| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 | |
| 22 | g.19895511G= | CA2396091991 | TXNRD2 | c.845C= (p.Ser282=) c.755C= (p.Ser252=) c.842C= (p.Ser281=) c.776C= (p.Ser259=) c.788C= (p.Ser263=) c.342C= c.749C= (p.Ser250=) n.919C= c.557C= (p.Ser186=) c.74C= (p.Ser25=) n.431C= n.977C= n.803C= | |
| 22 | g.19895511G>T | CA410686645 | TXNRD2 | c.845C>A (p.Ser282Ter) c.755C>A (p.Ser252Ter) c.842C>A (p.Ser281Ter) c.776C>A (p.Ser259Ter) c.788C>A (p.Ser263Ter) c.342C>A c.749C>A (p.Ser250Ter) n.919C>A c.557C>A (p.Ser186Ter) c.74C>A (p.Ser25Ter) n.431C>A n.977C>A n.803C>A | |
| 22 | g.19895512A>C | CA410686647 | TXNRD2 | c.844T>G (p.Ser282Ala) c.754T>G (p.Ser252Ala) c.841T>G (p.Ser281Ala) c.775T>G (p.Ser259Ala) c.787T>G (p.Ser263Ala) c.341T>G c.748T>G (p.Ser250Ala) n.918T>G c.556T>G (p.Ser186Ala) c.73T>G (p.Ser25Ala) n.430T>G n.976T>G n.802T>G | |
| 22 | g.19895512A>G | CA410686649 | TXNRD2 | c.844T>C (p.Ser282Pro) c.754T>C (p.Ser252Pro) c.841T>C (p.Ser281Pro) c.775T>C (p.Ser259Pro) c.787T>C (p.Ser263Pro) c.341T>C c.748T>C (p.Ser250Pro) n.918T>C c.556T>C (p.Ser186Pro) c.73T>C (p.Ser25Pro) n.430T>C n.976T>C n.802T>C | |
| 22 | g.19895512A>T | CA410686648 | TXNRD2 | c.844T>A (p.Ser282Thr) c.754T>A (p.Ser252Thr) c.841T>A (p.Ser281Thr) c.775T>A (p.Ser259Thr) c.787T>A (p.Ser263Thr) c.341T>A c.748T>A (p.Ser250Thr) n.918T>A c.556T>A (p.Ser186Thr) c.73T>A (p.Ser25Thr) n.430T>A n.976T>A n.802T>A | |
| 22 | g.19895513G>A | CA513365316 | TXNRD2 | c.843C>T (p.Pro281=) c.753C>T (p.Pro251=) c.840C>T (p.Pro280=) c.774C>T (p.Pro258=) c.786C>T (p.Pro262=) c.340C>T c.747C>T (p.Pro249=) n.917C>T c.555C>T (p.Pro185=) c.72C>T (p.Pro24=) n.429C>T n.975C>T n.801C>T | dbSNP |
| 22 | g.19895513G>C | CA513365315 | TXNRD2 | c.843C>G (p.Pro281=) c.753C>G (p.Pro251=) c.840C>G (p.Pro280=) c.774C>G (p.Pro258=) c.786C>G (p.Pro262=) c.340C>G c.747C>G (p.Pro249=) n.917C>G c.555C>G (p.Pro185=) c.72C>G (p.Pro24=) n.429C>G n.975C>G n.801C>G | |
| 22 | g.19895513G= | CA2396091992 | TXNRD2 | c.843C= (p.Pro281=) c.753C= (p.Pro251=) c.840C= (p.Pro280=) c.774C= (p.Pro258=) c.786C= (p.Pro262=) c.340C= c.747C= (p.Pro249=) n.917C= c.555C= (p.Pro185=) c.72C= (p.Pro24=) n.429C= n.975C= n.801C= | |
| 22 | g.19895513G>T | CA513365314 | TXNRD2 | c.843C>A (p.Pro281=) c.753C>A (p.Pro251=) c.840C>A (p.Pro280=) c.774C>A (p.Pro258=) c.786C>A (p.Pro262=) c.340C>A c.747C>A (p.Pro249=) n.917C>A c.555C>A (p.Pro185=) c.72C>A (p.Pro24=) n.429C>A n.975C>A n.801C>A | |
| 22 | g.19895514G>A | CA410686650 | TXNRD2 | c.842C>T (p.Pro281Leu) c.752C>T (p.Pro251Leu) c.839C>T (p.Pro280Leu) c.773C>T (p.Pro258Leu) c.785C>T (p.Pro262Leu) c.339C>T c.746C>T (p.Pro249Leu) n.916C>T c.554C>T (p.Pro185Leu) c.71C>T (p.Pro24Leu) n.428C>T n.974C>T n.800C>T | |
| 22 | g.19895514G>C | CA410686652 | TXNRD2 | c.842C>G (p.Pro281Arg) c.752C>G (p.Pro251Arg) c.839C>G (p.Pro280Arg) c.773C>G (p.Pro258Arg) c.785C>G (p.Pro262Arg) c.339C>G c.746C>G (p.Pro249Arg) n.916C>G c.554C>G (p.Pro185Arg) c.71C>G (p.Pro24Arg) n.428C>G n.974C>G n.800C>G | |
| 22 | g.19895514G>T | CA410686651 | TXNRD2 | c.842C>A (p.Pro281His) c.752C>A (p.Pro251His) c.839C>A (p.Pro280His) c.773C>A (p.Pro258His) c.785C>A (p.Pro262His) c.339C>A c.746C>A (p.Pro249His) n.916C>A c.554C>A (p.Pro185His) c.71C>A (p.Pro24His) n.428C>A n.974C>A n.800C>A | |
| 22 | g.19895515G>A | CA10103965 | TXNRD2 | c.841C>T (p.Pro281Ser) c.751C>T (p.Pro251Ser) c.838C>T (p.Pro280Ser) c.772C>T (p.Pro258Ser) c.784C>T (p.Pro262Ser) c.338C>T c.745C>T (p.Pro249Ser) n.915C>T c.553C>T (p.Pro185Ser) c.70C>T (p.Pro24Ser) n.427C>T n.973C>T n.799C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.19895515G>C | CA410686653 | TXNRD2 | c.841C>G (p.Pro281Ala) c.751C>G (p.Pro251Ala) c.838C>G (p.Pro280Ala) c.772C>G (p.Pro258Ala) c.784C>G (p.Pro262Ala) c.338C>G c.745C>G (p.Pro249Ala) n.915C>G c.553C>G (p.Pro185Ala) c.70C>G (p.Pro24Ala) n.427C>G n.973C>G n.799C>G | |
| 22 | g.19895515G= | CA2396091993 | TXNRD2 | c.841C= (p.Pro281=) c.751C= (p.Pro251=) c.838C= (p.Pro280=) c.772C= (p.Pro258=) c.784C= (p.Pro262=) c.338C= c.745C= (p.Pro249=) n.915C= c.553C= (p.Pro185=) c.70C= (p.Pro24=) n.427C= n.973C= n.799C= | |
| 22 | g.19895515G>T | CA410686654 | TXNRD2 | c.841C>A (p.Pro281Thr) c.751C>A (p.Pro251Thr) c.838C>A (p.Pro280Thr) c.772C>A (p.Pro258Thr) c.784C>A (p.Pro262Thr) c.338C>A c.745C>A (p.Pro249Thr) n.915C>A c.553C>A (p.Pro185Thr) c.70C>A (p.Pro24Thr) n.427C>A n.973C>A n.799C>A | |
| 22 | g.19895516G>A | CA513365330 | TXNRD2 | c.840C>T (p.Ala280=) c.750C>T (p.Ala250=) c.837C>T (p.Ala279=) c.771C>T (p.Ala257=) c.783C>T (p.Ala261=) c.337C>T c.744C>T (p.Ala248=) n.914C>T c.552C>T (p.Ala184=) c.69C>T (p.Ala23=) n.426C>T n.972C>T n.798C>T | |
| 22 | g.19895516G>C | CA513365328 | TXNRD2 | c.840C>G (p.Ala280=) c.750C>G (p.Ala250=) c.837C>G (p.Ala279=) c.771C>G (p.Ala257=) c.783C>G (p.Ala261=) c.337C>G c.744C>G (p.Ala248=) n.914C>G c.552C>G (p.Ala184=) c.69C>G (p.Ala23=) n.426C>G n.972C>G n.798C>G | |
| 22 | g.19895516G= | CA2396091994 | TXNRD2 | c.840C= (p.Ala280=) c.750C= (p.Ala250=) c.837C= (p.Ala279=) c.771C= (p.Ala257=) c.783C= (p.Ala261=) c.337C= c.744C= (p.Ala248=) n.914C= c.552C= (p.Ala184=) c.69C= (p.Ala23=) n.426C= n.972C= n.798C= | |
