| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.40363426T>A | CA384413156 | LRRK2 | c.7053T>A (p.Asp2351Glu) c.850T>A c.*5962T>A (n.*5962T>A) c.2827T>A c.843T>A c.2498T>A (n.2498T>A) c.4140T>A c.2220T>A (n.2220T>A) c.2510T>A c.6798T>A (p.Asp2266Glu) n.3037T>A c.2736T>A (p.Asp912Glu) n.260T>A c.4349T>A n.3734T>A c.5850T>A (p.Asp1950Glu) n.485-8599A>T c.3969T>A (p.Asp1323Glu) c.3315T>A (p.Asp1105Glu) | |
| 12 | g.40363426T>C | CA6514841 | LRRK2 | c.7053T>C (p.Asp2351=) c.850T>C c.*5962T>C (n.*5962T>C) c.2827T>C c.843T>C c.2498T>C (n.2498T>C) c.4140T>C c.2220T>C (n.2220T>C) c.2510T>C c.6798T>C (p.Asp2266=) n.3037T>C c.2736T>C (p.Asp912=) n.260T>C c.4349T>C n.3734T>C c.5850T>C (p.Asp1950=) n.485-8599A>G c.3969T>C (p.Asp1323=) c.3315T>C (p.Asp1105=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40363426T>G | CA384413161 | LRRK2 | c.7053T>G (p.Asp2351Glu) c.850T>G c.*5962T>G (n.*5962T>G) c.2827T>G c.843T>G c.2498T>G (n.2498T>G) c.4140T>G c.2220T>G (n.2220T>G) c.2510T>G c.6798T>G (p.Asp2266Glu) n.3037T>G c.2736T>G (p.Asp912Glu) n.260T>G c.4349T>G n.3734T>G c.5850T>G (p.Asp1950Glu) n.485-8599A>C c.3969T>G (p.Asp1323Glu) c.3315T>G (p.Asp1105Glu) | |
| 12 | g.40363426T= | CA2031025767 | LRRK2 | c.7053T= (p.Asp2351=) c.850T= c.*5962T= (n.*5962T=) c.2827T= c.843T= c.2498T= (n.2498T=) c.4140T= c.2220T= (n.2220T=) c.2510T= c.6798T= (p.Asp2266=) n.3037T= c.2736T= (p.Asp912=) n.260T= c.4349T= n.3734T= c.5850T= (p.Asp1950=) n.485-8599A= c.3969T= (p.Asp1323=) c.3315T= (p.Asp1105=) | |
| 12 | g.40363427T>A | CA384413163 | LRRK2 | c.7054T>A (p.Ser2352Thr) c.851T>A c.*5963T>A (n.*5963T>A) c.2828T>A c.844T>A c.2499T>A (n.2499T>A) c.4141T>A c.2221T>A (n.2221T>A) c.2511T>A c.6799T>A (p.Ser2267Thr) n.3038T>A c.2737T>A (p.Ser913Thr) n.261T>A c.4350T>A n.3735T>A c.5851T>A (p.Ser1951Thr) n.485-8600A>T c.3970T>A (p.Ser1324Thr) c.3316T>A (p.Ser1106Thr) | |
| 12 | g.40363427T>C | CA384413166 | LRRK2 | c.7054T>C (p.Ser2352Pro) c.851T>C c.*5963T>C (n.*5963T>C) c.2828T>C c.844T>C c.2499T>C (n.2499T>C) c.4141T>C c.2221T>C (n.2221T>C) c.2511T>C c.6799T>C (p.Ser2267Pro) n.3038T>C c.2737T>C (p.Ser913Pro) n.261T>C c.4350T>C n.3735T>C c.5851T>C (p.Ser1951Pro) n.485-8600A>G c.3970T>C (p.Ser1324Pro) c.3316T>C (p.Ser1106Pro) | |
| 12 | g.40363427T>G | CA384413167 | LRRK2 | c.7054T>G (p.Ser2352Ala) c.851T>G c.*5963T>G (n.*5963T>G) c.2828T>G c.844T>G c.2499T>G (n.2499T>G) c.4141T>G c.2221T>G (n.2221T>G) c.2511T>G c.6799T>G (p.Ser2267Ala) n.3038T>G c.2737T>G (p.Ser913Ala) n.261T>G c.4350T>G n.3735T>G c.5851T>G (p.Ser1951Ala) n.485-8600A>C c.3970T>G (p.Ser1324Ala) c.3316T>G (p.Ser1106Ala) | |
| 12 | g.40363428C>A | CA384413174 | LRRK2 | c.7055C>A (p.Ser2352Tyr) c.852C>A c.*5964C>A (n.*5964C>A) c.2829C>A c.845C>A c.2500C>A (n.2500C>A) c.4142C>A c.2222C>A (n.2222C>A) c.2512C>A c.6800C>A (p.Ser2267Tyr) n.3039C>A c.2738C>A (p.Ser913Tyr) n.262C>A c.4351C>A n.3736C>A c.5852C>A (p.Ser1951Tyr) n.485-8601G>T c.3971C>A (p.Ser1324Tyr) c.3317C>A (p.Ser1106Tyr) | |
| 12 | g.40363428C>G | CA384413170 | LRRK2 | c.7055C>G (p.Ser2352Cys) c.852C>G c.*5964C>G (n.*5964C>G) c.2829C>G c.845C>G c.2500C>G (n.2500C>G) c.4142C>G c.2222C>G (n.2222C>G) c.2512C>G c.6800C>G (p.Ser2267Cys) n.3039C>G c.2738C>G (p.Ser913Cys) n.262C>G c.4351C>G n.3736C>G c.5852C>G (p.Ser1951Cys) n.485-8601G>C c.3971C>G (p.Ser1324Cys) c.3317C>G (p.Ser1106Cys) | |
| 12 | g.40363428C>T | CA384413172 | LRRK2 | c.7055C>T (p.Ser2352Phe) c.852C>T c.*5964C>T (n.*5964C>T) c.2829C>T c.845C>T c.2500C>T (n.2500C>T) c.4142C>T c.2222C>T (n.2222C>T) c.2512C>T c.6800C>T (p.Ser2267Phe) n.3039C>T c.2738C>T (p.Ser913Phe) n.262C>T c.4351C>T n.3736C>T c.5852C>T (p.Ser1951Phe) n.485-8601G>A c.3971C>T (p.Ser1324Phe) c.3317C>T (p.Ser1106Phe) | |
| 12 | g.40363429C>A | CA479247215 | LRRK2 | c.7056C>A (p.Ser2352=) c.853C>A c.*5965C>A (n.*5965C>A) c.2830C>A c.846C>A c.2501C>A (n.2501C>A) c.4143C>A c.2223C>A (n.2223C>A) c.2513C>A c.6801C>A (p.Ser2267=) n.3040C>A c.2739C>A (p.Ser913=) n.263C>A c.4352C>A n.3737C>A c.5853C>A (p.Ser1951=) n.485-8602G>T c.3972C>A (p.Ser1324=) c.3318C>A (p.Ser1106=) | |
| 12 | g.40363429C>G | CA479247217 | LRRK2 | c.7056C>G (p.Ser2352=) c.853C>G c.*5965C>G (n.*5965C>G) c.2830C>G c.846C>G c.2501C>G (n.2501C>G) c.4143C>G c.2223C>G (n.2223C>G) c.2513C>G c.6801C>G (p.Ser2267=) n.3040C>G c.2739C>G (p.Ser913=) n.263C>G c.4352C>G n.3737C>G c.5853C>G (p.Ser1951=) n.485-8602G>C c.3972C>G (p.Ser1324=) c.3318C>G (p.Ser1106=) | |
| 12 | g.40363429C>T | CA479247219 | LRRK2 | c.7056C>T (p.Ser2352=) c.853C>T c.*5965C>T (n.*5965C>T) c.2830C>T c.846C>T c.2501C>T (n.2501C>T) c.4143C>T c.2223C>T (n.2223C>T) c.2513C>T c.6801C>T (p.Ser2267=) n.3040C>T c.2739C>T (p.Ser913=) n.263C>T c.4352C>T n.3737C>T c.5853C>T (p.Ser1951=) n.485-8602G>A c.3972C>T (p.Ser1324=) c.3318C>T (p.Ser1106=) | |
