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 |
|---|---|---|---|---|---|
| 9 | g.91297993G>A | CA120085 | AUH | c.589C>T (p.Arg197Ter) c.502C>T (p.Arg168Ter) n.749C>T c.619C>T (p.Arg207Ter) c.127C>T (p.Arg43Ter) c.532C>T (p.Arg178Ter) c.265C>T (p.Arg89Ter) c.262C>T (p.Arg88Ter) n.672C>T n.624C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91297993G>C | CA373836851 | AUH | c.589C>G (p.Arg197Gly) c.502C>G (p.Arg168Gly) n.749C>G c.619C>G (p.Arg207Gly) c.127C>G (p.Arg43Gly) c.532C>G (p.Arg178Gly) c.265C>G (p.Arg89Gly) c.262C>G (p.Arg88Gly) n.672C>G n.624C>G | |
| 9 | g.91297993G= | CA1863721477 | AUH | c.589C= (p.Arg197=) c.502C= (p.Arg168=) n.749C= c.619C= (p.Arg207=) c.127C= (p.Arg43=) c.532C= (p.Arg178=) c.265C= (p.Arg89=) c.262C= (p.Arg88=) n.672C= n.624C= | |
| 9 | g.91297993G>T | CA466223290 | AUH | c.589C>A (p.Arg197=) c.502C>A (p.Arg168=) n.749C>A c.619C>A (p.Arg207=) c.127C>A (p.Arg43=) c.532C>A (p.Arg178=) c.265C>A (p.Arg89=) c.262C>A (p.Arg88=) n.672C>A n.624C>A | |
| 9 | g.91297994T>A | CA466223292 | AUH | c.588A>T (p.Ile196=) c.501A>T (p.Ile167=) n.748A>T c.618A>T (p.Ile206=) c.126A>T (p.Ile42=) c.531A>T (p.Ile177=) c.264A>T (p.Ile88=) c.261A>T (p.Ile87=) n.671A>T n.623A>T | |
| 9 | g.91297994T>C | CA5119815 | AUH | c.588A>G (p.Ile196Met) c.501A>G (p.Ile167Met) n.748A>G c.618A>G (p.Ile206Met) c.126A>G (p.Ile42Met) c.531A>G (p.Ile177Met) c.264A>G (p.Ile88Met) c.261A>G (p.Ile87Met) n.671A>G n.623A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91297994T>G | CA466223295 | AUH | c.588A>C (p.Ile196=) c.501A>C (p.Ile167=) n.748A>C c.618A>C (p.Ile206=) c.126A>C (p.Ile42=) c.531A>C (p.Ile177=) c.264A>C (p.Ile88=) c.261A>C (p.Ile87=) n.671A>C n.623A>C | |
| 9 | g.91297994T= | CA1863721478 | AUH | c.588A= (p.Ile196=) c.501A= (p.Ile167=) n.748A= c.618A= (p.Ile206=) c.126A= (p.Ile42=) c.531A= (p.Ile177=) c.264A= (p.Ile88=) c.261A= (p.Ile87=) n.671A= n.623A= | |
| 9 | g.91297995A= | CA1863721479 | AUH | c.587T= (p.Ile196=) c.500T= (p.Ile167=) n.747T= c.617T= (p.Ile206=) c.125T= (p.Ile42=) c.530T= (p.Ile177=) c.263T= (p.Ile88=) c.260T= (p.Ile87=) n.670T= n.622T= | |
| 9 | g.91297995A>C | CA373836852 | AUH | c.587T>G (p.Ile196Arg) c.500T>G (p.Ile167Arg) n.747T>G c.617T>G (p.Ile206Arg) c.125T>G (p.Ile42Arg) c.530T>G (p.Ile177Arg) c.263T>G (p.Ile88Arg) c.260T>G (p.Ile87Arg) n.670T>G n.622T>G | |
| 9 | g.91297995A>G | CA5119816 | AUH | c.587T>C (p.Ile196Thr) c.500T>C (p.Ile167Thr) n.747T>C c.617T>C (p.Ile206Thr) c.125T>C (p.Ile42Thr) c.530T>C (p.Ile177Thr) c.263T>C (p.Ile88Thr) c.260T>C (p.Ile87Thr) n.670T>C n.622T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91297995A>T | CA373836853 | AUH | c.587T>A (p.Ile196Lys) c.500T>A (p.Ile167Lys) n.747T>A c.617T>A (p.Ile206Lys) c.125T>A (p.Ile42Lys) c.530T>A (p.Ile177Lys) c.263T>A (p.Ile88Lys) c.260T>A (p.Ile87Lys) n.670T>A n.622T>A | |
| 9 | g.91297996T>A | CA373836854 | AUH | c.586A>T (p.Ile196Leu) c.499A>T (p.Ile167Leu) n.746A>T c.616A>T (p.Ile206Leu) c.124A>T (p.Ile42Leu) c.529A>T (p.Ile177Leu) c.262A>T (p.Ile88Leu) c.259A>T (p.Ile87Leu) n.669A>T n.621A>T | |
| 9 | g.91297996T>C | CA373836855 | AUH | c.586A>G (p.Ile196Val) c.499A>G (p.Ile167Val) n.746A>G c.616A>G (p.Ile206Val) c.124A>G (p.Ile42Val) c.529A>G (p.Ile177Val) c.262A>G (p.Ile88Val) c.259A>G (p.Ile87Val) n.669A>G n.621A>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.91297996T>G | CA373836856 | AUH | c.586A>C (p.Ile196Leu) c.499A>C (p.Ile167Leu) n.746A>C c.616A>C (p.Ile206Leu) c.124A>C (p.Ile42Leu) c.529A>C (p.Ile177Leu) c.262A>C (p.Ile88Leu) c.259A>C (p.Ile87Leu) n.669A>C n.621A>C | |
| 9 | g.91297996T= | CA1863721480 | AUH | c.586A= (p.Ile196=) c.499A= (p.Ile167=) n.746A= c.616A= (p.Ile206=) c.124A= (p.Ile42=) c.529A= (p.Ile177=) c.262A= (p.Ile88=) c.259A= (p.Ile87=) n.669A= n.621A= | |
| 9 | g.91297997A>C | CA373836857 | AUH | c.585T>G (p.Asp195Glu) c.498T>G (p.Asp166Glu) n.745T>G c.615T>G (p.Asp205Glu) c.123T>G (p.Asp41Glu) c.528T>G (p.Asp176Glu) c.261T>G (p.Asp87Glu) c.258T>G (p.Asp86Glu) n.668T>G n.620T>G | |
| 9 | g.91297997A>G | CA466223308 | AUH | c.585T>C (p.Asp195=) c.498T>C (p.Asp166=) n.745T>C c.615T>C (p.Asp205=) c.123T>C (p.Asp41=) c.528T>C (p.Asp176=) c.261T>C (p.Asp87=) c.258T>C (p.Asp86=) n.668T>C n.620T>C | gnomAD v4 |
| 9 | g.91297997A>T | CA373836858 | AUH | c.585T>A (p.Asp195Glu) c.498T>A (p.Asp166Glu) n.745T>A c.615T>A (p.Asp205Glu) c.123T>A (p.Asp41Glu) c.528T>A (p.Asp176Glu) c.261T>A (p.Asp87Glu) c.258T>A (p.Asp86Glu) n.668T>A n.620T>A | |
| 9 | g.91297998T>A | CA373836860 | AUH | c.584A>T (p.Asp195Val) c.497A>T (p.Asp166Val) n.744A>T c.614A>T (p.Asp205Val) c.122A>T (p.Asp41Val) c.527A>T (p.Asp176Val) c.260A>T (p.Asp87Val) c.257A>T (p.Asp86Val) n.667A>T n.619A>T | |
| 9 | g.91297998T>C | CA373836861 | AUH | c.584A>G (p.Asp195Gly) c.497A>G (p.Asp166Gly) n.744A>G c.614A>G (p.Asp205Gly) c.122A>G (p.Asp41Gly) c.527A>G (p.Asp176Gly) c.260A>G (p.Asp87Gly) c.257A>G (p.Asp86Gly) n.667A>G n.619A>G | gnomAD v4 |
| 9 | g.91297998T>G | CA373836859 | AUH | c.584A>C (p.Asp195Ala) c.497A>C (p.Asp166Ala) n.744A>C c.614A>C (p.Asp205Ala) c.122A>C (p.Asp41Ala) c.527A>C (p.Asp176Ala) c.260A>C (p.Asp87Ala) c.257A>C (p.Asp86Ala) n.667A>C n.619A>C | ClinVar dbSNP gnomAD v4 |
| 9 | g.91297998T= | CA1863721481 | AUH | c.584A= (p.Asp195=) c.497A= (p.Asp166=) n.744A= c.614A= (p.Asp205=) c.122A= (p.Asp41=) c.527A= (p.Asp176=) c.260A= (p.Asp87=) c.257A= (p.Asp86=) n.667A= n.619A= | |
| 9 | g.91297999C>A | CA373836863 | AUH | c.583G>T (p.Asp195Tyr) c.496G>T (p.Asp166Tyr) n.743G>T c.613G>T (p.Asp205Tyr) c.121G>T (p.Asp41Tyr) c.526G>T (p.Asp176Tyr) c.259G>T (p.Asp87Tyr) c.256G>T (p.Asp86Tyr) n.666G>T n.618G>T | dbSNP |
| 9 | g.91297999C= | CA1863721482 | AUH | c.583G= (p.Asp195=) c.496G= (p.Asp166=) n.743G= c.613G= (p.Asp205=) c.121G= (p.Asp41=) c.526G= (p.Asp176=) c.259G= (p.Asp87=) c.256G= (p.Asp86=) n.666G= n.618G= | |
| 9 | g.91297999C>G | CA373836862 | AUH | c.583G>C (p.Asp195His) c.496G>C (p.Asp166His) n.743G>C c.613G>C (p.Asp205His) c.121G>C (p.Asp41His) c.526G>C (p.Asp176His) c.259G>C (p.Asp87His) c.256G>C (p.Asp86His) n.666G>C n.618G>C | |
| 9 | g.91297999C>T | CA195909175 | AUH | c.583G>A (p.Asp195Asn) c.496G>A (p.Asp166Asn) n.743G>A c.613G>A (p.Asp205Asn) c.121G>A (p.Asp41Asn) c.526G>A (p.Asp176Asn) c.259G>A (p.Asp87Asn) c.256G>A (p.Asp86Asn) n.666G>A n.618G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91298000A>C | CA373836864 | AUH | c.582T>G (p.Cys194Trp) c.495T>G (p.Cys165Trp) n.742T>G c.612T>G (p.Cys204Trp) c.120T>G (p.Cys40Trp) c.525T>G (p.Cys175Trp) c.258T>G (p.Cys86Trp) c.255T>G (p.Cys85Trp) n.665T>G n.617T>G | |
| 9 | g.91298000A>G | CA466223317 | AUH | c.582T>C (p.Cys194=) c.495T>C (p.Cys165=) n.742T>C c.612T>C (p.Cys204=) c.120T>C (p.Cys40=) c.525T>C (p.Cys175=) c.258T>C (p.Cys86=) c.255T>C (p.Cys85=) n.665T>C n.617T>C | |
| 9 | g.91298000A>T | CA373836865 | AUH | c.582T>A (p.Cys194Ter) c.495T>A (p.Cys165Ter) n.742T>A c.612T>A (p.Cys204Ter) c.120T>A (p.Cys40Ter) c.525T>A (p.Cys175Ter) c.258T>A (p.Cys86Ter) c.255T>A (p.Cys85Ter) n.665T>A n.617T>A | |
