Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.41332145C>ACA405998281TGFB1c.997G>T (p.Asp333Tyr)
c.849G>T (p.Trp283Cys)
c.771G>T (p.Trp257Cys)
c.285G>T
n.309G>T
c.1000G>T (p.Asp334Tyr)
19g.41332145C=CA2336416424TGFB1c.997G= (p.Asp333=)
c.849G= (p.Trp283=)
c.771G= (p.Trp257=)
c.285G=
n.309G=
c.1000G= (p.Asp334=)
19g.41332145C>GCA405998282TGFB1c.997G>C (p.Asp333His)
c.849G>C (p.Trp283Cys)
c.771G>C (p.Trp257Cys)
c.285G>C
n.309G>C
c.1000G>C (p.Asp334His)
19g.41332145C>TCA9459934TGFB1c.997G>A (p.Asp333Asn)
c.849G>A (p.Trp283Ter)
c.771G>A (p.Trp257Ter)
c.285G>A
n.309G>A
c.1000G>A (p.Asp334Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.41332146C>ACA507554518TGFB1c.996G>T (p.Leu332=)
c.848G>T (p.Trp283Leu)
c.770G>T (p.Trp257Leu)
c.284G>T
n.308G>T
c.999G>T (p.Leu333=)
19g.41332146C>GCA507554519TGFB1c.996G>C (p.Leu332=)
c.848G>C (p.Trp283Ser)
c.770G>C (p.Trp257Ser)
c.284G>C
n.308G>C
c.999G>C (p.Leu333=)
 gnomAD v4
19g.41332146C>TCA507554520TGFB1c.996G>A (p.Leu332=)
c.848G>A (p.Trp283Ter)
c.770G>A (p.Trp257Ter)
c.284G>A
n.308G>A
c.999G>A (p.Leu333=)
 gnomAD v4
19g.41332147A>CCA405998283TGFB1c.995T>G (p.Leu332Arg)
c.847T>G (p.Trp283Gly)
c.769T>G (p.Trp257Gly)
c.283T>G
n.307T>G
c.998T>G (p.Leu333Arg)
19g.41332147A>GCA405998284TGFB1c.995T>C (p.Leu332Pro)
c.847T>C (p.Trp283Arg)
c.769T>C (p.Trp257Arg)
c.283T>C
n.307T>C
c.998T>C (p.Leu333Pro)
19g.41332147A>TCA405998285TGFB1c.995T>A (p.Leu332Gln)
c.847T>A (p.Trp283Arg)
c.769T>A (p.Trp257Arg)
c.283T>A
n.307T>A
c.998T>A (p.Leu333Gln)
19g.41332148G>ACA507554521TGFB1c.994C>T (p.Leu332=)
c.846C>T (p.Ala282=)
c.768C>T (p.Ala256=)
c.282C>T
n.306C>T
c.997C>T (p.Leu333=)
19g.41332148G>CCA405998287TGFB1c.994C>G (p.Leu332Val)
c.846C>G (p.Ala282=)
c.768C>G (p.Ala256=)
c.282C>G
n.306C>G
c.997C>G (p.Leu333Val)
19g.41332148G>TCA405998288TGFB1c.994C>A (p.Leu332Met)
c.846C>A (p.Ala282=)
c.768C>A (p.Ala256=)
c.282C>A
n.306C>A
c.997C>A (p.Leu333Met)
19g.41332149G>ACA308562747TGFB1c.993C>T (p.Ser331=)
c.845C>T (p.Ala282Val)
c.767C>T (p.Ala256Val)
c.281C>T
n.305C>T
c.996C>T (p.Ser332=)
 dbSNP
19g.41332149G>CCA405998290TGFB1c.993C>G (p.Ser331Arg)
c.845C>G (p.Ala282Gly)
c.767C>G (p.Ala256Gly)
c.281C>G
n.305C>G
c.996C>G (p.Ser332Arg)
19g.41332149G=CA2336416425TGFB1c.993C= (p.Ser331=)
c.845C= (p.Ala282=)
c.767C= (p.Ala256=)
c.281C=
n.305C=
c.996C= (p.Ser332=)
19g.41332149G>TCA405998291TGFB1c.993C>A (p.Ser331Arg)
c.845C>A (p.Ala282Asp)
c.767C>A (p.Ala256Asp)
c.281C>A
n.305C>A
c.996C>A (p.Ser332Arg)
19g.41332150C>ACA405998292TGFB1c.992G>T (p.Ser331Ile)
c.844G>T (p.Ala282Ser)
c.766G>T (p.Ala256Ser)
c.280G>T
n.304G>T
c.995G>T (p.Ser332Ile)
19g.41332150C=CA2336416426TGFB1c.992G= (p.Ser331=)
c.844G= (p.Ala282=)
c.766G= (p.Ala256=)
c.280G=
n.304G=
c.995G= (p.Ser332=)
19g.41332150C>GCA9459935TGFB1c.992G>C (p.Ser331Thr)
c.844G>C (p.Ala282Pro)
c.766G>C (p.Ala256Pro)
c.280G>C
n.304G>C
c.995G>C (p.Ser332Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41332150C>TCA308562769TGFB1c.992G>A (p.Ser331Asn)
c.844G>A (p.Ala282Thr)
c.766G>A (p.Ala256Thr)
c.280G>A
n.304G>A
c.995G>A (p.Ser332Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41332151T>ACA405998297TGFB1c.991A>T (p.Ser331Cys)
c.843A>T (p.Gly281=)
c.765A>T (p.Gly255=)
c.279A>T
n.303A>T
c.994A>T (p.Ser332Cys)
19g.41332151T>CCA9459936TGFB1c.991A>G (p.Ser331Gly)
c.843A>G (p.Gly281=)
c.765A>G (p.Gly255=)
c.279A>G
n.303A>G
c.994A>G (p.Ser332Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41332151T>GCA405998295TGFB1c.991A>C (p.Ser331Arg)
c.843A>C (p.Gly281=)
c.765A>C (p.Gly255=)
c.279A>C
n.303A>C
c.994A>C (p.Ser332Arg)
19g.41332151T=CA2336416427TGFB1c.991A= (p.Ser331=)
c.843A= (p.Gly281=)
c.765A= (p.Gly255=)
c.279A=
n.303A=
c.994A= (p.Ser332=)
19g.41332152C>ACA405998299TGFB1c.990G>T (p.Trp330Cys)
c.842G>T (p.Gly281Val)
c.764G>T (p.Gly255Val)
c.278G>T
n.302G>T
c.993G>T (p.Trp331Cys)
19g.41332152C>GCA405998301TGFB1c.990G>C (p.Trp330Cys)
c.842G>C (p.Gly281Ala)
c.764G>C (p.Gly255Ala)
c.278G>C
n.302G>C
c.993G>C (p.Trp331Cys)
19g.41332152C>TCA405998303TGFB1c.990G>A (p.Trp330Ter)
c.842G>A (p.Gly281Glu)
c.764G>A (p.Gly255Glu)
c.278G>A
n.302G>A
c.993G>A (p.Trp331Ter)
19g.41332153C>ACA405998304TGFB1c.989G>T (p.Trp330Leu)
c.841G>T (p.Gly281Ter)
c.763G>T (p.Gly255Ter)
c.277G>T
n.301G>T
c.992G>T (p.Trp331Leu)
19g.41332153C>GCA405998306TGFB1c.989G>C (p.Trp330Ser)
c.841G>C (p.Gly281Arg)
c.763G>C (p.Gly255Arg)
c.277G>C
n.301G>C
c.992G>C (p.Trp331Ser)
19g.41332153C>TCA405998308TGFB1c.989G>A (p.Trp330Ter)
c.841G>A (p.Gly281Arg)
c.763G>A (p.Gly255Arg)
c.277G>A
n.301G>A
c.992G>A (p.Trp331Ter)
19g.41332154A>CCA405998310TGFB1c.988T>G (p.Trp330Gly)
c.840T>G (p.Phe280Leu)
c.762T>G (p.Phe254Leu)
c.276T>G
n.300T>G
c.991T>G (p.Trp331Gly)
19g.41332154A>GCA405998314TGFB1c.988T>C (p.Trp330Arg)
c.840T>C (p.Phe280=)
c.762T>C (p.Phe254=)
c.276T>C
n.300T>C
c.991T>C (p.Trp331Arg)
19g.41332154A>TCA405998312TGFB1c.988T>A (p.Trp330Arg)
c.840T>A (p.Phe280Leu)
c.762T>A (p.Phe254Leu)
c.276T>A
n.300T>A
c.991T>A (p.Trp331Arg)
19g.41332156delCA2585296139TGFB1c.988del (p.Trp330GlyfsTer?)
c.840del (p.Phe280LeufsTer?)
c.762del (p.Phe254LeufsTer18)
c.276del
n.300del
c.991del (p.Trp331GlyfsTer?)
 gnomAD v4
19g.41332155A>CCA405998315TGFB1c.987T>G (p.Ile329Met)
c.839T>G (p.Phe280Cys)
c.761T>G (p.Phe254Cys)
c.275T>G
n.299T>G
c.990T>G (p.Ile330Met)
19g.41332155A>GCA507554522TGFB1c.987T>C (p.Ile329=)
c.839T>C (p.Phe280Ser)
c.761T>C (p.Phe254Ser)
c.275T>C
n.299T>C
c.990T>C (p.Ile330=)
19g.41332155A>TCA507554523TGFB1c.987T>A (p.Ile329=)
c.839T>A (p.Phe280Tyr)
c.761T>A (p.Phe254Tyr)
c.275T>A
n.299T>A
c.990T>A (p.Ile330=)
19g.41332156A>CCA405998316TGFB1c.986T>G (p.Ile329Ser)
c.838T>G (p.Phe280Val)
c.760T>G (p.Phe254Val)
c.274T>G
n.298T>G
c.989T>G (p.Ile330Ser)
19g.41332156A>GCA405998317TGFB1c.986T>C (p.Ile329Thr)
c.838T>C (p.Phe280Leu)
c.760T>C (p.Phe254Leu)
c.274T>C
n.298T>C
c.989T>C (p.Ile330Thr)
19g.41332156A>TCA405998319TGFB1c.986T>A (p.Ile329Asn)
c.838T>A (p.Phe280Ile)
c.760T>A (p.Phe254Ile)
c.274T>A
n.298T>A
c.989T>A (p.Ile330Asn)
19g.41332157T>ACA405998324TGFB1c.985A>T (p.Ile329Phe)
c.837A>T (p.Thr279=)
c.759A>T (p.Thr253=)
c.273A>T
n.297A>T
c.988A>T (p.Ile330Phe)
19g.41332157T>CCA405998323TGFB1c.985A>G (p.Ile329Val)
c.837A>G (p.Thr279=)
c.759A>G (p.Thr253=)
c.273A>G
n.297A>G
c.988A>G (p.Ile330Val)
19g.41332157T>GCA405998321TGFB1c.985A>C (p.Ile329Leu)
c.837A>C (p.Thr279=)
c.759A>C (p.Thr253=)
c.273A>C
n.297A>C
c.988A>C (p.Ile330Leu)
19g.41332158G>ACA507554524TGFB1c.984C>T (p.Tyr328=)
c.836C>T (p.Thr279Ile)
c.758C>T (p.Thr253Ile)
c.272C>T
n.296C>T
c.987C>T (p.Tyr329=)
 ClinVar gnomAD v4
19g.41332158G>CCA405998325TGFB1c.984C>G (p.Tyr328Ter)
c.836C>G (p.Thr279Arg)
c.758C>G (p.Thr253Arg)
c.272C>G
n.296C>G
c.987C>G (p.Tyr329Ter)
19g.41332158G>TCA405998327TGFB1c.984C>A (p.Tyr328Ter)
c.836C>A (p.Thr279Lys)
c.758C>A (p.Thr253Lys)
c.272C>A
n.296C>A
c.987C>A (p.Tyr329Ter)
19g.41332159T>ACA405998329TGFB1c.983A>T (p.Tyr328Phe)
c.835A>T (p.Thr279Ser)
c.757A>T (p.Thr253Ser)
c.271A>T
n.295A>T
c.986A>T (p.Tyr329Phe)
19g.41332159T>CCA405998331TGFB1c.983A>G (p.Tyr328Cys)
c.835A>G (p.Thr279Ala)
c.757A>G (p.Thr253Ala)
c.271A>G
n.295A>G
c.986A>G (p.Tyr329Cys)
 ClinVar
19g.41332159T>GCA405998332TGFB1c.983A>C (p.Tyr328Ser)
c.835A>C (p.Thr279Pro)
c.757A>C (p.Thr253Pro)
c.271A>C
n.295A>C
c.986A>C (p.Tyr329Ser)
19g.41332160A>CCA405998337TGFB1c.982T>G (p.Tyr328Asp)
c.834T>G (p.Pro278=)
c.756T>G (p.Pro252=)
c.270T>G
n.294T>G
c.985T>G (p.Tyr329Asp)
19g.41332160A>GCA405998335TGFB1c.982T>C (p.Tyr328His)
c.834T>C (p.Pro278=)
c.756T>C (p.Pro252=)
c.270T>C
n.294T>C
c.985T>C (p.Tyr329His)
19g.41332160A>TCA405998333TGFB1c.982T>A (p.Tyr328Asn)
c.834T>A (p.Pro278=)
c.756T>A (p.Pro252=)
c.270T>A
n.294T>A
c.985T>A (p.Tyr329Asn)
19g.41332161G>ACA507554525TGFB1c.981C>T (p.Pro327=)
c.833C>T (p.Pro278Leu)
c.755C>T (p.Pro252Leu)
c.269C>T
n.293C>T
c.984C>T (p.Pro328=)
19g.41332161G>CCA507554526TGFB1c.981C>G (p.Pro327=)
c.833C>G (p.Pro278Arg)
c.755C>G (p.Pro252Arg)
c.269C>G
n.293C>G
c.984C>G (p.Pro328=)
19g.41332161G>TCA507554527TGFB1c.981C>A (p.Pro327=)
c.833C>A (p.Pro278His)
c.755C>A (p.Pro252His)
c.269C>A
n.293C>A
c.984C>A (p.Pro328=)
19g.41332162G>ACA405998339TGFB1c.980C>T (p.Pro327Leu)
c.832C>T (p.Pro278Ser)
c.754C>T (p.Pro252Ser)
c.268C>T
n.292C>T
c.983C>T (p.Pro328Leu)
19g.41332162G>CCA405998340TGFB1c.980C>G (p.Pro327Arg)
c.832C>G (p.Pro278Ala)
c.754C>G (p.Pro252Ala)
c.268C>G
n.292C>G
c.983C>G (p.Pro328Arg)
19g.41332162G>TCA405998341TGFB1c.980C>A (p.Pro327His)
c.832C>A (p.Pro278Thr)
c.754C>A (p.Pro252Thr)
c.268C>A
n.292C>A
c.983C>A (p.Pro328His)
19g.41332163G>ACA405998343TGFB1c.979C>T (p.Pro327Ser)
c.831C>T (p.Ala277=)
c.753C>T (p.Ala251=)
c.267C>T
n.291C>T
c.982C>T (p.Pro328Ser)
19g.41332163G>CCA405998344TGFB1c.979C>G (p.Pro327Ala)
c.831C>G (p.Ala277=)
c.753C>G (p.Ala251=)
c.267C>G
n.291C>G
c.982C>G (p.Pro328Ala)
19g.41332163G=CA2336416428TGFB1c.979C= (p.Pro327=)
c.831C= (p.Ala277=)
c.753C= (p.Ala251=)
c.267C=
n.291C=
c.982C= (p.Pro328=)
19g.41332163G>TCA308562799TGFB1c.979C>A (p.Pro327Thr)
c.831C>A (p.Ala277=)
c.753C>A (p.Ala251=)
c.267C>A
n.291C>A
c.982C>A (p.Pro328Thr)
 dbSNP
19g.41332164G>ACA9459937TGFB1c.978C>T (p.Cys326=)
c.830C>T (p.Ala277Val)
c.752C>T (p.Ala251Val)
c.266C>T
n.290C>T
c.981C>T (p.Cys327=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41332164G>CCA405998347TGFB1c.978C>G (p.Cys326Trp)
c.830C>G (p.Ala277Gly)
c.752C>G (p.Ala251Gly)
c.266C>G
n.290C>G
c.981C>G (p.Cys327Trp)
19g.41332164G=CA2336416429TGFB1c.978C= (p.Cys326=)
c.830C= (p.Ala277=)
c.752C= (p.Ala251=)
c.266C=
n.290C=
c.981C= (p.Cys327=)
19g.41332164G>TCA405998348TGFB1c.978C>A (p.Cys326Ter)
c.830C>A (p.Ala277Asp)
c.752C>A (p.Ala251Asp)
c.266C>A
n.290C>A
c.981C>A (p.Cys327Ter)
19g.41332165C>ACA405998350TGFB1c.977G>T (p.Cys326Phe)
c.829G>T (p.Ala277Ser)
c.751G>T (p.Ala251Ser)
c.265G>T
n.289G>T
c.980G>T (p.Cys327Phe)
19g.41332165C>GCA405998352TGFB1c.977G>C (p.Cys326Ser)
c.829G>C (p.Ala277Pro)
c.751G>C (p.Ala251Pro)
c.265G>C
n.289G>C
c.980G>C (p.Cys327Ser)
19g.41332165C>TCA405998353TGFB1c.977G>A (p.Cys326Tyr)
c.829G>A (p.Ala277Thr)
c.751G>A (p.Ala251Thr)
c.265G>A
n.289G>A
c.980G>A (p.Cys327Tyr)
19g.41332166A>CCA405998355TGFB1c.976T>G (p.Cys326Gly)
c.828T>G (p.Pro276=)
c.750T>G (p.Pro250=)
c.264T>G
n.288T>G
c.979T>G (p.Cys327Gly)
19g.41332166A>GCA405998357TGFB1c.976T>C (p.Cys326Arg)
c.828T>C (p.Pro276=)
c.750T>C (p.Pro250=)
c.264T>C
n.288T>C
c.979T>C (p.Cys327Arg)
19g.41332166A>TCA405998358TGFB1c.976T>A (p.Cys326Ser)
c.828T>A (p.Pro276=)
c.750T>A (p.Pro250=)
c.264T>A
n.288T>A
c.979T>A (p.Cys327Ser)
19g.41332167G>ACA507554528TGFB1c.975C>T (p.Pro325=)
c.827C>T (p.Pro276Leu)
c.749C>T (p.Pro250Leu)
c.263C>T
n.287C>T
c.978C>T (p.Pro326=)
19g.41332167G>CCA507554529TGFB1c.975C>G (p.Pro325=)
c.827C>G (p.Pro276Arg)
c.749C>G (p.Pro250Arg)
c.263C>G
n.287C>G
c.978C>G (p.Pro326=)
19g.41332167G>TCA507554530TGFB1c.975C>A (p.Pro325=)
c.827C>A (p.Pro276His)
c.749C>A (p.Pro250His)
c.263C>A
n.287C>A
c.978C>A (p.Pro326=)
19g.41332168G>ACA405998360TGFB1c.974C>T (p.Pro325Leu)
c.826C>T (p.Pro276Ser)
c.748C>T (p.Pro250Ser)
c.262C>T
n.286C>T
c.977C>T (p.Pro326Leu)
 dbSNP
19g.41332168G>CCA405998361TGFB1c.974C>G (p.Pro325Arg)
c.826C>G (p.Pro276Ala)
c.748C>G (p.Pro250Ala)
c.262C>G
n.286C>G
c.977C>G (p.Pro326Arg)
19g.41332168G=CA2336416430TGFB1c.974C= (p.Pro325=)
c.826C= (p.Pro276=)
c.748C= (p.Pro250=)
c.262C=
n.286C=
c.977C= (p.Pro326=)
19g.41332168G>TCA405998362TGFB1c.974C>A (p.Pro325His)
c.826C>A (p.Pro276Thr)
c.748C>A (p.Pro250Thr)
c.262C>A
n.286C>A
c.977C>A (p.Pro326His)
19g.41332169G>ACA405998365TGFB1c.973C>T (p.Pro325Ser)
c.825C>T (p.Gly275=)
c.747C>T (p.Gly249=)
c.261C>T
n.285C>T
c.976C>T (p.Pro326Ser)
19g.41332169G>CCA9459938TGFB1c.973C>G (p.Pro325Ala)
c.825C>G (p.Gly275=)
c.747C>G (p.Gly249=)
c.261C>G
n.285C>G
c.976C>G (p.Pro326Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41332169G=CA2336416431TGFB1c.973C= (p.Pro325=)
c.825C= (p.Gly275=)
c.747C= (p.Gly249=)
c.261C=
n.285C=
c.976C= (p.Pro326=)
19g.41332169G>TCA405998367TGFB1c.973C>A (p.Pro325Thr)
c.825C>A (p.Gly275=)
c.747C>A (p.Gly249=)
c.261C>A
n.285C>A
c.976C>A (p.Pro326Thr)
19g.41332170C>ACA507554531TGFB1c.972G>T (p.Gly324=)
c.824G>T (p.Gly275Val)
c.746G>T (p.Gly249Val)
c.260G>T
n.284G>T
c.975G>T (p.Gly325=)
19g.41332170C=CA2336416432TGFB1c.972G= (p.Gly324=)
c.824G= (p.Gly275=)
c.746G= (p.Gly249=)
c.260G=
n.284G=
c.975G= (p.Gly325=)
19g.41332170C>GCA507554532TGFB1c.972G>C (p.Gly324=)
c.824G>C (p.Gly275Ala)
c.746G>C (p.Gly249Ala)
c.260G>C
n.284G>C
c.975G>C (p.Gly325=)
19g.41332170C>TCA9459939TGFB1c.972G>A (p.Gly324=)
c.824G>A (p.Gly275Asp)
c.746G>A (p.Gly249Asp)
c.260G>A
n.284G>A
c.975G>A (p.Gly325=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41332171C>ACA405998369TGFB1c.971G>T (p.Gly324Val)
c.823G>T (p.Gly275Cys)
c.745G>T (p.Gly249Cys)
c.259G>T
n.283G>T
c.974G>T (p.Gly325Val)
19g.41332171C>GCA405998372TGFB1c.971G>C (p.Gly324Ala)
c.823G>C (p.Gly275Arg)
c.745G>C (p.Gly249Arg)
c.259G>C
n.283G>C
c.974G>C (p.Gly325Ala)
19g.41332171C>TCA405998371TGFB1c.971G>A (p.Gly324Glu)
c.823G>A (p.Gly275Ser)
c.745G>A (p.Gly249Ser)
c.259G>A
n.283G>A
c.974G>A (p.Gly325Glu)
19g.41332172C>ACA405998374TGFB1c.970G>T (p.Gly324Trp)
c.822G>T (p.Ser274=)
c.744G>T (p.Ser248=)
c.258G>T
n.282G>T
c.973G>T (p.Gly325Trp)
19g.41332172C=CA2336416433TGFB1c.970G= (p.Gly324=)
c.822G= (p.Ser274=)
c.744G= (p.Ser248=)
c.258G=
n.282G=
c.973G= (p.Gly325=)
19g.41332172C>GCA405998375TGFB1c.970G>C (p.Gly324Arg)
c.822G>C (p.Ser274=)
c.744G>C (p.Ser248=)
c.258G>C
n.282G>C
c.973G>C (p.Gly325Arg)
19g.41332172C>TCA9459940TGFB1c.970G>A (p.Gly324Arg)
c.822G>A (p.Ser274=)
c.744G>A (p.Ser248=)
c.258G>A
n.282G>A
c.973G>A (p.Gly325Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41332173G>ACA9459941TGFB1c.969C>T (p.Leu323=)
c.821C>T (p.Ser274Leu)
c.743C>T (p.Ser248Leu)
c.257C>T
n.281C>T
c.972C>T (p.Leu324=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41332173G>CCA507554534TGFB1c.969C>G (p.Leu323=)
c.821C>G (p.Ser274Trp)
c.743C>G (p.Ser248Trp)
c.257C>G
n.281C>G
c.972C>G (p.Leu324=)
19g.41332173G=CA2336416434TGFB1c.969C= (p.Leu323=)
c.821C= (p.Ser274=)
c.743C= (p.Ser248=)
c.257C=
n.281C=
c.972C= (p.Leu324=)
19g.41332173G>TCA507554533TGFB1c.969C>A (p.Leu323=)
c.821C>A (p.Ser274Ter)
c.743C>A (p.Ser248Ter)
c.257C>A
n.281C>A
c.972C>A (p.Leu324=)
19g.41332174A>CCA405998378TGFB1c.968T>G (p.Leu323Arg)
c.820T>G (p.Ser274Ala)
c.742T>G (p.Ser248Ala)
c.256T>G
n.280T>G
c.971T>G (p.Leu324Arg)
19g.41332174A>GCA405998380TGFB1c.968T>C (p.Leu323Pro)
c.820T>C (p.Ser274Pro)
c.742T>C (p.Ser248Pro)
c.256T>C
n.280T>C
c.971T>C (p.Leu324Pro)
19g.41332174A>TCA405998382TGFB1c.968T>A (p.Leu323His)
c.820T>A (p.Ser274Thr)
c.742T>A (p.Ser248Thr)
c.256T>A
n.280T>A
c.971T>A (p.Leu324His)
19g.41332175G>ACA9459942TGFB1c.967C>T (p.Leu323Phe)
c.819C>T (p.Ala273=)
c.741C>T (p.Ala247=)
c.255C>T
n.279C>T
c.970C>T (p.Leu324Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41332175G>CCA405998384TGFB1c.967C>G (p.Leu323Val)
c.819C>G (p.Ala273=)
c.741C>G (p.Ala247=)
c.255C>G
n.279C>G
c.970C>G (p.Leu324Val)
19g.41332175G=CA2336416435TGFB1c.967C= (p.Leu323=)
c.819C= (p.Ala273=)
c.741C= (p.Ala247=)
c.255C=
n.279C=
c.970C= (p.Leu324=)
19g.41332175G>TCA405998386TGFB1c.967C>A (p.Leu323Ile)
c.819C>A (p.Ala273=)
c.741C>A (p.Ala247=)
c.255C>A
n.279C>A
c.970C>A (p.Leu324Ile)
19g.41332176G>ACA507554535TGFB1c.966C>T (p.Cys322=)
c.818C>T (p.Ala273Val)
c.740C>T (p.Ala247Val)
c.254C>T
n.278C>T
c.969C>T (p.Cys323=)
19g.41332176G>CCA405998388TGFB1c.966C>G (p.Cys322Trp)
c.818C>G (p.Ala273Gly)
c.740C>G (p.Ala247Gly)
c.254C>G
n.278C>G
c.969C>G (p.Cys323Trp)
19g.41332176G>TCA405998390TGFB1c.966C>A (p.Cys322Ter)
c.818C>A (p.Ala273Asp)
c.740C>A (p.Ala247Asp)
c.254C>A
n.278C>A
c.969C>A (p.Cys323Ter)
19g.41332177C>ACA405998395TGFB1c.965G>T (p.Cys322Phe)
c.817G>T (p.Ala273Ser)
c.739G>T (p.Ala247Ser)
c.253G>T
n.277G>T
c.968G>T (p.Cys323Phe)
19g.41332177C>GCA405998391TGFB1c.965G>C (p.Cys322Ser)
c.817G>C (p.Ala273Pro)
c.739G>C (p.Ala247Pro)
c.253G>C
n.277G>C
c.968G>C (p.Cys323Ser)
19g.41332177C>TCA405998393TGFB1c.965G>A (p.Cys322Tyr)
c.817G>A (p.Ala273Thr)
c.739G>A (p.Ala247Thr)
c.253G>A
n.277G>A
c.968G>A (p.Cys323Tyr)
19g.41332178A>CCA405998396TGFB1c.964T>G (p.Cys322Gly)
c.816T>G (p.Ser272=)
c.738T>G (p.Ser246=)
c.252T>G
n.276T>G
c.967T>G (p.Cys323Gly)
19g.41332178A>GCA405998397TGFB1c.964T>C (p.Cys322Arg)
c.816T>C (p.Ser272=)
c.738T>C (p.Ser246=)
c.252T>C
n.276T>C
c.967T>C (p.Cys323Arg)
19g.41332178A>TCA405998399TGFB1c.964T>A (p.Cys322Ser)
c.816T>A (p.Ser272=)
c.738T>A (p.Ser246=)
c.252T>A
n.276T>A
c.967T>A (p.Cys323Ser)
19g.41332179G>ACA308562827TGFB1c.963C>T (p.Phe321=)
c.815C>T (p.Ser272Phe)
c.737C>T (p.Ser246Phe)
c.251C>T
n.275C>T
c.966C>T (p.Phe322=)
 dbSNP
19g.41332179G>CCA405998401TGFB1c.963C>G (p.Phe321Leu)
c.815C>G (p.Ser272Cys)
c.737C>G (p.Ser246Cys)
c.251C>G
n.275C>G
c.966C>G (p.Phe322Leu)
19g.41332179G=CA2336416436TGFB1c.963C= (p.Phe321=)
c.815C= (p.Ser272=)
c.737C= (p.Ser246=)
c.251C=
n.275C=
c.966C= (p.Phe322=)
19g.41332179G>TCA405998403TGFB1c.963C>A (p.Phe321Leu)
c.815C>A (p.Ser272Tyr)
c.737C>A (p.Ser246Tyr)
c.251C>A
n.275C>A
c.966C>A (p.Phe322Leu)
19g.41332180A>CCA405998404TGFB1c.962T>G (p.Phe321Cys)
c.814T>G (p.Ser272Ala)
c.736T>G (p.Ser246Ala)
c.250T>G
n.274T>G
c.965T>G (p.Phe322Cys)
19g.41332180A>GCA405998406TGFB1c.962T>C (p.Phe321Ser)
c.814T>C (p.Ser272Pro)
c.736T>C (p.Ser246Pro)
c.250T>C
n.274T>C
c.965T>C (p.Phe322Ser)
19g.41332180A>TCA405998407TGFB1c.962T>A (p.Phe321Tyr)
c.814T>A (p.Ser272Thr)
c.736T>A (p.Ser246Thr)
c.250T>A
n.274T>A
c.965T>A (p.Phe322Tyr)
