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