Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41332151T>A | CA405998297 | TGFB1 | c.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) | |
19 | g.41332151T>C | CA9459936 | TGFB1 | c.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 |
19 | g.41332151T>G | CA405998295 | TGFB1 | c.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) | |
19 | g.41332151T= | CA2336416427 | TGFB1 | c.991A= (p.Ser331=) c.843A= (p.Gly281=) c.765A= (p.Gly255=) c.279A= n.303A= c.994A= (p.Ser332=) | |
19 | g.41332152C>A | CA405998299 | TGFB1 | c.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) | |
19 | g.41332152C>G | CA405998301 | TGFB1 | c.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) | |
19 | g.41332152C>T | CA405998303 | TGFB1 | c.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) | |
19 | g.41332153C>A | CA405998304 | TGFB1 | c.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) | |
19 | g.41332153C>G | CA405998306 | TGFB1 | c.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) | |
19 | g.41332153C>T | CA405998308 | TGFB1 | c.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) | |
19 | g.41332154A>C | CA405998310 | TGFB1 | c.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) | |
19 | g.41332154A>G | CA405998314 | TGFB1 | c.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) | |
19 | g.41332154A>T | CA405998312 | TGFB1 | c.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) | |
19 | g.41332156del | CA2585296139 | TGFB1 | c.988del (p.Trp330GlyfsTer?) c.840del (p.Phe280LeufsTer?) c.762del (p.Phe254LeufsTer18) c.276del n.300del c.991del (p.Trp331GlyfsTer?) | gnomAD v4 |
19 | g.41332155A>C | CA405998315 | TGFB1 | c.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) | |
19 | g.41332155A>G | CA507554522 | TGFB1 | c.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=) | |
19 | g.41332155A>T | CA507554523 | TGFB1 | c.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=) | |
19 | g.41332156A>C | CA405998316 | TGFB1 | c.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) | |
19 | g.41332156A>G | CA405998317 | TGFB1 | c.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) | |
19 | g.41332156A>T | CA405998319 | TGFB1 | c.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) | |
19 | g.41332157T>A | CA405998324 | TGFB1 | c.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) | |
19 | g.41332157T>C | CA405998323 | TGFB1 | c.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) | |
19 | g.41332157T>G | CA405998321 | TGFB1 | c.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) | |
19 | g.41332158G>A | CA507554524 | TGFB1 | c.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 |
19 | g.41332158G>C | CA405998325 | TGFB1 | c.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) | |
19 | g.41332158G>T | CA405998327 | TGFB1 | c.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) | |
19 | g.41332159T>A | CA405998329 | TGFB1 | c.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) | |
19 | g.41332159T>C | CA405998331 | TGFB1 | c.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 |
19 | g.41332159T>G | CA405998332 | TGFB1 | c.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) | |
19 | g.41332160A>C | CA405998337 | TGFB1 | c.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) | |
19 | g.41332160A>G | CA405998335 | TGFB1 | c.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) | |
19 | g.41332160A>T | CA405998333 | TGFB1 | c.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) | |
19 | g.41332161G>A | CA507554525 | TGFB1 | c.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=) | |
19 | g.41332161G>C | CA507554526 | TGFB1 | c.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=) | |
19 | g.41332161G>T | CA507554527 | TGFB1 | c.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=) | |
19 | g.41332162G>A | CA405998339 | TGFB1 | c.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) | |
19 | g.41332162G>C | CA405998340 | TGFB1 | c.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) | |
19 | g.41332162G>T | CA405998341 | TGFB1 | c.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) | |
19 | g.41332163G>A | CA405998343 | TGFB1 | c.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) | |
19 | g.41332163G>C | CA405998344 | TGFB1 | c.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) | |
19 | g.41332163G= | CA2336416428 | TGFB1 | c.979C= (p.Pro327=) c.831C= (p.Ala277=) c.753C= (p.Ala251=) c.267C= n.291C= c.982C= (p.Pro328=) | |
19 | g.41332163G>T | CA308562799 | TGFB1 | c.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 |
19 | g.41332164G>A | CA9459937 | TGFB1 | c.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 |
19 | g.41332164G>C | CA405998347 | TGFB1 | c.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) | |
19 | g.41332164G= | CA2336416429 | TGFB1 | c.978C= (p.Cys326=) c.830C= (p.Ala277=) c.752C= (p.Ala251=) c.266C= n.290C= c.981C= (p.Cys327=) | |
19 | g.41332164G>T | CA405998348 | TGFB1 | c.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) | |
19 | g.41332165C>A | CA405998350 | TGFB1 | c.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) | |
19 | g.41332165C>G | CA405998352 | TGFB1 | c.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) | |
19 | g.41332165C>T | CA405998353 | TGFB1 | c.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) | |
19 | g.41332166A>C | CA405998355 | TGFB1 | c.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) | |
19 | g.41332166A>G | CA405998357 | TGFB1 | c.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) | |
19 | g.41332166A>T | CA405998358 | TGFB1 | c.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) | |
19 | g.41332167G>A | CA507554528 | TGFB1 | c.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=) | |
19 | g.41332167G>C | CA507554529 | TGFB1 | c.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=) | |
19 | g.41332167G>T | CA507554530 | TGFB1 | c.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=) | |
19 | g.41332168G>A | CA405998360 | TGFB1 | c.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 |
19 | g.41332168G>C | CA405998361 | TGFB1 | c.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) | |
19 | g.41332168G= | CA2336416430 | TGFB1 | c.974C= (p.Pro325=) c.826C= (p.Pro276=) c.748C= (p.Pro250=) c.262C= n.286C= c.977C= (p.Pro326=) | |
19 | g.41332168G>T | CA405998362 | TGFB1 | c.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) | |
19 | g.41332169G>A | CA405998365 | TGFB1 | c.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) | |
19 | g.41332169G>C | CA9459938 | TGFB1 | c.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 |
19 | g.41332169G= | CA2336416431 | TGFB1 | c.973C= (p.Pro325=) c.825C= (p.Gly275=) c.747C= (p.Gly249=) c.261C= n.285C= c.976C= (p.Pro326=) | |
19 | g.41332169G>T | CA405998367 | TGFB1 | c.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) | |
19 | g.41332170C>A | CA507554531 | TGFB1 | c.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=) | |
19 | g.41332170C= | CA2336416432 | TGFB1 | c.972G= (p.Gly324=) c.824G= (p.Gly275=) c.746G= (p.Gly249=) c.260G= n.284G= c.975G= (p.Gly325=) | |
19 | g.41332170C>G | CA507554532 | TGFB1 | c.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=) | |
19 | g.41332170C>T | CA9459939 | TGFB1 | c.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 |
19 | g.41332171C>A | CA405998369 | TGFB1 | c.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) | |
19 | g.41332171C>G | CA405998372 | TGFB1 | c.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) | |
19 | g.41332171C>T | CA405998371 | TGFB1 | c.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) | |
19 | g.41332172C>A | CA405998374 | TGFB1 | c.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) | |
19 | g.41332172C= | CA2336416433 | TGFB1 | c.970G= (p.Gly324=) c.822G= (p.Ser274=) c.744G= (p.Ser248=) c.258G= n.282G= c.973G= (p.Gly325=) | |
19 | g.41332172C>G | CA405998375 | TGFB1 | c.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) | |
19 | g.41332172C>T | CA9459940 | TGFB1 | c.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 |
19 | g.41332173G>A | CA9459941 | TGFB1 | c.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 |
19 | g.41332173G>C | CA507554534 | TGFB1 | c.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=) | |
19 | g.41332173G= | CA2336416434 | TGFB1 | c.969C= (p.Leu323=) c.821C= (p.Ser274=) c.743C= (p.Ser248=) c.257C= n.281C= c.972C= (p.Leu324=) | |
19 | g.41332173G>T | CA507554533 | TGFB1 | c.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=) | |
19 | g.41332174A>C | CA405998378 | TGFB1 | c.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) | |
19 | g.41332174A>G | CA405998380 | TGFB1 | c.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) | |
19 | g.41332174A>T | CA405998382 | TGFB1 | c.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) | |
19 | g.41332175G>A | CA9459942 | TGFB1 | c.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 |
19 | g.41332175G>C | CA405998384 | TGFB1 | c.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) | |
19 | g.41332175G= | CA2336416435 | TGFB1 | c.967C= (p.Leu323=) c.819C= (p.Ala273=) c.741C= (p.Ala247=) c.255C= n.279C= c.970C= (p.Leu324=) | |
19 | g.41332175G>T | CA405998386 | TGFB1 | c.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) | |
19 | g.41332176G>A | CA507554535 | TGFB1 | c.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=) | |
19 | g.41332176G>C | CA405998388 | TGFB1 | c.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) | |
19 | g.41332176G>T | CA405998390 | TGFB1 | c.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) | |
19 | g.41332177C>A | CA405998395 | TGFB1 | c.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) | |
19 | g.41332177C>G | CA405998391 | TGFB1 | c.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) | |
19 | g.41332177C>T | CA405998393 | TGFB1 | c.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) | |
19 | g.41332178A>C | CA405998396 | TGFB1 | c.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) | |
19 | g.41332178A>G | CA405998397 | TGFB1 | c.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) | |
19 | g.41332178A>T | CA405998399 | TGFB1 | c.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) | |
19 | g.41332179G>A | CA308562827 | TGFB1 | c.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 |
19 | g.41332179G>C | CA405998401 | TGFB1 | c.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) | |
19 | g.41332179G= | CA2336416436 | TGFB1 | c.963C= (p.Phe321=) c.815C= (p.Ser272=) c.737C= (p.Ser246=) c.251C= n.275C= c.966C= (p.Phe322=) | |
19 | g.41332179G>T | CA405998403 | TGFB1 | c.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) | |
19 | g.41332180A>C | CA405998404 | TGFB1 | c.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) | |
19 | g.41332180A>G | CA405998406 | TGFB1 | c.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) | |
19 | g.41332180A>T | CA405998407 | TGFB1 | c.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) | |
19 | g.41332181A= | CA2336416437 | TGFB1 | c.961T= (p.Phe321=) c.813T= (p.Thr271=) c.735T= (p.Thr245=) c.249T= n.273T= c.964T= (p.Phe322=) | |
19 | g.41332181A>C | CA405998409 | TGFB1 | c.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) | |
19 | g.41332181A>G | CA9459943 | TGFB1 | c.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 |
19 | g.41332181A>T | CA405998411 | TGFB1 | c.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) | |
19 | g.41332182G>A | CA507554536 | TGFB1 | c.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 |
19 | g.41332182G>C | CA405998413 | TGFB1 | c.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) | |
19 | g.41332182G= | CA2336416438 | TGFB1 | c.960C= (p.Asn320=) c.812C= (p.Thr271=) c.734C= (p.Thr245=) c.248C= n.272C= c.963C= (p.Asn321=) | |
19 | g.41332182G>T | CA405998415 | TGFB1 | c.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) | |
19 | g.41332183T>A | CA405998416 | TGFB1 | c.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) | |
19 | g.41332183T>C | CA405998419 | TGFB1 | c.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 |
19 | g.41332183T>G | CA405998417 | TGFB1 | c.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) | |
19 | g.41332184T>A | CA405998421 | TGFB1 | c.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) | |
19 | g.41332184T>C | CA405998423 | TGFB1 | c.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) | |
19 | g.41332184T>G | CA405998424 | TGFB1 | c.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) | |
19 | g.41332185G>A | CA507554537 | TGFB1 | c.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=) | |
19 | g.41332185G>C | CA9459944 | TGFB1 | c.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 |
19 | g.41332185G= | CA2336416439 | TGFB1 | c.957C= (p.Ala319=) c.809C= (p.Pro270=) c.731C= (p.Pro244=) c.245C= n.269C= c.960C= (p.Ala320=) | |
19 | g.41332185G>T | CA507554538 | TGFB1 | c.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=) | |
19 | g.41332186G>A | CA405998426 | TGFB1 | c.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) | |
19 | g.41332186G>C | CA405998428 | TGFB1 | c.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) | |
19 | g.41332186G>T | CA405998430 | TGFB1 | c.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) | |
19 | g.41332187C>A | CA405998435 | TGFB1 | c.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) | |
19 | g.41332187C>G | CA405998432 | TGFB1 | c.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) | |
19 | g.41332187C>T | CA405998433 | TGFB1 | c.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) | |
19 | g.41332188A>C | CA405998436 | TGFB1 | c.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) | |
19 | g.41332188A>G | CA507554539 | TGFB1 | c.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 |
19 | g.41332188A>T | CA405998438 | TGFB1 | c.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) | |
19 | g.41332189T>A | CA405998440 | TGFB1 | c.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) | |
19 | g.41332189T>C | CA9459945 | TGFB1 | c.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 |
19 | g.41332189T>G | CA405998442 | TGFB1 | c.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) | |
19 | g.41332189T= | CA2336416440 | TGFB1 | c.953A= (p.His318=) c.805A= (p.Met269=) c.727A= (p.Met243=) c.241A= n.265A= c.956A= (p.His319=) | |
19 | g.41332190G>A | CA405998443 | TGFB1 | c.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) | |
19 | g.41332190G>C | CA405998445 | TGFB1 | c.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) | |
19 | g.41332190G>T | CA405998444 | TGFB1 | c.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) | |
19 | g.41332191G>A | CA507554540 | TGFB1 | c.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 |
19 | g.41332191G>C | CA405998447 | TGFB1 | c.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) | |
19 | g.41332191G= | CA2336416441 | TGFB1 | c.951C= (p.Tyr317=) c.803C= (p.Thr268=) c.725C= (p.Thr242=) c.239C= n.263C= c.954C= (p.Tyr318=) | |
19 | g.41332191G>T | CA405998449 | TGFB1 | c.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) | |
19 | g.41332192T>A | CA405998450 | TGFB1 | c.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) | |
19 | g.41332192T>C | CA405998451 | TGFB1 | c.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) | |
19 | g.41332192T>G | CA405998453 | TGFB1 | c.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) | |
19 | g.41332192_41332193delinsTA | CA2336416442 | TGFB1 | c.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=) | |
19 | g.41332193del | CA633470144 | TGFB1 | c.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 |
19 | g.41332193A>C | CA405998455 | TGFB1 | c.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) | |
19 | g.41332193A>G | CA405998457 | TGFB1 | c.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) | |
19 | g.41332193A>T | CA405998458 | TGFB1 | c.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) | |
19 | g.41332194G>A | CA507554543 | TGFB1 | c.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=) | |
19 | g.41332194G>C | CA507554542 | TGFB1 | c.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 |
19 | g.41332194G= | CA2336416443 | TGFB1 | c.948C= (p.Gly316=) c.800C= (p.Ala267=) c.722C= (p.Ala241=) c.236C= n.260C= c.951C= (p.Gly317=) | |
19 | g.41332194G>T | CA507554541 | TGFB1 | c.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=) | |
19 | g.41332195C>A | CA405998459 | TGFB1 | c.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) | |
19 | g.41332195C= | CA2336416444 | TGFB1 | c.947G= (p.Gly316=) c.799G= (p.Ala267=) c.721G= (p.Ala241=) c.235G= n.259G= c.950G= (p.Gly317=) | |
19 | g.41332195C>G | CA405998461 | TGFB1 | c.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) | |
19 | g.41332195C>T | CA405998463 | TGFB1 | c.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 |
19 | g.41332196C>A | CA405998465 | TGFB1 | c.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) | |
19 | g.41332196C>G | CA405998467 | TGFB1 | c.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) | |
19 | g.41332196C>T | CA405998466 | TGFB1 | c.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) | |
19 | g.41332197C>A | CA405998469 | TGFB1 | c.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) | |
19 | g.41332197C= | CA2336416445 | TGFB1 | c.945G= (p.Lys315=) c.797G= (p.Arg266=) c.719G= (p.Arg240=) c.233G= n.257G= c.948G= (p.Lys316=) | |
19 | g.41332197C>G | CA9459946 | TGFB1 | c.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 |
19 | g.41332197C>T | CA507554544 | TGFB1 | c.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=) | |
19 | g.41332198T>A | CA405998470 | TGFB1 | c.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 |
19 | g.41332198T>C | CA9459947 | TGFB1 | c.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 |
19 | g.41332198T>G | CA405998472 | TGFB1 | c.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) | |
19 | g.41332198T= | CA2336416446 | TGFB1 | c.944A= (p.Lys315=) c.796A= (p.Arg266=) c.718A= (p.Arg240=) c.232A= n.256A= c.947A= (p.Lys316=) | |
19 | g.41332199T>A | CA405998473 | TGFB1 | c.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) | |
19 | g.41332199T>C | CA405998475 | TGFB1 | c.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) | |
19 | g.41332199T>G | CA405998477 | TGFB1 | c.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) | |
19 | g.41332200G>A | CA9459948 | TGFB1 | c.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 |
19 | g.41332200G>C | CA507554545 | TGFB1 | c.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=) | |
19 | g.41332200G= | CA2336416447 | TGFB1 | c.942C= (p.Pro314=) c.794C= (p.Pro265=) c.716C= (p.Pro239=) c.230C= n.254C= c.945C= (p.Pro315=) | |
19 | g.41332200G>T | CA507554546 | TGFB1 | c.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=) | |
19 | g.41332201G>A | CA405998480 | TGFB1 | c.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) | |
19 | g.41332201G>C | CA405998481 | TGFB1 | c.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) | |
19 | g.41332201G>T | CA405998483 | TGFB1 | c.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) | |
19 | g.41332202G>A | CA405998488 | TGFB1 | c.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) | |
19 | g.41332202G>C | CA405998485 | TGFB1 | c.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) | |
19 | g.41332202G>T | CA405998487 | TGFB1 | c.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) | |
19 | g.41332203C>A | CA308562858 | TGFB1 | c.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 |
