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.101770519G>A | CA223747 | GNPTAB | c.1000C>T (p.Arg334Ter) c.919C>T (p.Arg307Ter) c.784C>T (p.Arg262Ter) c.-228C>T (n.-228C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.101770519G>C | CA386303250 | GNPTAB | c.1000C>G (p.Arg334Gly) c.919C>G (p.Arg307Gly) c.784C>G (p.Arg262Gly) c.-228C>G (n.-228C>G) | |
| 12 | g.101770519G= | CA2058958020 | GNPTAB | c.1000C= (p.Arg334=) c.919C= (p.Arg307=) c.784C= (p.Arg262=) c.-228C= (n.-228C=) | |
| 12 | g.101770519G>T | CA481320757 | GNPTAB | c.1000C>A (p.Arg334=) c.919C>A (p.Arg307=) c.784C>A (p.Arg262=) c.-228C>A (n.-228C>A) | gnomAD v4 |
| 12 | g.101770520C>A | CA386303251 | GNPTAB | c.999G>T (p.Leu333Phe) c.918G>T (p.Leu306Phe) c.783G>T (p.Leu261Phe) c.-229G>T (n.-229G>T) | |
| 12 | g.101770520C>G | CA386303252 | GNPTAB | c.999G>C (p.Leu333Phe) c.918G>C (p.Leu306Phe) c.783G>C (p.Leu261Phe) c.-229G>C (n.-229G>C) | |
| 12 | g.101770520C>T | CA481320758 | GNPTAB | c.999G>A (p.Leu333=) c.918G>A (p.Leu306=) c.783G>A (p.Leu261=) c.-229G>A (n.-229G>A) | |
| 12 | g.101770521A>C | CA386303253 | GNPTAB | c.998T>G (p.Leu333Trp) c.917T>G (p.Leu306Trp) c.782T>G (p.Leu261Trp) c.-230T>G (n.-230T>G) | |
| 12 | g.101770521A>G | CA386303254 | GNPTAB | c.998T>C (p.Leu333Ser) c.917T>C (p.Leu306Ser) c.782T>C (p.Leu261Ser) c.-230T>C (n.-230T>C) | |
| 12 | g.101770521A>T | CA386303255 | GNPTAB | c.998T>A (p.Leu333Ter) c.917T>A (p.Leu306Ter) c.782T>A (p.Leu261Ter) c.-230T>A (n.-230T>A) | ClinVar |
| 12 | g.101770522A= | CA2058958021 | GNPTAB | c.997T= (p.Leu333=) c.916T= (p.Leu306=) c.781T= (p.Leu261=) c.-231T= (n.-231T=) | |
| 12 | g.101770522A>C | CA386303256 | GNPTAB | c.997T>G (p.Leu333Val) c.916T>G (p.Leu306Val) c.781T>G (p.Leu261Val) c.-231T>G (n.-231T>G) | |
| 12 | g.101770522A>G | CA6746739 | GNPTAB | c.997T>C (p.Leu333=) c.916T>C (p.Leu306=) c.781T>C (p.Leu261=) c.-231T>C (n.-231T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101770522A>T | CA386303257 | GNPTAB | c.997T>A (p.Leu333Met) c.916T>A (p.Leu306Met) c.781T>A (p.Leu261Met) c.-231T>A (n.-231T>A) | |
| 12 | g.101770523_101770525del | CA2620452167 | GNPTAB | c.995_997del (p.Ser332del) c.914_916del (p.Ser305del) c.779_781del (p.Ser260del) c.-233_-231del (n.-233_-231del) | gnomAD v4 |
| 12 | g.101770523T>A | CA481320759 | GNPTAB | c.996A>T (p.Ser332=) c.915A>T (p.Ser305=) c.780A>T (p.Ser260=) c.-232A>T (n.-232A>T) | |
| 12 | g.101770523T>C | CA481320760 | GNPTAB | c.996A>G (p.Ser332=) c.915A>G (p.Ser305=) c.780A>G (p.Ser260=) c.-232A>G (n.-232A>G) | gnomAD v4 |
| 12 | g.101770523T>G | CA481320761 | GNPTAB | c.996A>C (p.Ser332=) c.915A>C (p.Ser305=) c.780A>C (p.Ser260=) c.-232A>C (n.-232A>C) | |
| 12 | g.101770524G>A | CA386303258 | GNPTAB | c.995C>T (p.Ser332Leu) c.914C>T (p.Ser305Leu) c.779C>T (p.Ser260Leu) c.-233C>T (n.-233C>T) | |
| 12 | g.101770524G>C | CA386303259 | GNPTAB | c.995C>G (p.Ser332Ter) c.914C>G (p.Ser305Ter) c.779C>G (p.Ser260Ter) c.-233C>G (n.-233C>G) | |
| 12 | g.101770524G>T | CA386303260 | GNPTAB | c.995C>A (p.Ser332Ter) c.914C>A (p.Ser305Ter) c.779C>A (p.Ser260Ter) c.-233C>A (n.-233C>A) | |
| 12 | g.101770525A= | CA2058958022 | GNPTAB | c.994T= (p.Ser332=) c.913T= (p.Ser305=) c.778T= (p.Ser260=) c.-234T= (n.-234T=) | |
| 12 | g.101770525A>C | CA386303261 | GNPTAB | c.994T>G (p.Ser332Ala) c.913T>G (p.Ser305Ala) c.778T>G (p.Ser260Ala) c.-234T>G (n.-234T>G) | |
| 12 | g.101770525A>G | CA386303262 | GNPTAB | c.994T>C (p.Ser332Pro) c.913T>C (p.Ser305Pro) c.778T>C (p.Ser260Pro) c.-234T>C (n.-234T>C) | dbSNP |
| 12 | g.101770525A>T | CA386303263 | GNPTAB | c.994T>A (p.Ser332Thr) c.913T>A (p.Ser305Thr) c.778T>A (p.Ser260Thr) c.-234T>A (n.-234T>A) | gnomAD v4 |
| 12 | g.101770526G>A | CA481320762 | GNPTAB | c.993C>T (p.Tyr331=) c.912C>T (p.Tyr304=) c.777C>T (p.Tyr259=) c.-235C>T (n.-235C>T) | |
| 12 | g.101770526G>C | CA386303264 | GNPTAB | c.993C>G (p.Tyr331Ter) c.912C>G (p.Tyr304Ter) c.777C>G (p.Tyr259Ter) c.-235C>G (n.-235C>G) | |
| 12 | g.101770526G= | CA2058958023 | GNPTAB | c.993C= (p.Tyr331=) c.912C= (p.Tyr304=) c.777C= (p.Tyr259=) c.-235C= (n.-235C=) | |
| 12 | g.101770526G>T | CA386303265 | GNPTAB | c.993C>A (p.Tyr331Ter) c.912C>A (p.Tyr304Ter) c.777C>A (p.Tyr259Ter) c.-235C>A (n.-235C>A) | ClinVar dbSNP |
| 12 | g.101770527T>A | CA386303266 | GNPTAB | c.992A>T (p.Tyr331Phe) c.911A>T (p.Tyr304Phe) c.776A>T (p.Tyr259Phe) c.-236A>T (n.-236A>T) | |
| 12 | g.101770527T>C | CA386303267 | GNPTAB | c.992A>G (p.Tyr331Cys) c.911A>G (p.Tyr304Cys) c.776A>G (p.Tyr259Cys) c.-236A>G (n.-236A>G) | |
| 12 | g.101770527T>G | CA386303268 | GNPTAB | c.992A>C (p.Tyr331Ser) c.911A>C (p.Tyr304Ser) c.776A>C (p.Tyr259Ser) c.-236A>C (n.-236A>C) | |
| 12 | g.101770527_101770528delinsTA | CA2058958024 | GNPTAB | c.991_992delinsTA (p.Tyr331=) c.910_911delinsTA (p.Tyr304=) c.775_776delinsTA (p.Tyr259=) c.-237_-236delinsTA (n.-237_-236delinsTA) | |
| 12 | g.101770528del | CA1139662833 | GNPTAB | c.991del (p.Tyr331ThrfsTer28) c.910del (p.Tyr304ThrfsTer28) c.775del (p.Tyr259ThrfsTer28) c.-237del (n.-237del) | ClinVar dbSNP |
| 12 | g.101770528A>C | CA386303271 | GNPTAB | c.991T>G (p.Tyr331Asp) c.910T>G (p.Tyr304Asp) c.775T>G (p.Tyr259Asp) c.-237T>G (n.-237T>G) | |
| 12 | g.101770528A>G | CA386303270 | GNPTAB | c.991T>C (p.Tyr331His) c.910T>C (p.Tyr304His) c.775T>C (p.Tyr259His) c.-237T>C (n.-237T>C) | |
| 12 | g.101770528A>T | CA386303269 | GNPTAB | c.991T>A (p.Tyr331Asn) c.910T>A (p.Tyr304Asn) c.775T>A (p.Tyr259Asn) c.-237T>A (n.-237T>A) | |
| 12 | g.101770529C>A | CA386303272 | GNPTAB | c.990G>T (p.Arg330Ser) c.909G>T (p.Arg303Ser) c.774G>T (p.Arg258Ser) c.-238G>T (n.-238G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101770529C= | CA2058958025 | GNPTAB | c.990G= (p.Arg330=) c.909G= (p.Arg303=) c.774G= (p.Arg258=) c.-238G= (n.-238G=) | |
| 12 | g.101770529C>G | CA386303273 | GNPTAB | c.990G>C (p.Arg330Ser) c.909G>C (p.Arg303Ser) c.774G>C (p.Arg258Ser) c.-238G>C (n.-238G>C) | |
| 12 | g.101770529C>T | CA6746740 | GNPTAB | c.990G>A (p.Arg330=) c.909G>A (p.Arg303=) c.774G>A (p.Arg258=) c.-238G>A (n.-238G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101770530C>A | CA386303274 | GNPTAB | c.989G>T (p.Arg330Met) c.908G>T (p.Arg303Met) c.773G>T (p.Arg258Met) c.-239G>T (n.-239G>T) | |
| 12 | g.101770530C>G | CA386303275 | GNPTAB | c.989G>C (p.Arg330Thr) c.908G>C (p.Arg303Thr) c.773G>C (p.Arg258Thr) c.-239G>C (n.-239G>C) | gnomAD v4 |
| 12 | g.101770530C>T | CA386303276 | GNPTAB | c.989G>A (p.Arg330Lys) c.908G>A (p.Arg303Lys) c.773G>A (p.Arg258Lys) c.-239G>A (n.-239G>A) | |
| 12 | g.101770531T>A | CA386303277 | GNPTAB | c.988A>T (p.Arg330Trp) c.907A>T (p.Arg303Trp) c.772A>T (p.Arg258Trp) c.-240A>T (n.-240A>T) | |
| 12 | g.101770531T>C | CA386303278 | GNPTAB | c.988A>G (p.Arg330Gly) c.907A>G (p.Arg303Gly) c.772A>G (p.Arg258Gly) c.-240A>G (n.-240A>G) | |
| 12 | g.101770531T>G | CA481320763 | GNPTAB | c.988A>C (p.Arg330=) c.907A>C (p.Arg303=) c.772A>C (p.Arg258=) c.-240A>C (n.-240A>C) | |
| 12 | g.101770532C>A | CA481320765 | GNPTAB | c.987G>T (p.Leu329=) c.906G>T (p.Leu302=) c.771G>T (p.Leu257=) c.-241G>T (n.-241G>T) | |
| 12 | g.101770532C>G | CA481320764 | GNPTAB | c.987G>C (p.Leu329=) c.906G>C (p.Leu302=) c.771G>C (p.Leu257=) c.-241G>C (n.-241G>C) | |
| 12 | g.101770532C>T | CA481320766 | GNPTAB | c.987G>A (p.Leu329=) c.906G>A (p.Leu302=) c.771G>A (p.Leu257=) c.-241G>A (n.-241G>A) |