UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.19918919del | CA638367411 | TXNRD2 | c.316del (p.Leu106Ter) c.226del (p.Leu76Ter) c.313del (p.Leu105Ter) c.247del (p.Leu83Ter) c.259del (p.Leu87Ter) c.220del (p.Leu74Ter) n.321del c.28del (p.Leu10Ter) n.448del n.274del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19918919G>A | CA513369072 | TXNRD2 | c.315C>T (p.Gly105=) c.225C>T (p.Gly75=) c.312C>T (p.Gly104=) c.246C>T (p.Gly82=) c.258C>T (p.Gly86=) c.219C>T (p.Gly73=) n.320C>T c.27C>T (p.Gly9=) n.447C>T n.273C>T | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.19918919G>C | CA513369071 | TXNRD2 | c.315C>G (p.Gly105=) c.225C>G (p.Gly75=) c.312C>G (p.Gly104=) c.246C>G (p.Gly82=) c.258C>G (p.Gly86=) c.219C>G (p.Gly73=) n.320C>G c.27C>G (p.Gly9=) n.447C>G n.273C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19918919G= | CA2396103750 | TXNRD2 | c.315C= (p.Gly105=) c.225C= (p.Gly75=) c.312C= (p.Gly104=) c.246C= (p.Gly82=) c.258C= (p.Gly86=) c.219C= (p.Gly73=) n.320C= c.27C= (p.Gly9=) n.447C= n.273C= | |
| 22 | g.19918919G>T | CA513369070 | TXNRD2 | c.315C>A (p.Gly105=) c.225C>A (p.Gly75=) c.312C>A (p.Gly104=) c.246C>A (p.Gly82=) c.258C>A (p.Gly86=) c.219C>A (p.Gly73=) n.320C>A c.27C>A (p.Gly9=) n.447C>A n.273C>A | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.19918920C>A | CA410693823 | TXNRD2 | c.314G>T (p.Gly105Val) c.224G>T (p.Gly75Val) c.311G>T (p.Gly104Val) c.245G>T (p.Gly82Val) c.257G>T (p.Gly86Val) c.218G>T (p.Gly73Val) n.319G>T c.26G>T (p.Gly9Val) n.446G>T n.272G>T | |
| 22 | g.19918920C= | CA2396103751 | TXNRD2 | c.314G= (p.Gly105=) c.224G= (p.Gly75=) c.311G= (p.Gly104=) c.245G= (p.Gly82=) c.257G= (p.Gly86=) c.218G= (p.Gly73=) n.319G= c.26G= (p.Gly9=) n.446G= n.272G= | |
| 22 | g.19918920C>G | CA410693825 | TXNRD2 | c.314G>C (p.Gly105Ala) c.224G>C (p.Gly75Ala) c.311G>C (p.Gly104Ala) c.245G>C (p.Gly82Ala) c.257G>C (p.Gly86Ala) c.218G>C (p.Gly73Ala) n.319G>C c.26G>C (p.Gly9Ala) n.446G>C n.272G>C | |
| 22 | g.19918920C>T | CA10104263 | TXNRD2 | c.314G>A (p.Gly105Asp) c.224G>A (p.Gly75Asp) c.311G>A (p.Gly104Asp) c.245G>A (p.Gly82Asp) c.257G>A (p.Gly86Asp) c.218G>A (p.Gly73Asp) n.319G>A c.26G>A (p.Gly9Asp) n.446G>A n.272G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19918921C>A | CA410693828 | TXNRD2 | c.313G>T (p.Gly105Cys) c.223G>T (p.Gly75Cys) c.310G>T (p.Gly104Cys) c.244G>T (p.Gly82Cys) c.256G>T (p.Gly86Cys) c.217G>T (p.Gly73Cys) n.318G>T c.25G>T (p.Gly9Cys) n.445G>T n.271G>T | |
| 22 | g.19918921C= | CA2396103752 | TXNRD2 | c.313G= (p.Gly105=) c.223G= (p.Gly75=) c.310G= (p.Gly104=) c.244G= (p.Gly82=) c.256G= (p.Gly86=) c.217G= (p.Gly73=) n.318G= c.25G= (p.Gly9=) n.445G= n.271G= | |
| 22 | g.19918921C>G | CA410693829 | TXNRD2 | c.313G>C (p.Gly105Arg) c.223G>C (p.Gly75Arg) c.310G>C (p.Gly104Arg) c.244G>C (p.Gly82Arg) c.256G>C (p.Gly86Arg) c.217G>C (p.Gly73Arg) n.318G>C c.25G>C (p.Gly9Arg) n.445G>C n.271G>C | |
| 22 | g.19918921C>T | CA410693831 | TXNRD2 | c.313G>A (p.Gly105Ser) c.223G>A (p.Gly75Ser) c.310G>A (p.Gly104Ser) c.244G>A (p.Gly82Ser) c.256G>A (p.Gly86Ser) c.217G>A (p.Gly73Ser) n.318G>A c.25G>A (p.Gly9Ser) n.445G>A n.271G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.19918922T>A | CA322105576 | TXNRD2 | c.312A>T (p.Gly104=) c.222A>T (p.Gly74=) c.309A>T (p.Gly103=) c.243A>T (p.Gly81=) c.255A>T (p.Gly85=) c.216A>T (p.Gly72=) n.317A>T c.24A>T (p.Gly8=) n.444A>T n.270A>T | dbSNP gnomAD v4 |
| 22 | g.19918922T>C | CA513369074 | TXNRD2 | c.312A>G (p.Gly104=) c.222A>G (p.Gly74=) c.309A>G (p.Gly103=) c.243A>G (p.Gly81=) c.255A>G (p.Gly85=) c.216A>G (p.Gly72=) n.317A>G c.24A>G (p.Gly8=) n.444A>G n.270A>G | |
| 22 | g.19918922T>G | CA513369073 | TXNRD2 | c.312A>C (p.Gly104=) c.222A>C (p.Gly74=) c.309A>C (p.Gly103=) c.243A>C (p.Gly81=) c.255A>C (p.Gly85=) c.216A>C (p.Gly72=) n.317A>C c.24A>C (p.Gly8=) n.444A>C n.270A>C | ClinVar |
| 22 | g.19918922T= | CA2396103753 | TXNRD2 | c.312A= (p.Gly104=) c.222A= (p.Gly74=) c.309A= (p.Gly103=) c.243A= (p.Gly81=) c.255A= (p.Gly85=) c.216A= (p.Gly72=) n.317A= c.24A= (p.Gly8=) n.444A= n.270A= | |
| 22 | g.19918923C>A | CA410693836 | TXNRD2 | c.311G>T (p.Gly104Val) c.221G>T (p.Gly74Val) c.308G>T (p.Gly103Val) c.242G>T (p.Gly81Val) c.254G>T (p.Gly85Val) c.215G>T (p.Gly72Val) n.316G>T c.23G>T (p.Gly8Val) n.443G>T n.269G>T | |
| 22 | g.19918923C= | CA2396103754 | TXNRD2 | c.311G= (p.Gly104=) c.221G= (p.Gly74=) c.308G= (p.Gly103=) c.242G= (p.Gly81=) c.254G= (p.Gly85=) c.215G= (p.Gly72=) n.316G= c.23G= (p.Gly8=) n.443G= n.269G= | |
| 22 | g.19918923C>G | CA410693834 | TXNRD2 | c.311G>C (p.Gly104Ala) c.221G>C (p.Gly74Ala) c.308G>C (p.Gly103Ala) c.242G>C (p.Gly81Ala) c.254G>C (p.Gly85Ala) c.215G>C (p.Gly72Ala) n.316G>C c.23G>C (p.Gly8Ala) n.443G>C n.269G>C | |