19 | g.41332203C= | CA2336416448 | TGFB1 | c.939G= (p.Glu313=) c.791G= (p.Ser264=) c.713G= (p.Ser238=) c.227G= n.251G= c.942G= (p.Glu314=) | |
19 | g.41332203C>G | CA405998490 | TGFB1 | c.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) | |
19 | g.41332203C>T | CA507554547 | TGFB1 | c.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=) | |
19 | g.41332204T>A | CA405998492 | TGFB1 | c.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) | |
19 | g.41332204T>C | CA405998494 | TGFB1 | c.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) | |
19 | g.41332204T>G | CA405998495 | TGFB1 | c.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) | |
19 | g.41332205C>A | CA405998497 | TGFB1 | c.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) | |
19 | g.41332205C= | CA2336416449 | TGFB1 | c.937G= (p.Glu313=) c.789G= (p.Thr263=) c.711G= (p.Thr237=) c.225G= n.249G= c.940G= (p.Glu314=) | |
19 | g.41332205C>G | CA405998498 | TGFB1 | c.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 |
19 | g.41332205C>T | CA405998499 | TGFB1 | c.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 |
19 | g.41332206G>A | CA9459949 | TGFB1 | c.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 |
19 | g.41332206G>C | CA9459950 | TGFB1 | c.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 |
19 | g.41332206G= | CA2336416450 | TGFB1 | c.936C= (p.His312=) c.788C= (p.Thr263=) c.710C= (p.Thr237=) c.224C= n.248C= c.939C= (p.His313=) | |
19 | g.41332206G>T | CA405998503 | TGFB1 | c.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) | |
19 | g.41332207T>A | CA405998508 | TGFB1 | c.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) | |
19 | g.41332207T>C | CA405998506 | TGFB1 | c.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) | |
19 | g.41332207T>G | CA405998504 | TGFB1 | c.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) | |
19 | g.41332208G>A | CA405998509 | TGFB1 | c.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 |
19 | g.41332208G>C | CA405998511 | TGFB1 | c.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) | |
19 | g.41332208G>T | CA405998513 | TGFB1 | c.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) | |
19 | g.41332209G>A | CA507554548 | TGFB1 | c.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=) | |
19 | g.41332209G>C | CA405998514 | TGFB1 | c.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) | |
19 | g.41332209G>T | CA507554549 | TGFB1 | c.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=) | |
19 | g.41332210A>C | CA405998516 | TGFB1 | c.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) | |
19 | g.41332210A>G | CA405998517 | TGFB1 | c.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) | |
19 | g.41332210A>T | CA405998519 | TGFB1 | c.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) | |
19 | g.41332211T>A | CA405998521 | TGFB1 | c.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) | |
19 | g.41332211T>C | CA405998522 | TGFB1 | c.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 |
19 | g.41332211T>G | CA405998524 | TGFB1 | c.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) | |
19 | g.41332212C>A | CA405998526 | TGFB1 | c.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) | |
19 | g.41332212C>G | CA405998528 | TGFB1 | c.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) | |
19 | g.41332212C>T | CA405998529 | TGFB1 | c.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) | |
19 | g.41332213C>A | CA405998534 | TGFB1 | c.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) | |
19 | g.41332213C>G | CA405998532 | TGFB1 | c.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) | |
19 | g.41332213C>T | CA405998531 | TGFB1 | c.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) | |
19 | g.41332214A>C | CA405998535 | TGFB1 | c.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) | |
19 | g.41332214A>G | CA405998536 | TGFB1 | c.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) | |
19 | g.41332214A>T | CA405998537 | TGFB1 | c.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 |
19 | g.41332215C>A | CA405998540 | TGFB1 | c.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) | |
19 | g.41332215C>G | CA405998541 | TGFB1 | c.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) | |
19 | g.41332215C>T | CA507554550 | TGFB1 | c.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 |
19 | g.41332216T>A | CA405998543 | TGFB1 | c.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) | |
19 | g.41332216T>C | CA308562868 | TGFB1 | c.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 |
19 | g.41332216T>G | CA405998545 | TGFB1 | c.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) | |
19 | g.41332216T= | CA2336416451 | TGFB1 | c.926A= (p.Lys309=) c.778A= (p.Ser260=) c.700A= (p.Ser234=) c.214A= n.238A= c.929A= (p.Lys310=) | |
19 | g.41332217T>A | CA405998547 | TGFB1 | c.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) | |
