WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51916193C>A | CA479811452 | ACVRL1 | c.936C>A (p.Gly312=) c.1206C>A (p.Gly402=) c.684C>A (p.Gly228=) n.481C>A c.1248C>A (p.Gly416=) c.211C>A c.417C>A (p.Gly139=) | |
| 12 | g.51916193C>G | CA479811455 | ACVRL1 | c.936C>G (p.Gly312=) c.1206C>G (p.Gly402=) c.684C>G (p.Gly228=) n.481C>G c.1248C>G (p.Gly416=) c.211C>G c.417C>G (p.Gly139=) | |
| 12 | g.51916193C>T | CA479811459 | ACVRL1 | c.936C>T (p.Gly312=) c.1206C>T (p.Gly402=) c.684C>T (p.Gly228=) n.481C>T c.1248C>T (p.Gly416=) c.211C>T c.417C>T (p.Gly139=) | |
| 12 | g.51916194C>A | CA384902938 | ACVRL1 | c.937C>A (p.Leu313Met) c.1207C>A (p.Leu403Met) c.685C>A (p.Leu229Met) n.482C>A c.1249C>A (p.Leu417Met) c.212C>A c.418C>A (p.Leu140Met) | |
| 12 | g.51916194C>G | CA384902947 | ACVRL1 | c.937C>G (p.Leu313Val) c.1207C>G (p.Leu403Val) c.685C>G (p.Leu229Val) n.482C>G c.1249C>G (p.Leu417Val) c.212C>G c.418C>G (p.Leu140Val) | |
| 12 | g.51916194C>T | CA479811466 | ACVRL1 | c.937C>T (p.Leu313=) c.1207C>T (p.Leu403=) c.685C>T (p.Leu229=) n.482C>T c.1249C>T (p.Leu417=) c.212C>T c.418C>T (p.Leu140=) | |
| 12 | g.51916195T>A | CA384902949 | ACVRL1 | c.938T>A (p.Leu313Gln) c.1208T>A (p.Leu403Gln) c.686T>A (p.Leu229Gln) n.483T>A c.1250T>A (p.Leu417Gln) c.213T>A c.419T>A (p.Leu140Gln) | |
| 12 | g.51916195T>C | CA384902951 | ACVRL1 | c.938T>C (p.Leu313Pro) c.1208T>C (p.Leu403Pro) c.686T>C (p.Leu229Pro) n.483T>C c.1250T>C (p.Leu417Pro) c.213T>C c.419T>C (p.Leu140Pro) | ClinVar |
| 12 | g.51916195T>G | CA384902952 | ACVRL1 | c.938T>G (p.Leu313Arg) c.1208T>G (p.Leu403Arg) c.686T>G (p.Leu229Arg) n.483T>G c.1250T>G (p.Leu417Arg) c.213T>G c.419T>G (p.Leu140Arg) | |
| 12 | g.51916196G>A | CA479811484 | ACVRL1 | c.939G>A (p.Leu313=) c.1209G>A (p.Leu403=) c.687G>A (p.Leu229=) n.484G>A c.1251G>A (p.Leu417=) c.214G>A c.420G>A (p.Leu140=) | gnomAD v4 |
| 12 | g.51916196G>C | CA479811485 | ACVRL1 | c.939G>C (p.Leu313=) c.1209G>C (p.Leu403=) c.687G>C (p.Leu229=) n.484G>C c.1251G>C (p.Leu417=) c.214G>C c.420G>C (p.Leu140=) | |
| 12 | g.51916196G>T | CA479811486 | ACVRL1 | c.939G>T (p.Leu313=) c.1209G>T (p.Leu403=) c.687G>T (p.Leu229=) n.484G>T c.1251G>T (p.Leu417=) c.214G>T c.420G>T (p.Leu140=) | |
| 12 | g.51916197G>A | CA384902954 | ACVRL1 | c.940G>A (p.Val314Met) c.1210G>A (p.Val404Met) c.688G>A (p.Val230Met) n.485G>A c.1252G>A (p.Val418Met) c.215G>A c.421G>A (p.Val141Met) | |
| 12 | g.51916197G>C | CA384902955 | ACVRL1 | c.940G>C (p.Val314Leu) c.1210G>C (p.Val404Leu) c.688G>C (p.Val230Leu) n.485G>C c.1252G>C (p.Val418Leu) c.215G>C c.421G>C (p.Val141Leu) | |
| 12 | g.51916197G>T | CA384902956 | ACVRL1 | c.940G>T (p.Val314Leu) c.1210G>T (p.Val404Leu) c.688G>T (p.Val230Leu) n.485G>T c.1252G>T (p.Val418Leu) c.215G>T c.421G>T (p.Val141Leu) | |
| 12 | g.51916198T>A | CA384902957 | ACVRL1 | c.941T>A (p.Val314Glu) c.1211T>A (p.Val404Glu) c.689T>A (p.Val230Glu) n.486T>A c.1253T>A (p.Val418Glu) c.216T>A c.422T>A (p.Val141Glu) | ClinVar |
| 12 | g.51916198T>C | CA384902958 | ACVRL1 | c.941T>C (p.Val314Ala) c.1211T>C (p.Val404Ala) c.689T>C (p.Val230Ala) n.486T>C c.1253T>C (p.Val418Ala) c.216T>C c.422T>C (p.Val141Ala) | |
| 12 | g.51916198T>G | CA384902959 | ACVRL1 | c.941T>G (p.Val314Gly) c.1211T>G (p.Val404Gly) c.689T>G (p.Val230Gly) n.486T>G c.1253T>G (p.Val418Gly) c.216T>G c.422T>G (p.Val141Gly) | |
| 12 | g.51916199G>A | CA479811518 | ACVRL1 | c.942G>A (p.Val314=) c.1212G>A (p.Val404=) c.690G>A (p.Val230=) n.487G>A c.1254G>A (p.Val418=) c.217G>A c.423G>A (p.Val141=) | |
| 12 | g.51916199G>C | CA479811513 | ACVRL1 | c.942G>C (p.Val314=) c.1212G>C (p.Val404=) c.690G>C (p.Val230=) n.487G>C c.1254G>C (p.Val418=) c.217G>C c.423G>C (p.Val141=) | |
| 12 | g.51916199G>T | CA479811510 | ACVRL1 | c.942G>T (p.Val314=) c.1212G>T (p.Val404=) c.690G>T (p.Val230=) n.487G>T c.1254G>T (p.Val418=) c.217G>T c.423G>T (p.Val141=) | |
| 12 | g.51916200C>A | CA384902961 | ACVRL1 | c.943C>A (p.Leu315Met) c.1213C>A (p.Leu405Met) c.691C>A (p.Leu231Met) n.488C>A c.1255C>A (p.Leu419Met) c.218C>A c.424C>A (p.Leu142Met) | |
| 12 | g.51916200C>G | CA384902962 | ACVRL1 | c.943C>G (p.Leu315Val) c.1213C>G (p.Leu405Val) c.691C>G (p.Leu231Val) n.488C>G c.1255C>G (p.Leu419Val) c.218C>G c.424C>G (p.Leu142Val) | |
| 12 | g.51916200C>T | CA479811526 | ACVRL1 | c.943C>T (p.Leu315=) c.1213C>T (p.Leu405=) c.691C>T (p.Leu231=) n.488C>T c.1255C>T (p.Leu419=) c.218C>T c.424C>T (p.Leu142=) | |
| 12 | g.51916201T>A | CA384902966 | ACVRL1 | c.944T>A (p.Leu315Gln) c.1214T>A (p.Leu405Gln) c.692T>A (p.Leu231Gln) n.489T>A c.1256T>A (p.Leu419Gln) c.219T>A c.425T>A (p.Leu142Gln) | |
