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.114679623C>A | CA341750066 | AMPD1 | c.841G>T (p.Glu281Ter) c.853G>T (p.Glu285Ter) c.636G>T (n.636G>T) n.518G>T c.940G>T (p.Glu314Ter) c.952G>T (p.Glu318Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.114679623C= | CA1190277413 | AMPD1 | c.841G= (p.Glu281=) c.853G= (p.Glu285=) c.636G= (n.636G=) n.518G= c.940G= (p.Glu314=) c.952G= (p.Glu318=) | |
| 1 | g.114679623C>G | CA341750067 | AMPD1 | c.841G>C (p.Glu281Gln) c.853G>C (p.Glu285Gln) c.636G>C (n.636G>C) n.518G>C c.940G>C (p.Glu314Gln) c.952G>C (p.Glu318Gln) | |
| 1 | g.114679623C>T | CA1020291 | AMPD1 | c.841G>A (p.Glu281Lys) c.853G>A (p.Glu285Lys) c.636G>A (n.636G>A) n.518G>A c.940G>A (p.Glu314Lys) c.952G>A (p.Glu318Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.114679624C>A | CA341750068 | AMPD1 | c.840G>T (p.Lys280Asn) c.852G>T (p.Lys284Asn) c.635G>T (n.635G>T) n.517G>T c.939G>T (p.Lys313Asn) c.951G>T (p.Lys317Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.114679624C= | CA1190277415 | AMPD1 | c.840G= (p.Lys280=) c.852G= (p.Lys284=) c.635G= (n.635G=) n.517G= c.939G= (p.Lys313=) c.951G= (p.Lys317=) | |
| 1 | g.114679624C>G | CA341750069 | AMPD1 | c.840G>C (p.Lys280Asn) c.852G>C (p.Lys284Asn) c.635G>C (n.635G>C) n.517G>C c.939G>C (p.Lys313Asn) c.951G>C (p.Lys317Asn) | |
| 1 | g.114679624C>T | CA419883285 | AMPD1 | c.840G>A (p.Lys280=) c.852G>A (p.Lys284=) c.635G>A (n.635G>A) n.517G>A c.939G>A (p.Lys313=) c.951G>A (p.Lys317=) | |
| 1 | g.114679625T>A | CA341750070 | AMPD1 | c.839A>T (p.Lys280Met) c.851A>T (p.Lys284Met) c.634A>T (n.634A>T) n.516A>T c.938A>T (p.Lys313Met) c.950A>T (p.Lys317Met) | |
| 1 | g.114679625T>C | CA341750071 | AMPD1 | c.839A>G (p.Lys280Arg) c.851A>G (p.Lys284Arg) c.634A>G (n.634A>G) n.516A>G c.938A>G (p.Lys313Arg) c.950A>G (p.Lys317Arg) | |
| 1 | g.114679625T>G | CA341750072 | AMPD1 | c.839A>C (p.Lys280Thr) c.851A>C (p.Lys284Thr) c.634A>C (n.634A>C) n.516A>C c.938A>C (p.Lys313Thr) c.950A>C (p.Lys317Thr) | |
| 1 | g.114679626T>A | CA341750075 | AMPD1 | c.838A>T (p.Lys280Ter) c.850A>T (p.Lys284Ter) c.633A>T (n.633A>T) n.515A>T c.937A>T (p.Lys313Ter) c.949A>T (p.Lys317Ter) | |
| 1 | g.114679626T>C | CA341750074 | AMPD1 | c.838A>G (p.Lys280Glu) c.850A>G (p.Lys284Glu) c.633A>G (n.633A>G) n.515A>G c.937A>G (p.Lys313Glu) c.949A>G (p.Lys317Glu) | |
| 1 | g.114679626T>G | CA341750073 | AMPD1 | c.838A>C (p.Lys280Gln) c.850A>C (p.Lys284Gln) c.633A>C (n.633A>C) n.515A>C c.937A>C (p.Lys313Gln) c.949A>C (p.Lys317Gln) | |
| 1 | g.114679626_114679627insAAAAAAT | CA1006000476 | AMPD1 | c.838_839insTTTTTTA (p.Lys280IlefsTer3) c.850_851insTTTTTTA (p.Lys284IlefsTer3) c.633_634insTTTTTTA (n.633_634insTTTTTTA) n.515_516insTTTTTTA c.937_938insTTTTTTA (p.Lys313IlefsTer3) c.949_950insTTTTTTA (p.Lys317IlefsTer3) | gnomAD v3 gnomAD v4 |
| 1 | g.114679627T>A | CA341750076 | AMPD1 | c.837A>T (p.Leu279Phe) c.849A>T (p.Leu283Phe) c.632A>T (n.632A>T) n.514A>T c.936A>T (p.Leu312Phe) c.948A>T (p.Leu316Phe) | |