| 12 | g.40363430A>C | CA384413176 | LRRK2 | c.7057A>C (p.Asn2353His) c.854A>C c.*5966A>C (n.*5966A>C) c.2831A>C c.847A>C c.2502A>C (n.2502A>C) c.4144A>C c.2224A>C (n.2224A>C) c.2514A>C c.6802A>C (p.Asn2268His) n.3041A>C c.2740A>C (p.Asn914His) n.264A>C c.4353A>C n.3738A>C c.5854A>C (p.Asn1952His) n.485-8603T>G c.3973A>C (p.Asn1325His) c.3319A>C (p.Asn1107His) | |
| 12 | g.40363430A>G | CA384413182 | LRRK2 | c.7057A>G (p.Asn2353Asp) c.854A>G c.*5966A>G (n.*5966A>G) c.2831A>G c.847A>G c.2502A>G (n.2502A>G) c.4144A>G c.2224A>G (n.2224A>G) c.2514A>G c.6802A>G (p.Asn2268Asp) n.3041A>G c.2740A>G (p.Asn914Asp) n.264A>G c.4353A>G n.3738A>G c.5854A>G (p.Asn1952Asp) n.485-8603T>C c.3973A>G (p.Asn1325Asp) c.3319A>G (p.Asn1107Asp) | |
| 12 | g.40363430A>T | CA384413179 | LRRK2 | c.7057A>T (p.Asn2353Tyr) c.854A>T c.*5966A>T (n.*5966A>T) c.2831A>T c.847A>T c.2502A>T (n.2502A>T) c.4144A>T c.2224A>T (n.2224A>T) c.2514A>T c.6802A>T (p.Asn2268Tyr) n.3041A>T c.2740A>T (p.Asn914Tyr) n.264A>T c.4353A>T n.3738A>T c.5854A>T (p.Asn1952Tyr) n.485-8603T>A c.3973A>T (p.Asn1325Tyr) c.3319A>T (p.Asn1107Tyr) | |
| 12 | g.40363431A>C | CA384413183 | LRRK2 | c.7058A>C (p.Asn2353Thr) c.855A>C c.*5967A>C (n.*5967A>C) c.2832A>C c.848A>C c.2503A>C (n.2503A>C) c.4145A>C c.2225A>C (n.2225A>C) c.2515A>C c.6803A>C (p.Asn2268Thr) n.3042A>C c.2741A>C (p.Asn914Thr) n.265A>C c.4354A>C n.3739A>C c.5855A>C (p.Asn1952Thr) n.485-8604T>G c.3974A>C (p.Asn1325Thr) c.3320A>C (p.Asn1107Thr) | |
| 12 | g.40363431A>G | CA384413185 | LRRK2 | c.7058A>G (p.Asn2353Ser) c.855A>G c.*5967A>G (n.*5967A>G) c.2832A>G c.848A>G c.2503A>G (n.2503A>G) c.4145A>G c.2225A>G (n.2225A>G) c.2515A>G c.6803A>G (p.Asn2268Ser) n.3042A>G c.2741A>G (p.Asn914Ser) n.265A>G c.4354A>G n.3739A>G c.5855A>G (p.Asn1952Ser) n.485-8604T>C c.3974A>G (p.Asn1325Ser) c.3320A>G (p.Asn1107Ser) | |
| 12 | g.40363431A>T | CA384413186 | LRRK2 | c.7058A>T (p.Asn2353Ile) c.855A>T c.*5967A>T (n.*5967A>T) c.2832A>T c.848A>T c.2503A>T (n.2503A>T) c.4145A>T c.2225A>T (n.2225A>T) c.2515A>T c.6803A>T (p.Asn2268Ile) n.3042A>T c.2741A>T (p.Asn914Ile) n.265A>T c.4354A>T n.3739A>T c.5855A>T (p.Asn1952Ile) n.485-8604T>A c.3974A>T (p.Asn1325Ile) c.3320A>T (p.Asn1107Ile) | |