| 22 | g.19895516G>T | CA513365327 | TXNRD2 | c.840C>A (p.Ala280=) c.750C>A (p.Ala250=) c.837C>A (p.Ala279=) c.771C>A (p.Ala257=) c.783C>A (p.Ala261=) c.337C>A c.744C>A (p.Ala248=) n.914C>A c.552C>A (p.Ala184=) c.69C>A (p.Ala23=) n.426C>A n.972C>A n.798C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.19895517G>A | CA410686655 | TXNRD2 | c.839C>T (p.Ala280Val) c.749C>T (p.Ala250Val) c.836C>T (p.Ala279Val) c.770C>T (p.Ala257Val) c.782C>T (p.Ala261Val) c.336C>T c.743C>T (p.Ala248Val) n.913C>T c.551C>T (p.Ala184Val) c.68C>T (p.Ala23Val) n.425C>T n.971C>T n.797C>T | ClinVar dbSNP |
| 22 | g.19895517G>C | CA410686656 | TXNRD2 | c.839C>G (p.Ala280Gly) c.749C>G (p.Ala250Gly) c.836C>G (p.Ala279Gly) c.770C>G (p.Ala257Gly) c.782C>G (p.Ala261Gly) c.336C>G c.743C>G (p.Ala248Gly) n.913C>G c.551C>G (p.Ala184Gly) c.68C>G (p.Ala23Gly) n.425C>G n.971C>G n.797C>G | gnomAD v4 |
| 22 | g.19895517G>T | CA410686657 | TXNRD2 | c.839C>A (p.Ala280Asp) c.749C>A (p.Ala250Asp) c.836C>A (p.Ala279Asp) c.770C>A (p.Ala257Asp) c.782C>A (p.Ala261Asp) c.336C>A c.743C>A (p.Ala248Asp) n.913C>A c.551C>A (p.Ala184Asp) c.68C>A (p.Ala23Asp) n.425C>A n.971C>A n.797C>A | |
| 22 | g.19895518C>A | CA410686658 | TXNRD2 | c.838G>T (p.Ala280Ser) c.748G>T (p.Ala250Ser) c.835G>T (p.Ala279Ser) c.769G>T (p.Ala257Ser) c.781G>T (p.Ala261Ser) c.335G>T c.742G>T (p.Ala248Ser) n.912G>T c.550G>T (p.Ala184Ser) c.67G>T (p.Ala23Ser) n.424G>T n.970G>T n.796G>T | |
| 22 | g.19895518C>G | CA410686659 | TXNRD2 | c.838G>C (p.Ala280Pro) c.748G>C (p.Ala250Pro) c.835G>C (p.Ala279Pro) c.769G>C (p.Ala257Pro) c.781G>C (p.Ala261Pro) c.335G>C c.742G>C (p.Ala248Pro) n.912G>C c.550G>C (p.Ala184Pro) c.67G>C (p.Ala23Pro) n.424G>C n.970G>C n.796G>C | |
| 22 | g.19895518C>T | CA410686660 | TXNRD2 | c.838G>A (p.Ala280Thr) c.748G>A (p.Ala250Thr) c.835G>A (p.Ala279Thr) c.769G>A (p.Ala257Thr) c.781G>A (p.Ala261Thr) c.335G>A c.742G>A (p.Ala248Thr) n.912G>A c.550G>A (p.Ala184Thr) c.67G>A (p.Ala23Thr) n.424G>A n.970G>A n.796G>A | |
| 22 | g.19895519A= | CA2396091995 | TXNRD2 | c.837T= (p.Cys279=) c.747T= (p.Cys249=) c.834T= (p.Cys278=) c.768T= (p.Cys256=) c.780T= (p.Cys260=) c.334T= c.741T= (p.Cys247=) n.911T= c.549T= (p.Cys183=) c.66T= (p.Cys22=) n.423T= n.969T= n.795T= | |
| 22 | g.19895519A>C | CA410686661 | TXNRD2 | c.837T>G (p.Cys279Trp) c.747T>G (p.Cys249Trp) c.834T>G (p.Cys278Trp) c.768T>G (p.Cys256Trp) c.780T>G (p.Cys260Trp) c.334T>G c.741T>G (p.Cys247Trp) n.911T>G c.549T>G (p.Cys183Trp) c.66T>G (p.Cys22Trp) n.423T>G n.969T>G n.795T>G | |
