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.40299136C>A | CA479251098 | LRRK2 | c.3375C>A (p.Pro1125=) c.*2284C>A (n.*2284C>A) c.3120C>A (p.Pro1040=) c.419C>A n.56C>A c.2172C>A (p.Pro724=) c.291C>A (p.Pro97=) n.3617C>A | gnomAD v4 |
| 12 | g.40299136C>G | CA479251099 | LRRK2 | c.3375C>G (p.Pro1125=) c.*2284C>G (n.*2284C>G) c.3120C>G (p.Pro1040=) c.419C>G n.56C>G c.2172C>G (p.Pro724=) c.291C>G (p.Pro97=) n.3617C>G | ClinVar gnomAD v4 |
| 12 | g.40299136C>T | CA479251101 | LRRK2 | c.3375C>T (p.Pro1125=) c.*2284C>T (n.*2284C>T) c.3120C>T (p.Pro1040=) c.419C>T n.56C>T c.2172C>T (p.Pro724=) c.291C>T (p.Pro97=) n.3617C>T | ClinVar gnomAD v4 COSMIC COSMIC |
| 12 | g.40299137T>A | CA384415538 | LRRK2 | c.3376T>A (p.Leu1126Met) c.*2285T>A (n.*2285T>A) c.3121T>A (p.Leu1041Met) c.420T>A n.57T>A c.2173T>A (p.Leu725Met) c.292T>A (p.Leu98Met) n.3618T>A | |
| 12 | g.40299137T>C | CA479251105 | LRRK2 | c.3376T>C (p.Leu1126=) c.*2285T>C (n.*2285T>C) c.3121T>C (p.Leu1041=) c.420T>C n.57T>C c.2173T>C (p.Leu725=) c.292T>C (p.Leu98=) n.3618T>C | gnomAD v4 |
| 12 | g.40299137T>G | CA384415539 | LRRK2 | c.3376T>G (p.Leu1126Val) c.*2285T>G (n.*2285T>G) c.3121T>G (p.Leu1041Val) c.420T>G n.57T>G c.2173T>G (p.Leu725Val) c.292T>G (p.Leu98Val) n.3618T>G | |
| 12 | g.40299138T>A | CA384415541 | LRRK2 | c.3377T>A (p.Leu1126Ter) c.*2286T>A (n.*2286T>A) c.3122T>A (p.Leu1041Ter) c.421T>A n.58T>A c.2174T>A (p.Leu725Ter) c.293T>A (p.Leu98Ter) n.3619T>A | |
| 12 | g.40299138T>C | CA384415543 | LRRK2 | c.3377T>C (p.Leu1126Ser) c.*2286T>C (n.*2286T>C) c.3122T>C (p.Leu1041Ser) c.421T>C n.58T>C c.2174T>C (p.Leu725Ser) c.293T>C (p.Leu98Ser) n.3619T>C | |
| 12 | g.40299138T>G | CA384415545 | LRRK2 | c.3377T>G (p.Leu1126Trp) c.*2286T>G (n.*2286T>G) c.3122T>G (p.Leu1041Trp) c.421T>G n.58T>G c.2174T>G (p.Leu725Trp) c.293T>G (p.Leu98Trp) n.3619T>G | |
| 12 | g.40299139G>A | CA479251111 | LRRK2 | c.3378G>A (p.Leu1126=) c.*2287G>A (n.*2287G>A) c.3123G>A (p.Leu1041=) c.422G>A n.59G>A c.2175G>A (p.Leu725=) c.294G>A (p.Leu98=) n.3620G>A | COSMIC COSMIC |
| 12 | g.40299139G>C | CA384415546 | LRRK2 | c.3378G>C (p.Leu1126Phe) c.*2287G>C (n.*2287G>C) c.3123G>C (p.Leu1041Phe) c.422G>C n.59G>C c.2175G>C (p.Leu725Phe) c.294G>C (p.Leu98Phe) n.3620G>C | |
| 12 | g.40299139G>T | CA384415548 | LRRK2 | c.3378G>T (p.Leu1126Phe) c.*2287G>T (n.*2287G>T) c.3123G>T (p.Leu1041Phe) c.422G>T n.59G>T c.2175G>T (p.Leu725Phe) c.294G>T (p.Leu98Phe) n.3620G>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.40299140A>C | CA479251116 | LRRK2 | c.3379A>C (p.Arg1127=) c.*2288A>C (n.*2288A>C) c.3124A>C (p.Arg1042=) c.423A>C n.60A>C c.2176A>C (p.Arg726=) c.295A>C (p.Arg99=) n.3621A>C | |
