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 |
|---|---|---|---|---|---|
| Y | g.12735689A>C | CA519865524 | USP9Y | c.735A>C (p.Gly245=) n.747A>C c.501A>C (p.Gly167=) | |
| Y | g.12735689A>G | CA519865529 | USP9Y | c.735A>G (p.Gly245=) n.747A>G c.501A>G (p.Gly167=) | |
| Y | g.12735689A>T | CA519865530 | USP9Y | c.735A>T (p.Gly245=) n.747A>T c.501A>T (p.Gly167=) | |
| Y | g.12735690T>A | CA414984608 | USP9Y | c.736T>A (p.Ser246Thr) n.748T>A c.502T>A (p.Ser168Thr) | |
| Y | g.12735690T>C | CA414984614 | USP9Y | c.736T>C (p.Ser246Pro) n.748T>C c.502T>C (p.Ser168Pro) | |
| Y | g.12735690T>G | CA414984618 | USP9Y | c.736T>G (p.Ser246Ala) n.748T>G c.502T>G (p.Ser168Ala) | |
| Y | g.12735691C>A | CA414984620 | USP9Y | c.737C>A (p.Ser246Ter) n.749C>A c.503C>A (p.Ser168Ter) | |
| Y | g.12735691C>G | CA414984622 | USP9Y | c.737C>G (p.Ser246Ter) n.749C>G c.503C>G (p.Ser168Ter) | |
| Y | g.12735691C>T | CA414984628 | USP9Y | c.737C>T (p.Ser246Leu) n.749C>T c.503C>T (p.Ser168Leu) | |
| Y | g.12735692A>C | CA519865550 | USP9Y | c.738A>C (p.Ser246=) n.750A>C c.504A>C (p.Ser168=) | |
| Y | g.12735692A>G | CA519865554 | USP9Y | c.738A>G (p.Ser246=) n.750A>G c.504A>G (p.Ser168=) | |
| Y | g.12735692A>T | CA519865558 | USP9Y | c.738A>T (p.Ser246=) n.750A>T c.504A>T (p.Ser168=) | |
| Y | g.12735693G>A | CA414984641 | USP9Y | c.739G>A (p.Ala247Thr) n.751G>A c.505G>A (p.Ala169Thr) | |
| Y | g.12735693G>C | CA414984639 | USP9Y | c.739G>C (p.Ala247Pro) n.751G>C c.505G>C (p.Ala169Pro) | |
| Y | g.12735693G>T | CA414984636 | USP9Y | c.739G>T (p.Ala247Ser) n.751G>T c.505G>T (p.Ala169Ser) | |
| Y | g.12735694C>A | CA414984645 | USP9Y | c.740C>A (p.Ala247Glu) n.752C>A c.506C>A (p.Ala169Glu) | |
| Y | g.12735694C>G | CA414984650 | USP9Y | c.740C>G (p.Ala247Gly) n.752C>G c.506C>G (p.Ala169Gly) | |
| Y | g.12735694C>T | CA414984653 | USP9Y | c.740C>T (p.Ala247Val) n.752C>T c.506C>T (p.Ala169Val) | |
| Y | g.12735695A>C | CA519865585 | USP9Y | c.741A>C (p.Ala247=) n.753A>C c.507A>C (p.Ala169=) | |
| Y | g.12735695A>G | CA519865589 | USP9Y | c.741A>G (p.Ala247=) n.753A>G c.507A>G (p.Ala169=) | |
| Y | g.12735695A>T | CA519865591 | USP9Y | c.741A>T (p.Ala247=) n.753A>T c.507A>T (p.Ala169=) | |
| Y | g.12735696T>A | CA414984654 | USP9Y | c.742T>A (p.Leu248Ile) n.754T>A c.508T>A (p.Leu170Ile) | |
| Y | g.12735696T>C | CA519865595 | USP9Y | c.742T>C (p.Leu248=) n.754T>C c.508T>C (p.Leu170=) | |
| Y | g.12735696T>G | CA414984657 | USP9Y | c.742T>G (p.Leu248Val) n.754T>G c.508T>G (p.Leu170Val) | |
| Y | g.12735697T>A | CA414984661 | USP9Y | c.743T>A (p.Leu248Ter) n.755T>A c.509T>A (p.Leu170Ter) | |
