| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.40363532A>C | CA384413564 | LRRK2 | c.7159A>C (p.Ile2387Leu) c.956A>C c.*6068A>C (n.*6068A>C) c.2933A>C c.949A>C c.2604A>C (n.2604A>C) c.4246A>C c.2326A>C (n.2326A>C) c.2616A>C c.6904A>C (p.Ile2302Leu) n.3143A>C c.2842A>C (p.Ile948Leu) n.366A>C c.4455A>C n.3840A>C c.5956A>C (p.Ile1986Leu) n.485-8705T>G c.4075A>C (p.Ile1359Leu) c.3421A>C (p.Ile1141Leu) | |
| 12 | g.40363532A>G | CA384413565 | LRRK2 | c.7159A>G (p.Ile2387Val) c.956A>G c.*6068A>G (n.*6068A>G) c.2933A>G c.949A>G c.2604A>G (n.2604A>G) c.4246A>G c.2326A>G (n.2326A>G) c.2616A>G c.6904A>G (p.Ile2302Val) n.3143A>G c.2842A>G (p.Ile948Val) n.366A>G c.4455A>G n.3840A>G c.5956A>G (p.Ile1986Val) n.485-8705T>C c.4075A>G (p.Ile1359Val) c.3421A>G (p.Ile1141Val) | |
| 12 | g.40363532A>T | CA384413567 | LRRK2 | c.7159A>T (p.Ile2387Leu) c.956A>T c.*6068A>T (n.*6068A>T) c.2933A>T c.949A>T c.2604A>T (n.2604A>T) c.4246A>T c.2326A>T (n.2326A>T) c.2616A>T c.6904A>T (p.Ile2302Leu) n.3143A>T c.2842A>T (p.Ile948Leu) n.366A>T c.4455A>T n.3840A>T c.5956A>T (p.Ile1986Leu) n.485-8705T>A c.4075A>T (p.Ile1359Leu) c.3421A>T (p.Ile1141Leu) | |
| 12 | g.40363533T>A | CA384413569 | LRRK2 | c.7160T>A (p.Ile2387Lys) c.957T>A c.*6069T>A (n.*6069T>A) c.2934T>A c.950T>A c.2605T>A (n.2605T>A) c.4247T>A c.2327T>A (n.2327T>A) c.2617T>A c.6905T>A (p.Ile2302Lys) n.3144T>A c.2843T>A (p.Ile948Lys) n.367T>A c.4456T>A n.3841T>A c.5957T>A (p.Ile1986Lys) n.485-8706A>T c.4076T>A (p.Ile1359Lys) c.3422T>A (p.Ile1141Lys) | |
| 12 | g.40363533T>C | CA6514854 | LRRK2 | c.7160T>C (p.Ile2387Thr) c.957T>C c.*6069T>C (n.*6069T>C) c.2934T>C c.950T>C c.2605T>C (n.2605T>C) c.4247T>C c.2327T>C (n.2327T>C) c.2617T>C c.6905T>C (p.Ile2302Thr) n.3144T>C c.2843T>C (p.Ile948Thr) n.367T>C c.4456T>C n.3841T>C c.5957T>C (p.Ile1986Thr) n.485-8706A>G c.4076T>C (p.Ile1359Thr) c.3422T>C (p.Ile1141Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.40363533T>G | CA384413570 | LRRK2 | c.7160T>G (p.Ile2387Arg) c.957T>G c.*6069T>G (n.*6069T>G) c.2934T>G c.950T>G c.2605T>G (n.2605T>G) c.4247T>G c.2327T>G (n.2327T>G) c.2617T>G c.6905T>G (p.Ile2302Arg) n.3144T>G c.2843T>G (p.Ile948Arg) n.367T>G c.4456T>G n.3841T>G c.5957T>G (p.Ile1986Arg) n.485-8706A>C c.4076T>G (p.Ile1359Arg) c.3422T>G (p.Ile1141Arg) | |
