.579+2_579+3insTA (n.579+2_579+3insTA) n.4559+2_4559+3insTA | dbSNP |
| 12 | g.40309236G>A | CA6514127 | LRRK2 | c.4317+3G>A (n.4317+3G>A) c.*3226+3G>A (n.*3226+3G>A) c.4062+3G>A (n.4062+3G>A) c.1613+3G>A n.998+3G>A c.3114+3G>A (n.3114+3G>A) c.1233+3G>A (n.1233+3G>A) c.579+3G>A (n.579+3G>A) n.4559+3G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40309236G>C | CA2795669103 | LRRK2 | c.4317+3G>C (n.4317+3G>C) c.*3226+3G>C (n.*3226+3G>C) c.4062+3G>C (n.4062+3G>C) c.1613+3G>C n.998+3G>C c.3114+3G>C (n.3114+3G>C) c.1233+3G>C (n.1233+3G>C) c.579+3G>C (n.579+3G>C) n.4559+3G>C | |
| 12 | g.40309236G= | CA2031003021 | LRRK2 | c.4317+3G= (n.4317+3G=) c.*3226+3G= (n.*3226+3G=) c.4062+3G= (n.4062+3G=) c.1613+3G= n.998+3G= c.3114+3G= (n.3114+3G=) c.1233+3G= (n.1233+3G=) c.579+3G= (n.579+3G=) n.4559+3G= | |
| 12 | g.40309236G>T | CA2031003034 | LRRK2 | c.4317+3G>T (n.4317+3G>T) c.*3226+3G>T (n.*3226+3G>T) c.4062+3G>T (n.4062+3G>T) c.1613+3G>T n.998+3G>T c.3114+3G>T (n.3114+3G>T) c.1233+3G>T (n.1233+3G>T) c.579+3G>T (n.579+3G>T) n.4559+3G>T | dbSNP |
| 12 | g.40309237A= | CA2031003043 | LRRK2 | c.4317+4A= (n.4317+4A=) c.*3226+4A= (n.*3226+4A=) c.4062+4A= (n.4062+4A=) c.1613+4A= n.998+4A= c.3114+4A= (n.3114+4A=) c.1233+4A= (n.1233+4A=) c.579+4A= (n.579+4A=) n.4559+4A= | |
| 12 | g.40309237A>T | CA6514128 | LRRK2 | c.4317+4A>T (n.4317+4A>T) c.*3226+4A>T (n.*3226+4A>T) c.4062+4A>T (n.4062+4A>T) c.1613+4A>T n.998+4A>T c.3114+4A>T (n.3114+4A>T) c.1233+4A>T (n.1233+4A>T) c.579+4A>T (n.579+4A>T) n.4559+4A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |