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.51916185del | CA2580086500 | ACVRL1 | c.928del (p.Ala310ProfsTer15) c.1198del (p.Ala400ProfsTer15) c.676del (p.Ala226ProfsTer15) n.473del c.1240del (p.Ala414ProfsTer15) c.203del c.409del (p.Ala137ProfsTer15) | ClinVar |
| 12 | g.51916184G>A | CA384902889 | ACVRL1 | c.927G>A (p.Trp309Ter) c.1197G>A (p.Trp399Ter) c.675G>A (p.Trp225Ter) n.472G>A c.1239G>A (p.Trp413Ter) c.202G>A c.408G>A (p.Trp136Ter) | ClinVar dbSNP |
| 12 | g.51916184G>C | CA384902894 | ACVRL1 | c.927G>C (p.Trp309Cys) c.1197G>C (p.Trp399Cys) c.675G>C (p.Trp225Cys) n.472G>C c.1239G>C (p.Trp413Cys) c.202G>C c.408G>C (p.Trp136Cys) | |
| 12 | g.51916184G= | CA2036237110 | ACVRL1 | c.927G= (p.Trp309=) c.1197G= (p.Trp399=) c.675G= (p.Trp225=) n.472G= c.1239G= (p.Trp413=) c.202G= c.408G= (p.Trp136=) | |
| 12 | g.51916184G>T | CA384902896 | ACVRL1 | c.927G>T (p.Trp309Cys) c.1197G>T (p.Trp399Cys) c.675G>T (p.Trp225Cys) n.472G>T c.1239G>T (p.Trp413Cys) c.202G>T c.408G>T (p.Trp136Cys) | |
| 12 | g.51916185G>A | CA384902898 | ACVRL1 | c.928G>A (p.Ala310Thr) c.1198G>A (p.Ala400Thr) c.676G>A (p.Ala226Thr) n.473G>A c.1240G>A (p.Ala414Thr) c.203G>A c.409G>A (p.Ala137Thr) | ClinVar |
| 12 | g.51916185G>C | CA384902900 | ACVRL1 | c.928G>C (p.Ala310Pro) c.1198G>C (p.Ala400Pro) c.676G>C (p.Ala226Pro) n.473G>C c.1240G>C (p.Ala414Pro) c.203G>C c.409G>C (p.Ala137Pro) | ClinVar dbSNP |
| 12 | g.51916185G>T | CA384902902 | ACVRL1 | c.928G>T (p.Ala310Ser) c.1198G>T (p.Ala400Ser) c.676G>T (p.Ala226Ser) n.473G>T c.1240G>T (p.Ala414Ser) c.203G>T c.409G>T (p.Ala137Ser) | |
| 12 | g.51916186C>A | CA384902908 | ACVRL1 | c.929C>A (p.Ala310Asp) c.1199C>A (p.Ala400Asp) c.677C>A (p.Ala226Asp) n.474C>A c.1241C>A (p.Ala414Asp) c.204C>A c.410C>A (p.Ala137Asp) | ClinVar dbSNP |
| 12 | g.51916186C>G | CA384902906 | ACVRL1 | c.929C>G (p.Ala310Gly) c.1199C>G (p.Ala400Gly) c.677C>G (p.Ala226Gly) n.474C>G c.1241C>G (p.Ala414Gly) c.204C>G c.410C>G (p.Ala137Gly) | |
| 12 | g.51916186C>T | CA384902904 | ACVRL1 | c.929C>T (p.Ala310Val) c.1199C>T (p.Ala400Val) c.677C>T (p.Ala226Val) n.474C>T c.1241C>T (p.Ala414Val) c.204C>T c.410C>T (p.Ala137Val) | ClinVar |
| 12 | g.51916187C>A | CA479811380 | ACVRL1 | c.930C>A (p.Ala310=) c.1200C>A (p.Ala400=) c.678C>A (p.Ala226=) n.475C>A c.1242C>A (p.Ala414=) c.205C>A c.411C>A (p.Ala137=) | |
| 12 | g.51916187C>G | CA479811384 | ACVRL1 | c.930C>G (p.Ala310=) c.1200C>G (p.Ala400=) c.678C>G (p.Ala226=) n.475C>G c.1242C>G (p.Ala414=) c.205C>G c.411C>G (p.Ala137=) | |
| 12 | g.51916187C>T | CA479811387 | ACVRL1 | c.930C>T (p.Ala310=) c.1200C>T (p.Ala400=) c.678C>T (p.Ala226=) n.475C>T c.1242C>T (p.Ala414=) c.205C>T c.411C>T (p.Ala137=) | dbSNP |
| 12 | g.51916188T>A | CA384902909 | ACVRL1 | c.931T>A (p.Phe311Ile) c.1201T>A (p.Phe401Ile) c.679T>A (p.Phe227Ile) n.476T>A c.1243T>A (p.Phe415Ile) c.206T>A c.412T>A (p.Phe138Ile) | |
