| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.19895498C>A | CA410686627 | TXNRD2 | c.858G>T (p.Arg286Ser) c.768G>T (p.Arg256Ser) c.855G>T (p.Arg285Ser) c.789G>T (p.Arg263Ser) c.801G>T (p.Arg267Ser) c.355G>T c.762G>T (p.Arg254Ser) n.932G>T c.570G>T (p.Arg190Ser) c.87G>T (p.Arg29Ser) n.444G>T n.990G>T n.816G>T | |
| 22 | g.19895498C= | CA2396091984 | TXNRD2 | c.858G= (p.Arg286=) c.768G= (p.Arg256=) c.855G= (p.Arg285=) c.789G= (p.Arg263=) c.801G= (p.Arg267=) c.355G= c.762G= (p.Arg254=) n.932G= c.570G= (p.Arg190=) c.87G= (p.Arg29=) n.444G= n.990G= n.816G= | |
| 22 | g.19895498C>G | CA10103956 | TXNRD2 | c.858G>C (p.Arg286Ser) c.768G>C (p.Arg256Ser) c.855G>C (p.Arg285Ser) c.789G>C (p.Arg263Ser) c.801G>C (p.Arg267Ser) c.355G>C c.762G>C (p.Arg254Ser) n.932G>C c.570G>C (p.Arg190Ser) c.87G>C (p.Arg29Ser) n.444G>C n.990G>C n.816G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19895498C>T | CA10103957 | TXNRD2 | c.858G>A (p.Arg286=) c.768G>A (p.Arg256=) c.855G>A (p.Arg285=) c.789G>A (p.Arg263=) c.801G>A (p.Arg267=) c.355G>A c.762G>A (p.Arg254=) n.932G>A c.570G>A (p.Arg190=) c.87G>A (p.Arg29=) n.444G>A n.990G>A n.816G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19895499C>A | CA410686628 | TXNRD2 | c.857G>T (p.Arg286Met) c.767G>T (p.Arg256Met) c.854G>T (p.Arg285Met) c.788G>T (p.Arg263Met) c.800G>T (p.Arg267Met) c.354G>T c.761G>T (p.Arg254Met) n.931G>T c.569G>T (p.Arg190Met) c.86G>T (p.Arg29Met) n.443G>T n.989G>T n.815G>T | |
| 22 | g.19895499C>G | CA410686629 | TXNRD2 | c.857G>C (p.Arg286Thr) c.767G>C (p.Arg256Thr) c.854G>C (p.Arg285Thr) c.788G>C (p.Arg263Thr) c.800G>C (p.Arg267Thr) c.354G>C c.761G>C (p.Arg254Thr) n.931G>C c.569G>C (p.Arg190Thr) c.86G>C (p.Arg29Thr) n.443G>C n.989G>C n.815G>C | |
| 22 | g.19895499C>T | CA410686630 | TXNRD2 | c.857G>A (p.Arg286Lys) c.767G>A (p.Arg256Lys) c.854G>A (p.Arg285Lys) c.788G>A (p.Arg263Lys) c.800G>A (p.Arg267Lys) c.354G>A c.761G>A (p.Arg254Lys) n.931G>A c.569G>A (p.Arg190Lys) c.86G>A (p.Arg29Lys) n.443G>A n.989G>A n.815G>A | |
| 22 | g.19895500del | CA2655325685 | TXNRD2 | c.856del (p.Arg286GlyfsTer?) c.766del (p.Arg256GlyfsTer?) c.853del (p.Arg285GlyfsTer?) c.787del (p.Arg263GlyfsTer?) c.799del (p.Arg267GlyfsTer?) c.353del c.760del (p.Arg254GlyfsTer?) n.930del c.568del (p.Arg190GlyfsTer?) c.85del (p.Arg29GlyfsTer?) n.442del n.988del n.814del | gnomAD v4 |
| 22 | g.19895500T>A | CA410686631 | TXNRD2 | c.856A>T (p.Arg286Trp) c.766A>T (p.Arg256Trp) c.853A>T (p.Arg285Trp) c.787A>T (p.Arg263Trp) c.799A>T (p.Arg267Trp) c.353A>T c.760A>T (p.Arg254Trp) n.930A>T c.568A>T (p.Arg190Trp) c.85A>T (p.Arg29Trp) n.442A>T n.988A>T n.814A>T | |
| 22 | g.19895500T>C | CA410686632 | TXNRD2 | c.856A>G (p.Arg286Gly) c.766A>G (p.Arg256Gly) c.853A>G (p.Arg285Gly) c.787A>G (p.Arg263Gly) c.799A>G (p.Arg267Gly) c.353A>G c.760A>G (p.Arg254Gly) n.930A>G c.568A>G (p.Arg190Gly) c.85A>G (p.Arg29Gly) n.442A>G n.988A>G n.814A>G | |
| 22 | g.19895500T>G | CA513365242 | TXNRD2 | c.856A>C (p.Arg286=) c.766A>C (p.Arg256=) c.853A>C (p.Arg285=) c.787A>C (p.Arg263=) c.799A>C (p.Arg267=) c.353A>C c.760A>C (p.Arg254=) n.930A>C c.568A>C (p.Arg190=) c.85A>C (p.Arg29=) n.442A>C n.988A>C n.814A>C | |
| 22 | g.19895501C>A | CA410686633 | TXNRD2 | c.855G>T (p.Arg285Ser) c.765G>T (p.Arg255Ser) c.852G>T (p.Arg284Ser) c.786G>T (p.Arg262Ser) c.798G>T (p.Arg266Ser) c.352G>T c.759G>T (p.Arg253Ser) n.929G>T c.567G>T (p.Arg189Ser) c.84G>T (p.Arg28Ser) n.441G>T n.987G>T n.813G>T | |
| 22 | g.19895501C>G | CA410686634 | TXNRD2 | c.855G>C (p.Arg285Ser) c.765G>C (p.Arg255Ser) c.852G>C (p.Arg284Ser) c.786G>C (p.Arg262Ser) c.798G>C (p.Arg266Ser) c.352G>C c.759G>C (p.Arg253Ser) n.929G>C c.567G>C (p.Arg189Ser) c.84G>C (p.Arg28Ser) n.441G>C n.987G>C n.813G>C | |
| 22 | g.19895501C>T | CA513365247 | TXNRD2 | c.855G>A (p.Arg285=) c.765G>A (p.Arg255=) c.852G>A (p.Arg284=) c.786G>A (p.Arg262=) c.798G>A (p.Arg266=) c.352G>A c.759G>A (p.Arg253=) n.929G>A c.567G>A (p.Arg189=) c.84G>A (p.Arg28=) n.441G>A n.987G>A n.813G>A | ClinVar gnomAD v4 |
| 22 | g.19895502C>A | CA410686635 | TXNRD2 | c.854G>T (p.Arg285Met) c.764G>T (p.Arg255Met) c.851G>T (p.Arg284Met) c.785G>T (p.Arg262Met) c.797G>T (p.Arg266Met) c.351G>T c.758G>T (p.Arg253Met) n.928G>T c.566G>T (p.Arg189Met) c.83G>T (p.Arg28Met) n.440G>T n.986G>T n.812G>T | |
| 22 | g.19895502C>G | CA410686636 | TXNRD2 | c.854G>C (p.Arg285Thr) c.764G>C (p.Arg255Thr) c.851G>C (p.Arg284Thr) c.785G>C (p.Arg262Thr) c.797G>C (p.Arg266Thr) c.351G>C c.758G>C (p.Arg253Thr) n.928G>C c.566G>C (p.Arg189Thr) c.83G>C (p.Arg28Thr) n.440G>C n.986G>C n.812G>C | |
| 22 | g.19895502C>T | CA410686637 | TXNRD2 | c.854G>A (p.Arg285Lys) c.764G>A (p.Arg255Lys) c.851G>A (p.Arg284Lys) c.785G>A (p.Arg262Lys) c.797G>A (p.Arg266Lys) c.351G>A c.758G>A (p.Arg253Lys) n.928G>A c.566G>A (p.Arg189Lys) c.83G>A (p.Arg28Lys) n.440G>A n.986G>A n.812G>A | |
| 22 | g.19895503T>A | CA410686638 | TXNRD2 | c.853A>T (p.Arg285Trp) c.763A>T (p.Arg255Trp) c.850A>T (p.Arg284Trp) c.784A>T (p.Arg262Trp) c.796A>T (p.Arg266Trp) c.350A>T c.757A>T (p.Arg253Trp) n.927A>T c.565A>T (p.Arg189Trp) c.82A>T (p.Arg28Trp) n.439A>T n.985A>T n.811A>T | |
| 22 | g.19895503T>C | CA410686639 | TXNRD2 | c.853A>G (p.Arg285Gly) c.763A>G (p.Arg255Gly) c.850A>G (p.Arg284Gly) c.784A>G (p.Arg262Gly) c.796A>G (p.Arg266Gly) c.350A>G c.757A>G (p.Arg253Gly) n.927A>G c.565A>G (p.Arg189Gly) c.82A>G (p.Arg28Gly) n.439A>G n.985A>G n.811A>G | gnomAD v4 |
| 22 | g.19895503T>G | CA513365256 | TXNRD2 | c.853A>C (p.Arg285=) c.763A>C (p.Arg255=) c.850A>C (p.Arg284=) c.784A>C (p.Arg262=) c.796A>C (p.Arg266=) c.350A>C c.757A>C (p.Arg253=) n.927A>C c.565A>C (p.Arg189=) c.82A>C (p.Arg28=) n.439A>C n.985A>C n.811A>C | |
| 22 | g.19895504G>A | CA513365267 | TXNRD2 | c.852C>T (p.Val284=) c.762C>T (p.Val254=) c.849C>T (p.Val283=) c.783C>T (p.Val261=) c.795C>T (p.Val265=) c.349C>T c.756C>T (p.Val252=) n.926C>T c.564C>T (p.Val188=) c.81C>T (p.Val27=) n.438C>T n.984C>T n.810C>T | |
| 22 | g.19895504G>C | CA513365263 | TXNRD2 | c.852C>G (p.Val284=) c.762C>G (p.Val254=) c.849C>G (p.Val283=) c.783C>G (p.Val261=) c.795C>G (p.Val265=) c.349C>G c.756C>G (p.Val252=) n.926C>G c.564C>G (p.Val188=) c.81C>G (p.Val27=) n.438C>G n.984C>G n.810C>G | |
| 22 | g.19895504G>T | CA513365261 | TXNRD2 | c.852C>A (p.Val284=) c.762C>A (p.Val254=) c.849C>A (p.Val283=) c.783C>A (p.Val261=) c.795C>A (p.Val265=) c.349C>A c.756C>A (p.Val252=) n.926C>A c.564C>A (p.Val188=) c.81C>A (p.Val27=) n.438C>A n.984C>A n.810C>A | |
| 22 | g.19895506_19895532del | CA2655325693 | TXNRD2 | c.826_852del (p.Leu276_Val284del) c.736_762del (p.Leu246_Val254del) c.823_849del (p.Leu275_Val283del) c.757_783del (p.Leu253_Val261del) c.769_795del (p.Leu257_Val265del) c.323_349del c.730_756del (p.Leu244_Val252del) n.900_926del c.538_564del (p.Leu180_Val188del) c.55_81del (p.Leu19_Val27del) n.412_438del n.958_984del n.784_810del | gnomAD v4 |
| 22 | g.19895505A= | CA2396091985 | TXNRD2 | c.851T= (p.Val284=) c.761T= (p.Val254=) c.848T= (p.Val283=) c.782T= (p.Val261=) c.794T= (p.Val265=) c.348T= c.755T= (p.Val252=) n.925T= c.563T= (p.Val188=) c.80T= (p.Val27=) n.437T= n.983T= n.809T= | |
