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.51914434_51914447del | CA2695216726 | ACVRL1 | c.356-5_364del c.626-5_634del c.104-5_112del c.668-5_676del c.-164-5_-156del | |
| 12 | g.51914445G>A | CA119406 | ACVRL1 | c.362G>A (p.Gly121Asp) c.632G>A (p.Gly211Asp) c.110G>A (p.Gly37Asp) c.674G>A (p.Gly225Asp) c.-158G>A (n.-158G>A) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51914445G>C | CA384899959 | ACVRL1 | c.362G>C (p.Gly121Ala) c.632G>C (p.Gly211Ala) c.110G>C (p.Gly37Ala) c.674G>C (p.Gly225Ala) c.-158G>C (n.-158G>C) | |
| 12 | g.51914445G= | CA2036268927 | ACVRL1 | c.362G= (p.Gly121=) c.632G= (p.Gly211=) c.110G= (p.Gly37=) c.674G= (p.Gly225=) c.-158G= (n.-158G=) | |
| 12 | g.51914445G>T | CA384899958 | ACVRL1 | c.362G>T (p.Gly121Val) c.632G>T (p.Gly211Val) c.110G>T (p.Gly37Val) c.674G>T (p.Gly225Val) c.-158G>T (n.-158G>T) | gnomAD v4 |
| 12 | g.51914446C>A | CA479807054 | ACVRL1 | c.363C>A (p.Gly121=) c.633C>A (p.Gly211=) c.111C>A (p.Gly37=) c.675C>A (p.Gly225=) c.-157C>A (n.-157C>A) | |
| 12 | g.51914446C= | CA2036268934 | ACVRL1 | c.363C= (p.Gly121=) c.633C= (p.Gly211=) c.111C= (p.Gly37=) c.675C= (p.Gly225=) c.-157C= (n.-157C=) | |
| 12 | g.51914446C>G | CA479807058 | ACVRL1 | c.363C>G (p.Gly121=) c.633C>G (p.Gly211=) c.111C>G (p.Gly37=) c.675C>G (p.Gly225=) c.-157C>G (n.-157C>G) | COSMIC |
| 12 | g.51914446C>T | CA479807060 | ACVRL1 | c.363C>T (p.Gly121=) c.633C>T (p.Gly211=) c.111C>T (p.Gly37=) c.675C>T (p.Gly225=) c.-157C>T (n.-157C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51914447C>A | CA384899960 | ACVRL1 | c.364C>A (p.Arg122Ser) c.634C>A (p.Arg212Ser) c.112C>A (p.Arg38Ser) c.676C>A (p.Arg226Ser) c.-156C>A (n.-156C>A) | |
| 12 | g.51914447C= | CA2036268938 | ACVRL1 | c.364C= (p.Arg122=) c.634C= (p.Arg212=) c.112C= (p.Arg38=) c.676C= (p.Arg226=) c.-156C= (n.-156C=) | |
| 12 | g.51914447C>G | CA384899961 | ACVRL1 | c.364C>G (p.Arg122Gly) c.634C>G (p.Arg212Gly) c.112C>G (p.Arg38Gly) c.676C>G (p.Arg226Gly) c.-156C>G (n.-156C>G) | |
| 12 | g.51914447C>T | CA384899962 | ACVRL1 | c.364C>T (p.Arg122Cys) c.634C>T (p.Arg212Cys) c.112C>T (p.Arg38Cys) c.676C>T (p.Arg226Cys) c.-156C>T (n.-156C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51914448G>A | CA384899963 | ACVRL1 | c.365G>A (p.Arg122His) c.635G>A (p.Arg212His) c.113G>A (p.Arg38His) c.677G>A (p.Arg226His) c.-155G>A (n.-155G>A) | dbSNP gnomAD v4 |
| 12 | g.51914448G>C | CA384899964 | ACVRL1 | c.365G>C (p.Arg122Pro) c.635G>C (p.Arg212Pro) c.113G>C (p.Arg38Pro) c.677G>C (p.Arg226Pro) c.-155G>C (n.-155G>C) | |
| 12 | g.51914448G= | CA2036268942 | ACVRL1 | c.365G= (p.Arg122=) c.635G= (p.Arg212=) c.113G= (p.Arg38=) c.677G= (p.Arg226=) c.-155G= (n.-155G=) | |
| 12 | g.51914448G>T | CA384899965 | ACVRL1 | c.365G>T (p.Arg122Leu) c.635G>T (p.Arg212Leu) c.113G>T (p.Arg38Leu) c.677G>T (p.Arg226Leu) c.-155G>T (n.-155G>T) | |
