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.51915407G>A | CA384901282 | ACVRL1 | c.685G>A (p.Gly229Ser) c.955G>A (p.Gly319Ser) c.433G>A (p.Gly145Ser) c.997G>A (p.Gly333Ser) c.166G>A (p.Gly56Ser) | dbSNP gnomAD v4 |
| 12 | g.51915407G>C | CA384901287 | ACVRL1 | c.685G>C (p.Gly229Arg) c.955G>C (p.Gly319Arg) c.433G>C (p.Gly145Arg) c.997G>C (p.Gly333Arg) c.166G>C (p.Gly56Arg) | ClinVar dbSNP |
| 12 | g.51915407G= | CA2036269511 | ACVRL1 | c.685G= (p.Gly229=) c.955G= (p.Gly319=) c.433G= (p.Gly145=) c.997G= (p.Gly333=) c.166G= (p.Gly56=) | |
| 12 | g.51915407G>T | CA384901288 | ACVRL1 | c.685G>T (p.Gly229Cys) c.955G>T (p.Gly319Cys) c.433G>T (p.Gly145Cys) c.997G>T (p.Gly333Cys) c.166G>T (p.Gly56Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51915408G>A | CA384901289 | ACVRL1 | c.686G>A (p.Gly229Asp) c.956G>A (p.Gly319Asp) c.434G>A (p.Gly145Asp) c.998G>A (p.Gly333Asp) c.167G>A (p.Gly56Asp) | ClinVar |
| 12 | g.51915408G>C | CA384901292 | ACVRL1 | c.686G>C (p.Gly229Ala) c.956G>C (p.Gly319Ala) c.434G>C (p.Gly145Ala) c.998G>C (p.Gly333Ala) c.167G>C (p.Gly56Ala) | gnomAD v4 |
| 12 | g.51915408G>T | CA384901297 | ACVRL1 | c.686G>T (p.Gly229Val) c.956G>T (p.Gly319Val) c.434G>T (p.Gly145Val) c.998G>T (p.Gly333Val) c.167G>T (p.Gly56Val) | |
| 12 | g.51915409T>A | CA480063254 | ACVRL1 | c.687T>A (p.Gly229=) c.957T>A (p.Gly319=) c.435T>A (p.Gly145=) c.999T>A (p.Gly333=) c.168T>A (p.Gly56=) | |
| 12 | g.51915409T>C | CA6573025 | ACVRL1 | c.687T>C (p.Gly229=) c.957T>C (p.Gly319=) c.435T>C (p.Gly145=) c.999T>C (p.Gly333=) c.168T>C (p.Gly56=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915409T>G | CA480063255 | ACVRL1 | c.687T>G (p.Gly229=) c.957T>G (p.Gly319=) c.435T>G (p.Gly145=) c.999T>G (p.Gly333=) c.168T>G (p.Gly56=) | |
| 12 | g.51915409T= | CA2036269513 | ACVRL1 | c.687T= (p.Gly229=) c.957T= (p.Gly319=) c.435T= (p.Gly145=) c.999T= (p.Gly333=) c.168T= (p.Gly56=) | |
| 12 | g.51915409_51915414delinsTACACA | CA2036269512 | ACVRL1 | c.687_692delinsTACACA (p.Gly229=) c.957_962delinsTACACA (p.Gly319=) c.435_440delinsTACACA (p.Gly145=) c.999_1004delinsTACACA (p.Gly333=) c.168_173delinsTACACA (p.Gly56=) | |
| 12 | g.51915410A>C | CA384901298 | ACVRL1 | c.688A>C (p.Thr230Pro) c.958A>C (p.Thr320Pro) c.436A>C (p.Thr146Pro) c.1000A>C (p.Thr334Pro) c.169A>C (p.Thr57Pro) | |
| 12 | g.51915410A>G | CA384901306 | ACVRL1 | c.688A>G (p.Thr230Ala) c.958A>G (p.Thr320Ala) c.436A>G (p.Thr146Ala) c.1000A>G (p.Thr334Ala) c.169A>G (p.Thr57Ala) | |
| 12 | g.51915410A>T | CA384901307 | ACVRL1 | c.688A>T (p.Thr230Ser) c.958A>T (p.Thr320Ser) c.436A>T (p.Thr146Ser) c.1000A>T (p.Thr334Ser) c.169A>T (p.Thr57Ser) | |
| 12 | g.51915410_51915414del | CA605238841 | ACVRL1 | c.688_692del (p.Thr230GlyfsTer?) c.958_962del (p.Thr320GlyfsTer?) c.436_440del (p.Thr146GlyfsTer?) c.1000_1004del (p.Thr334GlyfsTer?) c.169_173del (p.Thr57GlyfsTer?) | dbSNP gnomAD v2 |