| 22 | g.19918923C>T | CA410693833 | TXNRD2 | c.311G>A (p.Gly104Glu) c.221G>A (p.Gly74Glu) c.308G>A (p.Gly103Glu) c.242G>A (p.Gly81Glu) c.254G>A (p.Gly85Glu) c.215G>A (p.Gly72Glu) n.316G>A c.23G>A (p.Gly8Glu) n.443G>A n.269G>A | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.19918924C>A | CA410693838 | TXNRD2 | c.310G>T (p.Gly104Ter) c.220G>T (p.Gly74Ter) c.307G>T (p.Gly103Ter) c.241G>T (p.Gly81Ter) c.253G>T (p.Gly85Ter) c.214G>T (p.Gly72Ter) n.315G>T c.22G>T (p.Gly8Ter) n.442G>T n.268G>T | |
| 22 | g.19918924C>G | CA410693839 | TXNRD2 | c.310G>C (p.Gly104Arg) c.220G>C (p.Gly74Arg) c.307G>C (p.Gly103Arg) c.241G>C (p.Gly81Arg) c.253G>C (p.Gly85Arg) c.214G>C (p.Gly72Arg) n.315G>C c.22G>C (p.Gly8Arg) n.442G>C n.268G>C | |
| 22 | g.19918924C>T | CA410693841 | TXNRD2 | c.310G>A (p.Gly104Arg) c.220G>A (p.Gly74Arg) c.307G>A (p.Gly103Arg) c.241G>A (p.Gly81Arg) c.253G>A (p.Gly85Arg) c.214G>A (p.Gly72Arg) n.315G>A c.22G>A (p.Gly8Arg) n.442G>A n.268G>A | |
| 22 | g.19918925C>A | CA513369076 | TXNRD2 | c.309G>T (p.Leu103=) c.219G>T (p.Leu73=) c.306G>T (p.Leu102=) c.240G>T (p.Leu80=) c.252G>T (p.Leu84=) c.213G>T (p.Leu71=) n.314G>T c.21G>T (p.Leu7=) n.441G>T n.267G>T | |
| 22 | g.19918925C= | CA2396103755 | TXNRD2 | c.309G= (p.Leu103=) c.219G= (p.Leu73=) c.306G= (p.Leu102=) c.240G= (p.Leu80=) c.252G= (p.Leu84=) c.213G= (p.Leu71=) n.314G= c.21G= (p.Leu7=) n.441G= n.267G= | |
| 22 | g.19918925C>G | CA513369075 | TXNRD2 | c.309G>C (p.Leu103=) c.219G>C (p.Leu73=) c.306G>C (p.Leu102=) c.240G>C (p.Leu80=) c.252G>C (p.Leu84=) c.213G>C (p.Leu71=) n.314G>C c.21G>C (p.Leu7=) n.441G>C n.267G>C | |
| 22 | g.19918925C>T | CA10104264 | TXNRD2 | c.309G>A (p.Leu103=) c.219G>A (p.Leu73=) c.306G>A (p.Leu102=) c.240G>A (p.Leu80=) c.252G>A (p.Leu84=) c.213G>A (p.Leu71=) n.314G>A c.21G>A (p.Leu7=) n.441G>A n.267G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 22 | g.19918926A= | CA2396103756 | TXNRD2 | c.308T= (p.Leu103=) c.218T= (p.Leu73=) c.305T= (p.Leu102=) c.239T= (p.Leu80=) c.251T= (p.Leu84=) c.212T= (p.Leu71=) n.313T= c.20T= (p.Leu7=) n.440T= n.266T= | |
| 22 | g.19918926A>C | CA410693843 | TXNRD2 | c.308T>G (p.Leu103Arg) c.218T>G (p.Leu73Arg) c.305T>G (p.Leu102Arg) c.239T>G (p.Leu80Arg) c.251T>G (p.Leu84Arg) c.212T>G (p.Leu71Arg) n.313T>G c.20T>G (p.Leu7Arg) n.440T>G n.266T>G | |