| 12 | g.40299140A>G | CA384415551 | LRRK2 | c.3379A>G (p.Arg1127Gly) c.*2288A>G (n.*2288A>G) c.3124A>G (p.Arg1042Gly) c.423A>G n.60A>G c.2176A>G (p.Arg726Gly) c.295A>G (p.Arg99Gly) n.3621A>G | |
| 12 | g.40299140A>T | CA384415550 | LRRK2 | c.3379A>T (p.Arg1127Ter) c.*2288A>T (n.*2288A>T) c.3124A>T (p.Arg1042Ter) c.423A>T n.60A>T c.2176A>T (p.Arg726Ter) c.295A>T (p.Arg99Ter) n.3621A>T | |
| 12 | g.40299141G>A | CA384415553 | LRRK2 | c.3380G>A (p.Arg1127Lys) c.*2289G>A (n.*2289G>A) c.3125G>A (p.Arg1042Lys) c.424G>A n.61G>A c.2177G>A (p.Arg726Lys) c.296G>A (p.Arg99Lys) n.3622G>A | |
| 12 | g.40299141G>C | CA384415554 | LRRK2 | c.3380G>C (p.Arg1127Thr) c.*2289G>C (n.*2289G>C) c.3125G>C (p.Arg1042Thr) c.424G>C n.61G>C c.2177G>C (p.Arg726Thr) c.296G>C (p.Arg99Thr) n.3622G>C | |
| 12 | g.40299141G>T | CA384415555 | LRRK2 | c.3380G>T (p.Arg1127Ile) c.*2289G>T (n.*2289G>T) c.3125G>T (p.Arg1042Ile) c.424G>T n.61G>T c.2177G>T (p.Arg726Ile) c.296G>T (p.Arg99Ile) n.3622G>T | |
| 12 | g.40299142A>C | CA384415557 | LRRK2 | c.3381A>C (p.Arg1127Ser) c.*2290A>C (n.*2290A>C) c.3126A>C (p.Arg1042Ser) c.425A>C n.62A>C c.2178A>C (p.Arg726Ser) c.297A>C (p.Arg99Ser) n.3623A>C | |
| 12 | g.40299142A>G | CA479251117 | LRRK2 | c.3381A>G (p.Arg1127=) c.*2290A>G (n.*2290A>G) c.3126A>G (p.Arg1042=) c.425A>G n.62A>G c.2178A>G (p.Arg726=) c.297A>G (p.Arg99=) n.3623A>G | |
| 12 | g.40299142A>T | CA384415559 | LRRK2 | c.3381A>T (p.Arg1127Ser) c.*2290A>T (n.*2290A>T) c.3126A>T (p.Arg1042Ser) c.425A>T n.62A>T c.2178A>T (p.Arg726Ser) c.297A>T (p.Arg99Ser) n.3623A>T | |
| 12 | g.40299143C>A | CA6513891 | LRRK2 | c.3382C>A (p.Leu1128Met) c.*2291C>A (n.*2291C>A) c.3127C>A (p.Leu1043Met) c.426C>A n.63C>A c.2179C>A (p.Leu727Met) c.298C>A (p.Leu100Met) n.3624C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.40299143C= | CA2030983900 | LRRK2 | c.3382C= (p.Leu1128=) c.*2291C= (n.*2291C=) c.3127C= (p.Leu1043=) c.426C= n.63C= c.2179C= (p.Leu727=) c.298C= (p.Leu100=) n.3624C= | |
| 12 | g.40299143C>G | CA384415560 | LRRK2 | c.3382C>G (p.Leu1128Val) c.*2291C>G (n.*2291C>G) c.3127C>G (p.Leu1043Val) c.426C>G n.63C>G c.2179C>G (p.Leu727Val) c.298C>G (p.Leu100Val) n.3624C>G | |
| 12 | g.40299143C>T | CA479251119 | LRRK2 | c.3382C>T (p.Leu1128=) c.*2291C>T (n.*2291C>T) c.3127C>T (p.Leu1043=) c.426C>T n.63C>T c.2179C>T (p.Leu727=) c.298C>T (p.Leu100=) n.3624C>T | gnomAD v4 |
