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 |
|---|---|---|---|---|---|
| 10 | g.43124899C>A | CA376558054 | RET | c.2560C>A (p.Gln854Lys) n.2530C>A c.2956C>A (p.Gln986Lys) c.*1550C>A (n.*1550C>A) c.*305C>A (n.*305C>A) c.2194C>A (p.Gln732Lys) | |
| 10 | g.43124899C>G | CA376558055 | RET | c.2560C>G (p.Gln854Glu) n.2530C>G c.2956C>G (p.Gln986Glu) c.*1550C>G (n.*1550C>G) c.*305C>G (n.*305C>G) c.2194C>G (p.Gln732Glu) | |
| 10 | g.43124899C>T | CA376558056 | RET | c.2560C>T (p.Gln854Ter) n.2530C>T c.2956C>T (p.Gln986Ter) c.*1550C>T (n.*1550C>T) c.*305C>T (n.*305C>T) c.2194C>T (p.Gln732Ter) | |
| 10 | g.43124900A>C | CA376558057 | RET | c.2561A>C (p.Gln854Pro) n.2531A>C c.2957A>C (p.Gln986Pro) c.*1551A>C (n.*1551A>C) c.*306A>C (n.*306A>C) c.2195A>C (p.Gln732Pro) | |
| 10 | g.43124900A>G | CA376558058 | RET | c.2561A>G (p.Gln854Arg) n.2531A>G c.2957A>G (p.Gln986Arg) c.*1551A>G (n.*1551A>G) c.*306A>G (n.*306A>G) c.2195A>G (p.Gln732Arg) | |
| 10 | g.43124900A>T | CA376558059 | RET | c.2561A>T (p.Gln854Leu) n.2531A>T c.2957A>T (p.Gln986Leu) c.*1551A>T (n.*1551A>T) c.*306A>T (n.*306A>T) c.2195A>T (p.Gln732Leu) | |
| 10 | g.43124901A>C | CA376558060 | RET | c.2562A>C (p.Gln854His) n.2532A>C c.2958A>C (p.Gln986His) c.*1552A>C (n.*1552A>C) c.*307A>C (n.*307A>C) c.2196A>C (p.Gln732His) | |
| 10 | g.43124901A>G | CA469031393 | RET | c.2562A>G (p.Gln854=) n.2532A>G c.2958A>G (p.Gln986=) c.*1552A>G (n.*1552A>G) c.*307A>G (n.*307A>G) c.2196A>G (p.Gln732=) | ClinVar dbSNP |
| 10 | g.43124901A>T | CA376558061 | RET | c.2562A>T (p.Gln854His) n.2532A>T c.2958A>T (p.Gln986His) c.*1552A>T (n.*1552A>T) c.*307A>T (n.*307A>T) c.2196A>T (p.Gln732His) | |
| 10 | g.43124902T>A | CA376558064 | RET | c.2563T>A (p.Cys855Ser) n.2533T>A c.2959T>A (p.Cys987Ser) c.*1553T>A (n.*1553T>A) c.*308T>A (n.*308T>A) c.2197T>A (p.Cys733Ser) | |
| 10 | g.43124902T>C | CA376558063 | RET | c.2563T>C (p.Cys855Arg) n.2533T>C c.2959T>C (p.Cys987Arg) c.*1553T>C (n.*1553T>C) c.*308T>C (n.*308T>C) c.2197T>C (p.Cys733Arg) | |
| 10 | g.43124902T>G | CA376558062 | RET | c.2563T>G (p.Cys855Gly) n.2533T>G c.2959T>G (p.Cys987Gly) c.*1553T>G (n.*1553T>G) c.*308T>G (n.*308T>G) c.2197T>G (p.Cys733Gly) | |
| 10 | g.43124903G>A | CA376558065 | RET | c.2564G>A (p.Cys855Tyr) n.2534G>A c.2960G>A (p.Cys987Tyr) c.*1554G>A (n.*1554G>A) c.*309G>A (n.*309G>A) c.2198G>A (p.Cys733Tyr) | dbSNP |
| 10 | g.43124903G>C | CA376558066 | RET | c.2564G>C (p.Cys855Ser) n.2534G>C c.2960G>C (p.Cys987Ser) c.*1554G>C (n.*1554G>C) c.*309G>C (n.*309G>C) c.2198G>C (p.Cys733Ser) | |
| 10 | g.43124903G>T | CA376558067 | RET | c.2564G>T (p.Cys855Phe) n.2534G>T c.2960G>T (p.Cys987Phe) c.*1554G>T (n.*1554G>T) c.*309G>T (n.*309G>T) c.2198G>T (p.Cys733Phe) | |
| 10 | g.43124904C>A | CA376558068 | RET | c.2565C>A (p.Cys855Ter) n.2535C>A c.2961C>A (p.Cys987Ter) c.*1555C>A (n.*1555C>A) c.*310C>A (n.*310C>A) c.2199C>A (p.Cys733Ter) | |