| 22 | g.19895505A>C | CA410686640 | TXNRD2 | c.851T>G (p.Val284Gly) c.761T>G (p.Val254Gly) c.848T>G (p.Val283Gly) c.782T>G (p.Val261Gly) c.794T>G (p.Val265Gly) c.348T>G c.755T>G (p.Val252Gly) n.925T>G c.563T>G (p.Val188Gly) c.80T>G (p.Val27Gly) n.437T>G n.983T>G n.809T>G | |
| 22 | g.19895505A>G | CA322099008 | TXNRD2 | c.851T>C (p.Val284Ala) c.761T>C (p.Val254Ala) c.848T>C (p.Val283Ala) c.782T>C (p.Val261Ala) c.794T>C (p.Val265Ala) c.348T>C c.755T>C (p.Val252Ala) n.925T>C c.563T>C (p.Val188Ala) c.80T>C (p.Val27Ala) n.437T>C n.983T>C n.809T>C | dbSNP |
| 22 | g.19895505A>T | CA322099010 | TXNRD2 | c.851T>A (p.Val284Asp) c.761T>A (p.Val254Asp) c.848T>A (p.Val283Asp) c.782T>A (p.Val261Asp) c.794T>A (p.Val265Asp) c.348T>A c.755T>A (p.Val252Asp) n.925T>A c.563T>A (p.Val188Asp) c.80T>A (p.Val27Asp) n.437T>A n.983T>A n.809T>A | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.19895506C>A | CA410686641 | TXNRD2 | c.850G>T (p.Val284Phe) c.760G>T (p.Val254Phe) c.847G>T (p.Val283Phe) c.781G>T (p.Val261Phe) c.793G>T (p.Val265Phe) c.347G>T c.754G>T (p.Val252Phe) n.924G>T c.562G>T (p.Val188Phe) c.79G>T (p.Val27Phe) n.436G>T n.982G>T n.808G>T | dbSNP gnomAD v4 |
| 22 | g.19895506C= | CA2396091986 | TXNRD2 | c.850G= (p.Val284=) c.760G= (p.Val254=) c.847G= (p.Val283=) c.781G= (p.Val261=) c.793G= (p.Val265=) c.347G= c.754G= (p.Val252=) n.924G= c.562G= (p.Val188=) c.79G= (p.Val27=) n.436G= n.982G= n.808G= | |
| 22 | g.19895506C>G | CA10103958 | TXNRD2 | c.850G>C (p.Val284Leu) c.760G>C (p.Val254Leu) c.847G>C (p.Val283Leu) c.781G>C (p.Val261Leu) c.793G>C (p.Val265Leu) c.347G>C c.754G>C (p.Val252Leu) n.924G>C c.562G>C (p.Val188Leu) c.79G>C (p.Val27Leu) n.436G>C n.982G>C n.808G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19895506C>T | CA410686642 | TXNRD2 | c.850G>A (p.Val284Ile) c.760G>A (p.Val254Ile) c.847G>A (p.Val283Ile) c.781G>A (p.Val261Ile) c.793G>A (p.Val265Ile) c.347G>A c.754G>A (p.Val252Ile) n.924G>A c.562G>A (p.Val188Ile) c.79G>A (p.Val27Ile) n.436G>A n.982G>A n.808G>A | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.19895507C>A | CA10103959 | TXNRD2 | c.849G>T (p.Arg283=) c.759G>T (p.Arg253=) c.846G>T (p.Arg282=) c.780G>T (p.Arg260=) c.792G>T (p.Arg264=) c.346G>T c.753G>T (p.Arg251=) n.923G>T c.561G>T (p.Arg187=) c.78G>T (p.Arg26=) n.435G>T n.981G>T n.807G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19895507C= | CA2396091987 | TXNRD2 | c.849G= (p.Arg283=) c.759G= (p.Arg253=) c.846G= (p.Arg282=) c.780G= (p.Arg260=) c.792G= (p.Arg264=) c.346G= c.753G= (p.Arg251=) n.923G= c.561G= (p.Arg187=) c.78G= (p.Arg26=) n.435G= n.981G= n.807G= | |
