Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.30671924C>A | CA351807770 | TGFBR2 | c.741C>A (p.Asp247Glu) n.2337C>A c.816C>A (p.Asp272Glu) c.768C>A (p.Asp256Glu) c.693C>A (p.Asp231Glu) c.636C>A (p.Asp212Glu) | |
3 | g.30671924C= | CA1354873053 | TGFBR2 | c.741C= (p.Asp247=) n.2337C= c.816C= (p.Asp272=) c.768C= (p.Asp256=) c.693C= (p.Asp231=) c.636C= (p.Asp212=) | |
3 | g.30671924C>G | CA351807771 | TGFBR2 | c.741C>G (p.Asp247Glu) n.2337C>G c.816C>G (p.Asp272Glu) c.768C>G (p.Asp256Glu) c.693C>G (p.Asp231Glu) c.636C>G (p.Asp212Glu) | dbSNP |
3 | g.30671924C>T | CA049780 | TGFBR2 | c.741C>T (p.Asp247=) n.2337C>T c.816C>T (p.Asp272=) c.768C>T (p.Asp256=) c.693C>T (p.Asp231=) c.636C>T (p.Asp212=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.30671925A= | CA1354873054 | TGFBR2 | c.742A= (p.Thr248=) n.2338A= c.817A= (p.Thr273=) c.769A= (p.Thr257=) c.694A= (p.Thr232=) c.637A= (p.Thr213=) | |
3 | g.30671925A>C | CA351807772 | TGFBR2 | c.742A>C (p.Thr248Pro) n.2338A>C c.817A>C (p.Thr273Pro) c.769A>C (p.Thr257Pro) c.694A>C (p.Thr232Pro) c.637A>C (p.Thr213Pro) | |
3 | g.30671925A>G | CA351807773 | TGFBR2 | c.742A>G (p.Thr248Ala) n.2338A>G c.817A>G (p.Thr273Ala) c.769A>G (p.Thr257Ala) c.694A>G (p.Thr232Ala) c.637A>G (p.Thr213Ala) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.30671925A>T | CA351807774 | TGFBR2 | c.742A>T (p.Thr248Ser) n.2338A>T c.817A>T (p.Thr273Ser) c.769A>T (p.Thr257Ser) c.694A>T (p.Thr232Ser) c.637A>T (p.Thr213Ser) | |
3 | g.30671926C>A | CA351807775 | TGFBR2 | c.743C>A (p.Thr248Asn) n.2339C>A c.818C>A (p.Thr273Asn) c.770C>A (p.Thr257Asn) c.695C>A (p.Thr232Asn) c.638C>A (p.Thr213Asn) | |
3 | g.30671926C>G | CA351807776 | TGFBR2 | c.743C>G (p.Thr248Ser) n.2339C>G c.818C>G (p.Thr273Ser) c.770C>G (p.Thr257Ser) c.695C>G (p.Thr232Ser) c.638C>G (p.Thr213Ser) | dbSNP |
3 | g.30671926C>T | CA351807777 | TGFBR2 | c.743C>T (p.Thr248Ile) n.2339C>T c.818C>T (p.Thr273Ile) c.770C>T (p.Thr257Ile) c.695C>T (p.Thr232Ile) c.638C>T (p.Thr213Ile) | gnomAD v4 COSMIC COSMIC |
3 | g.30671927C>A | CA433058578 | TGFBR2 | c.744C>A (p.Thr248=) n.2340C>A c.819C>A (p.Thr273=) c.771C>A (p.Thr257=) c.696C>A (p.Thr232=) c.639C>A (p.Thr213=) | dbSNP |
3 | g.30671927C= | CA1354873055 | TGFBR2 | c.744C= (p.Thr248=) n.2340C= c.819C= (p.Thr273=) c.771C= (p.Thr257=) c.696C= (p.Thr232=) c.639C= (p.Thr213=) | |
3 | g.30671927C>G | CA433058579 | TGFBR2 | c.744C>G (p.Thr248=) n.2340C>G c.819C>G (p.Thr273=) c.771C>G (p.Thr257=) c.696C>G (p.Thr232=) c.639C>G (p.Thr213=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.30671927C>T | CA433058580 | TGFBR2 | c.744C>T (p.Thr248=) n.2340C>T c.819C>T (p.Thr273=) c.771C>T (p.Thr257=) c.696C>T (p.Thr232=) c.639C>T (p.Thr213=) | dbSNP |
3 | g.30671928C>A | CA351807779 | TGFBR2 | c.745C>A (p.Leu249Met) n.2341C>A c.820C>A (p.Leu274Met) c.772C>A (p.Leu258Met) c.697C>A (p.Leu233Met) c.640C>A (p.Leu214Met) | dbSNP |
3 | g.30671928C= | CA1354873056 | TGFBR2 | c.745C= (p.Leu249=) n.2341C= c.820C= (p.Leu274=) c.772C= (p.Leu258=) c.697C= (p.Leu233=) c.640C= (p.Leu214=) | |
3 | g.30671928C>G | CA351807778 | TGFBR2 | c.745C>G (p.Leu249Val) n.2341C>G c.820C>G (p.Leu274Val) c.772C>G (p.Leu258Val) c.697C>G (p.Leu233Val) c.640C>G (p.Leu214Val) | dbSNP gnomAD v4 |
3 | g.30671928C>T | CA433058583 | TGFBR2 | c.745C>T (p.Leu249=) n.2341C>T c.820C>T (p.Leu274=) c.772C>T (p.Leu258=) c.697C>T (p.Leu233=) c.640C>T (p.Leu214=) | |
3 | g.30671929T>A | CA351807780 | TGFBR2 | c.746T>A (p.Leu249Gln) n.2342T>A c.821T>A (p.Leu274Gln) c.773T>A (p.Leu258Gln) c.698T>A (p.Leu233Gln) c.641T>A (p.Leu214Gln) | |
3 | g.30671929T>C | CA351807781 | TGFBR2 | c.746T>C (p.Leu249Pro) n.2342T>C c.821T>C (p.Leu274Pro) c.773T>C (p.Leu258Pro) c.698T>C (p.Leu233Pro) c.641T>C (p.Leu214Pro) | |
3 | g.30671929T>G | CA351807782 | TGFBR2 | c.746T>G (p.Leu249Arg) n.2342T>G c.821T>G (p.Leu274Arg) c.773T>G (p.Leu258Arg) c.698T>G (p.Leu233Arg) c.641T>G (p.Leu214Arg) | |
3 | g.30671930G>A | CA10587566 | TGFBR2 | c.747G>A (p.Leu249=) n.2343G>A c.822G>A (p.Leu274=) c.774G>A (p.Leu258=) c.699G>A (p.Leu233=) c.642G>A (p.Leu214=) | ClinVar dbSNP |
3 | g.30671930G>C | CA049797 | TGFBR2 | c.747G>C (p.Leu249=) n.2343G>C c.822G>C (p.Leu274=) c.774G>C (p.Leu258=) c.699G>C (p.Leu233=) c.642G>C (p.Leu214=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.30671930G= | CA1354873057 | TGFBR2 | c.747G= (p.Leu249=) n.2343G= c.822G= (p.Leu274=) c.774G= (p.Leu258=) c.699G= (p.Leu233=) c.642G= (p.Leu214=) | |
3 | g.30671930G>T | CA433058584 | TGFBR2 | c.747G>T (p.Leu249=) n.2343G>T c.822G>T (p.Leu274=) c.774G>T (p.Leu258=) c.699G>T (p.Leu233=) c.642G>T (p.Leu214=) | |
3 | g.30671931G>A | CA351807783 | TGFBR2 | c.748G>A (p.Val250Met) n.2344G>A c.823G>A (p.Val275Met) c.775G>A (p.Val259Met) c.700G>A (p.Val234Met) c.643G>A (p.Val215Met) | |
3 | g.30671931G>C | CA351807784 | TGFBR2 | c.748G>C (p.Val250Leu) n.2344G>C c.823G>C (p.Val275Leu) c.775G>C (p.Val259Leu) c.700G>C (p.Val234Leu) c.643G>C (p.Val215Leu) | dbSNP |
3 | g.30671931G= | CA1354873058 | TGFBR2 | c.748G= (p.Val250=) n.2344G= c.823G= (p.Val275=) c.775G= (p.Val259=) c.700G= (p.Val234=) c.643G= (p.Val215=) | |
3 | g.30671931G>T | CA351807785 | TGFBR2 | c.748G>T (p.Val250Leu) n.2344G>T c.823G>T (p.Val275Leu) c.775G>T (p.Val259Leu) c.700G>T (p.Val234Leu) c.643G>T (p.Val215Leu) | dbSNP |
3 | g.30671932T>A | CA351807786 | TGFBR2 | c.749T>A (p.Val250Glu) n.2345T>A c.824T>A (p.Val275Glu) c.776T>A (p.Val259Glu) c.701T>A (p.Val234Glu) c.644T>A (p.Val215Glu) | |
3 | g.30671932T>C | CA351807788 | TGFBR2 | c.749T>C (p.Val250Ala) n.2345T>C c.824T>C (p.Val275Ala) c.776T>C (p.Val259Ala) c.701T>C (p.Val234Ala) c.644T>C (p.Val215Ala) | |
3 | g.30671932T>G | CA351807787 | TGFBR2 | c.749T>G (p.Val250Gly) n.2345T>G c.824T>G (p.Val275Gly) c.776T>G (p.Val259Gly) c.701T>G (p.Val234Gly) c.644T>G (p.Val215Gly) | |
3 | g.30671933G>A | CA433058587 | TGFBR2 | c.750G>A (p.Val250=) n.2346G>A c.825G>A (p.Val275=) c.777G>A (p.Val259=) c.702G>A (p.Val234=) c.645G>A (p.Val215=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.30671933G>C | CA049810 | TGFBR2 | c.750G>C (p.Val250=) n.2346G>C c.825G>C (p.Val275=) c.777G>C (p.Val259=) c.702G>C (p.Val234=) c.645G>C (p.Val215=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.30671933G= | CA1354873059 | TGFBR2 | c.750G= (p.Val250=) n.2346G= c.825G= (p.Val275=) c.777G= (p.Val259=) c.702G= (p.Val234=) c.645G= (p.Val215=) | |
3 | g.30671933G>T | CA433058591 | TGFBR2 | c.750G>T (p.Val250=) n.2346G>T c.825G>T (p.Val275=) c.777G>T (p.Val259=) c.702G>T (p.Val234=) c.645G>T (p.Val215=) | |
3 | g.30671936del | CA433058594 | TGFBR2 | c.753del (p.Gly253ValfsTer11) n.2349del c.828del (p.Gly278ValfsTer11) c.780del (p.Gly262ValfsTer11) c.705del (p.Gly237ValfsTer11) c.648del (p.Gly218ValfsTer11) | |
3 | g.30671934G>A | CA351807789 | TGFBR2 | c.751G>A (p.Gly251Arg) n.2347G>A c.826G>A (p.Gly276Arg) c.778G>A (p.Gly260Arg) c.703G>A (p.Gly235Arg) c.646G>A (p.Gly216Arg) | COSMIC COSMIC |
3 | g.30671934G>C | CA351807790 | TGFBR2 | c.751G>C (p.Gly251Arg) n.2347G>C c.826G>C (p.Gly276Arg) c.778G>C (p.Gly260Arg) c.703G>C (p.Gly235Arg) c.646G>C (p.Gly216Arg) | gnomAD v4 |
3 | g.30671934G>T | CA351807791 | TGFBR2 | c.751G>T (p.Gly251Trp) n.2347G>T c.826G>T (p.Gly276Trp) c.778G>T (p.Gly260Trp) c.703G>T (p.Gly235Trp) c.646G>T (p.Gly216Trp) | |
3 | g.30671935G>A | CA351807792 | TGFBR2 | c.752G>A (p.Gly251Glu) n.2348G>A c.827G>A (p.Gly276Glu) c.779G>A (p.Gly260Glu) c.704G>A (p.Gly235Glu) c.647G>A (p.Gly216Glu) | dbSNP |
3 | g.30671935G>C | CA351807794 | TGFBR2 | c.752G>C (p.Gly251Ala) n.2348G>C c.827G>C (p.Gly276Ala) c.779G>C (p.Gly260Ala) c.704G>C (p.Gly235Ala) c.647G>C (p.Gly216Ala) | |
3 | g.30671935G>T | CA351807793 | TGFBR2 | c.752G>T (p.Gly251Val) n.2348G>T c.827G>T (p.Gly276Val) c.779G>T (p.Gly260Val) c.704G>T (p.Gly235Val) c.647G>T (p.Gly216Val) | |
3 | g.30671936G>A | CA433058596 | TGFBR2 | c.753G>A (p.Gly251=) n.2349G>A c.828G>A (p.Gly276=) c.780G>A (p.Gly260=) c.705G>A (p.Gly235=) c.648G>A (p.Gly216=) | ClinVar dbSNP |
3 | g.30671936G>C | CA433058598 | TGFBR2 | c.753G>C (p.Gly251=) n.2349G>C c.828G>C (p.Gly276=) c.780G>C (p.Gly260=) c.705G>C (p.Gly235=) c.648G>C (p.Gly216=) | |
3 | g.30671936G= | CA1354873060 | TGFBR2 | c.753G= (p.Gly251=) n.2349G= c.828G= (p.Gly276=) c.780G= (p.Gly260=) c.705G= (p.Gly235=) c.648G= (p.Gly216=) | |
3 | g.30671936G>T | CA049822 | TGFBR2 | c.753G>T (p.Gly251=) n.2349G>T c.828G>T (p.Gly276=) c.780G>T (p.Gly260=) c.705G>T (p.Gly235=) c.648G>T (p.Gly216=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.30671937A>C | CA351807795 | TGFBR2 | c.754A>C (p.Lys252Gln) n.2350A>C c.829A>C (p.Lys277Gln) c.781A>C (p.Lys261Gln) c.706A>C (p.Lys236Gln) c.649A>C (p.Lys217Gln) | gnomAD v4 |
3 | g.30671937A>G | CA351807796 | TGFBR2 | c.754A>G (p.Lys252Glu) n.2350A>G c.829A>G (p.Lys277Glu) c.781A>G (p.Lys261Glu) c.706A>G (p.Lys236Glu) c.649A>G (p.Lys217Glu) | |
3 | g.30671937A>T | CA351807797 | TGFBR2 | c.754A>T (p.Lys252Ter) n.2350A>T c.829A>T (p.Lys277Ter) c.781A>T (p.Lys261Ter) c.706A>T (p.Lys236Ter) c.649A>T (p.Lys217Ter) | |
3 | g.30671938A= | CA1354873061 | TGFBR2 | c.755A= (p.Lys252=) n.2351A= c.830A= (p.Lys277=) c.782A= (p.Lys261=) c.707A= (p.Lys236=) c.650A= (p.Lys217=) | |
3 | g.30671938A>C | CA351807798 | TGFBR2 | c.755A>C (p.Lys252Thr) n.2351A>C c.830A>C (p.Lys277Thr) c.782A>C (p.Lys261Thr) c.707A>C (p.Lys236Thr) c.650A>C (p.Lys217Thr) | |
3 | g.30671938A>G | CA351807799 | TGFBR2 | c.755A>G (p.Lys252Arg) n.2351A>G c.830A>G (p.Lys277Arg) c.782A>G (p.Lys261Arg) c.707A>G (p.Lys236Arg) c.650A>G (p.Lys217Arg) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.30671938A>T | CA351807800 | TGFBR2 | c.755A>T (p.Lys252Ile) n.2351A>T c.830A>T (p.Lys277Ile) c.782A>T (p.Lys261Ile) c.707A>T (p.Lys236Ile) c.650A>T (p.Lys217Ile) | |
3 | g.30671939A= | CA1354873062 | TGFBR2 | c.756A= (p.Lys252=) n.2352A= c.831A= (p.Lys277=) c.783A= (p.Lys261=) c.708A= (p.Lys236=) c.651A= (p.Lys217=) | |
3 | g.30671939A>C | CA351807801 | TGFBR2 | c.756A>C (p.Lys252Asn) n.2352A>C c.831A>C (p.Lys277Asn) c.783A>C (p.Lys261Asn) c.708A>C (p.Lys236Asn) c.651A>C (p.Lys217Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.30671939A>G | CA433058604 | TGFBR2 | c.756A>G (p.Lys252=) n.2352A>G c.831A>G (p.Lys277=) c.783A>G (p.Lys261=) c.708A>G (p.Lys236=) c.651A>G (p.Lys217=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.30671939A>T | CA351807802 | TGFBR2 | c.756A>T (p.Lys252Asn) n.2352A>T c.831A>T (p.Lys277Asn) c.783A>T (p.Lys261Asn) c.708A>T (p.Lys236Asn) c.651A>T (p.Lys217Asn) | |
3 | g.30671940G>A | CA351807803 | TGFBR2 | c.757G>A (p.Gly253Ser) n.2353G>A c.832G>A (p.Gly278Ser) c.784G>A (p.Gly262Ser) c.709G>A (p.Gly237Ser) c.652G>A (p.Gly218Ser) | ClinVar dbSNP |
3 | g.30671940G>C | CA351807804 | TGFBR2 | c.757G>C (p.Gly253Arg) n.2353G>C c.832G>C (p.Gly278Arg) c.784G>C (p.Gly262Arg) c.709G>C (p.Gly237Arg) c.652G>C (p.Gly218Arg) | |
3 | g.30671940G= | CA1354873063 | TGFBR2 | c.757G= (p.Gly253=) n.2353G= c.832G= (p.Gly278=) c.784G= (p.Gly262=) c.709G= (p.Gly237=) c.652G= (p.Gly218=) | |
3 | g.30671940G>T | CA351807805 | TGFBR2 | c.757G>T (p.Gly253Cys) n.2353G>T c.832G>T (p.Gly278Cys) c.784G>T (p.Gly262Cys) c.709G>T (p.Gly237Cys) c.652G>T (p.Gly218Cys) | |
3 | g.30671941G>A | CA351807806 | TGFBR2 | c.758G>A (p.Gly253Asp) n.2354G>A c.833G>A (p.Gly278Asp) c.785G>A (p.Gly262Asp) c.710G>A (p.Gly237Asp) c.653G>A (p.Gly218Asp) | |
3 | g.30671941G>C | CA351807808 | TGFBR2 | c.758G>C (p.Gly253Ala) n.2354G>C c.833G>C (p.Gly278Ala) c.785G>C (p.Gly262Ala) c.710G>C (p.Gly237Ala) c.653G>C (p.Gly218Ala) | dbSNP |
3 | g.30671941G= | CA1354873064 | TGFBR2 | c.758G= (p.Gly253=) n.2354G= c.833G= (p.Gly278=) c.785G= (p.Gly262=) c.710G= (p.Gly237=) c.653G= (p.Gly218=) | |
3 | g.30671941G>T | CA351807807 | TGFBR2 | c.758G>T (p.Gly253Val) n.2354G>T c.833G>T (p.Gly278Val) c.785G>T (p.Gly262Val) c.710G>T (p.Gly237Val) c.653G>T (p.Gly218Val) | ClinVar dbSNP |
3 | g.30671942T>A | CA433058609 | TGFBR2 | c.759T>A (p.Gly253=) n.2355T>A c.834T>A (p.Gly278=) c.786T>A (p.Gly262=) c.711T>A (p.Gly237=) c.654T>A (p.Gly218=) | |
3 | g.30671942T>C | CA433058611 | TGFBR2 | c.759T>C (p.Gly253=) n.2355T>C c.834T>C (p.Gly278=) c.786T>C (p.Gly262=) c.711T>C (p.Gly237=) c.654T>C (p.Gly218=) | gnomAD v4 |
3 | g.30671942T>G | CA433058613 | TGFBR2 | c.759T>G (p.Gly253=) n.2355T>G c.834T>G (p.Gly278=) c.786T>G (p.Gly262=) c.711T>G (p.Gly237=) c.654T>G (p.Gly218=) | |
3 | g.30671943C>A | CA351807809 | TGFBR2 | c.760C>A (p.Arg254Ser) n.2356C>A c.835C>A (p.Arg279Ser) c.787C>A (p.Arg263Ser) c.712C>A (p.Arg238Ser) c.655C>A (p.Arg219Ser) | |
3 | g.30671943C= | CA1354873065 | TGFBR2 | c.760C= (p.Arg254=) n.2356C= c.835C= (p.Arg279=) c.787C= (p.Arg263=) c.712C= (p.Arg238=) c.655C= (p.Arg219=) | |
3 | g.30671943C>G | CA351807810 | TGFBR2 | c.760C>G (p.Arg254Gly) n.2356C>G c.835C>G (p.Arg279Gly) c.787C>G (p.Arg263Gly) c.712C>G (p.Arg238Gly) c.655C>G (p.Arg219Gly) | |
3 | g.30671943C>T | CA323430 | TGFBR2 | c.760C>T (p.Arg254Cys) n.2356C>T c.835C>T (p.Arg279Cys) c.787C>T (p.Arg263Cys) c.712C>T (p.Arg238Cys) c.655C>T (p.Arg219Cys) | ClinVar dbSNP gnomAD v4 |
3 | g.30671944G>A | CA049848 | TGFBR2 | c.761G>A (p.Arg254His) n.2357G>A c.836G>A (p.Arg279His) c.788G>A (p.Arg263His) c.713G>A (p.Arg238His) c.656G>A (p.Arg219His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
3 | g.30671944G>C | CA351807811 | TGFBR2 | c.761G>C (p.Arg254Pro) n.2357G>C c.836G>C (p.Arg279Pro) c.788G>C (p.Arg263Pro) c.713G>C (p.Arg238Pro) c.656G>C (p.Arg219Pro) | |
3 | g.30671944G= | CA1354873066 | TGFBR2 | c.761G= (p.Arg254=) n.2357G= c.836G= (p.Arg279=) c.788G= (p.Arg263=) c.713G= (p.Arg238=) c.656G= (p.Arg219=) | |
3 | g.30671944G>T | CA351807812 | TGFBR2 | c.761G>T (p.Arg254Leu) n.2357G>T c.836G>T (p.Arg279Leu) c.788G>T (p.Arg263Leu) c.713G>T (p.Arg238Leu) c.656G>T (p.Arg219Leu) | dbSNP |
3 | g.30671945C>A | CA433058618 | TGFBR2 | c.762C>A (p.Arg254=) n.2358C>A c.837C>A (p.Arg279=) c.789C>A (p.Arg263=) c.714C>A (p.Arg238=) c.657C>A (p.Arg219=) | |
3 | g.30671945C>G | CA433058620 | TGFBR2 | c.762C>G (p.Arg254=) n.2358C>G c.837C>G (p.Arg279=) c.789C>G (p.Arg263=) c.714C>G (p.Arg238=) c.657C>G (p.Arg219=) | |
3 | g.30671945C>T | CA433058623 | TGFBR2 | c.762C>T (p.Arg254=) n.2358C>T c.837C>T (p.Arg279=) c.789C>T (p.Arg263=) c.714C>T (p.Arg238=) c.657C>T (p.Arg219=) | |
3 | g.30671946T>A | CA351807813 | TGFBR2 | c.763T>A (p.Phe255Ile) n.2359T>A c.838T>A (p.Phe280Ile) c.790T>A (p.Phe264Ile) c.715T>A (p.Phe239Ile) c.658T>A (p.Phe220Ile) | |
3 | g.30671946T>C | CA351807814 | TGFBR2 | c.763T>C (p.Phe255Leu) n.2359T>C c.838T>C (p.Phe280Leu) c.790T>C (p.Phe264Leu) c.715T>C (p.Phe239Leu) c.658T>C (p.Phe220Leu) | |
3 | g.30671946T>G | CA351807815 | TGFBR2 | c.763T>G (p.Phe255Val) n.2359T>G c.838T>G (p.Phe280Val) c.790T>G (p.Phe264Val) c.715T>G (p.Phe239Val) c.658T>G (p.Phe220Val) | |
3 | g.30671947T>A | CA351807816 | TGFBR2 | c.764T>A (p.Phe255Tyr) n.2360T>A c.839T>A (p.Phe280Tyr) c.791T>A (p.Phe264Tyr) c.716T>A (p.Phe239Tyr) c.659T>A (p.Phe220Tyr) | |
3 | g.30671947T>C | CA351807817 | TGFBR2 | c.764T>C (p.Phe255Ser) n.2360T>C c.839T>C (p.Phe280Ser) c.791T>C (p.Phe264Ser) c.716T>C (p.Phe239Ser) c.659T>C (p.Phe220Ser) | |
3 | g.30671947T>G | CA351807818 | TGFBR2 | c.764T>G (p.Phe255Cys) n.2360T>G c.839T>G (p.Phe280Cys) c.791T>G (p.Phe264Cys) c.716T>G (p.Phe239Cys) c.659T>G (p.Phe220Cys) | |
3 | g.30671948T>A | CA351807819 | TGFBR2 | c.765T>A (p.Phe255Leu) n.2361T>A c.840T>A (p.Phe280Leu) c.792T>A (p.Phe264Leu) c.717T>A (p.Phe239Leu) c.660T>A (p.Phe220Leu) | |
3 | g.30671948T>C | CA433058626 | TGFBR2 | c.765T>C (p.Phe255=) n.2361T>C c.840T>C (p.Phe280=) c.792T>C (p.Phe264=) c.717T>C (p.Phe239=) c.660T>C (p.Phe220=) | |
3 | g.30671948T>G | CA351807820 | TGFBR2 | c.765T>G (p.Phe255Leu) n.2361T>G c.840T>G (p.Phe280Leu) c.792T>G (p.Phe264Leu) c.717T>G (p.Phe239Leu) c.660T>G (p.Phe220Leu) | |
3 | g.30671949G>A | CA351807823 | TGFBR2 | c.766G>A (p.Ala256Thr) n.2362G>A c.841G>A (p.Ala281Thr) c.793G>A (p.Ala265Thr) c.718G>A (p.Ala240Thr) c.661G>A (p.Ala221Thr) | dbSNP |
3 | g.30671949G>C | CA351807821 | TGFBR2 | c.766G>C (p.Ala256Pro) n.2362G>C c.841G>C (p.Ala281Pro) c.793G>C (p.Ala265Pro) c.718G>C (p.Ala240Pro) c.661G>C (p.Ala221Pro) | ClinVar |
3 | g.30671949G>T | CA351807822 | TGFBR2 | c.766G>T (p.Ala256Ser) n.2362G>T c.841G>T (p.Ala281Ser) c.793G>T (p.Ala265Ser) c.718G>T (p.Ala240Ser) c.661G>T (p.Ala221Ser) | |
3 | g.30671950C>A | CA351807824 | TGFBR2 | c.767C>A (p.Ala256Asp) n.2363C>A c.842C>A (p.Ala281Asp) c.794C>A (p.Ala265Asp) c.719C>A (p.Ala240Asp) c.662C>A (p.Ala221Asp) | dbSNP |
3 | g.30671950C>G | CA351807825 | TGFBR2 | c.767C>G (p.Ala256Gly) n.2363C>G c.842C>G (p.Ala281Gly) c.794C>G (p.Ala265Gly) c.719C>G (p.Ala240Gly) c.662C>G (p.Ala221Gly) | dbSNP |
3 | g.30671950C>T | CA351807826 | TGFBR2 | c.767C>T (p.Ala256Val) n.2363C>T c.842C>T (p.Ala281Val) c.794C>T (p.Ala265Val) c.719C>T (p.Ala240Val) c.662C>T (p.Ala221Val) | dbSNP |
3 | g.30671951T>A | CA433058632 | TGFBR2 | c.768T>A (p.Ala256=) n.2364T>A c.843T>A (p.Ala281=) c.795T>A (p.Ala265=) c.720T>A (p.Ala240=) c.663T>A (p.Ala221=) | |
3 | g.30671951T>C | CA433058634 | TGFBR2 | c.768T>C (p.Ala256=) n.2364T>C c.843T>C (p.Ala281=) c.795T>C (p.Ala265=) c.720T>C (p.Ala240=) c.663T>C (p.Ala221=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.30671951T>G | CA433058633 | TGFBR2 | c.768T>G (p.Ala256=) n.2364T>G c.843T>G (p.Ala281=) c.795T>G (p.Ala265=) c.720T>G (p.Ala240=) c.663T>G (p.Ala221=) | |
3 | g.30671951T= | CA1354873067 | TGFBR2 | c.768T= (p.Ala256=) n.2364T= c.843T= (p.Ala281=) c.795T= (p.Ala265=) c.720T= (p.Ala240=) c.663T= (p.Ala221=) | |
3 | g.30671951dup | CA2664867665 | TGFBR2 | c.768dup (p.Glu257Ter) n.2364dup c.843dup (p.Glu282Ter) c.795dup (p.Glu266Ter) c.720dup (p.Glu241Ter) c.663dup (p.Glu222Ter) | gnomAD v4 |
3 | g.30671952G>A | CA351807827 | TGFBR2 | c.769G>A (p.Glu257Lys) n.2365G>A c.844G>A (p.Glu282Lys) c.796G>A (p.Glu266Lys) c.721G>A (p.Glu241Lys) c.664G>A (p.Glu222Lys) | COSMIC COSMIC |
3 | g.30671952G>C | CA351807828 | TGFBR2 | c.769G>C (p.Glu257Gln) n.2365G>C c.844G>C (p.Glu282Gln) c.796G>C (p.Glu266Gln) c.721G>C (p.Glu241Gln) c.664G>C (p.Glu222Gln) | |
3 | g.30671952G>T | CA351807829 | TGFBR2 | c.769G>T (p.Glu257Ter) n.2365G>T c.844G>T (p.Glu282Ter) c.796G>T (p.Glu266Ter) c.721G>T (p.Glu241Ter) c.664G>T (p.Glu222Ter) | |
3 | g.30671953A>C | CA351807830 | TGFBR2 | c.770A>C (p.Glu257Ala) n.2366A>C c.845A>C (p.Glu282Ala) c.797A>C (p.Glu266Ala) c.722A>C (p.Glu241Ala) c.665A>C (p.Glu222Ala) | |
3 | g.30671953A>G | CA351807831 | TGFBR2 | c.770A>G (p.Glu257Gly) n.2366A>G c.845A>G (p.Glu282Gly) c.797A>G (p.Glu266Gly) c.722A>G (p.Glu241Gly) c.665A>G (p.Glu222Gly) | ClinVar dbSNP |
3 | g.30671953A>T | CA351807832 | TGFBR2 | c.770A>T (p.Glu257Val) n.2366A>T c.845A>T (p.Glu282Val) c.797A>T (p.Glu266Val) c.722A>T (p.Glu241Val) c.665A>T (p.Glu222Val) | |
3 | g.30671954G>A | CA433058636 | TGFBR2 | c.771G>A (p.Glu257=) n.2367G>A c.846G>A (p.Glu282=) c.798G>A (p.Glu266=) c.723G>A (p.Glu241=) c.666G>A (p.Glu222=) | |
3 | g.30671954G>C | CA351807833 | TGFBR2 | c.771G>C (p.Glu257Asp) n.2367G>C c.846G>C (p.Glu282Asp) c.798G>C (p.Glu266Asp) c.723G>C (p.Glu241Asp) c.666G>C (p.Glu222Asp) | COSMIC COSMIC |
3 | g.30671954G>T | CA351807834 | TGFBR2 | c.771G>T (p.Glu257Asp) n.2367G>T c.846G>T (p.Glu282Asp) c.798G>T (p.Glu266Asp) c.723G>T (p.Glu241Asp) c.666G>T (p.Glu222Asp) | |
3 | g.30671955G>A | CA351807836 | TGFBR2 | c.772G>A (p.Val258Ile) n.2368G>A c.847G>A (p.Val283Ile) c.799G>A (p.Val267Ile) c.724G>A (p.Val242Ile) c.667G>A (p.Val223Ile) | |
3 | g.30671955G>C | CA71528083 | TGFBR2 | c.772G>C (p.Val258Leu) n.2368G>C c.847G>C (p.Val283Leu) c.799G>C (p.Val267Leu) c.724G>C (p.Val242Leu) c.667G>C (p.Val223Leu) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.30671955G= | CA1354873068 | TGFBR2 | c.772G= (p.Val258=) n.2368G= c.847G= (p.Val283=) c.799G= (p.Val267=) c.724G= (p.Val242=) c.667G= (p.Val223=) | |
3 | g.30671955G>T | CA351807835 | TGFBR2 | c.772G>T (p.Val258Phe) n.2368G>T c.847G>T (p.Val283Phe) c.799G>T (p.Val267Phe) c.724G>T (p.Val242Phe) c.667G>T (p.Val223Phe) | |
3 | g.30671956T>A | CA351696 | TGFBR2 | c.773T>A (p.Val258Asp) n.2369T>A c.848T>A (p.Val283Asp) c.800T>A (p.Val267Asp) c.725T>A (p.Val242Asp) c.668T>A (p.Val223Asp) | ClinVar dbSNP |
3 | g.30671956T>C | CA351807837 | TGFBR2 | c.773T>C (p.Val258Ala) n.2369T>C c.848T>C (p.Val283Ala) c.800T>C (p.Val267Ala) c.725T>C (p.Val242Ala) c.668T>C (p.Val223Ala) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.30671956T>G | CA351807838 | TGFBR2 | c.773T>G (p.Val258Gly) n.2369T>G c.848T>G (p.Val283Gly) c.800T>G (p.Val267Gly) c.725T>G (p.Val242Gly) c.668T>G (p.Val223Gly) | |
3 | g.30671956T= | CA1354873069 | TGFBR2 | c.773T= (p.Val258=) n.2369T= c.848T= (p.Val283=) c.800T= (p.Val267=) c.725T= (p.Val242=) c.668T= (p.Val223=) | |
3 | g.30671957C>A | CA433058643 | TGFBR2 | c.774C>A (p.Val258=) n.2370C>A c.849C>A (p.Val283=) c.801C>A (p.Val267=) c.726C>A (p.Val242=) c.669C>A (p.Val223=) | |
3 | g.30671957C>G | CA433058644 | TGFBR2 | c.774C>G (p.Val258=) n.2370C>G c.849C>G (p.Val283=) c.801C>G (p.Val267=) c.726C>G (p.Val242=) c.669C>G (p.Val223=) | dbSNP |
3 | g.30671957C>T | CA433058645 | TGFBR2 | c.774C>T (p.Val258=) n.2370C>T c.849C>T (p.Val283=) c.801C>T (p.Val267=) c.726C>T (p.Val242=) c.669C>T (p.Val223=) | dbSNP |
3 | g.30671958T>A | CA351807839 | TGFBR2 | c.775T>A (p.Tyr259Asn) n.2371T>A c.850T>A (p.Tyr284Asn) c.802T>A (p.Tyr268Asn) c.727T>A (p.Tyr243Asn) c.670T>A (p.Tyr224Asn) | |
3 | g.30671958T>C | CA049865 | TGFBR2 | c.775T>C (p.Tyr259His) n.2371T>C c.850T>C (p.Tyr284His) c.802T>C (p.Tyr268His) c.727T>C (p.Tyr243His) c.670T>C (p.Tyr224His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.30671958T>G | CA351807840 | TGFBR2 | c.775T>G (p.Tyr259Asp) n.2371T>G c.850T>G (p.Tyr284Asp) c.802T>G (p.Tyr268Asp) c.727T>G (p.Tyr243Asp) c.670T>G (p.Tyr224Asp) | COSMIC COSMIC |
3 | g.30671958T= | CA1354873070 | TGFBR2 | c.775T= (p.Tyr259=) n.2371T= c.850T= (p.Tyr284=) c.802T= (p.Tyr268=) c.727T= (p.Tyr243=) c.670T= (p.Tyr224=) | |
3 | g.30671959A= | CA1354873071 | TGFBR2 | c.776A= (p.Tyr259=) n.2372A= c.851A= (p.Tyr284=) c.803A= (p.Tyr268=) c.728A= (p.Tyr243=) c.671A= (p.Tyr224=) | |
3 | g.30671959A>C | CA351807842 | TGFBR2 | c.776A>C (p.Tyr259Ser) n.2372A>C c.851A>C (p.Tyr284Ser) c.803A>C (p.Tyr268Ser) c.728A>C (p.Tyr243Ser) c.671A>C (p.Tyr224Ser) | |
3 | g.30671959A>G | CA049882 | TGFBR2 | c.776A>G (p.Tyr259Cys) n.2372A>G c.851A>G (p.Tyr284Cys) c.803A>G (p.Tyr268Cys) c.728A>G (p.Tyr243Cys) c.671A>G (p.Tyr224Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.30671959A>T | CA351807841 | TGFBR2 | c.776A>T (p.Tyr259Phe) n.2372A>T c.851A>T (p.Tyr284Phe) c.803A>T (p.Tyr268Phe) c.728A>T (p.Tyr243Phe) c.671A>T (p.Tyr224Phe) | |
3 | g.30671960T>A | CA351807843 | TGFBR2 | c.777T>A (p.Tyr259Ter) n.2373T>A c.852T>A (p.Tyr284Ter) c.804T>A (p.Tyr268Ter) c.729T>A (p.Tyr243Ter) c.672T>A (p.Tyr224Ter) | gnomAD v4 |
3 | g.30671960T>C | CA433058650 | TGFBR2 | c.777T>C (p.Tyr259=) n.2373T>C c.852T>C (p.Tyr284=) c.804T>C (p.Tyr268=) c.729T>C (p.Tyr243=) c.672T>C (p.Tyr224=) | |
3 | g.30671960T>G | CA351807844 | TGFBR2 | c.777T>G (p.Tyr259Ter) n.2373T>G c.852T>G (p.Tyr284Ter) c.804T>G (p.Tyr268Ter) c.729T>G (p.Tyr243Ter) c.672T>G (p.Tyr224Ter) | |
3 | g.30671961A>C | CA351807845 | TGFBR2 | c.778A>C (p.Lys260Gln) n.2374A>C c.853A>C (p.Lys285Gln) c.805A>C (p.Lys269Gln) c.730A>C (p.Lys244Gln) c.673A>C (p.Lys225Gln) | |
3 | g.30671961A>G | CA351807846 | TGFBR2 | c.778A>G (p.Lys260Glu) n.2374A>G c.853A>G (p.Lys285Glu) c.805A>G (p.Lys269Glu) c.730A>G (p.Lys244Glu) c.673A>G (p.Lys225Glu) | |
3 | g.30671961A>T | CA351807847 | TGFBR2 | c.778A>T (p.Lys260Ter) n.2374A>T c.853A>T (p.Lys285Ter) c.805A>T (p.Lys269Ter) c.730A>T (p.Lys244Ter) c.673A>T (p.Lys225Ter) | |
3 | g.30671962A>C | CA351807848 | TGFBR2 | c.779A>C (p.Lys260Thr) n.2375A>C c.854A>C (p.Lys285Thr) c.806A>C (p.Lys269Thr) c.731A>C (p.Lys244Thr) c.674A>C (p.Lys225Thr) | |
3 | g.30671962A>G | CA351807850 | TGFBR2 | c.779A>G (p.Lys260Arg) n.2375A>G c.854A>G (p.Lys285Arg) c.806A>G (p.Lys269Arg) c.731A>G (p.Lys244Arg) c.674A>G (p.Lys225Arg) | ClinVar |
3 | g.30671962A>T | CA351807849 | TGFBR2 | c.779A>T (p.Lys260Met) n.2375A>T c.854A>T (p.Lys285Met) c.806A>T (p.Lys269Met) c.731A>T (p.Lys244Met) c.674A>T (p.Lys225Met) | dbSNP |
3 | g.30671963G>A | CA433058654 | TGFBR2 | c.780G>A (p.Lys260=) n.2376G>A c.855G>A (p.Lys285=) c.807G>A (p.Lys269=) c.732G>A (p.Lys244=) c.675G>A (p.Lys225=) | dbSNP |
3 | g.30671963G>C | CA351807851 | TGFBR2 | c.780G>C (p.Lys260Asn) n.2376G>C c.855G>C (p.Lys285Asn) c.807G>C (p.Lys269Asn) c.732G>C (p.Lys244Asn) c.675G>C (p.Lys225Asn) | |
3 | g.30671963G>T | CA351807852 | TGFBR2 | c.780G>T (p.Lys260Asn) n.2376G>T c.855G>T (p.Lys285Asn) c.807G>T (p.Lys269Asn) c.732G>T (p.Lys244Asn) c.675G>T (p.Lys225Asn) | |
3 | g.30671964G>A | CA351807853 | TGFBR2 | c.781G>A (p.Ala261Thr) n.2377G>A c.856G>A (p.Ala286Thr) c.808G>A (p.Ala270Thr) c.733G>A (p.Ala245Thr) c.676G>A (p.Ala226Thr) | dbSNP |
3 | g.30671964G>C | CA351807854 | TGFBR2 | c.781G>C (p.Ala261Pro) n.2377G>C c.856G>C (p.Ala286Pro) c.808G>C (p.Ala270Pro) c.733G>C (p.Ala245Pro) c.676G>C (p.Ala226Pro) | dbSNP |
3 | g.30671964G>T | CA351807855 | TGFBR2 | c.781G>T (p.Ala261Ser) n.2377G>T c.856G>T (p.Ala286Ser) c.808G>T (p.Ala270Ser) c.733G>T (p.Ala245Ser) c.676G>T (p.Ala226Ser) | |
3 | g.30671965C>A | CA351807856 | TGFBR2 | c.782C>A (p.Ala261Asp) n.2378C>A c.857C>A (p.Ala286Asp) c.809C>A (p.Ala270Asp) c.734C>A (p.Ala245Asp) c.677C>A (p.Ala226Asp) | dbSNP |
3 | g.30671965C= | CA1354873072 | TGFBR2 | c.782C= (p.Ala261=) n.2378C= c.857C= (p.Ala286=) c.809C= (p.Ala270=) c.734C= (p.Ala245=) c.677C= (p.Ala226=) | |
3 | g.30671965C>G | CA351807857 | TGFBR2 | c.782C>G (p.Ala261Gly) n.2378C>G c.857C>G (p.Ala286Gly) c.809C>G (p.Ala270Gly) c.734C>G (p.Ala245Gly) c.677C>G (p.Ala226Gly) | dbSNP |
3 | g.30671965C>T | CA351807858 | TGFBR2 | c.782C>T (p.Ala261Val) n.2378C>T c.857C>T (p.Ala286Val) c.809C>T (p.Ala270Val) c.734C>T (p.Ala245Val) c.677C>T (p.Ala226Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.30671966C>A | CA433058655 | TGFBR2 | c.783C>A (p.Ala261=) n.2379C>A c.858C>A (p.Ala286=) c.810C>A (p.Ala270=) c.735C>A (p.Ala245=) c.678C>A (p.Ala226=) | dbSNP |
3 | g.30671966C>G | CA433058656 | TGFBR2 | c.783C>G (p.Ala261=) n.2379C>G c.858C>G (p.Ala286=) c.810C>G (p.Ala270=) c.735C>G (p.Ala245=) c.678C>G (p.Ala226=) | |
3 | g.30671966C>T | CA433058657 | TGFBR2 | c.783C>T (p.Ala261=) n.2379C>T c.858C>T (p.Ala286=) c.810C>T (p.Ala270=) c.735C>T (p.Ala245=) c.678C>T (p.Ala226=) | dbSNP |
3 | g.30671967A>C | CA351807859 | TGFBR2 | c.784A>C (p.Lys262Gln) n.2380A>C c.859A>C (p.Lys287Gln) c.811A>C (p.Lys271Gln) c.736A>C (p.Lys246Gln) c.679A>C (p.Lys227Gln) | |
3 | g.30671967A>G | CA351807860 | TGFBR2 | c.784A>G (p.Lys262Glu) n.2380A>G c.859A>G (p.Lys287Glu) c.811A>G (p.Lys271Glu) c.736A>G (p.Lys246Glu) c.679A>G (p.Lys227Glu) | |
3 | g.30671967A>T | CA351807861 | TGFBR2 | c.784A>T (p.Lys262Ter) n.2380A>T c.859A>T (p.Lys287Ter) c.811A>T (p.Lys271Ter) c.736A>T (p.Lys246Ter) c.679A>T (p.Lys227Ter) | dbSNP |
3 | g.30671968A>C | CA351807864 | TGFBR2 | c.785A>C (p.Lys262Thr) n.2381A>C c.860A>C (p.Lys287Thr) c.812A>C (p.Lys271Thr) c.737A>C (p.Lys246Thr) c.680A>C (p.Lys227Thr) | |
3 | g.30671968A>G | CA351807863 | TGFBR2 | c.785A>G (p.Lys262Arg) n.2381A>G c.860A>G (p.Lys287Arg) c.812A>G (p.Lys271Arg) c.737A>G (p.Lys246Arg) c.680A>G (p.Lys227Arg) | |
3 | g.30671968A>T | CA351807862 | TGFBR2 | c.785A>T (p.Lys262Met) n.2381A>T c.860A>T (p.Lys287Met) c.812A>T (p.Lys271Met) c.737A>T (p.Lys246Met) c.680A>T (p.Lys227Met) | |
3 | g.30671969G>A | CA433058665 | TGFBR2 | c.786G>A (p.Lys262=) n.2382G>A c.861G>A (p.Lys287=) c.813G>A (p.Lys271=) c.738G>A (p.Lys246=) c.681G>A (p.Lys227=) | ClinVar |
3 | g.30671969G>C | CA351807865 | TGFBR2 | c.786G>C (p.Lys262Asn) n.2382G>C c.861G>C (p.Lys287Asn) c.813G>C (p.Lys271Asn) c.738G>C (p.Lys246Asn) c.681G>C (p.Lys227Asn) | COSMIC |
3 | g.30671969G>T | CA351807866 | TGFBR2 | c.786G>T (p.Lys262Asn) n.2382G>T c.861G>T (p.Lys287Asn) c.813G>T (p.Lys271Asn) c.738G>T (p.Lys246Asn) c.681G>T (p.Lys227Asn) | |
3 | g.30671970C>A | CA351807867 | TGFBR2 | c.787C>A (p.Leu263Met) n.2383C>A c.862C>A (p.Leu288Met) c.814C>A (p.Leu272Met) c.739C>A (p.Leu247Met) c.682C>A (p.Leu228Met) | |
3 | g.30671970C>G | CA351807868 | TGFBR2 | c.787C>G (p.Leu263Val) n.2383C>G c.862C>G (p.Leu288Val) c.814C>G (p.Leu272Val) c.739C>G (p.Leu247Val) c.682C>G (p.Leu228Val) | gnomAD v4 |
3 | g.30671970C>T | CA433058670 | TGFBR2 | c.787C>T (p.Leu263=) n.2383C>T c.862C>T (p.Leu288=) c.814C>T (p.Leu272=) c.739C>T (p.Leu247=) c.682C>T (p.Leu228=) | |
3 | g.30671971T>A | CA351807869 | TGFBR2 | c.788T>A (p.Leu263Gln) n.2384T>A c.863T>A (p.Leu288Gln) c.815T>A (p.Leu272Gln) c.740T>A (p.Leu247Gln) c.683T>A (p.Leu228Gln) | |
3 | g.30671971T>C | CA351807870 | TGFBR2 | c.788T>C (p.Leu263Pro) n.2384T>C c.863T>C (p.Leu288Pro) c.815T>C (p.Leu272Pro) c.740T>C (p.Leu247Pro) c.683T>C (p.Leu228Pro) | |
3 | g.30671971T>G | CA351807871 | TGFBR2 | c.788T>G (p.Leu263Arg) n.2384T>G c.863T>G (p.Leu288Arg) c.815T>G (p.Leu272Arg) c.740T>G (p.Leu247Arg) c.683T>G (p.Leu228Arg) | |
3 | g.30671972G>A | CA433058673 | TGFBR2 | c.789G>A (p.Leu263=) n.2385G>A c.864G>A (p.Leu288=) c.816G>A (p.Leu272=) c.741G>A (p.Leu247=) c.684G>A (p.Leu228=) | dbSNP gnomAD v4 COSMIC |
3 | g.30671972G>C | CA433058672 | TGFBR2 | c.789G>C (p.Leu263=) n.2385G>C c.864G>C (p.Leu288=) c.816G>C (p.Leu272=) c.741G>C (p.Leu247=) c.684G>C (p.Leu228=) | |
3 | g.30671972G>T | CA433058671 | TGFBR2 | c.789G>T (p.Leu263=) n.2385G>T c.864G>T (p.Leu288=) c.816G>T (p.Leu272=) c.741G>T (p.Leu247=) c.684G>T (p.Leu228=) | dbSNP |
3 | g.30671973A>C | CA351807872 | TGFBR2 | c.790A>C (p.Lys264Gln) n.2386A>C c.865A>C (p.Lys289Gln) c.817A>C (p.Lys273Gln) c.742A>C (p.Lys248Gln) c.685A>C (p.Lys229Gln) | gnomAD v4 |
3 | g.30671973A>G | CA351807873 | TGFBR2 | c.790A>G (p.Lys264Glu) n.2386A>G c.865A>G (p.Lys289Glu) c.817A>G (p.Lys273Glu) c.742A>G (p.Lys248Glu) c.685A>G (p.Lys229Glu) | |
3 | g.30671973A>T | CA351807874 | TGFBR2 | c.790A>T (p.Lys264Ter) n.2386A>T c.865A>T (p.Lys289Ter) c.817A>T (p.Lys273Ter) c.742A>T (p.Lys248Ter) c.685A>T (p.Lys229Ter) | |
3 | g.30671974A= | CA1354873073 | TGFBR2 | c.791A= (p.Lys264=) n.2387A= c.866A= (p.Lys289=) c.818A= (p.Lys273=) c.743A= (p.Lys248=) c.686A= (p.Lys229=) | |
3 | g.30671974A>C | CA71528114 | TGFBR2 | c.791A>C (p.Lys264Thr) n.2387A>C c.866A>C (p.Lys289Thr) c.818A>C (p.Lys273Thr) c.743A>C (p.Lys248Thr) c.686A>C (p.Lys229Thr) | dbSNP |
3 | g.30671974A>G | CA351807875 | TGFBR2 | c.791A>G (p.Lys264Arg) n.2387A>G c.866A>G (p.Lys289Arg) c.818A>G (p.Lys273Arg) c.743A>G (p.Lys248Arg) c.686A>G (p.Lys229Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.30671974A>T | CA351807876 | TGFBR2 | c.791A>T (p.Lys264Met) n.2387A>T c.866A>T (p.Lys289Met) c.818A>T (p.Lys273Met) c.743A>T (p.Lys248Met) c.686A>T (p.Lys229Met) | |