| 12 | g.51916201T>C | CA384902972 | ACVRL1 | c.944T>C (p.Leu315Pro) c.1214T>C (p.Leu405Pro) c.692T>C (p.Leu231Pro) n.489T>C c.1256T>C (p.Leu419Pro) c.219T>C c.425T>C (p.Leu142Pro) | ClinVar |
| 12 | g.51916201T>G | CA384902964 | ACVRL1 | c.944T>G (p.Leu315Arg) c.1214T>G (p.Leu405Arg) c.692T>G (p.Leu231Arg) n.489T>G c.1256T>G (p.Leu419Arg) c.219T>G c.425T>G (p.Leu142Arg) | |
| 12 | g.51916202del | CA2573148784 | ACVRL1 | c.945del (p.Trp316GlyfsTer9) c.1215del (p.Trp406GlyfsTer9) c.693del (p.Trp232GlyfsTer9) n.490del c.1257del (p.Trp420GlyfsTer9) c.220del c.426del (p.Trp143GlyfsTer9) | ClinVar dbSNP |
| 12 | g.51916202G>A | CA6573088 | ACVRL1 | c.945G>A (p.Leu315=) c.1215G>A (p.Leu405=) c.693G>A (p.Leu231=) n.490G>A c.1257G>A (p.Leu419=) c.220G>A c.426G>A (p.Leu142=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51916202G>C | CA479811544 | ACVRL1 | c.945G>C (p.Leu315=) c.1215G>C (p.Leu405=) c.693G>C (p.Leu231=) n.490G>C c.1257G>C (p.Leu419=) c.220G>C c.426G>C (p.Leu142=) | |
| 12 | g.51916202G= | CA2036237119 | ACVRL1 | c.945G= (p.Leu315=) c.1215G= (p.Leu405=) c.693G= (p.Leu231=) n.490G= c.1257G= (p.Leu419=) c.220G= c.426G= (p.Leu142=) | |
| 12 | g.51916202G>T | CA479811549 | ACVRL1 | c.945G>T (p.Leu315=) c.1215G>T (p.Leu405=) c.693G>T (p.Leu231=) n.490G>T c.1257G>T (p.Leu419=) c.220G>T c.426G>T (p.Leu142=) | dbSNP |
| 12 | g.51916203T>A | CA384902975 | ACVRL1 | c.946T>A (p.Trp316Arg) c.1216T>A (p.Trp406Arg) c.694T>A (p.Trp232Arg) n.491T>A c.1258T>A (p.Trp420Arg) c.221T>A c.427T>A (p.Trp143Arg) | |
| 12 | g.51916203T>C | CA384902977 | ACVRL1 | c.946T>C (p.Trp316Arg) c.1216T>C (p.Trp406Arg) c.694T>C (p.Trp232Arg) n.491T>C c.1258T>C (p.Trp420Arg) c.221T>C c.427T>C (p.Trp143Arg) | |
| 12 | g.51916203T>G | CA384902978 | ACVRL1 | c.946T>G (p.Trp316Gly) c.1216T>G (p.Trp406Gly) c.694T>G (p.Trp232Gly) n.491T>G c.1258T>G (p.Trp420Gly) c.221T>G c.427T>G (p.Trp143Gly) | |
| 12 | g.51916204G>A | CA16614169 | ACVRL1 | c.947G>A (p.Trp316Ter) c.1217G>A (p.Trp406Ter) c.695G>A (p.Trp232Ter) n.492G>A c.1259G>A (p.Trp420Ter) c.222G>A c.428G>A (p.Trp143Ter) | ClinVar dbSNP |
| 12 | g.51916204G>C | CA384902979 | ACVRL1 | c.947G>C (p.Trp316Ser) c.1217G>C (p.Trp406Ser) c.695G>C (p.Trp232Ser) n.492G>C c.1259G>C (p.Trp420Ser) c.222G>C c.428G>C (p.Trp143Ser) | |
| 12 | g.51916204G= | CA2036237121 | ACVRL1 | c.947G= (p.Trp316=) c.1217G= (p.Trp406=) c.695G= (p.Trp232=) n.492G= c.1259G= (p.Trp420=) c.222G= c.428G= (p.Trp143=) | |
