Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.67181254T>ACA490914402SMAD3c.87T>A (p.Val29=)
c.357T>A (p.Val119=)
c.672T>A (p.Val224=)
n.375T>A
c.540T>A (p.Val180=)
n.282+6670T>A
c.525T>A (p.Val175=)
15g.67181254T>CCA272385063SMAD3c.87T>C (p.Val29=)
c.357T>C (p.Val119=)
c.672T>C (p.Val224=)
n.375T>C
c.540T>C (p.Val180=)
n.282+6670T>C
c.525T>C (p.Val175=)
 ClinVar dbSNP gnomAD v4
15g.67181254T>GCA490914397SMAD3c.87T>G (p.Val29=)
c.357T>G (p.Val119=)
c.672T>G (p.Val224=)
n.375T>G
c.540T>G (p.Val180=)
n.282+6670T>G
c.525T>G (p.Val175=)
15g.67181254T=CA2184414456SMAD3c.87T= (p.Val29=)
c.357T= (p.Val119=)
c.672T= (p.Val224=)
n.375T=
c.540T= (p.Val180=)
n.282+6670T=
c.525T= (p.Val175=)
15g.67181255A>CCA392955852SMAD3c.88A>C (p.Thr30Pro)
c.358A>C (p.Thr120Pro)
c.673A>C (p.Thr225Pro)
n.376A>C
c.541A>C (p.Thr181Pro)
n.282+6671A>C
c.526A>C (p.Thr176Pro)
15g.67181255A>GCA392955851SMAD3c.88A>G (p.Thr30Ala)
c.358A>G (p.Thr120Ala)
c.673A>G (p.Thr225Ala)
n.376A>G
c.541A>G (p.Thr181Ala)
n.282+6671A>G
c.526A>G (p.Thr176Ala)
15g.67181255A>TCA392955850SMAD3c.88A>T (p.Thr30Ser)
c.358A>T (p.Thr120Ser)
c.673A>T (p.Thr225Ser)
n.376A>T
c.541A>T (p.Thr181Ser)
n.282+6671A>T
c.526A>T (p.Thr176Ser)
15g.67181256C>ACA392955853SMAD3c.89C>A (p.Thr30Asn)
c.359C>A (p.Thr120Asn)
c.674C>A (p.Thr225Asn)
n.377C>A
c.542C>A (p.Thr181Asn)
n.282+6672C>A
c.527C>A (p.Thr176Asn)
 dbSNP gnomAD v4
15g.67181256C=CA2184414461SMAD3c.89C= (p.Thr30=)
c.359C= (p.Thr120=)
c.674C= (p.Thr225=)
n.377C=
c.542C= (p.Thr181=)
n.282+6672C=
c.527C= (p.Thr176=)
15g.67181256C>GCA392955854SMAD3c.89C>G (p.Thr30Ser)
c.359C>G (p.Thr120Ser)
c.674C>G (p.Thr225Ser)
n.377C>G
c.542C>G (p.Thr181Ser)
n.282+6672C>G
c.527C>G (p.Thr176Ser)
15g.67181256C>TCA392955855SMAD3c.89C>T (p.Thr30Ile)
c.359C>T (p.Thr120Ile)
c.674C>T (p.Thr225Ile)
n.377C>T
c.542C>T (p.Thr181Ile)
n.282+6672C>T
c.527C>T (p.Thr176Ile)
 dbSNP
15g.67181257C>ACA490914414SMAD3c.90C>A (p.Thr30=)
c.360C>A (p.Thr120=)
c.675C>A (p.Thr225=)
n.378C>A
c.543C>A (p.Thr181=)
n.282+6673C>A
c.528C>A (p.Thr176=)
15g.67181257C=CA2184414464SMAD3c.90C= (p.Thr30=)
c.360C= (p.Thr120=)
c.675C= (p.Thr225=)
n.378C=
c.543C= (p.Thr181=)
n.282+6673C=
c.528C= (p.Thr176=)
15g.67181257C>GCA490914416SMAD3c.90C>G (p.Thr30=)
c.360C>G (p.Thr120=)
c.675C>G (p.Thr225=)
n.378C>G
c.543C>G (p.Thr181=)
n.282+6673C>G
c.528C>G (p.Thr176=)
 gnomAD v4 COSMIC COSMIC
15g.67181257C>TCA062562SMAD3c.90C>T (p.Thr30=)
c.360C>T (p.Thr120=)
c.675C>T (p.Thr225=)
n.378C>T
c.543C>T (p.Thr181=)
n.282+6673C>T
c.528C>T (p.Thr176=)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.67181258T>ACA392955856SMAD3c.91T>A (p.Tyr31Asn)
c.361T>A (p.Tyr121Asn)
c.676T>A (p.Tyr226Asn)
n.379T>A
c.544T>A (p.Tyr182Asn)
n.282+6674T>A
c.529T>A (p.Tyr177Asn)
15g.67181258T>CCA392955857SMAD3c.91T>C (p.Tyr31His)
c.361T>C (p.Tyr121His)
c.676T>C (p.Tyr226His)
n.379T>C
c.544T>C (p.Tyr182His)
n.282+6674T>C
c.529T>C (p.Tyr177His)
 ClinVar dbSNP
15g.67181258T>GCA392955858SMAD3c.91T>G (p.Tyr31Asp)
c.361T>G (p.Tyr121Asp)
c.676T>G (p.Tyr226Asp)
n.379T>G
c.544T>G (p.Tyr182Asp)
n.282+6674T>G
c.529T>G (p.Tyr177Asp)
15g.67181258T=CA2184414469SMAD3c.91T= (p.Tyr31=)
c.361T= (p.Tyr121=)
c.676T= (p.Tyr226=)
n.379T=
c.544T= (p.Tyr182=)
n.282+6674T=
c.529T= (p.Tyr177=)
15g.67181259A>CCA392955859SMAD3c.92A>C (p.Tyr31Ser)
c.362A>C (p.Tyr121Ser)
c.677A>C (p.Tyr226Ser)
n.380A>C
c.545A>C (p.Tyr182Ser)
n.282+6675A>C
c.530A>C (p.Tyr177Ser)
 ClinVar gnomAD v4
15g.67181259A>GCA392955860SMAD3c.92A>G (p.Tyr31Cys)
c.362A>G (p.Tyr121Cys)
c.677A>G (p.Tyr226Cys)
n.380A>G
c.545A>G (p.Tyr182Cys)
n.282+6675A>G
c.530A>G (p.Tyr177Cys)
15g.67181259A>TCA392955861SMAD3c.92A>T (p.Tyr31Phe)
c.362A>T (p.Tyr121Phe)
c.677A>T (p.Tyr226Phe)
n.380A>T
c.545A>T (p.Tyr182Phe)
n.282+6675A>T
c.530A>T (p.Tyr177Phe)
15g.67181259dupCA490914421SMAD3c.92dup (p.Tyr31Ter)
c.362dup (p.Tyr121Ter)
c.677dup (p.Tyr226Ter)
n.380dup
c.545dup (p.Tyr182Ter)
n.282+6675dup
c.530dup (p.Tyr177Ter)
 COSMIC COSMIC
15g.67181260C>ACA392955862SMAD3c.93C>A (p.Tyr31Ter)
c.363C>A (p.Tyr121Ter)
c.678C>A (p.Tyr226Ter)
n.381C>A
c.546C>A (p.Tyr182Ter)
n.282+6676C>A
c.531C>A (p.Tyr177Ter)
 COSMIC COSMIC
15g.67181260C=CA2184414473SMAD3c.93C= (p.Tyr31=)
c.363C= (p.Tyr121=)
c.678C= (p.Tyr226=)
n.381C=
c.546C= (p.Tyr182=)
n.282+6676C=
c.531C= (p.Tyr177=)
15g.67181260C>GCA392955863SMAD3c.93C>G (p.Tyr31Ter)
c.363C>G (p.Tyr121Ter)
c.678C>G (p.Tyr226Ter)
n.381C>G
c.546C>G (p.Tyr182Ter)
n.282+6676C>G
c.531C>G (p.Tyr177Ter)
15g.67181260C>TCA272385071SMAD3c.93C>T (p.Tyr31=)
c.363C>T (p.Tyr121=)
c.678C>T (p.Tyr226=)
n.381C>T
c.546C>T (p.Tyr182=)
n.282+6676C>T
c.531C>T (p.Tyr177=)
 ClinVar dbSNP gnomAD v4
15g.67181261delCA2695220924SMAD3c.94del (p.Cys32AlafsTer14)
c.364del (p.Cys122AlafsTer14)
c.679del (p.Cys227AlafsTer14)
n.382del
c.547del (p.Cys183AlafsTer14)
n.282+6677del
c.532del (p.Cys178AlafsTer14)
15g.67181261T>ACA392955866SMAD3c.94T>A (p.Cys32Ser)
c.364T>A (p.Cys122Ser)
c.679T>A (p.Cys227Ser)
n.382T>A
c.547T>A (p.Cys183Ser)
n.282+6677T>A
c.532T>A (p.Cys178Ser)
15g.67181261T>CCA392955865SMAD3c.94T>C (p.Cys32Arg)
c.364T>C (p.Cys122Arg)
c.679T>C (p.Cys227Arg)
n.382T>C
c.547T>C (p.Cys183Arg)
n.282+6677T>C
