| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.40363537_40363540del | CA2575122361 | LRRK2 | c.7164_7167del (p.Asp2388GlufsTer5) c.961_964del c.*6073_*6076del (n.*6073_*6076del) c.2938_2941del c.954_957del c.2609_2612del (n.2609_2612del) c.4251_4254del c.2331_2334del (n.2331_2334del) c.2621_2624del c.6909_6912del (p.Asp2303GlufsTer5) n.3148_3151del c.2847_2850del (p.Asp949GlufsTer5) n.371_374del c.4460_4463del n.3845_3848del c.5961_5964del (p.Asp1987GlufsTer5) n.485-8713_485-8710del c.4080_4083del (p.Asp1360GlufsTer5) c.3426_3429del (p.Asp1142GlufsTer5) | |
| 12 | g.40363541_40363544del | CA2618286438 | LRRK2 | c.7168_7171del (p.Val2390ThrfsTer3) c.965_968del c.*6077_*6080del (n.*6077_*6080del) c.2942_2945del c.958_961del c.2613_2616del (n.2613_2616del) c.4255_4258del c.2335_2338del (n.2335_2338del) c.2625_2628del c.6913_6916del (p.Val2305ThrfsTer3) n.3152_3155del c.2851_2854del (p.Val951ThrfsTer3) n.375_378del c.4464_4467del n.3849_3852del c.5965_5968del (p.Val1989ThrfsTer3) n.485-8714_485-8711del c.4084_4087del (p.Val1362ThrfsTer3) c.3430_3433del (p.Val1144ThrfsTer3) | gnomAD v4 |
| 12 | g.40363540C>A | CA6514856 | LRRK2 | c.7167C>A (p.Cys2389Ter) c.964C>A c.*6076C>A (n.*6076C>A) c.2941C>A c.957C>A c.2612C>A (n.2612C>A) c.4254C>A c.2334C>A (n.2334C>A) c.2624C>A c.6912C>A (p.Cys2304Ter) n.3151C>A c.2850C>A (p.Cys950Ter) n.374C>A c.4463C>A n.3848C>A c.5964C>A (p.Cys1988Ter) n.485-8713G>T c.4083C>A (p.Cys1361Ter) c.3429C>A (p.Cys1143Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.40363540C= | CA2031026067 | LRRK2 | c.7167C= (p.Cys2389=) c.964C= c.*6076C= (n.*6076C=) c.2941C= c.957C= c.2612C= (n.2612C=) c.4254C= c.2334C= (n.2334C=) c.2624C= c.6912C= (p.Cys2304=) n.3151C= c.2850C= (p.Cys950=) n.374C= c.4463C= n.3848C= c.5964C= (p.Cys1988=) n.485-8713G= c.4083C= (p.Cys1361=) c.3429C= (p.Cys1143=) | |
| 12 | g.40363540C>G | CA6514857 | LRRK2 | c.7167C>G (p.Cys2389Trp) c.964C>G c.*6076C>G (n.*6076C>G) c.2941C>G c.957C>G c.2612C>G (n.2612C>G) c.4254C>G c.2334C>G (n.2334C>G) c.2624C>G c.6912C>G (p.Cys2304Trp) n.3151C>G c.2850C>G (p.Cys950Trp) n.374C>G c.4463C>G n.3848C>G c.5964C>G (p.Cys1988Trp) n.485-8713G>C c.4083C>G (p.Cys1361Trp) c.3429C>G (p.Cys1143Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.40363540C>T | CA6514855 | LRRK2 | c.7167C>T (p.Cys2389=) c.964C>T c.*6076C>T (n.*6076C>T) c.2941C>T c.957C>T c.2612C>T (n.2612C>T) c.4254C>T c.2334C>T (n.2334C>T) c.2624C>T c.6912C>T (p.Cys2304=) n.3151C>T c.2850C>T (p.Cys950=) n.374C>T c.4463C>T n.3848C>T c.5964C>T (p.Cys1988=) n.485-8713G>A c.4083C>T (p.Cys1361=) c.3429C>T (p.Cys1143=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.40363541G>A | CA343681 | LRRK2 | c.7168G>A (p.Val2390Met) c.965G>A c.*6077G>A (n.*6077G>A) c.2942G>A c.958G>A c.2613G>A (n.2613G>A) c.4255G>A c.2335G>A (n.2335G>A) c.2625G>A c.6913G>A (p.Val2305Met) n.3152G>A c.2851G>A (p.Val951Met) n.375G>A c.4464G>A n.3849G>A c.5965G>A (p.Val1989Met) n.485-8714C>T c.4084G>A (p.Val1362Met) c.3430G>A (p.Val1144Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40363541G>C | CA384413602 | LRRK2 | c.7168G>C (p.Val2390Leu) c.965G>C c.*6077G>C (n.*6077G>C) c.2942G>C c.958G>C c.2613G>C (n.2613G>C) c.4255G>C c.2335G>C (n.2335G>C) c.2625G>C c.6913G>C (p.Val2305Leu) n.3152G>C c.2851G>C (p.Val951Leu) n.375G>C c.4464G>C n.3849G>C c.5965G>C (p.Val1989Leu) n.485-8714C>G c.4084G>C (p.Val1362Leu) c.3430G>C (p.Val1144Leu) | |
| 12 | g.40363541G= | CA2031026077 | LRRK2 | c.7168G= (p.Val2390=) c.965G= c.*6077G= (n.*6077G=) c.2942G= c.958G= c.2613G= (n.2613G=) c.4255G= c.2335G= (n.2335G=) c.2625G= c.6913G= (p.Val2305=) n.3152G= c.2851G= (p.Val951=) n.375G= c.4464G= n.3849G= c.5965G= (p.Val1989=) n.485-8714C= c.4084G= (p.Val1362=) c.3430G= (p.Val1144=) | |
| 12 | g.40363541G>T | CA384413603 | LRRK2 | c.7168G>T (p.Val2390Leu) c.965G>T c.*6077G>T (n.*6077G>T) c.2942G>T c.958G>T c.2613G>T (n.2613G>T) c.4255G>T c.2335G>T (n.2335G>T) c.2625G>T c.6913G>T (p.Val2305Leu) n.3152G>T c.2851G>T (p.Val951Leu) n.375G>T c.4464G>T n.3849G>T c.5965G>T (p.Val1989Leu) n.485-8714C>A c.4084G>T (p.Val1362Leu) c.3430G>T (p.Val1144Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.40363542T>A | CA235359710 | LRRK2 | c.7169T>A (p.Val2390Glu) c.966T>A c.*6078T>A (n.*6078T>A) c.2943T>A c.959T>A c.2614T>A (n.2614T>A) c.4256T>A c.2336T>A (n.2336T>A) c.2626T>A c.6914T>A (p.Val2305Glu) n.3153T>A c.2852T>A (p.Val951Glu) n.376T>A c.4465T>A n.3850T>A c.5966T>A (p.Val1989Glu) n.485-8715A>T c.4085T>A (p.Val1362Glu) c.3431T>A (p.Val1144Glu) | dbSNP |
| 12 | g.40363542T>C | CA6514858 | LRRK2 | c.7169T>C (p.Val2390Ala) c.966T>C c.*6078T>C (n.*6078T>C) c.2943T>C c.959T>C c.2614T>C (n.2614T>C) c.4256T>C c.2336T>C (n.2336T>C) c.2626T>C c.6914T>C (p.Val2305Ala) n.3153T>C c.2852T>C (p.Val951Ala) n.376T>C c.4465T>C n.3850T>C c.5966T>C (p.Val1989Ala) n.485-8715A>G c.4085T>C (p.Val1362Ala) c.3431T>C (p.Val1144Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40363542T>G | CA384413604 | LRRK2 | c.7169T>G (p.Val2390Gly) c.966T>G c.*6078T>G (n.*6078T>G) c.2943T>G c.959T>G c.2614T>G (n.2614T>G) c.4256T>G c.2336T>G (n.2336T>G) c.2626T>G c.6914T>G (p.Val2305Gly) n.3153T>G c.2852T>G (p.Val951Gly) n.376T>G c.4465T>G n.3850T>G c.5966T>G (p.Val1989Gly) n.485-8715A>C c.4085T>G (p.Val1362Gly) c.3431T>G (p.Val1144Gly) | |
| 12 | g.40363542T= | CA2031026083 | LRRK2 | c.7169T= (p.Val2390=) c.966T= c.*6078T= (n.*6078T=) c.2943T= c.959T= c.2614T= (n.2614T=) c.4256T= c.2336T= (n.2336T=) c.2626T= c.6914T= (p.Val2305=) n.3153T= c.2852T= (p.Val951=) n.376T= c.4465T= n.3850T= c.5966T= (p.Val1989=) n.485-8715A= c.4085T= (p.Val1362=) c.3431T= (p.Val1144=) | |
| 12 | g.40363543G>A | CA479247642 | LRRK2 | c.7170G>A (p.Val2390=) c.967G>A c.*6079G>A (n.*6079G>A) c.2944G>A c.960G>A c.2615G>A (n.2615G>A) c.4257G>A c.2337G>A (n.2337G>A) c.2627G>A c.6915G>A (p.Val2305=) n.3154G>A c.2853G>A (p.Val951=) n.377G>A c.4466G>A n.3851G>A c.5967G>A (p.Val1989=) n.485-8716C>T c.4086G>A (p.Val1362=) c.3432G>A (p.Val1144=) | dbSNP |
| 12 | g.40363543G>C | CA479247641 | LRRK2 | c.7170G>C (p.Val2390=) c.967G>C c.*6079G>C (n.*6079G>C) c.2944G>C c.960G>C c.2615G>C (n.2615G>C) c.4257G>C c.2337G>C (n.2337G>C) c.2627G>C c.6915G>C (p.Val2305=) n.3154G>C c.2853G>C (p.Val951=) n.377G>C c.4466G>C n.3851G>C c.5967G>C (p.Val1989=) n.485-8716C>G c.4086G>C (p.Val1362=) c.3432G>C (p.Val1144=) | |
| 12 | g.40363543G= | CA2031026084 | LRRK2 | c.7170G= (p.Val2390=) c.967G= c.*6079G= (n.*6079G=) c.2944G= c.960G= c.2615G= (n.2615G=) c.4257G= c.2337G= (n.2337G=) c.2627G= c.6915G= (p.Val2305=) n.3154G= c.2853G= (p.Val951=) n.377G= c.4466G= n.3851G= c.5967G= (p.Val1989=) n.485-8716C= c.4086G= (p.Val1362=) c.3432G= (p.Val1144=) | |
| 12 | g.40363543G>T | CA479247639 | LRRK2 | c.7170G>T (p.Val2390=) c.967G>T c.*6079G>T (n.*6079G>T) c.2944G>T c.960G>T c.2615G>T (n.2615G>T) c.4257G>T c.2337G>T (n.2337G>T) c.2627G>T c.6915G>T (p.Val2305=) n.3154G>T c.2853G>T (p.Val951=) n.377G>T c.4466G>T n.3851G>T c.5967G>T (p.Val1989=) n.485-8716C>A c.4086G>T (p.Val1362=) c.3432G>T (p.Val1144=) | dbSNP gnomAD v4 |
