Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.19918917_19918918delinsAG | CA2396103748 | TXNRD2 | c.316_317delinsCT (p.Leu106=) c.226_227delinsCT (p.Leu76=) c.313_314delinsCT (p.Leu105=) c.247_248delinsCT (p.Leu83=) c.259_260delinsCT (p.Leu87=) c.220_221delinsCT (p.Leu74=) n.321_322delinsCT c.28_29delinsCT (p.Leu10=) n.448_449delinsCT n.274_275delinsCT | |
22 | g.19918918G>A | CA513369069 | TXNRD2 | c.316C>T (p.Leu106=) c.226C>T (p.Leu76=) c.313C>T (p.Leu105=) c.247C>T (p.Leu83=) c.259C>T (p.Leu87=) c.220C>T (p.Leu74=) n.321C>T c.28C>T (p.Leu10=) n.448C>T n.274C>T | dbSNP gnomAD v3 gnomAD v4 |
22 | g.19918918G>C | CA410693820 | TXNRD2 | c.316C>G (p.Leu106Val) c.226C>G (p.Leu76Val) c.313C>G (p.Leu105Val) c.247C>G (p.Leu83Val) c.259C>G (p.Leu87Val) c.220C>G (p.Leu74Val) n.321C>G c.28C>G (p.Leu10Val) n.448C>G n.274C>G | |
22 | g.19918918G= | CA2396103749 | TXNRD2 | c.316C= (p.Leu106=) c.226C= (p.Leu76=) c.313C= (p.Leu105=) c.247C= (p.Leu83=) c.259C= (p.Leu87=) c.220C= (p.Leu74=) n.321C= c.28C= (p.Leu10=) n.448C= n.274C= | |
22 | g.19918918G>T | CA410693821 | TXNRD2 | c.316C>A (p.Leu106Met) c.226C>A (p.Leu76Met) c.313C>A (p.Leu105Met) c.247C>A (p.Leu83Met) c.259C>A (p.Leu87Met) c.220C>A (p.Leu74Met) n.321C>A c.28C>A (p.Leu10Met) n.448C>A n.274C>A | |
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= | |
22 | g.19918932G>A | CA410693861 | TXNRD2 | c.302C>T (p.Ala101Val) c.212C>T (p.Ala71Val) c.299C>T (p.Ala100Val) c.233C>T (p.Ala78Val) c.245C>T (p.Ala82Val) c.206C>T (p.Ala69Val) n.307C>T c.14C>T (p.Ala5Val) n.434C>T n.260C>T | dbSNP gnomAD v2 |
22 | g.19918932G>C | CA410693863 | TXNRD2 | c.302C>G (p.Ala101Gly) c.212C>G (p.Ala71Gly) c.299C>G (p.Ala100Gly) c.233C>G (p.Ala78Gly) c.245C>G (p.Ala82Gly) c.206C>G (p.Ala69Gly) n.307C>G c.14C>G (p.Ala5Gly) n.434C>G n.260C>G | |
22 | g.19918932G= | CA2396103760 | TXNRD2 | c.302C= (p.Ala101=) c.212C= (p.Ala71=) c.299C= (p.Ala100=) c.233C= (p.Ala78=) c.245C= (p.Ala82=) c.206C= (p.Ala69=) n.307C= c.14C= (p.Ala5=) n.434C= n.260C= | |
22 | g.19918932G>T | CA322105577 | TXNRD2 | c.302C>A (p.Ala101Glu) c.212C>A (p.Ala71Glu) c.299C>A (p.Ala100Glu) c.233C>A (p.Ala78Glu) c.245C>A (p.Ala82Glu) c.206C>A (p.Ala69Glu) n.307C>A c.14C>A (p.Ala5Glu) n.434C>A n.260C>A | dbSNP |
22 | g.19918933C>A | CA410693865 | TXNRD2 | c.301G>T (p.Ala101Ser) c.211G>T (p.Ala71Ser) c.298G>T (p.Ala100Ser) c.232G>T (p.Ala78Ser) c.244G>T (p.Ala82Ser) c.205G>T (p.Ala69Ser) n.306G>T c.13G>T (p.Ala5Ser) n.433G>T n.259G>T | |
22 | g.19918933C= | CA2396103761 | TXNRD2 | c.301G= (p.Ala101=) c.211G= (p.Ala71=) c.298G= (p.Ala100=) c.232G= (p.Ala78=) c.244G= (p.Ala82=) c.205G= (p.Ala69=) n.306G= c.13G= (p.Ala5=) n.433G= n.259G= | |
22 | g.19918933C>G | CA410693867 | TXNRD2 | c.301G>C (p.Ala101Pro) c.211G>C (p.Ala71Pro) c.298G>C (p.Ala100Pro) c.232G>C (p.Ala78Pro) c.244G>C (p.Ala82Pro) c.205G>C (p.Ala69Pro) n.306G>C c.13G>C (p.Ala5Pro) n.433G>C n.259G>C | |
22 | g.19918933C>T | CA410693869 | TXNRD2 | c.301G>A (p.Ala101Thr) c.211G>A (p.Ala71Thr) c.298G>A (p.Ala100Thr) c.232G>A (p.Ala78Thr) c.244G>A (p.Ala82Thr) c.205G>A (p.Ala69Thr) n.306G>A c.13G>A (p.Ala5Thr) n.433G>A n.259G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918934C>A | CA513369083 | TXNRD2 | c.300G>T (p.Ala100=) c.210G>T (p.Ala70=) c.297G>T (p.Ala99=) c.231G>T (p.Ala77=) c.243G>T (p.Ala81=) c.204G>T (p.Ala68=) n.305G>T c.12G>T (p.Ala4=) n.432G>T n.258G>T | dbSNP |
22 | g.19918934C= | CA2396103762 | TXNRD2 | c.300G= (p.Ala100=) c.210G= (p.Ala70=) c.297G= (p.Ala99=) c.231G= (p.Ala77=) c.243G= (p.Ala81=) c.204G= (p.Ala68=) n.305G= c.12G= (p.Ala4=) n.432G= n.258G= | |
22 | g.19918934C>G | CA513369082 | TXNRD2 | c.300G>C (p.Ala100=) c.210G>C (p.Ala70=) c.297G>C (p.Ala99=) c.231G>C (p.Ala77=) c.243G>C (p.Ala81=) c.204G>C (p.Ala68=) n.305G>C c.12G>C (p.Ala4=) n.432G>C n.258G>C | dbSNP |
22 | g.19918934C>T | CA322105578 | TXNRD2 | c.300G>A (p.Ala100=) c.210G>A (p.Ala70=) c.297G>A (p.Ala99=) c.231G>A (p.Ala77=) c.243G>A (p.Ala81=) c.204G>A (p.Ala68=) n.305G>A c.12G>A (p.Ala4=) n.432G>A n.258G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.19918935G>A | CA10104268 | TXNRD2 | c.299C>T (p.Ala100Val) c.209C>T (p.Ala70Val) c.296C>T (p.Ala99Val) c.230C>T (p.Ala77Val) c.242C>T (p.Ala81Val) c.203C>T (p.Ala68Val) n.304C>T c.11C>T (p.Ala4Val) n.431C>T n.257C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918935G>C | CA410693870 | TXNRD2 | c.299C>G (p.Ala100Gly) c.209C>G (p.Ala70Gly) c.296C>G (p.Ala99Gly) c.230C>G (p.Ala77Gly) c.242C>G (p.Ala81Gly) c.203C>G (p.Ala68Gly) n.304C>G c.11C>G (p.Ala4Gly) n.431C>G n.257C>G | |
22 | g.19918935G= | CA2396103763 | TXNRD2 | c.299C= (p.Ala100=) c.209C= (p.Ala70=) c.296C= (p.Ala99=) c.230C= (p.Ala77=) c.242C= (p.Ala81=) c.203C= (p.Ala68=) n.304C= c.11C= (p.Ala4=) n.431C= n.257C= | |
22 | g.19918935G>T | CA410693871 | TXNRD2 | c.299C>A (p.Ala100Glu) c.209C>A (p.Ala70Glu) c.296C>A (p.Ala99Glu) c.230C>A (p.Ala77Glu) c.242C>A (p.Ala81Glu) c.203C>A (p.Ala68Glu) n.304C>A c.11C>A (p.Ala4Glu) n.431C>A n.257C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918936C>A | CA410693876 | TXNRD2 | c.298G>T (p.Ala100Ser) c.208G>T (p.Ala70Ser) c.295G>T (p.Ala99Ser) c.229G>T (p.Ala77Ser) c.241G>T (p.Ala81Ser) c.202G>T (p.Ala68Ser) n.303G>T c.10G>T (p.Ala4Ser) n.430G>T n.256G>T | |
22 | g.19918936C>G | CA410693874 | TXNRD2 | c.298G>C (p.Ala100Pro) c.208G>C (p.Ala70Pro) c.295G>C (p.Ala99Pro) c.229G>C (p.Ala77Pro) c.241G>C (p.Ala81Pro) c.202G>C (p.Ala68Pro) n.303G>C c.10G>C (p.Ala4Pro) n.430G>C n.256G>C | |
22 | g.19918936C>T | CA410693873 | TXNRD2 | c.298G>A (p.Ala100Thr) c.208G>A (p.Ala70Thr) c.295G>A (p.Ala99Thr) c.229G>A (p.Ala77Thr) c.241G>A (p.Ala81Thr) c.202G>A (p.Ala68Thr) n.303G>A c.10G>A (p.Ala4Thr) n.430G>A n.256G>A | |
22 | g.19918937C>A | CA410693877 | TXNRD2 | c.297G>T (p.Gln99His) c.207G>T (p.Gln69His) c.294G>T (p.Gln98His) c.228G>T (p.Gln76His) c.240G>T (p.Gln80His) c.201G>T (p.Gln67His) n.302G>T c.9G>T (p.Gln3His) n.429G>T n.255G>T | |
22 | g.19918937C>G | CA410693879 | TXNRD2 | c.297G>C (p.Gln99His) c.207G>C (p.Gln69His) c.294G>C (p.Gln98His) c.228G>C (p.Gln76His) c.240G>C (p.Gln80His) c.201G>C (p.Gln67His) n.302G>C c.9G>C (p.Gln3His) n.429G>C n.255G>C | |
22 | g.19918937C>T | CA513369084 | TXNRD2 | c.297G>A (p.Gln99=) c.207G>A (p.Gln69=) c.294G>A (p.Gln98=) c.228G>A (p.Gln76=) c.240G>A (p.Gln80=) c.201G>A (p.Gln67=) n.302G>A c.9G>A (p.Gln3=) n.429G>A n.255G>A | |
22 | g.19918938T>A | CA410693881 | TXNRD2 | c.296A>T (p.Gln99Leu) c.206A>T (p.Gln69Leu) c.293A>T (p.Gln98Leu) c.227A>T (p.Gln76Leu) c.239A>T (p.Gln80Leu) c.200A>T (p.Gln67Leu) n.301A>T c.8A>T (p.Gln3Leu) n.428A>T n.254A>T | |
22 | g.19918938T>C | CA410693883 | TXNRD2 | c.296A>G (p.Gln99Arg) c.206A>G (p.Gln69Arg) c.293A>G (p.Gln98Arg) c.227A>G (p.Gln76Arg) c.239A>G (p.Gln80Arg) c.200A>G (p.Gln67Arg) n.301A>G c.8A>G (p.Gln3Arg) n.428A>G n.254A>G | gnomAD v4 |
22 | g.19918938T>G | CA410693884 | TXNRD2 | c.296A>C (p.Gln99Pro) c.206A>C (p.Gln69Pro) c.293A>C (p.Gln98Pro) c.227A>C (p.Gln76Pro) c.239A>C (p.Gln80Pro) c.200A>C (p.Gln67Pro) n.301A>C c.8A>C (p.Gln3Pro) n.428A>C n.254A>C | |
22 | g.19918939G>A | CA410693886 | TXNRD2 | c.295C>T (p.Gln99Ter) c.205C>T (p.Gln69Ter) c.292C>T (p.Gln98Ter) c.226C>T (p.Gln76Ter) c.238C>T (p.Gln80Ter) c.199C>T (p.Gln67Ter) n.300C>T c.7C>T (p.Gln3Ter) n.427C>T n.253C>T | gnomAD v4 |
22 | g.19918939G>C | CA410693888 | TXNRD2 | c.295C>G (p.Gln99Glu) c.205C>G (p.Gln69Glu) c.292C>G (p.Gln98Glu) c.226C>G (p.Gln76Glu) c.238C>G (p.Gln80Glu) c.199C>G (p.Gln67Glu) n.300C>G c.7C>G (p.Gln3Glu) n.427C>G n.253C>G | |
22 | g.19918939G>T | CA410693889 | TXNRD2 | c.295C>A (p.Gln99Lys) c.205C>A (p.Gln69Lys) c.292C>A (p.Gln98Lys) c.226C>A (p.Gln76Lys) c.238C>A (p.Gln80Lys) c.199C>A (p.Gln67Lys) n.300C>A c.7C>A (p.Gln3Lys) n.427C>A n.253C>A | |
22 | g.19918940G>A | CA513369085 | TXNRD2 | c.294C>T (p.His98=) c.204C>T (p.His68=) c.291C>T (p.His97=) c.225C>T (p.His75=) c.237C>T (p.His79=) c.198C>T (p.His66=) n.299C>T c.6C>T (p.His2=) n.426C>T n.252C>T | dbSNP gnomAD v2 |
22 | g.19918940G>C | CA410693892 | TXNRD2 | c.294C>G (p.His98Gln) c.204C>G (p.His68Gln) c.291C>G (p.His97Gln) c.225C>G (p.His75Gln) c.237C>G (p.His79Gln) c.198C>G (p.His66Gln) n.299C>G c.6C>G (p.His2Gln) n.426C>G n.252C>G | |
22 | g.19918940G= | CA2396103764 | TXNRD2 | c.294C= (p.His98=) c.204C= (p.His68=) c.291C= (p.His97=) c.225C= (p.His75=) c.237C= (p.His79=) c.198C= (p.His66=) n.299C= c.6C= (p.His2=) n.426C= n.252C= | |
22 | g.19918940G>T | CA410693891 | TXNRD2 | c.294C>A (p.His98Gln) c.204C>A (p.His68Gln) c.291C>A (p.His97Gln) c.225C>A (p.His75Gln) c.237C>A (p.His79Gln) c.198C>A (p.His66Gln) n.299C>A c.6C>A (p.His2Gln) n.426C>A n.252C>A | dbSNP |
22 | g.19918941T>A | CA410693894 | TXNRD2 | c.293A>T (p.His98Leu) c.203A>T (p.His68Leu) c.290A>T (p.His97Leu) c.224A>T (p.His75Leu) c.236A>T (p.His79Leu) c.197A>T (p.His66Leu) n.298A>T c.5A>T (p.His2Leu) n.425A>T n.251A>T | |
22 | g.19918941T>C | CA410693895 | TXNRD2 | c.293A>G (p.His98Arg) c.203A>G (p.His68Arg) c.290A>G (p.His97Arg) c.224A>G (p.His75Arg) c.236A>G (p.His79Arg) c.197A>G (p.His66Arg) n.298A>G c.5A>G (p.His2Arg) n.425A>G n.251A>G | |
22 | g.19918941T>G | CA410693896 | TXNRD2 | c.293A>C (p.His98Pro) c.203A>C (p.His68Pro) c.290A>C (p.His97Pro) c.224A>C (p.His75Pro) c.236A>C (p.His79Pro) c.197A>C (p.His66Pro) n.298A>C c.5A>C (p.His2Pro) n.425A>C n.251A>C | |
22 | g.19918941dup | CA2842906888 | TXNRD2 | c.293dup (p.His98GlnfsTer27) c.203dup (p.His68GlnfsTer27) c.290dup (p.His97GlnfsTer27) c.224dup (p.His75GlnfsTer27) c.236dup (p.His79GlnfsTer27) c.197dup (p.His66GlnfsTer27) n.298dup c.5dup (p.His2GlnfsTer27) n.425dup n.251dup | |
22 | g.19918942G>A | CA410693898 | TXNRD2 | c.292C>T (p.His98Tyr) c.202C>T (p.His68Tyr) c.289C>T (p.His97Tyr) c.223C>T (p.His75Tyr) c.235C>T (p.His79Tyr) c.196C>T (p.His66Tyr) n.297C>T c.4C>T (p.His2Tyr) n.424C>T n.250C>T | dbSNP gnomAD v2 gnomAD v4 |
22 | g.19918942G>C | CA410693900 | TXNRD2 | c.292C>G (p.His98Asp) c.202C>G (p.His68Asp) c.289C>G (p.His97Asp) c.223C>G (p.His75Asp) c.235C>G (p.His79Asp) c.196C>G (p.His66Asp) n.297C>G c.4C>G (p.His2Asp) n.424C>G n.250C>G | |
22 | g.19918942G= | CA2396103765 | TXNRD2 | c.292C= (p.His98=) c.202C= (p.His68=) c.289C= (p.His97=) c.223C= (p.His75=) c.235C= (p.His79=) c.196C= (p.His66=) n.297C= c.4C= (p.His2=) n.424C= n.250C= | |
22 | g.19918942G>T | CA410693901 | TXNRD2 | c.292C>A (p.His98Asn) c.202C>A (p.His68Asn) c.289C>A (p.His97Asn) c.223C>A (p.His75Asn) c.235C>A (p.His79Asn) c.196C>A (p.His66Asn) n.297C>A c.4C>A (p.His2Asn) n.424C>A n.250C>A | gnomAD v4 |
22 | g.19918943C>A | CA410693903 | TXNRD2 | c.291G>T (p.Met97Ile) c.201G>T (p.Met67Ile) c.288G>T (p.Met96Ile) c.222G>T (p.Met74Ile) c.234G>T (p.Met78Ile) c.195G>T (p.Met65Ile) n.296G>T c.3G>T (p.Met1Ile) n.423G>T n.249G>T | gnomAD v4 |
22 | g.19918943C>G | CA410693905 | TXNRD2 | c.291G>C (p.Met97Ile) c.201G>C (p.Met67Ile) c.288G>C (p.Met96Ile) c.222G>C (p.Met74Ile) c.234G>C (p.Met78Ile) c.195G>C (p.Met65Ile) n.296G>C c.3G>C (p.Met1Ile) n.423G>C n.249G>C | |
22 | g.19918943C>T | CA410693904 | TXNRD2 | c.291G>A (p.Met97Ile) c.201G>A (p.Met67Ile) c.288G>A (p.Met96Ile) c.222G>A (p.Met74Ile) c.234G>A (p.Met78Ile) c.195G>A (p.Met65Ile) n.296G>A c.3G>A (p.Met1Ile) n.423G>A n.249G>A | dbSNP |
22 | g.19918944A>C | CA410693906 | TXNRD2 | c.290T>G (p.Met97Arg) c.200T>G (p.Met67Arg) c.287T>G (p.Met96Arg) c.221T>G (p.Met74Arg) c.233T>G (p.Met78Arg) c.194T>G (p.Met65Arg) n.295T>G c.2T>G (p.Met1Arg) n.422T>G n.248T>G | |
22 | g.19918944A>G | CA410693908 | TXNRD2 | c.290T>C (p.Met97Thr) c.200T>C (p.Met67Thr) c.287T>C (p.Met96Thr) c.221T>C (p.Met74Thr) c.233T>C (p.Met78Thr) c.194T>C (p.Met65Thr) n.295T>C c.2T>C (p.Met1Thr) n.422T>C n.248T>C | |
22 | g.19918944A>T | CA410693910 | TXNRD2 | c.290T>A (p.Met97Lys) c.200T>A (p.Met67Lys) c.287T>A (p.Met96Lys) c.221T>A (p.Met74Lys) c.233T>A (p.Met78Lys) c.194T>A (p.Met65Lys) n.295T>A c.2T>A (p.Met1Lys) n.422T>A n.248T>A | |
22 | g.19918945T>A | CA410693912 | TXNRD2 | c.289A>T (p.Met97Leu) c.199A>T (p.Met67Leu) c.286A>T (p.Met96Leu) c.220A>T (p.Met74Leu) c.232A>T (p.Met78Leu) c.193A>T (p.Met65Leu) n.294A>T c.1A>T (p.Met1Leu) n.421A>T n.247A>T | dbSNP |
22 | g.19918945T>C | CA410693913 | TXNRD2 | c.289A>G (p.Met97Val) c.199A>G (p.Met67Val) c.286A>G (p.Met96Val) c.220A>G (p.Met74Val) c.232A>G (p.Met78Val) c.193A>G (p.Met65Val) n.294A>G c.1A>G (p.Met1Val) n.421A>G n.247A>G | |
22 | g.19918945T>G | CA410693914 | TXNRD2 | c.289A>C (p.Met97Leu) c.199A>C (p.Met67Leu) c.286A>C (p.Met96Leu) c.220A>C (p.Met74Leu) c.232A>C (p.Met78Leu) c.193A>C (p.Met65Leu) n.294A>C c.1A>C (p.Met1Leu) n.421A>C n.247A>C | dbSNP gnomAD v3 gnomAD v4 |
22 | g.19918945T= | CA2396103766 | TXNRD2 | c.289A= (p.Met97=) c.199A= (p.Met67=) c.286A= (p.Met96=) c.220A= (p.Met74=) c.232A= (p.Met78=) c.193A= (p.Met65=) n.294A= c.1A= (p.Met1=) n.421A= n.247A= | |
22 | g.19918946C>A | CA513369088 | TXNRD2 | c.288G>T (p.Leu96=) c.198G>T (p.Leu66=) c.285G>T (p.Leu95=) c.219G>T (p.Leu73=) c.231G>T (p.Leu77=) c.192G>T (p.Leu64=) n.293G>T c.-1G>T (n.-1G>T) n.420G>T n.246G>T | gnomAD v4 |
22 | g.19918946C>G | CA513369087 | TXNRD2 | c.288G>C (p.Leu96=) c.198G>C (p.Leu66=) c.285G>C (p.Leu95=) c.219G>C (p.Leu73=) c.231G>C (p.Leu77=) c.192G>C (p.Leu64=) n.293G>C c.-1G>C (n.-1G>C) n.420G>C n.246G>C | |
22 | g.19918946C>T | CA513369086 | TXNRD2 | c.288G>A (p.Leu96=) c.198G>A (p.Leu66=) c.285G>A (p.Leu95=) c.219G>A (p.Leu73=) c.231G>A (p.Leu77=) c.192G>A (p.Leu64=) n.293G>A c.-1G>A (n.-1G>A) n.420G>A n.246G>A | |
22 | g.19918947A= | CA2396103767 | TXNRD2 | c.287T= (p.Leu96=) c.197T= (p.Leu66=) c.284T= (p.Leu95=) c.218T= (p.Leu73=) c.230T= (p.Leu77=) c.191T= (p.Leu64=) n.292T= c.-2T= (n.-2T=) n.419T= n.245T= | |
22 | g.19918947A>C | CA410693916 | TXNRD2 | c.287T>G (p.Leu96Arg) c.197T>G (p.Leu66Arg) c.284T>G (p.Leu95Arg) c.218T>G (p.Leu73Arg) c.230T>G (p.Leu77Arg) c.191T>G (p.Leu64Arg) n.292T>G c.-2T>G (n.-2T>G) n.419T>G n.245T>G | dbSNP |
22 | g.19918947A>G | CA410693918 | TXNRD2 | c.287T>C (p.Leu96Pro) c.197T>C (p.Leu66Pro) c.284T>C (p.Leu95Pro) c.218T>C (p.Leu73Pro) c.230T>C (p.Leu77Pro) c.191T>C (p.Leu64Pro) n.292T>C c.-2T>C (n.-2T>C) n.419T>C n.245T>C | dbSNP |
22 | g.19918947A>T | CA410693919 | TXNRD2 | c.287T>A (p.Leu96Gln) c.197T>A (p.Leu66Gln) c.284T>A (p.Leu95Gln) c.218T>A (p.Leu73Gln) c.230T>A (p.Leu77Gln) c.191T>A (p.Leu64Gln) n.292T>A c.-2T>A (n.-2T>A) n.419T>A n.245T>A | |
22 | g.19918948G>A | CA513369089 | TXNRD2 | c.286C>T (p.Leu96=) c.196C>T (p.Leu66=) c.283C>T (p.Leu95=) c.217C>T (p.Leu73=) c.229C>T (p.Leu77=) c.190C>T (p.Leu64=) n.291C>T c.-3C>T (n.-3C>T) n.418C>T n.244C>T | gnomAD v4 |
22 | g.19918948G>C | CA410693921 | TXNRD2 | c.286C>G (p.Leu96Val) c.196C>G (p.Leu66Val) c.283C>G (p.Leu95Val) c.217C>G (p.Leu73Val) c.229C>G (p.Leu77Val) c.190C>G (p.Leu64Val) n.291C>G c.-3C>G (n.-3C>G) n.418C>G n.244C>G | |
22 | g.19918948G>T | CA410693922 | TXNRD2 | c.286C>A (p.Leu96Met) c.196C>A (p.Leu66Met) c.283C>A (p.Leu95Met) c.217C>A (p.Leu73Met) c.229C>A (p.Leu77Met) c.190C>A (p.Leu64Met) n.291C>A c.-3C>A (n.-3C>A) n.418C>A n.244C>A | gnomAD v4 |
22 | g.19918949C>A | CA410693923 | TXNRD2 | c.285G>T (p.Lys95Asn) c.195G>T (p.Lys65Asn) c.282G>T (p.Lys94Asn) c.216G>T (p.Lys72Asn) c.228G>T (p.Lys76Asn) c.189G>T (p.Lys63Asn) n.290G>T c.-4G>T (n.-4G>T) n.417G>T n.243G>T | |
22 | g.19918949C>G | CA410693924 | TXNRD2 | c.285G>C (p.Lys95Asn) c.195G>C (p.Lys65Asn) c.282G>C (p.Lys94Asn) c.216G>C (p.Lys72Asn) c.228G>C (p.Lys76Asn) c.189G>C (p.Lys63Asn) n.290G>C c.-4G>C (n.-4G>C) n.417G>C n.243G>C | |
22 | g.19918949C>T | CA513369090 | TXNRD2 | c.285G>A (p.Lys95=) c.195G>A (p.Lys65=) c.282G>A (p.Lys94=) c.216G>A (p.Lys72=) c.228G>A (p.Lys76=) c.189G>A (p.Lys63=) n.290G>A c.-4G>A (n.-4G>A) n.417G>A n.243G>A | |
22 | g.19918950T>A | CA410693926 | TXNRD2 | c.284A>T (p.Lys95Met) c.194A>T (p.Lys65Met) c.281A>T (p.Lys94Met) c.215A>T (p.Lys72Met) c.227A>T (p.Lys76Met) c.188A>T (p.Lys63Met) n.289A>T c.-5A>T (n.-5A>T) n.416A>T n.242A>T | |
22 | g.19918950T>C | CA322105579 | TXNRD2 | c.284A>G (p.Lys95Arg) c.194A>G (p.Lys65Arg) c.281A>G (p.Lys94Arg) c.215A>G (p.Lys72Arg) c.227A>G (p.Lys76Arg) c.188A>G (p.Lys63Arg) n.289A>G c.-5A>G (n.-5A>G) n.416A>G n.242A>G | ClinVar dbSNP gnomAD v2 |
22 | g.19918950T>G | CA410693927 | TXNRD2 | c.284A>C (p.Lys95Thr) c.194A>C (p.Lys65Thr) c.281A>C (p.Lys94Thr) c.215A>C (p.Lys72Thr) c.227A>C (p.Lys76Thr) c.188A>C (p.Lys63Thr) n.289A>C c.-5A>C (n.-5A>C) n.416A>C n.242A>C | |
22 | g.19918950T= | CA2396103768 | TXNRD2 | c.284A= (p.Lys95=) c.194A= (p.Lys65=) c.281A= (p.Lys94=) c.215A= (p.Lys72=) c.227A= (p.Lys76=) c.188A= (p.Lys63=) n.289A= c.-5A= (n.-5A=) n.416A= n.242A= | |
22 | g.19918951T>A | CA410693928 | TXNRD2 | c.283A>T (p.Lys95Ter) c.193A>T (p.Lys65Ter) c.280A>T (p.Lys94Ter) c.214A>T (p.Lys72Ter) c.226A>T (p.Lys76Ter) c.187A>T (p.Lys63Ter) n.288A>T c.-6A>T (n.-6A>T) n.415A>T n.241A>T | |
22 | g.19918951T>C | CA410693930 | TXNRD2 | c.283A>G (p.Lys95Glu) c.193A>G (p.Lys65Glu) c.280A>G (p.Lys94Glu) c.214A>G (p.Lys72Glu) c.226A>G (p.Lys76Glu) c.187A>G (p.Lys63Glu) n.288A>G c.-6A>G (n.-6A>G) n.415A>G n.241A>G | |
22 | g.19918951T>G | CA410693931 | TXNRD2 | c.283A>C (p.Lys95Gln) c.193A>C (p.Lys65Gln) c.280A>C (p.Lys94Gln) c.214A>C (p.Lys72Gln) c.226A>C (p.Lys76Gln) c.187A>C (p.Lys63Gln) n.288A>C c.-6A>C (n.-6A>C) n.415A>C n.241A>C | |
22 | g.19918952C>A | CA410693934 | TXNRD2 | c.282G>T (p.Lys94Asn) c.192G>T (p.Lys64Asn) c.279G>T (p.Lys93Asn) c.213G>T (p.Lys71Asn) c.225G>T (p.Lys75Asn) c.186G>T (p.Lys62Asn) n.287G>T c.-7G>T (n.-7G>T) n.414G>T n.240G>T | |
22 | g.19918952C= | CA2396103769 | TXNRD2 | c.282G= (p.Lys94=) c.192G= (p.Lys64=) c.279G= (p.Lys93=) c.213G= (p.Lys71=) c.225G= (p.Lys75=) c.186G= (p.Lys62=) n.287G= c.-7G= (n.-7G=) n.414G= n.240G= | |
22 | g.19918952C>G | CA410693933 | TXNRD2 | c.282G>C (p.Lys94Asn) c.192G>C (p.Lys64Asn) c.279G>C (p.Lys93Asn) c.213G>C (p.Lys71Asn) c.225G>C (p.Lys75Asn) c.186G>C (p.Lys62Asn) n.287G>C c.-7G>C (n.-7G>C) n.414G>C n.240G>C | |
22 | g.19918952C>T | CA513369091 | TXNRD2 | c.282G>A (p.Lys94=) c.192G>A (p.Lys64=) c.279G>A (p.Lys93=) c.213G>A (p.Lys71=) c.225G>A (p.Lys75=) c.186G>A (p.Lys62=) n.287G>A c.-7G>A (n.-7G>A) n.414G>A n.240G>A | dbSNP |
22 | g.19918953T>A | CA410693935 | TXNRD2 | c.281A>T (p.Lys94Met) c.191A>T (p.Lys64Met) c.278A>T (p.Lys93Met) c.212A>T (p.Lys71Met) c.224A>T (p.Lys75Met) c.185A>T (p.Lys62Met) n.286A>T c.-8A>T (n.-8A>T) n.413A>T n.239A>T | |
22 | g.19918953T>C | CA410693936 | TXNRD2 | c.281A>G (p.Lys94Arg) c.191A>G (p.Lys64Arg) c.278A>G (p.Lys93Arg) c.212A>G (p.Lys71Arg) c.224A>G (p.Lys75Arg) c.185A>G (p.Lys62Arg) n.286A>G c.-8A>G (n.-8A>G) n.413A>G n.239A>G | gnomAD v4 |
22 | g.19918953T>G | CA410693938 | TXNRD2 | c.281A>C (p.Lys94Thr) c.191A>C (p.Lys64Thr) c.278A>C (p.Lys93Thr) c.212A>C (p.Lys71Thr) c.224A>C (p.Lys75Thr) c.185A>C (p.Lys62Thr) n.286A>C c.-8A>C (n.-8A>C) n.413A>C n.239A>C | dbSNP |
22 | g.19918954dup | CA2838274055 | TXNRD2 | c.281dup (p.Lys95GlufsTer30) c.191dup (p.Lys65GlufsTer30) c.278dup (p.Lys94GlufsTer30) c.212dup (p.Lys72GlufsTer30) c.224dup (p.Lys76GlufsTer30) c.185dup (p.Lys63GlufsTer30) n.286dup c.-8dup (n.-8dup) n.413dup n.239dup | |
22 | g.19918954T>A | CA410693939 | TXNRD2 | c.280A>T (p.Lys94Ter) c.190A>T (p.Lys64Ter) c.277A>T (p.Lys93Ter) c.211A>T (p.Lys71Ter) c.223A>T (p.Lys75Ter) c.184A>T (p.Lys62Ter) n.285A>T c.-9A>T (n.-9A>T) n.412A>T n.238A>T | |
22 | g.19918954T>C | CA410693941 | TXNRD2 | c.280A>G (p.Lys94Glu) c.190A>G (p.Lys64Glu) c.277A>G (p.Lys93Glu) c.211A>G (p.Lys71Glu) c.223A>G (p.Lys75Glu) c.184A>G (p.Lys62Glu) n.285A>G c.-9A>G (n.-9A>G) n.412A>G n.238A>G | |
22 | g.19918954T>G | CA410693943 | TXNRD2 | c.280A>C (p.Lys94Gln) c.190A>C (p.Lys64Gln) c.277A>C (p.Lys93Gln) c.211A>C (p.Lys71Gln) c.223A>C (p.Lys75Gln) c.184A>C (p.Lys62Gln) n.285A>C c.-9A>C (n.-9A>C) n.412A>C n.238A>C | |
22 | g.19918955G>A | CA513369094 | TXNRD2 | c.279C>T (p.Pro93=) c.189C>T (p.Pro63=) c.276C>T (p.Pro92=) c.210C>T (p.Pro70=) c.222C>T (p.Pro74=) c.183C>T (p.Pro61=) n.284C>T c.-10C>T (n.-10C>T) n.411C>T n.237C>T | ClinVar |
22 | g.19918955G>C | CA513369093 | TXNRD2 | c.279C>G (p.Pro93=) c.189C>G (p.Pro63=) c.276C>G (p.Pro92=) c.210C>G (p.Pro70=) c.222C>G (p.Pro74=) c.183C>G (p.Pro61=) n.284C>G c.-10C>G (n.-10C>G) n.411C>G n.237C>G | dbSNP |
22 | g.19918955G= | CA2396103770 | TXNRD2 | c.279C= (p.Pro93=) c.189C= (p.Pro63=) c.276C= (p.Pro92=) c.210C= (p.Pro70=) c.222C= (p.Pro74=) c.183C= (p.Pro61=) n.284C= c.-10C= (n.-10C=) n.411C= n.237C= | |
22 | g.19918955G>T | CA513369092 | TXNRD2 | c.279C>A (p.Pro93=) c.189C>A (p.Pro63=) c.276C>A (p.Pro92=) c.210C>A (p.Pro70=) c.222C>A (p.Pro74=) c.183C>A (p.Pro61=) n.284C>A c.-10C>A (n.-10C>A) n.411C>A n.237C>A | gnomAD v4 |
22 | g.19918956G>A | CA410693944 | TXNRD2 | c.278C>T (p.Pro93Leu) c.188C>T (p.Pro63Leu) c.275C>T (p.Pro92Leu) c.209C>T (p.Pro70Leu) c.221C>T (p.Pro74Leu) c.182C>T (p.Pro61Leu) n.283C>T c.-11C>T (n.-11C>T) n.410C>T n.236C>T | |
22 | g.19918956G>C | CA410693947 | TXNRD2 | c.278C>G (p.Pro93Arg) c.188C>G (p.Pro63Arg) c.275C>G (p.Pro92Arg) c.209C>G (p.Pro70Arg) c.221C>G (p.Pro74Arg) c.182C>G (p.Pro61Arg) n.283C>G c.-11C>G (n.-11C>G) n.410C>G n.236C>G | |
22 | g.19918956G>T | CA410693945 | TXNRD2 | c.278C>A (p.Pro93His) c.188C>A (p.Pro63His) c.275C>A (p.Pro92His) c.209C>A (p.Pro70His) c.221C>A (p.Pro74His) c.182C>A (p.Pro61His) n.283C>A c.-11C>A (n.-11C>A) n.410C>A n.236C>A | |
22 | g.19918957G>A | CA410693949 | TXNRD2 | c.277C>T (p.Pro93Ser) c.187C>T (p.Pro63Ser) c.274C>T (p.Pro92Ser) c.208C>T (p.Pro70Ser) c.220C>T (p.Pro74Ser) c.181C>T (p.Pro61Ser) n.282C>T c.-12C>T (n.-12C>T) n.409C>T n.235C>T | dbSNP |
22 | g.19918957G>C | CA410693951 | TXNRD2 | c.277C>G (p.Pro93Ala) c.187C>G (p.Pro63Ala) c.274C>G (p.Pro92Ala) c.208C>G (p.Pro70Ala) c.220C>G (p.Pro74Ala) c.181C>G (p.Pro61Ala) n.282C>G c.-12C>G (n.-12C>G) n.409C>G n.235C>G | |
22 | g.19918957G= | CA2396103771 | TXNRD2 | c.277C= (p.Pro93=) c.187C= (p.Pro63=) c.274C= (p.Pro92=) c.208C= (p.Pro70=) c.220C= (p.Pro74=) c.181C= (p.Pro61=) n.282C= c.-12C= (n.-12C=) n.409C= n.235C= | |
22 | g.19918957G>T | CA410693952 | TXNRD2 | c.277C>A (p.Pro93Thr) c.187C>A (p.Pro63Thr) c.274C>A (p.Pro92Thr) c.208C>A (p.Pro70Thr) c.220C>A (p.Pro74Thr) c.181C>A (p.Pro61Thr) n.282C>A c.-12C>A (n.-12C>A) n.409C>A n.235C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918958G>A | CA10104269 | TXNRD2 | c.276C>T (p.Ile92=) c.186C>T (p.Ile62=) c.273C>T (p.Ile91=) c.207C>T (p.Ile69=) c.219C>T (p.Ile73=) c.180C>T (p.Ile60=) n.281C>T c.-13C>T (n.-13C>T) n.408C>T n.234C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918958G>C | CA410693955 | TXNRD2 | c.276C>G (p.Ile92Met) c.186C>G (p.Ile62Met) c.273C>G (p.Ile91Met) c.207C>G (p.Ile69Met) c.219C>G (p.Ile73Met) c.180C>G (p.Ile60Met) n.281C>G c.-13C>G (n.-13C>G) n.408C>G n.234C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918958G= | CA2396103772 | TXNRD2 | c.276C= (p.Ile92=) c.186C= (p.Ile62=) c.273C= (p.Ile91=) c.207C= (p.Ile69=) c.219C= (p.Ile73=) c.180C= (p.Ile60=) n.281C= c.-13C= (n.-13C=) n.408C= n.234C= | |
22 | g.19918958G>T | CA513369095 | TXNRD2 | c.276C>A (p.Ile92=) c.186C>A (p.Ile62=) c.273C>A (p.Ile91=) c.207C>A (p.Ile69=) c.219C>A (p.Ile73=) c.180C>A (p.Ile60=) n.281C>A c.-13C>A (n.-13C>A) n.408C>A n.234C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918959A>C | CA410693957 | TXNRD2 | c.275T>G (p.Ile92Ser) c.185T>G (p.Ile62Ser) c.272T>G (p.Ile91Ser) c.206T>G (p.Ile69Ser) c.218T>G (p.Ile73Ser) c.179T>G (p.Ile60Ser) n.280T>G c.-14T>G (n.-14T>G) n.407T>G n.233T>G | |
22 | g.19918959A>G | CA410693958 | TXNRD2 | c.275T>C (p.Ile92Thr) c.185T>C (p.Ile62Thr) c.272T>C (p.Ile91Thr) c.206T>C (p.Ile69Thr) c.218T>C (p.Ile73Thr) c.179T>C (p.Ile60Thr) n.280T>C c.-14T>C (n.-14T>C) n.407T>C n.233T>C | |
22 | g.19918959A>T | CA410693959 | TXNRD2 | c.275T>A (p.Ile92Asn) c.185T>A (p.Ile62Asn) c.272T>A (p.Ile91Asn) c.206T>A (p.Ile69Asn) c.218T>A (p.Ile73Asn) c.179T>A (p.Ile60Asn) n.280T>A c.-14T>A (n.-14T>A) n.407T>A n.233T>A | |
22 | g.19918960T>A | CA410693962 | TXNRD2 | c.274A>T (p.Ile92Phe) c.184A>T (p.Ile62Phe) c.271A>T (p.Ile91Phe) c.205A>T (p.Ile69Phe) c.217A>T (p.Ile73Phe) c.178A>T (p.Ile60Phe) n.279A>T c.-15A>T (n.-15A>T) n.406A>T n.232A>T | |
22 | g.19918960T>C | CA410693963 | TXNRD2 | c.274A>G (p.Ile92Val) c.184A>G (p.Ile62Val) c.271A>G (p.Ile91Val) c.205A>G (p.Ile69Val) c.217A>G (p.Ile73Val) c.178A>G (p.Ile60Val) n.279A>G c.-15A>G (n.-15A>G) n.406A>G n.232A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918960T>G | CA410693965 | TXNRD2 | c.274A>C (p.Ile92Leu) c.184A>C (p.Ile62Leu) c.271A>C (p.Ile91Leu) c.205A>C (p.Ile69Leu) c.217A>C (p.Ile73Leu) c.178A>C (p.Ile60Leu) n.279A>C c.-15A>C (n.-15A>C) n.406A>C n.232A>C | |
22 | g.19918960T= | CA2396103773 | TXNRD2 | c.274A= (p.Ile92=) c.184A= (p.Ile62=) c.271A= (p.Ile91=) c.205A= (p.Ile69=) c.217A= (p.Ile73=) c.178A= (p.Ile60=) n.279A= c.-15A= (n.-15A=) n.406A= n.232A= | |
22 | g.19918961G>A | CA513369096 | TXNRD2 | c.273C>T (p.Cys91=) c.183C>T (p.Cys61=) c.270C>T (p.Cys90=) c.204C>T (p.Cys68=) c.216C>T (p.Cys72=) c.177C>T (p.Cys59=) n.278C>T c.-16C>T (n.-16C>T) n.405C>T n.231C>T | dbSNP gnomAD v2 gnomAD v4 |
22 | g.19918961G>C | CA410693966 | TXNRD2 | c.273C>G (p.Cys91Trp) c.183C>G (p.Cys61Trp) c.270C>G (p.Cys90Trp) c.204C>G (p.Cys68Trp) c.216C>G (p.Cys72Trp) c.177C>G (p.Cys59Trp) n.278C>G c.-16C>G (n.-16C>G) n.405C>G n.231C>G | |
22 | g.19918961G= | CA2396103774 | TXNRD2 | c.273C= (p.Cys91=) c.183C= (p.Cys61=) c.270C= (p.Cys90=) c.204C= (p.Cys68=) c.216C= (p.Cys72=) c.177C= (p.Cys59=) n.278C= c.-16C= (n.-16C=) n.405C= n.231C= | |
22 | g.19918961G>T | CA410693968 | TXNRD2 | c.273C>A (p.Cys91Ter) c.183C>A (p.Cys61Ter) c.270C>A (p.Cys90Ter) c.204C>A (p.Cys68Ter) c.216C>A (p.Cys72Ter) c.177C>A (p.Cys59Ter) n.278C>A c.-16C>A (n.-16C>A) n.405C>A n.231C>A | |
22 | g.19918962C>A | CA410693970 | TXNRD2 | c.272G>T (p.Cys91Phe) c.182G>T (p.Cys61Phe) c.269G>T (p.Cys90Phe) c.203G>T (p.Cys68Phe) c.215G>T (p.Cys72Phe) c.176G>T (p.Cys59Phe) n.277G>T c.-17G>T (n.-17G>T) n.404G>T n.230G>T | |
22 | g.19918962C= | CA2396103775 | TXNRD2 | c.272G= (p.Cys91=) c.182G= (p.Cys61=) c.269G= (p.Cys90=) c.203G= (p.Cys68=) c.215G= (p.Cys72=) c.176G= (p.Cys59=) n.277G= c.-17G= (n.-17G=) n.404G= n.230G= | |
22 | g.19918962C>G | CA410693973 | TXNRD2 | c.272G>C (p.Cys91Ser) c.182G>C (p.Cys61Ser) c.269G>C (p.Cys90Ser) c.203G>C (p.Cys68Ser) c.215G>C (p.Cys72Ser) c.176G>C (p.Cys59Ser) n.277G>C c.-17G>C (n.-17G>C) n.404G>C n.230G>C | gnomAD v4 |
22 | g.19918962C>T | CA410693972 | TXNRD2 | c.272G>A (p.Cys91Tyr) c.182G>A (p.Cys61Tyr) c.269G>A (p.Cys90Tyr) c.203G>A (p.Cys68Tyr) c.215G>A (p.Cys72Tyr) c.176G>A (p.Cys59Tyr) n.277G>A c.-17G>A (n.-17G>A) n.404G>A n.230G>A | dbSNP gnomAD v4 |
22 | g.19918963A= | CA2396103776 | TXNRD2 | c.271T= (p.Cys91=) c.181T= (p.Cys61=) c.268T= (p.Cys90=) c.202T= (p.Cys68=) c.214T= (p.Cys72=) c.175T= (p.Cys59=) n.276T= c.-18T= (n.-18T=) n.403T= n.229T= | |
22 | g.19918963A>C | CA410693976 | TXNRD2 | c.271T>G (p.Cys91Gly) c.181T>G (p.Cys61Gly) c.268T>G (p.Cys90Gly) c.202T>G (p.Cys68Gly) c.214T>G (p.Cys72Gly) c.175T>G (p.Cys59Gly) n.276T>G c.-18T>G (n.-18T>G) n.403T>G n.229T>G | |
22 | g.19918963A>G | CA322105580 | TXNRD2 | c.271T>C (p.Cys91Arg) c.181T>C (p.Cys61Arg) c.268T>C (p.Cys90Arg) c.202T>C (p.Cys68Arg) c.214T>C (p.Cys72Arg) c.175T>C (p.Cys59Arg) n.276T>C c.-18T>C (n.-18T>C) n.403T>C n.229T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918963A>T | CA410693978 | TXNRD2 | c.271T>A (p.Cys91Ser) c.181T>A (p.Cys61Ser) c.268T>A (p.Cys90Ser) c.202T>A (p.Cys68Ser) c.214T>A (p.Cys72Ser) c.175T>A (p.Cys59Ser) n.276T>A c.-18T>A (n.-18T>A) n.403T>A n.229T>A | |
22 | g.19918964G>A | CA513369099 | TXNRD2 | c.270C>T (p.Gly90=) c.180C>T (p.Gly60=) c.267C>T (p.Gly89=) c.201C>T (p.Gly67=) c.213C>T (p.Gly71=) c.174C>T (p.Gly58=) n.275C>T c.-19C>T (n.-19C>T) n.402C>T n.228C>T | |
22 | g.19918964G>C | CA513369098 | TXNRD2 | c.270C>G (p.Gly90=) c.180C>G (p.Gly60=) c.267C>G (p.Gly89=) c.201C>G (p.Gly67=) c.213C>G (p.Gly71=) c.174C>G (p.Gly58=) n.275C>G c.-19C>G (n.-19C>G) n.402C>G n.228C>G | gnomAD v4 |
22 | g.19918964G>T | CA513369097 | TXNRD2 | c.270C>A (p.Gly90=) c.180C>A (p.Gly60=) c.267C>A (p.Gly89=) c.201C>A (p.Gly67=) c.213C>A (p.Gly71=) c.174C>A (p.Gly58=) n.275C>A c.-19C>A (n.-19C>A) n.402C>A n.228C>A | gnomAD v4 |
22 | g.19918965C>A | CA410693979 | TXNRD2 | c.269G>T (p.Gly90Val) c.179G>T (p.Gly60Val) c.266G>T (p.Gly89Val) c.200G>T (p.Gly67Val) c.212G>T (p.Gly71Val) c.173G>T (p.Gly58Val) n.274G>T c.-20G>T (n.-20G>T) n.401G>T n.227G>T | |
22 | g.19918965C= | CA2396103777 | TXNRD2 | c.269G= (p.Gly90=) c.179G= (p.Gly60=) c.266G= (p.Gly89=) c.200G= (p.Gly67=) c.212G= (p.Gly71=) c.173G= (p.Gly58=) n.274G= c.-20G= (n.-20G=) n.401G= n.227G= | |
22 | g.19918965C>G | CA410693981 | TXNRD2 | c.269G>C (p.Gly90Ala) c.179G>C (p.Gly60Ala) c.266G>C (p.Gly89Ala) c.200G>C (p.Gly67Ala) c.212G>C (p.Gly71Ala) c.173G>C (p.Gly58Ala) n.274G>C c.-20G>C (n.-20G>C) n.401G>C n.227G>C | |
22 | g.19918965C>T | CA10104270 | TXNRD2 | c.269G>A (p.Gly90Asp) c.179G>A (p.Gly60Asp) c.266G>A (p.Gly89Asp) c.200G>A (p.Gly67Asp) c.212G>A (p.Gly71Asp) c.173G>A (p.Gly58Asp) n.274G>A c.-20G>A (n.-20G>A) n.401G>A n.227G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.19918967dup | CA2839264242 | TXNRD2 | c.269dup (p.Cys91LeufsTer?) c.179dup (p.Cys61LeufsTer?) c.266dup (p.Cys90LeufsTer?) c.200dup (p.Cys68LeufsTer?) c.212dup (p.Cys72LeufsTer?) c.173dup (p.Cys59LeufsTer?) n.274dup c.-20dup (n.-20dup) n.401dup n.227dup | |
22 | g.19918966C>A | CA410693983 | TXNRD2 | c.268G>T (p.Gly90Cys) c.178G>T (p.Gly60Cys) c.265G>T (p.Gly89Cys) c.199G>T (p.Gly67Cys) c.211G>T (p.Gly71Cys) c.172G>T (p.Gly58Cys) n.273G>T c.-21G>T (n.-21G>T) n.400G>T n.226G>T | |
22 | g.19918966C= | CA2396103778 | TXNRD2 | c.268G= (p.Gly90=) c.178G= (p.Gly60=) c.265G= (p.Gly89=) c.199G= (p.Gly67=) c.211G= (p.Gly71=) c.172G= (p.Gly58=) n.273G= c.-21G= (n.-21G=) n.400G= n.226G= | |
22 | g.19918966C>G | CA410693985 | TXNRD2 | c.268G>C (p.Gly90Arg) c.178G>C (p.Gly60Arg) c.265G>C (p.Gly89Arg) c.199G>C (p.Gly67Arg) c.211G>C (p.Gly71Arg) c.172G>C (p.Gly58Arg) n.273G>C c.-21G>C (n.-21G>C) n.400G>C n.226G>C | |
22 | g.19918966C>T | CA410693986 | TXNRD2 | c.268G>A (p.Gly90Ser) c.178G>A (p.Gly60Ser) c.265G>A (p.Gly89Ser) c.199G>A (p.Gly67Ser) c.211G>A (p.Gly71Ser) c.172G>A (p.Gly58Ser) n.273G>A c.-21G>A (n.-21G>A) n.400G>A n.226G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.19918967C>A | CA513369101 | TXNRD2 | c.267G>T (p.Val89=) c.177G>T (p.Val59=) c.264G>T (p.Val88=) c.198G>T (p.Val66=) c.210G>T (p.Val70=) c.171G>T (p.Val57=) n.272G>T c.-22G>T (n.-22G>T) n.399G>T n.225G>T | dbSNP gnomAD v4 |
22 | g.19918967C= | CA2396103779 | TXNRD2 | c.267G= (p.Val89=) c.177G= (p.Val59=) c.264G= (p.Val88=) c.198G= (p.Val66=) c.210G= (p.Val70=) c.171G= (p.Val57=) n.272G= c.-22G= (n.-22G=) n.399G= n.225G= | |
22 | g.19918967C>G | CA513369100 | TXNRD2 | c.267G>C (p.Val89=) c.177G>C (p.Val59=) c.264G>C (p.Val88=) c.198G>C (p.Val66=) c.210G>C (p.Val70=) c.171G>C (p.Val57=) n.272G>C c.-22G>C (n.-22G>C) n.399G>C n.225G>C | dbSNP gnomAD v3 gnomAD v4 |
22 | g.19918967C>T | CA10104271 | TXNRD2 | c.267G>A (p.Val89=) c.177G>A (p.Val59=) c.264G>A (p.Val88=) c.198G>A (p.Val66=) c.210G>A (p.Val70=) c.171G>A (p.Val57=) n.272G>A c.-22G>A (n.-22G>A) n.399G>A n.225G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918968A>C | CA410693988 | TXNRD2 | c.266T>G (p.Val89Gly) c.176T>G (p.Val59Gly) c.263T>G (p.Val88Gly) c.197T>G (p.Val66Gly) c.209T>G (p.Val70Gly) c.170T>G (p.Val57Gly) n.271T>G c.-23T>G (n.-23T>G) n.398T>G n.224T>G | |
22 | g.19918968A>G | CA410693990 | TXNRD2 | c.266T>C (p.Val89Ala) c.176T>C (p.Val59Ala) c.263T>C (p.Val88Ala) c.197T>C (p.Val66Ala) c.209T>C (p.Val70Ala) c.170T>C (p.Val57Ala) n.271T>C c.-23T>C (n.-23T>C) n.398T>C n.224T>C | |
22 | g.19918968A>T | CA410693992 | TXNRD2 | c.266T>A (p.Val89Glu) c.176T>A (p.Val59Glu) c.263T>A (p.Val88Glu) c.197T>A (p.Val66Glu) c.209T>A (p.Val70Glu) c.170T>A (p.Val57Glu) n.271T>A c.-23T>A (n.-23T>A) n.398T>A n.224T>A | |
22 | g.19918969C>A | CA410693995 | TXNRD2 | c.265G>T (p.Val89Leu) c.175G>T (p.Val59Leu) c.262G>T (p.Val88Leu) c.196G>T (p.Val66Leu) c.208G>T (p.Val70Leu) c.169G>T (p.Val57Leu) n.270G>T c.-24G>T (n.-24G>T) n.397G>T n.223G>T | |
22 | g.19918969C= | CA2396103780 | TXNRD2 | c.265G= (p.Val89=) c.175G= (p.Val59=) c.262G= (p.Val88=) c.196G= (p.Val66=) c.208G= (p.Val70=) c.169G= (p.Val57=) n.270G= c.-24G= (n.-24G=) n.397G= n.223G= | |
22 | g.19918969C>G | CA410693993 | TXNRD2 | c.265G>C (p.Val89Leu) c.175G>C (p.Val59Leu) c.262G>C (p.Val88Leu) c.196G>C (p.Val66Leu) c.208G>C (p.Val70Leu) c.169G>C (p.Val57Leu) n.270G>C c.-24G>C (n.-24G>C) n.397G>C n.223G>C | |
22 | g.19918969C>T | CA10104272 | TXNRD2 | c.265G>A (p.Val89Met) c.175G>A (p.Val59Met) c.262G>A (p.Val88Met) c.196G>A (p.Val66Met) c.208G>A (p.Val70Met) c.169G>A (p.Val57Met) n.270G>A c.-24G>A (n.-24G>A) n.397G>A n.223G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918970G>A | CA10104273 | TXNRD2 | c.264C>T (p.Asn88=) c.174C>T (p.Asn58=) c.261C>T (p.Asn87=) c.195C>T (p.Asn65=) c.207C>T (p.Asn69=) c.168C>T (p.Asn56=) n.269C>T c.-25C>T (n.-25C>T) n.396C>T n.222C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918970G>C | CA410693997 | TXNRD2 | c.264C>G (p.Asn88Lys) c.174C>G (p.Asn58Lys) c.261C>G (p.Asn87Lys) c.195C>G (p.Asn65Lys) c.207C>G (p.Asn69Lys) c.168C>G (p.Asn56Lys) n.269C>G c.-25C>G (n.-25C>G) n.396C>G n.222C>G | |
22 | g.19918970G= | CA2396103781 | TXNRD2 | c.264C= (p.Asn88=) c.174C= (p.Asn58=) c.261C= (p.Asn87=) c.195C= (p.Asn65=) c.207C= (p.Asn69=) c.168C= (p.Asn56=) n.269C= c.-25C= (n.-25C=) n.396C= n.222C= | |
22 | g.19918970G>T | CA410693998 | TXNRD2 | c.264C>A (p.Asn88Lys) c.174C>A (p.Asn58Lys) c.261C>A (p.Asn87Lys) c.195C>A (p.Asn65Lys) c.207C>A (p.Asn69Lys) c.168C>A (p.Asn56Lys) n.269C>A c.-25C>A (n.-25C>A) n.396C>A n.222C>A | dbSNP gnomAD v4 |
22 | g.19918971T>A | CA410693999 | TXNRD2 | c.263A>T (p.Asn88Ile) c.173A>T (p.Asn58Ile) c.260A>T (p.Asn87Ile) c.194A>T (p.Asn65Ile) c.206A>T (p.Asn69Ile) c.167A>T (p.Asn56Ile) n.268A>T c.-26A>T (n.-26A>T) n.395A>T n.221A>T | |
22 | g.19918971T>C | CA410694001 | TXNRD2 | c.263A>G (p.Asn88Ser) c.173A>G (p.Asn58Ser) c.260A>G (p.Asn87Ser) c.194A>G (p.Asn65Ser) c.206A>G (p.Asn69Ser) c.167A>G (p.Asn56Ser) n.268A>G c.-26A>G (n.-26A>G) n.395A>G n.221A>G | dbSNP gnomAD v2 gnomAD v4 |
22 | g.19918971T>G | CA410694003 | TXNRD2 | c.263A>C (p.Asn88Thr) c.173A>C (p.Asn58Thr) c.260A>C (p.Asn87Thr) c.194A>C (p.Asn65Thr) c.206A>C (p.Asn69Thr) c.167A>C (p.Asn56Thr) n.268A>C c.-26A>C (n.-26A>C) n.395A>C n.221A>C | dbSNP gnomAD v3 gnomAD v4 |
22 | g.19918971T= | CA2396103782 | TXNRD2 | c.263A= (p.Asn88=) c.173A= (p.Asn58=) c.260A= (p.Asn87=) c.194A= (p.Asn65=) c.206A= (p.Asn69=) c.167A= (p.Asn56=) n.268A= c.-26A= (n.-26A=) n.395A= n.221A= | |
22 | g.19918972T>A | CA410694005 | TXNRD2 | c.262A>T (p.Asn88Tyr) c.172A>T (p.Asn58Tyr) c.259A>T (p.Asn87Tyr) c.193A>T (p.Asn65Tyr) c.205A>T (p.Asn69Tyr) c.166A>T (p.Asn56Tyr) n.267A>T c.-27A>T (n.-27A>T) n.394A>T n.220A>T | |