| 12 | g.40363432C>A | CA384413188 | LRRK2 | c.7059C>A (p.Asn2353Lys) c.856C>A c.*5968C>A (n.*5968C>A) c.2833C>A c.849C>A c.2504C>A (n.2504C>A) c.4146C>A c.2226C>A (n.2226C>A) c.2516C>A c.6804C>A (p.Asn2268Lys) n.3043C>A c.2742C>A (p.Asn914Lys) n.266C>A c.4355C>A n.3740C>A c.5856C>A (p.Asn1952Lys) n.485-8605G>T c.3975C>A (p.Asn1325Lys) c.3321C>A (p.Asn1107Lys) | |
| 12 | g.40363432C= | CA2031025771 | LRRK2 | c.7059C= (p.Asn2353=) c.856C= c.*5968C= (n.*5968C=) c.2833C= c.849C= c.2504C= (n.2504C=) c.4146C= c.2226C= (n.2226C=) c.2516C= c.6804C= (p.Asn2268=) n.3043C= c.2742C= (p.Asn914=) n.266C= c.4355C= n.3740C= c.5856C= (p.Asn1952=) n.485-8605G= c.3975C= (p.Asn1325=) c.3321C= (p.Asn1107=) | |
| 12 | g.40363432C>G | CA384413191 | LRRK2 | c.7059C>G (p.Asn2353Lys) c.856C>G c.*5968C>G (n.*5968C>G) c.2833C>G c.849C>G c.2504C>G (n.2504C>G) c.4146C>G c.2226C>G (n.2226C>G) c.2516C>G c.6804C>G (p.Asn2268Lys) n.3043C>G c.2742C>G (p.Asn914Lys) n.266C>G c.4355C>G n.3740C>G c.5856C>G (p.Asn1952Lys) n.485-8605G>C c.3975C>G (p.Asn1325Lys) c.3321C>G (p.Asn1107Lys) | |
| 12 | g.40363432C>T | CA6514842 | LRRK2 | c.7059C>T (p.Asn2353=) c.856C>T c.*5968C>T (n.*5968C>T) c.2833C>T c.849C>T c.2504C>T (n.2504C>T) c.4146C>T c.2226C>T (n.2226C>T) c.2516C>T c.6804C>T (p.Asn2268=) n.3043C>T c.2742C>T (p.Asn914=) n.266C>T c.4355C>T n.3740C>T c.5856C>T (p.Asn1952=) n.485-8605G>A c.3975C>T (p.Asn1325=) c.3321C>T (p.Asn1107=) | dbSNP ExAC gnomAD v2 |
| 12 | g.40363433A= | CA2031025774 | LRRK2 | c.7060A= (p.Ile2354=) c.857A= c.*5969A= (n.*5969A=) c.2834A= c.850A= c.2505A= (n.2505A=) c.4147A= c.2227A= (n.2227A=) c.2517A= c.6805A= (p.Ile2269=) n.3044A= c.2743A= (p.Ile915=) n.267A= c.4356A= n.3741A= c.5857A= (p.Ile1953=) n.485-8606T= c.3976A= (p.Ile1326=) c.3322A= (p.Ile1108=) | |
| 12 | g.40363433A>C | CA384413196 | LRRK2 | c.7060A>C (p.Ile2354Leu) c.857A>C c.*5969A>C (n.*5969A>C) c.2834A>C c.850A>C c.2505A>C (n.2505A>C) c.4147A>C c.2227A>C (n.2227A>C) c.2517A>C c.6805A>C (p.Ile2269Leu) n.3044A>C c.2743A>C (p.Ile915Leu) n.267A>C c.4356A>C n.3741A>C c.5857A>C (p.Ile1953Leu) n.485-8606T>G c.3976A>C (p.Ile1326Leu) c.3322A>C (p.Ile1108Leu) | |
| 12 | g.40363433A>G | CA384413198 | LRRK2 | c.7060A>G (p.Ile2354Val) c.857A>G c.*5969A>G (n.*5969A>G) c.2834A>G c.850A>G c.2505A>G (n.2505A>G) c.4147A>G c.2227A>G (n.2227A>G) c.2517A>G c.6805A>G (p.Ile2269Val) n.3044A>G c.2743A>G (p.Ile915Val) n.267A>G c.4356A>G n.3741A>G c.5857A>G (p.Ile1953Val) n.485-8606T>C c.3976A>G (p.Ile1326Val) c.3322A>G (p.Ile1108Val) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.40363433A>T | CA384413200 | LRRK2 | c.7060A>T (p.Ile2354Phe) c.857A>T c.*5969A>T (n.*5969A>T) c.2834A>T c.850A>T c.2505A>T (n.2505A>T) c.4147A>T c.2227A>T (n.2227A>T) c.2517A>T c.6805A>T (p.Ile2269Phe) n.3044A>T c.2743A>T (p.Ile915Phe) n.267A>T c.4356A>T n.3741A>T c.5857A>T (p.Ile1953Phe) n.485-8606T>A c.3976A>T (p.Ile1326Phe) c.3322A>T (p.Ile1108Phe) | |
| 12 | g.40363434T>A | CA384413204 | LRRK2 | c.7061T>A (p.Ile2354Asn) c.858T>A c.*5970T>A (n.*5970T>A) c.2835T>A c.851T>A c.2506T>A (n.2506T>A) c.4148T>A c.2228T>A (n.2228T>A) c.2518T>A c.6806T>A (p.Ile2269Asn) n.3045T>A c.2744T>A (p.Ile915Asn) n.268T>A c.4357T>A n.3742T>A c.5858T>A (p.Ile1953Asn) n.485-8607A>T c.3977T>A (p.Ile1326Asn) c.3323T>A (p.Ile1108Asn) | gnomAD v4 |
| 12 | g.40363434T>C | CA384413206 | LRRK2 | c.7061T>C (p.Ile2354Thr) c.858T>C c.*5970T>C (n.*5970T>C) c.2835T>C c.851T>C c.2506T>C (n.2506T>C) c.4148T>C c.2228T>C (n.2228T>C) c.2518T>C c.6806T>C (p.Ile2269Thr) n.3045T>C c.2744T>C (p.Ile915Thr) n.268T>C c.4357T>C n.3742T>C c.5858T>C (p.Ile1953Thr) n.485-8607A>G c.3977T>C (p.Ile1326Thr) c.3323T>C (p.Ile1108Thr) | |
| 12 | g.40363434T>G | CA384413209 | LRRK2 | c.7061T>G (p.Ile2354Ser) c.858T>G c.*5970T>G (n.*5970T>G) c.2835T>G c.851T>G c.2506T>G (n.2506T>G) c.4148T>G c.2228T>G (n.2228T>G) c.2518T>G c.6806T>G (p.Ile2269Ser) n.3045T>G c.2744T>G (p.Ile915Ser) n.268T>G c.4357T>G n.3742T>G c.5858T>G (p.Ile1953Ser) n.485-8607A>C c.3977T>G (p.Ile1326Ser) c.3323T>G (p.Ile1108Ser) | |
| 12 | g.40363435C>A | CA479247239 | LRRK2 | c.7062C>A (p.Ile2354=) c.859C>A c.*5971C>A (n.*5971C>A) c.2836C>A c.852C>A c.2507C>A (n.2507C>A) c.4149C>A c.2229C>A (n.2229C>A) c.2519C>A c.6807C>A (p.Ile2269=) n.3046C>A c.2745C>A (p.Ile915=) n.269C>A c.4358C>A n.3743C>A c.5859C>A (p.Ile1953=) n.485-8608G>T c.3978C>A (p.Ile1326=) c.3324C>A (p.Ile1108=) | gnomAD v4 |
| 12 | g.40363435C= | CA2031025778 | LRRK2 | c.7062C= (p.Ile2354=) c.859C= c.*5971C= (n.*5971C=) c.2836C= c.852C= c.2507C= (n.2507C=) c.4149C= c.2229C= (n.2229C=) c.2519C= c.6807C= (p.Ile2269=) n.3046C= c.2745C= (p.Ile915=) n.269C= c.4358C= n.3743C= c.5859C= (p.Ile1953=) n.485-8608G= c.3978C= (p.Ile1326=) c.3324C= (p.Ile1108=) | |
