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 |
|---|---|---|---|---|---|
| X | g.67717485C>A | CA516970328 | AR | c.*529C>A (n.*529C>A) c.2181C>A (p.Arg727=) c.808C>A (n.808C>A) c.2173+5796C>A (n.2173+5796C>A) c.585C>A (p.Arg195=) c.1611C>A (p.Arg537=) | dbSNP |
| X | g.67717485C>G | CA516970329 | AR | c.*529C>G (n.*529C>G) c.2181C>G (p.Arg727=) c.808C>G (n.808C>G) c.2173+5796C>G (n.2173+5796C>G) c.585C>G (p.Arg195=) c.1611C>G (p.Arg537=) | dbSNP |
| X | g.67717485C>T | CA516970330 | AR | c.*529C>T (n.*529C>T) c.2181C>T (p.Arg727=) c.808C>T (n.808C>T) c.2173+5796C>T (n.2173+5796C>T) c.585C>T (p.Arg195=) c.1611C>T (p.Arg537=) | dbSNP |
| X | g.67717486A>C | CA413424287 | AR | c.*530A>C (n.*530A>C) c.2182A>C (p.Asn728His) c.809A>C (n.809A>C) c.2173+5797A>C (n.2173+5797A>C) c.586A>C (p.Asn196His) c.1612A>C (p.Asn538His) | dbSNP |
| X | g.67717486A>G | CA413424289 | AR | c.*530A>G (n.*530A>G) c.2182A>G (p.Asn728Asp) c.809A>G (n.809A>G) c.2173+5797A>G (n.2173+5797A>G) c.586A>G (p.Asn196Asp) c.1612A>G (p.Asn538Asp) | dbSNP |
| X | g.67717486A>T | CA413424290 | AR | c.*530A>T (n.*530A>T) c.2182A>T (p.Asn728Tyr) c.809A>T (n.809A>T) c.2173+5797A>T (n.2173+5797A>T) c.586A>T (p.Asn196Tyr) c.1612A>T (p.Asn538Tyr) | |
| X | g.67717487del | CA2739290500 | AR | c.*531del (n.*531del) c.2183del (p.Asn728ThrfsTer?) c.810del (n.810del) c.2173+5798del (n.2173+5798del) c.587del (p.Asn196ThrfsTer?) c.1613del (p.Asn538ThrfsTer?) | |
| X | g.67717487A= | CA2435132627 | AR | c.*531A= (n.*531A=) c.2183A= (p.Asn728=) c.810A= (n.810A=) c.2173+5798A= (n.2173+5798A=) c.587A= (p.Asn196=) c.1613A= (p.Asn538=) | |
| X | g.67717487A>C | CA413424292 | AR | c.*531A>C (n.*531A>C) c.2183A>C (p.Asn728Thr) c.810A>C (n.810A>C) c.2173+5798A>C (n.2173+5798A>C) c.587A>C (p.Asn196Thr) c.1613A>C (p.Asn538Thr) | dbSNP |
| X | g.67717487A>G | CA10436600 | AR | c.*531A>G (n.*531A>G) c.2183A>G (p.Asn728Ser) c.810A>G (n.810A>G) c.2173+5798A>G (n.2173+5798A>G) c.587A>G (p.Asn196Ser) c.1613A>G (p.Asn538Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67717487A>T | CA413424295 | AR | c.*531A>T (n.*531A>T) c.2183A>T (p.Asn728Ile) c.810A>T (n.810A>T) c.2173+5798A>T (n.2173+5798A>T) c.587A>T (p.Asn196Ile) c.1613A>T (p.Asn538Ile) | dbSNP gnomAD v4 |
| X | g.67717488C>A | CA413424299 | AR | c.*532C>A (n.*532C>A) c.2184C>A (p.Asn728Lys) c.811C>A (n.811C>A) c.2173+5799C>A (n.2173+5799C>A) c.588C>A (p.Asn196Lys) c.1614C>A (p.Asn538Lys) | |
| X | g.67717488C= | CA2435132628 | AR | c.*532C= (n.*532C=) c.2184C= (p.Asn728=) c.811C= (n.811C=) c.2173+5799C= (n.2173+5799C=) c.588C= (p.Asn196=) c.1614C= (p.Asn538=) | |
| X | g.67717488C>G | CA10436601 | AR | c.*532C>G (n.*532C>G) c.2184C>G (p.Asn728Lys) c.811C>G (n.811C>G) c.2173+5799C>G (n.2173+5799C>G) c.588C>G (p.Asn196Lys) c.1614C>G (p.Asn538Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.67717488C>T | CA516970331 | AR | c.*532C>T (n.*532C>T) c.2184C>T (p.Asn728=) c.811C>T (n.811C>T) c.2173+5799C>T (n.2173+5799C>T) c.588C>T (p.Asn196=) c.1614C>T (p.Asn538=) | |
| X | g.67717489T>A | CA413424304 | AR | c.*533T>A (n.*533T>A) c.2185T>A (p.Leu729Ile) c.812T>A (n.812T>A) c.2173+5800T>A (n.2173+5800T>A) c.589T>A (p.Leu197Ile) c.1615T>A (p.Leu539Ile) | dbSNP COSMIC |
| X | g.67717489T>C | CA516970332 | AR | c.*533T>C (n.*533T>C) c.2185T>C (p.Leu729=) c.812T>C (n.812T>C) c.2173+5800T>C (n.2173+5800T>C) c.589T>C (p.Leu197=) c.1615T>C (p.Leu539=) | dbSNP |
| X | g.67717489T>G | CA413424307 | AR | c.*533T>G (n.*533T>G) c.2185T>G (p.Leu729Val) c.812T>G (n.812T>G) c.2173+5800T>G (n.2173+5800T>G) c.589T>G (p.Leu197Val) c.1615T>G (p.Leu539Val) | |
| X | g.67717490T>A | CA413424309 | AR | c.*534T>A (n.*534T>A) c.2186T>A (p.Leu729Ter) c.813T>A (n.813T>A) c.2173+5801T>A (n.2173+5801T>A) c.590T>A (p.Leu197Ter) c.1616T>A (p.Leu539Ter) | |
| X | g.67717490T>C | CA413424313 | AR | c.*534T>C (n.*534T>C) c.2186T>C (p.Leu729Ser) c.813T>C (n.813T>C) c.2173+5801T>C (n.2173+5801T>C) c.590T>C (p.Leu197Ser) c.1616T>C (p.Leu539Ser) | ClinVar |
| X | g.67717490T>G | CA413424311 | AR | c.*534T>G (n.*534T>G) c.2186T>G (p.Leu729Ter) c.813T>G (n.813T>G) c.2173+5801T>G (n.2173+5801T>G) c.590T>G (p.Leu197Ter) c.1616T>G (p.Leu539Ter) | |
| X | g.67717491del | CA2738703906 | AR | c.*535del (n.*535del) c.2187del (p.Leu729PhefsTer?) c.814del (n.814del) c.2173+5802del (n.2173+5802del) c.591del (p.Leu197PhefsTer?) c.1617del (p.Leu539PhefsTer?) | dbSNP |
| X | g.67717491A>C | CA413424315 | AR | c.*535A>C (n.*535A>C) c.2187A>C (p.Leu729Phe) c.814A>C (n.814A>C) c.2173+5802A>C (n.2173+5802A>C) c.591A>C (p.Leu197Phe) c.1617A>C (p.Leu539Phe) | dbSNP |
| X | g.67717491A>G | CA516970334 | AR | c.*535A>G (n.*535A>G) c.2187A>G (p.Leu729=) c.814A>G (n.814A>G) c.2173+5802A>G (n.2173+5802A>G) c.591A>G (p.Leu197=) c.1617A>G (p.Leu539=) | dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.67717491A>T | CA413424317 | AR | c.*535A>T (n.*535A>T) c.2187A>T (p.Leu729Phe) c.814A>T (n.814A>T) c.2173+5802A>T (n.2173+5802A>T) c.591A>T (p.Leu197Phe) c.1617A>T (p.Leu539Phe) | dbSNP |
| X | g.67717492C>A | CA413424320 | AR | c.*536C>A (n.*536C>A) c.2188C>A (p.His730Asn) c.815C>A (n.815C>A) c.2173+5803C>A (n.2173+5803C>A) c.592C>A (p.His198Asn) c.1618C>A (p.His540Asn) | |
| X | g.67717492C>G | CA413424324 | AR | c.*536C>G (n.*536C>G) c.2188C>G (p.His730Asp) c.815C>G (n.815C>G) c.2173+5803C>G (n.2173+5803C>G) c.592C>G (p.His198Asp) c.1618C>G (p.His540Asp) | dbSNP |
| X | g.67717492C>T | CA413424322 | AR | c.*536C>T (n.*536C>T) c.2188C>T (p.His730Tyr) c.815C>T (n.815C>T) c.2173+5803C>T (n.2173+5803C>T) c.592C>T (p.His198Tyr) c.1618C>T (p.His540Tyr) | dbSNP |
| X | g.67717493A>C | CA413424327 | AR | c.*537A>C (n.*537A>C) c.2189A>C (p.His730Pro) c.816A>C (n.816A>C) c.2173+5804A>C (n.2173+5804A>C) c.593A>C (p.His198Pro) c.1619A>C (p.His540Pro) | gnomAD v4 |
| X | g.67717493A>G | CA413424329 | AR | c.*537A>G (n.*537A>G) c.2189A>G (p.His730Arg) c.816A>G (n.816A>G) c.2173+5804A>G (n.2173+5804A>G) c.593A>G (p.His198Arg) c.1619A>G (p.His540Arg) | |
| X | g.67717493A>T | CA413424331 | AR | c.*537A>T (n.*537A>T) c.2189A>T (p.His730Leu) c.816A>T (n.816A>T) c.2173+5804A>T (n.2173+5804A>T) c.593A>T (p.His198Leu) c.1619A>T (p.His540Leu) | dbSNP |
| X | g.67717495_67717503del | CA2580101282 | AR | c.*539_*547del (n.*539_*547del) c.2191_2199del (p.Val731_Asp733del) c.818_826del (n.818_826del) c.2173+5806_2173+5814del (n.2173+5806_2173+5814del) c.595_603del (p.Val199_Asp201del) c.1621_1629del (p.Val541_Asp543del) | ClinVar |
| X | g.67717494C>A | CA413424332 | AR | c.*538C>A (n.*538C>A) c.2190C>A (p.His730Gln) c.817C>A (n.817C>A) c.2173+5805C>A (n.2173+5805C>A) c.594C>A (p.His198Gln) c.1620C>A (p.His540Gln) | gnomAD v4 |
| X | g.67717494C= | CA2435132629 | AR | c.*538C= (n.*538C=) c.2190C= (p.His730=) c.817C= (n.817C=) c.2173+5805C= (n.2173+5805C=) c.594C= (p.His198=) c.1620C= (p.His540=) | |
| X | g.67717494C>G | CA413424334 | AR | c.*538C>G (n.*538C>G) c.2190C>G (p.His730Gln) c.817C>G (n.817C>G) c.2173+5805C>G (n.2173+5805C>G) c.594C>G (p.His198Gln) c.1620C>G (p.His540Gln) | dbSNP |
| X | g.67717494C>T | CA10436602 | AR | c.*538C>T (n.*538C>T) c.2190C>T (p.His730=) c.817C>T (n.817C>T) c.2173+5805C>T (n.2173+5805C>T) c.594C>T (p.His198=) c.1620C>T (p.His540=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67717495G>A | CA120709 | AR | c.*539G>A (n.*539G>A) c.2191G>A (p.Val731Met) c.818G>A (n.818G>A) c.2173+5806G>A (n.2173+5806G>A) c.595G>A (p.Val199Met) c.1621G>A (p.Val541Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.67717495G>C | CA413424340 | AR | c.*539G>C (n.*539G>C) c.2191G>C (p.Val731Leu) c.818G>C (n.818G>C) c.2173+5806G>C (n.2173+5806G>C) c.595G>C (p.Val199Leu) c.1621G>C (p.Val541Leu) | dbSNP |
| X | g.67717495G= | CA2435132630 | AR | c.*539G= (n.*539G=) c.2191G= (p.Val731=) c.818G= (n.818G=) c.2173+5806G= (n.2173+5806G=) c.595G= (p.Val199=) c.1621G= (p.Val541=) | |
| X | g.67717495G>T | CA413424342 | AR | c.*539G>T (n.*539G>T) c.2191G>T (p.Val731Leu) c.818G>T (n.818G>T) c.2173+5806G>T (n.2173+5806G>T) c.595G>T (p.Val199Leu) c.1621G>T (p.Val541Leu) | gnomAD v4 |
| X | g.67717496T>A | CA330771841 | AR | c.*540T>A (n.*540T>A) c.2192T>A (p.Val731Glu) c.819T>A (n.819T>A) c.2173+5807T>A (n.2173+5807T>A) c.596T>A (p.Val199Glu) c.1622T>A (p.Val541Glu) | dbSNP gnomAD v4 |
| X | g.67717496T>C | CA413424346 | AR | c.*540T>C (n.*540T>C) c.2192T>C (p.Val731Ala) c.819T>C (n.819T>C) c.2173+5807T>C (n.2173+5807T>C) c.596T>C (p.Val199Ala) c.1622T>C (p.Val541Ala) | |
| X | g.67717496T>G | CA413424348 | AR | c.*540T>G (n.*540T>G) c.2192T>G (p.Val731Gly) c.819T>G (n.819T>G) c.2173+5807T>G (n.2173+5807T>G) c.596T>G (p.Val199Gly) c.1622T>G (p.Val541Gly) | |
| X | g.67717496T= | CA2435132631 | AR | c.*540T= (n.*540T=) c.2192T= (p.Val731=) c.819T= (n.819T=) c.2173+5807T= (n.2173+5807T=) c.596T= (p.Val199=) c.1622T= (p.Val541=) | |
| X | g.67717497G>A | CA516970338 | AR | c.*541G>A (n.*541G>A) c.2193G>A (p.Val731=) c.820G>A (n.820G>A) c.2173+5808G>A (n.2173+5808G>A) c.597G>A (p.Val199=) c.1623G>A (p.Val541=) | dbSNP |
| X | g.67717497G>C | CA516970339 | AR | c.*541G>C (n.*541G>C) c.2193G>C (p.Val731=) c.820G>C (n.820G>C) c.2173+5808G>C (n.2173+5808G>C) c.597G>C (p.Val199=) c.1623G>C (p.Val541=) | dbSNP |
| X | g.67717497G>T | CA516970340 | AR | c.*541G>T (n.*541G>T) c.2193G>T (p.Val731=) c.820G>T (n.820G>T) c.2173+5808G>T (n.2173+5808G>T) c.597G>T (p.Val199=) c.1623G>T (p.Val541=) | |
| X | g.67717498G>A | CA413424355 | AR | c.*542G>A (n.*542G>A) c.2194G>A (p.Asp732Asn) c.821G>A (n.821G>A) c.2173+5809G>A (n.2173+5809G>A) c.598G>A (p.Asp200Asn) c.1624G>A (p.Asp542Asn) | dbSNP |
| X | g.67717498G>C | CA413424351 | AR | c.*542G>C (n.*542G>C) c.2194G>C (p.Asp732His) c.821G>C (n.821G>C) c.2173+5809G>C (n.2173+5809G>C) c.598G>C (p.Asp200His) c.1624G>C (p.Asp542His) | dbSNP |
| X | g.67717498G>T | CA413424353 | AR | c.*542G>T (n.*542G>T) c.2194G>T (p.Asp732Tyr) c.821G>T (n.821G>T) c.2173+5809G>T (n.2173+5809G>T) c.598G>T (p.Asp200Tyr) c.1624G>T (p.Asp542Tyr) |