| 12 | g.51916204G>T | CA384902980 | ACVRL1 | c.947G>T (p.Trp316Leu) c.1217G>T (p.Trp406Leu) c.695G>T (p.Trp232Leu) n.492G>T c.1259G>T (p.Trp420Leu) c.222G>T c.428G>T (p.Trp143Leu) | |
| 12 | g.51916205G>A | CA384902982 | ACVRL1 | c.948G>A (p.Trp316Ter) c.1218G>A (p.Trp406Ter) c.696G>A (p.Trp232Ter) n.493G>A c.1260G>A (p.Trp420Ter) c.223G>A c.429G>A (p.Trp143Ter) | COSMIC COSMIC |
| 12 | g.51916205G>C | CA384902987 | ACVRL1 | c.948G>C (p.Trp316Cys) c.1218G>C (p.Trp406Cys) c.696G>C (p.Trp232Cys) n.493G>C c.1260G>C (p.Trp420Cys) c.223G>C c.429G>C (p.Trp143Cys) | |
| 12 | g.51916205G>T | CA384902988 | ACVRL1 | c.948G>T (p.Trp316Cys) c.1218G>T (p.Trp406Cys) c.696G>T (p.Trp232Cys) n.493G>T c.1260G>T (p.Trp420Cys) c.223G>T c.429G>T (p.Trp143Cys) | ClinVar dbSNP |
| 12 | g.51916206G>A | CA16607366 | ACVRL1 | c.949G>A (p.Glu317Lys) c.1219G>A (p.Glu407Lys) c.697G>A (p.Glu233Lys) n.494G>A c.1261G>A (p.Glu421Lys) c.224G>A c.430G>A (p.Glu144Lys) | ClinVar dbSNP |
| 12 | g.51916206G>C | CA384902989 | ACVRL1 | c.949G>C (p.Glu317Gln) c.1219G>C (p.Glu407Gln) c.697G>C (p.Glu233Gln) n.494G>C c.1261G>C (p.Glu421Gln) c.224G>C c.430G>C (p.Glu144Gln) | |
| 12 | g.51916206G= | CA2036237123 | ACVRL1 | c.949G= (p.Glu317=) c.1219G= (p.Glu407=) c.697G= (p.Glu233=) n.494G= c.1261G= (p.Glu421=) c.224G= c.430G= (p.Glu144=) | |
| 12 | g.51916206G>T | CA384902990 | ACVRL1 | c.949G>T (p.Glu317Ter) c.1219G>T (p.Glu407Ter) c.697G>T (p.Glu233Ter) n.494G>T c.1261G>T (p.Glu421Ter) c.224G>T c.430G>T (p.Glu144Ter) | |
| 12 | g.51916207A= | CA2036237124 | ACVRL1 | c.950A= (p.Glu317=) c.1220A= (p.Glu407=) c.698A= (p.Glu233=) n.495A= c.1262A= (p.Glu421=) c.225A= c.431A= (p.Glu144=) | |
| 12 | g.51916207A>C | CA384902998 | ACVRL1 | c.950A>C (p.Glu317Ala) c.1220A>C (p.Glu407Ala) c.698A>C (p.Glu233Ala) n.495A>C c.1262A>C (p.Glu421Ala) c.225A>C c.431A>C (p.Glu144Ala) | |
| 12 | g.51916207A>G | CA384902991 | ACVRL1 | c.950A>G (p.Glu317Gly) c.1220A>G (p.Glu407Gly) c.698A>G (p.Glu233Gly) n.495A>G c.1262A>G (p.Glu421Gly) c.225A>G c.431A>G (p.Glu144Gly) | ClinVar dbSNP |
| 12 | g.51916207A>T | CA384902996 | ACVRL1 | c.950A>T (p.Glu317Val) c.1220A>T (p.Glu407Val) c.698A>T (p.Glu233Val) n.495A>T c.1262A>T (p.Glu421Val) c.225A>T c.431A>T (p.Glu144Val) |