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.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) | |
| 1 | g.114679636C>T | CA341750100 | AMPD1 | c.828G>A (p.Met276Ile) c.840G>A (p.Met280Ile) c.623G>A (n.623G>A) n.505G>A c.927G>A (p.Met309Ile) c.939G>A (p.Met313Ile) | |
| 1 | g.114679641_114679652del | CA525418812 | AMPD1 | c.817_828del (p.Leu273_Met276del) c.829_840del (p.Leu277_Met280del) c.612_623del (n.612_623del) n.494_505del c.916_927del (p.Leu306_Met309del) c.928_939del (p.Leu310_Met313del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.114679637A= | CA1190277424 | AMPD1 | c.827T= (p.Met276=) c.839T= (p.Met280=) c.622T= (n.622T=) n.504T= c.926T= (p.Met309=) c.938T= (p.Met313=) | |
| 1 | g.114679637A>C | CA341750102 | AMPD1 | c.827T>G (p.Met276Arg) c.839T>G (p.Met280Arg) c.622T>G (n.622T>G) n.504T>G c.926T>G (p.Met309Arg) c.938T>G (p.Met313Arg) | |
| 1 | g.114679637A>G | CA341750103 | AMPD1 | c.827T>C (p.Met276Thr) c.839T>C (p.Met280Thr) c.622T>C (n.622T>C) n.504T>C c.926T>C (p.Met309Thr) c.938T>C (p.Met313Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.114679637A>T | CA341750101 | AMPD1 | c.827T>A (p.Met276Lys) c.839T>A (p.Met280Lys) c.622T>A (n.622T>A) n.504T>A c.926T>A (p.Met309Lys) c.938T>A (p.Met313Lys) | |
| 1 | g.114679638T>A | CA341750105 | AMPD1 | c.826A>T (p.Met276Leu) c.838A>T (p.Met280Leu) c.621A>T (n.621A>T) n.503A>T c.925A>T (p.Met309Leu) c.937A>T (p.Met313Leu) | |
| 1 | g.114679638T>C | CA341750104 | AMPD1 | c.826A>G (p.Met276Val) c.838A>G (p.Met280Val) c.621A>G (n.621A>G) n.503A>G c.925A>G (p.Met309Val) c.937A>G (p.Met313Val) | dbSNP |
| 1 | g.114679638T>G | CA341750106 | AMPD1 | c.826A>C (p.Met276Leu) c.838A>C (p.Met280Leu) c.621A>C (n.621A>C) n.503A>C c.925A>C (p.Met309Leu) c.937A>C (p.Met313Leu) | |
| 1 | g.114679638T= | CA1190277425 | AMPD1 | c.826A= (p.Met276=) c.838A= (p.Met280=) c.621A= (n.621A=) n.503A= c.925A= (p.Met309=) c.937A= (p.Met313=) | |
| 1 | g.114679639C>A | CA341750107 | AMPD1 | c.825G>T (p.Glu275Asp) c.837G>T (p.Glu279Asp) c.620G>T (n.620G>T) n.502G>T c.924G>T (p.Glu308Asp) c.936G>T (p.Glu312Asp) | |
| 1 | g.114679639C= | CA1190277427 | AMPD1 | c.825G= (p.Glu275=) c.837G= (p.Glu279=) c.620G= (n.620G=) n.502G= c.924G= (p.Glu308=) c.936G= (p.Glu312=) | |
| 1 | g.114679639C>G | CA341750108 | AMPD1 | c.825G>C (p.Glu275Asp) c.837G>C (p.Glu279Asp) c.620G>C (n.620G>C) n.502G>C c.924G>C (p.Glu308Asp) c.936G>C (p.Glu312Asp) | |
| 1 | g.114679639C>T | CA419883289 | AMPD1 | c.825G>A (p.Glu275=) c.837G>A (p.Glu279=) c.620G>A (n.620G>A) n.502G>A c.924G>A (p.Glu308=) c.936G>A (p.Glu312=) | dbSNP |
| 1 | g.114679640T>A | CA341750109 | AMPD1 | c.824A>T (p.Glu275Val) c.836A>T (p.Glu279Val) c.619A>T (n.619A>T) n.501A>T c.923A>T (p.Glu308Val) c.935A>T (p.Glu312Val) |