19 | g.41332217T>C | CA405998549 | TGFB1 | c.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 |
19 | g.41332217T>G | CA405998550 | TGFB1 | c.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) | |
19 | g.41332218C>A | CA405998552 | TGFB1 | c.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) | |
19 | g.41332218C>G | CA405998553 | TGFB1 | c.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) | |
19 | g.41332218C>T | CA405998554 | TGFB1 | c.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) | |
19 | g.41332219C>A | CA405998557 | TGFB1 | c.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) | |
19 | g.41332219C>G | CA405998559 | TGFB1 | c.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) | |
19 | g.41332219C>T | CA405998555 | TGFB1 | c.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) | |
19 | g.41332220A= | CA2336416452 | TGFB1 | c.922T= (p.Trp308=) c.774T= (p.Ala258=) c.696T= (p.Ala232=) c.210T= n.234T= c.925T= (p.Trp309=) | |
19 | g.41332220A>C | CA405998560 | TGFB1 | c.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) | |
19 | g.41332220A>G | CA9459951 | TGFB1 | c.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 |
19 | g.41332220A>T | CA405998563 | TGFB1 | c.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) | |
19 | g.41332221G>A | CA507554551 | TGFB1 | c.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 |
19 | g.41332221G>C | CA507554552 | TGFB1 | c.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 |
19 | g.41332221G= | CA2336416453 | TGFB1 | c.921C= (p.Gly307=) c.773C= (p.Ala258=) c.695C= (p.Ala232=) c.209C= n.233C= c.924C= (p.Gly308=) | |
19 | g.41332221G>T | CA507554553 | TGFB1 | c.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=) | |
19 | g.41332222C>A | CA405998565 | TGFB1 | c.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 |
19 | g.41332222C= | CA2336416454 | TGFB1 | c.920G= (p.Gly307=) c.772G= (p.Ala258=) c.694G= (p.Ala232=) c.208G= n.232G= c.923G= (p.Gly308=) | |
19 | g.41332222C>G | CA405998566 | TGFB1 | c.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) | |
19 | g.41332222C>T | CA405998567 | TGFB1 | c.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 |
19 | g.41332223C>A | CA405998570 | TGFB1 | c.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) | |
19 | g.41332223C= | CA2336416455 | TGFB1 | c.919G= (p.Gly307=) c.771G= (p.Ser257=) c.693G= (p.Ser231=) c.207G= n.231G= c.922G= (p.Gly308=) | |
19 | g.41332223C>G | CA405998571 | TGFB1 | c.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) | |
19 | g.41332223C>T | CA405998573 | TGFB1 | c.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 |
19 | g.41332224G>A | CA246595 | TGFB1 | c.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 |
19 | g.41332224G>C | CA507554555 | TGFB1 | c.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 |
19 | g.41332224G= | CA2336416456 | TGFB1 | c.918C= (p.Leu306=) c.770C= (p.Ser257=) c.692C= (p.Ser231=) c.206C= n.230C= c.921C= (p.Leu307=) | |
19 | g.41332224G>T | CA507554554 | TGFB1 | c.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=) | |
19 | g.41332225A>C | CA405998574 | TGFB1 | c.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) | |
19 | g.41332225A>G | CA405998575 | TGFB1 | c.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) | |
19 | g.41332225A>T | CA405998576 | TGFB1 | c.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) | |
19 | g.41332226G>A | CA308562873 | TGFB1 | c.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 |
19 | g.41332226G>C | CA405998578 | TGFB1 | c.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) | |
19 | g.41332226G= | CA2336416457 | TGFB1 | c.916C= (p.Leu306=) c.768C= (p.Thr256=) c.690C= (p.Thr230=) c.204C= n.228C= c.919C= (p.Leu307=) | |
19 | g.41332226G>T | CA405998577 | TGFB1 | c.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 |
19 | g.41332227G>A | CA507554556 | TGFB1 | c.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=) | |
19 | g.41332227G>C | CA405998579 | TGFB1 | c.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) | |
19 | g.41332227G>T | CA405998580 | TGFB1 | c.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) | |
19 | g.41332228T>A | CA405998581 | TGFB1 | c.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) | |
19 | g.41332228T>C | CA405998582 | TGFB1 | c.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) | |
19 | g.41332228T>G | CA405998583 | TGFB1 | c.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 |
19 | g.41332228T= | CA2336416458 | TGFB1 | c.914A= (p.Asp305=) c.766A= (p.Thr256=) c.688A= (p.Thr230=) c.202A= n.226A= c.917A= (p.Asp306=) | |
19 | g.41332229C>A | CA405998584 | TGFB1 | c.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) | |
19 | g.41332229C>G | CA405998585 | TGFB1 | c.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) | |