| 12 | g.51914449C>A | CA479807079 | ACVRL1 | c.366C>A (p.Arg122=) c.636C>A (p.Arg212=) c.114C>A (p.Arg38=) c.678C>A (p.Arg226=) c.-154C>A (n.-154C>A) | |
| 12 | g.51914449C>G | CA479807083 | ACVRL1 | c.366C>G (p.Arg122=) c.636C>G (p.Arg212=) c.114C>G (p.Arg38=) c.678C>G (p.Arg226=) c.-154C>G (n.-154C>G) | |
| 12 | g.51914449C>T | CA479807090 | ACVRL1 | c.366C>T (p.Arg122=) c.636C>T (p.Arg212=) c.114C>T (p.Arg38=) c.678C>T (p.Arg226=) c.-154C>T (n.-154C>T) | COSMIC COSMIC |
| 12 | g.51914450T>A | CA384899968 | ACVRL1 | c.367T>A (p.Tyr123Asn) c.637T>A (p.Tyr213Asn) c.115T>A (p.Tyr39Asn) c.679T>A (p.Tyr227Asn) c.-153T>A (n.-153T>A) | |
| 12 | g.51914450T>C | CA384899966 | ACVRL1 | c.367T>C (p.Tyr123His) c.637T>C (p.Tyr213His) c.115T>C (p.Tyr39His) c.679T>C (p.Tyr227His) c.-153T>C (n.-153T>C) | gnomAD v4 |
| 12 | g.51914450T>G | CA384899967 | ACVRL1 | c.367T>G (p.Tyr123Asp) c.637T>G (p.Tyr213Asp) c.115T>G (p.Tyr39Asp) c.679T>G (p.Tyr227Asp) c.-153T>G (n.-153T>G) | |
| 12 | g.51914451A>C | CA384899969 | ACVRL1 | c.368A>C (p.Tyr123Ser) c.638A>C (p.Tyr213Ser) c.116A>C (p.Tyr39Ser) c.680A>C (p.Tyr227Ser) c.-152A>C (n.-152A>C) | |
| 12 | g.51914451A>G | CA384899970 | ACVRL1 | c.368A>G (p.Tyr123Cys) c.638A>G (p.Tyr213Cys) c.116A>G (p.Tyr39Cys) c.680A>G (p.Tyr227Cys) c.-152A>G (n.-152A>G) | |
| 12 | g.51914451A>T | CA384899971 | ACVRL1 | c.368A>T (p.Tyr123Phe) c.638A>T (p.Tyr213Phe) c.116A>T (p.Tyr39Phe) c.680A>T (p.Tyr227Phe) c.-152A>T (n.-152A>T) | |
| 12 | g.51914452T>A | CA384899972 | ACVRL1 | c.369T>A (p.Tyr123Ter) c.639T>A (p.Tyr213Ter) c.117T>A (p.Tyr39Ter) c.681T>A (p.Tyr227Ter) c.-151T>A (n.-151T>A) | ClinVar |
| 12 | g.51914452T>C | CA236363364 | ACVRL1 | c.369T>C (p.Tyr123=) c.639T>C (p.Tyr213=) c.117T>C (p.Tyr39=) c.681T>C (p.Tyr227=) c.-151T>C (n.-151T>C) | dbSNP gnomAD v4 |
| 12 | g.51914452T>G | CA384899973 | ACVRL1 | c.369T>G (p.Tyr123Ter) c.639T>G (p.Tyr213Ter) c.117T>G (p.Tyr39Ter) c.681T>G (p.Tyr227Ter) c.-151T>G (n.-151T>G) | ClinVar dbSNP |
| 12 | g.51914452T= | CA2036268946 | ACVRL1 | c.369T= (p.Tyr123=) c.639T= (p.Tyr213=) c.117T= (p.Tyr39=) c.681T= (p.Tyr227=) c.-151T= (n.-151T=) | |
| 12 | g.51914452_51914453delinsTG | CA2036268949 | ACVRL1 | c.369_370delinsTG (p.Tyr123=) c.639_640delinsTG (p.Tyr213=) c.117_118delinsTG (p.Tyr39=) c.681_682delinsTG (p.Tyr227=) c.-151_-150delinsTG (n.-151_-150delinsTG) | |
| 12 | g.51914453G>A | CA384899974 | ACVRL1 | c.370G>A (p.Gly124Ser) c.640G>A (p.Gly214Ser) c.118G>A (p.Gly40Ser) c.682G>A (p.Gly228Ser) c.-150G>A (n.-150G>A) | |
| 12 | g.51914453G>C | CA384899976 | ACVRL1 | c.370G>C (p.Gly124Arg) c.640G>C (p.Gly214Arg) c.118G>C (p.Gly40Arg) c.682G>C (p.Gly228Arg) c.-150G>C (n.-150G>C) | |
| 12 | g.51914453G>T | CA384899975 | ACVRL1 | c.370G>T (p.Gly124Cys) c.640G>T (p.Gly214Cys) c.118G>T (p.Gly40Cys) c.682G>T (p.Gly228Cys) c.-150G>T (n.-150G>T) | |
| 12 | g.51914454del | CA658656304 | ACVRL1 | c.371del (p.Gly124AlafsTer?) c.641del (p.Gly214AlafsTer?) c.119del (p.Gly40AlafsTer?) c.683del (p.Gly228AlafsTer?) c.-149del (n.-149del) | ClinVar dbSNP |
| 12 | g.51914454G>A | CA384899977 | ACVRL1 | c.371G>A (p.Gly124Asp) c.641G>A (p.Gly214Asp) c.119G>A (p.Gly40Asp) c.683G>A (p.Gly228Asp) c.-149G>A (n.-149G>A) | |
| 12 | g.51914454G>C | CA384899978 | ACVRL1 | c.371G>C (p.Gly124Ala) c.641G>C (p.Gly214Ala) c.119G>C (p.Gly40Ala) c.683G>C (p.Gly228Ala) c.-149G>C (n.-149G>C) | |
| 12 | g.51914454G>T | CA384899979 | ACVRL1 | c.371G>T (p.Gly124Val) c.641G>T (p.Gly214Val) c.119G>T (p.Gly40Val) c.683G>T (p.Gly228Val) c.-149G>T (n.-149G>T) | ClinVar gnomAD v4 |
| 12 | g.51914455C>A | CA479807119 | ACVRL1 | c.372C>A (p.Gly124=) c.642C>A (p.Gly214=) c.120C>A (p.Gly40=) c.684C>A (p.Gly228=) c.-148C>A (n.-148C>A) | |
| 12 | g.51914455C= | CA2036268958 | ACVRL1 | c.372C= (p.Gly124=) c.642C= (p.Gly214=) c.120C= (p.Gly40=) c.684C= (p.Gly228=) c.-148C= (n.-148C=) | |
| 12 | g.51914455C>G | CA479807121 | ACVRL1 | c.372C>G (p.Gly124=) c.642C>G (p.Gly214=) c.120C>G (p.Gly40=) c.684C>G (p.Gly228=) c.-148C>G (n.-148C>G) | |
| 12 | g.51914455C>T | CA6572960 | ACVRL1 | c.372C>T (p.Gly124=) c.642C>T (p.Gly214=) c.120C>T (p.Gly40=) c.684C>T (p.Gly228=) c.-148C>T (n.-148C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51914456G>A | CA6572961 | ACVRL1 | c.373G>A (p.Glu125Lys) c.643G>A (p.Glu215Lys) c.121G>A (p.Glu41Lys) c.685G>A (p.Glu229Lys) c.-147G>A (n.-147G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51914456G>C | CA384899980 | ACVRL1 | c.373G>C (p.Glu125Gln) c.643G>C (p.Glu215Gln) c.121G>C (p.Glu41Gln) c.685G>C (p.Glu229Gln) c.-147G>C (n.-147G>C) | |
| 12 | g.51914456G= | CA2036268963 | ACVRL1 | c.373G= (p.Glu125=) c.643G= (p.Glu215=) c.121G= (p.Glu41=) c.685G= (p.Glu229=) c.-147G= (n.-147G=) | |
| 12 | g.51914456G>T | CA384899981 | ACVRL1 | c.373G>T (p.Glu125Ter) c.643G>T (p.Glu215Ter) c.121G>T (p.Glu41Ter) c.685G>T (p.Glu229Ter) c.-147G>T (n.-147G>T) | ClinVar |
| 12 | g.51914457A>C | CA384899982 | ACVRL1 | c.374A>C (p.Glu125Ala) c.644A>C (p.Glu215Ala) c.122A>C (p.Glu41Ala) c.686A>C (p.Glu229Ala) c.-146A>C (n.-146A>C) | |
| 12 | g.51914457A>G | CA384899983 | ACVRL1 | c.374A>G (p.Glu125Gly) c.644A>G (p.Glu215Gly) c.122A>G (p.Glu41Gly) c.686A>G (p.Glu229Gly) c.-146A>G (n.-146A>G) | |
| 12 | g.51914457A>T | CA384899984 | ACVRL1 | c.374A>T (p.Glu125Val) c.644A>T (p.Glu215Val) c.122A>T (p.Glu41Val) c.686A>T (p.Glu229Val) c.-146A>T (n.-146A>T) | |
| 12 | g.51914458A>C | CA384899985 | ACVRL1 | c.375A>C (p.Glu125Asp) c.645A>C (p.Glu215Asp) c.123A>C (p.Glu41Asp) c.687A>C (p.Glu229Asp) c.-145A>C (n.-145A>C) |