| 12 | g.40299144T>A | CA384415564 | LRRK2 | c.3383T>A (p.Leu1128Gln) c.*2292T>A (n.*2292T>A) c.3128T>A (p.Leu1043Gln) c.427T>A n.64T>A c.2180T>A (p.Leu727Gln) c.299T>A (p.Leu100Gln) n.3625T>A | |
| 12 | g.40299144T>C | CA384415566 | LRRK2 | c.3383T>C (p.Leu1128Pro) c.*2292T>C (n.*2292T>C) c.3128T>C (p.Leu1043Pro) c.427T>C n.64T>C c.2180T>C (p.Leu727Pro) c.299T>C (p.Leu100Pro) n.3625T>C | |
| 12 | g.40299144T>G | CA384415567 | LRRK2 | c.3383T>G (p.Leu1128Arg) c.*2292T>G (n.*2292T>G) c.3128T>G (p.Leu1043Arg) c.427T>G n.64T>G c.2180T>G (p.Leu727Arg) c.299T>G (p.Leu100Arg) n.3625T>G | |
| 12 | g.40299145G>A | CA479251124 | LRRK2 | c.3384G>A (p.Leu1128=) c.*2293G>A (n.*2293G>A) c.3129G>A (p.Leu1043=) c.428G>A n.65G>A c.2181G>A (p.Leu727=) c.300G>A (p.Leu100=) n.3626G>A | |
| 12 | g.40299145G>C | CA479251126 | LRRK2 | c.3384G>C (p.Leu1128=) c.*2293G>C (n.*2293G>C) c.3129G>C (p.Leu1043=) c.428G>C n.65G>C c.2181G>C (p.Leu727=) c.300G>C (p.Leu100=) n.3626G>C | |
| 12 | g.40299145G>T | CA479251127 | LRRK2 | c.3384G>T (p.Leu1128=) c.*2293G>T (n.*2293G>T) c.3129G>T (p.Leu1043=) c.428G>T n.65G>T c.2181G>T (p.Leu727=) c.300G>T (p.Leu100=) n.3626G>T | |
| 12 | g.40299146A>C | CA384415568 | LRRK2 | c.3385A>C (p.Lys1129Gln) c.*2294A>C (n.*2294A>C) c.3130A>C (p.Lys1044Gln) c.429A>C n.66A>C c.2182A>C (p.Lys728Gln) c.301A>C (p.Lys101Gln) n.3627A>C | |
| 12 | g.40299146A>G | CA384415570 | LRRK2 | c.3385A>G (p.Lys1129Glu) c.*2294A>G (n.*2294A>G) c.3130A>G (p.Lys1044Glu) c.429A>G n.66A>G c.2182A>G (p.Lys728Glu) c.301A>G (p.Lys101Glu) n.3627A>G | |
| 12 | g.40299146A>T | CA384415571 | LRRK2 | c.3385A>T (p.Lys1129Ter) c.*2294A>T (n.*2294A>T) c.3130A>T (p.Lys1044Ter) c.429A>T n.66A>T c.2182A>T (p.Lys728Ter) c.301A>T (p.Lys101Ter) n.3627A>T | |
| 12 | g.40299147A>C | CA384415575 | LRRK2 | c.3386A>C (p.Lys1129Thr) c.*2295A>C (n.*2295A>C) c.3131A>C (p.Lys1044Thr) c.430A>C n.67A>C c.2183A>C (p.Lys728Thr) c.302A>C (p.Lys101Thr) n.3628A>C | |
| 12 | g.40299147A>G | CA384415577 | LRRK2 | c.3386A>G (p.Lys1129Arg) c.*2295A>G (n.*2295A>G) c.3131A>G (p.Lys1044Arg) c.430A>G n.67A>G c.2183A>G (p.Lys728Arg) c.302A>G (p.Lys101Arg) n.3628A>G | |
| 12 | g.40299147A>T | CA384415573 | LRRK2 | c.3386A>T (p.Lys1129Met) c.*2295A>T (n.*2295A>T) c.3131A>T (p.Lys1044Met) c.430A>T n.67A>T c.2183A>T (p.Lys728Met) c.302A>T (p.Lys101Met) n.3628A>T | |