| 9 | g.91298001C>A | CA373836866 | AUH | c.581G>T (p.Cys194Phe) c.494G>T (p.Cys165Phe) n.741G>T c.611G>T (p.Cys204Phe) c.119G>T (p.Cys40Phe) c.524G>T (p.Cys175Phe) c.257G>T (p.Cys86Phe) c.254G>T (p.Cys85Phe) n.664G>T n.616G>T | |
| 9 | g.91298001C>G | CA373836867 | AUH | c.581G>C (p.Cys194Ser) c.494G>C (p.Cys165Ser) n.741G>C c.611G>C (p.Cys204Ser) c.119G>C (p.Cys40Ser) c.524G>C (p.Cys175Ser) c.257G>C (p.Cys86Ser) c.254G>C (p.Cys85Ser) n.664G>C n.616G>C | |
| 9 | g.91298001C>T | CA373836868 | AUH | c.581G>A (p.Cys194Tyr) c.494G>A (p.Cys165Tyr) n.741G>A c.611G>A (p.Cys204Tyr) c.119G>A (p.Cys40Tyr) c.524G>A (p.Cys175Tyr) c.257G>A (p.Cys86Tyr) c.254G>A (p.Cys85Tyr) n.664G>A n.616G>A | gnomAD v4 |
| 9 | g.91298002A= | CA1863721483 | AUH | c.580T= (p.Cys194=) c.493T= (p.Cys165=) n.740T= c.610T= (p.Cys204=) c.118T= (p.Cys40=) c.523T= (p.Cys175=) c.256T= (p.Cys86=) c.253T= (p.Cys85=) n.663T= n.615T= | |
| 9 | g.91298002A>C | CA373836869 | AUH | c.580T>G (p.Cys194Gly) c.493T>G (p.Cys165Gly) n.740T>G c.610T>G (p.Cys204Gly) c.118T>G (p.Cys40Gly) c.523T>G (p.Cys175Gly) c.256T>G (p.Cys86Gly) c.253T>G (p.Cys85Gly) n.663T>G n.615T>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.91298002A>G | CA373836870 | AUH | c.580T>C (p.Cys194Arg) c.493T>C (p.Cys165Arg) n.740T>C c.610T>C (p.Cys204Arg) c.118T>C (p.Cys40Arg) c.523T>C (p.Cys175Arg) c.256T>C (p.Cys86Arg) c.253T>C (p.Cys85Arg) n.663T>C n.615T>C | gnomAD v4 |
| 9 | g.91298002A>T | CA373836871 | AUH | c.580T>A (p.Cys194Ser) c.493T>A (p.Cys165Ser) n.740T>A c.610T>A (p.Cys204Ser) c.118T>A (p.Cys40Ser) c.523T>A (p.Cys175Ser) c.256T>A (p.Cys86Ser) c.253T>A (p.Cys85Ser) n.663T>A n.615T>A | |
| 9 | g.91298003G>A | CA5119817 | AUH | c.579C>T (p.Ala193=) c.492C>T (p.Ala164=) n.739C>T c.609C>T (p.Ala203=) c.117C>T (p.Ala39=) c.522C>T (p.Ala174=) c.255C>T (p.Ala85=) c.252C>T (p.Ala84=) n.662C>T n.614C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.91298003G>C | CA466223327 | AUH | c.579C>G (p.Ala193=) c.492C>G (p.Ala164=) n.739C>G c.609C>G (p.Ala203=) c.117C>G (p.Ala39=) c.522C>G (p.Ala174=) c.255C>G (p.Ala85=) c.252C>G (p.Ala84=) n.662C>G n.614C>G | |
| 9 | g.91298003G= | CA1863721484 | AUH | c.579C= (p.Ala193=) c.492C= (p.Ala164=) n.739C= c.609C= (p.Ala203=) c.117C= (p.Ala39=) c.522C= (p.Ala174=) c.255C= (p.Ala85=) c.252C= (p.Ala84=) n.662C= n.614C= | |