19 | g.41332229C>T | CA405998586 | TGFB1 | c.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 |
19 | g.41332230C>A | CA405998587 | TGFB1 | c.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) | |
19 | g.41332230C= | CA2336416460 | TGFB1 | c.912G= (p.Lys304=) c.764G= (p.Arg255=) c.686G= (p.Arg229=) c.200G= n.224G= c.915G= (p.Lys305=) | |
19 | g.41332230C>G | CA405998588 | TGFB1 | c.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) | |
19 | g.41332230C>T | CA507554557 | TGFB1 | c.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 |
19 | g.41332230_41332231delinsCT | CA2336416459 | TGFB1 | c.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=) | |
19 | g.41332231T>A | CA405998591 | TGFB1 | c.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) | |
19 | g.41332231T>C | CA405998590 | TGFB1 | c.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) | |
19 | g.41332231T>G | CA405998589 | TGFB1 | c.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) | |
19 | g.41332232del | CA882310624 | TGFB1 | c.911del (p.Lys304ArgfsTer?) c.763del (p.Arg255GlyfsTer?) c.685del (p.Arg229GlyfsTer?) c.199del n.223del c.914del (p.Lys305ArgfsTer?) | dbSNP |
19 | g.41332232T>A | CA405998592 | TGFB1 | c.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) | |
19 | g.41332232T>C | CA405998594 | TGFB1 | c.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 |
19 | g.41332232T>G | CA405998593 | TGFB1 | c.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 |
19 | g.41332233G>A | CA507554558 | TGFB1 | c.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=) | |
19 | g.41332233G>C | CA507554559 | TGFB1 | c.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 |
19 | g.41332233G= | CA2336416461 | TGFB1 | c.909C= (p.Arg303=) c.761C= (p.Ala254=) c.683C= (p.Ala228=) c.197C= n.221C= c.912C= (p.Arg304=) | |
19 | g.41332233G>T | CA507554560 | TGFB1 | c.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=) | |
19 | g.41332234C>A | CA405998595 | TGFB1 | c.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 |
19 | g.41332234C= | CA2336416462 | TGFB1 | c.908G= (p.Arg303=) c.760G= (p.Ala254=) c.682G= (p.Ala228=) c.196G= n.220G= c.911G= (p.Arg304=) | |
19 | g.41332234C>G | CA405998596 | TGFB1 | c.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) | |
19 | g.41332234C>T | CA9459952 | TGFB1 | c.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 |
19 | g.41332235G>A | CA9459953 | TGFB1 | c.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 |
19 | g.41332235G>C | CA405998598 | TGFB1 | c.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 |
19 | g.41332235G= | CA2336416463 | TGFB1 | c.907C= (p.Arg303=) c.759C= (p.Ser253=) c.681C= (p.Ser227=) c.195C= n.219C= c.910C= (p.Arg304=) | |
19 | g.41332235G>T | CA405998597 | TGFB1 | c.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 |
19 | g.41332236G>A | CA507554561 | TGFB1 | c.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 |
19 | g.41332236G>C | CA405998599 | TGFB1 | c.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) | |
19 | g.41332236G= | CA2336416464 | TGFB1 | c.906C= (p.Phe302=) c.758C= (p.Ser253=) c.680C= (p.Ser227=) c.194C= n.218C= c.909C= (p.Phe303=) | |
19 | g.41332236G>T | CA405998600 | TGFB1 | c.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) | |
19 | g.41332237A>C | CA405998601 | TGFB1 | c.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) | |
19 | g.41332237A>G | CA405998602 | TGFB1 | c.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) | |
19 | g.41332237A>T | CA405998603 | TGFB1 | c.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) | |
19 | g.41332238A= | CA2336416465 | TGFB1 | c.904T= (p.Phe302=) c.756T= (p.Thr252=) c.678T= (p.Thr226=) c.192T= n.216T= c.907T= (p.Phe303=) | |
19 | g.41332238A>C | CA405998604 | TGFB1 | c.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) | |
19 | g.41332238A>G | CA405998605 | TGFB1 | c.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) | |
19 | g.41332238A>T | CA405998606 | TGFB1 | c.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 |
19 | g.41332239G>A | CA507554562 | TGFB1 | c.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=) | |
19 | g.41332239G>C | CA405998607 | TGFB1 | c.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) | |
19 | g.41332239G>T | CA405998608 | TGFB1 | c.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) | |
19 | g.41332240T>A | CA405998609 | TGFB1 | c.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) | |
19 | g.41332240T>C | CA405998610 | TGFB1 | c.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) | |
19 | g.41332240T>G | CA405998611 | TGFB1 | c.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) | |
19 | g.41332241C>A | CA405998612 | TGFB1 | c.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) | |
19 | g.41332241C= | CA2336416466 | TGFB1 | c.901G= (p.Asp301=) c.753G= (p.Leu251=) c.675G= (p.Leu225=) c.189G= n.213G= c.904G= (p.Asp302=) | |