| 12 | g.40363544C>A | CA384413607 | LRRK2 | c.7171C>A (p.His2391Asn) c.968C>A c.*6080C>A (n.*6080C>A) c.2945C>A c.961C>A c.2616C>A (n.2616C>A) c.4258C>A c.2338C>A (n.2338C>A) c.2628C>A c.6916C>A (p.His2306Asn) n.3155C>A c.2854C>A (p.His952Asn) n.378C>A c.4467C>A n.3852C>A c.5968C>A (p.His1990Asn) n.485-8717G>T c.4087C>A (p.His1363Asn) c.3433C>A (p.His1145Asn) | |
| 12 | g.40363544C>G | CA384413608 | LRRK2 | c.7171C>G (p.His2391Asp) c.968C>G c.*6080C>G (n.*6080C>G) c.2945C>G c.961C>G c.2616C>G (n.2616C>G) c.4258C>G c.2338C>G (n.2338C>G) c.2628C>G c.6916C>G (p.His2306Asp) n.3155C>G c.2854C>G (p.His952Asp) n.378C>G c.4467C>G n.3852C>G c.5968C>G (p.His1990Asp) n.485-8717G>C c.4087C>G (p.His1363Asp) c.3433C>G (p.His1145Asp) | |
| 12 | g.40363544C>T | CA384413610 | LRRK2 | c.7171C>T (p.His2391Tyr) c.968C>T c.*6080C>T (n.*6080C>T) c.2945C>T c.961C>T c.2616C>T (n.2616C>T) c.4258C>T c.2338C>T (n.2338C>T) c.2628C>T c.6916C>T (p.His2306Tyr) n.3155C>T c.2854C>T (p.His952Tyr) n.378C>T c.4467C>T n.3852C>T c.5968C>T (p.His1990Tyr) n.485-8717G>A c.4087C>T (p.His1363Tyr) c.3433C>T (p.His1145Tyr) | gnomAD v4 COSMIC COSMIC |
| 12 | g.40363545A>C | CA384413612 | LRRK2 | c.7172A>C (p.His2391Pro) c.969A>C c.*6081A>C (n.*6081A>C) c.2946A>C c.962A>C c.2617A>C (n.2617A>C) c.4259A>C c.2339A>C (n.2339A>C) c.2629A>C c.6917A>C (p.His2306Pro) n.3156A>C c.2855A>C (p.His952Pro) n.379A>C c.4468A>C n.3853A>C c.5969A>C (p.His1990Pro) n.485-8718T>G c.4088A>C (p.His1363Pro) c.3434A>C (p.His1145Pro) | gnomAD v4 |
| 12 | g.40363545A>G | CA384413614 | LRRK2 | c.7172A>G (p.His2391Arg) c.969A>G c.*6081A>G (n.*6081A>G) c.2946A>G c.962A>G c.2617A>G (n.2617A>G) c.4259A>G c.2339A>G (n.2339A>G) c.2629A>G c.6917A>G (p.His2306Arg) n.3156A>G c.2855A>G (p.His952Arg) n.379A>G c.4468A>G n.3853A>G c.5969A>G (p.His1990Arg) n.485-8718T>C c.4088A>G (p.His1363Arg) c.3434A>G (p.His1145Arg) | COSMIC COSMIC |
| 12 | g.40363545A>T | CA384413615 | LRRK2 | c.7172A>T (p.His2391Leu) c.969A>T c.*6081A>T (n.*6081A>T) c.2946A>T c.962A>T c.2617A>T (n.2617A>T) c.4259A>T c.2339A>T (n.2339A>T) c.2629A>T c.6917A>T (p.His2306Leu) n.3156A>T c.2855A>T (p.His952Leu) n.379A>T c.4468A>T n.3853A>T c.5969A>T (p.His1990Leu) n.485-8718T>A c.4088A>T (p.His1363Leu) c.3434A>T (p.His1145Leu) | |