| 22 | g.19918926A>G | CA410693845 | TXNRD2 | c.308T>C (p.Leu103Pro) c.218T>C (p.Leu73Pro) c.305T>C (p.Leu102Pro) c.239T>C (p.Leu80Pro) c.251T>C (p.Leu84Pro) c.212T>C (p.Leu71Pro) n.313T>C c.20T>C (p.Leu7Pro) n.440T>C n.266T>C | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.19918926A>T | CA410693846 | TXNRD2 | c.308T>A (p.Leu103Gln) c.218T>A (p.Leu73Gln) c.305T>A (p.Leu102Gln) c.239T>A (p.Leu80Gln) c.251T>A (p.Leu84Gln) c.212T>A (p.Leu71Gln) n.313T>A c.20T>A (p.Leu7Gln) n.440T>A n.266T>A | |
| 22 | g.19918927G>A | CA10104265 | TXNRD2 | c.307C>T (p.Leu103=) c.217C>T (p.Leu73=) c.304C>T (p.Leu102=) c.238C>T (p.Leu80=) c.250C>T (p.Leu84=) c.211C>T (p.Leu71=) n.312C>T c.19C>T (p.Leu7=) n.439C>T n.265C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19918927G>C | CA410693848 | TXNRD2 | c.307C>G (p.Leu103Val) c.217C>G (p.Leu73Val) c.304C>G (p.Leu102Val) c.238C>G (p.Leu80Val) c.250C>G (p.Leu84Val) c.211C>G (p.Leu71Val) n.312C>G c.19C>G (p.Leu7Val) n.439C>G n.265C>G | |
| 22 | g.19918927G= | CA2396103757 | TXNRD2 | c.307C= (p.Leu103=) c.217C= (p.Leu73=) c.304C= (p.Leu102=) c.238C= (p.Leu80=) c.250C= (p.Leu84=) c.211C= (p.Leu71=) n.312C= c.19C= (p.Leu7=) n.439C= n.265C= | |
| 22 | g.19918927G>T | CA410693850 | TXNRD2 | c.307C>A (p.Leu103Met) c.217C>A (p.Leu73Met) c.304C>A (p.Leu102Met) c.238C>A (p.Leu80Met) c.250C>A (p.Leu84Met) c.211C>A (p.Leu71Met) n.312C>A c.19C>A (p.Leu7Met) n.439C>A n.265C>A | |
| 22 | g.19918928C>A | CA513369079 | TXNRD2 | c.306G>T (p.Leu102=) c.216G>T (p.Leu72=) c.303G>T (p.Leu101=) c.237G>T (p.Leu79=) c.249G>T (p.Leu83=) c.210G>T (p.Leu70=) n.311G>T c.18G>T (p.Leu6=) n.438G>T n.264G>T | gnomAD v4 |
| 22 | g.19918928C= | CA2396103758 | TXNRD2 | c.306G= (p.Leu102=) c.216G= (p.Leu72=) c.303G= (p.Leu101=) c.237G= (p.Leu79=) c.249G= (p.Leu83=) c.210G= (p.Leu70=) n.311G= c.18G= (p.Leu6=) n.438G= n.264G= | |
| 22 | g.19918928C>G | CA513369078 | TXNRD2 | c.306G>C (p.Leu102=) c.216G>C (p.Leu72=) c.303G>C (p.Leu101=) c.237G>C (p.Leu79=) c.249G>C (p.Leu83=) c.210G>C (p.Leu70=) n.311G>C c.18G>C (p.Leu6=) n.438G>C n.264G>C | |
| 22 | g.19918928C>T | CA513369077 | TXNRD2 | c.306G>A (p.Leu102=) c.216G>A (p.Leu72=) c.303G>A (p.Leu101=) c.237G>A (p.Leu79=) c.249G>A (p.Leu83=) c.210G>A (p.Leu70=) n.311G>A c.18G>A (p.Leu6=) n.438G>A n.264G>A | dbSNP gnomAD v4 |
| 22 | g.19918929A>C | CA410693852 | TXNRD2 | c.305T>G (p.Leu102Arg) c.215T>G (p.Leu72Arg) c.302T>G (p.Leu101Arg) c.236T>G (p.Leu79Arg) c.248T>G (p.Leu83Arg) c.209T>G (p.Leu70Arg) n.310T>G c.17T>G (p.Leu6Arg) n.437T>G n.263T>G | |
| 22 | g.19918929A>G | CA410693853 | TXNRD2 | c.305T>C (p.Leu102Pro) c.215T>C (p.Leu72Pro) c.302T>C (p.Leu101Pro) c.236T>C (p.Leu79Pro) c.248T>C (p.Leu83Pro) c.209T>C (p.Leu70Pro) n.310T>C c.17T>C (p.Leu6Pro) n.437T>C n.263T>C | |
| 22 | g.19918929A>T | CA410693855 | TXNRD2 | c.305T>A (p.Leu102Gln) c.215T>A (p.Leu72Gln) c.302T>A (p.Leu101Gln) c.236T>A (p.Leu79Gln) c.248T>A (p.Leu83Gln) c.209T>A (p.Leu70Gln) n.310T>A c.17T>A (p.Leu6Gln) n.437T>A n.263T>A | |
| 22 | g.19918930G>A | CA513369080 | TXNRD2 | c.304C>T (p.Leu102=) c.214C>T (p.Leu72=) c.301C>T (p.Leu101=) c.235C>T (p.Leu79=) c.247C>T (p.Leu83=) c.208C>T (p.Leu70=) n.309C>T c.16C>T (p.Leu6=) n.436C>T n.262C>T | |
| 22 | g.19918930G>C | CA410693857 | TXNRD2 | c.304C>G (p.Leu102Val) c.214C>G (p.Leu72Val) c.301C>G (p.Leu101Val) c.235C>G (p.Leu79Val) c.247C>G (p.Leu83Val) c.208C>G (p.Leu70Val) n.309C>G c.16C>G (p.Leu6Val) n.436C>G n.262C>G | |
| 22 | g.19918930G>T | CA410693858 | TXNRD2 | c.304C>A (p.Leu102Met) c.214C>A (p.Leu72Met) c.301C>A (p.Leu101Met) c.235C>A (p.Leu79Met) c.247C>A (p.Leu83Met) c.208C>A (p.Leu70Met) n.309C>A c.16C>A (p.Leu6Met) n.436C>A n.262C>A | gnomAD v4 |
| 22 | g.19918931T>A | CA513369081 | TXNRD2 | c.303A>T (p.Ala101=) c.213A>T (p.Ala71=) c.300A>T (p.Ala100=) c.234A>T (p.Ala78=) c.246A>T (p.Ala82=) c.207A>T (p.Ala69=) n.308A>T c.15A>T (p.Ala5=) n.435A>T n.261A>T | |
| 22 | g.19918931T>C | CA10104266 | TXNRD2 | c.303A>G (p.Ala101=) c.213A>G (p.Ala71=) c.300A>G (p.Ala100=) c.234A>G (p.Ala78=) c.246A>G (p.Ala82=) c.207A>G (p.Ala69=) n.308A>G c.15A>G (p.Ala5=) n.435A>G n.261A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19918931T>G | CA10104267 | TXNRD2 | c.303A>C (p.Ala101=) c.213A>C (p.Ala71=) c.300A>C (p.Ala100=) c.234A>C (p.Ala78=) c.246A>C (p.Ala82=) c.207A>C (p.Ala69=) n.308A>C c.15A>C (p.Ala5=) n.435A>C n.261A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.19918931T= | CA2396103759 | TXNRD2 | c.303A= (p.Ala101=) c.213A= (p.Ala71=) c.300A= (p.Ala100=) c.234A= (p.Ala78=) c.246A= (p.Ala82=) c.207A= (p.Ala69=) n.308A= c.15A= (p.Ala5=) n.435A= n.261A= |