| 12 | g.40363533T= | CA2031026062 | LRRK2 | c.7160T= (p.Ile2387=) c.957T= c.*6069T= (n.*6069T=) c.2934T= c.950T= c.2605T= (n.2605T=) c.4247T= c.2327T= (n.2327T=) c.2617T= c.6905T= (p.Ile2302=) n.3144T= c.2843T= (p.Ile948=) n.367T= c.4456T= n.3841T= c.5957T= (p.Ile1986=) n.485-8706A= c.4076T= (p.Ile1359=) c.3422T= (p.Ile1141=) | |
| 12 | g.40363534A>C | CA479247606 | LRRK2 | c.7161A>C (p.Ile2387=) c.958A>C c.*6070A>C (n.*6070A>C) c.2935A>C c.951A>C c.2606A>C (n.2606A>C) c.4248A>C c.2328A>C (n.2328A>C) c.2618A>C c.6906A>C (p.Ile2302=) n.3145A>C c.2844A>C (p.Ile948=) n.368A>C c.4457A>C n.3842A>C c.5958A>C (p.Ile1986=) n.485-8707T>G c.4077A>C (p.Ile1359=) c.3423A>C (p.Ile1141=) | |
| 12 | g.40363534A>G | CA384413571 | LRRK2 | c.7161A>G (p.Ile2387Met) c.958A>G c.*6070A>G (n.*6070A>G) c.2935A>G c.951A>G c.2606A>G (n.2606A>G) c.4248A>G c.2328A>G (n.2328A>G) c.2618A>G c.6906A>G (p.Ile2302Met) n.3145A>G c.2844A>G (p.Ile948Met) n.368A>G c.4457A>G n.3842A>G c.5958A>G (p.Ile1986Met) n.485-8707T>C c.4077A>G (p.Ile1359Met) c.3423A>G (p.Ile1141Met) | |
| 12 | g.40363534A>T | CA479247607 | LRRK2 | c.7161A>T (p.Ile2387=) c.958A>T c.*6070A>T (n.*6070A>T) c.2935A>T c.951A>T c.2606A>T (n.2606A>T) c.4248A>T c.2328A>T (n.2328A>T) c.2618A>T c.6906A>T (p.Ile2302=) n.3145A>T c.2844A>T (p.Ile948=) n.368A>T c.4457A>T n.3842A>T c.5958A>T (p.Ile1986=) n.485-8707T>A c.4077A>T (p.Ile1359=) c.3423A>T (p.Ile1141=) | |
| 12 | g.40363535G>A | CA384413573 | LRRK2 | c.7162G>A (p.Asp2388Asn) c.959G>A c.*6071G>A (n.*6071G>A) c.2936G>A c.952G>A c.2607G>A (n.2607G>A) c.4249G>A c.2329G>A (n.2329G>A) c.2619G>A c.6907G>A (p.Asp2303Asn) n.3146G>A c.2845G>A (p.Asp949Asn) n.369G>A c.4458G>A n.3843G>A c.5959G>A (p.Asp1987Asn) n.485-8708C>T c.4078G>A (p.Asp1360Asn) c.3424G>A (p.Asp1142Asn) | |
| 12 | g.40363535G>C | CA384413575 | LRRK2 | c.7162G>C (p.Asp2388His) c.959G>C c.*6071G>C (n.*6071G>C) c.2936G>C c.952G>C c.2607G>C (n.2607G>C) c.4249G>C c.2329G>C (n.2329G>C) c.2619G>C c.6907G>C (p.Asp2303His) n.3146G>C c.2845G>C (p.Asp949His) n.369G>C c.4458G>C n.3843G>C c.5959G>C (p.Asp1987His) n.485-8708C>G c.4078G>C (p.Asp1360His) c.3424G>C (p.Asp1142His) | |
| 12 | g.40363535G>T | CA384413577 | LRRK2 | c.7162G>T (p.Asp2388Tyr) c.959G>T c.*6071G>T (n.*6071G>T) c.2936G>T c.952G>T c.2607G>T (n.2607G>T) c.4249G>T c.2329G>T (n.2329G>T) c.2619G>T c.6907G>T (p.Asp2303Tyr) n.3146G>T c.2845G>T (p.Asp949Tyr) n.369G>T c.4458G>T n.3843G>T c.5959G>T (p.Asp1987Tyr) n.485-8708C>A c.4078G>T (p.Asp1360Tyr) c.3424G>T (p.Asp1142Tyr) | |