3 | g.30671975G>A | CA433058677 | TGFBR2 | c.792G>A (p.Lys264=) n.2388G>A c.867G>A (p.Lys289=) c.819G>A (p.Lys273=) c.744G>A (p.Lys248=) c.687G>A (p.Lys229=) | dbSNP |
3 | g.30671975G>C | CA351807877 | TGFBR2 | c.792G>C (p.Lys264Asn) n.2388G>C c.867G>C (p.Lys289Asn) c.819G>C (p.Lys273Asn) c.744G>C (p.Lys248Asn) c.687G>C (p.Lys229Asn) | dbSNP |
3 | g.30671975G>T | CA351807878 | TGFBR2 | c.792G>T (p.Lys264Asn) n.2388G>T c.867G>T (p.Lys289Asn) c.819G>T (p.Lys273Asn) c.744G>T (p.Lys248Asn) c.687G>T (p.Lys229Asn) | |
3 | g.30671976C>A | CA351807879 | TGFBR2 | c.793C>A (p.Gln265Lys) n.2389C>A c.868C>A (p.Gln290Lys) c.820C>A (p.Gln274Lys) c.745C>A (p.Gln249Lys) c.688C>A (p.Gln230Lys) | dbSNP |
3 | g.30671976C>G | CA351807880 | TGFBR2 | c.793C>G (p.Gln265Glu) n.2389C>G c.868C>G (p.Gln290Glu) c.820C>G (p.Gln274Glu) c.745C>G (p.Gln249Glu) c.688C>G (p.Gln230Glu) | ClinVar dbSNP |
3 | g.30671976C>T | CA351807881 | TGFBR2 | c.793C>T (p.Gln265Ter) n.2389C>T c.868C>T (p.Gln290Ter) c.820C>T (p.Gln274Ter) c.745C>T (p.Gln249Ter) c.688C>T (p.Gln230Ter) | COSMIC COSMIC |
3 | g.30671977A>C | CA351807884 | TGFBR2 | c.794A>C (p.Gln265Pro) n.2390A>C c.869A>C (p.Gln290Pro) c.821A>C (p.Gln274Pro) c.746A>C (p.Gln249Pro) c.689A>C (p.Gln230Pro) | |
3 | g.30671977A>G | CA351807882 | TGFBR2 | c.794A>G (p.Gln265Arg) n.2390A>G c.869A>G (p.Gln290Arg) c.821A>G (p.Gln274Arg) c.746A>G (p.Gln249Arg) c.689A>G (p.Gln230Arg) | |
3 | g.30671977A>T | CA351807883 | TGFBR2 | c.794A>T (p.Gln265Leu) n.2390A>T c.869A>T (p.Gln290Leu) c.821A>T (p.Gln274Leu) c.746A>T (p.Gln249Leu) c.689A>T (p.Gln230Leu) | dbSNP |
3 | g.30671978G>A | CA433058683 | TGFBR2 | c.795G>A (p.Gln265=) n.2391G>A c.870G>A (p.Gln290=) c.822G>A (p.Gln274=) c.747G>A (p.Gln249=) c.690G>A (p.Gln230=) | dbSNP |
3 | g.30671978G>C | CA351807885 | TGFBR2 | c.795G>C (p.Gln265His) n.2391G>C c.870G>C (p.Gln290His) c.822G>C (p.Gln274His) c.747G>C (p.Gln249His) c.690G>C (p.Gln230His) | ClinVar dbSNP gnomAD v4 |
3 | g.30671978G= | CA1354873074 | TGFBR2 | c.795G= (p.Gln265=) n.2391G= c.870G= (p.Gln290=) c.822G= (p.Gln274=) c.747G= (p.Gln249=) c.690G= (p.Gln230=) | |
3 | g.30671978G>T | CA351807886 | TGFBR2 | c.795G>T (p.Gln265His) n.2391G>T c.870G>T (p.Gln290His) c.822G>T (p.Gln274His) c.747G>T (p.Gln249His) c.690G>T (p.Gln230His) | ClinVar dbSNP COSMIC COSMIC |
3 | g.30671979A>C | CA351807887 | TGFBR2 | c.796A>C (p.Asn266His) n.2392A>C c.871A>C (p.Asn291His) c.823A>C (p.Asn275His) c.748A>C (p.Asn250His) c.691A>C (p.Asn231His) | |
3 | g.30671979A>G | CA351807888 | TGFBR2 | c.796A>G (p.Asn266Asp) n.2392A>G c.871A>G (p.Asn291Asp) c.823A>G (p.Asn275Asp) c.748A>G (p.Asn250Asp) c.691A>G (p.Asn231Asp) | |
3 | g.30671979A>T | CA351807889 | TGFBR2 | c.796A>T (p.Asn266Tyr) n.2392A>T c.871A>T (p.Asn291Tyr) c.823A>T (p.Asn275Tyr) c.748A>T (p.Asn250Tyr) c.691A>T (p.Asn231Tyr) | |
3 | g.30671980A= | CA1354873075 | TGFBR2 | c.797A= (p.Asn266=) n.2393A= c.872A= (p.Asn291=) c.824A= (p.Asn275=) c.749A= (p.Asn250=) c.692A= (p.Asn231=) | |
3 | g.30671980A>C | CA351807890 | TGFBR2 | c.797A>C (p.Asn266Thr) n.2393A>C c.872A>C (p.Asn291Thr) c.824A>C (p.Asn275Thr) c.749A>C (p.Asn250Thr) c.692A>C (p.Asn231Thr) | |
3 | g.30671980A>G | CA049908 | TGFBR2 | c.797A>G (p.Asn266Ser) n.2393A>G c.872A>G (p.Asn291Ser) c.824A>G (p.Asn275Ser) c.749A>G (p.Asn250Ser) c.692A>G (p.Asn231Ser) | ClinVar dbSNP ExAC gnomAD v2 |
3 | g.30671980A>T | CA351807891 | TGFBR2 | c.797A>T (p.Asn266Ile) n.2393A>T c.872A>T (p.Asn291Ile) c.824A>T (p.Asn275Ile) c.749A>T (p.Asn250Ile) c.692A>T (p.Asn231Ile) | |
3 | g.30671981C>A | CA351807892 | TGFBR2 | c.798C>A (p.Asn266Lys) n.2394C>A c.873C>A (p.Asn291Lys) c.825C>A (p.Asn275Lys) c.750C>A (p.Asn250Lys) c.693C>A (p.Asn231Lys) | dbSNP |
3 | g.30671981C>G | CA351807893 | TGFBR2 | c.798C>G (p.Asn266Lys) n.2394C>G c.873C>G (p.Asn291Lys) c.825C>G (p.Asn275Lys) c.750C>G (p.Asn250Lys) c.693C>G (p.Asn231Lys) | |
3 | g.30671981C>T | CA433058692 | TGFBR2 | c.798C>T (p.Asn266=) n.2394C>T c.873C>T (p.Asn291=) c.825C>T (p.Asn275=) c.750C>T (p.Asn250=) c.693C>T (p.Asn231=) | ClinVar |
3 | g.30671982A= | CA1354873076 | TGFBR2 | c.799A= (p.Thr267=) n.2395A= c.874A= (p.Thr292=) c.826A= (p.Thr276=) c.751A= (p.Thr251=) c.694A= (p.Thr232=) | |
3 | g.30671982A>C | CA351807894 | TGFBR2 | c.799A>C (p.Thr267Pro) n.2395A>C c.874A>C (p.Thr292Pro) c.826A>C (p.Thr276Pro) c.751A>C (p.Thr251Pro) c.694A>C (p.Thr232Pro) | |
3 | g.30671982A>G | CA351807895 | TGFBR2 | c.799A>G (p.Thr267Ala) n.2395A>G c.874A>G (p.Thr292Ala) c.826A>G (p.Thr276Ala) c.751A>G (p.Thr251Ala) c.694A>G (p.Thr232Ala) | dbSNP |
3 | g.30671982A>T | CA351807896 | TGFBR2 | c.799A>T (p.Thr267Ser) n.2395A>T c.874A>T (p.Thr292Ser) c.826A>T (p.Thr276Ser) c.751A>T (p.Thr251Ser) c.694A>T (p.Thr232Ser) | dbSNP gnomAD v4 |
3 | g.30671983C>A | CA351807897 | TGFBR2 | c.800C>A (p.Thr267Asn) n.2396C>A c.875C>A (p.Thr292Asn) c.827C>A (p.Thr276Asn) c.752C>A (p.Thr251Asn) c.695C>A (p.Thr232Asn) | dbSNP |
3 | g.30671983C= | CA1354873077 | TGFBR2 | c.800C= (p.Thr267=) n.2396C= c.875C= (p.Thr292=) c.827C= (p.Thr276=) c.752C= (p.Thr251=) c.695C= (p.Thr232=) | |
3 | g.30671983C>G | CA351807898 | TGFBR2 | c.800C>G (p.Thr267Ser) n.2396C>G c.875C>G (p.Thr292Ser) c.827C>G (p.Thr276Ser) c.752C>G (p.Thr251Ser) c.695C>G (p.Thr232Ser) | dbSNP |
3 | g.30671983C>T | CA71528125 | TGFBR2 | c.800C>T (p.Thr267Ile) n.2396C>T c.875C>T (p.Thr292Ile) c.827C>T (p.Thr276Ile) c.752C>T (p.Thr251Ile) c.695C>T (p.Thr232Ile) | dbSNP |
3 | g.30671984T>A | CA433058698 | TGFBR2 | c.801T>A (p.Thr267=) n.2397T>A c.876T>A (p.Thr292=) c.828T>A (p.Thr276=) c.753T>A (p.Thr251=) c.696T>A (p.Thr232=) | ClinVar gnomAD v4 |
3 | g.30671984T>C | CA433058699 | TGFBR2 | c.801T>C (p.Thr267=) n.2397T>C c.876T>C (p.Thr292=) c.828T>C (p.Thr276=) c.753T>C (p.Thr251=) c.696T>C (p.Thr232=) | gnomAD v4 |
3 | g.30671984T>G | CA433058702 | TGFBR2 | c.801T>G (p.Thr267=) n.2397T>G c.876T>G (p.Thr292=) c.828T>G (p.Thr276=) c.753T>G (p.Thr251=) c.696T>G (p.Thr232=) | |
3 | g.30671985T>A | CA351807899 | TGFBR2 | c.802T>A (p.Ser268Thr) n.2398T>A c.877T>A (p.Ser293Thr) c.829T>A (p.Ser277Thr) c.754T>A (p.Ser252Thr) c.697T>A (p.Ser233Thr) | |
3 | g.30671985T>C | CA351807900 | TGFBR2 | c.802T>C (p.Ser268Pro) n.2398T>C c.877T>C (p.Ser293Pro) c.829T>C (p.Ser277Pro) c.754T>C (p.Ser252Pro) c.697T>C (p.Ser233Pro) | |
3 | g.30671985T>G | CA351807901 | TGFBR2 | c.802T>G (p.Ser268Ala) n.2398T>G c.877T>G (p.Ser293Ala) c.829T>G (p.Ser277Ala) c.754T>G (p.Ser252Ala) c.697T>G (p.Ser233Ala) | |
3 | g.30671986C>A | CA351807902 | TGFBR2 | c.803C>A (p.Ser268Ter) n.2399C>A c.878C>A (p.Ser293Ter) c.830C>A (p.Ser277Ter) c.755C>A (p.Ser252Ter) c.698C>A (p.Ser233Ter) | dbSNP |
3 | g.30671986C= | CA1354873078 | TGFBR2 | c.803C= (p.Ser268=) n.2399C= c.878C= (p.Ser293=) c.830C= (p.Ser277=) c.755C= (p.Ser252=) c.698C= (p.Ser233=) | |
3 | g.30671986C>G | CA351807903 | TGFBR2 | c.803C>G (p.Ser268Ter) n.2399C>G c.878C>G (p.Ser293Ter) c.830C>G (p.Ser277Ter) c.755C>G (p.Ser252Ter) c.698C>G (p.Ser233Ter) | dbSNP |
3 | g.30671986C>T | CA049919 | TGFBR2 | c.803C>T (p.Ser268Leu) n.2399C>T c.878C>T (p.Ser293Leu) c.830C>T (p.Ser277Leu) c.755C>T (p.Ser252Leu) c.698C>T (p.Ser233Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.30671987A>C | CA433058704 | TGFBR2 | c.804A>C (p.Ser268=) n.2400A>C c.879A>C (p.Ser293=) c.831A>C (p.Ser277=) c.756A>C (p.Ser252=) c.699A>C (p.Ser233=) | |
3 | g.30671987A>G | CA433058705 | TGFBR2 | c.804A>G (p.Ser268=) n.2400A>G c.879A>G (p.Ser293=) c.831A>G (p.Ser277=) c.756A>G (p.Ser252=) c.699A>G (p.Ser233=) | |
3 | g.30671987A>T | CA433058706 | TGFBR2 | c.804A>T (p.Ser268=) n.2400A>T c.879A>T (p.Ser293=) c.831A>T (p.Ser277=) c.756A>T (p.Ser252=) c.699A>T (p.Ser233=) | dbSNP |