| 12 | g.51915411C>A | CA384901314 | ACVRL1 | c.689C>A (p.Thr230Lys) c.959C>A (p.Thr320Lys) c.437C>A (p.Thr146Lys) c.1001C>A (p.Thr334Lys) c.170C>A (p.Thr57Lys) | |
| 12 | g.51915411C>G | CA384901311 | ACVRL1 | c.689C>G (p.Thr230Arg) c.959C>G (p.Thr320Arg) c.437C>G (p.Thr146Arg) c.1001C>G (p.Thr334Arg) c.170C>G (p.Thr57Arg) | |
| 12 | g.51915411C>T | CA384901308 | ACVRL1 | c.689C>T (p.Thr230Ile) c.959C>T (p.Thr320Ile) c.437C>T (p.Thr146Ile) c.1001C>T (p.Thr334Ile) c.170C>T (p.Thr57Ile) | |
| 12 | g.51915412A>C | CA480063256 | ACVRL1 | c.690A>C (p.Thr230=) c.960A>C (p.Thr320=) c.438A>C (p.Thr146=) c.1002A>C (p.Thr334=) c.171A>C (p.Thr57=) | |
| 12 | g.51915412A>G | CA480063257 | ACVRL1 | c.690A>G (p.Thr230=) c.960A>G (p.Thr320=) c.438A>G (p.Thr146=) c.1002A>G (p.Thr334=) c.171A>G (p.Thr57=) | |
| 12 | g.51915412A>T | CA480063258 | ACVRL1 | c.690A>T (p.Thr230=) c.960A>T (p.Thr320=) c.438A>T (p.Thr146=) c.1002A>T (p.Thr334=) c.171A>T (p.Thr57=) | |
| 12 | g.51915413C>A | CA384901319 | ACVRL1 | c.691C>A (p.Gln231Lys) c.961C>A (p.Gln321Lys) c.439C>A (p.Gln147Lys) c.1003C>A (p.Gln335Lys) c.172C>A (p.Gln58Lys) | |
| 12 | g.51915413C>G | CA384901322 | ACVRL1 | c.691C>G (p.Gln231Glu) c.961C>G (p.Gln321Glu) c.439C>G (p.Gln147Glu) c.1003C>G (p.Gln335Glu) c.172C>G (p.Gln58Glu) | |
| 12 | g.51915413C>T | CA384901324 | ACVRL1 | c.691C>T (p.Gln231Ter) c.961C>T (p.Gln321Ter) c.439C>T (p.Gln147Ter) c.1003C>T (p.Gln335Ter) c.172C>T (p.Gln58Ter) | ClinVar dbSNP |
| 12 | g.51915414A>C | CA384901325 | ACVRL1 | c.692A>C (p.Gln231Pro) c.962A>C (p.Gln321Pro) c.440A>C (p.Gln147Pro) c.1004A>C (p.Gln335Pro) c.173A>C (p.Gln58Pro) | |
| 12 | g.51915414A>G | CA384901326 | ACVRL1 | c.692A>G (p.Gln231Arg) c.962A>G (p.Gln321Arg) c.440A>G (p.Gln147Arg) c.1004A>G (p.Gln335Arg) c.173A>G (p.Gln58Arg) | |
| 12 | g.51915414A>T | CA384901327 | ACVRL1 | c.692A>T (p.Gln231Leu) c.962A>T (p.Gln321Leu) c.440A>T (p.Gln147Leu) c.1004A>T (p.Gln335Leu) c.173A>T (p.Gln58Leu) | |
| 12 | g.51915414_51915415del | CA2580086484 | ACVRL1 | c.692_693del (p.Gln231ArgfsTer?) c.962_963del (p.Gln321ArgfsTer?) c.440_441del (p.Gln147ArgfsTer?) c.1004_1005del (p.Gln335ArgfsTer?) c.173_174del (p.Gln58ArgfsTer?) | ClinVar |
| 12 | g.51915415G>A | CA480063259 | ACVRL1 | c.693G>A (p.Gln231=) c.963G>A (p.Gln321=) c.441G>A (p.Gln147=) c.1005G>A (p.Gln335=) c.174G>A (p.Gln58=) | gnomAD v4 COSMIC COSMIC |
| 12 | g.51915415G>C | CA384901329 | ACVRL1 | c.693G>C (p.Gln231His) c.963G>C (p.Gln321His) c.441G>C (p.Gln147His) c.1005G>C (p.Gln335His) c.174G>C (p.Gln58His) | |
| 12 | g.51915415G>T | CA384901331 | ACVRL1 | c.693G>T (p.Gln231His) c.963G>T (p.Gln321His) c.441G>T (p.Gln147His) c.1005G>T (p.Gln335His) c.174G>T (p.Gln58His) | |
| 12 | g.51915416G>A | CA384901333 | ACVRL1 | c.694G>A (p.Gly232Ser) c.964G>A (p.Gly322Ser) c.442G>A (p.Gly148Ser) c.1006G>A (p.Gly336Ser) c.175G>A (p.Gly59Ser) | |
| 12 | g.51915416G>C | CA384901340 | ACVRL1 | c.694G>C (p.Gly232Arg) c.964G>C (p.Gly322Arg) c.442G>C (p.Gly148Arg) c.1006G>C (p.Gly336Arg) c.175G>C (p.Gly59Arg) | |