22 | g.19918972T>C | CA410694006 | TXNRD2 | c.262A>G (p.Asn88Asp) c.172A>G (p.Asn58Asp) c.259A>G (p.Asn87Asp) c.193A>G (p.Asn65Asp) c.205A>G (p.Asn69Asp) c.166A>G (p.Asn56Asp) n.267A>G c.-27A>G (n.-27A>G) n.394A>G n.220A>G | |
22 | g.19918972T>G | CA410694008 | TXNRD2 | c.262A>C (p.Asn88His) c.172A>C (p.Asn58His) c.259A>C (p.Asn87His) c.193A>C (p.Asn65His) c.205A>C (p.Asn69His) c.166A>C (p.Asn56His) n.267A>C c.-27A>C (n.-27A>C) n.394A>C n.220A>C | |
22 | g.19918972_19918973insCAGGCAGGTGCCGCCCAGGTACTGCTCTTC | CA2818401268 | TXNRD2 | c.261_262insGAAGAGCAGTACCTGGGCGGCACCTGCCTG (p.Val87_Asn88insGluGluGlnTyrLeuGlyGlyThrCysLeu) c.171_172insGAAGAGCAGTACCTGGGCGGCACCTGCCTG (p.Val57_Asn58insGluGluGlnTyrLeuGlyGlyThrCysLeu) c.258_259insGAAGAGCAGTACCTGGGCGGCACCTGCCTG (p.Val86_Asn87insGluGluGlnTyrLeuGlyGlyThrCysLeu) c.192_193insGAAGAGCAGTACCTGGGCGGCACCTGCCTG (p.Val64_Asn65insGluGluGlnTyrLeuGlyGlyThrCysLeu) c.204_205insGAAGAGCAGTACCTGGGCGGCACCTGCCTG (p.Val68_Asn69insGluGluGlnTyrLeuGlyGlyThrCysLeu) c.165_166insGAAGAGCAGTACCTGGGCGGCACCTGCCTG (p.Val55_Asn56insGluGluGlnTyrLeuGlyGlyThrCysLeu) n.266_267insGAAGAGCAGTACCTGGGCGGCACCTGCCTG c.-28_-27insGAAGAGCAGTACCTGGGCGGCACCTGCCTG (n.-28_-27insGAAGAGCAGTACCTGGGCGGCACCTGCCTG) n.393_394insGAAGAGCAGTACCTGGGCGGCACCTGCCTG n.219_220insGAAGAGCAGTACCTGGGCGGCACCTGCCTG | |
22 | g.19918972_19918973insCAGGCAGGTGCCGCCCAGGTACTGTTCCTC | CA2534693394 | TXNRD2 | c.261_262insGAGGAACAGTACCTGGGCGGCACCTGCCTG (p.Val87_Asn88insGluGluGlnTyrLeuGlyGlyThrCysLeu) c.171_172insGAGGAACAGTACCTGGGCGGCACCTGCCTG (p.Val57_Asn58insGluGluGlnTyrLeuGlyGlyThrCysLeu) c.258_259insGAGGAACAGTACCTGGGCGGCACCTGCCTG (p.Val86_Asn87insGluGluGlnTyrLeuGlyGlyThrCysLeu) c.192_193insGAGGAACAGTACCTGGGCGGCACCTGCCTG (p.Val64_Asn65insGluGluGlnTyrLeuGlyGlyThrCysLeu) c.204_205insGAGGAACAGTACCTGGGCGGCACCTGCCTG (p.Val68_Asn69insGluGluGlnTyrLeuGlyGlyThrCysLeu) c.165_166insGAGGAACAGTACCTGGGCGGCACCTGCCTG (p.Val55_Asn56insGluGluGlnTyrLeuGlyGlyThrCysLeu) n.266_267insGAGGAACAGTACCTGGGCGGCACCTGCCTG c.-28_-27insGAGGAACAGTACCTGGGCGGCACCTGCCTG (n.-28_-27insGAGGAACAGTACCTGGGCGGCACCTGCCTG) n.393_394insGAGGAACAGTACCTGGGCGGCACCTGCCTG n.219_220insGAGGAACAGTACCTGGGCGGCACCTGCCTG | |
22 | g.19918972_19918973insCAGGCAGGTGCCGCCCAGGTACTGCTCCTC | CA2516644447 | TXNRD2 | c.261_262insGAGGAGCAGTACCTGGGCGGCACCTGCCTG (p.Val87_Asn88insGluGluGlnTyrLeuGlyGlyThrCysLeu) c.171_172insGAGGAGCAGTACCTGGGCGGCACCTGCCTG (p.Val57_Asn58insGluGluGlnTyrLeuGlyGlyThrCysLeu) c.258_259insGAGGAGCAGTACCTGGGCGGCACCTGCCTG (p.Val86_Asn87insGluGluGlnTyrLeuGlyGlyThrCysLeu) c.192_193insGAGGAGCAGTACCTGGGCGGCACCTGCCTG (p.Val64_Asn65insGluGluGlnTyrLeuGlyGlyThrCysLeu) c.204_205insGAGGAGCAGTACCTGGGCGGCACCTGCCTG (p.Val68_Asn69insGluGluGlnTyrLeuGlyGlyThrCysLeu) c.165_166insGAGGAGCAGTACCTGGGCGGCACCTGCCTG (p.Val55_Asn56insGluGluGlnTyrLeuGlyGlyThrCysLeu) n.266_267insGAGGAGCAGTACCTGGGCGGCACCTGCCTG c.-28_-27insGAGGAGCAGTACCTGGGCGGCACCTGCCTG (n.-28_-27insGAGGAGCAGTACCTGGGCGGCACCTGCCTG) n.393_394insGAGGAGCAGTACCTGGGCGGCACCTGCCTG n.219_220insGAGGAGCAGTACCTGGGCGGCACCTGCCTG | |
22 | g.19918973G>A | CA513369103 | TXNRD2 | c.261C>T (p.Val87=) c.171C>T (p.Val57=) c.258C>T (p.Val86=) c.192C>T (p.Val64=) c.204C>T (p.Val68=) c.165C>T (p.Val55=) n.266C>T c.-28C>T (n.-28C>T) n.393C>T n.219C>T | dbSNP gnomAD v2 gnomAD v4 |
22 | g.19918973G>C | CA322105581 | TXNRD2 | c.261C>G (p.Val87=) c.171C>G (p.Val57=) c.258C>G (p.Val86=) c.192C>G (p.Val64=) c.204C>G (p.Val68=) c.165C>G (p.Val55=) n.266C>G c.-28C>G (n.-28C>G) n.393C>G n.219C>G | dbSNP gnomAD v4 |
22 | g.19918973G= | CA2396103783 | TXNRD2 | c.261C= (p.Val87=) c.171C= (p.Val57=) c.258C= (p.Val86=) c.192C= (p.Val64=) c.204C= (p.Val68=) c.165C= (p.Val55=) n.266C= c.-28C= (n.-28C=) n.393C= n.219C= | |
22 | g.19918973G>T | CA513369102 | TXNRD2 | c.261C>A (p.Val87=) c.171C>A (p.Val57=) c.258C>A (p.Val86=) c.192C>A (p.Val64=) c.204C>A (p.Val68=) c.165C>A (p.Val55=) n.266C>A c.-28C>A (n.-28C>A) n.393C>A n.219C>A | |
22 | g.19918974A>C | CA410694010 | TXNRD2 | c.260T>G (p.Val87Gly) c.170T>G (p.Val57Gly) c.257T>G (p.Val86Gly) c.191T>G (p.Val64Gly) c.203T>G (p.Val68Gly) c.164T>G (p.Val55Gly) n.265T>G c.-29T>G (n.-29T>G) n.392T>G n.218T>G | |
22 | g.19918974A>G | CA410694011 | TXNRD2 | c.260T>C (p.Val87Ala) c.170T>C (p.Val57Ala) c.257T>C (p.Val86Ala) c.191T>C (p.Val64Ala) c.203T>C (p.Val68Ala) c.164T>C (p.Val55Ala) n.265T>C c.-29T>C (n.-29T>C) n.392T>C n.218T>C | |
22 | g.19918974A>T | CA410694012 | TXNRD2 | c.260T>A (p.Val87Asp) c.170T>A (p.Val57Asp) c.257T>A (p.Val86Asp) c.191T>A (p.Val64Asp) c.203T>A (p.Val68Asp) c.164T>A (p.Val55Asp) n.265T>A c.-29T>A (n.-29T>A) n.392T>A n.218T>A | |
22 | g.19918974_19918975insATGGATGGCCGCGATTCTGGTCACCCCCAACCTCCGCCTCCCGGGTTCAAGCTTTTCTCCTGCCTCAGCCTCCCCGAGTACCTGGAGTATAGGGCAGGCGCAACCATGCCCGGCTAATTTTGTATTTGAGTAGAGATGGGATTTTCTCCAGGTTGGGCAGGCTGGTCTTGAACTCCCAACCTCAGGTGATCCGCGCGCCGCCGCCCTGGGCCTCCCAAAGTGCTGGGATTACACTGTGAGCCACAGTGCCACGGCCTATTTTTATTTTTAATTTAAAAAAAATTGTTAGGCTGAGTGTGGTGGCTCACACCGTAATGCCCAAGCACTTTTGCAGAGCCGGAGGCGGGCATAACCTGAGTCAGGAGTTCAAACAGTCTGTGGCCCAACATGGTGAAACCCTGTTCCTCTACTAAAAATACAAAAACTTAGCTCCGGTGTGGTGGCACACCCTGTAATCCCAGCTACTAAGGAAGCTGAGCCAAGAATCACGTTGAACCCGGGTGGCAGTTGGCAAGTGAGCCAAGATTGCACCACTGCACTCCACCTGGCTGACAGAGCCGGACCTCTTTCTCAATTTAAAAAAAAAACTGTGAGAATAATTTTCTCACTCTGTTGCCGCTGGGAGTGCA | CA1139638243 | TXNRD2 | c.260_261insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT (p.Asn88HisfsTer19) c.170_171insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT (p.Asn58HisfsTer19) c.257_258insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT (p.Asn87HisfsTer19) c.191_192insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT (p.Asn65HisfsTer19) c.203_204insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT (p.Asn69HisfsTer19) c.164_165insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT (p.Asn56HisfsTer19) n.265_266insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT c.-29_-28insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT (n.-29_-28insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT) n.392_393insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT n.218_219insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT | |
22 | g.19918975C>A | CA410694013 | TXNRD2 | c.259G>T (p.Val87Phe) c.169G>T (p.Val57Phe) c.256G>T (p.Val86Phe) c.190G>T (p.Val64Phe) c.202G>T (p.Val68Phe) c.163G>T (p.Val55Phe) n.264G>T c.-30G>T (n.-30G>T) n.391G>T n.217G>T | |
22 | g.19918975C= | CA2396103784 | TXNRD2 | c.259G= (p.Val87=) c.169G= (p.Val57=) c.256G= (p.Val86=) c.190G= (p.Val64=) c.202G= (p.Val68=) c.163G= (p.Val55=) n.264G= c.-30G= (n.-30G=) n.391G= n.217G= | |
22 | g.19918975C>G | CA322105582 | TXNRD2 | c.259G>C (p.Val87Leu) c.169G>C (p.Val57Leu) c.256G>C (p.Val86Leu) c.190G>C (p.Val64Leu) c.202G>C (p.Val68Leu) c.163G>C (p.Val55Leu) n.264G>C c.-30G>C (n.-30G>C) n.391G>C n.217G>C | dbSNP gnomAD v4 |
22 | g.19918975C>T | CA10104274 | TXNRD2 | c.259G>A (p.Val87Ile) c.169G>A (p.Val57Ile) c.256G>A (p.Val86Ile) c.190G>A (p.Val64Ile) c.202G>A (p.Val68Ile) c.163G>A (p.Val55Ile) n.264G>A c.-30G>A (n.-30G>A) n.391G>A n.217G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918976G>A | CA10104275 | TXNRD2 | c.258C>T (p.Cys86=) c.168C>T (p.Cys56=) c.255C>T (p.Cys85=) c.189C>T (p.Cys63=) c.201C>T (p.Cys67=) c.162C>T (p.Cys54=) n.263C>T c.-31C>T (n.-31C>T) n.390C>T n.216C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918976G>C | CA410694017 | TXNRD2 | c.258C>G (p.Cys86Trp) c.168C>G (p.Cys56Trp) c.255C>G (p.Cys85Trp) c.189C>G (p.Cys63Trp) c.201C>G (p.Cys67Trp) c.162C>G (p.Cys54Trp) n.263C>G c.-31C>G (n.-31C>G) n.390C>G n.216C>G | |
22 | g.19918976G= | CA2396103785 | TXNRD2 | c.258C= (p.Cys86=) c.168C= (p.Cys56=) c.255C= (p.Cys85=) c.189C= (p.Cys63=) c.201C= (p.Cys67=) c.162C= (p.Cys54=) n.263C= c.-31C= (n.-31C=) n.390C= n.216C= | |
22 | g.19918976G>T | CA410694019 | TXNRD2 | c.258C>A (p.Cys86Ter) c.168C>A (p.Cys56Ter) c.255C>A (p.Cys85Ter) c.189C>A (p.Cys63Ter) c.201C>A (p.Cys67Ter) c.162C>A (p.Cys54Ter) n.263C>A c.-31C>A (n.-31C>A) n.390C>A n.216C>A | gnomAD v4 |
22 | g.19918976_19918977insAGGGCGACCTTCTTGCCCGCGTGTCCGAGGCGCTCGGCGGC | CA2509236627 | TXNRD2 | c.257_258insGCCGCCGAGCGCCTCGGACACGCGGGCAAGAAGGTCGCCCT (p.Cys86TrpfsTer25) c.167_168insGCCGCCGAGCGCCTCGGACACGCGGGCAAGAAGGTCGCCCT (p.Cys56TrpfsTer25) c.254_255insGCCGCCGAGCGCCTCGGACACGCGGGCAAGAAGGTCGCCCT (p.Cys85TrpfsTer25) c.188_189insGCCGCCGAGCGCCTCGGACACGCGGGCAAGAAGGTCGCCCT (p.Cys63TrpfsTer25) c.200_201insGCCGCCGAGCGCCTCGGACACGCGGGCAAGAAGGTCGCCCT (p.Cys67TrpfsTer25) c.161_162insGCCGCCGAGCGCCTCGGACACGCGGGCAAGAAGGTCGCCCT (p.Cys54TrpfsTer25) n.262_263insGCCGCCGAGCGCCTCGGACACGCGGGCAAGAAGGTCGCCCT c.-32_-31insGCCGCCGAGCGCCTCGGACACGCGGGCAAGAAGGTCGCCCT (n.-32_-31insGCCGCCGAGCGCCTCGGACACGCGGGCAAGAAGGTCGCCCT) n.389_390insGCCGCCGAGCGCCTCGGACACGCGGGCAAGAAGGTCGCCCT n.215_216insGCCGCCGAGCGCCTCGGACACGCGGGCAAGAAGGTCGCCCT | |
22 | g.19918976_19918977insAGGGCTACCTTCTTACCCGCGTGGCCGAGGCGTTCGGCGGC | CA2512198593 | TXNRD2 | c.257_258insGCCGCCGAACGCCTCGGCCACGCGGGTAAGAAGGTAGCCCT (p.Cys86TrpfsTer13) c.167_168insGCCGCCGAACGCCTCGGCCACGCGGGTAAGAAGGTAGCCCT (p.Cys56TrpfsTer13) c.254_255insGCCGCCGAACGCCTCGGCCACGCGGGTAAGAAGGTAGCCCT (p.Cys85TrpfsTer13) c.188_189insGCCGCCGAACGCCTCGGCCACGCGGGTAAGAAGGTAGCCCT (p.Cys63TrpfsTer13) c.200_201insGCCGCCGAACGCCTCGGCCACGCGGGTAAGAAGGTAGCCCT (p.Cys67TrpfsTer13) c.161_162insGCCGCCGAACGCCTCGGCCACGCGGGTAAGAAGGTAGCCCT (p.Cys54TrpfsTer13) n.262_263insGCCGCCGAACGCCTCGGCCACGCGGGTAAGAAGGTAGCCCT c.-32_-31insGCCGCCGAACGCCTCGGCCACGCGGGTAAGAAGGTAGCCCT (n.-32_-31insGCCGCCGAACGCCTCGGCCACGCGGGTAAGAAGGTAGCCCT) n.389_390insGCCGCCGAACGCCTCGGCCACGCGGGTAAGAAGGTAGCCCT n.215_216insGCCGCCGAACGCCTCGGCCACGCGGGTAAGAAGGTAGCCCT | |
22 | g.19918976_19918977insAGGGCGACCTTCTTGCCCGCATGTCCGAGGCGCTCGGCGGC | CA2546682984 | TXNRD2 | c.257_258insGCCGCCGAGCGCCTCGGACATGCGGGCAAGAAGGTCGCCCT (p.Cys86TrpfsTer25) c.167_168insGCCGCCGAGCGCCTCGGACATGCGGGCAAGAAGGTCGCCCT (p.Cys56TrpfsTer25) c.254_255insGCCGCCGAGCGCCTCGGACATGCGGGCAAGAAGGTCGCCCT (p.Cys85TrpfsTer25) c.188_189insGCCGCCGAGCGCCTCGGACATGCGGGCAAGAAGGTCGCCCT (p.Cys63TrpfsTer25) c.200_201insGCCGCCGAGCGCCTCGGACATGCGGGCAAGAAGGTCGCCCT (p.Cys67TrpfsTer25) c.161_162insGCCGCCGAGCGCCTCGGACATGCGGGCAAGAAGGTCGCCCT (p.Cys54TrpfsTer25) n.262_263insGCCGCCGAGCGCCTCGGACATGCGGGCAAGAAGGTCGCCCT c.-32_-31insGCCGCCGAGCGCCTCGGACATGCGGGCAAGAAGGTCGCCCT (n.-32_-31insGCCGCCGAGCGCCTCGGACATGCGGGCAAGAAGGTCGCCCT) n.389_390insGCCGCCGAGCGCCTCGGACATGCGGGCAAGAAGGTCGCCCT n.215_216insGCCGCCGAGCGCCTCGGACATGCGGGCAAGAAGGTCGCCCT | |
22 | g.19918977C>A | CA410694021 | TXNRD2 | c.257G>T (p.Cys86Phe) c.167G>T (p.Cys56Phe) c.254G>T (p.Cys85Phe) c.188G>T (p.Cys63Phe) c.200G>T (p.Cys67Phe) c.161G>T (p.Cys54Phe) n.262G>T c.-32G>T (n.-32G>T) n.389G>T n.215G>T | |
22 | g.19918977C= | CA2396103786 | TXNRD2 | c.257G= (p.Cys86=) c.167G= (p.Cys56=) c.254G= (p.Cys85=) c.188G= (p.Cys63=) c.200G= (p.Cys67=) c.161G= (p.Cys54=) n.262G= c.-32G= (n.-32G=) n.389G= n.215G= | |
22 | g.19918977C>G | CA410694022 | TXNRD2 | c.257G>C (p.Cys86Ser) c.167G>C (p.Cys56Ser) c.254G>C (p.Cys85Ser) c.188G>C (p.Cys63Ser) c.200G>C (p.Cys67Ser) c.161G>C (p.Cys54Ser) n.262G>C c.-32G>C (n.-32G>C) n.389G>C n.215G>C | |
22 | g.19918977C>T | CA410694023 | TXNRD2 | c.257G>A (p.Cys86Tyr) c.167G>A (p.Cys56Tyr) c.254G>A (p.Cys85Tyr) c.188G>A (p.Cys63Tyr) c.200G>A (p.Cys67Tyr) c.161G>A (p.Cys54Tyr) n.262G>A c.-32G>A (n.-32G>A) n.389G>A n.215G>A | dbSNP gnomAD v4 |
22 | g.19918978A>C | CA410694026 | TXNRD2 | c.256T>G (p.Cys86Gly) c.166T>G (p.Cys56Gly) c.253T>G (p.Cys85Gly) c.187T>G (p.Cys63Gly) c.199T>G (p.Cys67Gly) c.160T>G (p.Cys54Gly) n.261T>G c.-33T>G (n.-33T>G) n.388T>G n.214T>G | |
22 | g.19918978A>G | CA410694028 | TXNRD2 | c.256T>C (p.Cys86Arg) c.166T>C (p.Cys56Arg) c.253T>C (p.Cys85Arg) c.187T>C (p.Cys63Arg) c.199T>C (p.Cys67Arg) c.160T>C (p.Cys54Arg) n.261T>C c.-33T>C (n.-33T>C) n.388T>C n.214T>C | gnomAD v4 COSMIC COSMIC |
22 | g.19918978A>T | CA410694029 | TXNRD2 | c.256T>A (p.Cys86Ser) c.166T>A (p.Cys56Ser) c.253T>A (p.Cys85Ser) c.187T>A (p.Cys63Ser) c.199T>A (p.Cys67Ser) c.160T>A (p.Cys54Ser) n.261T>A c.-33T>A (n.-33T>A) n.388T>A n.214T>A | |
22 | g.19918979G>A | CA10104276 | TXNRD2 | c.255C>T (p.Thr85=) c.165C>T (p.Thr55=) c.252C>T (p.Thr84=) c.186C>T (p.Thr62=) c.198C>T (p.Thr66=) c.159C>T (p.Thr53=) n.260C>T c.-34C>T (n.-34C>T) n.387C>T n.213C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.19918979G>C | CA513369105 | TXNRD2 | c.255C>G (p.Thr85=) c.165C>G (p.Thr55=) c.252C>G (p.Thr84=) c.186C>G (p.Thr62=) c.198C>G (p.Thr66=) c.159C>G (p.Thr53=) n.260C>G c.-34C>G (n.-34C>G) n.387C>G n.213C>G | dbSNP |
22 | g.19918979G= | CA2396103787 | TXNRD2 | c.255C= (p.Thr85=) c.165C= (p.Thr55=) c.252C= (p.Thr84=) c.186C= (p.Thr62=) c.198C= (p.Thr66=) c.159C= (p.Thr53=) n.260C= c.-34C= (n.-34C=) n.387C= n.213C= | |
22 | g.19918979G>T | CA513369104 | TXNRD2 | c.255C>A (p.Thr85=) c.165C>A (p.Thr55=) c.252C>A (p.Thr84=) c.186C>A (p.Thr62=) c.198C>A (p.Thr66=) c.159C>A (p.Thr53=) n.260C>A c.-34C>A (n.-34C>A) n.387C>A n.213C>A | gnomAD v4 |
22 | g.19918980G>A | CA322105583 | TXNRD2 | c.254C>T (p.Thr85Ile) c.164C>T (p.Thr55Ile) c.251C>T (p.Thr84Ile) c.185C>T (p.Thr62Ile) c.197C>T (p.Thr66Ile) c.158C>T (p.Thr53Ile) n.259C>T c.-35C>T (n.-35C>T) n.386C>T n.212C>T | dbSNP gnomAD v4 |
22 | g.19918980G>C | CA410694032 | TXNRD2 | c.254C>G (p.Thr85Ser) c.164C>G (p.Thr55Ser) c.251C>G (p.Thr84Ser) c.185C>G (p.Thr62Ser) c.197C>G (p.Thr66Ser) c.158C>G (p.Thr53Ser) n.259C>G c.-35C>G (n.-35C>G) n.386C>G n.212C>G | |
22 | g.19918980G= | CA2396103788 | TXNRD2 | c.254C= (p.Thr85=) c.164C= (p.Thr55=) c.251C= (p.Thr84=) c.185C= (p.Thr62=) c.197C= (p.Thr66=) c.158C= (p.Thr53=) n.259C= c.-35C= (n.-35C=) n.386C= n.212C= | |
22 | g.19918980G>T | CA410694033 | TXNRD2 | c.254C>A (p.Thr85Asn) c.164C>A (p.Thr55Asn) c.251C>A (p.Thr84Asn) c.185C>A (p.Thr62Asn) c.197C>A (p.Thr66Asn) c.158C>A (p.Thr53Asn) n.259C>A c.-35C>A (n.-35C>A) n.386C>A n.212C>A | |
22 | g.19918981T>A | CA410694035 | TXNRD2 | c.253A>T (p.Thr85Ser) c.163A>T (p.Thr55Ser) c.250A>T (p.Thr84Ser) c.184A>T (p.Thr62Ser) c.196A>T (p.Thr66Ser) c.157A>T (p.Thr53Ser) n.258A>T c.-36A>T (n.-36A>T) n.385A>T n.211A>T | |
22 | g.19918981T>C | CA410694038 | TXNRD2 | c.253A>G (p.Thr85Ala) c.163A>G (p.Thr55Ala) c.250A>G (p.Thr84Ala) c.184A>G (p.Thr62Ala) c.196A>G (p.Thr66Ala) c.157A>G (p.Thr53Ala) n.258A>G c.-36A>G (n.-36A>G) n.385A>G n.211A>G | gnomAD v4 COSMIC COSMIC |
22 | g.19918981T>G | CA410694036 | TXNRD2 | c.253A>C (p.Thr85Pro) c.163A>C (p.Thr55Pro) c.250A>C (p.Thr84Pro) c.184A>C (p.Thr62Pro) c.196A>C (p.Thr66Pro) c.157A>C (p.Thr53Pro) n.258A>C c.-36A>C (n.-36A>C) n.385A>C n.211A>C | |
22 | g.19918981_19918982insA | CA2549867287 | TXNRD2 | c.252_253insT (p.Thr85TyrfsTer?) c.162_163insT (p.Thr55TyrfsTer?) c.249_250insT (p.Thr84TyrfsTer?) c.183_184insT (p.Thr62TyrfsTer?) c.195_196insT (p.Thr66TyrfsTer?) c.156_157insT (p.Thr53TyrfsTer?) n.257_258insT c.-37_-36insT (n.-37_-36insT) n.384_385insT n.210_211insT | |
22 | g.19918982G>A | CA513369108 | TXNRD2 | c.252C>T (p.Gly84=) c.162C>T (p.Gly54=) c.249C>T (p.Gly83=) c.183C>T (p.Gly61=) c.195C>T (p.Gly65=) c.156C>T (p.Gly52=) n.257C>T c.-37C>T (n.-37C>T) n.384C>T n.210C>T | dbSNP gnomAD v2 gnomAD v4 |
22 | g.19918982G>C | CA513369107 | TXNRD2 | c.252C>G (p.Gly84=) c.162C>G (p.Gly54=) c.249C>G (p.Gly83=) c.183C>G (p.Gly61=) c.195C>G (p.Gly65=) c.156C>G (p.Gly52=) n.257C>G c.-37C>G (n.-37C>G) n.384C>G n.210C>G | |
22 | g.19918982G= | CA2396103789 | TXNRD2 | c.252C= (p.Gly84=) c.162C= (p.Gly54=) c.249C= (p.Gly83=) c.183C= (p.Gly61=) c.195C= (p.Gly65=) c.156C= (p.Gly52=) n.257C= c.-37C= (n.-37C=) n.384C= n.210C= | |
22 | g.19918982G>T | CA513369106 | TXNRD2 | c.252C>A (p.Gly84=) c.162C>A (p.Gly54=) c.249C>A (p.Gly83=) c.183C>A (p.Gly61=) c.195C>A (p.Gly65=) c.156C>A (p.Gly52=) n.257C>A c.-37C>A (n.-37C>A) n.384C>A n.210C>A | |
22 | g.19918983C>A | CA410694039 | TXNRD2 | c.251G>T (p.Gly84Val) c.161G>T (p.Gly54Val) c.248G>T (p.Gly83Val) c.182G>T (p.Gly61Val) c.194G>T (p.Gly65Val) c.155G>T (p.Gly52Val) n.256G>T c.-38G>T (n.-38G>T) n.383G>T n.209G>T | |
22 | g.19918983C>G | CA410694041 | TXNRD2 | c.251G>C (p.Gly84Ala) c.161G>C (p.Gly54Ala) c.248G>C (p.Gly83Ala) c.182G>C (p.Gly61Ala) c.194G>C (p.Gly65Ala) c.155G>C (p.Gly52Ala) n.256G>C c.-38G>C (n.-38G>C) n.383G>C n.209G>C | |
22 | g.19918983C>T | CA410694043 | TXNRD2 | c.251G>A (p.Gly84Asp) c.161G>A (p.Gly54Asp) c.248G>A (p.Gly83Asp) c.182G>A (p.Gly61Asp) c.194G>A (p.Gly65Asp) c.155G>A (p.Gly52Asp) n.256G>A c.-38G>A (n.-38G>A) n.383G>A n.209G>A | gnomAD v4 |
22 | g.19918984C>A | CA410694045 | TXNRD2 | c.250G>T (p.Gly84Cys) c.160G>T (p.Gly54Cys) c.247G>T (p.Gly83Cys) c.181G>T (p.Gly61Cys) c.193G>T (p.Gly65Cys) c.154G>T (p.Gly52Cys) n.255G>T c.-39G>T (n.-39G>T) n.382G>T n.208G>T | |
22 | g.19918984C= | CA2396103790 | TXNRD2 | c.250G= (p.Gly84=) c.160G= (p.Gly54=) c.247G= (p.Gly83=) c.181G= (p.Gly61=) c.193G= (p.Gly65=) c.154G= (p.Gly52=) n.255G= c.-39G= (n.-39G=) n.382G= n.208G= | |
22 | g.19918984C>G | CA410694046 | TXNRD2 | c.250G>C (p.Gly84Arg) c.160G>C (p.Gly54Arg) c.247G>C (p.Gly83Arg) c.181G>C (p.Gly61Arg) c.193G>C (p.Gly65Arg) c.154G>C (p.Gly52Arg) n.255G>C c.-39G>C (n.-39G>C) n.382G>C n.208G>C | |
22 | g.19918984C>T | CA10104277 | TXNRD2 | c.250G>A (p.Gly84Ser) c.160G>A (p.Gly54Ser) c.247G>A (p.Gly83Ser) c.181G>A (p.Gly61Ser) c.193G>A (p.Gly65Ser) c.154G>A (p.Gly52Ser) n.255G>A c.-39G>A (n.-39G>A) n.382G>A n.208G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.19918985G>A | CA10104278 | TXNRD2 | c.249C>T (p.Gly83=) c.159C>T (p.Gly53=) c.246C>T (p.Gly82=) c.180C>T (p.Gly60=) c.192C>T (p.Gly64=) c.153C>T (p.Gly51=) n.254C>T c.-40C>T (n.-40C>T) n.381C>T n.207C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.19918985G>C | CA513369110 | TXNRD2 | c.249C>G (p.Gly83=) c.159C>G (p.Gly53=) c.246C>G (p.Gly82=) c.180C>G (p.Gly60=) c.192C>G (p.Gly64=) c.153C>G (p.Gly51=) n.254C>G c.-40C>G (n.-40C>G) n.381C>G n.207C>G | |
22 | g.19918985G= | CA2396103791 | TXNRD2 | c.249C= (p.Gly83=) c.159C= (p.Gly53=) c.246C= (p.Gly82=) c.180C= (p.Gly60=) c.192C= (p.Gly64=) c.153C= (p.Gly51=) n.254C= c.-40C= (n.-40C=) n.381C= n.207C= | |
22 | g.19918985G>T | CA513369109 | TXNRD2 | c.249C>A (p.Gly83=) c.159C>A (p.Gly53=) c.246C>A (p.Gly82=) c.180C>A (p.Gly60=) c.192C>A (p.Gly64=) c.153C>A (p.Gly51=) n.254C>A c.-40C>A (n.-40C>A) n.381C>A n.207C>A | dbSNP gnomAD v2 gnomAD v4 |
22 | g.19918986C>A | CA410694050 | TXNRD2 | c.248G>T (p.Gly83Val) c.158G>T (p.Gly53Val) c.245G>T (p.Gly82Val) c.179G>T (p.Gly60Val) c.191G>T (p.Gly64Val) c.152G>T (p.Gly51Val) n.253G>T c.-41G>T (n.-41G>T) n.380G>T n.206G>T | gnomAD v4 |
22 | g.19918986C>G | CA410694051 | TXNRD2 | c.248G>C (p.Gly83Ala) c.158G>C (p.Gly53Ala) c.245G>C (p.Gly82Ala) c.179G>C (p.Gly60Ala) c.191G>C (p.Gly64Ala) c.152G>C (p.Gly51Ala) n.253G>C c.-41G>C (n.-41G>C) n.380G>C n.206G>C | |
22 | g.19918986C>T | CA410694053 | TXNRD2 | c.248G>A (p.Gly83Asp) c.158G>A (p.Gly53Asp) c.245G>A (p.Gly82Asp) c.179G>A (p.Gly60Asp) c.191G>A (p.Gly64Asp) c.152G>A (p.Gly51Asp) n.253G>A c.-41G>A (n.-41G>A) n.380G>A n.206G>A | |
22 | g.19918987C>A | CA410694055 | TXNRD2 | c.247G>T (p.Gly83Cys) c.157G>T (p.Gly53Cys) c.244G>T (p.Gly82Cys) c.178G>T (p.Gly60Cys) c.190G>T (p.Gly64Cys) c.151G>T (p.Gly51Cys) n.252G>T c.-42G>T (n.-42G>T) n.379G>T n.205G>T | |
22 | g.19918987C= | CA2396103792 | TXNRD2 | c.247G= (p.Gly83=) c.157G= (p.Gly53=) c.244G= (p.Gly82=) c.178G= (p.Gly60=) c.190G= (p.Gly64=) c.151G= (p.Gly51=) n.252G= c.-42G= (n.-42G=) n.379G= n.205G= | |
22 | g.19918987C>G | CA410694057 | TXNRD2 | c.247G>C (p.Gly83Arg) c.157G>C (p.Gly53Arg) c.244G>C (p.Gly82Arg) c.178G>C (p.Gly60Arg) c.190G>C (p.Gly64Arg) c.151G>C (p.Gly51Arg) n.252G>C c.-42G>C (n.-42G>C) n.379G>C n.205G>C | |
22 | g.19918987C>T | CA10104279 | TXNRD2 | c.247G>A (p.Gly83Ser) c.157G>A (p.Gly53Ser) c.244G>A (p.Gly82Ser) c.178G>A (p.Gly60Ser) c.190G>A (p.Gly64Ser) c.151G>A (p.Gly51Ser) n.252G>A c.-42G>A (n.-42G>A) n.379G>A n.205G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.19918987_19918988insCAGGTACTGCTCTTC | CA2567780688 | TXNRD2 | c.247_248insAAGAGCAGTACCTGG (p.Leu82_Gly83insGluGluGlnTyrLeu) c.157_158insAAGAGCAGTACCTGG (p.Leu52_Gly53insGluGluGlnTyrLeu) c.244_245insAAGAGCAGTACCTGG (p.Leu81_Gly82insGluGluGlnTyrLeu) c.178_179insAAGAGCAGTACCTGG (p.Leu59_Gly60insGluGluGlnTyrLeu) c.190_191insAAGAGCAGTACCTGG (p.Leu63_Gly64insGluGluGlnTyrLeu) c.151_152insAAGAGCAGTACCTGG (p.Leu50_Gly51insGluGluGlnTyrLeu) n.252_253insAAGAGCAGTACCTGG c.-42_-41insAAGAGCAGTACCTGG (n.-42_-41insAAGAGCAGTACCTGG) n.379_380insAAGAGCAGTACCTGG n.205_206insAAGAGCAGTACCTGG | |
22 | g.19918987_19918988insCAGGTACTGCTCCTCAAC | CA2562820767 | TXNRD2 | c.247_248insTTGAGGAGCAGTACCTGG (p.Leu82_Gly83insValGluGluGlnTyrLeu) c.157_158insTTGAGGAGCAGTACCTGG (p.Leu52_Gly53insValGluGluGlnTyrLeu) c.244_245insTTGAGGAGCAGTACCTGG (p.Leu81_Gly82insValGluGluGlnTyrLeu) c.178_179insTTGAGGAGCAGTACCTGG (p.Leu59_Gly60insValGluGluGlnTyrLeu) c.190_191insTTGAGGAGCAGTACCTGG (p.Leu63_Gly64insValGluGluGlnTyrLeu) c.151_152insTTGAGGAGCAGTACCTGG (p.Leu50_Gly51insValGluGluGlnTyrLeu) n.252_253insTTGAGGAGCAGTACCTGG c.-42_-41insTTGAGGAGCAGTACCTGG (n.-42_-41insTTGAGGAGCAGTACCTGG) n.379_380insTTGAGGAGCAGTACCTGG n.205_206insTTGAGGAGCAGTACCTGG | |
22 | g.19918987_19918988insCAGGTACTGCTCCTCGAC | CA2655329446 | TXNRD2 | c.247_248insTCGAGGAGCAGTACCTGG (p.Leu82_Gly83insValGluGluGlnTyrLeu) c.157_158insTCGAGGAGCAGTACCTGG (p.Leu52_Gly53insValGluGluGlnTyrLeu) c.244_245insTCGAGGAGCAGTACCTGG (p.Leu81_Gly82insValGluGluGlnTyrLeu) c.178_179insTCGAGGAGCAGTACCTGG (p.Leu59_Gly60insValGluGluGlnTyrLeu) c.190_191insTCGAGGAGCAGTACCTGG (p.Leu63_Gly64insValGluGluGlnTyrLeu) c.151_152insTCGAGGAGCAGTACCTGG (p.Leu50_Gly51insValGluGluGlnTyrLeu) n.252_253insTCGAGGAGCAGTACCTGG c.-42_-41insTCGAGGAGCAGTACCTGG (n.-42_-41insTCGAGGAGCAGTACCTGG) n.379_380insTCGAGGAGCAGTACCTGG n.205_206insTCGAGGAGCAGTACCTGG | gnomAD v4 |
22 | g.19918987_19918988insCAGGTACTGCTCTTCGAC | CA2551536814 | TXNRD2 | c.247_248insTCGAAGAGCAGTACCTGG (p.Leu82_Gly83insValGluGluGlnTyrLeu) c.157_158insTCGAAGAGCAGTACCTGG (p.Leu52_Gly53insValGluGluGlnTyrLeu) c.244_245insTCGAAGAGCAGTACCTGG (p.Leu81_Gly82insValGluGluGlnTyrLeu) c.178_179insTCGAAGAGCAGTACCTGG (p.Leu59_Gly60insValGluGluGlnTyrLeu) c.190_191insTCGAAGAGCAGTACCTGG (p.Leu63_Gly64insValGluGluGlnTyrLeu) c.151_152insTCGAAGAGCAGTACCTGG (p.Leu50_Gly51insValGluGluGlnTyrLeu) n.252_253insTCGAAGAGCAGTACCTGG c.-42_-41insTCGAAGAGCAGTACCTGG (n.-42_-41insTCGAAGAGCAGTACCTGG) n.379_380insTCGAAGAGCAGTACCTGG n.205_206insTCGAAGAGCAGTACCTGG | |
22 | g.19918987_19918988insCA | CA1024155175 | TXNRD2 | c.246_247insTG (p.Gly83TrpfsTer15) c.156_157insTG (p.Gly53TrpfsTer15) c.243_244insTG (p.Gly82TrpfsTer15) c.177_178insTG (p.Gly60TrpfsTer15) c.189_190insTG (p.Gly64TrpfsTer15) c.150_151insTG (p.Gly51TrpfsTer15) n.251_252insTG c.-43_-42insTG (n.-43_-42insTG) n.378_379insTG n.204_205insTG | |
22 | g.19918988G>A | CA10104280 | TXNRD2 | c.246C>T (p.Leu82=) c.156C>T (p.Leu52=) c.243C>T (p.Leu81=) c.177C>T (p.Leu59=) c.189C>T (p.Leu63=) c.150C>T (p.Leu50=) n.251C>T c.-43C>T (n.-43C>T) n.378C>T n.204C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918988G>C | CA513369112 | TXNRD2 | c.246C>G (p.Leu82=) c.156C>G (p.Leu52=) c.243C>G (p.Leu81=) c.177C>G (p.Leu59=) c.189C>G (p.Leu63=) c.150C>G (p.Leu50=) n.251C>G c.-43C>G (n.-43C>G) n.378C>G n.204C>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.19918988G= | CA2396103793 | TXNRD2 | c.246C= (p.Leu82=) c.156C= (p.Leu52=) c.243C= (p.Leu81=) c.177C= (p.Leu59=) c.189C= (p.Leu63=) c.150C= (p.Leu50=) n.251C= c.-43C= (n.-43C=) n.378C= n.204C= | |