| 12 | g.51916188T>C | CA384902910 | ACVRL1 | c.931T>C (p.Phe311Leu) c.1201T>C (p.Phe401Leu) c.679T>C (p.Phe227Leu) n.476T>C c.1243T>C (p.Phe415Leu) c.206T>C c.412T>C (p.Phe138Leu) | |
| 12 | g.51916188T>G | CA384902911 | ACVRL1 | c.931T>G (p.Phe311Val) c.1201T>G (p.Phe401Val) c.679T>G (p.Phe227Val) n.476T>G c.1243T>G (p.Phe415Val) c.206T>G c.412T>G (p.Phe138Val) | |
| 12 | g.51916189T>A | CA384902914 | ACVRL1 | c.932T>A (p.Phe311Tyr) c.1202T>A (p.Phe401Tyr) c.680T>A (p.Phe227Tyr) n.477T>A c.1244T>A (p.Phe415Tyr) c.207T>A c.413T>A (p.Phe138Tyr) | |
| 12 | g.51916189T>C | CA384902915 | ACVRL1 | c.932T>C (p.Phe311Ser) c.1202T>C (p.Phe401Ser) c.680T>C (p.Phe227Ser) n.477T>C c.1244T>C (p.Phe415Ser) c.207T>C c.413T>C (p.Phe138Ser) | |
| 12 | g.51916189T>G | CA384902917 | ACVRL1 | c.932T>G (p.Phe311Cys) c.1202T>G (p.Phe401Cys) c.680T>G (p.Phe227Cys) n.477T>G c.1244T>G (p.Phe415Cys) c.207T>G c.413T>G (p.Phe138Cys) | |
| 12 | g.51916190T>A | CA384902919 | ACVRL1 | c.933T>A (p.Phe311Leu) c.1203T>A (p.Phe401Leu) c.681T>A (p.Phe227Leu) n.478T>A c.1245T>A (p.Phe415Leu) c.208T>A c.414T>A (p.Phe138Leu) | |
| 12 | g.51916190T>C | CA479811437 | ACVRL1 | c.933T>C (p.Phe311=) c.1203T>C (p.Phe401=) c.681T>C (p.Phe227=) n.478T>C c.1245T>C (p.Phe415=) c.208T>C c.414T>C (p.Phe138=) | |
| 12 | g.51916190T>G | CA384902921 | ACVRL1 | c.933T>G (p.Phe311Leu) c.1203T>G (p.Phe401Leu) c.681T>G (p.Phe227Leu) n.478T>G c.1245T>G (p.Phe415Leu) c.208T>G c.414T>G (p.Phe138Leu) | |
| 12 | g.51916191G>A | CA384902923 | ACVRL1 | c.934G>A (p.Gly312Ser) c.1204G>A (p.Gly402Ser) c.682G>A (p.Gly228Ser) n.479G>A c.1246G>A (p.Gly416Ser) c.209G>A c.415G>A (p.Gly139Ser) | ClinVar dbSNP |
| 12 | g.51916191G>C | CA384902924 | ACVRL1 | c.934G>C (p.Gly312Arg) c.1204G>C (p.Gly402Arg) c.682G>C (p.Gly228Arg) n.479G>C c.1246G>C (p.Gly416Arg) c.209G>C c.415G>C (p.Gly139Arg) | |
| 12 | g.51916191G= | CA2036237114 | ACVRL1 | c.934G= (p.Gly312=) c.1204G= (p.Gly402=) c.682G= (p.Gly228=) n.479G= c.1246G= (p.Gly416=) c.209G= c.415G= (p.Gly139=) | |
| 12 | g.51916191G>T | CA384902925 | ACVRL1 | c.934G>T (p.Gly312Cys) c.1204G>T (p.Gly402Cys) c.682G>T (p.Gly228Cys) n.479G>T c.1246G>T (p.Gly416Cys) c.209G>T c.415G>T (p.Gly139Cys) | |
| 12 | g.51916192G>A | CA384902931 | ACVRL1 | c.935G>A (p.Gly312Asp) c.1205G>A (p.Gly402Asp) c.683G>A (p.Gly228Asp) n.480G>A c.1247G>A (p.Gly416Asp) c.210G>A c.416G>A (p.Gly139Asp) | |
| 12 | g.51916192G>C | CA384902929 | ACVRL1 | c.935G>C (p.Gly312Ala) c.1205G>C (p.Gly402Ala) c.683G>C (p.Gly228Ala) n.480G>C c.1247G>C (p.Gly416Ala) c.210G>C c.416G>C (p.Gly139Ala) | |
| 12 | g.51916192G>T | CA384902927 | ACVRL1 | c.935G>T (p.Gly312Val) c.1205G>T (p.Gly402Val) c.683G>T (p.Gly228Val) n.480G>T c.1247G>T (p.Gly416Val) c.210G>T c.416G>T (p.Gly139Val) | |
| 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=) |