Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.19918887T>A | CA410693701 | TXNRD2 | c.347A>T (p.Glu116Val) c.257A>T (p.Glu86Val) c.344A>T (p.Glu115Val) c.278A>T (p.Glu93Val) c.290A>T (p.Glu97Val) c.251A>T (p.Glu84Val) n.352A>T c.59A>T (p.Glu20Val) n.479A>T n.305A>T | |
22 | g.19918887T>C | CA10104260 | TXNRD2 | c.347A>G (p.Glu116Gly) c.257A>G (p.Glu86Gly) c.344A>G (p.Glu115Gly) c.278A>G (p.Glu93Gly) c.290A>G (p.Glu97Gly) c.251A>G (p.Glu84Gly) n.352A>G c.59A>G (p.Glu20Gly) n.479A>G n.305A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.19918887T>G | CA410693703 | TXNRD2 | c.347A>C (p.Glu116Ala) c.257A>C (p.Glu86Ala) c.344A>C (p.Glu115Ala) c.278A>C (p.Glu93Ala) c.290A>C (p.Glu97Ala) c.251A>C (p.Glu84Ala) n.352A>C c.59A>C (p.Glu20Ala) n.479A>C n.305A>C | |
22 | g.19918887T= | CA2396103735 | TXNRD2 | c.347A= (p.Glu116=) c.257A= (p.Glu86=) c.344A= (p.Glu115=) c.278A= (p.Glu93=) c.290A= (p.Glu97=) c.251A= (p.Glu84=) n.352A= c.59A= (p.Glu20=) n.479A= n.305A= | |
22 | g.19918888C>A | CA410693709 | TXNRD2 | c.346G>T (p.Glu116Ter) c.256G>T (p.Glu86Ter) c.343G>T (p.Glu115Ter) c.277G>T (p.Glu93Ter) c.289G>T (p.Glu97Ter) c.250G>T (p.Glu84Ter) n.351G>T c.58G>T (p.Glu20Ter) n.478G>T n.304G>T | |
22 | g.19918888C= | CA2396103736 | TXNRD2 | c.346G= (p.Glu116=) c.256G= (p.Glu86=) c.343G= (p.Glu115=) c.277G= (p.Glu93=) c.289G= (p.Glu97=) c.250G= (p.Glu84=) n.351G= c.58G= (p.Glu20=) n.478G= n.304G= | |
22 | g.19918888C>G | CA410693707 | TXNRD2 | c.346G>C (p.Glu116Gln) c.256G>C (p.Glu86Gln) c.343G>C (p.Glu115Gln) c.277G>C (p.Glu93Gln) c.289G>C (p.Glu97Gln) c.250G>C (p.Glu84Gln) n.351G>C c.58G>C (p.Glu20Gln) n.478G>C n.304G>C | |
22 | g.19918888C>T | CA410693705 | TXNRD2 | c.346G>A (p.Glu116Lys) c.256G>A (p.Glu86Lys) c.343G>A (p.Glu115Lys) c.277G>A (p.Glu93Lys) c.289G>A (p.Glu97Lys) c.250G>A (p.Glu84Lys) n.351G>A c.58G>A (p.Glu20Lys) n.478G>A n.304G>A | dbSNP gnomAD v2 |
22 | g.19918889C>A | CA410693711 | TXNRD2 | c.345G>T (p.Trp115Cys) c.255G>T (p.Trp85Cys) c.342G>T (p.Trp114Cys) c.276G>T (p.Trp92Cys) c.288G>T (p.Trp96Cys) c.249G>T (p.Trp83Cys) n.350G>T c.57G>T (p.Trp19Cys) n.477G>T n.303G>T | |
22 | g.19918889C>G | CA410693712 | TXNRD2 | c.345G>C (p.Trp115Cys) c.255G>C (p.Trp85Cys) c.342G>C (p.Trp114Cys) c.276G>C (p.Trp92Cys) c.288G>C (p.Trp96Cys) c.249G>C (p.Trp83Cys) n.350G>C c.57G>C (p.Trp19Cys) n.477G>C n.303G>C | |
22 | g.19918889C>T | CA410693714 | TXNRD2 | c.345G>A (p.Trp115Ter) c.255G>A (p.Trp85Ter) c.342G>A (p.Trp114Ter) c.276G>A (p.Trp92Ter) c.288G>A (p.Trp96Ter) c.249G>A (p.Trp83Ter) n.350G>A c.57G>A (p.Trp19Ter) n.477G>A n.303G>A | gnomAD v4 |
22 | g.19918890C>A | CA410693716 | TXNRD2 | c.344G>T (p.Trp115Leu) c.254G>T (p.Trp85Leu) c.341G>T (p.Trp114Leu) c.275G>T (p.Trp92Leu) c.287G>T (p.Trp96Leu) c.248G>T (p.Trp83Leu) n.349G>T c.56G>T (p.Trp19Leu) n.476G>T n.302G>T | |
22 | g.19918890C= | CA2396103737 | TXNRD2 | c.344G= (p.Trp115=) c.254G= (p.Trp85=) c.341G= (p.Trp114=) c.275G= (p.Trp92=) c.287G= (p.Trp96=) c.248G= (p.Trp83=) n.349G= c.56G= (p.Trp19=) n.476G= n.302G= | |
22 | g.19918890C>G | CA410693718 | TXNRD2 | c.344G>C (p.Trp115Ser) c.254G>C (p.Trp85Ser) c.341G>C (p.Trp114Ser) c.275G>C (p.Trp92Ser) c.287G>C (p.Trp96Ser) c.248G>C (p.Trp83Ser) n.349G>C c.56G>C (p.Trp19Ser) n.476G>C n.302G>C | |
22 | g.19918890C>T | CA410693720 | TXNRD2 | c.344G>A (p.Trp115Ter) c.254G>A (p.Trp85Ter) c.341G>A (p.Trp114Ter) c.275G>A (p.Trp92Ter) c.287G>A (p.Trp96Ter) c.248G>A (p.Trp83Ter) n.349G>A c.56G>A (p.Trp19Ter) n.476G>A n.302G>A | dbSNP gnomAD v2 gnomAD v4 |
22 | g.19918891A>C | CA410693721 | TXNRD2 | c.343T>G (p.Trp115Gly) c.253T>G (p.Trp85Gly) c.340T>G (p.Trp114Gly) c.274T>G (p.Trp92Gly) c.286T>G (p.Trp96Gly) c.247T>G (p.Trp83Gly) n.348T>G c.55T>G (p.Trp19Gly) n.475T>G n.301T>G | |
22 | g.19918891A>G | CA410693722 | TXNRD2 | c.343T>C (p.Trp115Arg) c.253T>C (p.Trp85Arg) c.340T>C (p.Trp114Arg) c.274T>C (p.Trp92Arg) c.286T>C (p.Trp96Arg) c.247T>C (p.Trp83Arg) n.348T>C c.55T>C (p.Trp19Arg) n.475T>C n.301T>C | |
22 | g.19918891A>T | CA410693724 | TXNRD2 | c.343T>A (p.Trp115Arg) c.253T>A (p.Trp85Arg) c.340T>A (p.Trp114Arg) c.274T>A (p.Trp92Arg) c.286T>A (p.Trp96Arg) c.247T>A (p.Trp83Arg) n.348T>A c.55T>A (p.Trp19Arg) n.475T>A n.301T>A | |
22 | g.19918891dup | CA2655329350 | TXNRD2 | c.343dup (p.Trp115LeufsTer10) c.253dup (p.Trp85LeufsTer10) c.340dup (p.Trp114LeufsTer10) c.274dup (p.Trp92LeufsTer10) c.286dup (p.Trp96LeufsTer10) c.247dup (p.Trp83LeufsTer10) n.348dup c.55dup (p.Trp19LeufsTer10) n.475dup n.301dup | gnomAD v4 |
22 | g.19918892G>A | CA513369054 | TXNRD2 | c.342C>T (p.Gly114=) c.252C>T (p.Gly84=) c.339C>T (p.Gly113=) c.273C>T (p.Gly91=) c.285C>T (p.Gly95=) c.246C>T (p.Gly82=) n.347C>T c.54C>T (p.Gly18=) n.474C>T n.300C>T | gnomAD v4 |
22 | g.19918892G>C | CA513369053 | TXNRD2 | c.342C>G (p.Gly114=) c.252C>G (p.Gly84=) c.339C>G (p.Gly113=) c.273C>G (p.Gly91=) c.285C>G (p.Gly95=) c.246C>G (p.Gly82=) n.347C>G c.54C>G (p.Gly18=) n.474C>G n.300C>G | |
22 | g.19918892G>T | CA513369052 | TXNRD2 | c.342C>A (p.Gly114=) c.252C>A (p.Gly84=) c.339C>A (p.Gly113=) c.273C>A (p.Gly91=) c.285C>A (p.Gly95=) c.246C>A (p.Gly82=) n.347C>A c.54C>A (p.Gly18=) n.474C>A n.300C>A | gnomAD v4 |
22 | g.19918893C>A | CA410693726 | TXNRD2 | c.341G>T (p.Gly114Val) c.251G>T (p.Gly84Val) c.338G>T (p.Gly113Val) c.272G>T (p.Gly91Val) c.284G>T (p.Gly95Val) c.245G>T (p.Gly82Val) n.346G>T c.53G>T (p.Gly18Val) n.473G>T n.299G>T | |
22 | g.19918893C>G | CA410693728 | TXNRD2 | c.341G>C (p.Gly114Ala) c.251G>C (p.Gly84Ala) c.338G>C (p.Gly113Ala) c.272G>C (p.Gly91Ala) c.284G>C (p.Gly95Ala) c.245G>C (p.Gly82Ala) n.346G>C c.53G>C (p.Gly18Ala) n.473G>C n.299G>C | |
22 | g.19918893C>T | CA410693729 | TXNRD2 | c.341G>A (p.Gly114Asp) c.251G>A (p.Gly84Asp) c.338G>A (p.Gly113Asp) c.272G>A (p.Gly91Asp) c.284G>A (p.Gly95Asp) c.245G>A (p.Gly82Asp) n.346G>A c.53G>A (p.Gly18Asp) n.473G>A n.299G>A | gnomAD v4 |
22 | g.19918894C>A | CA410693735 | TXNRD2 | c.340G>T (p.Gly114Cys) c.250G>T (p.Gly84Cys) c.337G>T (p.Gly113Cys) c.271G>T (p.Gly91Cys) c.283G>T (p.Gly95Cys) c.244G>T (p.Gly82Cys) n.345G>T c.52G>T (p.Gly18Cys) n.472G>T n.298G>T | |
22 | g.19918894C>G | CA410693733 | TXNRD2 | c.340G>C (p.Gly114Arg) c.250G>C (p.Gly84Arg) c.337G>C (p.Gly113Arg) c.271G>C (p.Gly91Arg) c.283G>C (p.Gly95Arg) c.244G>C (p.Gly82Arg) n.345G>C c.52G>C (p.Gly18Arg) n.472G>C n.298G>C | |