| 12 | g.40363435C>G | CA384413214 | LRRK2 | c.7062C>G (p.Ile2354Met) c.859C>G c.*5971C>G (n.*5971C>G) c.2836C>G c.852C>G c.2507C>G (n.2507C>G) c.4149C>G c.2229C>G (n.2229C>G) c.2519C>G c.6807C>G (p.Ile2269Met) n.3046C>G c.2745C>G (p.Ile915Met) n.269C>G c.4358C>G n.3743C>G c.5859C>G (p.Ile1953Met) n.485-8608G>C c.3978C>G (p.Ile1326Met) c.3324C>G (p.Ile1108Met) | |
| 12 | g.40363435C>T | CA6514843 | LRRK2 | c.7062C>T (p.Ile2354=) c.859C>T c.*5971C>T (n.*5971C>T) c.2836C>T c.852C>T c.2507C>T (n.2507C>T) c.4149C>T c.2229C>T (n.2229C>T) c.2519C>T c.6807C>T (p.Ile2269=) n.3046C>T c.2745C>T (p.Ile915=) n.269C>T c.4358C>T n.3743C>T c.5859C>T (p.Ile1953=) n.485-8608G>A c.3978C>T (p.Ile1326=) c.3324C>T (p.Ile1108=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40363436A= | CA2031025783 | LRRK2 | c.7063A= (p.Ile2355=) c.860A= c.*5972A= (n.*5972A=) c.2837A= c.853A= c.2508A= (n.2508A=) c.4150A= c.2230A= (n.2230A=) c.2520A= c.6808A= (p.Ile2270=) n.3047A= c.2746A= (p.Ile916=) n.270A= c.4359A= n.3744A= c.5860A= (p.Ile1954=) n.485-8609T= c.3979A= (p.Ile1327=) c.3325A= (p.Ile1109=) | |
| 12 | g.40363436A>C | CA384413215 | LRRK2 | c.7063A>C (p.Ile2355Leu) c.860A>C c.*5972A>C (n.*5972A>C) c.2837A>C c.853A>C c.2508A>C (n.2508A>C) c.4150A>C c.2230A>C (n.2230A>C) c.2520A>C c.6808A>C (p.Ile2270Leu) n.3047A>C c.2746A>C (p.Ile916Leu) n.270A>C c.4359A>C n.3744A>C c.5860A>C (p.Ile1954Leu) n.485-8609T>G c.3979A>C (p.Ile1327Leu) c.3325A>C (p.Ile1109Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.40363436A>G | CA6514844 | LRRK2 | c.7063A>G (p.Ile2355Val) c.860A>G c.*5972A>G (n.*5972A>G) c.2837A>G c.853A>G c.2508A>G (n.2508A>G) c.4150A>G c.2230A>G (n.2230A>G) c.2520A>G c.6808A>G (p.Ile2270Val) n.3047A>G c.2746A>G (p.Ile916Val) n.270A>G c.4359A>G n.3744A>G c.5860A>G (p.Ile1954Val) n.485-8609T>C c.3979A>G (p.Ile1327Val) c.3325A>G (p.Ile1109Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40363436A>T | CA384413218 | LRRK2 | c.7063A>T (p.Ile2355Leu) c.860A>T c.*5972A>T (n.*5972A>T) c.2837A>T c.853A>T c.2508A>T (n.2508A>T) c.4150A>T c.2230A>T (n.2230A>T) c.2520A>T c.6808A>T (p.Ile2270Leu) n.3047A>T c.2746A>T (p.Ile916Leu) n.270A>T c.4359A>T n.3744A>T c.5860A>T (p.Ile1954Leu) n.485-8609T>A c.3979A>T (p.Ile1327Leu) c.3325A>T (p.Ile1109Leu) | |