| 12 | g.40363536A>C | CA384413579 | LRRK2 | c.7163A>C (p.Asp2388Ala) c.960A>C c.*6072A>C (n.*6072A>C) c.2937A>C c.953A>C c.2608A>C (n.2608A>C) c.4250A>C c.2330A>C (n.2330A>C) c.2620A>C c.6908A>C (p.Asp2303Ala) n.3147A>C c.2846A>C (p.Asp949Ala) n.370A>C c.4459A>C n.3844A>C c.5960A>C (p.Asp1987Ala) n.485-8709T>G c.4079A>C (p.Asp1360Ala) c.3425A>C (p.Asp1142Ala) | |
| 12 | g.40363536A>G | CA384413582 | LRRK2 | c.7163A>G (p.Asp2388Gly) c.960A>G c.*6072A>G (n.*6072A>G) c.2937A>G c.953A>G c.2608A>G (n.2608A>G) c.4250A>G c.2330A>G (n.2330A>G) c.2620A>G c.6908A>G (p.Asp2303Gly) n.3147A>G c.2846A>G (p.Asp949Gly) n.370A>G c.4459A>G n.3844A>G c.5960A>G (p.Asp1987Gly) n.485-8709T>C c.4079A>G (p.Asp1360Gly) c.3425A>G (p.Asp1142Gly) | |
| 12 | g.40363536A>T | CA384413580 | LRRK2 | c.7163A>T (p.Asp2388Val) c.960A>T c.*6072A>T (n.*6072A>T) c.2937A>T c.953A>T c.2608A>T (n.2608A>T) c.4250A>T c.2330A>T (n.2330A>T) c.2620A>T c.6908A>T (p.Asp2303Val) n.3147A>T c.2846A>T (p.Asp949Val) n.370A>T c.4459A>T n.3844A>T c.5960A>T (p.Asp1987Val) n.485-8709T>A c.4079A>T (p.Asp1360Val) c.3425A>T (p.Asp1142Val) | |
| 12 | g.40363537C>A | CA384413584 | LRRK2 | c.7164C>A (p.Asp2388Glu) c.961C>A c.*6073C>A (n.*6073C>A) c.2938C>A c.954C>A c.2609C>A (n.2609C>A) c.4251C>A c.2331C>A (n.2331C>A) c.2621C>A c.6909C>A (p.Asp2303Glu) n.3148C>A c.2847C>A (p.Asp949Glu) n.371C>A c.4460C>A n.3845C>A c.5961C>A (p.Asp1987Glu) n.485-8710G>T c.4080C>A (p.Asp1360Glu) c.3426C>A (p.Asp1142Glu) | |
| 12 | g.40363537C>G | CA384413585 | LRRK2 | c.7164C>G (p.Asp2388Glu) c.961C>G c.*6073C>G (n.*6073C>G) c.2938C>G c.954C>G c.2609C>G (n.2609C>G) c.4251C>G c.2331C>G (n.2331C>G) c.2621C>G c.6909C>G (p.Asp2303Glu) n.3148C>G c.2847C>G (p.Asp949Glu) n.371C>G c.4460C>G n.3845C>G c.5961C>G (p.Asp1987Glu) n.485-8710G>C c.4080C>G (p.Asp1360Glu) c.3426C>G (p.Asp1142Glu) | ClinVar |
| 12 | g.40363537C>T | CA479247619 | LRRK2 | c.7164C>T (p.Asp2388=) c.961C>T c.*6073C>T (n.*6073C>T) c.2938C>T c.954C>T c.2609C>T (n.2609C>T) c.4251C>T c.2331C>T (n.2331C>T) c.2621C>T c.6909C>T (p.Asp2303=) n.3148C>T c.2847C>T (p.Asp949=) n.371C>T c.4460C>T n.3845C>T c.5961C>T (p.Asp1987=) n.485-8710G>A c.4080C>T (p.Asp1360=) c.3426C>T (p.Asp1142=) | ClinVar |