22 | g.19918894C>T | CA410693732 | TXNRD2 | c.340G>A (p.Gly114Ser) c.250G>A (p.Gly84Ser) c.337G>A (p.Gly113Ser) c.271G>A (p.Gly91Ser) c.283G>A (p.Gly95Ser) c.244G>A (p.Gly82Ser) n.345G>A c.52G>A (p.Gly18Ser) n.472G>A n.298G>A | |
22 | g.19918895A>C | CA410693737 | TXNRD2 | c.339T>G (p.Tyr113Ter) c.249T>G (p.Tyr83Ter) c.336T>G (p.Tyr112Ter) c.270T>G (p.Tyr90Ter) c.282T>G (p.Tyr94Ter) c.243T>G (p.Tyr81Ter) n.344T>G c.51T>G (p.Tyr17Ter) n.471T>G n.297T>G | |
22 | g.19918895A>G | CA513369055 | TXNRD2 | c.339T>C (p.Tyr113=) c.249T>C (p.Tyr83=) c.336T>C (p.Tyr112=) c.270T>C (p.Tyr90=) c.282T>C (p.Tyr94=) c.243T>C (p.Tyr81=) n.344T>C c.51T>C (p.Tyr17=) n.471T>C n.297T>C | |
22 | g.19918895A>T | CA410693738 | TXNRD2 | c.339T>A (p.Tyr113Ter) c.249T>A (p.Tyr83Ter) c.336T>A (p.Tyr112Ter) c.270T>A (p.Tyr90Ter) c.282T>A (p.Tyr94Ter) c.243T>A (p.Tyr81Ter) n.344T>A c.51T>A (p.Tyr17Ter) n.471T>A n.297T>A | |
22 | g.19918896T>A | CA410693740 | TXNRD2 | c.338A>T (p.Tyr113Phe) c.248A>T (p.Tyr83Phe) c.335A>T (p.Tyr112Phe) c.269A>T (p.Tyr90Phe) c.281A>T (p.Tyr94Phe) c.242A>T (p.Tyr81Phe) n.343A>T c.50A>T (p.Tyr17Phe) n.470A>T n.296A>T | |
22 | g.19918896T>C | CA410693741 | TXNRD2 | c.338A>G (p.Tyr113Cys) c.248A>G (p.Tyr83Cys) c.335A>G (p.Tyr112Cys) c.269A>G (p.Tyr90Cys) c.281A>G (p.Tyr94Cys) c.242A>G (p.Tyr81Cys) n.343A>G c.50A>G (p.Tyr17Cys) n.470A>G n.296A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918896T>G | CA322105574 | TXNRD2 | c.338A>C (p.Tyr113Ser) c.248A>C (p.Tyr83Ser) c.335A>C (p.Tyr112Ser) c.269A>C (p.Tyr90Ser) c.281A>C (p.Tyr94Ser) c.242A>C (p.Tyr81Ser) n.343A>C c.50A>C (p.Tyr17Ser) n.470A>C n.296A>C | dbSNP gnomAD v2 gnomAD v4 |
22 | g.19918896T= | CA2396103738 | TXNRD2 | c.338A= (p.Tyr113=) c.248A= (p.Tyr83=) c.335A= (p.Tyr112=) c.269A= (p.Tyr90=) c.281A= (p.Tyr94=) c.242A= (p.Tyr81=) n.343A= c.50A= (p.Tyr17=) n.470A= n.296A= | |
22 | g.19918897A= | CA2396103739 | TXNRD2 | c.337T= (p.Tyr113=) c.247T= (p.Tyr83=) c.334T= (p.Tyr112=) c.268T= (p.Tyr90=) c.280T= (p.Tyr94=) c.241T= (p.Tyr81=) n.342T= c.49T= (p.Tyr17=) n.469T= n.295T= | |
22 | g.19918897A>C | CA410693743 | TXNRD2 | c.337T>G (p.Tyr113Asp) c.247T>G (p.Tyr83Asp) c.334T>G (p.Tyr112Asp) c.268T>G (p.Tyr90Asp) c.280T>G (p.Tyr94Asp) c.241T>G (p.Tyr81Asp) n.342T>G c.49T>G (p.Tyr17Asp) n.469T>G n.295T>G | |
22 | g.19918897A>G | CA351852 | TXNRD2 | c.337T>C (p.Tyr113His) c.247T>C (p.Tyr83His) c.334T>C (p.Tyr112His) c.268T>C (p.Tyr90His) c.280T>C (p.Tyr94His) c.241T>C (p.Tyr81His) n.342T>C c.49T>C (p.Tyr17His) n.469T>C n.295T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.19918897A>T | CA410693745 | TXNRD2 | c.337T>A (p.Tyr113Asn) c.247T>A (p.Tyr83Asn) c.334T>A (p.Tyr112Asn) c.268T>A (p.Tyr90Asn) c.280T>A (p.Tyr94Asn) c.241T>A (p.Tyr81Asn) n.342T>A c.49T>A (p.Tyr17Asn) n.469T>A n.295T>A | |
22 | g.19918898del | CA2655329351 | TXNRD2 | c.336del (p.Tyr113MetfsTer24) c.246del (p.Tyr83MetfsTer24) c.333del (p.Tyr112MetfsTer24) c.267del (p.Tyr90MetfsTer24) c.279del (p.Tyr94MetfsTer24) c.240del (p.Tyr81MetfsTer24) n.341del c.48del (p.Tyr17MetfsTer24) n.468del n.294del | gnomAD v4 |
22 | g.19918898G>A | CA513369056 | TXNRD2 | c.336C>T (p.Asn112=) c.246C>T (p.Asn82=) c.333C>T (p.Asn111=) c.267C>T (p.Asn89=) c.279C>T (p.Asn93=) c.240C>T (p.Asn80=) n.341C>T c.48C>T (p.Asn16=) n.468C>T n.294C>T | |