| 10 | g.43124904C>G | CA376558069 | RET | c.2565C>G (p.Cys855Trp) n.2535C>G c.2961C>G (p.Cys987Trp) c.*1555C>G (n.*1555C>G) c.*310C>G (n.*310C>G) c.2199C>G (p.Cys733Trp) | |
| 10 | g.43124904C>T | CA469031401 | RET | c.2565C>T (p.Cys855=) n.2535C>T c.2961C>T (p.Cys987=) c.*1555C>T (n.*1555C>T) c.*310C>T (n.*310C>T) c.2199C>T (p.Cys733=) | ClinVar gnomAD v4 |
| 10 | g.43124905T>A | CA376558070 | RET | c.2566T>A (p.Trp856Arg) n.2536T>A c.2962T>A (p.Trp988Arg) c.*1556T>A (n.*1556T>A) c.*311T>A (n.*311T>A) c.2200T>A (p.Trp734Arg) | |
| 10 | g.43124905T>C | CA376558071 | RET | c.2566T>C (p.Trp856Arg) n.2536T>C c.2962T>C (p.Trp988Arg) c.*1556T>C (n.*1556T>C) c.*311T>C (n.*311T>C) c.2200T>C (p.Trp734Arg) | |
| 10 | g.43124905T>G | CA376558072 | RET | c.2566T>G (p.Trp856Gly) n.2536T>G c.2962T>G (p.Trp988Gly) c.*1556T>G (n.*1556T>G) c.*311T>G (n.*311T>G) c.2200T>G (p.Trp734Gly) | |
| 10 | g.43124906G>A | CA376558073 | RET | c.2567G>A (p.Trp856Ter) n.2537G>A c.2963G>A (p.Trp988Ter) c.*1557G>A (n.*1557G>A) c.*312G>A (n.*312G>A) c.2201G>A (p.Trp734Ter) | |
| 10 | g.43124906G>C | CA376558074 | RET | c.2567G>C (p.Trp856Ser) n.2537G>C c.2963G>C (p.Trp988Ser) c.*1557G>C (n.*1557G>C) c.*312G>C (n.*312G>C) c.2201G>C (p.Trp734Ser) | |
| 10 | g.43124906G>T | CA376558075 | RET | c.2567G>T (p.Trp856Leu) n.2537G>T c.2963G>T (p.Trp988Leu) c.*1557G>T (n.*1557G>T) c.*312G>T (n.*312G>T) c.2201G>T (p.Trp734Leu) | |
| 10 | g.43124907G>A | CA376558076 | RET | c.2568G>A (p.Trp856Ter) n.2538G>A c.2964G>A (p.Trp988Ter) c.*1558G>A (n.*1558G>A) c.*313G>A (n.*313G>A) c.2202G>A (p.Trp734Ter) | |
| 10 | g.43124907G>C | CA376558077 | RET | c.2568G>C (p.Trp856Cys) n.2538G>C c.2964G>C (p.Trp988Cys) c.*1558G>C (n.*1558G>C) c.*313G>C (n.*313G>C) c.2202G>C (p.Trp734Cys) | |
| 10 | g.43124907G>T | CA376558078 | RET | c.2568G>T (p.Trp856Cys) n.2538G>T c.2964G>T (p.Trp988Cys) c.*1558G>T (n.*1558G>T) c.*313G>T (n.*313G>T) c.2202G>T (p.Trp734Cys) | |
| 10 | g.43124908A= | CA1905826346 | RET | c.2569A= (p.Lys857=) n.2539A= c.2965A= (p.Lys989=) c.*1559A= (n.*1559A=) c.*314A= (n.*314A=) c.2203A= (p.Lys735=) | |
| 10 | g.43124908A>C | CA376558080 | RET | c.2569A>C (p.Lys857Gln) n.2539A>C c.2965A>C (p.Lys989Gln) c.*1559A>C (n.*1559A>C) c.*314A>C (n.*314A>C) c.2203A>C (p.Lys735Gln) | |
| 10 | g.43124908A>G | CA376558081 | RET | c.2569A>G (p.Lys857Glu) n.2539A>G c.2965A>G (p.Lys989Glu) c.*1559A>G (n.*1559A>G) c.*314A>G (n.*314A>G) c.2203A>G (p.Lys735Glu) | ClinVar dbSNP |
| 10 | g.43124908A>T | CA376558079 | RET | c.2569A>T (p.Lys857Ter) n.2539A>T c.2965A>T (p.Lys989Ter) c.*1559A>T (n.*1559A>T) c.*314A>T (n.*314A>T) c.2203A>T (p.Lys735Ter) | |
| 10 | g.43124909A= | CA1905826349 | RET | c.2570A= (p.Lys857=) n.2540A= c.2966A= (p.Lys989=) c.*1560A= (n.*1560A=) c.*315A= (n.*315A=) c.2204A= (p.Lys735=) | |
| 10 | g.43124909A>C | CA376558082 | RET | c.2570A>C (p.Lys857Thr) n.2540A>C c.2966A>C (p.Lys989Thr) c.*1560A>C (n.*1560A>C) c.*315A>C (n.*315A>C) c.2204A>C (p.Lys735Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.43124909A>G | CA376558083 | RET | c.2570A>G (p.Lys857Arg) n.2540A>G c.2966A>G (p.Lys989Arg) c.*1560A>G (n.*1560A>G) c.*315A>G (n.*315A>G) c.2204A>G (p.Lys735Arg) | |