22 | g.19918988G>T | CA513369111 | TXNRD2 | c.246C>A (p.Leu82=) c.156C>A (p.Leu52=) c.243C>A (p.Leu81=) c.177C>A (p.Leu59=) c.189C>A (p.Leu63=) c.150C>A (p.Leu50=) n.251C>A c.-43C>A (n.-43C>A) n.378C>A n.204C>A | gnomAD v4 |
22 | g.19918988_19918989insCGCGTTCTTGCCGGCCGGGTTCTTCCATTTCTCGATGCAGGCAACCTTC | CA2818401269 | TXNRD2 | c.245_246insGAAGGTTGCCTGCATCGAGAAATGGAAGAACCCGGCCGGCAAGAACGCG (p.Gly83LysfsTer?) c.155_156insGAAGGTTGCCTGCATCGAGAAATGGAAGAACCCGGCCGGCAAGAACGCG (p.Gly53LysfsTer?) c.242_243insGAAGGTTGCCTGCATCGAGAAATGGAAGAACCCGGCCGGCAAGAACGCG (p.Gly82LysfsTer?) c.176_177insGAAGGTTGCCTGCATCGAGAAATGGAAGAACCCGGCCGGCAAGAACGCG (p.Gly60LysfsTer?) c.188_189insGAAGGTTGCCTGCATCGAGAAATGGAAGAACCCGGCCGGCAAGAACGCG (p.Gly64LysfsTer?) c.149_150insGAAGGTTGCCTGCATCGAGAAATGGAAGAACCCGGCCGGCAAGAACGCG (p.Gly51LysfsTer?) n.250_251insGAAGGTTGCCTGCATCGAGAAATGGAAGAACCCGGCCGGCAAGAACGCG c.-44_-43insGAAGGTTGCCTGCATCGAGAAATGGAAGAACCCGGCCGGCAAGAACGCG (n.-44_-43insGAAGGTTGCCTGCATCGAGAAATGGAAGAACCCGGCCGGCAAGAACGCG) n.377_378insGAAGGTTGCCTGCATCGAGAAATGGAAGAACCCGGCCGGCAAGAACGCG n.203_204insGAAGGTTGCCTGCATCGAGAAATGGAAGAACCCGGCCGGCAAGAACGCG | |
22 | g.19918989A>C | CA410694059 | TXNRD2 | c.245T>G (p.Leu82Arg) c.155T>G (p.Leu52Arg) c.242T>G (p.Leu81Arg) c.176T>G (p.Leu59Arg) c.188T>G (p.Leu63Arg) c.149T>G (p.Leu50Arg) n.250T>G c.-44T>G (n.-44T>G) n.377T>G n.203T>G | |
22 | g.19918989A>G | CA410694061 | TXNRD2 | c.245T>C (p.Leu82Pro) c.155T>C (p.Leu52Pro) c.242T>C (p.Leu81Pro) c.176T>C (p.Leu59Pro) c.188T>C (p.Leu63Pro) c.149T>C (p.Leu50Pro) n.250T>C c.-44T>C (n.-44T>C) n.377T>C n.203T>C | |
22 | g.19918989A>T | CA410694062 | TXNRD2 | c.245T>A (p.Leu82His) c.155T>A (p.Leu52His) c.242T>A (p.Leu81His) c.176T>A (p.Leu59His) c.188T>A (p.Leu63His) c.149T>A (p.Leu50His) n.250T>A c.-44T>A (n.-44T>A) n.377T>A n.203T>A | |
22 | g.19918989_19918990delinsAG | CA2396103794 | TXNRD2 | c.244_245delinsCT (p.Leu82=) c.154_155delinsCT (p.Leu52=) c.241_242delinsCT (p.Leu81=) c.175_176delinsCT (p.Leu59=) c.187_188delinsCT (p.Leu63=) c.148_149delinsCT (p.Leu50=) n.249_250delinsCT c.-45_-44delinsCT (n.-45_-44delinsCT) n.376_377delinsCT n.202_203delinsCT | |
22 | g.19918989_19918990insTAGCGGCTTTCAGCAACCGCAACGCGGGCTCCGAAACCTGCGCTAAAGCGCGCGGCGCGCACACCGCCGGAACCGGCACCGATGACGAAAAGGTCGAAGTCGTAGGTCATTAATTTCTCCTT | CA1024155185 | TXNRD2 | c.244_245insAAGGAGAAATTAATGACCTACGACTTCGACCTTTTCGTCATCGGTGCCGGTTCCGGCGGTGTGCGCGCCGCGCGCTTTAGCGCAGGTTTCGGAGCCCGCGTTGCGGTTGCTGAAAGCCGCTA (p.Leu82GlnfsTer27) c.154_155insAAGGAGAAATTAATGACCTACGACTTCGACCTTTTCGTCATCGGTGCCGGTTCCGGCGGTGTGCGCGCCGCGCGCTTTAGCGCAGGTTTCGGAGCCCGCGTTGCGGTTGCTGAAAGCCGCTA (p.Leu52GlnfsTer27) c.241_242insAAGGAGAAATTAATGACCTACGACTTCGACCTTTTCGTCATCGGTGCCGGTTCCGGCGGTGTGCGCGCCGCGCGCTTTAGCGCAGGTTTCGGAGCCCGCGTTGCGGTTGCTGAAAGCCGCTA (p.Leu81GlnfsTer27) c.175_176insAAGGAGAAATTAATGACCTACGACTTCGACCTTTTCGTCATCGGTGCCGGTTCCGGCGGTGTGCGCGCCGCGCGCTTTAGCGCAGGTTTCGGAGCCCGCGTTGCGGTTGCTGAAAGCCGCTA (p.Leu59GlnfsTer27) c.187_188insAAGGAGAAATTAATGACCTACGACTTCGACCTTTTCGTCATCGGTGCCGGTTCCGGCGGTGTGCGCGCCGCGCGCTTTAGCGCAGGTTTCGGAGCCCGCGTTGCGGTTGCTGAAAGCCGCTA (p.Leu63GlnfsTer27) c.148_149insAAGGAGAAATTAATGACCTACGACTTCGACCTTTTCGTCATCGGTGCCGGTTCCGGCGGTGTGCGCGCCGCGCGCTTTAGCGCAGGTTTCGGAGCCCGCGTTGCGGTTGCTGAAAGCCGCTA (p.Leu50GlnfsTer27) n.249_250insAAGGAGAAATTAATGACCTACGACTTCGACCTTTTCGTCATCGGTGCCGGTTCCGGCGGTGTGCGCGCCGCGCGCTTTAGCGCAGGTTTCGGAGCCCGCGTTGCGGTTGCTGAAAGCCGCTA c.-45_-44insAAGGAGAAATTAATGACCTACGACTTCGACCTTTTCGTCATCGGTGCCGGTTCCGGCGGTGTGCGCGCCGCGCGCTTTAGCGCAGGTTTCGGAGCCCGCGTTGCGGTTGCTGAAAGCCGCTA (n.-45_-44insAAGGAGAAATTAATGACCTACGACTTCGACCTTTTCGTCATCGGTGCCGGTTCCGGCGGTGTGCGCGCCGCGCGCTTTAGCGCAGGTTTCGGAGCCCGCGTTGCGGTTGCTGAAAGCCGCTA) n.376_377insAAGGAGAAATTAATGACCTACGACTTCGACCTTTTCGTCATCGGTGCCGGTTCCGGCGGTGTGCGCGCCGCGCGCTTTAGCGCAGGTTTCGGAGCCCGCGTTGCGGTTGCTGAAAGCCGCTA n.202_203insAAGGAGAAATTAATGACCTACGACTTCGACCTTTTCGTCATCGGTGCCGGTTCCGGCGGTGTGCGCGCCGCGCGCTTTAGCGCAGGTTTCGGAGCCCGCGTTGCGGTTGCTGAAAGCCGCTA | |
22 | g.19918990G>A | CA410694064 | TXNRD2 | c.244C>T (p.Leu82Phe) c.154C>T (p.Leu52Phe) c.241C>T (p.Leu81Phe) c.175C>T (p.Leu59Phe) c.187C>T (p.Leu63Phe) c.148C>T (p.Leu50Phe) n.249C>T c.-45C>T (n.-45C>T) n.376C>T n.202C>T | dbSNP gnomAD v4 |
22 | g.19918990G>C | CA410694066 | TXNRD2 | c.244C>G (p.Leu82Val) c.154C>G (p.Leu52Val) c.241C>G (p.Leu81Val) c.175C>G (p.Leu59Val) c.187C>G (p.Leu63Val) c.148C>G (p.Leu50Val) n.249C>G c.-45C>G (n.-45C>G) n.376C>G n.202C>G | |
22 | g.19918990G= | CA2396103796 | TXNRD2 | c.244C= (p.Leu82=) c.154C= (p.Leu52=) c.241C= (p.Leu81=) c.175C= (p.Leu59=) c.187C= (p.Leu63=) c.148C= (p.Leu50=) n.249C= c.-45C= (n.-45C=) n.376C= n.202C= | |
22 | g.19918990G>T | CA410694068 | TXNRD2 | c.244C>A (p.Leu82Ile) c.154C>A (p.Leu52Ile) c.241C>A (p.Leu81Ile) c.175C>A (p.Leu59Ile) c.187C>A (p.Leu63Ile) c.148C>A (p.Leu50Ile) n.249C>A c.-45C>A (n.-45C>A) n.376C>A n.202C>A | dbSNP gnomAD v4 |
22 | g.19918991del | CA2396103795 | TXNRD2 | c.244del (p.Leu82SerfsTer15) c.154del (p.Leu52SerfsTer15) c.241del (p.Leu81SerfsTer15) c.175del (p.Leu59SerfsTer15) c.187del (p.Leu63SerfsTer15) c.148del (p.Leu50SerfsTer15) n.249del c.-45del (n.-45del) n.376del n.202del | dbSNP |
22 | g.19918990_19918991insATAGCGGCTTTCGGCCACCGCCACGCGGGCGCCGAAACCGGCCGCGAAGCGGGCCGCGCGCACGCCGCCGGA | CA1024155189 | TXNRD2 | c.243_244insTCCGGCGGCGTGCGCGCGGCCCGCTTCGCGGCCGGTTTCGGCGCCCGCGTGGCGGTGGCCGAAAGCCGCTAT (p.Gly81_Leu82insSerGlyGlyValArgAlaAlaArgPheAlaAlaGlyPheGlyAlaArgValAlaValAlaGluSerArgTyr) c.153_154insTCCGGCGGCGTGCGCGCGGCCCGCTTCGCGGCCGGTTTCGGCGCCCGCGTGGCGGTGGCCGAAAGCCGCTAT (p.Gly51_Leu52insSerGlyGlyValArgAlaAlaArgPheAlaAlaGlyPheGlyAlaArgValAlaValAlaGluSerArgTyr) c.240_241insTCCGGCGGCGTGCGCGCGGCCCGCTTCGCGGCCGGTTTCGGCGCCCGCGTGGCGGTGGCCGAAAGCCGCTAT (p.Gly80_Leu81insSerGlyGlyValArgAlaAlaArgPheAlaAlaGlyPheGlyAlaArgValAlaValAlaGluSerArgTyr) c.174_175insTCCGGCGGCGTGCGCGCGGCCCGCTTCGCGGCCGGTTTCGGCGCCCGCGTGGCGGTGGCCGAAAGCCGCTAT (p.Gly58_Leu59insSerGlyGlyValArgAlaAlaArgPheAlaAlaGlyPheGlyAlaArgValAlaValAlaGluSerArgTyr) c.186_187insTCCGGCGGCGTGCGCGCGGCCCGCTTCGCGGCCGGTTTCGGCGCCCGCGTGGCGGTGGCCGAAAGCCGCTAT (p.Gly62_Leu63insSerGlyGlyValArgAlaAlaArgPheAlaAlaGlyPheGlyAlaArgValAlaValAlaGluSerArgTyr) c.147_148insTCCGGCGGCGTGCGCGCGGCCCGCTTCGCGGCCGGTTTCGGCGCCCGCGTGGCGGTGGCCGAAAGCCGCTAT (p.Gly49_Leu50insSerGlyGlyValArgAlaAlaArgPheAlaAlaGlyPheGlyAlaArgValAlaValAlaGluSerArgTyr) n.248_249insTCCGGCGGCGTGCGCGCGGCCCGCTTCGCGGCCGGTTTCGGCGCCCGCGTGGCGGTGGCCGAAAGCCGCTAT c.-46_-45insTCCGGCGGCGTGCGCGCGGCCCGCTTCGCGGCCGGTTTCGGCGCCCGCGTGGCGGTGGCCGAAAGCCGCTAT (n.-46_-45insTCCGGCGGCGTGCGCGCGGCCCGCTTCGCGGCCGGTTTCGGCGCCCGCGTGGCGGTGGCCGAAAGCCGCTAT) n.375_376insTCCGGCGGCGTGCGCGCGGCCCGCTTCGCGGCCGGTTTCGGCGCCCGCGTGGCGGTGGCCGAAAGCCGCTAT n.201_202insTCCGGCGGCGTGCGCGCGGCCCGCTTCGCGGCCGGTTTCGGCGCCCGCGTGGCGGTGGCCGAAAGCCGCTAT | gnomAD v3 gnomAD v4 |
22 | g.19918991G>A | CA513369115 | TXNRD2 | c.243C>T (p.Gly81=) c.153C>T (p.Gly51=) c.240C>T (p.Gly80=) c.174C>T (p.Gly58=) c.186C>T (p.Gly62=) c.147C>T (p.Gly49=) n.248C>T c.-46C>T (n.-46C>T) n.375C>T n.201C>T | |
22 | g.19918991G>C | CA513369114 | TXNRD2 | c.243C>G (p.Gly81=) c.153C>G (p.Gly51=) c.240C>G (p.Gly80=) c.174C>G (p.Gly58=) c.186C>G (p.Gly62=) c.147C>G (p.Gly49=) n.248C>G c.-46C>G (n.-46C>G) n.375C>G n.201C>G | |
22 | g.19918991G>T | CA513369113 | TXNRD2 | c.243C>A (p.Gly81=) c.153C>A (p.Gly51=) c.240C>A (p.Gly80=) c.174C>A (p.Gly58=) c.186C>A (p.Gly62=) c.147C>A (p.Gly49=) n.248C>A c.-46C>A (n.-46C>A) n.375C>A n.201C>A | gnomAD v4 |
22 | g.19918991_19918992insTACTG | CA2818401270 | TXNRD2 | c.243_244insAGTAC (p.Leu82SerfsTer17) c.153_154insAGTAC (p.Leu52SerfsTer17) c.240_241insAGTAC (p.Leu81SerfsTer17) c.174_175insAGTAC (p.Leu59SerfsTer17) c.186_187insAGTAC (p.Leu63SerfsTer17) c.147_148insAGTAC (p.Leu50SerfsTer17) n.248_249insAGTAC c.-46_-45insAGTAC (n.-46_-45insAGTAC) n.375_376insAGTAC n.201_202insAGTAC | |
22 | g.19918991_19918992insGCGACCTTCTTG | CA2508523454 | TXNRD2 | c.243_244insAAGAAGGTCGCC (p.Gly81_Leu82insLysLysValAla) c.153_154insAAGAAGGTCGCC (p.Gly51_Leu52insLysLysValAla) c.240_241insAAGAAGGTCGCC (p.Gly80_Leu81insLysLysValAla) c.174_175insAAGAAGGTCGCC (p.Gly58_Leu59insLysLysValAla) c.186_187insAAGAAGGTCGCC (p.Gly62_Leu63insLysLysValAla) c.147_148insAAGAAGGTCGCC (p.Gly49_Leu50insLysLysValAla) n.248_249insAAGAAGGTCGCC c.-46_-45insAAGAAGGTCGCC (n.-46_-45insAAGAAGGTCGCC) n.375_376insAAGAAGGTCGCC n.201_202insAAGAAGGTCGCC | |
22 | g.19918991_19918992insGCGACGCGGGCGCCGGTCTGCGCCGCCATGCGCGCGGCGCGAACGCCGCCGCTGCCG | CA1024155202 | TXNRD2 | c.243_244insGGCAGCGGCGGCGTTCGCGCCGCGCGCATGGCGGCGCAGACCGGCGCCCGCGTCGCC (p.Gly81_Leu82insGlySerGlyGlyValArgAlaAlaArgMetAlaAlaGlnThrGlyAlaArgValAla) c.153_154insGGCAGCGGCGGCGTTCGCGCCGCGCGCATGGCGGCGCAGACCGGCGCCCGCGTCGCC (p.Gly51_Leu52insGlySerGlyGlyValArgAlaAlaArgMetAlaAlaGlnThrGlyAlaArgValAla) c.240_241insGGCAGCGGCGGCGTTCGCGCCGCGCGCATGGCGGCGCAGACCGGCGCCCGCGTCGCC (p.Gly80_Leu81insGlySerGlyGlyValArgAlaAlaArgMetAlaAlaGlnThrGlyAlaArgValAla) c.174_175insGGCAGCGGCGGCGTTCGCGCCGCGCGCATGGCGGCGCAGACCGGCGCCCGCGTCGCC (p.Gly58_Leu59insGlySerGlyGlyValArgAlaAlaArgMetAlaAlaGlnThrGlyAlaArgValAla) c.186_187insGGCAGCGGCGGCGTTCGCGCCGCGCGCATGGCGGCGCAGACCGGCGCCCGCGTCGCC (p.Gly62_Leu63insGlySerGlyGlyValArgAlaAlaArgMetAlaAlaGlnThrGlyAlaArgValAla) c.147_148insGGCAGCGGCGGCGTTCGCGCCGCGCGCATGGCGGCGCAGACCGGCGCCCGCGTCGCC (p.Gly49_Leu50insGlySerGlyGlyValArgAlaAlaArgMetAlaAlaGlnThrGlyAlaArgValAla) n.248_249insGGCAGCGGCGGCGTTCGCGCCGCGCGCATGGCGGCGCAGACCGGCGCCCGCGTCGCC c.-46_-45insGGCAGCGGCGGCGTTCGCGCCGCGCGCATGGCGGCGCAGACCGGCGCCCGCGTCGCC (n.-46_-45insGGCAGCGGCGGCGTTCGCGCCGCGCGCATGGCGGCGCAGACCGGCGCCCGCGTCGCC) n.375_376insGGCAGCGGCGGCGTTCGCGCCGCGCGCATGGCGGCGCAGACCGGCGCCCGCGTCGCC n.201_202insGGCAGCGGCGGCGTTCGCGCCGCGCGCATGGCGGCGCAGACCGGCGCCCGCGTCGCC | gnomAD v3 gnomAD v4 |
22 | g.19918991_19918992insTACTGTT | CA2533702161 | TXNRD2 | c.242_243insAACAGTA (p.Leu82ThrfsTer?) c.152_153insAACAGTA (p.Leu52ThrfsTer?) c.239_240insAACAGTA (p.Leu81ThrfsTer?) c.173_174insAACAGTA (p.Leu59ThrfsTer?) c.185_186insAACAGTA (p.Leu63ThrfsTer?) c.146_147insAACAGTA (p.Leu50ThrfsTer?) n.247_248insAACAGTA c.-47_-46insAACAGTA (n.-47_-46insAACAGTA) n.374_375insAACAGTA n.200_201insAACAGTA | |
22 | g.19918992C>A | CA410694069 | TXNRD2 | c.242G>T (p.Gly81Val) c.152G>T (p.Gly51Val) c.239G>T (p.Gly80Val) c.173G>T (p.Gly58Val) c.185G>T (p.Gly62Val) c.146G>T (p.Gly49Val) n.247G>T c.-47G>T (n.-47G>T) n.374G>T n.200G>T | ClinVar gnomAD v4 |
22 | g.19918992C= | CA2396103797 | TXNRD2 | c.242G= (p.Gly81=) c.152G= (p.Gly51=) c.239G= (p.Gly80=) c.173G= (p.Gly58=) c.185G= (p.Gly62=) c.146G= (p.Gly49=) n.247G= c.-47G= (n.-47G=) n.374G= n.200G= | |
22 | g.19918992C>G | CA410694070 | TXNRD2 | c.242G>C (p.Gly81Ala) c.152G>C (p.Gly51Ala) c.239G>C (p.Gly80Ala) c.173G>C (p.Gly58Ala) c.185G>C (p.Gly62Ala) c.146G>C (p.Gly49Ala) n.247G>C c.-47G>C (n.-47G>C) n.374G>C n.200G>C | |
22 | g.19918992C>T | CA410694072 | TXNRD2 | c.242G>A (p.Gly81Asp) c.152G>A (p.Gly51Asp) c.239G>A (p.Gly80Asp) c.173G>A (p.Gly58Asp) c.185G>A (p.Gly62Asp) c.146G>A (p.Gly49Asp) n.247G>A c.-47G>A (n.-47G>A) n.374G>A n.200G>A | dbSNP gnomAD v2 gnomAD v4 |
22 | g.19918995dup | CA2842906889 | TXNRD2 | c.242dup (p.Leu82ProfsTer?) c.152dup (p.Leu52ProfsTer?) c.239dup (p.Leu81ProfsTer?) c.173dup (p.Leu59ProfsTer?) c.185dup (p.Leu63ProfsTer?) c.146dup (p.Leu50ProfsTer?) n.247dup c.-47dup (n.-47dup) n.374dup n.200dup | |