| 12 | g.40363546C>A | CA384413617 | LRRK2 | c.7173C>A (p.His2391Gln) c.970C>A c.*6082C>A (n.*6082C>A) c.2947C>A c.963C>A c.2618C>A (n.2618C>A) c.4260C>A c.2340C>A (n.2340C>A) c.2630C>A c.6918C>A (p.His2306Gln) n.3157C>A c.2856C>A (p.His952Gln) n.380C>A c.4469C>A n.3854C>A c.5970C>A (p.His1990Gln) n.485-8719G>T c.4089C>A (p.His1363Gln) c.3435C>A (p.His1145Gln) | |
| 12 | g.40363546C= | CA2031026090 | LRRK2 | c.7173C= (p.His2391=) c.970C= c.*6082C= (n.*6082C=) c.2947C= c.963C= c.2618C= (n.2618C=) c.4260C= c.2340C= (n.2340C=) c.2630C= c.6918C= (p.His2306=) n.3157C= c.2856C= (p.His952=) n.380C= c.4469C= n.3854C= c.5970C= (p.His1990=) n.485-8719G= c.4089C= (p.His1363=) c.3435C= (p.His1145=) | |
| 12 | g.40363546C>G | CA6514859 | LRRK2 | c.7173C>G (p.His2391Gln) c.970C>G c.*6082C>G (n.*6082C>G) c.2947C>G c.963C>G c.2618C>G (n.2618C>G) c.4260C>G c.2340C>G (n.2340C>G) c.2630C>G c.6918C>G (p.His2306Gln) n.3157C>G c.2856C>G (p.His952Gln) n.380C>G c.4469C>G n.3854C>G c.5970C>G (p.His1990Gln) n.485-8719G>C c.4089C>G (p.His1363Gln) c.3435C>G (p.His1145Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40363546C>T | CA479247652 | LRRK2 | c.7173C>T (p.His2391=) c.970C>T c.*6082C>T (n.*6082C>T) c.2947C>T c.963C>T c.2618C>T (n.2618C>T) c.4260C>T c.2340C>T (n.2340C>T) c.2630C>T c.6918C>T (p.His2306=) n.3157C>T c.2856C>T (p.His952=) n.380C>T c.4469C>T n.3854C>T c.5970C>T (p.His1990=) n.485-8719G>A c.4089C>T (p.His1363=) c.3435C>T (p.His1145=) | |
| 12 | g.40363547T>A | CA384413620 | LRRK2 | c.7174T>A (p.Phe2392Ile) c.971T>A c.*6083T>A (n.*6083T>A) c.2948T>A c.964T>A c.2619T>A (n.2619T>A) c.4261T>A c.2341T>A (n.2341T>A) c.2631T>A c.6919T>A (p.Phe2307Ile) n.3158T>A c.2857T>A (p.Phe953Ile) n.381T>A c.4470T>A n.3855T>A c.5971T>A (p.Phe1991Ile) n.485-8720A>T c.4090T>A (p.Phe1364Ile) c.3436T>A (p.Phe1146Ile) | |
| 12 | g.40363547T>C | CA384413622 | LRRK2 | c.7174T>C (p.Phe2392Leu) c.971T>C c.*6083T>C (n.*6083T>C) c.2948T>C c.964T>C c.2619T>C (n.2619T>C) c.4261T>C c.2341T>C (n.2341T>C) c.2631T>C c.6919T>C (p.Phe2307Leu) n.3158T>C c.2857T>C (p.Phe953Leu) n.381T>C c.4470T>C n.3855T>C c.5971T>C (p.Phe1991Leu) n.485-8720A>G c.4090T>C (p.Phe1364Leu) c.3436T>C (p.Phe1146Leu) | dbSNP |
| 12 | g.40363547T>G | CA384413623 | LRRK2 | c.7174T>G (p.Phe2392Val) c.971T>G c.*6083T>G (n.*6083T>G) c.2948T>G c.964T>G c.2619T>G (n.2619T>G) c.4261T>G c.2341T>G (n.2341T>G) c.2631T>G c.6919T>G (p.Phe2307Val) n.3158T>G c.2857T>G (p.Phe953Val) n.381T>G c.4470T>G n.3855T>G c.5971T>G (p.Phe1991Val) n.485-8720A>C c.4090T>G (p.Phe1364Val) c.3436T>G (p.Phe1146Val) | |
| 12 | g.40363548T>A | CA384413629 | LRRK2 | c.7175T>A (p.Phe2392Tyr) c.972T>A c.*6084T>A (n.*6084T>A) c.2949T>A c.965T>A c.2620T>A (n.2620T>A) c.4262T>A c.2342T>A (n.2342T>A) c.2632T>A c.6920T>A (p.Phe2307Tyr) n.3159T>A c.2858T>A (p.Phe953Tyr) n.382T>A c.4471T>A n.3856T>A c.5972T>A (p.Phe1991Tyr) n.485-8721A>T c.4091T>A (p.Phe1364Tyr) c.3437T>A (p.Phe1146Tyr) | |
| 12 | g.40363548T>C | CA384413627 | LRRK2 | c.7175T>C (p.Phe2392Ser) c.972T>C c.*6084T>C (n.*6084T>C) c.2949T>C c.965T>C c.2620T>C (n.2620T>C) c.4262T>C c.2342T>C (n.2342T>C) c.2632T>C c.6920T>C (p.Phe2307Ser) n.3159T>C c.2858T>C (p.Phe953Ser) n.382T>C c.4471T>C n.3856T>C c.5972T>C (p.Phe1991Ser) n.485-8721A>G c.4091T>C (p.Phe1364Ser) c.3437T>C (p.Phe1146Ser) | |
| 12 | g.40363548T>G | CA384413625 | LRRK2 | c.7175T>G (p.Phe2392Cys) c.972T>G c.*6084T>G (n.*6084T>G) c.2949T>G c.965T>G c.2620T>G (n.2620T>G) c.4262T>G c.2342T>G (n.2342T>G) c.2632T>G c.6920T>G (p.Phe2307Cys) n.3159T>G c.2858T>G (p.Phe953Cys) n.382T>G c.4471T>G n.3856T>G c.5972T>G (p.Phe1991Cys) n.485-8721A>C c.4091T>G (p.Phe1364Cys) c.3437T>G (p.Phe1146Cys) | gnomAD v4 |
| 12 | g.40363549T>A | CA384413631 | LRRK2 | c.7176T>A (p.Phe2392Leu) c.973T>A c.*6085T>A (n.*6085T>A) c.2950T>A c.966T>A c.2621T>A (n.2621T>A) c.4263T>A c.2343T>A (n.2343T>A) c.2633T>A c.6921T>A (p.Phe2307Leu) n.3160T>A c.2859T>A (p.Phe953Leu) n.383T>A c.4472T>A n.3857T>A c.5973T>A (p.Phe1991Leu) n.485-8722A>T c.4092T>A (p.Phe1364Leu) c.3438T>A (p.Phe1146Leu) | |
| 12 | g.40363549T>C | CA479247666 | LRRK2 | c.7176T>C (p.Phe2392=) c.973T>C c.*6085T>C (n.*6085T>C) c.2950T>C c.966T>C c.2621T>C (n.2621T>C) c.4263T>C c.2343T>C (n.2343T>C) c.2633T>C c.6921T>C (p.Phe2307=) n.3160T>C c.2859T>C (p.Phe953=) n.383T>C c.4472T>C n.3857T>C c.5973T>C (p.Phe1991=) n.485-8722A>G c.4092T>C (p.Phe1364=) c.3438T>C (p.Phe1146=) | gnomAD v4 |
| 12 | g.40363549T>G | CA384413632 | LRRK2 | c.7176T>G (p.Phe2392Leu) c.973T>G c.*6085T>G (n.*6085T>G) c.2950T>G c.966T>G c.2621T>G (n.2621T>G) c.4263T>G c.2343T>G (n.2343T>G) c.2633T>G c.6921T>G (p.Phe2307Leu) n.3160T>G c.2859T>G (p.Phe953Leu) n.383T>G c.4472T>G n.3857T>G c.5973T>G (p.Phe1991Leu) n.485-8722A>C c.4092T>G (p.Phe1364Leu) c.3438T>G (p.Phe1146Leu) | |