3 | g.30671988G>A | CA351807904 | TGFBR2 | c.805G>A (p.Glu269Lys) n.2401G>A c.880G>A (p.Glu294Lys) c.832G>A (p.Glu278Lys) c.757G>A (p.Glu253Lys) c.700G>A (p.Glu234Lys) | dbSNP gnomAD v4 |
3 | g.30671988G>C | CA351807905 | TGFBR2 | c.805G>C (p.Glu269Gln) n.2401G>C c.880G>C (p.Glu294Gln) c.832G>C (p.Glu278Gln) c.757G>C (p.Glu253Gln) c.700G>C (p.Glu234Gln) | dbSNP |
3 | g.30671988G= | CA1354873079 | TGFBR2 | c.805G= (p.Glu269=) n.2401G= c.880G= (p.Glu294=) c.832G= (p.Glu278=) c.757G= (p.Glu253=) c.700G= (p.Glu234=) | |
3 | g.30671988G>T | CA351807906 | TGFBR2 | c.805G>T (p.Glu269Ter) n.2401G>T c.880G>T (p.Glu294Ter) c.832G>T (p.Glu278Ter) c.757G>T (p.Glu253Ter) c.700G>T (p.Glu234Ter) | ClinVar dbSNP gnomAD v4 |
3 | g.30671989A= | CA1354873080 | TGFBR2 | c.806A= (p.Glu269=) n.2402A= c.881A= (p.Glu294=) c.833A= (p.Glu278=) c.758A= (p.Glu253=) c.701A= (p.Glu234=) | |
3 | g.30671989A>C | CA351807907 | TGFBR2 | c.806A>C (p.Glu269Ala) n.2402A>C c.881A>C (p.Glu294Ala) c.833A>C (p.Glu278Ala) c.758A>C (p.Glu253Ala) c.701A>C (p.Glu234Ala) | |
3 | g.30671989A>G | CA351807908 | TGFBR2 | c.806A>G (p.Glu269Gly) n.2402A>G c.881A>G (p.Glu294Gly) c.833A>G (p.Glu278Gly) c.758A>G (p.Glu253Gly) c.701A>G (p.Glu234Gly) | dbSNP gnomAD v4 |
3 | g.30671989A>T | CA351807909 | TGFBR2 | c.806A>T (p.Glu269Val) n.2402A>T c.881A>T (p.Glu294Val) c.833A>T (p.Glu278Val) c.758A>T (p.Glu253Val) c.701A>T (p.Glu234Val) | dbSNP |
3 | g.30671990G>A | CA433058711 | TGFBR2 | c.807G>A (p.Glu269=) n.2403G>A c.882G>A (p.Glu294=) c.834G>A (p.Glu278=) c.759G>A (p.Glu253=) c.702G>A (p.Glu234=) | dbSNP |
3 | g.30671990G>C | CA351807911 | TGFBR2 | c.807G>C (p.Glu269Asp) n.2403G>C c.882G>C (p.Glu294Asp) c.834G>C (p.Glu278Asp) c.759G>C (p.Glu253Asp) c.702G>C (p.Glu234Asp) | dbSNP |
3 | g.30671990G= | CA1354873081 | TGFBR2 | c.807G= (p.Glu269=) n.2403G= c.882G= (p.Glu294=) c.834G= (p.Glu278=) c.759G= (p.Glu253=) c.702G= (p.Glu234=) | |
3 | g.30671990G>T | CA351807910 | TGFBR2 | c.807G>T (p.Glu269Asp) n.2403G>T c.882G>T (p.Glu294Asp) c.834G>T (p.Glu278Asp) c.759G>T (p.Glu253Asp) c.702G>T (p.Glu234Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.30671991C>A | CA351807912 | TGFBR2 | c.808C>A (p.Gln270Lys) n.2404C>A c.883C>A (p.Gln295Lys) c.835C>A (p.Gln279Lys) c.760C>A (p.Gln254Lys) c.703C>A (p.Gln235Lys) | dbSNP |
3 | g.30671991C>G | CA351807913 | TGFBR2 | c.808C>G (p.Gln270Glu) n.2404C>G c.883C>G (p.Gln295Glu) c.835C>G (p.Gln279Glu) c.760C>G (p.Gln254Glu) c.703C>G (p.Gln235Glu) | dbSNP |
3 | g.30671991C>T | CA351807914 | TGFBR2 | c.808C>T (p.Gln270Ter) n.2404C>T c.883C>T (p.Gln295Ter) c.835C>T (p.Gln279Ter) c.760C>T (p.Gln254Ter) c.703C>T (p.Gln235Ter) | dbSNP |
3 | g.30671992A= | CA1354873082 | TGFBR2 | c.809A= (p.Gln270=) n.2405A= c.884A= (p.Gln295=) c.836A= (p.Gln279=) c.761A= (p.Gln254=) c.704A= (p.Gln235=) | |
3 | g.30671992A>C | CA351807915 | TGFBR2 | c.809A>C (p.Gln270Pro) n.2405A>C c.884A>C (p.Gln295Pro) c.836A>C (p.Gln279Pro) c.761A>C (p.Gln254Pro) c.704A>C (p.Gln235Pro) | |
3 | g.30671992A>G | CA351807916 | TGFBR2 | c.809A>G (p.Gln270Arg) n.2405A>G c.884A>G (p.Gln295Arg) c.836A>G (p.Gln279Arg) c.761A>G (p.Gln254Arg) c.704A>G (p.Gln235Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.30671992A>T | CA351807917 | TGFBR2 | c.809A>T (p.Gln270Leu) n.2405A>T c.884A>T (p.Gln295Leu) c.836A>T (p.Gln279Leu) c.761A>T (p.Gln254Leu) c.704A>T (p.Gln235Leu) | dbSNP |
3 | g.30671993G>A | CA049934 | TGFBR2 | c.810G>A (p.Gln270=) n.2406G>A c.885G>A (p.Gln295=) c.837G>A (p.Gln279=) c.762G>A (p.Gln254=) c.705G>A (p.Gln235=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.30671993G>C | CA351807918 | TGFBR2 | c.810G>C (p.Gln270His) n.2406G>C c.885G>C (p.Gln295His) c.837G>C (p.Gln279His) c.762G>C (p.Gln254His) c.705G>C (p.Gln235His) | |
3 | g.30671993G= | CA1354873083 | TGFBR2 | c.810G= (p.Gln270=) n.2406G= c.885G= (p.Gln295=) c.837G= (p.Gln279=) c.762G= (p.Gln254=) c.705G= (p.Gln235=) | |
3 | g.30671993G>T | CA351807919 | TGFBR2 | c.810G>T (p.Gln270His) n.2406G>T c.885G>T (p.Gln295His) c.837G>T (p.Gln279His) c.762G>T (p.Gln254His) c.705G>T (p.Gln235His) | |
3 | g.30671994T>A | CA351807920 | TGFBR2 | c.811T>A (p.Phe271Ile) n.2407T>A c.886T>A (p.Phe296Ile) c.838T>A (p.Phe280Ile) c.763T>A (p.Phe255Ile) c.706T>A (p.Phe236Ile) | dbSNP gnomAD v4 |
3 | g.30671994T>C | CA351807921 | TGFBR2 | c.811T>C (p.Phe271Leu) n.2407T>C c.886T>C (p.Phe296Leu) c.838T>C (p.Phe280Leu) c.763T>C (p.Phe255Leu) c.706T>C (p.Phe236Leu) | |
3 | g.30671994T>G | CA351807922 | TGFBR2 | c.811T>G (p.Phe271Val) n.2407T>G c.886T>G (p.Phe296Val) c.838T>G (p.Phe280Val) c.763T>G (p.Phe255Val) c.706T>G (p.Phe236Val) | |
3 | g.30671995T>A | CA351807925 | TGFBR2 | c.812T>A (p.Phe271Tyr) n.2408T>A c.887T>A (p.Phe296Tyr) c.839T>A (p.Phe280Tyr) c.764T>A (p.Phe255Tyr) c.707T>A (p.Phe236Tyr) | |
3 | g.30671995T>C | CA351807924 | TGFBR2 | c.812T>C (p.Phe271Ser) n.2408T>C c.887T>C (p.Phe296Ser) c.839T>C (p.Phe280Ser) c.764T>C (p.Phe255Ser) c.707T>C (p.Phe236Ser) | |
3 | g.30671995T>G | CA351807923 | TGFBR2 | c.812T>G (p.Phe271Cys) n.2408T>G c.887T>G (p.Phe296Cys) c.839T>G (p.Phe280Cys) c.764T>G (p.Phe255Cys) c.707T>G (p.Phe236Cys) | |
3 | g.30671996T>A | CA351807926 | TGFBR2 | c.813T>A (p.Phe271Leu) n.2409T>A c.888T>A (p.Phe296Leu) c.840T>A (p.Phe280Leu) c.765T>A (p.Phe255Leu) c.708T>A (p.Phe236Leu) | |
3 | g.30671996T>C | CA433058724 | TGFBR2 | c.813T>C (p.Phe271=) n.2409T>C c.888T>C (p.Phe296=) c.840T>C (p.Phe280=) c.765T>C (p.Phe255=) c.708T>C (p.Phe236=) | dbSNP gnomAD v4 |
3 | g.30671996T>G | CA351807927 | TGFBR2 | c.813T>G (p.Phe271Leu) n.2409T>G c.888T>G (p.Phe296Leu) c.840T>G (p.Phe280Leu) c.765T>G (p.Phe255Leu) c.708T>G (p.Phe236Leu) | |
3 | g.30671997G>A | CA351807928 | TGFBR2 | c.814G>A (p.Glu272Lys) n.2410G>A c.889G>A (p.Glu297Lys) c.841G>A (p.Glu281Lys) c.766G>A (p.Glu256Lys) c.709G>A (p.Glu237Lys) | dbSNP |
3 | g.30671997G>C | CA351807929 | TGFBR2 | c.814G>C (p.Glu272Gln) n.2410G>C c.889G>C (p.Glu297Gln) c.841G>C (p.Glu281Gln) c.766G>C (p.Glu256Gln) c.709G>C (p.Glu237Gln) | dbSNP |
3 | g.30671997G>T | CA351807930 | TGFBR2 | c.814G>T (p.Glu272Ter) n.2410G>T c.889G>T (p.Glu297Ter) c.841G>T (p.Glu281Ter) c.766G>T (p.Glu256Ter) c.709G>T (p.Glu237Ter) | dbSNP |
3 | g.30671998A>C | CA351807931 | TGFBR2 | c.815A>C (p.Glu272Ala) n.2411A>C c.890A>C (p.Glu297Ala) c.842A>C (p.Glu281Ala) c.767A>C (p.Glu256Ala) c.710A>C (p.Glu237Ala) | |
3 | g.30671998A>G | CA351807932 | TGFBR2 | c.815A>G (p.Glu272Gly) n.2411A>G c.890A>G (p.Glu297Gly) c.842A>G (p.Glu281Gly) c.767A>G (p.Glu256Gly) c.710A>G (p.Glu237Gly) | dbSNP |
3 | g.30671998A>T | CA351807933 | TGFBR2 | c.815A>T (p.Glu272Val) n.2411A>T c.890A>T (p.Glu297Val) c.842A>T (p.Glu281Val) c.767A>T (p.Glu256Val) c.710A>T (p.Glu237Val) | dbSNP |
3 | g.30671999G>A | CA433058730 | TGFBR2 | c.816G>A (p.Glu272=) n.2412G>A c.891G>A (p.Glu297=) c.843G>A (p.Glu281=) c.768G>A (p.Glu256=) c.711G>A (p.Glu237=) | dbSNP |
3 | g.30671999G>C | CA351807935 | TGFBR2 | c.816G>C (p.Glu272Asp) n.2412G>C c.891G>C (p.Glu297Asp) c.843G>C (p.Glu281Asp) c.768G>C (p.Glu256Asp) c.711G>C (p.Glu237Asp) | dbSNP |
3 | g.30671999G>T | CA351807934 | TGFBR2 | c.816G>T (p.Glu272Asp) n.2412G>T c.891G>T (p.Glu297Asp) c.843G>T (p.Glu281Asp) c.768G>T (p.Glu256Asp) c.711G>T (p.Glu237Asp) | |
3 | g.30672000A>C | CA351807936 | TGFBR2 | c.817A>C (p.Thr273Pro) n.2413A>C c.892A>C (p.Thr298Pro) c.844A>C (p.Thr282Pro) c.769A>C (p.Thr257Pro) c.712A>C (p.Thr238Pro) | dbSNP |
3 | g.30672000A>G | CA351807937 | TGFBR2 | c.817A>G (p.Thr273Ala) n.2413A>G c.892A>G (p.Thr298Ala) c.844A>G (p.Thr282Ala) c.769A>G (p.Thr257Ala) c.712A>G (p.Thr238Ala) | |
3 | g.30672000A>T | CA351807938 | TGFBR2 | c.817A>T (p.Thr273Ser) n.2413A>T c.892A>T (p.Thr298Ser) c.844A>T (p.Thr282Ser) c.769A>T (p.Thr257Ser) c.712A>T (p.Thr238Ser) | |
