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 |
|---|---|---|---|---|---|
| 16 | g.1460859C>A | CA492924266 | CLCN7 | c.441G>T (p.Val147=) n.393G>T c.369G>T (p.Val123=) n.471G>T c.336G>T (p.Val112=) n.492G>T c.267G>T (p.Val89=) | |
| 16 | g.1460859C>G | CA492924267 | CLCN7 | c.441G>C (p.Val147=) n.393G>C c.369G>C (p.Val123=) n.471G>C c.336G>C (p.Val112=) n.492G>C c.267G>C (p.Val89=) | |
| 16 | g.1460859C>T | CA492924268 | CLCN7 | c.441G>A (p.Val147=) n.393G>A c.369G>A (p.Val123=) n.471G>A c.336G>A (p.Val112=) n.492G>A c.267G>A (p.Val89=) | |
| 16 | g.1460860A>C | CA394192469 | CLCN7 | c.440T>G (p.Val147Gly) n.392T>G c.368T>G (p.Val123Gly) n.470T>G c.335T>G (p.Val112Gly) n.491T>G c.266T>G (p.Val89Gly) | |
| 16 | g.1460860A>G | CA394192470 | CLCN7 | c.440T>C (p.Val147Ala) n.392T>C c.368T>C (p.Val123Ala) n.470T>C c.335T>C (p.Val112Ala) n.491T>C c.266T>C (p.Val89Ala) | |
| 16 | g.1460860A>T | CA394192472 | CLCN7 | c.440T>A (p.Val147Glu) n.392T>A c.368T>A (p.Val123Glu) n.470T>A c.335T>A (p.Val112Glu) n.491T>A c.266T>A (p.Val89Glu) | |
| 16 | g.1460861C>A | CA394192474 | CLCN7 | c.439G>T (p.Val147Leu) n.391G>T c.367G>T (p.Val123Leu) n.469G>T c.334G>T (p.Val112Leu) n.490G>T c.265G>T (p.Val89Leu) | |
| 16 | g.1460861C= | CA2201679007 | CLCN7 | c.439G= (p.Val147=) n.391G= c.367G= (p.Val123=) n.469G= c.334G= (p.Val112=) n.490G= c.265G= (p.Val89=) | |
| 16 | g.1460861C>G | CA394192476 | CLCN7 | c.439G>C (p.Val147Leu) n.391G>C c.367G>C (p.Val123Leu) n.469G>C c.334G>C (p.Val112Leu) n.490G>C c.265G>C (p.Val89Leu) | |
| 16 | g.1460861C>T | CA7810789 | CLCN7 | c.439G>A (p.Val147Met) n.391G>A c.367G>A (p.Val123Met) n.469G>A c.334G>A (p.Val112Met) n.490G>A c.265G>A (p.Val89Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1460862G>A | CA7810790 | CLCN7 | c.438C>T (p.Ile146=) n.390C>T c.366C>T (p.Ile122=) n.468C>T c.333C>T (p.Ile111=) n.489C>T c.264C>T (p.Ile88=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1460862G>C | CA394192477 | CLCN7 | c.438C>G (p.Ile146Met) n.390C>G c.366C>G (p.Ile122Met) n.468C>G c.333C>G (p.Ile111Met) n.489C>G c.264C>G (p.Ile88Met) | |
| 16 | g.1460862G= | CA2201679009 | CLCN7 | c.438C= (p.Ile146=) n.390C= c.366C= (p.Ile122=) n.468C= c.333C= (p.Ile111=) n.489C= c.264C= (p.Ile88=) | |
| 16 | g.1460862G>T | CA492924273 | CLCN7 | c.438C>A (p.Ile146=) n.390C>A c.366C>A (p.Ile122=) n.468C>A c.333C>A (p.Ile111=) n.489C>A c.264C>A (p.Ile88=) | gnomAD v4 |
| 16 | g.1460863_1460865del | CA2580090460 | CLCN7 | c.436_438del (p.Ile146del) n.388_390del c.364_366del (p.Ile122del) n.466_468del c.331_333del (p.Ile111del) n.487_489del c.262_264del (p.Ile88del) | ClinVar |
| 16 | g.1460863A= | CA2201679012 | CLCN7 | c.437T= (p.Ile146=) n.389T= c.365T= (p.Ile122=) n.467T= c.332T= (p.Ile111=) n.488T= c.263T= (p.Ile88=) | |
| 16 | g.1460863A>C | CA394192482 | CLCN7 | c.437T>G (p.Ile146Ser) n.389T>G c.365T>G (p.Ile122Ser) n.467T>G c.332T>G (p.Ile111Ser) n.488T>G c.263T>G (p.Ile88Ser) | |
| 16 | g.1460863A>G | CA7810791 | CLCN7 | c.437T>C (p.Ile146Thr) n.389T>C c.365T>C (p.Ile122Thr) n.467T>C c.332T>C (p.Ile111Thr) n.488T>C c.263T>C (p.Ile88Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1460863A>T | CA394192480 | CLCN7 | c.437T>A (p.Ile146Asn) n.389T>A c.365T>A (p.Ile122Asn) n.467T>A c.332T>A (p.Ile111Asn) n.488T>A c.263T>A (p.Ile88Asn) | |
| 16 | g.1460864T>A | CA394192483 | CLCN7 | c.436A>T (p.Ile146Phe) n.388A>T c.364A>T (p.Ile122Phe) n.466A>T c.331A>T (p.Ile111Phe) n.487A>T c.262A>T (p.Ile88Phe) | |
| 16 | g.1460864T>C | CA394192484 | CLCN7 | c.436A>G (p.Ile146Val) n.388A>G c.364A>G (p.Ile122Val) n.466A>G c.331A>G (p.Ile111Val) n.487A>G c.262A>G (p.Ile88Val) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1460864T>G | CA394192486 | CLCN7 | c.436A>C (p.Ile146Leu) n.388A>C c.364A>C (p.Ile122Leu) n.466A>C c.331A>C (p.Ile111Leu) n.487A>C c.262A>C (p.Ile88Leu) | |
| 16 | g.1460864T= | CA2201679014 | CLCN7 | c.436A= (p.Ile146=) n.388A= c.364A= (p.Ile122=) n.466A= c.331A= (p.Ile111=) n.487A= c.262A= (p.Ile88=) | |
| 16 | g.1460865G>A | CA7810792 | CLCN7 | c.435C>T (p.Asp145=) n.387C>T c.363C>T (p.Asp121=) n.465C>T c.330C>T (p.Asp110=) n.486C>T c.261C>T (p.Asp87=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1460865G>C | CA394192489 | CLCN7 | c.435C>G (p.Asp145Glu) n.387C>G c.363C>G (p.Asp121Glu) n.465C>G c.330C>G (p.Asp110Glu) n.486C>G c.261C>G (p.Asp87Glu) | |
| 16 | g.1460865G= | CA2201679019 | CLCN7 | c.435C= (p.Asp145=) n.387C= c.363C= (p.Asp121=) n.465C= c.330C= (p.Asp110=) n.486C= c.261C= (p.Asp87=) | |
| 16 | g.1460865G>T | CA394192490 | CLCN7 | c.435C>A (p.Asp145Glu) n.387C>A c.363C>A (p.Asp121Glu) n.465C>A c.330C>A (p.Asp110Glu) n.486C>A c.261C>A (p.Asp87Glu) | COSMIC |
| 16 | g.1460866T>A | CA394192491 | CLCN7 | c.434A>T (p.Asp145Val) n.386A>T c.362A>T (p.Asp121Val) n.464A>T c.329A>T (p.Asp110Val) n.485A>T c.260A>T (p.Asp87Val) | |
| 16 | g.1460866T>C | CA394192493 | CLCN7 | c.434A>G (p.Asp145Gly) n.386A>G c.362A>G (p.Asp121Gly) n.464A>G c.329A>G (p.Asp110Gly) n.485A>G c.260A>G (p.Asp87Gly) | |
| 16 | g.1460866T>G | CA394192495 | CLCN7 | c.434A>C (p.Asp145Ala) n.386A>C c.362A>C (p.Asp121Ala) n.464A>C c.329A>C (p.Asp110Ala) n.485A>C c.260A>C (p.Asp87Ala) | |
| 16 | g.1460867C>A | CA394192496 | CLCN7 | c.433G>T (p.Asp145Tyr) n.385G>T c.361G>T (p.Asp121Tyr) n.463G>T c.328G>T (p.Asp110Tyr) n.484G>T c.259G>T (p.Asp87Tyr) | COSMIC |
| 16 | g.1460867C>G | CA394192498 | CLCN7 | c.433G>C (p.Asp145His) n.385G>C c.361G>C (p.Asp121His) n.463G>C c.328G>C (p.Asp110His) n.484G>C c.259G>C (p.Asp87His) | |
| 16 | g.1460867C>T | CA394192499 | CLCN7 | c.433G>A (p.Asp145Asn) n.385G>A c.361G>A (p.Asp121Asn) n.463G>A c.328G>A (p.Asp110Asn) n.484G>A c.259G>A (p.Asp87Asn) | |