| 22 | g.19895507C>G | CA513365282 | TXNRD2 | c.849G>C (p.Arg283=) c.759G>C (p.Arg253=) c.846G>C (p.Arg282=) c.780G>C (p.Arg260=) c.792G>C (p.Arg264=) c.346G>C c.753G>C (p.Arg251=) n.923G>C c.561G>C (p.Arg187=) c.78G>C (p.Arg26=) n.435G>C n.981G>C n.807G>C | |
| 22 | g.19895507C>T | CA10103960 | TXNRD2 | c.849G>A (p.Arg283=) c.759G>A (p.Arg253=) c.846G>A (p.Arg282=) c.780G>A (p.Arg260=) c.792G>A (p.Arg264=) c.346G>A c.753G>A (p.Arg251=) n.923G>A c.561G>A (p.Arg187=) c.78G>A (p.Arg26=) n.435G>A n.981G>A n.807G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19895508C>A | CA410686643 | TXNRD2 | c.848G>T (p.Arg283Leu) c.758G>T (p.Arg253Leu) c.845G>T (p.Arg282Leu) c.779G>T (p.Arg260Leu) c.791G>T (p.Arg264Leu) c.345G>T c.752G>T (p.Arg251Leu) n.922G>T c.560G>T (p.Arg187Leu) c.77G>T (p.Arg26Leu) n.434G>T n.980G>T n.806G>T | |
| 22 | g.19895508C= | CA2396091988 | TXNRD2 | c.848G= (p.Arg283=) c.758G= (p.Arg253=) c.845G= (p.Arg282=) c.779G= (p.Arg260=) c.791G= (p.Arg264=) c.345G= c.752G= (p.Arg251=) n.922G= c.560G= (p.Arg187=) c.77G= (p.Arg26=) n.434G= n.980G= n.806G= | |
| 22 | g.19895508C>G | CA410686644 | TXNRD2 | c.848G>C (p.Arg283Pro) c.758G>C (p.Arg253Pro) c.845G>C (p.Arg282Pro) c.779G>C (p.Arg260Pro) c.791G>C (p.Arg264Pro) c.345G>C c.752G>C (p.Arg251Pro) n.922G>C c.560G>C (p.Arg187Pro) c.77G>C (p.Arg26Pro) n.434G>C n.980G>C n.806G>C | gnomAD v4 |
| 22 | g.19895508C>T | CA10103961 | TXNRD2 | c.848G>A (p.Arg283Gln) c.758G>A (p.Arg253Gln) c.845G>A (p.Arg282Gln) c.779G>A (p.Arg260Gln) c.791G>A (p.Arg264Gln) c.345G>A c.752G>A (p.Arg251Gln) n.922G>A c.560G>A (p.Arg187Gln) c.77G>A (p.Arg26Gln) n.434G>A n.980G>A n.806G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19895509G>A | CA10103962 | TXNRD2 | c.847C>T (p.Arg283Trp) c.757C>T (p.Arg253Trp) c.844C>T (p.Arg282Trp) c.778C>T (p.Arg260Trp) c.790C>T (p.Arg264Trp) c.344C>T c.751C>T (p.Arg251Trp) n.921C>T c.559C>T (p.Arg187Trp) c.76C>T (p.Arg26Trp) n.433C>T n.979C>T n.805C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19895509G>C | CA322099012 | TXNRD2 | c.847C>G (p.Arg283Gly) c.757C>G (p.Arg253Gly) c.844C>G (p.Arg282Gly) c.778C>G (p.Arg260Gly) c.790C>G (p.Arg264Gly) c.344C>G c.751C>G (p.Arg251Gly) n.921C>G c.559C>G (p.Arg187Gly) c.76C>G (p.Arg26Gly) n.433C>G n.979C>G n.805C>G | dbSNP gnomAD v4 |