3 | g.30672001C>A | CA351807939 | TGFBR2 | c.818C>A (p.Thr273Lys) n.2414C>A c.893C>A (p.Thr298Lys) c.845C>A (p.Thr282Lys) c.770C>A (p.Thr257Lys) c.713C>A (p.Thr238Lys) | dbSNP |
3 | g.30672001C= | CA1354873084 | TGFBR2 | c.818C= (p.Thr273=) n.2414C= c.893C= (p.Thr298=) c.845C= (p.Thr282=) c.770C= (p.Thr257=) c.713C= (p.Thr238=) | |
3 | g.30672001C>G | CA351807940 | TGFBR2 | c.818C>G (p.Thr273Arg) n.2414C>G c.893C>G (p.Thr298Arg) c.845C>G (p.Thr282Arg) c.770C>G (p.Thr257Arg) c.713C>G (p.Thr238Arg) | dbSNP |
3 | g.30672001C>T | CA351807941 | TGFBR2 | c.818C>T (p.Thr273Ile) n.2414C>T c.893C>T (p.Thr298Ile) c.845C>T (p.Thr282Ile) c.770C>T (p.Thr257Ile) c.713C>T (p.Thr238Ile) | dbSNP |
3 | g.30672002A>C | CA433058733 | TGFBR2 | c.819A>C (p.Thr273=) n.2415A>C c.894A>C (p.Thr298=) c.846A>C (p.Thr282=) c.771A>C (p.Thr257=) c.714A>C (p.Thr238=) | |
3 | g.30672002A>G | CA433058734 | TGFBR2 | c.819A>G (p.Thr273=) n.2415A>G c.894A>G (p.Thr298=) c.846A>G (p.Thr282=) c.771A>G (p.Thr257=) c.714A>G (p.Thr238=) | |
3 | g.30672002A>T | CA433058735 | TGFBR2 | c.819A>T (p.Thr273=) n.2415A>T c.894A>T (p.Thr298=) c.846A>T (p.Thr282=) c.771A>T (p.Thr257=) c.714A>T (p.Thr238=) | dbSNP |
3 | g.30672003G>A | CA351807942 | TGFBR2 | c.820G>A (p.Val274Met) n.2416G>A c.895G>A (p.Val299Met) c.847G>A (p.Val283Met) c.772G>A (p.Val258Met) c.715G>A (p.Val239Met) | dbSNP |
3 | g.30672003G>C | CA351807944 | TGFBR2 | c.820G>C (p.Val274Leu) n.2416G>C c.895G>C (p.Val299Leu) c.847G>C (p.Val283Leu) c.772G>C (p.Val258Leu) c.715G>C (p.Val239Leu) | dbSNP |
3 | g.30672003G>T | CA351807943 | TGFBR2 | c.820G>T (p.Val274Leu) n.2416G>T c.895G>T (p.Val299Leu) c.847G>T (p.Val283Leu) c.772G>T (p.Val258Leu) c.715G>T (p.Val239Leu) | |
3 | g.30672004T>A | CA351807945 | TGFBR2 | c.821T>A (p.Val274Glu) n.2417T>A c.896T>A (p.Val299Glu) c.848T>A (p.Val283Glu) c.773T>A (p.Val258Glu) c.716T>A (p.Val239Glu) | |
3 | g.30672004T>C | CA351807946 | TGFBR2 | c.821T>C (p.Val274Ala) n.2417T>C c.896T>C (p.Val299Ala) c.848T>C (p.Val283Ala) c.773T>C (p.Val258Ala) c.716T>C (p.Val239Ala) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.30672004T>G | CA351807947 | TGFBR2 | c.821T>G (p.Val274Gly) n.2417T>G c.896T>G (p.Val299Gly) c.848T>G (p.Val283Gly) c.773T>G (p.Val258Gly) c.716T>G (p.Val239Gly) | |
3 | g.30672004T= | CA1354873085 | TGFBR2 | c.821T= (p.Val274=) n.2417T= c.896T= (p.Val299=) c.848T= (p.Val283=) c.773T= (p.Val258=) c.716T= (p.Val239=) | |
3 | g.30672005G>A | CA049946 | TGFBR2 | c.822G>A (p.Val274=) n.2418G>A c.897G>A (p.Val299=) c.849G>A (p.Val283=) c.774G>A (p.Val258=) c.717G>A (p.Val239=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.30672005G>C | CA433058779 | TGFBR2 | c.822G>C (p.Val274=) n.2418G>C c.897G>C (p.Val299=) c.849G>C (p.Val283=) c.774G>C (p.Val258=) c.717G>C (p.Val239=) | |
3 | g.30672005G= | CA1354873086 | TGFBR2 | c.822G= (p.Val274=) n.2418G= c.897G= (p.Val299=) c.849G= (p.Val283=) c.774G= (p.Val258=) c.717G= (p.Val239=) | |
3 | g.30672005G>T | CA433058778 | TGFBR2 | c.822G>T (p.Val274=) n.2418G>T c.897G>T (p.Val299=) c.849G>T (p.Val283=) c.774G>T (p.Val258=) c.717G>T (p.Val239=) | dbSNP |
3 | g.30672006G>A | CA351807948 | TGFBR2 | c.823G>A (p.Ala275Thr) n.2419G>A c.898G>A (p.Ala300Thr) c.850G>A (p.Ala284Thr) c.775G>A (p.Ala259Thr) c.718G>A (p.Ala240Thr) | dbSNP |
3 | g.30672006G>C | CA351807949 | TGFBR2 | c.823G>C (p.Ala275Pro) n.2419G>C c.898G>C (p.Ala300Pro) c.850G>C (p.Ala284Pro) c.775G>C (p.Ala259Pro) c.718G>C (p.Ala240Pro) | dbSNP |
3 | g.30672006G= | CA1354873087 | TGFBR2 | c.823G= (p.Ala275=) n.2419G= c.898G= (p.Ala300=) c.850G= (p.Ala284=) c.775G= (p.Ala259=) c.718G= (p.Ala240=) | |
3 | g.30672006G>T | CA049958 | TGFBR2 | c.823G>T (p.Ala275Ser) n.2419G>T c.898G>T (p.Ala300Ser) c.850G>T (p.Ala284Ser) c.775G>T (p.Ala259Ser) c.718G>T (p.Ala240Ser) | ClinVar dbSNP ExAC gnomAD v2 |
3 | g.30672007C>A | CA351807950 | TGFBR2 | c.824C>A (p.Ala275Glu) n.2420C>A c.899C>A (p.Ala300Glu) c.851C>A (p.Ala284Glu) c.776C>A (p.Ala259Glu) c.719C>A (p.Ala240Glu) | dbSNP |
3 | g.30672007C>G | CA351807951 | TGFBR2 | c.824C>G (p.Ala275Gly) n.2420C>G c.899C>G (p.Ala300Gly) c.851C>G (p.Ala284Gly) c.776C>G (p.Ala259Gly) c.719C>G (p.Ala240Gly) | dbSNP |
3 | g.30672007C>T | CA351807952 | TGFBR2 | c.824C>T (p.Ala275Val) n.2420C>T c.899C>T (p.Ala300Val) c.851C>T (p.Ala284Val) c.776C>T (p.Ala259Val) c.719C>T (p.Ala240Val) | dbSNP gnomAD v4 |
3 | g.30672008A>C | CA433058784 | TGFBR2 | c.825A>C (p.Ala275=) n.2421A>C c.900A>C (p.Ala300=) c.852A>C (p.Ala284=) c.777A>C (p.Ala259=) c.720A>C (p.Ala240=) | |
3 | g.30672008A>G | CA433058785 | TGFBR2 | c.825A>G (p.Ala275=) n.2421A>G c.900A>G (p.Ala300=) c.852A>G (p.Ala284=) c.777A>G (p.Ala259=) c.720A>G (p.Ala240=) | ClinVar dbSNP |
3 | g.30672008A>T | CA433058786 | TGFBR2 | c.825A>T (p.Ala275=) n.2421A>T c.900A>T (p.Ala300=) c.852A>T (p.Ala284=) c.777A>T (p.Ala259=) c.720A>T (p.Ala240=) | |
3 | g.30672009G>A | CA351807955 | TGFBR2 | c.826G>A (p.Val276Ile) n.2422G>A c.901G>A (p.Val301Ile) c.853G>A (p.Val285Ile) c.778G>A (p.Val260Ile) c.721G>A (p.Val241Ile) | dbSNP |
3 | g.30672009G>C | CA351807954 | TGFBR2 | c.826G>C (p.Val276Leu) n.2422G>C c.901G>C (p.Val301Leu) c.853G>C (p.Val285Leu) c.778G>C (p.Val260Leu) c.721G>C (p.Val241Leu) | dbSNP |
3 | g.30672009G= | CA1354873088 | TGFBR2 | c.826G= (p.Val276=) n.2422G= c.901G= (p.Val301=) c.853G= (p.Val285=) c.778G= (p.Val260=) c.721G= (p.Val241=) | |
3 | g.30672009G>T | CA351807953 | TGFBR2 | c.826G>T (p.Val276Phe) n.2422G>T c.901G>T (p.Val301Phe) c.853G>T (p.Val285Phe) c.778G>T (p.Val260Phe) c.721G>T (p.Val241Phe) | ClinVar dbSNP |
3 | g.30672010T>A | CA351807956 | TGFBR2 | c.827T>A (p.Val276Asp) n.2423T>A c.902T>A (p.Val301Asp) c.854T>A (p.Val285Asp) c.779T>A (p.Val260Asp) c.722T>A (p.Val241Asp) | dbSNP |
3 | g.30672010T>C | CA351807957 | TGFBR2 | c.827T>C (p.Val276Ala) n.2423T>C c.902T>C (p.Val301Ala) c.854T>C (p.Val285Ala) c.779T>C (p.Val260Ala) c.722T>C (p.Val241Ala) | |
3 | g.30672010T>G | CA71528136 | TGFBR2 | c.827T>G (p.Val276Gly) n.2423T>G c.902T>G (p.Val301Gly) c.854T>G (p.Val285Gly) c.779T>G (p.Val260Gly) c.722T>G (p.Val241Gly) | dbSNP gnomAD v2 |
3 | g.30672010T= | CA1354873089 | TGFBR2 | c.827T= (p.Val276=) n.2423T= c.902T= (p.Val301=) c.854T= (p.Val285=) c.779T= (p.Val260=) c.722T= (p.Val241=) | |
3 | g.30672011C>A | CA433058787 | TGFBR2 | c.828C>A (p.Val276=) n.2424C>A c.903C>A (p.Val301=) c.855C>A (p.Val285=) c.780C>A (p.Val260=) c.723C>A (p.Val241=) | |
3 | g.30672011C>G | CA433058789 | TGFBR2 | c.828C>G (p.Val276=) n.2424C>G c.903C>G (p.Val301=) c.855C>G (p.Val285=) c.780C>G (p.Val260=) c.723C>G (p.Val241=) | dbSNP |
3 | g.30672011C>T | CA433058788 | TGFBR2 | c.828C>T (p.Val276=) n.2424C>T c.903C>T (p.Val301=) c.855C>T (p.Val285=) c.780C>T (p.Val260=) c.723C>T (p.Val241=) | dbSNP |
3 | g.30672012A>C | CA351807958 | TGFBR2 | c.829A>C (p.Lys277Gln) n.2425A>C c.904A>C (p.Lys302Gln) c.856A>C (p.Lys286Gln) c.781A>C (p.Lys261Gln) c.724A>C (p.Lys242Gln) | |
3 | g.30672012A>G | CA351807959 | TGFBR2 | c.829A>G (p.Lys277Glu) n.2425A>G c.904A>G (p.Lys302Glu) c.856A>G (p.Lys286Glu) c.781A>G (p.Lys261Glu) c.724A>G (p.Lys242Glu) | COSMIC |
3 | g.30672012A>T | CA351807960 | TGFBR2 | c.829A>T (p.Lys277Ter) n.2425A>T c.904A>T (p.Lys302Ter) c.856A>T (p.Lys286Ter) c.781A>T (p.Lys261Ter) c.724A>T (p.Lys242Ter) | dbSNP |
3 | g.30672013A>C | CA351807963 | TGFBR2 | c.830A>C (p.Lys277Thr) n.2426A>C c.905A>C (p.Lys302Thr) c.857A>C (p.Lys286Thr) c.782A>C (p.Lys261Thr) c.725A>C (p.Lys242Thr) | |
3 | g.30672013A>G | CA351807961 | TGFBR2 | c.830A>G (p.Lys277Arg) n.2426A>G c.905A>G (p.Lys302Arg) c.857A>G (p.Lys286Arg) c.782A>G (p.Lys261Arg) c.725A>G (p.Lys242Arg) | COSMIC COSMIC |