| 22 | g.19895519A>G | CA10103966 | TXNRD2 | c.837T>C (p.Cys279=) c.747T>C (p.Cys249=) c.834T>C (p.Cys278=) c.768T>C (p.Cys256=) c.780T>C (p.Cys260=) c.334T>C c.741T>C (p.Cys247=) n.911T>C c.549T>C (p.Cys183=) c.66T>C (p.Cys22=) n.423T>C n.969T>C n.795T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19895519A>T | CA410686662 | TXNRD2 | c.837T>A (p.Cys279Ter) c.747T>A (p.Cys249Ter) c.834T>A (p.Cys278Ter) c.768T>A (p.Cys256Ter) c.780T>A (p.Cys260Ter) c.334T>A c.741T>A (p.Cys247Ter) n.911T>A c.549T>A (p.Cys183Ter) c.66T>A (p.Cys22Ter) n.423T>A n.969T>A n.795T>A | |
| 22 | g.19895520C>A | CA410686664 | TXNRD2 | c.836G>T (p.Cys279Phe) c.746G>T (p.Cys249Phe) c.833G>T (p.Cys278Phe) c.767G>T (p.Cys256Phe) c.779G>T (p.Cys260Phe) c.333G>T c.740G>T (p.Cys247Phe) n.910G>T c.548G>T (p.Cys183Phe) c.65G>T (p.Cys22Phe) n.422G>T n.968G>T n.794G>T | |
| 22 | g.19895520C= | CA2396091996 | TXNRD2 | c.836G= (p.Cys279=) c.746G= (p.Cys249=) c.833G= (p.Cys278=) c.767G= (p.Cys256=) c.779G= (p.Cys260=) c.333G= c.740G= (p.Cys247=) n.910G= c.548G= (p.Cys183=) c.65G= (p.Cys22=) n.422G= n.968G= n.794G= | |
| 22 | g.19895520C>G | CA410686663 | TXNRD2 | c.836G>C (p.Cys279Ser) c.746G>C (p.Cys249Ser) c.833G>C (p.Cys278Ser) c.767G>C (p.Cys256Ser) c.779G>C (p.Cys260Ser) c.333G>C c.740G>C (p.Cys247Ser) n.910G>C c.548G>C (p.Cys183Ser) c.65G>C (p.Cys22Ser) n.422G>C n.968G>C n.794G>C | |
| 22 | g.19895520C>T | CA10103967 | TXNRD2 | c.836G>A (p.Cys279Tyr) c.746G>A (p.Cys249Tyr) c.833G>A (p.Cys278Tyr) c.767G>A (p.Cys256Tyr) c.779G>A (p.Cys260Tyr) c.333G>A c.740G>A (p.Cys247Tyr) n.910G>A c.548G>A (p.Cys183Tyr) c.65G>A (p.Cys22Tyr) n.422G>A n.968G>A n.794G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.19895521A= | CA2396091997 | TXNRD2 | c.835T= (p.Cys279=) c.745T= (p.Cys249=) c.832T= (p.Cys278=) c.766T= (p.Cys256=) c.778T= (p.Cys260=) c.332T= c.739T= (p.Cys247=) n.909T= c.547T= (p.Cys183=) c.64T= (p.Cys22=) n.421T= n.967T= n.793T= | |
| 22 | g.19895521A>C | CA410686665 | TXNRD2 | c.835T>G (p.Cys279Gly) c.745T>G (p.Cys249Gly) c.832T>G (p.Cys278Gly) c.766T>G (p.Cys256Gly) c.778T>G (p.Cys260Gly) c.332T>G c.739T>G (p.Cys247Gly) n.909T>G c.547T>G (p.Cys183Gly) c.64T>G (p.Cys22Gly) n.421T>G n.967T>G n.793T>G | |
| 22 | g.19895521A>G | CA410686666 | TXNRD2 | c.835T>C (p.Cys279Arg) c.745T>C (p.Cys249Arg) c.832T>C (p.Cys278Arg) c.766T>C (p.Cys256Arg) c.778T>C (p.Cys260Arg) c.332T>C c.739T>C (p.Cys247Arg) n.909T>C c.547T>C (p.Cys183Arg) c.64T>C (p.Cys22Arg) n.421T>C n.967T>C n.793T>C | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.19895521A>T | CA410686667 | TXNRD2 | c.835T>A (p.Cys279Ser) c.745T>A (p.Cys249Ser) c.832T>A (p.Cys278Ser) c.766T>A (p.Cys256Ser) c.778T>A (p.Cys260Ser) c.332T>A c.739T>A (p.Cys247Ser) n.909T>A c.547T>A (p.Cys183Ser) c.64T>A (p.Cys22Ser) n.421T>A n.967T>A n.793T>A | |