| 10 | g.43124909A>T | CA376558084 | RET | c.2570A>T (p.Lys857Met) n.2540A>T c.2966A>T (p.Lys989Met) c.*1560A>T (n.*1560A>T) c.*315A>T (n.*315A>T) c.2204A>T (p.Lys735Met) | |
| 10 | g.43124910G>A | CA469031415 | RET | c.2571G>A (p.Lys857=) n.2541G>A c.2967G>A (p.Lys989=) c.*1561G>A (n.*1561G>A) c.*316G>A (n.*316G>A) c.2205G>A (p.Lys735=) | |
| 10 | g.43124910G>C | CA376558085 | RET | c.2571G>C (p.Lys857Asn) n.2541G>C c.2967G>C (p.Lys989Asn) c.*1561G>C (n.*1561G>C) c.*316G>C (n.*316G>C) c.2205G>C (p.Lys735Asn) | |
| 10 | g.43124910G>T | CA376558086 | RET | c.2571G>T (p.Lys857Asn) n.2541G>T c.2967G>T (p.Lys989Asn) c.*1561G>T (n.*1561G>T) c.*316G>T (n.*316G>T) c.2205G>T (p.Lys735Asn) | ClinVar dbSNP |
| 10 | g.43124911C>A | CA376558087 | RET | c.2572C>A (p.Gln858Lys) n.2542C>A c.2968C>A (p.Gln990Lys) c.*1562C>A (n.*1562C>A) c.*317C>A (n.*317C>A) c.2206C>A (p.Gln736Lys) | |
| 10 | g.43124911C>G | CA376558088 | RET | c.2572C>G (p.Gln858Glu) n.2542C>G c.2968C>G (p.Gln990Glu) c.*1562C>G (n.*1562C>G) c.*317C>G (n.*317C>G) c.2206C>G (p.Gln736Glu) | |
| 10 | g.43124911C>T | CA376558089 | RET | c.2572C>T (p.Gln858Ter) n.2542C>T c.2968C>T (p.Gln990Ter) c.*1562C>T (n.*1562C>T) c.*317C>T (n.*317C>T) c.2206C>T (p.Gln736Ter) | dbSNP |
| 10 | g.43124912A>C | CA376558090 | RET | c.2573A>C (p.Gln858Pro) n.2543A>C c.2969A>C (p.Gln990Pro) c.*1563A>C (n.*1563A>C) c.*318A>C (n.*318A>C) c.2207A>C (p.Gln736Pro) | |
| 10 | g.43124912A>G | CA376558091 | RET | c.2573A>G (p.Gln858Arg) n.2543A>G c.2969A>G (p.Gln990Arg) c.*1563A>G (n.*1563A>G) c.*318A>G (n.*318A>G) c.2207A>G (p.Gln736Arg) | |
| 10 | g.43124912A>T | CA376558092 | RET | c.2573A>T (p.Gln858Leu) n.2543A>T c.2969A>T (p.Gln990Leu) c.*1563A>T (n.*1563A>T) c.*318A>T (n.*318A>T) c.2207A>T (p.Gln736Leu) | |
| 10 | g.43124913G>A | CA469031423 | RET | c.2574G>A (p.Gln858=) n.2544G>A c.2970G>A (p.Gln990=) c.*1564G>A (n.*1564G>A) c.*319G>A (n.*319G>A) c.2208G>A (p.Gln736=) | dbSNP |
| 10 | g.43124913G>C | CA376558093 | RET | c.2574G>C (p.Gln858His) n.2544G>C c.2970G>C (p.Gln990His) c.*1564G>C (n.*1564G>C) c.*319G>C (n.*319G>C) c.2208G>C (p.Gln736His) | |
| 10 | g.43124913G= | CA1905826352 | RET | c.2574G= (p.Gln858=) n.2544G= c.2970G= (p.Gln990=) c.*1564G= (n.*1564G=) c.*319G= (n.*319G=) c.2208G= (p.Gln736=) | |
| 10 | g.43124913G>T | CA376558094 | RET | c.2574G>T (p.Gln858His) n.2544G>T c.2970G>T (p.Gln990His) c.*1564G>T (n.*1564G>T) c.*319G>T (n.*319G>T) c.2208G>T (p.Gln736His) | |
| 10 | g.43124914G>A | CA376558097 | RET | c.2575G>A (p.Glu859Lys) n.2545G>A c.2971G>A (p.Glu991Lys) c.*1565G>A (n.*1565G>A) c.*320G>A (n.*320G>A) c.2209G>A (p.Glu737Lys) | ClinVar COSMIC COSMIC |
| 10 | g.43124914G>C | CA376558095 | RET | c.2575G>C (p.Glu859Gln) n.2545G>C c.2971G>C (p.Glu991Gln) c.*1565G>C (n.*1565G>C) c.*320G>C (n.*320G>C) c.2209G>C (p.Glu737Gln) |