| 1 | g.114679627T>C | CA419883286 | AMPD1 | c.837A>G (p.Leu279=) c.849A>G (p.Leu283=) c.632A>G (n.632A>G) n.514A>G c.936A>G (p.Leu312=) c.948A>G (p.Leu316=) | |
| 1 | g.114679627T>G | CA341750077 | AMPD1 | c.837A>C (p.Leu279Phe) c.849A>C (p.Leu283Phe) c.632A>C (n.632A>C) n.514A>C c.936A>C (p.Leu312Phe) c.948A>C (p.Leu316Phe) | |
| 1 | g.114679628A= | CA1190277417 | AMPD1 | c.836T= (p.Leu279=) c.848T= (p.Leu283=) c.631T= (n.631T=) n.513T= c.935T= (p.Leu312=) c.947T= (p.Leu316=) | |
| 1 | g.114679628A>C | CA341750078 | AMPD1 | c.836T>G (p.Leu279Ter) c.848T>G (p.Leu283Ter) c.631T>G (n.631T>G) n.513T>G c.935T>G (p.Leu312Ter) c.947T>G (p.Leu316Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.114679628A>G | CA341750079 | AMPD1 | c.836T>C (p.Leu279Ser) c.848T>C (p.Leu283Ser) c.631T>C (n.631T>C) n.513T>C c.935T>C (p.Leu312Ser) c.947T>C (p.Leu316Ser) | |
| 1 | g.114679628A>T | CA341750080 | AMPD1 | c.836T>A (p.Leu279Ter) c.848T>A (p.Leu283Ter) c.631T>A (n.631T>A) n.513T>A c.935T>A (p.Leu312Ter) c.947T>A (p.Leu316Ter) | |
| 1 | g.114679629A>C | CA341750081 | AMPD1 | c.835T>G (p.Leu279Val) c.847T>G (p.Leu283Val) c.630T>G (n.630T>G) n.512T>G c.934T>G (p.Leu312Val) c.946T>G (p.Leu316Val) | |
| 1 | g.114679629A>G | CA419883287 | AMPD1 | c.835T>C (p.Leu279=) c.847T>C (p.Leu283=) c.630T>C (n.630T>C) n.512T>C c.934T>C (p.Leu312=) c.946T>C (p.Leu316=) | |
| 1 | g.114679629A>T | CA341750082 | AMPD1 | c.835T>A (p.Leu279Ile) c.847T>A (p.Leu283Ile) c.630T>A (n.630T>A) n.512T>A c.934T>A (p.Leu312Ile) c.946T>A (p.Leu316Ile) | |
| 1 | g.114679630C>A | CA341750083 | AMPD1 | c.834G>T (p.Glu278Asp) c.846G>T (p.Glu282Asp) c.629G>T (n.629G>T) n.511G>T c.933G>T (p.Glu311Asp) c.945G>T (p.Glu315Asp) | |
| 1 | g.114679630C>G | CA341750084 | AMPD1 | c.834G>C (p.Glu278Asp) c.846G>C (p.Glu282Asp) c.629G>C (n.629G>C) n.511G>C c.933G>C (p.Glu311Asp) c.945G>C (p.Glu315Asp) | |
| 1 | g.114679630C>T | CA419883288 | AMPD1 | c.834G>A (p.Glu278=) c.846G>A (p.Glu282=) c.629G>A (n.629G>A) n.511G>A c.933G>A (p.Glu311=) c.945G>A (p.Glu315=) | |
| 1 | g.114679631T>A | CA341750085 | AMPD1 | c.833A>T (p.Glu278Val) c.845A>T (p.Glu282Val) c.628A>T (n.628A>T) n.510A>T c.932A>T (p.Glu311Val) c.944A>T (p.Glu315Val) | dbSNP |
| 1 | g.114679631T>C | CA341750086 | AMPD1 | c.833A>G (p.Glu278Gly) c.845A>G (p.Glu282Gly) c.628A>G (n.628A>G) n.510A>G c.932A>G (p.Glu311Gly) c.944A>G (p.Glu315Gly) | gnomAD v4 |
| 1 | g.114679631T>G | CA341750087 | AMPD1 | c.833A>C (p.Glu278Ala) c.845A>C (p.Glu282Ala) c.628A>C (n.628A>C) n.510A>C c.932A>C (p.Glu311Ala) c.944A>C (p.Glu315Ala) | |
| 1 | g.114679631T= | CA1190277418 | AMPD1 | c.833A= (p.Glu278=) c.845A= (p.Glu282=) c.628A= (n.628A=) n.510A= c.932A= (p.Glu311=) c.944A= (p.Glu315=) | |
| 1 | g.114679632C>A | CA341750089 | AMPD1 | c.832G>T (p.Glu278Ter) c.844G>T (p.Glu282Ter) c.627G>T (n.627G>T) n.509G>T c.931G>T (p.Glu311Ter) c.943G>T (p.Glu315Ter) | |
| 1 | g.114679632C= | CA1149037155 | AMPD1 | c.832G= (p.Glu278=) c.844G= (p.Glu282=) c.627G= (n.627G=) n.509G= c.931G= (p.Glu311=) c.943G= (p.Glu315=) | |
