Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |