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 |
|---|---|---|---|---|---|
| 1 | g.1804448C>A | CA337914330 | GNB1 | c.362G>T (p.Arg121Leu) c.101G>T (p.Arg34Leu) c.401G>T (p.Arg134Leu) c.269G>T (p.Arg90Leu) n.1005G>T | |
| 1 | g.1804448C= | CA1149323328 | GNB1 | c.362G= (p.Arg121=) c.101G= (p.Arg34=) c.401G= (p.Arg134=) c.269G= (p.Arg90=) n.1005G= | |
| 1 | g.1804448C>G | CA337914333 | GNB1 | c.362G>C (p.Arg121Pro) c.101G>C (p.Arg34Pro) c.401G>C (p.Arg134Pro) c.269G>C (p.Arg90Pro) n.1005G>C | |
| 1 | g.1804448C>T | CA337914338 | GNB1 | c.362G>A (p.Arg121His) c.101G>A (p.Arg34His) c.401G>A (p.Arg134His) c.269G>A (p.Arg90His) n.1005G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1804449G>A | CA337914343 | GNB1 | c.361C>T (p.Arg121Cys) c.100C>T (p.Arg34Cys) c.400C>T (p.Arg134Cys) c.268C>T (p.Arg90Cys) n.1004C>T | gnomAD v4 |
| 1 | g.1804449G>C | CA337914346 | GNB1 | c.361C>G (p.Arg121Gly) c.100C>G (p.Arg34Gly) c.400C>G (p.Arg134Gly) c.268C>G (p.Arg90Gly) n.1004C>G | |
| 1 | g.1804449G>T | CA337914348 | GNB1 | c.361C>A (p.Arg121Ser) c.100C>A (p.Arg34Ser) c.400C>A (p.Arg134Ser) c.268C>A (p.Arg90Ser) n.1004C>A | |
| 1 | g.1804450C>A | CA415404120 | GNB1 | c.360G>T (p.Val120=) c.99G>T (p.Val33=) c.399G>T (p.Val133=) c.267G>T (p.Val89=) n.1003G>T | |
| 1 | g.1804450C= | CA1149323334 | GNB1 | c.360G= (p.Val120=) c.99G= (p.Val33=) c.399G= (p.Val133=) c.267G= (p.Val89=) n.1003G= | |
| 1 | g.1804450C>G | CA415404121 | GNB1 | c.360G>C (p.Val120=) c.99G>C (p.Val33=) c.399G>C (p.Val133=) c.267G>C (p.Val89=) n.1003G>C | |
| 1 | g.1804450C>T | CA16827538 | GNB1 | c.360G>A (p.Val120=) c.99G>A (p.Val33=) c.399G>A (p.Val133=) c.267G>A (p.Val89=) n.1003G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.1804451A>C | CA337914352 | GNB1 | c.359T>G (p.Val120Gly) c.98T>G (p.Val33Gly) c.398T>G (p.Val133Gly) c.266T>G (p.Val89Gly) n.1002T>G | |
| 1 | g.1804451A>G | CA337914355 | GNB1 | c.359T>C (p.Val120Ala) c.98T>C (p.Val33Ala) c.398T>C (p.Val133Ala) c.266T>C (p.Val89Ala) n.1002T>C | |
| 1 | g.1804451A>T | CA337914358 | GNB1 | c.359T>A (p.Val120Glu) c.98T>A (p.Val33Glu) c.398T>A (p.Val133Glu) c.266T>A (p.Val89Glu) n.1002T>A | |
| 1 | g.1804452C>A | CA337914365 | GNB1 | c.358G>T (p.Val120Leu) c.97G>T (p.Val33Leu) c.397G>T (p.Val133Leu) c.265G>T (p.Val89Leu) n.1001G>T | |
| 1 | g.1804452C= | CA1149323336 | GNB1 | c.358G= (p.Val120=) c.97G= (p.Val33=) c.397G= (p.Val133=) c.265G= (p.Val89=) n.1001G= | |
| 1 | g.1804452C>G | CA337914369 | GNB1 | c.358G>C (p.Val120Leu) c.97G>C (p.Val33Leu) c.397G>C (p.Val133Leu) c.265G>C (p.Val89Leu) n.1001G>C | |
| 1 | g.1804452C>T | CA532044 | GNB1 | c.358G>A (p.Val120Met) c.97G>A (p.Val33Met) c.397G>A (p.Val133Met) c.265G>A (p.Val89Met) n.1001G>A | dbSNP ExAC gnomAD v4 |
| 1 | g.1804453G>A | CA415404122 | GNB1 | c.357C>T (p.Asn119=) c.96C>T (p.Asn32=) c.396C>T (p.Asn132=) c.264C>T (p.Asn88=) n.1000C>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.1804453G>C | CA337914372 | GNB1 | c.357C>G (p.Asn119Lys) c.96C>G (p.Asn32Lys) c.396C>G (p.Asn132Lys) c.264C>G (p.Asn88Lys) n.1000C>G | |
| 1 | g.1804453G= | CA1149323339 | GNB1 | c.357C= (p.Asn119=) c.96C= (p.Asn32=) c.396C= (p.Asn132=) c.264C= (p.Asn88=) n.1000C= | |
| 1 | g.1804453G>T | CA337914374 | GNB1 | c.357C>A (p.Asn119Lys) c.96C>A (p.Asn32Lys) c.396C>A (p.Asn132Lys) c.264C>A (p.Asn88Lys) n.1000C>A | |
| 1 | g.1804454T>A | CA337914388 | GNB1 | c.356A>T (p.Asn119Ile) c.95A>T (p.Asn32Ile) c.395A>T (p.Asn132Ile) c.263A>T (p.Asn88Ile) n.999A>T | |
| 1 | g.1804454T>C | CA337914391 | GNB1 | c.356A>G (p.Asn119Ser) c.95A>G (p.Asn32Ser) c.395A>G (p.Asn132Ser) c.263A>G (p.Asn88Ser) n.999A>G | dbSNP gnomAD v4 |
| 1 | g.1804454T>G | CA337914394 | GNB1 | c.356A>C (p.Asn119Thr) c.95A>C (p.Asn32Thr) c.395A>C (p.Asn132Thr) c.263A>C (p.Asn88Thr) n.999A>C | |
| 1 | g.1804454T= | CA1149323341 | GNB1 | c.356A= (p.Asn119=) c.95A= (p.Asn32=) c.395A= (p.Asn132=) c.263A= (p.Asn88=) n.999A= | |
| 1 | g.1804455T>A | CA337914405 | GNB1 | c.355A>T (p.Asn119Tyr) c.94A>T (p.Asn32Tyr) c.394A>T (p.Asn132Tyr) c.262A>T (p.Asn88Tyr) n.998A>T | |
| 1 | g.1804455T>C | CA337914400 | GNB1 | c.355A>G (p.Asn119Asp) c.94A>G (p.Asn32Asp) c.394A>G (p.Asn132Asp) c.262A>G (p.Asn88Asp) n.998A>G | |
| 1 | g.1804455T>G | CA337914403 | GNB1 | c.355A>C (p.Asn119His) c.94A>C (p.Asn32His) c.394A>C (p.Asn132His) c.262A>C (p.Asn88His) n.998A>C | |
| 1 | g.1804456C>A | CA415404124 | GNB1 | c.354G>T (p.Gly118=) c.93G>T (p.Gly31=) c.393G>T (p.Gly131=) c.261G>T (p.Gly87=) n.997G>T | |
| 1 | g.1804456C>G | CA415404125 | GNB1 | c.354G>C (p.Gly118=) c.93G>C (p.Gly31=) c.393G>C (p.Gly131=) c.261G>C (p.Gly87=) n.997G>C | |
| 1 | g.1804456C>T | CA415404123 | GNB1 | c.354G>A (p.Gly118=) c.93G>A (p.Gly31=) c.393G>A (p.Gly131=) c.261G>A (p.Gly87=) n.997G>A | |
| 1 | g.1804457C>A | CA337914409 | GNB1 | c.353G>T (p.Gly118Val) c.92G>T (p.Gly31Val) c.392G>T (p.Gly131Val) c.260G>T (p.Gly87Val) n.996G>T | |