22 | g.19918995del | CA2655329464 | TXNRD2 | c.242del (p.Gly81AlafsTer16) c.152del (p.Gly51AlafsTer16) c.239del (p.Gly80AlafsTer16) c.173del (p.Gly58AlafsTer16) c.185del (p.Gly62AlafsTer16) c.146del (p.Gly49AlafsTer16) n.247del c.-47del (n.-47del) n.374del n.200del | gnomAD v4 |
22 | g.19918992_19918993insGGGCGCTTTCAATGACGGCGACTTTCGCGCCGTATTCGGCGGCGCGGCGGGCGGTCGCGATGCCGCCGGAACCGCCGCCAATGCAGATGAGGTCGAAGGTTTGCATGGAATCT | CA2818401271 | TXNRD2 | c.241_242insAGATTCCATGCAAACCTTCGACCTCATCTGCATTGGCGGCGGTTCCGGCGGCATCGCGACCGCCCGCCGCGCCGCCGAATACGGCGCGAAAGTCGCCGTCATTGAAAGCGCCC (p.Gly81GlufsTer54) c.151_152insAGATTCCATGCAAACCTTCGACCTCATCTGCATTGGCGGCGGTTCCGGCGGCATCGCGACCGCCCGCCGCGCCGCCGAATACGGCGCGAAAGTCGCCGTCATTGAAAGCGCCC (p.Gly51GlufsTer54) c.238_239insAGATTCCATGCAAACCTTCGACCTCATCTGCATTGGCGGCGGTTCCGGCGGCATCGCGACCGCCCGCCGCGCCGCCGAATACGGCGCGAAAGTCGCCGTCATTGAAAGCGCCC (p.Gly80GlufsTer54) c.172_173insAGATTCCATGCAAACCTTCGACCTCATCTGCATTGGCGGCGGTTCCGGCGGCATCGCGACCGCCCGCCGCGCCGCCGAATACGGCGCGAAAGTCGCCGTCATTGAAAGCGCCC (p.Gly58GlufsTer54) c.184_185insAGATTCCATGCAAACCTTCGACCTCATCTGCATTGGCGGCGGTTCCGGCGGCATCGCGACCGCCCGCCGCGCCGCCGAATACGGCGCGAAAGTCGCCGTCATTGAAAGCGCCC (p.Gly62GlufsTer54) c.145_146insAGATTCCATGCAAACCTTCGACCTCATCTGCATTGGCGGCGGTTCCGGCGGCATCGCGACCGCCCGCCGCGCCGCCGAATACGGCGCGAAAGTCGCCGTCATTGAAAGCGCCC (p.Gly49GlufsTer54) n.246_247insAGATTCCATGCAAACCTTCGACCTCATCTGCATTGGCGGCGGTTCCGGCGGCATCGCGACCGCCCGCCGCGCCGCCGAATACGGCGCGAAAGTCGCCGTCATTGAAAGCGCCC c.-48_-47insAGATTCCATGCAAACCTTCGACCTCATCTGCATTGGCGGCGGTTCCGGCGGCATCGCGACCGCCCGCCGCGCCGCCGAATACGGCGCGAAAGTCGCCGTCATTGAAAGCGCCC (n.-48_-47insAGATTCCATGCAAACCTTCGACCTCATCTGCATTGGCGGCGGTTCCGGCGGCATCGCGACCGCCCGCCGCGCCGCCGAATACGGCGCGAAAGTCGCCGTCATTGAAAGCGCCC) n.373_374insAGATTCCATGCAAACCTTCGACCTCATCTGCATTGGCGGCGGTTCCGGCGGCATCGCGACCGCCCGCCGCGCCGCCGAATACGGCGCGAAAGTCGCCGTCATTGAAAGCGCCC n.199_200insAGATTCCATGCAAACCTTCGACCTCATCTGCATTGGCGGCGGTTCCGGCGGCATCGCGACCGCCCGCCGCGCCGCCGAATACGGCGCGAAAGTCGCCGTCATTGAAAGCGCCC | |
22 | g.19918993C>A | CA410694074 | TXNRD2 | c.241G>T (p.Gly81Cys) c.151G>T (p.Gly51Cys) c.238G>T (p.Gly80Cys) c.172G>T (p.Gly58Cys) c.184G>T (p.Gly62Cys) c.145G>T (p.Gly49Cys) n.246G>T c.-48G>T (n.-48G>T) n.373G>T n.199G>T | |
22 | g.19918993C>G | CA410694075 | TXNRD2 | c.241G>C (p.Gly81Arg) c.151G>C (p.Gly51Arg) c.238G>C (p.Gly80Arg) c.172G>C (p.Gly58Arg) c.184G>C (p.Gly62Arg) c.145G>C (p.Gly49Arg) n.246G>C c.-48G>C (n.-48G>C) n.373G>C n.199G>C | dbSNP |
22 | g.19918993C>T | CA410694077 | TXNRD2 | c.241G>A (p.Gly81Ser) c.151G>A (p.Gly51Ser) c.238G>A (p.Gly80Ser) c.172G>A (p.Gly58Ser) c.184G>A (p.Gly62Ser) c.145G>A (p.Gly49Ser) n.246G>A c.-48G>A (n.-48G>A) n.373G>A n.199G>A | |
22 | g.19918994C>A | CA410694082 | TXNRD2 | c.240G>T (p.Trp80Cys) c.150G>T (p.Trp50Cys) c.237G>T (p.Trp79Cys) c.171G>T (p.Trp57Cys) c.183G>T (p.Trp61Cys) c.144G>T (p.Trp48Cys) n.245G>T c.-49G>T (n.-49G>T) n.372G>T n.198G>T | gnomAD v4 |
22 | g.19918994C= | CA2396103798 | TXNRD2 | c.240G= (p.Trp80=) c.150G= (p.Trp50=) c.237G= (p.Trp79=) c.171G= (p.Trp57=) c.183G= (p.Trp61=) c.144G= (p.Trp48=) n.245G= c.-49G= (n.-49G=) n.372G= n.198G= | |
22 | g.19918994C>G | CA410694079 | TXNRD2 | c.240G>C (p.Trp80Cys) c.150G>C (p.Trp50Cys) c.237G>C (p.Trp79Cys) c.171G>C (p.Trp57Cys) c.183G>C (p.Trp61Cys) c.144G>C (p.Trp48Cys) n.245G>C c.-49G>C (n.-49G>C) n.372G>C n.198G>C | |
22 | g.19918994C>T | CA410694081 | TXNRD2 | c.240G>A (p.Trp80Ter) c.150G>A (p.Trp50Ter) c.237G>A (p.Trp79Ter) c.171G>A (p.Trp57Ter) c.183G>A (p.Trp61Ter) c.144G>A (p.Trp48Ter) n.245G>A c.-49G>A (n.-49G>A) n.372G>A n.198G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918994_19918995insG | CA2506066547 | TXNRD2 | c.239_240insC (p.Trp80CysfsTer?) c.149_150insC (p.Trp50CysfsTer?) c.236_237insC (p.Trp79CysfsTer?) c.170_171insC (p.Trp57CysfsTer?) c.182_183insC (p.Trp61CysfsTer?) c.143_144insC (p.Trp48CysfsTer?) n.244_245insC c.-50_-49insC (n.-50_-49insC) n.371_372insC n.197_198insC | gnomAD v4 |
22 | g.19918994_19918995insAGCTGCGCAGCCCGGATGGCGGCGATGTAGCCG | CA2818401272 | TXNRD2 | c.239_240insCGGCTACATCGCCGCCATCCGGGCTGCGCAGCT (p.Trp80delinsCysGlyTyrIleAlaAlaIleArgAlaAlaGlnLeu) c.149_150insCGGCTACATCGCCGCCATCCGGGCTGCGCAGCT (p.Trp50delinsCysGlyTyrIleAlaAlaIleArgAlaAlaGlnLeu) c.236_237insCGGCTACATCGCCGCCATCCGGGCTGCGCAGCT (p.Trp79delinsCysGlyTyrIleAlaAlaIleArgAlaAlaGlnLeu) c.170_171insCGGCTACATCGCCGCCATCCGGGCTGCGCAGCT (p.Trp57delinsCysGlyTyrIleAlaAlaIleArgAlaAlaGlnLeu) c.182_183insCGGCTACATCGCCGCCATCCGGGCTGCGCAGCT (p.Trp61delinsCysGlyTyrIleAlaAlaIleArgAlaAlaGlnLeu) c.143_144insCGGCTACATCGCCGCCATCCGGGCTGCGCAGCT (p.Trp48delinsCysGlyTyrIleAlaAlaIleArgAlaAlaGlnLeu) n.244_245insCGGCTACATCGCCGCCATCCGGGCTGCGCAGCT c.-50_-49insCGGCTACATCGCCGCCATCCGGGCTGCGCAGCT (n.-50_-49insCGGCTACATCGCCGCCATCCGGGCTGCGCAGCT) n.371_372insCGGCTACATCGCCGCCATCCGGGCTGCGCAGCT n.197_198insCGGCTACATCGCCGCCATCCGGGCTGCGCAGCT | |
22 | g.19918994_19918995insGCGTGTCCGAGGCGCTCGGCAGCCAGGTAGCCGCCGGGGCCCG | CA2548179355 | TXNRD2 | c.239_240insCGGGCCCCGGCGGCTACCTGGCTGCCGAGCGCCTCGGACACGC (p.Trp80CysfsTer?) c.149_150insCGGGCCCCGGCGGCTACCTGGCTGCCGAGCGCCTCGGACACGC (p.Trp50CysfsTer?) c.236_237insCGGGCCCCGGCGGCTACCTGGCTGCCGAGCGCCTCGGACACGC (p.Trp79CysfsTer?) c.170_171insCGGGCCCCGGCGGCTACCTGGCTGCCGAGCGCCTCGGACACGC (p.Trp57CysfsTer?) c.182_183insCGGGCCCCGGCGGCTACCTGGCTGCCGAGCGCCTCGGACACGC (p.Trp61CysfsTer?) c.143_144insCGGGCCCCGGCGGCTACCTGGCTGCCGAGCGCCTCGGACACGC (p.Trp48CysfsTer?) n.244_245insCGGGCCCCGGCGGCTACCTGGCTGCCGAGCGCCTCGGACACGC c.-50_-49insCGGGCCCCGGCGGCTACCTGGCTGCCGAGCGCCTCGGACACGC (n.-50_-49insCGGGCCCCGGCGGCTACCTGGCTGCCGAGCGCCTCGGACACGC) n.371_372insCGGGCCCCGGCGGCTACCTGGCTGCCGAGCGCCTCGGACACGC n.197_198insCGGGCCCCGGCGGCTACCTGGCTGCCGAGCGCCTCGGACACGC | |
22 | g.19918995C>A | CA410694084 | TXNRD2 | c.239G>T (p.Trp80Leu) c.149G>T (p.Trp50Leu) c.236G>T (p.Trp79Leu) c.170G>T (p.Trp57Leu) c.182G>T (p.Trp61Leu) c.143G>T (p.Trp48Leu) n.244G>T c.-50G>T (n.-50G>T) n.371G>T n.197G>T | |
22 | g.19918995C>G | CA410694085 | TXNRD2 | c.239G>C (p.Trp80Ser) c.149G>C (p.Trp50Ser) c.236G>C (p.Trp79Ser) c.170G>C (p.Trp57Ser) c.182G>C (p.Trp61Ser) c.143G>C (p.Trp48Ser) n.244G>C c.-50G>C (n.-50G>C) n.371G>C n.197G>C | |
22 | g.19918995C>T | CA410694087 | TXNRD2 | c.239G>A (p.Trp80Ter) c.149G>A (p.Trp50Ter) c.236G>A (p.Trp79Ter) c.170G>A (p.Trp57Ter) c.182G>A (p.Trp61Ter) c.143G>A (p.Trp48Ter) n.244G>A c.-50G>A (n.-50G>A) n.371G>A n.197G>A | |
22 | g.19918996A= | CA2396103799 | TXNRD2 | c.238T= (p.Trp80=) c.148T= (p.Trp50=) c.235T= (p.Trp79=) c.169T= (p.Trp57=) c.181T= (p.Trp61=) c.142T= (p.Trp48=) n.243T= c.-51T= (n.-51T=) n.370T= n.196T= | |
22 | g.19918996A>C | CA410694088 | TXNRD2 | c.238T>G (p.Trp80Gly) c.148T>G (p.Trp50Gly) c.235T>G (p.Trp79Gly) c.169T>G (p.Trp57Gly) c.181T>G (p.Trp61Gly) c.142T>G (p.Trp48Gly) n.243T>G c.-51T>G (n.-51T>G) n.370T>G n.196T>G | |
22 | g.19918996A>G | CA10104281 | TXNRD2 | c.238T>C (p.Trp80Arg) c.148T>C (p.Trp50Arg) c.235T>C (p.Trp79Arg) c.169T>C (p.Trp57Arg) c.181T>C (p.Trp61Arg) c.142T>C (p.Trp48Arg) n.243T>C c.-51T>C (n.-51T>C) n.370T>C n.196T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.19918996A>T | CA410694091 | TXNRD2 | c.238T>A (p.Trp80Arg) c.148T>A (p.Trp50Arg) c.235T>A (p.Trp79Arg) c.169T>A (p.Trp57Arg) c.181T>A (p.Trp61Arg) c.142T>A (p.Trp48Arg) n.243T>A c.-51T>A (n.-51T>A) n.370T>A n.196T>A | |
22 | g.19918997C>A | CA513369117 | TXNRD2 | c.237G>T (p.Arg79=) c.147G>T (p.Arg49=) c.234G>T (p.Arg78=) c.168G>T (p.Arg56=) c.180G>T (p.Arg60=) c.141G>T (p.Arg47=) n.242G>T c.-52G>T (n.-52G>T) n.369G>T n.195G>T | |
22 | g.19918997C= | CA2396103800 | TXNRD2 | c.237G= (p.Arg79=) c.147G= (p.Arg49=) c.234G= (p.Arg78=) c.168G= (p.Arg56=) c.180G= (p.Arg60=) c.141G= (p.Arg47=) n.242G= c.-52G= (n.-52G=) n.369G= n.195G= | |
22 | g.19918997C>G | CA513369116 | TXNRD2 | c.237G>C (p.Arg79=) c.147G>C (p.Arg49=) c.234G>C (p.Arg78=) c.168G>C (p.Arg56=) c.180G>C (p.Arg60=) c.141G>C (p.Arg47=) n.242G>C c.-52G>C (n.-52G>C) n.369G>C n.195G>C | |
22 | g.19918997C>T | CA10104282 | TXNRD2 | c.237G>A (p.Arg79=) c.147G>A (p.Arg49=) c.234G>A (p.Arg78=) c.168G>A (p.Arg56=) c.180G>A (p.Arg60=) c.141G>A (p.Arg47=) n.242G>A c.-52G>A (n.-52G>A) n.369G>A n.195G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.19918998C>A | CA345904 | TXNRD2 | c.236G>T (p.Arg79Leu) c.146G>T (p.Arg49Leu) c.233G>T (p.Arg78Leu) c.167G>T (p.Arg56Leu) c.179G>T (p.Arg60Leu) c.140G>T (p.Arg47Leu) n.241G>T c.-53G>T (n.-53G>T) n.368G>T n.194G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918998C= | CA2396103801 | TXNRD2 | c.236G= (p.Arg79=) c.146G= (p.Arg49=) c.233G= (p.Arg78=) c.167G= (p.Arg56=) c.179G= (p.Arg60=) c.140G= (p.Arg47=) n.241G= c.-53G= (n.-53G=) n.368G= n.194G= | |
22 | g.19918998C>G | CA410694094 | TXNRD2 | c.236G>C (p.Arg79Pro) c.146G>C (p.Arg49Pro) c.233G>C (p.Arg78Pro) c.167G>C (p.Arg56Pro) c.179G>C (p.Arg60Pro) c.140G>C (p.Arg47Pro) n.241G>C c.-53G>C (n.-53G>C) n.368G>C n.194G>C | |
22 | g.19918998C>T | CA068118 | TXNRD2 | c.236G>A (p.Arg79Gln) c.146G>A (p.Arg49Gln) c.233G>A (p.Arg78Gln) c.167G>A (p.Arg56Gln) c.179G>A (p.Arg60Gln) c.140G>A (p.Arg47Gln) n.241G>A c.-53G>A (n.-53G>A) n.368G>A n.194G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918999G>A | CA10104283 | TXNRD2 | c.235C>T (p.Arg79Trp) c.145C>T (p.Arg49Trp) c.232C>T (p.Arg78Trp) c.166C>T (p.Arg56Trp) c.178C>T (p.Arg60Trp) c.139C>T (p.Arg47Trp) n.240C>T c.-54C>T (n.-54C>T) n.367C>T n.193C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
22 | g.19918999G>C | CA410694097 | TXNRD2 | c.235C>G (p.Arg79Gly) c.145C>G (p.Arg49Gly) c.232C>G (p.Arg78Gly) c.166C>G (p.Arg56Gly) c.178C>G (p.Arg60Gly) c.139C>G (p.Arg47Gly) n.240C>G c.-54C>G (n.-54C>G) n.367C>G n.193C>G | |
22 | g.19918999G= | CA2396103802 | TXNRD2 | c.235C= (p.Arg79=) c.145C= (p.Arg49=) c.232C= (p.Arg78=) c.166C= (p.Arg56=) c.178C= (p.Arg60=) c.139C= (p.Arg47=) n.240C= c.-54C= (n.-54C=) n.367C= n.193C= | |
22 | g.19918999G>T | CA513369118 | TXNRD2 | c.235C>A (p.Arg79=) c.145C>A (p.Arg49=) c.232C>A (p.Arg78=) c.166C>A (p.Arg56=) c.178C>A (p.Arg60=) c.139C>A (p.Arg47=) n.240C>A c.-54C>A (n.-54C>A) n.367C>A n.193C>A | gnomAD v4 |
22 | g.19919000G>A | CA513369121 | TXNRD2 | c.234C>T (p.Thr78=) c.144C>T (p.Thr48=) c.231C>T (p.Thr77=) c.165C>T (p.Thr55=) c.177C>T (p.Thr59=) c.138C>T (p.Thr46=) n.239C>T c.-55C>T (n.-55C>T) n.366C>T n.192C>T | dbSNP gnomAD v2 gnomAD v4 |
22 | g.19919000G>C | CA513369120 | TXNRD2 | c.234C>G (p.Thr78=) c.144C>G (p.Thr48=) c.231C>G (p.Thr77=) c.165C>G (p.Thr55=) c.177C>G (p.Thr59=) c.138C>G (p.Thr46=) n.239C>G c.-55C>G (n.-55C>G) n.366C>G n.192C>G | |
22 | g.19919000G= | CA2396103803 | TXNRD2 | c.234C= (p.Thr78=) c.144C= (p.Thr48=) c.231C= (p.Thr77=) c.165C= (p.Thr55=) c.177C= (p.Thr59=) c.138C= (p.Thr46=) n.239C= c.-55C= (n.-55C=) n.366C= n.192C= | |
22 | g.19919000G>T | CA513369119 | TXNRD2 | c.234C>A (p.Thr78=) c.144C>A (p.Thr48=) c.231C>A (p.Thr77=) c.165C>A (p.Thr55=) c.177C>A (p.Thr59=) c.138C>A (p.Thr46=) n.239C>A c.-55C>A (n.-55C>A) n.366C>A n.192C>A | gnomAD v4 COSMIC COSMIC |
22 | g.19919001G>A | CA410694101 | TXNRD2 | c.233C>T (p.Thr78Ile) c.143C>T (p.Thr48Ile) c.230C>T (p.Thr77Ile) c.164C>T (p.Thr55Ile) c.176C>T (p.Thr59Ile) c.137C>T (p.Thr46Ile) n.238C>T c.-56C>T (n.-56C>T) n.365C>T n.191C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19919001G>C | CA410694102 | TXNRD2 | c.233C>G (p.Thr78Ser) c.143C>G (p.Thr48Ser) c.230C>G (p.Thr77Ser) c.164C>G (p.Thr55Ser) c.176C>G (p.Thr59Ser) c.137C>G (p.Thr46Ser) n.238C>G c.-56C>G (n.-56C>G) n.365C>G n.191C>G | |
22 | g.19919001G= | CA2396103804 | TXNRD2 | c.233C= (p.Thr78=) c.143C= (p.Thr48=) c.230C= (p.Thr77=) c.164C= (p.Thr55=) c.176C= (p.Thr59=) c.137C= (p.Thr46=) n.238C= c.-56C= (n.-56C=) n.365C= n.191C= | |