| 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.40363538T>A | CA384413586 | LRRK2 | c.7165T>A (p.Cys2389Ser) c.962T>A c.*6074T>A (n.*6074T>A) c.2939T>A c.955T>A c.2610T>A (n.2610T>A) c.4252T>A c.2332T>A (n.2332T>A) c.2622T>A c.6910T>A (p.Cys2304Ser) n.3149T>A c.2848T>A (p.Cys950Ser) n.372T>A c.4461T>A n.3846T>A c.5962T>A (p.Cys1988Ser) n.485-8711A>T c.4081T>A (p.Cys1361Ser) c.3427T>A (p.Cys1143Ser) | gnomAD v4 |
| 12 | g.40363538T>C | CA384413588 | LRRK2 | c.7165T>C (p.Cys2389Arg) c.962T>C c.*6074T>C (n.*6074T>C) c.2939T>C c.955T>C c.2610T>C (n.2610T>C) c.4252T>C c.2332T>C (n.2332T>C) c.2622T>C c.6910T>C (p.Cys2304Arg) n.3149T>C c.2848T>C (p.Cys950Arg) n.372T>C c.4461T>C n.3846T>C c.5962T>C (p.Cys1988Arg) n.485-8711A>G c.4081T>C (p.Cys1361Arg) c.3427T>C (p.Cys1143Arg) | |
| 12 | g.40363538T>G | CA384413589 | LRRK2 | c.7165T>G (p.Cys2389Gly) c.962T>G c.*6074T>G (n.*6074T>G) c.2939T>G c.955T>G c.2610T>G (n.2610T>G) c.4252T>G c.2332T>G (n.2332T>G) c.2622T>G c.6910T>G (p.Cys2304Gly) n.3149T>G c.2848T>G (p.Cys950Gly) n.372T>G c.4461T>G n.3846T>G c.5962T>G (p.Cys1988Gly) n.485-8711A>C c.4081T>G (p.Cys1361Gly) c.3427T>G (p.Cys1143Gly) | |
| 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.40363539G>A | CA384413591 | LRRK2 | c.7166G>A (p.Cys2389Tyr) c.963G>A c.*6075G>A (n.*6075G>A) c.2940G>A c.956G>A c.2611G>A (n.2611G>A) c.4253G>A c.2333G>A (n.2333G>A) c.2623G>A c.6911G>A (p.Cys2304Tyr) n.3150G>A c.2849G>A (p.Cys950Tyr) n.373G>A c.4462G>A n.3847G>A c.5963G>A (p.Cys1988Tyr) n.485-8712C>T c.4082G>A (p.Cys1361Tyr) c.3428G>A (p.Cys1143Tyr) | gnomAD v4 |
| 12 | g.40363539G>C | CA384413595 | LRRK2 | c.7166G>C (p.Cys2389Ser) c.963G>C c.*6075G>C (n.*6075G>C) c.2940G>C c.956G>C c.2611G>C (n.2611G>C) c.4253G>C c.2333G>C (n.2333G>C) c.2623G>C c.6911G>C (p.Cys2304Ser) n.3150G>C c.2849G>C (p.Cys950Ser) n.373G>C c.4462G>C n.3847G>C c.5963G>C (p.Cys1988Ser) n.485-8712C>G c.4082G>C (p.Cys1361Ser) c.3428G>C (p.Cys1143Ser) | |
| 12 | g.40363539G>T | CA384413597 | LRRK2 | c.7166G>T (p.Cys2389Phe) c.963G>T c.*6075G>T (n.*6075G>T) c.2940G>T c.956G>T c.2611G>T (n.2611G>T) c.4253G>T c.2333G>T (n.2333G>T) c.2623G>T c.6911G>T (p.Cys2304Phe) n.3150G>T c.2849G>T (p.Cys950Phe) n.373G>T c.4462G>T n.3847G>T c.5963G>T (p.Cys1988Phe) n.485-8712C>A c.4082G>T (p.Cys1361Phe) c.3428G>T (p.Cys1143Phe) | |
| 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) |