| 1 | g.1804457C>G | CA337914413 | GNB1 | c.353G>C (p.Gly118Ala) c.92G>C (p.Gly31Ala) c.392G>C (p.Gly131Ala) c.260G>C (p.Gly87Ala) n.996G>C | |
| 1 | g.1804457C>T | CA337914417 | GNB1 | c.353G>A (p.Gly118Glu) c.92G>A (p.Gly31Glu) c.392G>A (p.Gly131Glu) c.260G>A (p.Gly87Glu) n.996G>A | |
| 1 | g.1804458C>A | CA337914422 | GNB1 | c.352G>T (p.Gly118Trp) c.91G>T (p.Gly31Trp) c.391G>T (p.Gly131Trp) c.259G>T (p.Gly87Trp) n.995G>T | |
| 1 | g.1804458C>G | CA337914424 | GNB1 | c.352G>C (p.Gly118Arg) c.91G>C (p.Gly31Arg) c.391G>C (p.Gly131Arg) c.259G>C (p.Gly87Arg) n.995G>C | |
| 1 | g.1804458C>T | CA337914427 | GNB1 | c.352G>A (p.Gly118Arg) c.91G>A (p.Gly31Arg) c.391G>A (p.Gly131Arg) c.259G>A (p.Gly87Arg) n.995G>A | |
| 1 | g.1804459C>A | CA337914441 | GNB1 | c.351G>T (p.Glu117Asp) c.90G>T (p.Glu30Asp) c.390G>T (p.Glu130Asp) c.258G>T (p.Glu86Asp) n.994G>T | |
| 1 | g.1804459C= | CA1149323342 | GNB1 | c.351G= (p.Glu117=) c.90G= (p.Glu30=) c.390G= (p.Glu130=) c.258G= (p.Glu86=) n.994G= | |
| 1 | g.1804459C>G | CA337914431 | GNB1 | c.351G>C (p.Glu117Asp) c.90G>C (p.Glu30Asp) c.390G>C (p.Glu130Asp) c.258G>C (p.Glu86Asp) n.994G>C | |
| 1 | g.1804459C>T | CA415404126 | GNB1 | c.351G>A (p.Glu117=) c.90G>A (p.Glu30=) c.390G>A (p.Glu130=) c.258G>A (p.Glu86=) n.994G>A | dbSNP |
| 1 | g.1804460T>A | CA337914447 | GNB1 | c.350A>T (p.Glu117Val) c.89A>T (p.Glu30Val) c.389A>T (p.Glu130Val) c.257A>T (p.Glu86Val) n.993A>T | |
| 1 | g.1804460T>C | CA337914448 | GNB1 | c.350A>G (p.Glu117Gly) c.89A>G (p.Glu30Gly) c.389A>G (p.Glu130Gly) c.257A>G (p.Glu86Gly) n.993A>G | |
| 1 | g.1804460T>G | CA337914451 | GNB1 | c.350A>C (p.Glu117Ala) c.89A>C (p.Glu30Ala) c.389A>C (p.Glu130Ala) c.257A>C (p.Glu86Ala) n.993A>C | |
| 1 | g.1804461C>A | CA337914455 | GNB1 | c.349G>T (p.Glu117Ter) c.88G>T (p.Glu30Ter) c.388G>T (p.Glu130Ter) c.256G>T (p.Glu86Ter) n.992G>T | |
| 1 | g.1804461C= | CA1149323343 | GNB1 | c.349G= (p.Glu117=) c.88G= (p.Glu30=) c.388G= (p.Glu130=) c.256G= (p.Glu86=) n.992G= | |
| 1 | g.1804461C>G | CA337914459 | GNB1 | c.349G>C (p.Glu117Gln) c.88G>C (p.Glu30Gln) c.388G>C (p.Glu130Gln) c.256G>C (p.Glu86Gln) n.992G>C | |
| 1 | g.1804461C>T | CA337914460 | GNB1 | c.349G>A (p.Glu117Lys) c.88G>A (p.Glu30Lys) c.388G>A (p.Glu130Lys) c.256G>A (p.Glu86Lys) n.992G>A | ClinVar dbSNP |
| 1 | g.1804462A>C | CA415404127 | GNB1 | c.348T>G (p.Arg116=) c.87T>G (p.Arg29=) c.387T>G (p.Arg129=) c.255T>G (p.Arg85=) n.991T>G |