22 | g.19919001G>T | CA410694099 | TXNRD2 | c.233C>A (p.Thr78Asn) c.143C>A (p.Thr48Asn) c.230C>A (p.Thr77Asn) c.164C>A (p.Thr55Asn) c.176C>A (p.Thr59Asn) c.137C>A (p.Thr46Asn) n.238C>A c.-56C>A (n.-56C>A) n.365C>A n.191C>A | gnomAD v4 |
22 | g.19919002T>A | CA410694104 | TXNRD2 | c.232A>T (p.Thr78Ser) c.142A>T (p.Thr48Ser) c.229A>T (p.Thr77Ser) c.163A>T (p.Thr55Ser) c.175A>T (p.Thr59Ser) c.136A>T (p.Thr46Ser) n.237A>T c.-57A>T (n.-57A>T) n.364A>T n.190A>T | |
22 | g.19919002T>C | CA410694106 | TXNRD2 | c.232A>G (p.Thr78Ala) c.142A>G (p.Thr48Ala) c.229A>G (p.Thr77Ala) c.163A>G (p.Thr55Ala) c.175A>G (p.Thr59Ala) c.136A>G (p.Thr46Ala) n.237A>G c.-57A>G (n.-57A>G) n.364A>G n.190A>G | |
22 | g.19919002T>G | CA410694108 | TXNRD2 | c.232A>C (p.Thr78Pro) c.142A>C (p.Thr48Pro) c.229A>C (p.Thr77Pro) c.163A>C (p.Thr55Pro) c.175A>C (p.Thr59Pro) c.136A>C (p.Thr46Pro) n.237A>C c.-57A>C (n.-57A>C) n.364A>C n.190A>C | |
22 | g.19919003G>A | CA513369125 | TXNRD2 | c.231C>T (p.Gly77=) c.141C>T (p.Gly47=) c.228C>T (p.Gly76=) c.162C>T (p.Gly54=) c.174C>T (p.Gly58=) c.135C>T (p.Gly45=) n.236C>T c.-58C>T (n.-58C>T) n.363C>T n.189C>T | gnomAD v4 |
22 | g.19919003G>C | CA513369124 | TXNRD2 | c.231C>G (p.Gly77=) c.141C>G (p.Gly47=) c.228C>G (p.Gly76=) c.162C>G (p.Gly54=) c.174C>G (p.Gly58=) c.135C>G (p.Gly45=) n.236C>G c.-58C>G (n.-58C>G) n.363C>G n.189C>G | |
22 | g.19919003G>T | CA513369123 | TXNRD2 | c.231C>A (p.Gly77=) c.141C>A (p.Gly47=) c.228C>A (p.Gly76=) c.162C>A (p.Gly54=) c.174C>A (p.Gly58=) c.135C>A (p.Gly45=) n.236C>A c.-58C>A (n.-58C>A) n.363C>A n.189C>A | gnomAD v4 |
22 | g.19919004C>A | CA410694109 | TXNRD2 | c.230G>T (p.Gly77Val) c.140G>T (p.Gly47Val) c.227G>T (p.Gly76Val) c.161G>T (p.Gly54Val) c.173G>T (p.Gly58Val) c.134G>T (p.Gly45Val) n.235G>T c.-59G>T (n.-59G>T) n.362G>T n.188G>T | |
22 | g.19919004C>G | CA410694111 | TXNRD2 | c.230G>C (p.Gly77Ala) c.140G>C (p.Gly47Ala) c.227G>C (p.Gly76Ala) c.161G>C (p.Gly54Ala) c.173G>C (p.Gly58Ala) c.134G>C (p.Gly45Ala) n.235G>C c.-59G>C (n.-59G>C) n.362G>C n.188G>C | |
22 | g.19919004C>T | CA410694113 | TXNRD2 | c.230G>A (p.Gly77Asp) c.140G>A (p.Gly47Asp) c.227G>A (p.Gly76Asp) c.161G>A (p.Gly54Asp) c.173G>A (p.Gly58Asp) c.134G>A (p.Gly45Asp) n.235G>A c.-59G>A (n.-59G>A) n.362G>A n.188G>A | gnomAD v4 |
22 | g.19919005C>A | CA410694115 | TXNRD2 | c.230-1G>T (n.230-1G>T) c.140-1G>T (n.140-1G>T) c.227-1G>T (n.227-1G>T) c.161-1G>T (n.161-1G>T) c.173-1G>T (n.173-1G>T) c.134-1G>T (n.134-1G>T) n.235-1G>T c.-59-1G>T (n.-59-1G>T) n.362-1G>T n.188-1G>T | |
22 | g.19919005C>G | CA410694116 | TXNRD2 | c.230-1G>C (n.230-1G>C) c.140-1G>C (n.140-1G>C) c.227-1G>C (n.227-1G>C) c.161-1G>C (n.161-1G>C) c.173-1G>C (n.173-1G>C) c.134-1G>C (n.134-1G>C) n.235-1G>C c.-59-1G>C (n.-59-1G>C) n.362-1G>C n.188-1G>C | |
22 | g.19919005C>T | CA410694117 | TXNRD2 | c.230-1G>A (n.230-1G>A) c.140-1G>A (n.140-1G>A) c.227-1G>A (n.227-1G>A) c.161-1G>A (n.161-1G>A) c.173-1G>A (n.173-1G>A) c.134-1G>A (n.134-1G>A) n.235-1G>A c.-59-1G>A (n.-59-1G>A) n.362-1G>A n.188-1G>A | |
22 | g.19919006T>A | CA410694119 | TXNRD2 | c.230-2A>T (n.230-2A>T) c.140-2A>T (n.140-2A>T) c.227-2A>T (n.227-2A>T) c.161-2A>T (n.161-2A>T) c.173-2A>T (n.173-2A>T) c.134-2A>T (n.134-2A>T) n.235-2A>T c.-59-2A>T (n.-59-2A>T) n.362-2A>T n.188-2A>T | |
22 | g.19919006T>C | CA410694120 | TXNRD2 | c.230-2A>G (n.230-2A>G) c.140-2A>G (n.140-2A>G) c.227-2A>G (n.227-2A>G) c.161-2A>G (n.161-2A>G) c.173-2A>G (n.173-2A>G) c.134-2A>G (n.134-2A>G) n.235-2A>G c.-59-2A>G (n.-59-2A>G) n.362-2A>G n.188-2A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19919006T>G | CA410694122 | TXNRD2 | c.230-2A>C (n.230-2A>C) c.140-2A>C (n.140-2A>C) c.227-2A>C (n.227-2A>C) c.161-2A>C (n.161-2A>C) c.173-2A>C (n.173-2A>C) c.134-2A>C (n.134-2A>C) n.235-2A>C c.-59-2A>C (n.-59-2A>C) n.362-2A>C n.188-2A>C | |
22 | g.19919006T= | CA2396103805 | TXNRD2 | c.230-2A= (n.230-2A=) c.140-2A= (n.140-2A=) c.227-2A= (n.227-2A=) c.161-2A= (n.161-2A=) c.173-2A= (n.173-2A=) c.134-2A= (n.134-2A=) n.235-2A= c.-59-2A= (n.-59-2A=) n.362-2A= n.188-2A= | |
22 | g.19919007G>T | CA2655329512 | TXNRD2 | c.230-3C>A (n.230-3C>A) c.140-3C>A (n.140-3C>A) c.227-3C>A (n.227-3C>A) c.161-3C>A (n.161-3C>A) c.173-3C>A (n.173-3C>A) c.134-3C>A (n.134-3C>A) n.235-3C>A c.-59-3C>A (n.-59-3C>A) n.362-3C>A n.188-3C>A | gnomAD v4 |
22 | g.19919009dup | CA2396103806 | TXNRD2 | c.230-3dup (n.230-3dup) c.140-3dup (n.140-3dup) c.227-3dup (n.227-3dup) c.161-3dup (n.161-3dup) c.173-3dup (n.173-3dup) c.134-3dup (n.134-3dup) n.235-3dup c.-59-3dup (n.-59-3dup) n.362-3dup n.188-3dup | dbSNP |
22 | g.19919009del | CA2655329508 | TXNRD2 | c.230-3del (n.230-3del) c.140-3del (n.140-3del) c.227-3del (n.227-3del) c.161-3del (n.161-3del) c.173-3del (n.173-3del) c.134-3del (n.134-3del) n.235-3del c.-59-3del (n.-59-3del) n.362-3del n.188-3del | gnomAD v4 |
22 | g.19919008G>A | CA322105584 | TXNRD2 | c.230-4C>T (n.230-4C>T) c.140-4C>T (n.140-4C>T) c.227-4C>T (n.227-4C>T) c.161-4C>T (n.161-4C>T) c.173-4C>T (n.173-4C>T) c.134-4C>T (n.134-4C>T) n.235-4C>T c.-59-4C>T (n.-59-4C>T) n.362-4C>T n.188-4C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.19919008G= | CA2396103807 | TXNRD2 | c.230-4C= (n.230-4C=) c.140-4C= (n.140-4C=) c.227-4C= (n.227-4C=) c.161-4C= (n.161-4C=) c.173-4C= (n.173-4C=) c.134-4C= (n.134-4C=) n.235-4C= c.-59-4C= (n.-59-4C=) n.362-4C= n.188-4C= | |
22 | g.19919008G>T | CA2655329516 | TXNRD2 | c.230-4C>A (n.230-4C>A) c.140-4C>A (n.140-4C>A) c.227-4C>A (n.227-4C>A) c.161-4C>A (n.161-4C>A) c.173-4C>A (n.173-4C>A) c.134-4C>A (n.134-4C>A) n.235-4C>A c.-59-4C>A (n.-59-4C>A) n.362-4C>A n.188-4C>A | gnomAD v4 |
22 | g.19919009G>T | CA2655329518 | TXNRD2 | c.230-5C>A (n.230-5C>A) c.140-5C>A (n.140-5C>A) c.227-5C>A (n.227-5C>A) c.161-5C>A (n.161-5C>A) c.173-5C>A (n.173-5C>A) c.134-5C>A (n.134-5C>A) n.235-5C>A c.-59-5C>A (n.-59-5C>A) n.362-5C>A n.188-5C>A | gnomAD v4 |
22 | g.19919010A= | CA2396103808 | TXNRD2 | c.230-6T= (n.230-6T=) c.140-6T= (n.140-6T=) c.227-6T= (n.227-6T=) c.161-6T= (n.161-6T=) c.173-6T= (n.173-6T=) c.134-6T= (n.134-6T=) n.235-6T= c.-59-6T= (n.-59-6T=) n.362-6T= n.188-6T= | |
22 | g.19919010A>G | CA2396103809 | TXNRD2 | c.230-6T>C (n.230-6T>C) c.140-6T>C (n.140-6T>C) c.227-6T>C (n.227-6T>C) c.161-6T>C (n.161-6T>C) c.173-6T>C (n.173-6T>C) c.134-6T>C (n.134-6T>C) n.235-6T>C c.-59-6T>C (n.-59-6T>C) n.362-6T>C n.188-6T>C | dbSNP gnomAD v4 |
22 | g.19919011C>A | CA2500733641 | TXNRD2 | c.230-7G>T (n.230-7G>T) c.140-7G>T (n.140-7G>T) c.227-7G>T (n.227-7G>T) c.161-7G>T (n.161-7G>T) c.173-7G>T (n.173-7G>T) c.134-7G>T (n.134-7G>T) n.235-7G>T c.-59-7G>T (n.-59-7G>T) n.362-7G>T n.188-7G>T | |
22 | g.19919011C= | CA2396103810 | TXNRD2 | c.230-7G= (n.230-7G=) c.140-7G= (n.140-7G=) c.227-7G= (n.227-7G=) c.161-7G= (n.161-7G=) c.173-7G= (n.173-7G=) c.134-7G= (n.134-7G=) n.235-7G= c.-59-7G= (n.-59-7G=) n.362-7G= n.188-7G= | |
22 | g.19919011C>G | CA2577648399 | TXNRD2 | c.230-7G>C (n.230-7G>C) c.140-7G>C (n.140-7G>C) c.227-7G>C (n.227-7G>C) c.161-7G>C (n.161-7G>C) c.173-7G>C (n.173-7G>C) c.134-7G>C (n.134-7G>C) n.235-7G>C c.-59-7G>C (n.-59-7G>C) n.362-7G>C n.188-7G>C | |
22 | g.19919011C>T | CA10104284 | TXNRD2 | c.230-7G>A (n.230-7G>A) c.140-7G>A (n.140-7G>A) c.227-7G>A (n.227-7G>A) c.161-7G>A (n.161-7G>A) c.173-7G>A (n.173-7G>A) c.134-7G>A (n.134-7G>A) n.235-7G>A c.-59-7G>A (n.-59-7G>A) n.362-7G>A n.188-7G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19919012G>A | CA10104285 | TXNRD2 | c.230-8C>T (n.230-8C>T) c.140-8C>T (n.140-8C>T) c.227-8C>T (n.227-8C>T) c.161-8C>T (n.161-8C>T) c.173-8C>T (n.173-8C>T) c.134-8C>T (n.134-8C>T) n.235-8C>T c.-59-8C>T (n.-59-8C>T) n.362-8C>T n.188-8C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19919012G= | CA2396103811 | TXNRD2 | c.230-8C= (n.230-8C=) c.140-8C= (n.140-8C=) c.227-8C= (n.227-8C=) c.161-8C= (n.161-8C=) c.173-8C= (n.173-8C=) c.134-8C= (n.134-8C=) n.235-8C= c.-59-8C= (n.-59-8C=) n.362-8C= n.188-8C= | |
22 | g.19919012G>T | CA2655329523 | TXNRD2 | c.230-8C>A (n.230-8C>A) c.140-8C>A (n.140-8C>A) c.227-8C>A (n.227-8C>A) c.161-8C>A (n.161-8C>A) c.173-8C>A (n.173-8C>A) c.134-8C>A (n.134-8C>A) n.235-8C>A c.-59-8C>A (n.-59-8C>A) n.362-8C>A n.188-8C>A | gnomAD v4 |
22 | g.19919013T>C | CA10104286 | TXNRD2 | c.230-9A>G (n.230-9A>G) c.140-9A>G (n.140-9A>G) c.227-9A>G (n.227-9A>G) c.161-9A>G (n.161-9A>G) c.173-9A>G (n.173-9A>G) c.134-9A>G (n.134-9A>G) n.235-9A>G c.-59-9A>G (n.-59-9A>G) n.362-9A>G n.188-9A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19919013T= | CA2396103812 | TXNRD2 | c.230-9A= (n.230-9A=) c.140-9A= (n.140-9A=) c.227-9A= (n.227-9A=) c.161-9A= (n.161-9A=) c.173-9A= (n.173-9A=) c.134-9A= (n.134-9A=) n.235-9A= c.-59-9A= (n.-59-9A=) n.362-9A= n.188-9A= | |
22 | g.19919013dup | CA2818401273 | TXNRD2 | c.230-9dup (n.230-9dup) c.140-9dup (n.140-9dup) c.227-9dup (n.227-9dup) c.161-9dup (n.161-9dup) c.173-9dup (n.173-9dup) c.134-9dup (n.134-9dup) n.235-9dup c.-59-9dup (n.-59-9dup) n.362-9dup n.188-9dup | |
22 | g.19919013_19919014delinsTG | CA2396103813 | TXNRD2 | c.230-10_230-9delinsCA (n.230-10_230-9delinsCA) c.140-10_140-9delinsCA (n.140-10_140-9delinsCA) c.227-10_227-9delinsCA (n.227-10_227-9delinsCA) c.161-10_161-9delinsCA (n.161-10_161-9delinsCA) c.173-10_173-9delinsCA (n.173-10_173-9delinsCA) c.134-10_134-9delinsCA (n.134-10_134-9delinsCA) n.235-10_235-9delinsCA c.-59-10_-59-9delinsCA (n.-59-10_-59-9delinsCA) n.362-10_362-9delinsCA n.188-10_188-9delinsCA | |
22 | g.19919014G>T | CA2655329529 | TXNRD2 | c.230-10C>A (n.230-10C>A) c.140-10C>A (n.140-10C>A) c.227-10C>A (n.227-10C>A) c.161-10C>A (n.161-10C>A) c.173-10C>A (n.173-10C>A) c.134-10C>A (n.134-10C>A) n.235-10C>A c.-59-10C>A (n.-59-10C>A) n.362-10C>A n.188-10C>A | gnomAD v4 |
22 | g.19919016del | CA10104287 | TXNRD2 | c.230-10del (n.230-10del) c.140-10del (n.140-10del) c.227-10del (n.227-10del) c.161-10del (n.161-10del) c.173-10del (n.173-10del) c.134-10del (n.134-10del) n.235-10del c.-59-10del (n.-59-10del) n.362-10del n.188-10del | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.19919015G>A | CA10104288 | TXNRD2 | c.230-11C>T (n.230-11C>T) c.140-11C>T (n.140-11C>T) c.227-11C>T (n.227-11C>T) c.161-11C>T (n.161-11C>T) c.173-11C>T (n.173-11C>T) c.134-11C>T (n.134-11C>T) n.235-11C>T c.-59-11C>T (n.-59-11C>T) n.362-11C>T n.188-11C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19919015G>C | CA10104289 | TXNRD2 | c.230-11C>G (n.230-11C>G) c.140-11C>G (n.140-11C>G) c.227-11C>G (n.227-11C>G) c.161-11C>G (n.161-11C>G) c.173-11C>G (n.173-11C>G) c.134-11C>G (n.134-11C>G) n.235-11C>G c.-59-11C>G (n.-59-11C>G) n.362-11C>G n.188-11C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.19919015G= | CA2396103814 | TXNRD2 | c.230-11C= (n.230-11C=) c.140-11C= (n.140-11C=) c.227-11C= (n.227-11C=) c.161-11C= (n.161-11C=) c.173-11C= (n.173-11C=) c.134-11C= (n.134-11C=) n.235-11C= c.-59-11C= (n.-59-11C=) n.362-11C= n.188-11C= | |
22 | g.19919015G>T | CA2655329532 | TXNRD2 | c.230-11C>A (n.230-11C>A) c.140-11C>A (n.140-11C>A) c.227-11C>A (n.227-11C>A) c.161-11C>A (n.161-11C>A) c.173-11C>A (n.173-11C>A) c.134-11C>A (n.134-11C>A) n.235-11C>A c.-59-11C>A (n.-59-11C>A) n.362-11C>A n.188-11C>A | gnomAD v4 |
22 | g.19919016G>A | CA2737987432 | TXNRD2 | c.230-12C>T (n.230-12C>T) c.140-12C>T (n.140-12C>T) c.227-12C>T (n.227-12C>T) c.161-12C>T (n.161-12C>T) c.173-12C>T (n.173-12C>T) c.134-12C>T (n.134-12C>T) n.235-12C>T c.-59-12C>T (n.-59-12C>T) n.362-12C>T n.188-12C>T | dbSNP |
22 | g.19919016G>C | CA2655329536 | TXNRD2 | c.230-12C>G (n.230-12C>G) c.140-12C>G (n.140-12C>G) c.227-12C>G (n.227-12C>G) c.161-12C>G (n.161-12C>G) c.173-12C>G (n.173-12C>G) c.134-12C>G (n.134-12C>G) n.235-12C>G c.-59-12C>G (n.-59-12C>G) n.362-12C>G n.188-12C>G | gnomAD v4 |