22 | g.19918898G>C | CA410693747 | TXNRD2 | c.336C>G (p.Asn112Lys) c.246C>G (p.Asn82Lys) c.333C>G (p.Asn111Lys) c.267C>G (p.Asn89Lys) c.279C>G (p.Asn93Lys) c.240C>G (p.Asn80Lys) n.341C>G c.48C>G (p.Asn16Lys) n.468C>G n.294C>G | |
22 | g.19918898G= | CA2396103740 | TXNRD2 | c.336C= (p.Asn112=) c.246C= (p.Asn82=) c.333C= (p.Asn111=) c.267C= (p.Asn89=) c.279C= (p.Asn93=) c.240C= (p.Asn80=) n.341C= c.48C= (p.Asn16=) n.468C= n.294C= | |
22 | g.19918898G>T | CA410693749 | TXNRD2 | c.336C>A (p.Asn112Lys) c.246C>A (p.Asn82Lys) c.333C>A (p.Asn111Lys) c.267C>A (p.Asn89Lys) c.279C>A (p.Asn93Lys) c.240C>A (p.Asn80Lys) n.341C>A c.48C>A (p.Asn16Lys) n.468C>A n.294C>A | dbSNP gnomAD v3 gnomAD v4 |
22 | g.19918899T>A | CA410693750 | TXNRD2 | c.335A>T (p.Asn112Ile) c.245A>T (p.Asn82Ile) c.332A>T (p.Asn111Ile) c.266A>T (p.Asn89Ile) c.278A>T (p.Asn93Ile) c.239A>T (p.Asn80Ile) n.340A>T c.47A>T (p.Asn16Ile) n.467A>T n.293A>T | ClinVar dbSNP |
22 | g.19918899T>C | CA10104261 | TXNRD2 | c.335A>G (p.Asn112Ser) c.245A>G (p.Asn82Ser) c.332A>G (p.Asn111Ser) c.266A>G (p.Asn89Ser) c.278A>G (p.Asn93Ser) c.239A>G (p.Asn80Ser) n.340A>G c.47A>G (p.Asn16Ser) n.467A>G n.293A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.19918899T>G | CA410693752 | TXNRD2 | c.335A>C (p.Asn112Thr) c.245A>C (p.Asn82Thr) c.332A>C (p.Asn111Thr) c.266A>C (p.Asn89Thr) c.278A>C (p.Asn93Thr) c.239A>C (p.Asn80Thr) n.340A>C c.47A>C (p.Asn16Thr) n.467A>C n.293A>C | dbSNP |
22 | g.19918899T= | CA2396103741 | TXNRD2 | c.335A= (p.Asn112=) c.245A= (p.Asn82=) c.332A= (p.Asn111=) c.266A= (p.Asn89=) c.278A= (p.Asn93=) c.239A= (p.Asn80=) n.340A= c.47A= (p.Asn16=) n.467A= n.293A= | |
22 | g.19918900T>A | CA410693756 | TXNRD2 | c.334A>T (p.Asn112Tyr) c.244A>T (p.Asn82Tyr) c.331A>T (p.Asn111Tyr) c.265A>T (p.Asn89Tyr) c.277A>T (p.Asn93Tyr) c.238A>T (p.Asn80Tyr) n.339A>T c.46A>T (p.Asn16Tyr) n.466A>T n.292A>T | |
22 | g.19918900T>C | CA322105575 | TXNRD2 | c.334A>G (p.Asn112Asp) c.244A>G (p.Asn82Asp) c.331A>G (p.Asn111Asp) c.265A>G (p.Asn89Asp) c.277A>G (p.Asn93Asp) c.238A>G (p.Asn80Asp) n.339A>G c.46A>G (p.Asn16Asp) n.466A>G n.292A>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.19918900T>G | CA410693754 | TXNRD2 | c.334A>C (p.Asn112His) c.244A>C (p.Asn82His) c.331A>C (p.Asn111His) c.265A>C (p.Asn89His) c.277A>C (p.Asn93His) c.238A>C (p.Asn80His) n.339A>C c.46A>C (p.Asn16His) n.466A>C n.292A>C | |
22 | g.19918900T= | CA2396103742 | TXNRD2 | c.334A= (p.Asn112=) c.244A= (p.Asn82=) c.331A= (p.Asn111=) c.265A= (p.Asn89=) c.277A= (p.Asn93=) c.238A= (p.Asn80=) n.339A= c.46A= (p.Asn16=) n.466A= n.292A= | |
22 | g.19918901G>A | CA513369059 | TXNRD2 | c.333C>T (p.Pro111=) c.243C>T (p.Pro81=) c.330C>T (p.Pro110=) c.264C>T (p.Pro88=) c.276C>T (p.Pro92=) c.237C>T (p.Pro79=) n.338C>T c.45C>T (p.Pro15=) n.465C>T n.291C>T | dbSNP gnomAD v2 |
22 | g.19918901G>C | CA513369058 | TXNRD2 | c.333C>G (p.Pro111=) c.243C>G (p.Pro81=) c.330C>G (p.Pro110=) c.264C>G (p.Pro88=) c.276C>G (p.Pro92=) c.237C>G (p.Pro79=) n.338C>G c.45C>G (p.Pro15=) n.465C>G n.291C>G | |
22 | g.19918901G= | CA2396103743 | TXNRD2 | c.333C= (p.Pro111=) c.243C= (p.Pro81=) c.330C= (p.Pro110=) c.264C= (p.Pro88=) c.276C= (p.Pro92=) c.237C= (p.Pro79=) n.338C= c.45C= (p.Pro15=) n.465C= n.291C= | |