| Y | g.12735697T>C | CA414984662 | USP9Y | c.743T>C (p.Leu248Ser) n.755T>C c.509T>C (p.Leu170Ser) | |
| Y | g.12735697T>G | CA414984663 | USP9Y | c.743T>G (p.Leu248Ter) n.755T>G c.509T>G (p.Leu170Ter) | |
| Y | g.12735698A>C | CA414984665 | USP9Y | c.744A>C (p.Leu248Phe) n.756A>C c.510A>C (p.Leu170Phe) | |
| Y | g.12735698A>G | CA519865613 | USP9Y | c.744A>G (p.Leu248=) n.756A>G c.510A>G (p.Leu170=) | |
| Y | g.12735698A>T | CA414984668 | USP9Y | c.744A>T (p.Leu248Phe) n.756A>T c.510A>T (p.Leu170Phe) | |
| Y | g.12735699A>C | CA414984676 | USP9Y | c.745A>C (p.Asn249His) n.757A>C c.511A>C (p.Asn171His) | |
| Y | g.12735699A>G | CA414984679 | USP9Y | c.745A>G (p.Asn249Asp) n.757A>G c.511A>G (p.Asn171Asp) | |
| Y | g.12735699A>T | CA414984684 | USP9Y | c.745A>T (p.Asn249Tyr) n.757A>T c.511A>T (p.Asn171Tyr) | |
| Y | g.12735700A>C | CA414984702 | USP9Y | c.746A>C (p.Asn249Thr) n.758A>C c.512A>C (p.Asn171Thr) | |
| Y | g.12735700A>G | CA414984716 | USP9Y | c.746A>G (p.Asn249Ser) n.758A>G c.512A>G (p.Asn171Ser) | |
| Y | g.12735700A>T | CA414984698 | USP9Y | c.746A>T (p.Asn249Ile) n.758A>T c.512A>T (p.Asn171Ile) | |
| Y | g.12735701T>A | CA414984721 | USP9Y | c.747T>A (p.Asn249Lys) n.759T>A c.513T>A (p.Asn171Lys) | |
| Y | g.12735701T>C | CA10573062 | USP9Y | c.747T>C (p.Asn249=) n.759T>C c.513T>C (p.Asn171=) | dbSNP ExAC gnomAD v2 |
| Y | g.12735701T>G | CA414984734 | USP9Y | c.747T>G (p.Asn249Lys) n.759T>G c.513T>G (p.Asn171Lys) | |
| Y | g.12735701T= | CA2470555344 | USP9Y | c.747T= (p.Asn249=) n.759T= c.513T= (p.Asn171=) | |
| Y | g.12735702A>C | CA414984750 | USP9Y | c.748A>C (p.Ile250Leu) n.760A>C c.514A>C (p.Ile172Leu) | |
| Y | g.12735702A>G | CA414984755 | USP9Y | c.748A>G (p.Ile250Val) n.760A>G c.514A>G (p.Ile172Val) | |
| Y | g.12735702A>T | CA414984759 | USP9Y | c.748A>T (p.Ile250Phe) n.760A>T c.514A>T (p.Ile172Phe) | |
| Y | g.12735703T>A | CA414984765 | USP9Y | c.749T>A (p.Ile250Asn) n.761T>A c.515T>A (p.Ile172Asn) | |
| Y | g.12735703T>C | CA414984769 | USP9Y | c.749T>C (p.Ile250Thr) n.761T>C c.515T>C (p.Ile172Thr) | |
| Y | g.12735703T>G | CA414984773 | USP9Y | c.749T>G (p.Ile250Ser) n.761T>G c.515T>G (p.Ile172Ser) | |
| Y | g.12735704T>A | CA519865684 | USP9Y | c.750T>A (p.Ile250=) n.762T>A c.516T>A (p.Ile172=) | |
| Y | g.12735704T>C | CA519865715 | USP9Y | c.750T>C (p.Ile250=) n.762T>C c.516T>C (p.Ile172=) | |
| Y | g.12735704T>G | CA414984779 | USP9Y | c.750T>G (p.Ile250Met) n.762T>G c.516T>G (p.Ile172Met) | |
| Y | g.12735705C>A | CA414984783 | USP9Y | c.751C>A (p.Gln251Lys) n.763C>A c.517C>A (p.Gln173Lys) |