| 22 | g.19895522G>A | CA513365358 | TXNRD2 | c.834C>T (p.Gly278=) c.744C>T (p.Gly248=) c.831C>T (p.Gly277=) c.765C>T (p.Gly255=) c.777C>T (p.Gly259=) c.331C>T c.738C>T (p.Gly246=) n.908C>T c.546C>T (p.Gly182=) c.63C>T (p.Gly21=) n.420C>T n.966C>T n.792C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.19895522G>C | CA10103968 | TXNRD2 | c.834C>G (p.Gly278=) c.744C>G (p.Gly248=) c.831C>G (p.Gly277=) c.765C>G (p.Gly255=) c.777C>G (p.Gly259=) c.331C>G c.738C>G (p.Gly246=) n.908C>G c.546C>G (p.Gly182=) c.63C>G (p.Gly21=) n.420C>G n.966C>G n.792C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19895522G= | CA2396091998 | TXNRD2 | c.834C= (p.Gly278=) c.744C= (p.Gly248=) c.831C= (p.Gly277=) c.765C= (p.Gly255=) c.777C= (p.Gly259=) c.331C= c.738C= (p.Gly246=) n.908C= c.546C= (p.Gly182=) c.63C= (p.Gly21=) n.420C= n.966C= n.792C= | |
| 22 | g.19895522G>T | CA513365354 | TXNRD2 | c.834C>A (p.Gly278=) c.744C>A (p.Gly248=) c.831C>A (p.Gly277=) c.765C>A (p.Gly255=) c.777C>A (p.Gly259=) c.331C>A c.738C>A (p.Gly246=) n.908C>A c.546C>A (p.Gly182=) c.63C>A (p.Gly21=) n.420C>A n.966C>A n.792C>A | ClinVar dbSNP gnomAD v4 |
| 22 | g.19895523C>A | CA410686668 | TXNRD2 | c.833G>T (p.Gly278Val) c.743G>T (p.Gly248Val) c.830G>T (p.Gly277Val) c.764G>T (p.Gly255Val) c.776G>T (p.Gly259Val) c.330G>T c.737G>T (p.Gly246Val) n.907G>T c.545G>T (p.Gly182Val) c.62G>T (p.Gly21Val) n.419G>T n.965G>T n.791G>T | |
| 22 | g.19895523C>G | CA410686669 | TXNRD2 | c.833G>C (p.Gly278Ala) c.743G>C (p.Gly248Ala) c.830G>C (p.Gly277Ala) c.764G>C (p.Gly255Ala) c.776G>C (p.Gly259Ala) c.330G>C c.737G>C (p.Gly246Ala) n.907G>C c.545G>C (p.Gly182Ala) c.62G>C (p.Gly21Ala) n.419G>C n.965G>C n.791G>C | |
| 22 | g.19895523C>T | CA410686670 | TXNRD2 | c.833G>A (p.Gly278Asp) c.743G>A (p.Gly248Asp) c.830G>A (p.Gly277Asp) c.764G>A (p.Gly255Asp) c.776G>A (p.Gly259Asp) c.330G>A c.737G>A (p.Gly246Asp) n.907G>A c.545G>A (p.Gly182Asp) c.62G>A (p.Gly21Asp) n.419G>A n.965G>A n.791G>A | gnomAD v4 |
| 22 | g.19895524C>A | CA410686671 | TXNRD2 | c.832G>T (p.Gly278Cys) c.742G>T (p.Gly248Cys) c.829G>T (p.Gly277Cys) c.763G>T (p.Gly255Cys) c.775G>T (p.Gly259Cys) c.329G>T c.736G>T (p.Gly246Cys) n.906G>T c.544G>T (p.Gly182Cys) c.61G>T (p.Gly21Cys) n.418G>T n.964G>T n.790G>T | |
| 22 | g.19895524C>G | CA410686672 | TXNRD2 | c.832G>C (p.Gly278Arg) c.742G>C (p.Gly248Arg) c.829G>C (p.Gly277Arg) c.763G>C (p.Gly255Arg) c.775G>C (p.Gly259Arg) c.329G>C c.736G>C (p.Gly246Arg) n.906G>C c.544G>C (p.Gly182Arg) c.61G>C (p.Gly21Arg) n.418G>C n.964G>C n.790G>C |