22 | g.19918901G>T | CA513369057 | TXNRD2 | c.333C>A (p.Pro111=) c.243C>A (p.Pro81=) c.330C>A (p.Pro110=) c.264C>A (p.Pro88=) c.276C>A (p.Pro92=) c.237C>A (p.Pro79=) n.338C>A c.45C>A (p.Pro15=) n.465C>A n.291C>A | gnomAD v4 |
22 | g.19918905del | CA2655329353 | TXNRD2 | c.333del (p.Asn112ThrfsTer25) c.243del (p.Asn82ThrfsTer25) c.330del (p.Asn111ThrfsTer25) c.264del (p.Asn89ThrfsTer25) c.276del (p.Asn93ThrfsTer25) c.237del (p.Asn80ThrfsTer25) n.338del c.45del (p.Asn16ThrfsTer25) n.465del n.291del | gnomAD v4 |
22 | g.19918903_19918905del | CA2655329354 | TXNRD2 | c.331_333del (p.Pro111del) c.241_243del (p.Pro81del) c.328_330del (p.Pro110del) c.262_264del (p.Pro88del) c.274_276del (p.Pro92del) c.235_237del (p.Pro79del) n.336_338del c.43_45del (p.Pro15del) n.463_465del n.289_291del | gnomAD v4 |
22 | g.19918902G>A | CA410693758 | TXNRD2 | c.332C>T (p.Pro111Leu) c.242C>T (p.Pro81Leu) c.329C>T (p.Pro110Leu) c.263C>T (p.Pro88Leu) c.275C>T (p.Pro92Leu) c.236C>T (p.Pro79Leu) n.337C>T c.44C>T (p.Pro15Leu) n.464C>T n.290C>T | gnomAD v4 |
22 | g.19918902G>C | CA410693759 | TXNRD2 | c.332C>G (p.Pro111Arg) c.242C>G (p.Pro81Arg) c.329C>G (p.Pro110Arg) c.263C>G (p.Pro88Arg) c.275C>G (p.Pro92Arg) c.236C>G (p.Pro79Arg) n.337C>G c.44C>G (p.Pro15Arg) n.464C>G n.290C>G | |
22 | g.19918902G>T | CA410693760 | TXNRD2 | c.332C>A (p.Pro111His) c.242C>A (p.Pro81His) c.329C>A (p.Pro110His) c.263C>A (p.Pro88His) c.275C>A (p.Pro92His) c.236C>A (p.Pro79His) n.337C>A c.44C>A (p.Pro15His) n.464C>A n.290C>A | |
22 | g.19918903G>A | CA410693762 | TXNRD2 | c.331C>T (p.Pro111Ser) c.241C>T (p.Pro81Ser) c.328C>T (p.Pro110Ser) c.262C>T (p.Pro88Ser) c.274C>T (p.Pro92Ser) c.235C>T (p.Pro79Ser) n.336C>T c.43C>T (p.Pro15Ser) n.463C>T n.289C>T | gnomAD v4 |
22 | g.19918903G>C | CA410693764 | TXNRD2 | c.331C>G (p.Pro111Ala) c.241C>G (p.Pro81Ala) c.328C>G (p.Pro110Ala) c.262C>G (p.Pro88Ala) c.274C>G (p.Pro92Ala) c.235C>G (p.Pro79Ala) n.336C>G c.43C>G (p.Pro15Ala) n.463C>G n.289C>G | |
22 | g.19918903G>T | CA410693765 | TXNRD2 | c.331C>A (p.Pro111Thr) c.241C>A (p.Pro81Thr) c.328C>A (p.Pro110Thr) c.262C>A (p.Pro88Thr) c.274C>A (p.Pro92Thr) c.235C>A (p.Pro79Thr) n.336C>A c.43C>A (p.Pro15Thr) n.463C>A n.289C>A | gnomAD v4 |
22 | g.19918904G>A | CA513369062 | TXNRD2 | c.330C>T (p.Ala110=) c.240C>T (p.Ala80=) c.327C>T (p.Ala109=) c.261C>T (p.Ala87=) c.273C>T (p.Ala91=) c.234C>T (p.Ala78=) n.335C>T c.42C>T (p.Ala14=) n.462C>T n.288C>T | |
22 | g.19918904G>C | CA513369061 | TXNRD2 | c.330C>G (p.Ala110=) c.240C>G (p.Ala80=) c.327C>G (p.Ala109=) c.261C>G (p.Ala87=) c.273C>G (p.Ala91=) c.234C>G (p.Ala78=) n.335C>G c.42C>G (p.Ala14=) n.462C>G n.288C>G | |
22 | g.19918904G>T | CA513369060 | TXNRD2 | c.330C>A (p.Ala110=) c.240C>A (p.Ala80=) c.327C>A (p.Ala109=) c.261C>A (p.Ala87=) c.273C>A (p.Ala91=) c.234C>A (p.Ala78=) n.335C>A c.42C>A (p.Ala14=) n.462C>A n.288C>A | gnomAD v4 |
22 | g.19918905G>A | CA410693767 | TXNRD2 | c.329C>T (p.Ala110Val) c.239C>T (p.Ala80Val) c.326C>T (p.Ala109Val) c.260C>T (p.Ala87Val) c.272C>T (p.Ala91Val) c.233C>T (p.Ala78Val) n.334C>T c.41C>T (p.Ala14Val) n.461C>T n.287C>T | gnomAD v4 |
22 | g.19918905G>C | CA410693769 | TXNRD2 | c.329C>G (p.Ala110Gly) c.239C>G (p.Ala80Gly) c.326C>G (p.Ala109Gly) c.260C>G (p.Ala87Gly) c.272C>G (p.Ala91Gly) c.233C>G (p.Ala78Gly) n.334C>G c.41C>G (p.Ala14Gly) n.461C>G n.287C>G | |
22 | g.19918905G>T | CA410693770 | TXNRD2 | c.329C>A (p.Ala110Asp) c.239C>A (p.Ala80Asp) c.326C>A (p.Ala109Asp) c.260C>A (p.Ala87Asp) c.272C>A (p.Ala91Asp) c.233C>A (p.Ala78Asp) n.334C>A c.41C>A (p.Ala14Asp) n.461C>A n.287C>A | gnomAD v4 |
22 | g.19918906C>A | CA410693772 | TXNRD2 | c.328G>T (p.Ala110Ser) c.238G>T (p.Ala80Ser) c.325G>T (p.Ala109Ser) c.259G>T (p.Ala87Ser) c.271G>T (p.Ala91Ser) c.232G>T (p.Ala78Ser) n.333G>T c.40G>T (p.Ala14Ser) n.460G>T n.286G>T | gnomAD v4 |
22 | g.19918906C>G | CA410693773 | TXNRD2 | c.328G>C (p.Ala110Pro) c.238G>C (p.Ala80Pro) c.325G>C (p.Ala109Pro) c.259G>C (p.Ala87Pro) c.271G>C (p.Ala91Pro) c.232G>C (p.Ala78Pro) n.333G>C c.40G>C (p.Ala14Pro) n.460G>C n.286G>C | |
22 | g.19918906C>T | CA410693775 | TXNRD2 | c.328G>A (p.Ala110Thr) c.238G>A (p.Ala80Thr) c.325G>A (p.Ala109Thr) c.259G>A (p.Ala87Thr) c.271G>A (p.Ala91Thr) c.232G>A (p.Ala78Thr) n.333G>A c.40G>A (p.Ala14Thr) n.460G>A n.286G>A | gnomAD v4 |
22 | g.19918907A>C | CA410693778 | TXNRD2 | c.327T>G (p.Asp109Glu) c.237T>G (p.Asp79Glu) c.324T>G (p.Asp108Glu) c.258T>G (p.Asp86Glu) c.270T>G (p.Asp90Glu) c.231T>G (p.Asp77Glu) n.332T>G c.39T>G (p.Asp13Glu) n.459T>G n.285T>G | |
22 | g.19918907A>G | CA513369063 | TXNRD2 | c.327T>C (p.Asp109=) c.237T>C (p.Asp79=) c.324T>C (p.Asp108=) c.258T>C (p.Asp86=) c.270T>C (p.Asp90=) c.231T>C (p.Asp77=) n.332T>C c.39T>C (p.Asp13=) n.459T>C n.285T>C | |
22 | g.19918907A>T | CA410693777 | TXNRD2 | c.327T>A (p.Asp109Glu) c.237T>A (p.Asp79Glu) c.324T>A (p.Asp108Glu) c.258T>A (p.Asp86Glu) c.270T>A (p.Asp90Glu) c.231T>A (p.Asp77Glu) n.332T>A c.39T>A (p.Asp13Glu) n.459T>A n.285T>A | |
22 | g.19918908T>A | CA410693780 | TXNRD2 | c.326A>T (p.Asp109Val) c.236A>T (p.Asp79Val) c.323A>T (p.Asp108Val) c.257A>T (p.Asp86Val) c.269A>T (p.Asp90Val) c.230A>T (p.Asp77Val) n.331A>T c.38A>T (p.Asp13Val) n.458A>T n.284A>T | |
22 | g.19918908T>C | CA410693782 | TXNRD2 | c.326A>G (p.Asp109Gly) c.236A>G (p.Asp79Gly) c.323A>G (p.Asp108Gly) c.257A>G (p.Asp86Gly) c.269A>G (p.Asp90Gly) c.230A>G (p.Asp77Gly) n.331A>G c.38A>G (p.Asp13Gly) n.458A>G n.284A>G | |
22 | g.19918908T>G | CA410693781 | TXNRD2 | c.326A>C (p.Asp109Ala) c.236A>C (p.Asp79Ala) c.323A>C (p.Asp108Ala) c.257A>C (p.Asp86Ala) c.269A>C (p.Asp90Ala) c.230A>C (p.Asp77Ala) n.331A>C c.38A>C (p.Asp13Ala) n.458A>C n.284A>C | |
22 | g.19918909C>A | CA410693784 | TXNRD2 | c.325G>T (p.Asp109Tyr) c.235G>T (p.Asp79Tyr) c.322G>T (p.Asp108Tyr) c.256G>T (p.Asp86Tyr) c.268G>T (p.Asp90Tyr) c.229G>T (p.Asp77Tyr) n.330G>T c.37G>T (p.Asp13Tyr) n.457G>T n.283G>T | |
22 | g.19918909C= | CA2396103744 | TXNRD2 | c.325G= (p.Asp109=) c.235G= (p.Asp79=) c.322G= (p.Asp108=) c.256G= (p.Asp86=) c.268G= (p.Asp90=) c.229G= (p.Asp77=) n.330G= c.37G= (p.Asp13=) n.457G= n.283G= | |
22 | g.19918909C>G | CA410693787 | TXNRD2 | c.325G>C (p.Asp109His) c.235G>C (p.Asp79His) c.322G>C (p.Asp108His) c.256G>C (p.Asp86His) c.268G>C (p.Asp90His) c.229G>C (p.Asp77His) n.330G>C c.37G>C (p.Asp13His) n.457G>C n.283G>C | |
22 | g.19918909C>T | CA410693785 | TXNRD2 | c.325G>A (p.Asp109Asn) c.235G>A (p.Asp79Asn) c.322G>A (p.Asp108Asn) c.256G>A (p.Asp86Asn) c.268G>A (p.Asp90Asn) c.229G>A (p.Asp77Asn) n.330G>A c.37G>A (p.Asp13Asn) n.457G>A n.283G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19918910T>A | CA410693789 | TXNRD2 | c.324A>T (p.Gln108His) c.234A>T (p.Gln78His) c.321A>T (p.Gln107His) c.255A>T (p.Gln85His) c.267A>T (p.Gln89His) c.228A>T (p.Gln76His) n.329A>T c.36A>T (p.Gln12His) n.456A>T n.282A>T | |
22 | g.19918910T>C | CA513369064 | TXNRD2 | c.324A>G (p.Gln108=) c.234A>G (p.Gln78=) c.321A>G (p.Gln107=) c.255A>G (p.Gln85=) c.267A>G (p.Gln89=) c.228A>G (p.Gln76=) n.329A>G c.36A>G (p.Gln12=) n.456A>G n.282A>G | dbSNP gnomAD v4 |
22 | g.19918910T>G | CA410693791 | TXNRD2 | c.324A>C (p.Gln108His) c.234A>C (p.Gln78His) c.321A>C (p.Gln107His) c.255A>C (p.Gln85His) c.267A>C (p.Gln89His) c.228A>C (p.Gln76His) n.329A>C c.36A>C (p.Gln12His) n.456A>C n.282A>C | |
22 | g.19918910T= | CA2396103745 | TXNRD2 | c.324A= (p.Gln108=) c.234A= (p.Gln78=) c.321A= (p.Gln107=) c.255A= (p.Gln85=) c.267A= (p.Gln89=) c.228A= (p.Gln76=) n.329A= c.36A= (p.Gln12=) n.456A= n.282A= | |
22 | g.19918911T>A | CA410693792 | TXNRD2 | c.323A>T (p.Gln108Leu) c.233A>T (p.Gln78Leu) c.320A>T (p.Gln107Leu) c.254A>T (p.Gln85Leu) c.266A>T (p.Gln89Leu) c.227A>T (p.Gln76Leu) n.328A>T c.35A>T (p.Gln12Leu) n.455A>T n.281A>T | |
22 | g.19918911T>C | CA410693793 | TXNRD2 | c.323A>G (p.Gln108Arg) c.233A>G (p.Gln78Arg) c.320A>G (p.Gln107Arg) c.254A>G (p.Gln85Arg) c.266A>G (p.Gln89Arg) c.227A>G (p.Gln76Arg) n.328A>G c.35A>G (p.Gln12Arg) n.455A>G n.281A>G | dbSNP gnomAD v4 |
22 | g.19918911T>G | CA410693795 | TXNRD2 | c.323A>C (p.Gln108Pro) c.233A>C (p.Gln78Pro) c.320A>C (p.Gln107Pro) c.254A>C (p.Gln85Pro) c.266A>C (p.Gln89Pro) c.227A>C (p.Gln76Pro) n.328A>C c.35A>C (p.Gln12Pro) n.455A>C n.281A>C | |
22 | g.19918911T= | CA2396103746 | TXNRD2 | c.323A= (p.Gln108=) c.233A= (p.Gln78=) c.320A= (p.Gln107=) c.254A= (p.Gln85=) c.266A= (p.Gln89=) c.227A= (p.Gln76=) n.328A= c.35A= (p.Gln12=) n.455A= n.281A= | |
22 | g.19918912G>A | CA410693797 | TXNRD2 | c.322C>T (p.Gln108Ter) c.232C>T (p.Gln78Ter) c.319C>T (p.Gln107Ter) c.253C>T (p.Gln85Ter) c.265C>T (p.Gln89Ter) c.226C>T (p.Gln76Ter) n.327C>T c.34C>T (p.Gln12Ter) n.454C>T n.280C>T | |
22 | g.19918912G>C | CA410693798 | TXNRD2 | c.322C>G (p.Gln108Glu) c.232C>G (p.Gln78Glu) c.319C>G (p.Gln107Glu) c.253C>G (p.Gln85Glu) c.265C>G (p.Gln89Glu) c.226C>G (p.Gln76Glu) n.327C>G c.34C>G (p.Gln12Glu) n.454C>G n.280C>G | |
22 | g.19918912G>T | CA410693800 | TXNRD2 | c.322C>A (p.Gln108Lys) c.232C>A (p.Gln78Lys) c.319C>A (p.Gln107Lys) c.253C>A (p.Gln85Lys) c.265C>A (p.Gln89Lys) c.226C>A (p.Gln76Lys) n.327C>A c.34C>A (p.Gln12Lys) n.454C>A n.280C>A | gnomAD v4 |
22 | g.19918913G>A | CA513369066 | TXNRD2 | c.321C>T (p.Ile107=) c.231C>T (p.Ile77=) c.318C>T (p.Ile106=) c.252C>T (p.Ile84=) c.264C>T (p.Ile88=) c.225C>T (p.Ile75=) n.326C>T c.33C>T (p.Ile11=) n.453C>T n.279C>T | COSMIC COSMIC |
22 | g.19918913G>C | CA410693802 | TXNRD2 | c.321C>G (p.Ile107Met) c.231C>G (p.Ile77Met) c.318C>G (p.Ile106Met) c.252C>G (p.Ile84Met) c.264C>G (p.Ile88Met) c.225C>G (p.Ile75Met) n.326C>G c.33C>G (p.Ile11Met) n.453C>G n.279C>G | |
22 | g.19918913G>T | CA513369065 | TXNRD2 | c.321C>A (p.Ile107=) c.231C>A (p.Ile77=) c.318C>A (p.Ile106=) c.252C>A (p.Ile84=) c.264C>A (p.Ile88=) c.225C>A (p.Ile75=) n.326C>A c.33C>A (p.Ile11=) n.453C>A n.279C>A | |
22 | g.19918914A>C | CA410693804 | TXNRD2 | c.320T>G (p.Ile107Ser) c.230T>G (p.Ile77Ser) c.317T>G (p.Ile106Ser) c.251T>G (p.Ile84Ser) c.263T>G (p.Ile88Ser) c.224T>G (p.Ile75Ser) n.325T>G c.32T>G (p.Ile11Ser) n.452T>G n.278T>G | |
22 | g.19918914A>G | CA410693806 | TXNRD2 | c.320T>C (p.Ile107Thr) c.230T>C (p.Ile77Thr) c.317T>C (p.Ile106Thr) c.251T>C (p.Ile84Thr) c.263T>C (p.Ile88Thr) c.224T>C (p.Ile75Thr) n.325T>C c.32T>C (p.Ile11Thr) n.452T>C n.278T>C | |
22 | g.19918914A>T | CA410693807 | TXNRD2 | c.320T>A (p.Ile107Asn) c.230T>A (p.Ile77Asn) c.317T>A (p.Ile106Asn) c.251T>A (p.Ile84Asn) c.263T>A (p.Ile88Asn) c.224T>A (p.Ile75Asn) n.325T>A c.32T>A (p.Ile11Asn) n.452T>A n.278T>A | gnomAD v4 |
22 | g.19918915T>A | CA410693809 | TXNRD2 | c.319A>T (p.Ile107Phe) c.229A>T (p.Ile77Phe) c.316A>T (p.Ile106Phe) c.250A>T (p.Ile84Phe) c.262A>T (p.Ile88Phe) c.223A>T (p.Ile75Phe) n.324A>T c.31A>T (p.Ile11Phe) n.451A>T n.277A>T | |
22 | g.19918915T>C | CA410693810 | TXNRD2 | c.319A>G (p.Ile107Val) c.229A>G (p.Ile77Val) c.316A>G (p.Ile106Val) c.250A>G (p.Ile84Val) c.262A>G (p.Ile88Val) c.223A>G (p.Ile75Val) n.324A>G c.31A>G (p.Ile11Val) n.451A>G n.277A>G | gnomAD v4 |
22 | g.19918915T>G | CA410693812 | TXNRD2 | c.319A>C (p.Ile107Leu) c.229A>C (p.Ile77Leu) c.316A>C (p.Ile106Leu) c.250A>C (p.Ile84Leu) c.262A>C (p.Ile88Leu) c.223A>C (p.Ile75Leu) n.324A>C c.31A>C (p.Ile11Leu) n.451A>C n.277A>C | |
22 | g.19918916C>A | CA513369068 | TXNRD2 | c.318G>T (p.Leu106=) c.228G>T (p.Leu76=) c.315G>T (p.Leu105=) c.249G>T (p.Leu83=) c.261G>T (p.Leu87=) c.222G>T (p.Leu74=) n.323G>T c.30G>T (p.Leu10=) n.450G>T n.276G>T | dbSNP gnomAD v2 gnomAD v4 |
22 | g.19918916C= | CA2396103747 | TXNRD2 | c.318G= (p.Leu106=) c.228G= (p.Leu76=) c.315G= (p.Leu105=) c.249G= (p.Leu83=) c.261G= (p.Leu87=) c.222G= (p.Leu74=) n.323G= c.30G= (p.Leu10=) n.450G= n.276G= | |
22 | g.19918916C>G | CA513369067 | TXNRD2 | c.318G>C (p.Leu106=) c.228G>C (p.Leu76=) c.315G>C (p.Leu105=) c.249G>C (p.Leu83=) c.261G>C (p.Leu87=) c.222G>C (p.Leu74=) n.323G>C c.30G>C (p.Leu10=) n.450G>C n.276G>C | |
22 | g.19918916C>T | CA10104262 | TXNRD2 | c.318G>A (p.Leu106=) c.228G>A (p.Leu76=) c.315G>A (p.Leu105=) c.249G>A (p.Leu83=) c.261G>A (p.Leu87=) c.222G>A (p.Leu74=) n.323G>A c.30G>A (p.Leu10=) n.450G>A n.276G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.19918917A>C | CA410693814 | TXNRD2 | c.317T>G (p.Leu106Arg) c.227T>G (p.Leu76Arg) c.314T>G (p.Leu105Arg) c.248T>G (p.Leu83Arg) c.260T>G (p.Leu87Arg) c.221T>G (p.Leu74Arg) n.322T>G c.29T>G (p.Leu10Arg) n.449T>G n.275T>G | |
22 | g.19918917A>G | CA410693816 | TXNRD2 | c.317T>C (p.Leu106Pro) c.227T>C (p.Leu76Pro) c.314T>C (p.Leu105Pro) c.248T>C (p.Leu83Pro) c.260T>C (p.Leu87Pro) c.221T>C (p.Leu74Pro) n.322T>C c.29T>C (p.Leu10Pro) n.449T>C n.275T>C | |
22 | g.19918917A>T | CA410693818 | TXNRD2 | c.317T>A (p.Leu106Gln) c.227T>A (p.Leu76Gln) c.314T>A (p.Leu105Gln) c.248T>A (p.Leu83Gln) c.260T>A (p.Leu87Gln) c.221T>A (p.Leu74Gln) n.322T>A c.29T>A (p.Leu10Gln) n.449T>A n.275T>A | |
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 |