| 12 | g.40363550T>A | CA384413634 | LRRK2 | c.7177T>A (p.Leu2393Ile) c.974T>A c.*6086T>A (n.*6086T>A) c.2951T>A c.967T>A c.2622T>A (n.2622T>A) c.4264T>A c.2344T>A (n.2344T>A) c.2634T>A c.6922T>A (p.Leu2308Ile) n.3161T>A c.2860T>A (p.Leu954Ile) n.384T>A c.4473T>A n.3858T>A c.5974T>A (p.Leu1992Ile) n.485-8723A>T c.4093T>A (p.Leu1365Ile) c.3439T>A (p.Leu1147Ile) | |
| 12 | g.40363550T>C | CA479247670 | LRRK2 | c.7177T>C (p.Leu2393=) c.974T>C c.*6086T>C (n.*6086T>C) c.2951T>C c.967T>C c.2622T>C (n.2622T>C) c.4264T>C c.2344T>C (n.2344T>C) c.2634T>C c.6922T>C (p.Leu2308=) n.3161T>C c.2860T>C (p.Leu954=) n.384T>C c.4473T>C n.3858T>C c.5974T>C (p.Leu1992=) n.485-8723A>G c.4093T>C (p.Leu1365=) c.3439T>C (p.Leu1147=) | |
| 12 | g.40363550T>G | CA384413636 | LRRK2 | c.7177T>G (p.Leu2393Val) c.974T>G c.*6086T>G (n.*6086T>G) c.2951T>G c.967T>G c.2622T>G (n.2622T>G) c.4264T>G c.2344T>G (n.2344T>G) c.2634T>G c.6922T>G (p.Leu2308Val) n.3161T>G c.2860T>G (p.Leu954Val) n.384T>G c.4473T>G n.3858T>G c.5974T>G (p.Leu1992Val) n.485-8723A>C c.4093T>G (p.Leu1365Val) c.3439T>G (p.Leu1147Val) | |
| 12 | g.40363551T>A | CA384413637 | LRRK2 | c.7178T>A (p.Leu2393Ter) c.975T>A c.*6087T>A (n.*6087T>A) c.2952T>A c.968T>A c.2623T>A (n.2623T>A) c.4265T>A c.2345T>A (n.2345T>A) c.2635T>A c.6923T>A (p.Leu2308Ter) n.3162T>A c.2861T>A (p.Leu954Ter) n.385T>A c.4474T>A n.3859T>A c.5975T>A (p.Leu1992Ter) n.485-8724A>T c.4094T>A (p.Leu1365Ter) c.3440T>A (p.Leu1147Ter) | |
| 12 | g.40363551T>C | CA384413639 | LRRK2 | c.7178T>C (p.Leu2393Ser) c.975T>C c.*6087T>C (n.*6087T>C) c.2952T>C c.968T>C c.2623T>C (n.2623T>C) c.4265T>C c.2345T>C (n.2345T>C) c.2635T>C c.6923T>C (p.Leu2308Ser) n.3162T>C c.2861T>C (p.Leu954Ser) n.385T>C c.4474T>C n.3859T>C c.5975T>C (p.Leu1992Ser) n.485-8724A>G c.4094T>C (p.Leu1365Ser) c.3440T>C (p.Leu1147Ser) | |
| 12 | g.40363551T>G | CA384413641 | LRRK2 | c.7178T>G (p.Leu2393Ter) c.975T>G c.*6087T>G (n.*6087T>G) c.2952T>G c.968T>G c.2623T>G (n.2623T>G) c.4265T>G c.2345T>G (n.2345T>G) c.2635T>G c.6923T>G (p.Leu2308Ter) n.3162T>G c.2861T>G (p.Leu954Ter) n.385T>G c.4474T>G n.3859T>G c.5975T>G (p.Leu1992Ter) n.485-8724A>C c.4094T>G (p.Leu1365Ter) c.3440T>G (p.Leu1147Ter) | dbSNP gnomAD v4 |
| 12 | g.40363551T= | CA2031026094 | LRRK2 | c.7178T= (p.Leu2393=) c.975T= c.*6087T= (n.*6087T=) c.2952T= c.968T= c.2623T= (n.2623T=) c.4265T= c.2345T= (n.2345T=) c.2635T= c.6923T= (p.Leu2308=) n.3162T= c.2861T= (p.Leu954=) n.385T= c.4474T= n.3859T= c.5975T= (p.Leu1992=) n.485-8724A= c.4094T= (p.Leu1365=) c.3440T= (p.Leu1147=) | |