| 12 | g.40363437T>A | CA384413222 | LRRK2 | c.7064T>A (p.Ile2355Lys) c.861T>A c.*5973T>A (n.*5973T>A) c.2838T>A c.854T>A c.2509T>A (n.2509T>A) c.4151T>A c.2231T>A (n.2231T>A) c.2521T>A c.6809T>A (p.Ile2270Lys) n.3048T>A c.2747T>A (p.Ile916Lys) n.271T>A c.4360T>A n.3745T>A c.5861T>A (p.Ile1954Lys) n.485-8610A>T c.3980T>A (p.Ile1327Lys) c.3326T>A (p.Ile1109Lys) | gnomAD v4 |
| 12 | g.40363437T>C | CA384413225 | LRRK2 | c.7064T>C (p.Ile2355Thr) c.861T>C c.*5973T>C (n.*5973T>C) c.2838T>C c.854T>C c.2509T>C (n.2509T>C) c.4151T>C c.2231T>C (n.2231T>C) c.2521T>C c.6809T>C (p.Ile2270Thr) n.3048T>C c.2747T>C (p.Ile916Thr) n.271T>C c.4360T>C n.3745T>C c.5861T>C (p.Ile1954Thr) n.485-8610A>G c.3980T>C (p.Ile1327Thr) c.3326T>C (p.Ile1109Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.40363437T>G | CA384413227 | LRRK2 | c.7064T>G (p.Ile2355Arg) c.861T>G c.*5973T>G (n.*5973T>G) c.2838T>G c.854T>G c.2509T>G (n.2509T>G) c.4151T>G c.2231T>G (n.2231T>G) c.2521T>G c.6809T>G (p.Ile2270Arg) n.3048T>G c.2747T>G (p.Ile916Arg) n.271T>G c.4360T>G n.3745T>G c.5861T>G (p.Ile1954Arg) n.485-8610A>C c.3980T>G (p.Ile1327Arg) c.3326T>G (p.Ile1109Arg) | |
| 12 | g.40363437T= | CA2031025792 | LRRK2 | c.7064T= (p.Ile2355=) c.861T= c.*5973T= (n.*5973T=) c.2838T= c.854T= c.2509T= (n.2509T=) c.4151T= c.2231T= (n.2231T=) c.2521T= c.6809T= (p.Ile2270=) n.3048T= c.2747T= (p.Ile916=) n.271T= c.4360T= n.3745T= c.5861T= (p.Ile1954=) n.485-8610A= c.3980T= (p.Ile1327=) c.3326T= (p.Ile1109=) | |
| 12 | g.40363438A= | CA2031025799 | LRRK2 | c.7065A= (p.Ile2355=) c.862A= c.*5974A= (n.*5974A=) c.2839A= c.855A= c.2510A= (n.2510A=) c.4152A= c.2232A= (n.2232A=) c.2522A= c.6810A= (p.Ile2270=) n.3049A= c.2748A= (p.Ile916=) n.272A= c.4361A= n.3746A= c.5862A= (p.Ile1954=) n.485-8611T= c.3981A= (p.Ile1327=) c.3327A= (p.Ile1109=) | |
| 12 | g.40363438A>C | CA479247250 | LRRK2 | c.7065A>C (p.Ile2355=) c.862A>C c.*5974A>C (n.*5974A>C) c.2839A>C c.855A>C c.2510A>C (n.2510A>C) c.4152A>C c.2232A>C (n.2232A>C) c.2522A>C c.6810A>C (p.Ile2270=) n.3049A>C c.2748A>C (p.Ile916=) n.272A>C c.4361A>C n.3746A>C c.5862A>C (p.Ile1954=) n.485-8611T>G c.3981A>C (p.Ile1327=) c.3327A>C (p.Ile1109=) | |