19g.41332181A=CA2336416437TGFB1c.961T= (p.Phe321=)
c.813T= (p.Thr271=)
c.735T= (p.Thr245=)
c.249T=
n.273T=
c.964T= (p.Phe322=)
19g.41332181A>CCA405998409TGFB1c.961T>G (p.Phe321Val)
c.813T>G (p.Thr271=)
c.735T>G (p.Thr245=)
c.249T>G
n.273T>G
c.964T>G (p.Phe322Val)
19g.41332181A>GCA9459943TGFB1c.961T>C (p.Phe321Leu)
c.813T>C (p.Thr271=)
c.735T>C (p.Thr245=)
c.249T>C
n.273T>C
c.964T>C (p.Phe322Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.41332181A>TCA405998411TGFB1c.961T>A (p.Phe321Ile)
c.813T>A (p.Thr271=)
c.735T>A (p.Thr245=)
c.249T>A
n.273T>A
c.964T>A (p.Phe322Ile)
19g.41332182G>ACA507554536TGFB1c.960C>T (p.Asn320=)
c.812C>T (p.Thr271Ile)
c.734C>T (p.Thr245Ile)
c.248C>T
n.272C>T
c.963C>T (p.Asn321=)
 dbSNP
19g.41332182G>CCA405998413TGFB1c.960C>G (p.Asn320Lys)
c.812C>G (p.Thr271Ser)
c.734C>G (p.Thr245Ser)
c.248C>G
n.272C>G
c.963C>G (p.Asn321Lys)
19g.41332182G=CA2336416438TGFB1c.960C= (p.Asn320=)
c.812C= (p.Thr271=)
c.734C= (p.Thr245=)
c.248C=
n.272C=
c.963C= (p.Asn321=)
19g.41332182G>TCA405998415TGFB1c.960C>A (p.Asn320Lys)
c.812C>A (p.Thr271Asn)
c.734C>A (p.Thr245Asn)
c.248C>A
n.272C>A
c.963C>A (p.Asn321Lys)
19g.41332183T>ACA405998416TGFB1c.959A>T (p.Asn320Ile)
c.811A>T (p.Thr271Ser)
c.733A>T (p.Thr245Ser)
c.247A>T
n.271A>T
c.962A>T (p.Asn321Ile)
19g.41332183T>CCA405998419TGFB1c.959A>G (p.Asn320Ser)
c.811A>G (p.Thr271Ala)
c.733A>G (p.Thr245Ala)
c.247A>G
n.271A>G
c.962A>G (p.Asn321Ser)
 gnomAD v4
19g.41332183T>GCA405998417TGFB1c.959A>C (p.Asn320Thr)
c.811A>C (p.Thr271Pro)
c.733A>C (p.Thr245Pro)
c.247A>C
n.271A>C
c.962A>C (p.Asn321Thr)
19g.41332184T>ACA405998421TGFB1c.958A>T (p.Asn320Tyr)
c.810A>T (p.Pro270=)
c.732A>T (p.Pro244=)
c.246A>T
n.270A>T
c.961A>T (p.Asn321Tyr)
19g.41332184T>CCA405998423TGFB1c.958A>G (p.Asn320Asp)
c.810A>G (p.Pro270=)
c.732A>G (p.Pro244=)
c.246A>G
n.270A>G
c.961A>G (p.Asn321Asp)
19g.41332184T>GCA405998424TGFB1c.958A>C (p.Asn320His)
c.810A>C (p.Pro270=)
c.732A>C (p.Pro244=)
c.246A>C
n.270A>C
c.961A>C (p.Asn321His)
19g.41332185G>ACA507554537TGFB1c.957C>T (p.Ala319=)
c.809C>T (p.Pro270Leu)
c.731C>T (p.Pro244Leu)
c.245C>T
n.269C>T
c.960C>T (p.Ala320=)
19g.41332185G>CCA9459944TGFB1c.957C>G (p.Ala319=)
c.809C>G (p.Pro270Arg)
c.731C>G (p.Pro244Arg)
c.245C>G
n.269C>G
c.960C>G (p.Ala320=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41332185G=CA2336416439TGFB1c.957C= (p.Ala319=)
c.809C= (p.Pro270=)
c.731C= (p.Pro244=)
c.245C=
n.269C=
c.960C= (p.Ala320=)
19g.41332185G>TCA507554538TGFB1c.957C>A (p.Ala319=)
c.809C>A (p.Pro270Gln)
c.731C>A (p.Pro244Gln)
c.245C>A
n.269C>A
c.960C>A (p.Ala320=)
19g.41332186G>ACA405998426TGFB1c.956C>T (p.Ala319Val)
c.808C>T (p.Pro270Ser)
c.730C>T (p.Pro244Ser)
c.244C>T
n.268C>T
c.959C>T (p.Ala320Val)
19g.41332186G>CCA405998428TGFB1c.956C>G (p.Ala319Gly)
c.808C>G (p.Pro270Ala)
c.730C>G (p.Pro244Ala)
c.244C>G
n.268C>G
c.959C>G (p.Ala320Gly)
19g.41332186G>TCA405998430TGFB1c.956C>A (p.Ala319Asp)
c.808C>A (p.Pro270Thr)
c.730C>A (p.Pro244Thr)
c.244C>A
n.268C>A
c.959C>A (p.Ala320Asp)
19g.41332187C>ACA405998435TGFB1c.955G>T (p.Ala319Ser)
c.807G>T (p.Met269Ile)
c.729G>T (p.Met243Ile)
c.243G>T
n.267G>T
c.958G>T (p.Ala320Ser)
19g.41332187C>GCA405998432TGFB1c.955G>C (p.Ala319Pro)
c.807G>C (p.Met269Ile)
c.729G>C (p.Met243Ile)
c.243G>C
n.267G>C
c.958G>C (p.Ala320Pro)
19g.41332187C>TCA405998433TGFB1c.955G>A (p.Ala319Thr)
c.807G>A (p.Met269Ile)
c.729G>A (p.Met243Ile)
c.243G>A
n.267G>A
c.958G>A (p.Ala320Thr)
19g.41332188A>CCA405998436TGFB1c.954T>G (p.His318Gln)
c.806T>G (p.Met269Arg)
c.728T>G (p.Met243Arg)
c.242T>G
n.266T>G
c.957T>G (p.His319Gln)
19g.41332188A>GCA507554539TGFB1c.954T>C (p.His318=)
c.806T>C (p.Met269Thr)
c.728T>C (p.Met243Thr)
c.242T>C
n.266T>C
c.957T>C (p.His319=)
 gnomAD v4
19g.41332188A>TCA405998438TGFB1c.954T>A (p.His318Gln)
c.806T>A (p.Met269Lys)
c.728T>A (p.Met243Lys)
c.242T>A
n.266T>A
c.957T>A (p.His319Gln)
19g.41332189T>ACA405998440TGFB1c.953A>T (p.His318Leu)
c.805A>T (p.Met269Leu)
c.727A>T (p.Met243Leu)
c.241A>T
n.265A>T
c.956A>T (p.His319Leu)
19g.41332189T>CCA9459945TGFB1c.953A>G (p.His318Arg)
c.805A>G (p.Met269Val)
c.727A>G (p.Met243Val)
c.241A>G
n.265A>G
c.956A>G (p.His319Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41332189T>GCA405998442TGFB1c.953A>C (p.His318Pro)
c.805A>C (p.Met269Leu)
c.727A>C (p.Met243Leu)
c.241A>C
n.265A>C
c.956A>C (p.His319Pro)
19g.41332189T=CA2336416440TGFB1c.953A= (p.His318=)
c.805A= (p.Met269=)
c.727A= (p.Met243=)
c.241A=
n.265A=
c.956A= (p.His319=)
19g.41332190G>ACA405998443TGFB1c.952C>T (p.His318Tyr)
c.804C>T (p.Thr268=)
c.726C>T (p.Thr242=)
c.240C>T
n.264C>T
c.955C>T (p.His319Tyr)
19g.41332190G>CCA405998445TGFB1c.952C>G (p.His318Asp)
c.804C>G (p.Thr268=)
c.726C>G (p.Thr242=)
c.240C>G
n.264C>G
c.955C>G (p.His319Asp)
19g.41332190G>TCA405998444TGFB1c.952C>A (p.His318Asn)
c.804C>A (p.Thr268=)
c.726C>A (p.Thr242=)
c.240C>A
n.264C>A
c.955C>A (p.His319Asn)
19g.41332191G>ACA507554540TGFB1c.951C>T (p.Tyr317=)
c.803C>T (p.Thr268Ile)
c.725C>T (p.Thr242Ile)
c.239C>T
n.263C>T
c.954C>T (p.Tyr318=)
 dbSNP gnomAD v4
19g.41332191G>CCA405998447TGFB1c.951C>G (p.Tyr317Ter)
c.803C>G (p.Thr268Ser)
c.725C>G (p.Thr242Ser)
c.239C>G
n.263C>G
c.954C>G (p.Tyr318Ter)
19g.41332191G=CA2336416441TGFB1c.951C= (p.Tyr317=)
c.803C= (p.Thr268=)
c.725C= (p.Thr242=)
c.239C=
n.263C=
c.954C= (p.Tyr318=)
19g.41332191G>TCA405998449TGFB1c.951C>A (p.Tyr317Ter)
c.803C>A (p.Thr268Asn)
c.725C>A (p.Thr242Asn)
c.239C>A
n.263C>A
c.954C>A (p.Tyr318Ter)
19g.41332192T>ACA405998450TGFB1c.950A>T (p.Tyr317Phe)
c.802A>T (p.Thr268Ser)
c.724A>T (p.Thr242Ser)
c.238A>T
n.262A>T
c.953A>T (p.Tyr318Phe)
19g.41332192T>CCA405998451TGFB1c.950A>G (p.Tyr317Cys)
c.802A>G (p.Thr268Ala)
c.724A>G (p.Thr242Ala)
c.238A>G
n.262A>G
c.953A>G (p.Tyr318Cys)
19g.41332192T>GCA405998453TGFB1c.950A>C (p.Tyr317Ser)
c.802A>C (p.Thr268Pro)
c.724A>C (p.Thr242Pro)
c.238A>C
n.262A>C
c.953A>C (p.Tyr318Ser)
19g.41332192_41332193delinsTACA2336416442TGFB1c.949_950delinsTA (p.Tyr317=)
c.801_802delinsTA (p.Ala267=)
c.723_724delinsTA (p.Ala241=)
c.237_238delinsTA
n.261_262delinsTA
c.952_953delinsTA (p.Tyr318=)
19g.41332193delCA633470144TGFB1c.949del (p.Tyr317ThrfsTer?)
c.801del (p.Thr268ProfsTer?)
c.723del (p.Thr242ProfsTer?)
c.237del
n.261del
c.952del (p.Tyr318ThrfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.41332193A>CCA405998455TGFB1c.949T>G (p.Tyr317Asp)
c.801T>G (p.Ala267=)
c.723T>G (p.Ala241=)
c.237T>G
n.261T>G
c.952T>G (p.Tyr318Asp)
19g.41332193A>GCA405998457TGFB1c.949T>C (p.Tyr317His)
c.801T>C (p.Ala267=)
c.723T>C (p.Ala241=)
c.237T>C
n.261T>C
c.952T>C (p.Tyr318His)
19g.41332193A>TCA405998458TGFB1c.949T>A (p.Tyr317Asn)
c.801T>A (p.Ala267=)
c.723T>A (p.Ala241=)
c.237T>A
n.261T>A
c.952T>A (p.Tyr318Asn)
19g.41332194G>ACA507554543TGFB1c.948C>T (p.Gly316=)
c.800C>T (p.Ala267Val)
c.722C>T (p.Ala241Val)
c.236C>T
n.260C>T
c.951C>T (p.Gly317=)
19g.41332194G>CCA507554542TGFB1c.948C>G (p.Gly316=)
c.800C>G (p.Ala267Gly)
c.722C>G (p.Ala241Gly)
c.236C>G
n.260C>G
c.951C>G (p.Gly317=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.41332194G=CA2336416443TGFB1c.948C= (p.Gly316=)
c.800C= (p.Ala267=)
c.722C= (p.Ala241=)
c.236C=
n.260C=
c.951C= (p.Gly317=)
19g.41332194G>TCA507554541TGFB1c.948C>A (p.Gly316=)
c.800C>A (p.Ala267Asp)
c.722C>A (p.Ala241Asp)
c.236C>A
n.260C>A
c.951C>A (p.Gly317=)
19g.41332195C>ACA405998459TGFB1c.947G>T (p.Gly316Val)
c.799G>T (p.Ala267Ser)
c.721G>T (p.Ala241Ser)
c.235G>T
n.259G>T
c.950G>T (p.Gly317Val)
19g.41332195C=CA2336416444TGFB1c.947G= (p.Gly316=)
c.799G= (p.Ala267=)
c.721G= (p.Ala241=)
c.235G=
n.259G=
c.950G= (p.Gly317=)
19g.41332195C>GCA405998461TGFB1c.947G>C (p.Gly316Ala)
c.799G>C (p.Ala267Pro)
c.721G>C (p.Ala241Pro)
c.235G>C
n.259G>C
c.950G>C (p.Gly317Ala)
19g.41332195C>TCA405998463TGFB1c.947G>A (p.Gly316Asp)
c.799G>A (p.Ala267Thr)
c.721G>A (p.Ala241Thr)
c.235G>A
n.259G>A
c.950G>A (p.Gly317Asp)
 dbSNP gnomAD v4
19g.41332196C>ACA405998465TGFB1c.946G>T (p.Gly316Cys)
c.798G>T (p.Arg266Ser)
c.720G>T (p.Arg240Ser)
c.234G>T
n.258G>T
c.949G>T (p.Gly317Cys)
19g.41332196C>GCA405998467TGFB1c.946G>C (p.Gly316Arg)
c.798G>C (p.Arg266Ser)
c.720G>C (p.Arg240Ser)
c.234G>C
n.258G>C
c.949G>C (p.Gly317Arg)
19g.41332196C>TCA405998466TGFB1c.946G>A (p.Gly316Ser)
c.798G>A (p.Arg266=)
c.720G>A (p.Arg240=)
c.234G>A
n.258G>A
c.949G>A (p.Gly317Ser)
19g.41332197C>ACA405998469TGFB1c.945G>T (p.Lys315Asn)
c.797G>T (p.Arg266Met)
c.719G>T (p.Arg240Met)
c.233G>T
n.257G>T
c.948G>T (p.Lys316Asn)
19g.41332197C=CA2336416445TGFB1c.945G= (p.Lys315=)
c.797G= (p.Arg266=)
c.719G= (p.Arg240=)
c.233G=
n.257G=
c.948G= (p.Lys316=)
19g.41332197C>GCA9459946TGFB1c.945G>C (p.Lys315Asn)
c.797G>C (p.Arg266Thr)
c.719G>C (p.Arg240Thr)
c.233G>C
n.257G>C
c.948G>C (p.Lys316Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41332197C>TCA507554544TGFB1c.945G>A (p.Lys315=)
c.797G>A (p.Arg266Lys)
c.719G>A (p.Arg240Lys)
c.233G>A
n.257G>A
c.948G>A (p.Lys316=)
19g.41332198T>ACA405998470TGFB1c.944A>T (p.Lys315Met)
c.796A>T (p.Arg266Trp)
c.718A>T (p.Arg240Trp)
c.232A>T
n.256A>T
c.947A>T (p.Lys316Met)
 gnomAD v4
19g.41332198T>CCA9459947TGFB1c.944A>G (p.Lys315Arg)
c.796A>G (p.Arg266Gly)
c.718A>G (p.Arg240Gly)
c.232A>G
n.256A>G
c.947A>G (p.Lys316Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41332198T>GCA405998472TGFB1c.944A>C (p.Lys315Thr)
c.796A>C (p.Arg266=)
c.718A>C (p.Arg240=)
c.232A>C
n.256A>C
c.947A>C (p.Lys316Thr)
19g.41332198T=CA2336416446TGFB1c.944A= (p.Lys315=)
c.796A= (p.Arg266=)
c.718A= (p.Arg240=)
c.232A=
n.256A=
c.947A= (p.Lys316=)
19g.41332199T>ACA405998473TGFB1c.943A>T (p.Lys315Ter)
c.795A>T (p.Pro265=)
c.717A>T (p.Pro239=)
c.231A>T
n.255A>T
c.946A>T (p.Lys316Ter)
19g.41332199T>CCA405998475TGFB1c.943A>G (p.Lys315Glu)
c.795A>G (p.Pro265=)
c.717A>G (p.Pro239=)
c.231A>G
n.255A>G
c.946A>G (p.Lys316Glu)
19g.41332199T>GCA405998477TGFB1c.943A>C (p.Lys315Gln)
c.795A>C (p.Pro265=)
c.717A>C (p.Pro239=)
c.231A>C
n.255A>C
c.946A>C (p.Lys316Gln)
19g.41332200G>ACA9459948TGFB1c.942C>T (p.Pro314=)
c.794C>T (p.Pro265Leu)
c.716C>T (p.Pro239Leu)
c.230C>T
n.254C>T
c.945C>T (p.Pro315=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41332200G>CCA507554545TGFB1c.942C>G (p.Pro314=)
c.794C>G (p.Pro265Arg)
c.716C>G (p.Pro239Arg)
c.230C>G
n.254C>G
c.945C>G (p.Pro315=)
19g.41332200G=CA2336416447TGFB1c.942C= (p.Pro314=)
c.794C= (p.Pro265=)
c.716C= (p.Pro239=)
c.230C=
n.254C=
c.945C= (p.Pro315=)
19g.41332200G>TCA507554546TGFB1c.942C>A (p.Pro314=)
c.794C>A (p.Pro265Gln)
c.716C>A (p.Pro239Gln)
c.230C>A
n.254C>A
c.945C>A (p.Pro315=)
19g.41332201G>ACA405998480TGFB1c.941C>T (p.Pro314Leu)
c.793C>T (p.Pro265Ser)
c.715C>T (p.Pro239Ser)
c.229C>T
n.253C>T
c.944C>T (p.Pro315Leu)
19g.41332201G>CCA405998481TGFB1c.941C>G (p.Pro314Arg)
c.793C>G (p.Pro265Ala)
c.715C>G (p.Pro239Ala)
c.229C>G
n.253C>G
c.944C>G (p.Pro315Arg)
19g.41332201G>TCA405998483TGFB1c.941C>A (p.Pro314His)
c.793C>A (p.Pro265Thr)
c.715C>A (p.Pro239Thr)
c.229C>A
n.253C>A
c.944C>A (p.Pro315His)
19g.41332202G>ACA405998488TGFB1c.940C>T (p.Pro314Ser)
c.792C>T (p.Ser264=)
c.714C>T (p.Ser238=)
c.228C>T
n.252C>T
c.943C>T (p.Pro315Ser)
19g.41332202G>CCA405998485TGFB1c.940C>G (p.Pro314Ala)
c.792C>G (p.Ser264Arg)
c.714C>G (p.Ser238Arg)
c.228C>G
n.252C>G
c.943C>G (p.Pro315Ala)
19g.41332202G>TCA405998487TGFB1c.940C>A (p.Pro314Thr)
c.792C>A (p.Ser264Arg)
c.714C>A (p.Ser238Arg)
c.228C>A
n.252C>A
c.943C>A (p.Pro315Thr)
19g.41332203C>ACA308562858TGFB1c.939G>T (p.Glu313Asp)
c.791G>T (p.Ser264Ile)
c.713G>T (p.Ser238Ile)
c.227G>T
n.251G>T
c.942G>T (p.Glu314Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41332203C=CA2336416448TGFB1c.939G= (p.Glu313=)
c.791G= (p.Ser264=)
c.713G= (p.Ser238=)
c.227G=
n.251G=
c.942G= (p.Glu314=)
19g.41332203C>GCA405998490TGFB1c.939G>C (p.Glu313Asp)
c.791G>C (p.Ser264Thr)
c.713G>C (p.Ser238Thr)
c.227G>C
n.251G>C
c.942G>C (p.Glu314Asp)
19g.41332203C>TCA507554547TGFB1c.939G>A (p.Glu313=)
c.791G>A (p.Ser264Asn)
c.713G>A (p.Ser238Asn)
c.227G>A
n.251G>A
c.942G>A (p.Glu314=)
19g.41332204T>ACA405998492TGFB1c.938A>T (p.Glu313Val)
c.790A>T (p.Ser264Cys)
c.712A>T (p.Ser238Cys)
c.226A>T
n.250A>T
c.941A>T (p.Glu314Val)
19g.41332204T>CCA405998494TGFB1c.938A>G (p.Glu313Gly)
c.790A>G (p.Ser264Gly)
c.712A>G (p.Ser238Gly)
c.226A>G
n.250A>G
c.941A>G (p.Glu314Gly)
19g.41332204T>GCA405998495TGFB1c.938A>C (p.Glu313Ala)
c.790A>C (p.Ser264Arg)
c.712A>C (p.Ser238Arg)
c.226A>C
n.250A>C
c.941A>C (p.Glu314Ala)
19g.41332205C>ACA405998497TGFB1c.937G>T (p.Glu313Ter)
c.789G>T (p.Thr263=)
c.711G>T (p.Thr237=)
c.225G>T
n.249G>T
c.940G>T (p.Glu314Ter)
19g.41332205C=CA2336416449TGFB1c.937G= (p.Glu313=)
c.789G= (p.Thr263=)
c.711G= (p.Thr237=)
c.225G=
n.249G=
c.940G= (p.Glu314=)
19g.41332205C>GCA405998498TGFB1c.937G>C (p.Glu313Gln)
c.789G>C (p.Thr263=)
c.711G>C (p.Thr237=)
c.225G>C
n.249G>C
c.940G>C (p.Glu314Gln)
 dbSNP
19g.41332205C>TCA405998499TGFB1c.937G>A (p.Glu313Lys)
c.789G>A (p.Thr263=)
c.711G>A (p.Thr237=)
c.225G>A
n.249G>A
c.940G>A (p.Glu314Lys)
 ClinVar
19g.41332206G>ACA9459949TGFB1c.936C>T (p.His312=)
c.788C>T (p.Thr263Met)
c.710C>T (p.Thr237Met)
c.224C>T
n.248C>T
c.939C>T (p.His313=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41332206G>CCA9459950TGFB1c.936C>G (p.His312Gln)
c.788C>G (p.Thr263Arg)
c.710C>G (p.Thr237Arg)
c.224C>G
n.248C>G
c.939C>G (p.His313Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41332206G=CA2336416450TGFB1c.936C= (p.His312=)
c.788C= (p.Thr263=)
c.710C= (p.Thr237=)
c.224C=
n.248C=
c.939C= (p.His313=)
19g.41332206G>TCA405998503TGFB1c.936C>A (p.His312Gln)
c.788C>A (p.Thr263Lys)
c.710C>A (p.Thr237Lys)
c.224C>A
n.248C>A
c.939C>A (p.His313Gln)
19g.41332207T>ACA405998508TGFB1c.935A>T (p.His312Leu)
c.787A>T (p.Thr263Ser)
c.709A>T (p.Thr237Ser)
c.223A>T
n.247A>T
c.938A>T (p.His313Leu)
19g.41332207T>CCA405998506TGFB1c.935A>G (p.His312Arg)
c.787A>G (p.Thr263Ala)
c.709A>G (p.Thr237Ala)
c.223A>G
n.247A>G
c.938A>G (p.His313Arg)
19g.41332207T>GCA405998504TGFB1c.935A>C (p.His312Pro)
c.787A>C (p.Thr263Pro)
c.709A>C (p.Thr237Pro)
c.223A>C
n.247A>C
c.938A>C (p.His313Pro)
19g.41332208G>ACA405998509TGFB1c.934C>T (p.His312Tyr)
c.786C>T (p.Ser262=)
c.708C>T (p.Ser236=)
c.222C>T
n.246C>T
c.937C>T (p.His313Tyr)
 ClinVar dbSNP COSMIC
19g.41332208G>CCA405998511TGFB1c.934C>G (p.His312Asp)
c.786C>G (p.Ser262=)
c.708C>G (p.Ser236=)
c.222C>G
n.246C>G
c.937C>G (p.His313Asp)
19g.41332208G>TCA405998513TGFB1c.934C>A (p.His312Asn)
c.786C>A (p.Ser262=)
c.708C>A (p.Ser236=)
c.222C>A
n.246C>A
c.937C>A (p.His313Asn)
19g.41332209G>ACA507554548TGFB1c.933C>T (p.Ile311=)
c.785C>T (p.Ser262Phe)
c.707C>T (p.Ser236Phe)
c.221C>T
n.245C>T
c.936C>T (p.Ile312=)
19g.41332209G>CCA405998514TGFB1c.933C>G (p.Ile311Met)
c.785C>G (p.Ser262Cys)
c.707C>G (p.Ser236Cys)
c.221C>G
n.245C>G
c.936C>G (p.Ile312Met)
19g.41332209G>TCA507554549TGFB1c.933C>A (p.Ile311=)
c.785C>A (p.Ser262Tyr)
c.707C>A (p.Ser236Tyr)
c.221C>A
n.245C>A
c.936C>A (p.Ile312=)
19g.41332210A>CCA405998516TGFB1c.932T>G (p.Ile311Ser)
c.784T>G (p.Ser262Ala)
c.706T>G (p.Ser236Ala)
c.220T>G
n.244T>G
c.935T>G (p.Ile312Ser)
19g.41332210A>GCA405998517TGFB1c.932T>C (p.Ile311Thr)
c.784T>C (p.Ser262Pro)
c.706T>C (p.Ser236Pro)
c.220T>C
n.244T>C
c.935T>C (p.Ile312Thr)
19g.41332210A>TCA405998519TGFB1c.932T>A (p.Ile311Asn)
c.784T>A (p.Ser262Thr)
c.706T>A (p.Ser236Thr)
c.220T>A
n.244T>A
c.935T>A (p.Ile312Asn)
19g.41332211T>ACA405998521TGFB1c.931A>T (p.Ile311Phe)
c.783A>T (p.Gly261=)
c.705A>T (p.Gly235=)
c.219A>T
n.243A>T
c.934A>T (p.Ile312Phe)
19g.41332211T>CCA405998522TGFB1c.931A>G (p.Ile311Val)
c.783A>G (p.Gly261=)
c.705A>G (p.Gly235=)
c.219A>G
n.243A>G
c.934A>G (p.Ile312Val)
 ClinVar
19g.41332211T>GCA405998524TGFB1c.931A>C (p.Ile311Leu)
c.783A>C (p.Gly261=)
c.705A>C (p.Gly235=)
c.219A>C
n.243A>C
c.934A>C (p.Ile312Leu)
19g.41332212C>ACA405998526TGFB1c.930G>T (p.Trp310Cys)
c.782G>T (p.Gly261Val)
c.704G>T (p.Gly235Val)
c.218G>T
n.242G>T
c.933G>T (p.Trp311Cys)
19g.41332212C>GCA405998528TGFB1c.930G>C (p.Trp310Cys)
c.782G>C (p.Gly261Ala)
c.704G>C (p.Gly235Ala)
c.218G>C
n.242G>C
c.933G>C (p.Trp311Cys)
19g.41332212C>TCA405998529TGFB1c.930G>A (p.Trp310Ter)
c.782G>A (p.Gly261Glu)
c.704G>A (p.Gly235Glu)
c.218G>A
n.242G>A
c.933G>A (p.Trp311Ter)
19g.41332213C>ACA405998534TGFB1c.929G>T (p.Trp310Leu)
c.781G>T (p.Gly261Ter)
c.703G>T (p.Gly235Ter)
c.217G>T
n.241G>T
c.932G>T (p.Trp311Leu)
19g.41332213C>GCA405998532TGFB1c.929G>C (p.Trp310Ser)
c.781G>C (p.Gly261Arg)
c.703G>C (p.Gly235Arg)
c.217G>C
n.241G>C
c.932G>C (p.Trp311Ser)
19g.41332213C>TCA405998531TGFB1c.929G>A (p.Trp310Ter)
c.781G>A (p.Gly261Arg)
c.703G>A (p.Gly235Arg)
c.217G>A
n.241G>A
c.932G>A (p.Trp311Ter)
19g.41332214A>CCA405998535TGFB1c.928T>G (p.Trp310Gly)
c.780T>G (p.Ser260Arg)
c.702T>G (p.Ser234Arg)
c.216T>G
n.240T>G
c.931T>G (p.Trp311Gly)
19g.41332214A>GCA405998536TGFB1c.928T>C (p.Trp310Arg)
c.780T>C (p.Ser260=)
c.702T>C (p.Ser234=)
c.216T>C
n.240T>C
c.931T>C (p.Trp311Arg)
19g.41332214A>TCA405998537TGFB1c.928T>A (p.Trp310Arg)
c.780T>A (p.Ser260Arg)
c.702T>A (p.Ser234Arg)
c.216T>A
n.240T>A
c.931T>A (p.Trp311Arg)
 gnomAD v4
19g.41332215C>ACA405998540TGFB1c.927G>T (p.Lys309Asn)
c.779G>T (p.Ser260Ile)
c.701G>T (p.Ser234Ile)
c.215G>T
n.239G>T
c.930G>T (p.Lys310Asn)
19g.41332215C>GCA405998541TGFB1c.927G>C (p.Lys309Asn)
c.779G>C (p.Ser260Thr)
c.701G>C (p.Ser234Thr)
c.215G>C
n.239G>C
c.930G>C (p.Lys310Asn)
19g.41332215C>TCA507554550TGFB1c.927G>A (p.Lys309=)
c.779G>A (p.Ser260Asn)
c.701G>A (p.Ser234Asn)
c.215G>A
n.239G>A
c.930G>A (p.Lys310=)
 gnomAD v4
19g.41332216T>ACA405998543TGFB1c.926A>T (p.Lys309Met)
c.778A>T (p.Ser260Cys)
c.700A>T (p.Ser234Cys)
c.214A>T
n.238A>T
c.929A>T (p.Lys310Met)
19g.41332216T>CCA308562868TGFB1c.926A>G (p.Lys309Arg)
c.778A>G (p.Ser260Gly)
c.700A>G (p.Ser234Gly)
c.214A>G
n.238A>G
c.929A>G (p.Lys310Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.41332216T>GCA405998545TGFB1c.926A>C (p.Lys309Thr)
c.778A>C (p.Ser260Arg)
c.700A>C (p.Ser234Arg)
c.214A>C
n.238A>C
c.929A>C (p.Lys310Thr)
19g.41332216T=CA2336416451TGFB1c.926A= (p.Lys309=)
c.778A= (p.Ser260=)
c.700A= (p.Ser234=)
c.214A=
n.238A=
c.929A= (p.Lys310=)
19g.41332217T>ACA405998547TGFB1c.925A>T (p.Lys309Ter)
c.777A>T (p.Gly259=)
c.699A>T (p.Gly233=)
c.213A>T
n.237A>T
c.928A>T (p.Lys310Ter)
19g.41332217T>CCA405998549TGFB1c.925A>G (p.Lys309Glu)
c.777A>G (p.Gly259=)
c.699A>G (p.Gly233=)
c.213A>G
n.237A>G
c.928A>G (p.Lys310Glu)
 gnomAD v4
19g.41332217T>GCA405998550TGFB1c.925A>C (p.Lys309Gln)
c.777A>C (p.Gly259=)
c.699A>C (p.Gly233=)
c.213A>C
n.237A>C
c.928A>C (p.Lys310Gln)
19g.41332218C>ACA405998552TGFB1c.924G>T (p.Trp308Cys)
c.776G>T (p.Gly259Val)
c.698G>T (p.Gly233Val)
c.212G>T
n.236G>T
c.927G>T (p.Trp309Cys)
19g.41332218C>GCA405998553TGFB1c.924G>C (p.Trp308Cys)
c.776G>C (p.Gly259Ala)
c.698G>C (p.Gly233Ala)
c.212G>C
n.236G>C
c.927G>C (p.Trp309Cys)
19g.41332218C>TCA405998554TGFB1c.924G>A (p.Trp308Ter)
c.776G>A (p.Gly259Glu)
c.698G>A (p.Gly233Glu)
c.212G>A
n.236G>A
c.927G>A (p.Trp309Ter)
19g.41332219C>ACA405998557TGFB1c.923G>T (p.Trp308Leu)
c.775G>T (p.Gly259Ter)
c.697G>T (p.Gly233Ter)
c.211G>T
n.235G>T
c.926G>T (p.Trp309Leu)
19g.41332219C>GCA405998559TGFB1c.923G>C (p.Trp308Ser)
c.775G>C (p.Gly259Arg)
c.697G>C (p.Gly233Arg)
c.211G>C
n.235G>C
c.926G>C (p.Trp309Ser)
19g.41332219C>TCA405998555TGFB1c.923G>A (p.Trp308Ter)
c.775G>A (p.Gly259Arg)
c.697G>A (p.Gly233Arg)
c.211G>A
n.235G>A
c.926G>A (p.Trp309Ter)
19g.41332220A=CA2336416452TGFB1c.922T= (p.Trp308=)
c.774T= (p.Ala258=)
c.696T= (p.Ala232=)