| 12 | g.40299148G>A | CA479251137 | LRRK2 | c.3387G>A (p.Lys1129=) c.*2296G>A (n.*2296G>A) c.3132G>A (p.Lys1044=) c.431G>A n.68G>A c.2184G>A (p.Lys728=) c.303G>A (p.Lys101=) n.3629G>A | |
| 12 | g.40299148G>C | CA384415578 | LRRK2 | c.3387G>C (p.Lys1129Asn) c.*2296G>C (n.*2296G>C) c.3132G>C (p.Lys1044Asn) c.431G>C n.68G>C c.2184G>C (p.Lys728Asn) c.303G>C (p.Lys101Asn) n.3629G>C | |
| 12 | g.40299148G>T | CA384415579 | LRRK2 | c.3387G>T (p.Lys1129Asn) c.*2296G>T (n.*2296G>T) c.3132G>T (p.Lys1044Asn) c.431G>T n.68G>T c.2184G>T (p.Lys728Asn) c.303G>T (p.Lys101Asn) n.3629G>T | |
| 12 | g.40299149G>A | CA384415585 | LRRK2 | c.3388G>A (p.Glu1130Lys) c.*2297G>A (n.*2297G>A) c.3133G>A (p.Glu1045Lys) c.432G>A n.69G>A c.2185G>A (p.Glu729Lys) c.304G>A (p.Glu102Lys) n.3630G>A | |
| 12 | g.40299149G>C | CA384415586 | LRRK2 | c.3388G>C (p.Glu1130Gln) c.*2297G>C (n.*2297G>C) c.3133G>C (p.Glu1045Gln) c.432G>C n.69G>C c.2185G>C (p.Glu729Gln) c.304G>C (p.Glu102Gln) n.3630G>C | |
| 12 | g.40299149G= | CA2030983906 | LRRK2 | c.3388G= (p.Glu1130=) c.*2297G= (n.*2297G=) c.3133G= (p.Glu1045=) c.432G= n.69G= c.2185G= (p.Glu729=) c.304G= (p.Glu102=) n.3630G= | |
| 12 | g.40299149G>T | CA384415590 | LRRK2 | c.3388G>T (p.Glu1130Ter) c.*2297G>T (n.*2297G>T) c.3133G>T (p.Glu1045Ter) c.432G>T n.69G>T c.2185G>T (p.Glu729Ter) c.304G>T (p.Glu102Ter) n.3630G>T | dbSNP gnomAD v4 |
| 12 | g.40299150A= | CA2030983911 | LRRK2 | c.3389A= (p.Glu1130=) c.*2298A= (n.*2298A=) c.3134A= (p.Glu1045=) c.433A= n.70A= c.2186A= (p.Glu729=) c.305A= (p.Glu102=) n.3631A= | |
| 12 | g.40299150A>C | CA384415593 | LRRK2 | c.3389A>C (p.Glu1130Ala) c.*2298A>C (n.*2298A>C) c.3134A>C (p.Glu1045Ala) c.433A>C n.70A>C c.2186A>C (p.Glu729Ala) c.305A>C (p.Glu102Ala) n.3631A>C | dbSNP |
| 12 | g.40299150A>G | CA384415595 | LRRK2 | c.3389A>G (p.Glu1130Gly) c.*2298A>G (n.*2298A>G) c.3134A>G (p.Glu1045Gly) c.433A>G n.70A>G c.2186A>G (p.Glu729Gly) c.305A>G (p.Glu102Gly) n.3631A>G | |
| 12 | g.40299150A>T | CA384415596 | LRRK2 | c.3389A>T (p.Glu1130Val) c.*2298A>T (n.*2298A>T) c.3134A>T (p.Glu1045Val) c.433A>T n.70A>T c.2186A>T (p.Glu729Val) c.305A>T (p.Glu102Val) n.3631A>T | ClinVar |
| 12 | g.40299151A>C | CA384415597 | LRRK2 | c.3390A>C (p.Glu1130Asp) c.*2299A>C (n.*2299A>C) c.3135A>C (p.Glu1045Asp) c.434A>C n.71A>C c.2187A>C (p.Glu729Asp) c.306A>C (p.Glu102Asp) n.3632A>C | |
| 12 | g.40299151A>G | CA479251151 | LRRK2 | c.3390A>G (p.Glu1130=) c.*2299A>G (n.*2299A>G) c.3135A>G (p.Glu1045=) c.434A>G n.71A>G c.2187A>G (p.Glu729=) c.306A>G (p.Glu102=) n.3632A>G | ClinVar gnomAD v4 |