| 12 | g.40363438A>G | CA384413230 | LRRK2 | c.7065A>G (p.Ile2355Met) c.862A>G c.*5974A>G (n.*5974A>G) c.2839A>G c.855A>G c.2510A>G (n.2510A>G) c.4152A>G c.2232A>G (n.2232A>G) c.2522A>G c.6810A>G (p.Ile2270Met) n.3049A>G c.2748A>G (p.Ile916Met) n.272A>G c.4361A>G n.3746A>G c.5862A>G (p.Ile1954Met) n.485-8611T>C c.3981A>G (p.Ile1327Met) c.3327A>G (p.Ile1109Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.40363438A>T | CA479247251 | LRRK2 | c.7065A>T (p.Ile2355=) c.862A>T c.*5974A>T (n.*5974A>T) c.2839A>T c.855A>T c.2510A>T (n.2510A>T) c.4152A>T c.2232A>T (n.2232A>T) c.2522A>T c.6810A>T (p.Ile2270=) n.3049A>T c.2748A>T (p.Ile916=) n.272A>T c.4361A>T n.3746A>T c.5862A>T (p.Ile1954=) n.485-8611T>A c.3981A>T (p.Ile1327=) c.3327A>T (p.Ile1109=) | |
| 12 | g.40363438_40363440delinsAAC | CA2031025800 | LRRK2 | c.7065_7067delinsAAC (p.Ile2355=) c.862_864delinsAAC c.*5974_*5976delinsAAC (n.*5974_*5976delinsAAC) c.2839_2841delinsAAC c.855_857delinsAAC c.2510_2512delinsAAC (n.2510_2512delinsAAC) c.4152_4154delinsAAC c.2232_2234delinsAAC (n.2232_2234delinsAAC) c.2522_2524delinsAAC c.6810_6812delinsAAC (p.Ile2270=) n.3049_3051delinsAAC c.2748_2750delinsAAC (p.Ile916=) n.272_274delinsAAC c.4361_4363delinsAAC n.3746_3748delinsAAC c.5862_5864delinsAAC (p.Ile1954=) n.485-8613_485-8611delinsGTT c.3981_3983delinsAAC (p.Ile1327=) c.3327_3329delinsAAC (p.Ile1109=) | |
| 12 | g.40363439A= | CA2031025806 | LRRK2 | c.7066A= (p.Thr2356=) c.863A= c.*5975A= (n.*5975A=) c.2840A= c.856A= c.2511A= (n.2511A=) c.4153A= c.2233A= (n.2233A=) c.2523A= c.6811A= (p.Thr2271=) n.3050A= c.2749A= (p.Thr917=) n.273A= c.4362A= n.3747A= c.5863A= (p.Thr1955=) n.485-8612T= c.3982A= (p.Thr1328=) c.3328A= (p.Thr1110=) | |
| 12 | g.40363439A>C | CA384413233 | LRRK2 | c.7066A>C (p.Thr2356Pro) c.863A>C c.*5975A>C (n.*5975A>C) c.2840A>C c.856A>C c.2511A>C (n.2511A>C) c.4153A>C c.2233A>C (n.2233A>C) c.2523A>C c.6811A>C (p.Thr2271Pro) n.3050A>C c.2749A>C (p.Thr917Pro) n.273A>C c.4362A>C n.3747A>C c.5863A>C (p.Thr1955Pro) n.485-8612T>G c.3982A>C (p.Thr1328Pro) c.3328A>C (p.Thr1110Pro) | |
| 12 | g.40363439A>G | CA384413236 | LRRK2 | c.7066A>G (p.Thr2356Ala) c.863A>G c.*5975A>G (n.*5975A>G) c.2840A>G c.856A>G c.2511A>G (n.2511A>G) c.4153A>G c.2233A>G (n.2233A>G) c.2523A>G c.6811A>G (p.Thr2271Ala) n.3050A>G c.2749A>G (p.Thr917Ala) n.273A>G c.4362A>G n.3747A>G c.5863A>G (p.Thr1955Ala) n.485-8612T>C c.3982A>G (p.Thr1328Ala) c.3328A>G (p.Thr1110Ala) |