| 22 | g.19895509G= | CA2396091989 | TXNRD2 | c.847C= (p.Arg283=) c.757C= (p.Arg253=) c.844C= (p.Arg282=) c.778C= (p.Arg260=) c.790C= (p.Arg264=) c.344C= c.751C= (p.Arg251=) n.921C= c.559C= (p.Arg187=) c.76C= (p.Arg26=) n.433C= n.979C= n.805C= | |
| 22 | g.19895509G>T | CA513365292 | TXNRD2 | c.847C>A (p.Arg283=) c.757C>A (p.Arg253=) c.844C>A (p.Arg282=) c.778C>A (p.Arg260=) c.790C>A (p.Arg264=) c.344C>A c.751C>A (p.Arg251=) n.921C>A c.559C>A (p.Arg187=) c.76C>A (p.Arg26=) n.433C>A n.979C>A n.805C>A | |
| 22 | g.19895510C>A | CA513365301 | TXNRD2 | c.846G>T (p.Ser282=) c.756G>T (p.Ser252=) c.843G>T (p.Ser281=) c.777G>T (p.Ser259=) c.789G>T (p.Ser263=) c.343G>T c.750G>T (p.Ser250=) n.920G>T c.558G>T (p.Ser186=) c.75G>T (p.Ser25=) n.432G>T n.978G>T n.804G>T | |
| 22 | g.19895510C= | CA2396091990 | TXNRD2 | c.846G= (p.Ser282=) c.756G= (p.Ser252=) c.843G= (p.Ser281=) c.777G= (p.Ser259=) c.789G= (p.Ser263=) c.343G= c.750G= (p.Ser250=) n.920G= c.558G= (p.Ser186=) c.75G= (p.Ser25=) n.432G= n.978G= n.804G= | |
| 22 | g.19895510C>G | CA513365299 | TXNRD2 | c.846G>C (p.Ser282=) c.756G>C (p.Ser252=) c.843G>C (p.Ser281=) c.777G>C (p.Ser259=) c.789G>C (p.Ser263=) c.343G>C c.750G>C (p.Ser250=) n.920G>C c.558G>C (p.Ser186=) c.75G>C (p.Ser25=) n.432G>C n.978G>C n.804G>C | gnomAD v4 |
| 22 | g.19895510C>T | CA10103963 | TXNRD2 | c.846G>A (p.Ser282=) c.756G>A (p.Ser252=) c.843G>A (p.Ser281=) c.777G>A (p.Ser259=) c.789G>A (p.Ser263=) c.343G>A c.750G>A (p.Ser250=) n.920G>A c.558G>A (p.Ser186=) c.75G>A (p.Ser25=) n.432G>A n.978G>A n.804G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19895511G>A | CA10103964 | TXNRD2 | c.845C>T (p.Ser282Leu) c.755C>T (p.Ser252Leu) c.842C>T (p.Ser281Leu) c.776C>T (p.Ser259Leu) c.788C>T (p.Ser263Leu) c.342C>T c.749C>T (p.Ser250Leu) n.919C>T c.557C>T (p.Ser186Leu) c.74C>T (p.Ser25Leu) n.431C>T n.977C>T n.803C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.19895511G>C | CA410686646 | TXNRD2 | c.845C>G (p.Ser282Trp) c.755C>G (p.Ser252Trp) c.842C>G (p.Ser281Trp) c.776C>G (p.Ser259Trp) c.788C>G (p.Ser263Trp) c.342C>G c.749C>G (p.Ser250Trp) n.919C>G c.557C>G (p.Ser186Trp) c.74C>G (p.Ser25Trp) n.431C>G n.977C>G n.803C>G |