3 | g.30672013A>T | CA351807962 | TGFBR2 | c.830A>T (p.Lys277Met) n.2426A>T c.905A>T (p.Lys302Met) c.857A>T (p.Lys286Met) c.782A>T (p.Lys261Met) c.725A>T (p.Lys242Met) | dbSNP |
3 | g.30672014G>A | CA433058790 | TGFBR2 | c.831G>A (p.Lys277=) n.2427G>A c.906G>A (p.Lys302=) c.858G>A (p.Lys286=) c.783G>A (p.Lys261=) c.726G>A (p.Lys242=) | dbSNP |
3 | g.30672014G>C | CA351807964 | TGFBR2 | c.831G>C (p.Lys277Asn) n.2427G>C c.906G>C (p.Lys302Asn) c.858G>C (p.Lys286Asn) c.783G>C (p.Lys261Asn) c.726G>C (p.Lys242Asn) | ClinVar dbSNP |
3 | g.30672014G= | CA1354873090 | TGFBR2 | c.831G= (p.Lys277=) n.2427G= c.906G= (p.Lys302=) c.858G= (p.Lys286=) c.783G= (p.Lys261=) c.726G= (p.Lys242=) | |
3 | g.30672014G>T | CA10587565 | TGFBR2 | c.831G>T (p.Lys277Asn) n.2427G>T c.906G>T (p.Lys302Asn) c.858G>T (p.Lys286Asn) c.783G>T (p.Lys261Asn) c.726G>T (p.Lys242Asn) | ClinVar dbSNP COSMIC COSMIC |
3 | g.30672015A= | CA1354873091 | TGFBR2 | c.832A= (p.Ile278=) n.2428A= c.907A= (p.Ile303=) c.859A= (p.Ile287=) c.784A= (p.Ile262=) c.727A= (p.Ile243=) | |
3 | g.30672015A>C | CA351807965 | TGFBR2 | c.832A>C (p.Ile278Leu) n.2428A>C c.907A>C (p.Ile303Leu) c.859A>C (p.Ile287Leu) c.784A>C (p.Ile262Leu) c.727A>C (p.Ile243Leu) | |
3 | g.30672015A>G | CA351807966 | TGFBR2 | c.832A>G (p.Ile278Val) n.2428A>G c.907A>G (p.Ile303Val) c.859A>G (p.Ile287Val) c.784A>G (p.Ile262Val) c.727A>G (p.Ile243Val) | |
3 | g.30672015A>T | CA351807967 | TGFBR2 | c.832A>T (p.Ile278Phe) n.2428A>T c.907A>T (p.Ile303Phe) c.859A>T (p.Ile287Phe) c.784A>T (p.Ile262Phe) c.727A>T (p.Ile243Phe) | ClinVar dbSNP |
3 | g.30672016T>A | CA351807968 | TGFBR2 | c.833T>A (p.Ile278Asn) n.2429T>A c.908T>A (p.Ile303Asn) c.860T>A (p.Ile287Asn) c.785T>A (p.Ile262Asn) c.728T>A (p.Ile243Asn) | |
3 | g.30672016T>C | CA351807970 | TGFBR2 | c.833T>C (p.Ile278Thr) n.2429T>C c.908T>C (p.Ile303Thr) c.860T>C (p.Ile287Thr) c.785T>C (p.Ile262Thr) c.728T>C (p.Ile243Thr) | |
3 | g.30672016T>G | CA351807969 | TGFBR2 | c.833T>G (p.Ile278Ser) n.2429T>G c.908T>G (p.Ile303Ser) c.860T>G (p.Ile287Ser) c.785T>G (p.Ile262Ser) c.728T>G (p.Ile243Ser) | |
3 | g.30672017C>A | CA433058797 | TGFBR2 | c.834C>A (p.Ile278=) n.2430C>A c.909C>A (p.Ile303=) c.861C>A (p.Ile287=) c.786C>A (p.Ile262=) c.729C>A (p.Ile243=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.30672017C= | CA1354873092 | TGFBR2 | c.834C= (p.Ile278=) n.2430C= c.909C= (p.Ile303=) c.861C= (p.Ile287=) c.786C= (p.Ile262=) c.729C= (p.Ile243=) | |
3 | g.30672017C>G | CA351807971 | TGFBR2 | c.834C>G (p.Ile278Met) n.2430C>G c.909C>G (p.Ile303Met) c.861C>G (p.Ile287Met) c.786C>G (p.Ile262Met) c.729C>G (p.Ile243Met) | dbSNP gnomAD v4 |
3 | g.30672017C>T | CA049968 | TGFBR2 | c.834C>T (p.Ile278=) n.2430C>T c.909C>T (p.Ile303=) c.861C>T (p.Ile287=) c.786C>T (p.Ile262=) c.729C>T (p.Ile243=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.30672018T>A | CA351807972 | TGFBR2 | c.835T>A (p.Phe279Ile) n.2431T>A c.910T>A (p.Phe304Ile) c.862T>A (p.Phe288Ile) c.787T>A (p.Phe263Ile) c.730T>A (p.Phe244Ile) | |
3 | g.30672018T>C | CA049980 | TGFBR2 | c.835T>C (p.Phe279Leu) n.2431T>C c.910T>C (p.Phe304Leu) c.862T>C (p.Phe288Leu) c.787T>C (p.Phe263Leu) c.730T>C (p.Phe244Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.30672018T>G | CA351807973 | TGFBR2 | c.835T>G (p.Phe279Val) n.2431T>G c.910T>G (p.Phe304Val) c.862T>G (p.Phe288Val) c.787T>G (p.Phe263Val) c.730T>G (p.Phe244Val) | |
3 | g.30672018T= | CA1354873093 | TGFBR2 | c.835T= (p.Phe279=) n.2431T= c.910T= (p.Phe304=) c.862T= (p.Phe288=) c.787T= (p.Phe263=) c.730T= (p.Phe244=) | |
3 | g.30672019T>A | CA351807974 | TGFBR2 | c.836T>A (p.Phe279Tyr) n.2432T>A c.911T>A (p.Phe304Tyr) c.863T>A (p.Phe288Tyr) c.788T>A (p.Phe263Tyr) c.731T>A (p.Phe244Tyr) | |
3 | g.30672019T>C | CA351807975 | TGFBR2 | c.836T>C (p.Phe279Ser) n.2432T>C c.911T>C (p.Phe304Ser) c.863T>C (p.Phe288Ser) c.788T>C (p.Phe263Ser) c.731T>C (p.Phe244Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.30672019T>G | CA351807976 | TGFBR2 | c.836T>G (p.Phe279Cys) n.2432T>G c.911T>G (p.Phe304Cys) c.863T>G (p.Phe288Cys) c.788T>G (p.Phe263Cys) c.731T>G (p.Phe244Cys) | |
3 | g.30672019T= | CA1354873094 | TGFBR2 | c.836T= (p.Phe279=) n.2432T= c.911T= (p.Phe304=) c.863T= (p.Phe288=) c.788T= (p.Phe263=) c.731T= (p.Phe244=) | |
3 | g.30672020T>A | CA351807977 | TGFBR2 | c.837T>A (p.Phe279Leu) n.2433T>A c.912T>A (p.Phe304Leu) c.864T>A (p.Phe288Leu) c.789T>A (p.Phe263Leu) c.732T>A (p.Phe244Leu) | |
3 | g.30672020T>C | CA433058803 | TGFBR2 | c.837T>C (p.Phe279=) n.2433T>C c.912T>C (p.Phe304=) c.864T>C (p.Phe288=) c.789T>C (p.Phe263=) c.732T>C (p.Phe244=) | ClinVar dbSNP |
3 | g.30672020T>G | CA351807978 | TGFBR2 | c.837T>G (p.Phe279Leu) n.2433T>G c.912T>G (p.Phe304Leu) c.864T>G (p.Phe288Leu) c.789T>G (p.Phe263Leu) c.732T>G (p.Phe244Leu) | |
3 | g.30672021C>A | CA351807981 | TGFBR2 | c.838C>A (p.Pro280Thr) n.2434C>A c.913C>A (p.Pro305Thr) c.865C>A (p.Pro289Thr) c.790C>A (p.Pro264Thr) c.733C>A (p.Pro245Thr) | gnomAD v4 |
3 | g.30672021C>G | CA351807980 | TGFBR2 | c.838C>G (p.Pro280Ala) n.2434C>G c.913C>G (p.Pro305Ala) c.865C>G (p.Pro289Ala) c.790C>G (p.Pro264Ala) c.733C>G (p.Pro245Ala) | ClinVar dbSNP |
3 | g.30672021C>T | CA351807979 | TGFBR2 | c.838C>T (p.Pro280Ser) n.2434C>T c.913C>T (p.Pro305Ser) c.865C>T (p.Pro289Ser) c.790C>T (p.Pro264Ser) c.733C>T (p.Pro245Ser) | dbSNP |
3 | g.30672023del | CA2573130182 | TGFBR2 | c.840del (p.Tyr281MetfsTer19) n.2436del c.915del (p.Tyr306MetfsTer19) c.867del (p.Tyr290MetfsTer19) c.792del (p.Tyr265MetfsTer19) c.735del (p.Tyr246MetfsTer19) | |
3 | g.30672022C>A | CA351807982 | TGFBR2 | c.839C>A (p.Pro280His) n.2435C>A c.914C>A (p.Pro305His) c.866C>A (p.Pro289His) c.791C>A (p.Pro264His) c.734C>A (p.Pro245His) | |
3 | g.30672022C>G | CA351807984 | TGFBR2 | c.839C>G (p.Pro280Arg) n.2435C>G c.914C>G (p.Pro305Arg) c.866C>G (p.Pro289Arg) c.791C>G (p.Pro264Arg) c.734C>G (p.Pro245Arg) | dbSNP |
3 | g.30672022C>T | CA351807983 | TGFBR2 | c.839C>T (p.Pro280Leu) n.2435C>T c.914C>T (p.Pro305Leu) c.866C>T (p.Pro289Leu) c.791C>T (p.Pro264Leu) c.734C>T (p.Pro245Leu) | dbSNP |
3 | g.30672023C>A | CA433058807 | TGFBR2 | c.840C>A (p.Pro280=) n.2436C>A c.915C>A (p.Pro305=) c.867C>A (p.Pro289=) c.792C>A (p.Pro264=) c.735C>A (p.Pro245=) | |
3 | g.30672023C= | CA1354873096 | TGFBR2 | c.840C= (p.Pro280=) n.2436C= c.915C= (p.Pro305=) c.867C= (p.Pro289=) c.792C= (p.Pro264=) c.735C= (p.Pro245=) | |
3 | g.30672023C>G | CA433058808 | TGFBR2 | c.840C>G (p.Pro280=) n.2436C>G c.915C>G (p.Pro305=) c.867C>G (p.Pro289=) c.792C>G (p.Pro264=) c.735C>G (p.Pro245=) | ClinVar dbSNP |
3 | g.30672023C>T | CA433058809 | TGFBR2 | c.840C>T (p.Pro280=) n.2436C>T c.915C>T (p.Pro305=) c.867C>T (p.Pro289=) c.792C>T (p.Pro264=) c.735C>T (p.Pro245=) | dbSNP |
3 | g.30672023_30672032delinsCTATGAGGAG | CA1354873095 | TGFBR2 | c.840_849delinsCTATGAGGAG (p.Pro280=) n.2436_2445delinsCTATGAGGAG c.915_924delinsCTATGAGGAG (p.Pro305=) c.867_876delinsCTATGAGGAG (p.Pro289=) c.792_801delinsCTATGAGGAG (p.Pro264=) c.735_744delinsCTATGAGGAG (p.Pro245=) | |
3 | g.30672024T>A | CA351807985 | TGFBR2 | c.841T>A (p.Tyr281Asn) n.2437T>A c.916T>A (p.Tyr306Asn) c.868T>A (p.Tyr290Asn) c.793T>A (p.Tyr265Asn) c.736T>A (p.Tyr246Asn) | |
3 | g.30672024T>C | CA351807987 | TGFBR2 | c.841T>C (p.Tyr281His) n.2437T>C c.916T>C (p.Tyr306His) c.868T>C (p.Tyr290His) c.793T>C (p.Tyr265His) c.736T>C (p.Tyr246His) | |
3 | g.30672024T>G | CA351807986 | TGFBR2 | c.841T>G (p.Tyr281Asp) n.2437T>G c.916T>G (p.Tyr306Asp) c.868T>G (p.Tyr290Asp) c.793T>G (p.Tyr265Asp) c.736T>G (p.Tyr246Asp) | |
3 | g.30672028_30672036del | CA645294023 | TGFBR2 | c.845_853del (p.Glu282_Tyr284del) n.2441_2449del c.920_928del (p.Glu307_Tyr309del) c.872_880del (p.Glu291_Tyr293del) c.797_805del (p.Glu266_Tyr268del) c.740_748del (p.Glu247_Tyr249del) | ClinVar dbSNP |