| 16 | g.1460868A>C | CA394192501 | CLCN7 | c.432T>G (p.Ile144Met) n.384T>G c.360T>G (p.Ile120Met) n.462T>G c.327T>G (p.Ile109Met) n.483T>G c.258T>G (p.Ile86Met) | |
| 16 | g.1460868A>G | CA492924282 | CLCN7 | c.432T>C (p.Ile144=) n.384T>C c.360T>C (p.Ile120=) n.462T>C c.327T>C (p.Ile109=) n.483T>C c.258T>C (p.Ile86=) | |
| 16 | g.1460868A>T | CA492924283 | CLCN7 | c.432T>A (p.Ile144=) n.384T>A c.360T>A (p.Ile120=) n.462T>A c.327T>A (p.Ile109=) n.483T>A c.258T>A (p.Ile86=) | |
| 16 | g.1460869A>C | CA394192505 | CLCN7 | c.431T>G (p.Ile144Ser) n.383T>G c.359T>G (p.Ile120Ser) n.461T>G c.326T>G (p.Ile109Ser) n.482T>G c.257T>G (p.Ile86Ser) | |
| 16 | g.1460869A>G | CA394192504 | CLCN7 | c.431T>C (p.Ile144Thr) n.383T>C c.359T>C (p.Ile120Thr) n.461T>C c.326T>C (p.Ile109Thr) n.482T>C c.257T>C (p.Ile86Thr) | |
| 16 | g.1460869A>T | CA394192503 | CLCN7 | c.431T>A (p.Ile144Asn) n.383T>A c.359T>A (p.Ile120Asn) n.461T>A c.326T>A (p.Ile109Asn) n.482T>A c.257T>A (p.Ile86Asn) | |
| 16 | g.1460870T>A | CA394192507 | CLCN7 | c.430A>T (p.Ile144Phe) n.382A>T c.358A>T (p.Ile120Phe) n.460A>T c.325A>T (p.Ile109Phe) n.481A>T c.256A>T (p.Ile86Phe) | |
| 16 | g.1460870T>C | CA7810793 | CLCN7 | c.430A>G (p.Ile144Val) n.382A>G c.358A>G (p.Ile120Val) n.460A>G c.325A>G (p.Ile109Val) n.481A>G c.256A>G (p.Ile86Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1460870T>G | CA394192509 | CLCN7 | c.430A>C (p.Ile144Leu) n.382A>C c.358A>C (p.Ile120Leu) n.460A>C c.325A>C (p.Ile109Leu) n.481A>C c.256A>C (p.Ile86Leu) | |
| 16 | g.1460870T= | CA2201679023 | CLCN7 | c.430A= (p.Ile144=) n.382A= c.358A= (p.Ile120=) n.460A= c.325A= (p.Ile109=) n.481A= c.256A= (p.Ile86=) | |
| 16 | g.1460871G>A | CA492924288 | CLCN7 | c.429C>T (p.Phe143=) n.381C>T c.357C>T (p.Phe119=) n.459C>T c.324C>T (p.Phe108=) n.480C>T c.255C>T (p.Phe85=) | |
| 16 | g.1460871G>C | CA7810794 | CLCN7 | c.429C>G (p.Phe143Leu) n.381C>G c.357C>G (p.Phe119Leu) n.459C>G c.324C>G (p.Phe108Leu) n.480C>G c.255C>G (p.Phe85Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1460871G= | CA2201679024 | CLCN7 | c.429C= (p.Phe143=) n.381C= c.357C= (p.Phe119=) n.459C= c.324C= (p.Phe108=) n.480C= c.255C= (p.Phe85=) | |
| 16 | g.1460871G>T | CA394192512 | CLCN7 | c.429C>A (p.Phe143Leu) n.381C>A c.357C>A (p.Phe119Leu) n.459C>A c.324C>A (p.Phe108Leu) n.480C>A c.255C>A (p.Phe85Leu) | ClinVar |
| 16 | g.1460872A= | CA2201679026 | CLCN7 | c.428T= (p.Phe143=) n.380T= c.356T= (p.Phe119=) n.458T= c.323T= (p.Phe108=) n.479T= c.254T= (p.Phe85=) | |
| 16 | g.1460872A>C | CA394192514 | CLCN7 | c.428T>G (p.Phe143Cys) n.380T>G c.356T>G (p.Phe119Cys) n.458T>G c.323T>G (p.Phe108Cys) n.479T>G c.254T>G (p.Phe85Cys) | |
| 16 | g.1460872A>G | CA394192515 | CLCN7 | c.428T>C (p.Phe143Ser) n.380T>C c.356T>C (p.Phe119Ser) n.458T>C c.323T>C (p.Phe108Ser) n.479T>C c.254T>C (p.Phe85Ser) |