| 12 | g.51915416G= | CA2036269514 | ACVRL1 | c.694G= (p.Gly232=) c.964G= (p.Gly322=) c.442G= (p.Gly148=) c.1006G= (p.Gly336=) c.175G= (p.Gly59=) | |
| 12 | g.51915416G>T | CA384901342 | ACVRL1 | c.694G>T (p.Gly232Cys) c.964G>T (p.Gly322Cys) c.442G>T (p.Gly148Cys) c.1006G>T (p.Gly336Cys) c.175G>T (p.Gly59Cys) | |
| 12 | g.51915416_51915417insTC | CA605238842 | ACVRL1 | c.694_695insTC (p.Gly232ValfsTer?) c.964_965insTC (p.Gly322ValfsTer?) c.442_443insTC (p.Gly148ValfsTer?) c.1006_1007insTC (p.Gly336ValfsTer?) c.175_176insTC (p.Gly59ValfsTer?) | dbSNP gnomAD v2 |
| 12 | g.51915417G>A | CA6573026 | ACVRL1 | c.695G>A (p.Gly232Asp) c.965G>A (p.Gly322Asp) c.443G>A (p.Gly148Asp) c.1007G>A (p.Gly336Asp) c.176G>A (p.Gly59Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.51915417G>C | CA384901344 | ACVRL1 | c.695G>C (p.Gly232Ala) c.965G>C (p.Gly322Ala) c.443G>C (p.Gly148Ala) c.1007G>C (p.Gly336Ala) c.176G>C (p.Gly59Ala) | |
| 12 | g.51915417G= | CA2036269515 | ACVRL1 | c.695G= (p.Gly232=) c.965G= (p.Gly322=) c.443G= (p.Gly148=) c.1007G= (p.Gly336=) c.176G= (p.Gly59=) | |
| 12 | g.51915417G>T | CA384901343 | ACVRL1 | c.695G>T (p.Gly232Val) c.965G>T (p.Gly322Val) c.443G>T (p.Gly148Val) c.1007G>T (p.Gly336Val) c.176G>T (p.Gly59Val) | |
| 12 | g.51915418C>A | CA480063260 | ACVRL1 | c.696C>A (p.Gly232=) c.966C>A (p.Gly322=) c.444C>A (p.Gly148=) c.1008C>A (p.Gly336=) c.177C>A (p.Gly59=) | |
| 12 | g.51915418C= | CA2036269516 | ACVRL1 | c.696C= (p.Gly232=) c.966C= (p.Gly322=) c.444C= (p.Gly148=) c.1008C= (p.Gly336=) c.177C= (p.Gly59=) | |
| 12 | g.51915418C>G | CA480063261 | ACVRL1 | c.696C>G (p.Gly232=) c.966C>G (p.Gly322=) c.444C>G (p.Gly148=) c.1008C>G (p.Gly336=) c.177C>G (p.Gly59=) | gnomAD v4 |
| 12 | g.51915418C>T | CA480063262 | ACVRL1 | c.696C>T (p.Gly232=) c.966C>T (p.Gly322=) c.444C>T (p.Gly148=) c.1008C>T (p.Gly336=) c.177C>T (p.Gly59=) | |
| 12 | g.51915418_51915419insCGTATCATTA | CA605238843 | ACVRL1 | c.696_697insCGTATCATTA (p.Lys233ArgfsTer?) c.966_967insCGTATCATTA (p.Lys323ArgfsTer?) c.444_445insCGTATCATTA (p.Lys149ArgfsTer?) c.1008_1009insCGTATCATTA (p.Lys337ArgfsTer?) c.177_178insCGTATCATTA (p.Lys60ArgfsTer?) | dbSNP gnomAD v2 |
| 12 | g.51915419A>C | CA384901345 | ACVRL1 | c.697A>C (p.Lys233Gln) c.967A>C (p.Lys323Gln) c.445A>C (p.Lys149Gln) c.1009A>C (p.Lys337Gln) c.178A>C (p.Lys60Gln) | |
| 12 | g.51915419A>G | CA384901351 | ACVRL1 | c.697A>G (p.Lys233Glu) c.967A>G (p.Lys323Glu) c.445A>G (p.Lys149Glu) c.1009A>G (p.Lys337Glu) c.178A>G (p.Lys60Glu) | ClinVar |
| 12 | g.51915419A>T | CA384901353 | ACVRL1 | c.697A>T (p.Lys233Ter) c.967A>T (p.Lys323Ter) c.445A>T (p.Lys149Ter) c.1009A>T (p.Lys337Ter) c.178A>T (p.Lys60Ter) | |
| 12 | g.51915421dup | CA2695216748 | ACVRL1 | c.699dup (p.Pro234ThrfsTer?) c.969dup (p.Pro324ThrfsTer?) c.447dup (p.Pro150ThrfsTer?) c.1011dup (p.Pro338ThrfsTer?) c.180dup (p.Pro61ThrfsTer?) |