c.210T=
n.234T=
c.925T= (p.Trp309=)
19g.41332220A>CCA405998560TGFB1c.922T>G (p.Trp308Gly)
c.774T>G (p.Ala258=)
c.696T>G (p.Ala232=)
c.210T>G
n.234T>G
c.925T>G (p.Trp309Gly)
19g.41332220A>GCA9459951TGFB1c.922T>C (p.Trp308Arg)
c.774T>C (p.Ala258=)
c.696T>C (p.Ala232=)
c.210T>C
n.234T>C
c.925T>C (p.Trp309Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41332220A>TCA405998563TGFB1c.922T>A (p.Trp308Arg)
c.774T>A (p.Ala258=)
c.696T>A (p.Ala232=)
c.210T>A
n.234T>A
c.925T>A (p.Trp309Arg)
19g.41332221G>ACA507554551TGFB1c.921C>T (p.Gly307=)
c.773C>T (p.Ala258Val)
c.695C>T (p.Ala232Val)
c.209C>T
n.233C>T
c.924C>T (p.Gly308=)
 dbSNP
19g.41332221G>CCA507554552TGFB1c.921C>G (p.Gly307=)
c.773C>G (p.Ala258Gly)
c.695C>G (p.Ala232Gly)
c.209C>G
n.233C>G
c.924C>G (p.Gly308=)
 gnomAD v4
19g.41332221G=CA2336416453TGFB1c.921C= (p.Gly307=)
c.773C= (p.Ala258=)
c.695C= (p.Ala232=)
c.209C=
n.233C=
c.924C= (p.Gly308=)
19g.41332221G>TCA507554553TGFB1c.921C>A (p.Gly307=)
c.773C>A (p.Ala258Asp)
c.695C>A (p.Ala232Asp)
c.209C>A
n.233C>A
c.924C>A (p.Gly308=)
19g.41332222C>ACA405998565TGFB1c.920G>T (p.Gly307Val)
c.772G>T (p.Ala258Ser)
c.694G>T (p.Ala232Ser)
c.208G>T
n.232G>T
c.923G>T (p.Gly308Val)
 gnomAD v4
19g.41332222C=CA2336416454TGFB1c.920G= (p.Gly307=)
c.772G= (p.Ala258=)
c.694G= (p.Ala232=)
c.208G=
n.232G=
c.923G= (p.Gly308=)
19g.41332222C>GCA405998566TGFB1c.920G>C (p.Gly307Ala)
c.772G>C (p.Ala258Pro)
c.694G>C (p.Ala232Pro)
c.208G>C
n.232G>C
c.923G>C (p.Gly308Ala)
19g.41332222C>TCA405998567TGFB1c.920G>A (p.Gly307Asp)
c.772G>A (p.Ala258Thr)
c.694G>A (p.Ala232Thr)
c.208G>A
n.232G>A
c.923G>A (p.Gly308Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41332223C>ACA405998570TGFB1c.919G>T (p.Gly307Cys)
c.771G>T (p.Ser257=)
c.693G>T (p.Ser231=)
c.207G>T
n.231G>T
c.922G>T (p.Gly308Cys)
19g.41332223C=CA2336416455TGFB1c.919G= (p.Gly307=)
c.771G= (p.Ser257=)
c.693G= (p.Ser231=)
c.207G=
n.231G=
c.922G= (p.Gly308=)
19g.41332223C>GCA405998571TGFB1c.919G>C (p.Gly307Arg)
c.771G>C (p.Ser257=)
c.693G>C (p.Ser231=)
c.207G>C
n.231G>C
c.922G>C (p.Gly308Arg)
19g.41332223C>TCA405998573TGFB1c.919G>A (p.Gly307Ser)
c.771G>A (p.Ser257=)
c.693G>A (p.Ser231=)
c.207G>A
n.231G>A
c.922G>A (p.Gly308Ser)
 dbSNP gnomAD v4
19g.41332224G>ACA246595TGFB1c.918C>T (p.Leu306=)
c.770C>T (p.Ser257Leu)
c.692C>T (p.Ser231Leu)
c.206C>T
n.230C>T
c.921C>T (p.Leu307=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41332224G>CCA507554555TGFB1c.918C>G (p.Leu306=)
c.770C>G (p.Ser257Trp)
c.692C>G (p.Ser231Trp)
c.206C>G
n.230C>G
c.921C>G (p.Leu307=)
 dbSNP gnomAD v4
19g.41332224G=CA2336416456TGFB1c.918C= (p.Leu306=)
c.770C= (p.Ser257=)
c.692C= (p.Ser231=)
c.206C=
n.230C=
c.921C= (p.Leu307=)
19g.41332224G>TCA507554554TGFB1c.918C>A (p.Leu306=)
c.770C>A (p.Ser257Ter)
c.692C>A (p.Ser231Ter)
c.206C>A
n.230C>A
c.921C>A (p.Leu307=)
19g.41332225A>CCA405998574TGFB1c.917T>G (p.Leu306Arg)
c.769T>G (p.Ser257Ala)
c.691T>G (p.Ser231Ala)
c.205T>G
n.229T>G
c.920T>G (p.Leu307Arg)
19g.41332225A>GCA405998575TGFB1c.917T>C (p.Leu306Pro)
c.769T>C (p.Ser257Pro)
c.691T>C (p.Ser231Pro)
c.205T>C
n.229T>C
c.920T>C (p.Leu307Pro)
19g.41332225A>TCA405998576TGFB1c.917T>A (p.Leu306His)
c.769T>A (p.Ser257Thr)
c.691T>A (p.Ser231Thr)
c.205T>A
n.229T>A
c.920T>A (p.Leu307His)
19g.41332226G>ACA308562873TGFB1c.916C>T (p.Leu306Phe)
c.768C>T (p.Thr256=)
c.690C>T (p.Thr230=)
c.204C>T
n.228C>T
c.919C>T (p.Leu307Phe)
 dbSNP
19g.41332226G>CCA405998578TGFB1c.916C>G (p.Leu306Val)
c.768C>G (p.Thr256=)
c.690C>G (p.Thr230=)
c.204C>G
n.228C>G
c.919C>G (p.Leu307Val)
19g.41332226G=CA2336416457TGFB1c.916C= (p.Leu306=)
c.768C= (p.Thr256=)
c.690C= (p.Thr230=)
c.204C=
n.228C=
c.919C= (p.Leu307=)
19g.41332226G>TCA405998577TGFB1c.916C>A (p.Leu306Ile)
c.768C>A (p.Thr256=)
c.690C>A (p.Thr230=)
c.204C>A
n.228C>A
c.919C>A (p.Leu307Ile)
 COSMIC
19g.41332227G>ACA507554556TGFB1c.915C>T (p.Asp305=)
c.767C>T (p.Thr256Ile)
c.689C>T (p.Thr230Ile)
c.203C>T
n.227C>T
c.918C>T (p.Asp306=)
19g.41332227G>CCA405998579TGFB1c.915C>G (p.Asp305Glu)
c.767C>G (p.Thr256Ser)
c.689C>G (p.Thr230Ser)
c.203C>G
n.227C>G
c.918C>G (p.Asp306Glu)
19g.41332227G>TCA405998580TGFB1c.915C>A (p.Asp305Glu)
c.767C>A (p.Thr256Asn)
c.689C>A (p.Thr230Asn)
c.203C>A
n.227C>A
c.918C>A (p.Asp306Glu)
19g.41332228T>ACA405998581TGFB1c.914A>T (p.Asp305Val)
c.766A>T (p.Thr256Ser)
c.688A>T (p.Thr230Ser)
c.202A>T
n.226A>T
c.917A>T (p.Asp306Val)
19g.41332228T>CCA405998582TGFB1c.914A>G (p.Asp305Gly)
c.766A>G (p.Thr256Ala)
c.688A>G (p.Thr230Ala)
c.202A>G
n.226A>G
c.917A>G (p.Asp306Gly)
19g.41332228T>GCA405998583TGFB1c.914A>C (p.Asp305Ala)
c.766A>C (p.Thr256Pro)
c.688A>C (p.Thr230Pro)
c.202A>C
n.226A>C
c.917A>C (p.Asp306Ala)
 dbSNP
19g.41332228T=CA2336416458TGFB1c.914A= (p.Asp305=)
c.766A= (p.Thr256=)
c.688A= (p.Thr230=)
c.202A=
n.226A=
c.917A= (p.Asp306=)
19g.41332229C>ACA405998584TGFB1c.913G>T (p.Asp305Tyr)
c.765G>T (p.Arg255Ser)
c.687G>T (p.Arg229Ser)
c.201G>T
n.225G>T
c.916G>T (p.Asp306Tyr)
19g.41332229C>GCA405998585TGFB1c.913G>C (p.Asp305His)
c.765G>C (p.Arg255Ser)
c.687G>C (p.Arg229Ser)
c.201G>C
n.225G>C
c.916G>C (p.Asp306His)
19g.41332229C>TCA405998586TGFB1c.913G>A (p.Asp305Asn)
c.765G>A (p.Arg255=)
c.687G>A (p.Arg229=)
c.201G>A
n.225G>A
c.916G>A (p.Asp306Asn)
 gnomAD v4
19g.41332230C>ACA405998587TGFB1c.912G>T (p.Lys304Asn)
c.764G>T (p.Arg255Met)
c.686G>T (p.Arg229Met)
c.200G>T
n.224G>T
c.915G>T (p.Lys305Asn)
19g.41332230C=CA2336416460TGFB1c.912G= (p.Lys304=)
c.764G= (p.Arg255=)
c.686G= (p.Arg229=)
c.200G=
n.224G=
c.915G= (p.Lys305=)
19g.41332230C>GCA405998588TGFB1c.912G>C (p.Lys304Asn)
c.764G>C (p.Arg255Thr)
c.686G>C (p.Arg229Thr)
c.200G>C
n.224G>C
c.915G>C (p.Lys305Asn)
19g.41332230C>TCA507554557TGFB1c.912G>A (p.Lys304=)
c.764G>A (p.Arg255Lys)
c.686G>A (p.Arg229Lys)
c.200G>A
n.224G>A
c.915G>A (p.Lys305=)
 dbSNP
19g.41332230_41332231delinsCTCA2336416459TGFB1c.911_912delinsAG (p.Lys304=)
c.763_764delinsAG (p.Arg255=)
c.685_686delinsAG (p.Arg229=)
c.199_200delinsAG
n.223_224delinsAG
c.914_915delinsAG (p.Lys305=)
19g.41332231T>ACA405998591TGFB1c.911A>T (p.Lys304Met)
c.763A>T (p.Arg255Trp)
c.685A>T (p.Arg229Trp)
c.199A>T
n.223A>T
c.914A>T (p.Lys305Met)
19g.41332231T>CCA405998590TGFB1c.911A>G (p.Lys304Arg)
c.763A>G (p.Arg255Gly)
c.685A>G (p.Arg229Gly)
c.199A>G
n.223A>G
c.914A>G (p.Lys305Arg)
19g.41332231T>GCA405998589TGFB1c.911A>C (p.Lys304Thr)
c.763A>C (p.Arg255=)
c.685A>C (p.Arg229=)
c.199A>C
n.223A>C
c.914A>C (p.Lys305Thr)
19g.41332232delCA882310624TGFB1c.911del (p.Lys304ArgfsTer?)
c.763del (p.Arg255GlyfsTer?)
c.685del (p.Arg229GlyfsTer?)
c.199del
n.223del
c.914del (p.Lys305ArgfsTer?)