| 1 | g.114679632C>G | CA341750088 | AMPD1 | c.832G>C (p.Glu278Gln) c.844G>C (p.Glu282Gln) c.627G>C (n.627G>C) n.509G>C c.931G>C (p.Glu311Gln) c.943G>C (p.Glu315Gln) | |
| 1 | g.114679632C>T | CA1020292 | AMPD1 | c.832G>A (p.Glu278Lys) c.844G>A (p.Glu282Lys) c.627G>A (n.627G>A) n.509G>A c.931G>A (p.Glu311Lys) c.943G>A (p.Glu315Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.114679633G>A | CA1020293 | AMPD1 | c.831C>T (p.Asp277=) c.843C>T (p.Asp281=) c.626C>T (n.626C>T) n.508C>T c.930C>T (p.Asp310=) c.942C>T (p.Asp314=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.114679633G>C | CA341750090 | AMPD1 | c.831C>G (p.Asp277Glu) c.843C>G (p.Asp281Glu) c.626C>G (n.626C>G) n.508C>G c.930C>G (p.Asp310Glu) c.942C>G (p.Asp314Glu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.114679633G= | CA1142028671 | AMPD1 | c.831C= (p.Asp277=) c.843C= (p.Asp281=) c.626C= (n.626C=) n.508C= c.930C= (p.Asp310=) c.942C= (p.Asp314=) | |
| 1 | g.114679633G>T | CA341750091 | AMPD1 | c.831C>A (p.Asp277Glu) c.843C>A (p.Asp281Glu) c.626C>A (n.626C>A) n.508C>A c.930C>A (p.Asp310Glu) c.942C>A (p.Asp314Glu) | |
| 1 | g.114679634T>A | CA341750092 | AMPD1 | c.830A>T (p.Asp277Val) c.842A>T (p.Asp281Val) c.625A>T (n.625A>T) n.507A>T c.929A>T (p.Asp310Val) c.941A>T (p.Asp314Val) | COSMIC COSMIC |
| 1 | g.114679634T>C | CA341750093 | AMPD1 | c.830A>G (p.Asp277Gly) c.842A>G (p.Asp281Gly) c.625A>G (n.625A>G) n.507A>G c.929A>G (p.Asp310Gly) c.941A>G (p.Asp314Gly) | |
| 1 | g.114679634T>G | CA341750094 | AMPD1 | c.830A>C (p.Asp277Ala) c.842A>C (p.Asp281Ala) c.625A>C (n.625A>C) n.507A>C c.929A>C (p.Asp310Ala) c.941A>C (p.Asp314Ala) | |
| 1 | g.114679635C>A | CA341750095 | AMPD1 | c.829G>T (p.Asp277Tyr) c.841G>T (p.Asp281Tyr) c.624G>T (n.624G>T) n.506G>T c.928G>T (p.Asp310Tyr) c.940G>T (p.Asp314Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.114679635C= | CA1190277422 | AMPD1 | c.829G= (p.Asp277=) c.841G= (p.Asp281=) c.624G= (n.624G=) n.506G= c.928G= (p.Asp310=) c.940G= (p.Asp314=) | |
| 1 | g.114679635C>G | CA341750096 | AMPD1 | c.829G>C (p.Asp277His) c.841G>C (p.Asp281His) c.624G>C (n.624G>C) n.506G>C c.928G>C (p.Asp310His) c.940G>C (p.Asp314His) | |
| 1 | g.114679635C>T | CA341750097 | AMPD1 | c.829G>A (p.Asp277Asn) c.841G>A (p.Asp281Asn) c.624G>A (n.624G>A) n.506G>A c.928G>A (p.Asp310Asn) c.940G>A (p.Asp314Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.114679635_114679647delinsCCATCTCGTTAAG | CA1190277421 | AMPD1 | c.817_829delinsCTTAACGAGATGG (p.Leu273=) c.829_841delinsCTTAACGAGATGG (p.Leu277=) c.612_624delinsCTTAACGAGATGG (n.612_624delinsCTTAACGAGATGG) n.494_506delinsCTTAACGAGATGG c.916_928delinsCTTAACGAGATGG (p.Leu306=) c.928_940delinsCTTAACGAGATGG (p.Leu310=) | |
| 1 | g.114679636C>A | CA341750098 | AMPD1 | c.828G>T (p.Met276Ile) c.840G>T (p.Met280Ile) c.623G>T (n.623G>T) n.505G>T c.927G>T (p.Met309Ile) c.939G>T (p.Met313Ile) | |
| 1 | g.114679636C>G | CA341750099 | AMPD1 | c.828G>C (p.Met276Ile) c.840G>C (p.Met280Ile) c.623G>C (n.623G>C) n.505G>C c.927G>C (p.Met309Ile) c.939G>C (p.Met313Ile) |