| 12 | g.40363552A>C | CA384413643 | LRRK2 | c.7179A>C (p.Leu2393Phe) c.976A>C c.*6088A>C (n.*6088A>C) c.2953A>C c.969A>C c.2624A>C (n.2624A>C) c.4266A>C c.2346A>C (n.2346A>C) c.2636A>C c.6924A>C (p.Leu2308Phe) n.3163A>C c.2862A>C (p.Leu954Phe) n.386A>C c.4475A>C n.3860A>C c.5976A>C (p.Leu1992Phe) n.485-8725T>G c.4095A>C (p.Leu1365Phe) c.3441A>C (p.Leu1147Phe) | |
| 12 | g.40363552A>G | CA479247675 | LRRK2 | c.7179A>G (p.Leu2393=) c.976A>G c.*6088A>G (n.*6088A>G) c.2953A>G c.969A>G c.2624A>G (n.2624A>G) c.4266A>G c.2346A>G (n.2346A>G) c.2636A>G c.6924A>G (p.Leu2308=) n.3163A>G c.2862A>G (p.Leu954=) n.386A>G c.4475A>G n.3860A>G c.5976A>G (p.Leu1992=) n.485-8725T>C c.4095A>G (p.Leu1365=) c.3441A>G (p.Leu1147=) | ClinVar gnomAD v4 |
| 12 | g.40363552A>T | CA384413644 | LRRK2 | c.7179A>T (p.Leu2393Phe) c.976A>T c.*6088A>T (n.*6088A>T) c.2953A>T c.969A>T c.2624A>T (n.2624A>T) c.4266A>T c.2346A>T (n.2346A>T) c.2636A>T c.6924A>T (p.Leu2308Phe) n.3163A>T c.2862A>T (p.Leu954Phe) n.386A>T c.4475A>T n.3860A>T c.5976A>T (p.Leu1992Phe) n.485-8725T>A c.4095A>T (p.Leu1365Phe) c.3441A>T (p.Leu1147Phe) | |
| 12 | g.40363553A= | CA2031026102 | LRRK2 | c.7180A= (p.Arg2394=) c.977A= c.*6089A= (n.*6089A=) c.2954A= c.970A= c.2625A= (n.2625A=) c.4267A= c.2347A= (n.2347A=) c.2637A= c.6925A= (p.Arg2309=) n.3164A= c.2863A= (p.Arg955=) n.387A= c.4476A= n.3861A= c.5977A= (p.Arg1993=) n.485-8726T= c.4096A= (p.Arg1366=) c.3442A= (p.Arg1148=) | |
| 12 | g.40363553A>C | CA6514860 | LRRK2 | c.7180A>C (p.Arg2394=) c.977A>C c.*6089A>C (n.*6089A>C) c.2954A>C c.970A>C c.2625A>C (n.2625A>C) c.4267A>C c.2347A>C (n.2347A>C) c.2637A>C c.6925A>C (p.Arg2309=) n.3164A>C c.2863A>C (p.Arg955=) n.387A>C c.4476A>C n.3861A>C c.5977A>C (p.Arg1993=) n.485-8726T>G c.4096A>C (p.Arg1366=) c.3442A>C (p.Arg1148=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40363553A>G | CA384413647 | LRRK2 | c.7180A>G (p.Arg2394Gly) c.977A>G c.*6089A>G (n.*6089A>G) c.2954A>G c.970A>G c.2625A>G (n.2625A>G) c.4267A>G c.2347A>G (n.2347A>G) c.2637A>G c.6925A>G (p.Arg2309Gly) n.3164A>G c.2863A>G (p.Arg955Gly) n.387A>G c.4476A>G n.3861A>G c.5977A>G (p.Arg1993Gly) n.485-8726T>C c.4096A>G (p.Arg1366Gly) c.3442A>G (p.Arg1148Gly) |