 dbSNP
19g.41332232T>ACA405998592TGFB1c.910A>T (p.Lys304Ter)
c.762A>T (p.Ala254=)
c.684A>T (p.Ala228=)
c.198A>T
n.222A>T
c.913A>T (p.Lys305Ter)
19g.41332232T>CCA405998594TGFB1c.910A>G (p.Lys304Glu)
c.762A>G (p.Ala254=)
c.684A>G (p.Ala228=)
c.198A>G
n.222A>G
c.913A>G (p.Lys305Glu)
 gnomAD v4
19g.41332232T>GCA405998593TGFB1c.910A>C (p.Lys304Gln)
c.762A>C (p.Ala254=)
c.684A>C (p.Ala228=)
c.198A>C
n.222A>C
c.913A>C (p.Lys305Gln)
 gnomAD v4
19g.41332233G>ACA507554558TGFB1c.909C>T (p.Arg303=)
c.761C>T (p.Ala254Val)
c.683C>T (p.Ala228Val)
c.197C>T
n.221C>T
c.912C>T (p.Arg304=)
19g.41332233G>CCA507554559TGFB1c.909C>G (p.Arg303=)
c.761C>G (p.Ala254Gly)
c.683C>G (p.Ala228Gly)
c.197C>G
n.221C>G
c.912C>G (p.Arg304=)
 dbSNP
19g.41332233G=CA2336416461TGFB1c.909C= (p.Arg303=)
c.761C= (p.Ala254=)
c.683C= (p.Ala228=)
c.197C=
n.221C=
c.912C= (p.Arg304=)
19g.41332233G>TCA507554560TGFB1c.909C>A (p.Arg303=)
c.761C>A (p.Ala254Glu)
c.683C>A (p.Ala228Glu)
c.197C>A
n.221C>A
c.912C>A (p.Arg304=)
19g.41332234C>ACA405998595TGFB1c.908G>T (p.Arg303Leu)
c.760G>T (p.Ala254Ser)
c.682G>T (p.Ala228Ser)
c.196G>T
n.220G>T
c.911G>T (p.Arg304Leu)
 gnomAD v4
19g.41332234C=CA2336416462TGFB1c.908G= (p.Arg303=)
c.760G= (p.Ala254=)
c.682G= (p.Ala228=)
c.196G=
n.220G=
c.911G= (p.Arg304=)
19g.41332234C>GCA405998596TGFB1c.908G>C (p.Arg303Pro)
c.760G>C (p.Ala254Pro)
c.682G>C (p.Ala228Pro)
c.196G>C
n.220G>C
c.911G>C (p.Arg304Pro)
19g.41332234C>TCA9459952TGFB1c.908G>A (p.Arg303His)
c.760G>A (p.Ala254Thr)
c.682G>A (p.Ala228Thr)
c.196G>A
n.220G>A
c.911G>A (p.Arg304His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41332235G>ACA9459953TGFB1c.907C>T (p.Arg303Cys)
c.759C>T (p.Ser253=)
c.681C>T (p.Ser227=)
c.195C>T
n.219C>T
c.910C>T (p.Arg304Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41332235G>CCA405998598TGFB1c.907C>G (p.Arg303Gly)
c.759C>G (p.Ser253=)
c.681C>G (p.Ser227=)
c.195C>G
n.219C>G
c.910C>G (p.Arg304Gly)
 gnomAD v4
19g.41332235G=CA2336416463TGFB1c.907C= (p.Arg303=)
c.759C= (p.Ser253=)
c.681C= (p.Ser227=)
c.195C=
n.219C=
c.910C= (p.Arg304=)
19g.41332235G>TCA405998597TGFB1c.907C>A (p.Arg303Ser)
c.759C>A (p.Ser253=)
c.681C>A (p.Ser227=)
c.195C>A
n.219C>A
c.910C>A (p.Arg304Ser)
 dbSNP
19g.41332236G>ACA507554561TGFB1c.906C>T (p.Phe302=)
c.758C>T (p.Ser253Phe)
c.680C>T (p.Ser227Phe)
c.194C>T
n.218C>T
c.909C>T (p.Phe303=)
 dbSNP gnomAD v4
19g.41332236G>CCA405998599TGFB1c.906C>G (p.Phe302Leu)
c.758C>G (p.Ser253Cys)
c.680C>G (p.Ser227Cys)
c.194C>G
n.218C>G
c.909C>G (p.Phe303Leu)
19g.41332236G=CA2336416464TGFB1c.906C= (p.Phe302=)
c.758C= (p.Ser253=)
c.680C= (p.Ser227=)
c.194C=
n.218C=
c.909C= (p.Phe303=)
19g.41332236G>TCA405998600TGFB1c.906C>A (p.Phe302Leu)
c.758C>A (p.Ser253Tyr)
c.680C>A (p.Ser227Tyr)
c.194C>A
n.218C>A
c.909C>A (p.Phe303Leu)
19g.41332237A>CCA405998601TGFB1c.905T>G (p.Phe302Cys)
c.757T>G (p.Ser253Ala)
c.679T>G (p.Ser227Ala)
c.193T>G
n.217T>G
c.908T>G (p.Phe303Cys)
19g.41332237A>GCA405998602TGFB1c.905T>C (p.Phe302Ser)
c.757T>C (p.Ser253Pro)
c.679T>C (p.Ser227Pro)
c.193T>C
n.217T>C
c.908T>C (p.Phe303Ser)
19g.41332237A>TCA405998603TGFB1c.905T>A (p.Phe302Tyr)
c.757T>A (p.Ser253Thr)
c.679T>A (p.Ser227Thr)
c.193T>A
n.217T>A
c.908T>A (p.Phe303Tyr)
19g.41332238A=CA2336416465TGFB1c.904T= (p.Phe302=)
c.756T= (p.Thr252=)
c.678T= (p.Thr226=)
c.192T=
n.216T=
c.907T= (p.Phe303=)
19g.41332238A>CCA405998604TGFB1c.904T>G (p.Phe302Val)
c.756T>G (p.Thr252=)
c.678T>G (p.Thr226=)
c.192T>G
n.216T>G
c.907T>G (p.Phe303Val)
19g.41332238A>GCA405998605TGFB1c.904T>C (p.Phe302Leu)
c.756T>C (p.Thr252=)
c.678T>C (p.Thr226=)
c.192T>C
n.216T>C
c.907T>C (p.Phe303Leu)
19g.41332238A>TCA405998606TGFB1c.904T>A (p.Phe302Ile)
c.756T>A (p.Thr252=)
c.678T>A (p.Thr226=)
c.192T>A
n.216T>A
c.907T>A (p.Phe303Ile)
 dbSNP
19g.41332239G>ACA507554562TGFB1c.903C>T (p.Asp301=)
c.755C>T (p.Thr252Ile)
c.677C>T (p.Thr226Ile)
c.191C>T
n.215C>T
c.906C>T (p.Asp302=)
19g.41332239G>CCA405998607TGFB1c.903C>G (p.Asp301Glu)
c.755C>G (p.Thr252Ser)
c.677C>G (p.Thr226Ser)
c.191C>G
n.215C>G
c.906C>G (p.Asp302Glu)
19g.41332239G>TCA405998608TGFB1c.903C>A (p.Asp301Glu)
c.755C>A (p.Thr252Asn)
c.677C>A (p.Thr226Asn)
c.191C>A
n.215C>A
c.906C>A (p.Asp302Glu)
19g.41332240T>ACA405998609TGFB1c.902A>T (p.Asp301Val)
c.754A>T (p.Thr252Ser)
c.676A>T (p.Thr226Ser)
c.190A>T
n.214A>T
c.905A>T (p.Asp302Val)
19g.41332240T>CCA405998610TGFB1c.902A>G (p.Asp301Gly)
c.754A>G (p.Thr252Ala)
c.676A>G (p.Thr226Ala)
c.190A>G
n.214A>G
c.905A>G (p.Asp302Gly)
19g.41332240T>GCA405998611TGFB1c.902A>C (p.Asp301Ala)
c.754A>C (p.Thr252Pro)
c.676A>C (p.Thr226Pro)
c.190A>C
n.214A>C
c.905A>C (p.Asp302Ala)
19g.41332241C>ACA405998612TGFB1c.901G>T (p.Asp301Tyr)
c.753G>T (p.Leu251Phe)
c.675G>T (p.Leu225Phe)
c.189G>T
n.213G>T
c.904G>T (p.Asp302Tyr)
19g.41332241C=CA2336416466TGFB1c.901G= (p.Asp301=)
c.753G= (p.Leu251=)
c.675G= (p.Leu225=)
c.189G=
n.213G=
c.904G= (p.Asp302=)
19g.41332241C>GCA405998614TGFB1c.901G>C (p.Asp301His)
c.753G>C (p.Leu251Phe)
c.675G>C (p.Leu225Phe)
c.189G>C
n.213G>C
c.904G>C (p.Asp302His)
 ClinVar dbSNP gnomAD v4
19g.41332241C>TCA405998613TGFB1c.901G>A (p.Asp301Asn)
c.753G>A (p.Leu251=)
c.675G>A (p.Leu225=)
c.189G>A
n.213G>A
c.904G>A (p.Asp302Asn)
19g.41332242A>CCA405998615TGFB1c.900T>G (p.Ile300Met)
c.752T>G (p.Leu251Trp)
c.674T>G (p.Leu225Trp)
c.188T>G
n.212T>G
c.903T>G (p.Ile301Met)
19g.41332242A>GCA507554563TGFB1c.900T>C (p.Ile300=)
c.752T>C (p.Leu251Ser)
c.674T>C (p.Leu225Ser)
c.188T>C
n.212T>C
c.903T>C (p.Ile301=)
 gnomAD v4
19g.41332242A>TCA507554564TGFB1c.900T>A (p.Ile300=)
c.752T>A (p.Leu251Ter)
c.674T>A (p.Leu225Ter)
c.188T>A
n.212T>A
c.903T>A (p.Ile301=)
 gnomAD v4
19g.41332243A=CA2336416467TGFB1c.899T= (p.Ile300=)
c.751T= (p.Leu251=)
c.673T= (p.Leu225=)
c.187T=
n.211T=
c.902T= (p.Ile301=)
19g.41332243A>CCA405998616TGFB1c.899T>G (p.Ile300Ser)
c.751T>G (p.Leu251Val)
c.673T>G (p.Leu225Val)
c.187T>G
n.211T>G
c.902T>G (p.Ile301Ser)
19g.41332243A>GCA308562884TGFB1c.899T>C (p.Ile300Thr)
c.751T>C (p.Leu251=)
c.673T>C (p.Leu225=)
c.187T>C
n.211T>C
c.902T>C (p.Ile301Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.41332243A>TCA405998617TGFB1c.899T>A (p.Ile300Asn)
c.751T>A (p.Leu251Met)
c.673T>A (p.Leu225Met)
c.187T>A
n.211T>A
c.902T>A (p.Ile301Asn)
 dbSNP
19g.41332244T>ACA405998618TGFB1c.898A>T (p.Ile300Phe)
c.750A>T (p.Thr250=)
c.672A>T (p.Thr224=)
c.186A>T
n.210A>T
c.901A>T (p.Ile301Phe)
19g.41332244T>CCA405998619TGFB1c.898A>G (p.Ile300Val)
c.750A>G (p.Thr250=)
c.672A>G (p.Thr224=)
c.186A>G
n.210A>G
c.901A>G (p.Ile301Val)
 dbSNP gnomAD v4
19g.41332244T>GCA405998620TGFB1c.898A>C (p.Ile300Leu)
c.750A>C (p.Thr250=)
c.672A>C (p.Thr224=)
c.186A>C
n.210A>C
c.901A>C (p.Ile301Leu)
19g.41332245G>ACA507554565TGFB1c.897C>T (p.Tyr299=)
c.749C>T (p.Thr250Ile)
c.671C>T (p.Thr224Ile)
c.185C>T
n.209C>T
c.900C>T (p.Tyr300=)
 gnomAD v4
19g.41332245G>CCA16607838TGFB1c.897C>G (p.Tyr299Ter)
c.749C>G (p.Thr250Arg)
c.671C>G (p.Thr224Arg)
c.185C>G
n.209C>G
c.900C>G (p.Tyr300Ter)
 ClinVar dbSNP
19g.41332245G=CA2336416468TGFB1c.897C= (p.Tyr299=)
c.749C= (p.Thr250=)
c.671C= (p.Thr224=)
c.185C=
n.209C=
c.900C= (p.Tyr300=)
19g.41332245G>TCA405998622TGFB1c.897C>A (p.Tyr299Ter)
c.749C>A (p.Thr250Lys)
c.671C>A (p.Thr224Lys)
c.185C>A
n.209C>A
c.900C>A (p.Tyr300Ter)

Number of alleles fetched