| 9 | g.91298003G>T | CA466223328 | AUH | c.579C>A (p.Ala193=) c.492C>A (p.Ala164=) n.739C>A c.609C>A (p.Ala203=) c.117C>A (p.Ala39=) c.522C>A (p.Ala174=) c.255C>A (p.Ala85=) c.252C>A (p.Ala84=) n.662C>A n.614C>A | |
| 9 | g.91298004G>A | CA373836872 | AUH | c.578C>T (p.Ala193Val) c.491C>T (p.Ala164Val) n.738C>T c.608C>T (p.Ala203Val) c.116C>T (p.Ala39Val) c.521C>T (p.Ala174Val) c.254C>T (p.Ala85Val) c.251C>T (p.Ala84Val) n.661C>T n.613C>T | ClinVar dbSNP |
| 9 | g.91298004G>C | CA373836873 | AUH | c.578C>G (p.Ala193Gly) c.491C>G (p.Ala164Gly) n.738C>G c.608C>G (p.Ala203Gly) c.116C>G (p.Ala39Gly) c.521C>G (p.Ala174Gly) c.254C>G (p.Ala85Gly) c.251C>G (p.Ala84Gly) n.661C>G n.613C>G | |
| 9 | g.91298004G>T | CA373836874 | AUH | c.578C>A (p.Ala193Asp) c.491C>A (p.Ala164Asp) n.738C>A c.608C>A (p.Ala203Asp) c.116C>A (p.Ala39Asp) c.521C>A (p.Ala174Asp) c.254C>A (p.Ala85Asp) c.251C>A (p.Ala84Asp) n.661C>A n.613C>A | |
| 9 | g.91298005C>A | CA195909177 | AUH | c.577G>T (p.Ala193Ser) c.490G>T (p.Ala164Ser) n.737G>T c.607G>T (p.Ala203Ser) c.115G>T (p.Ala39Ser) c.520G>T (p.Ala174Ser) c.253G>T (p.Ala85Ser) c.250G>T (p.Ala84Ser) n.660G>T n.612G>T | dbSNP |
| 9 | g.91298005C= | CA1863721485 | AUH | c.577G= (p.Ala193=) c.490G= (p.Ala164=) n.737G= c.607G= (p.Ala203=) c.115G= (p.Ala39=) c.520G= (p.Ala174=) c.253G= (p.Ala85=) c.250G= (p.Ala84=) n.660G= n.612G= | |
| 9 | g.91298005C>G | CA373836875 | AUH | c.577G>C (p.Ala193Pro) c.490G>C (p.Ala164Pro) n.737G>C c.607G>C (p.Ala203Pro) c.115G>C (p.Ala39Pro) c.520G>C (p.Ala174Pro) c.253G>C (p.Ala85Pro) c.250G>C (p.Ala84Pro) n.660G>C n.612G>C | |
| 9 | g.91298005C>T | CA373836876 | AUH | c.577G>A (p.Ala193Thr) c.490G>A (p.Ala164Thr) n.737G>A c.607G>A (p.Ala203Thr) c.115G>A (p.Ala39Thr) c.520G>A (p.Ala174Thr) c.253G>A (p.Ala85Thr) c.250G>A (p.Ala84Thr) n.660G>A n.612G>A | |
| 9 | g.91298006T>A | CA373836877 | AUH | c.576A>T (p.Leu192Phe) c.489A>T (p.Leu163Phe) n.736A>T c.606A>T (p.Leu202Phe) c.114A>T (p.Leu38Phe) c.519A>T (p.Leu173Phe) c.252A>T (p.Leu84Phe) c.249A>T (p.Leu83Phe) n.659A>T n.611A>T | |
| 9 | g.91298006T>C | CA466223340 | AUH | c.576A>G (p.Leu192=) c.489A>G (p.Leu163=) n.736A>G c.606A>G (p.Leu202=) c.114A>G (p.Leu38=) c.519A>G (p.Leu173=) c.252A>G (p.Leu84=) c.249A>G (p.Leu83=) n.659A>G n.611A>G | dbSNP |