19 | g.41332241C>G | CA405998614 | TGFB1 | c.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 |
19 | g.41332241C>T | CA405998613 | TGFB1 | c.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) | |
19 | g.41332242A>C | CA405998615 | TGFB1 | c.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) | |
19 | g.41332242A>G | CA507554563 | TGFB1 | c.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 |
19 | g.41332242A>T | CA507554564 | TGFB1 | c.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 |
19 | g.41332243A= | CA2336416467 | TGFB1 | c.899T= (p.Ile300=) c.751T= (p.Leu251=) c.673T= (p.Leu225=) c.187T= n.211T= c.902T= (p.Ile301=) | |
19 | g.41332243A>C | CA405998616 | TGFB1 | c.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) | |
19 | g.41332243A>G | CA308562884 | TGFB1 | c.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 |
19 | g.41332243A>T | CA405998617 | TGFB1 | c.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 |
19 | g.41332244T>A | CA405998618 | TGFB1 | c.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) | |
19 | g.41332244T>C | CA405998619 | TGFB1 | c.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 |
19 | g.41332244T>G | CA405998620 | TGFB1 | c.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) | |
19 | g.41332245G>A | CA507554565 | TGFB1 | c.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 |
19 | g.41332245G>C | CA16607838 | TGFB1 | c.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 |
19 | g.41332245G= | CA2336416468 | TGFB1 | c.897C= (p.Tyr299=) c.749C= (p.Thr250=) c.671C= (p.Thr224=) c.185C= n.209C= c.900C= (p.Tyr300=) | |
19 | g.41332245G>T | CA405998622 | TGFB1 | c.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) | |
19 | g.41332246T>A | CA405998627 | TGFB1 | c.896A>T (p.Tyr299Phe) c.748A>T (p.Thr250Ser) c.670A>T (p.Thr224Ser) c.184A>T n.208A>T c.899A>T (p.Tyr300Phe) | |
19 | g.41332246T>C | CA405998626 | TGFB1 | c.896A>G (p.Tyr299Cys) c.748A>G (p.Thr250Ala) c.670A>G (p.Thr224Ala) c.184A>G n.208A>G c.899A>G (p.Tyr300Cys) | |
19 | g.41332246T>G | CA405998624 | TGFB1 | c.896A>C (p.Tyr299Ser) c.748A>C (p.Thr250Pro) c.670A>C (p.Thr224Pro) c.184A>C n.208A>C c.899A>C (p.Tyr300Ser) | |
19 | g.41332247A>C | CA405998629 | TGFB1 | c.895T>G (p.Tyr299Asp) c.747T>G (p.Cys249Trp) c.669T>G (p.Cys223Trp) c.183T>G n.207T>G c.898T>G (p.Tyr300Asp) | |
19 | g.41332247A>G | CA405998630 | TGFB1 | c.895T>C (p.Tyr299His) c.747T>C (p.Cys249=) c.669T>C (p.Cys223=) c.183T>C n.207T>C c.898T>C (p.Tyr300His) | |
19 | g.41332247A>T | CA405998632 | TGFB1 | c.895T>A (p.Tyr299Asn) c.747T>A (p.Cys249Ter) c.669T>A (p.Cys223Ter) c.183T>A n.207T>A c.898T>A (p.Tyr300Asn) | |
19 | g.41332248C>A | CA507554566 | TGFB1 | c.894G>T (p.Leu298=) c.746G>T (p.Cys249Phe) c.668G>T (p.Cys223Phe) c.182G>T n.206G>T c.897G>T (p.Leu299=) | |
19 | g.41332248C= | CA2336416469 | TGFB1 | c.894G= (p.Leu298=) c.746G= (p.Cys249=) c.668G= (p.Cys223=) c.182G= n.206G= c.897G= (p.Leu299=) | |
19 | g.41332248C>G | CA507554567 | TGFB1 | c.894G>C (p.Leu298=) c.746G>C (p.Cys249Ser) c.668G>C (p.Cys223Ser) c.182G>C n.206G>C c.897G>C (p.Leu299=) | |
19 | g.41332248C>T | CA9459954 | TGFB1 | c.894G>A (p.Leu298=) c.746G>A (p.Cys249Tyr) c.668G>A (p.Cys223Tyr) c.182G>A n.206G>A c.897G>A (p.Leu299=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41332249A>C | CA405998635 | TGFB1 | c.893T>G (p.Leu298Arg) c.745T>G (p.Cys249Gly) c.667T>G (p.Cys223Gly) c.181T>G n.205T>G c.896T>G (p.Leu299Arg) | |
19 | g.41332249A>G | CA405998636 | TGFB1 | c.893T>C (p.Leu298Pro) c.745T>C (p.Cys249Arg) c.667T>C (p.Cys223Arg) c.181T>C n.205T>C c.896T>C (p.Leu299Pro) | ClinVar dbSNP |
19 | g.41332249A>T | CA405998638 | TGFB1 | c.893T>A (p.Leu298Gln) c.745T>A (p.Cys249Ser) c.667T>A (p.Cys223Ser) c.181T>A n.205T>A c.896T>A (p.Leu299Gln) | gnomAD v4 |
19 | g.41332250G>A | CA9459955 | TGFB1 | c.892C>T (p.Leu298=) c.744C>T (p.Ser248=) c.666C>T (p.Ser222=) c.180C>T n.204C>T c.895C>T (p.Leu299=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41332250G>C | CA405998640 | TGFB1 | c.892C>G (p.Leu298Val) c.744C>G (p.Ser248Arg) c.666C>G (p.Ser222Arg) c.180C>G n.204C>G c.895C>G (p.Leu299Val) | |
19 | g.41332250G= | CA2336416470 | TGFB1 | c.892C= (p.Leu298=) c.744C= (p.Ser248=) c.666C= (p.Ser222=) c.180C= n.204C= c.895C= (p.Leu299=) | |
19 | g.41332250G>T | CA405998642 | TGFB1 | c.892C>A (p.Leu298Met) c.744C>A (p.Ser248Arg) c.666C>A (p.Ser222Arg) c.180C>A n.204C>A c.895C>A (p.Leu299Met) | gnomAD v4 |
19 | g.41332251C>A | CA405998644 | TGFB1 | c.891G>T (p.Gln297His) c.743G>T (p.Ser248Ile) c.665G>T (p.Ser222Ile) c.179G>T n.203G>T c.894G>T (p.Gln298His) | |
19 | g.41332251C>G | CA405998646 | TGFB1 | c.891G>C (p.Gln297His) c.743G>C (p.Ser248Thr) c.665G>C (p.Ser222Thr) c.179G>C n.203G>C c.894G>C (p.Gln298His) | |
19 | g.41332251C>T | CA507554568 | TGFB1 | c.891G>A (p.Gln297=) c.743G>A (p.Ser248Asn) c.665G>A (p.Ser222Asn) c.179G>A n.203G>A c.894G>A (p.Gln298=) |