c.532T>C (p.Cys178Arg)
 dbSNP
15g.67181261T>GCA392955864SMAD3c.94T>G (p.Cys32Gly)
c.364T>G (p.Cys122Gly)
c.679T>G (p.Cys227Gly)
n.382T>G
c.547T>G (p.Cys183Gly)
n.282+6677T>G
c.532T>G (p.Cys178Gly)
 ClinVar dbSNP
15g.67181261T=CA2184414478SMAD3c.94T= (p.Cys32=)
c.364T= (p.Cys122=)
c.679T= (p.Cys227=)
n.382T=
c.547T= (p.Cys183=)
n.282+6677T=
c.532T= (p.Cys178=)
15g.67181262G>ACA392955867SMAD3c.95G>A (p.Cys32Tyr)
c.365G>A (p.Cys122Tyr)
c.680G>A (p.Cys227Tyr)
n.383G>A
c.548G>A (p.Cys183Tyr)
n.282+6678G>A
c.533G>A (p.Cys178Tyr)
15g.67181262G>CCA392955868SMAD3c.95G>C (p.Cys32Ser)
c.365G>C (p.Cys122Ser)
c.680G>C (p.Cys227Ser)
n.383G>C
c.548G>C (p.Cys183Ser)
n.282+6678G>C
c.533G>C (p.Cys178Ser)
15g.67181262G>TCA392955869SMAD3c.95G>T (p.Cys32Phe)
c.365G>T (p.Cys122Phe)
c.680G>T (p.Cys227Phe)
n.383G>T
c.548G>T (p.Cys183Phe)
n.282+6678G>T
c.533G>T (p.Cys178Phe)
15g.67181263C>ACA392955870SMAD3c.96C>A (p.Cys32Ter)
c.366C>A (p.Cys122Ter)
c.681C>A (p.Cys227Ter)
n.384C>A
c.549C>A (p.Cys183Ter)
n.282+6679C>A
c.534C>A (p.Cys178Ter)
15g.67181263C=CA2184414487SMAD3c.96C= (p.Cys32=)
c.366C= (p.Cys122=)
c.681C= (p.Cys227=)
n.384C=
c.549C= (p.Cys183=)
n.282+6679C=
c.534C= (p.Cys178=)
15g.67181263C>GCA392955871SMAD3c.96C>G (p.Cys32Trp)
c.366C>G (p.Cys122Trp)
c.681C>G (p.Cys227Trp)
n.384C>G
c.549C>G (p.Cys183Trp)
n.282+6679C>G
c.534C>G (p.Cys178Trp)
15g.67181263C>TCA062565SMAD3c.96C>T (p.Cys32=)
c.366C>T (p.Cys122=)
c.681C>T (p.Cys227=)
n.384C>T
c.549C>T (p.Cys183=)
n.282+6679C>T
c.534C>T (p.Cys178=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.67181264G>ACA320833SMAD3c.97G>A (p.Glu33Lys)
c.367G>A (p.Glu123Lys)
c.682G>A (p.Glu228Lys)
n.385G>A
c.550G>A (p.Glu184Lys)
n.282+6680G>A
c.535G>A (p.Glu179Lys)
 ClinVar dbSNP gnomAD v4 COSMIC
15g.67181264G>CCA392955878SMAD3c.97G>C (p.Glu33Gln)
c.367G>C (p.Glu123Gln)
c.682G>C (p.Glu228Gln)
n.385G>C
c.550G>C (p.Glu184Gln)
n.282+6680G>C
c.535G>C (p.Glu179Gln)
15g.67181264G=CA2184414535SMAD3c.97G= (p.Glu33=)
c.367G= (p.Glu123=)
c.682G= (p.Glu228=)
n.385G=
c.550G= (p.Glu184=)
n.282+6680G=
c.535G= (p.Glu179=)
15g.67181264G>TCA392955879SMAD3c.97G>T (p.Glu33Ter)
c.367G>T (p.Glu123Ter)
c.682G>T (p.Glu228Ter)
n.385G>T
c.550G>T (p.Glu184Ter)
n.282+6680G>T
c.535G>T (p.Glu179Ter)
 dbSNP gnomAD v4
15g.67181265A>CCA392955882SMAD3c.98A>C (p.Glu33Ala)
c.368A>C (p.Glu123Ala)
c.683A>C (p.Glu228Ala)
n.386A>C
c.551A>C (p.Glu184Ala)
n.282+6681A>C
c.536A>C (p.Glu179Ala)
15g.67181265A>GCA392955884SMAD3c.98A>G (p.Glu33Gly)
c.368A>G (p.Glu123Gly)
c.683A>G (p.Glu228Gly)
n.386A>G
c.551A>G (p.Glu184Gly)
n.282+6681A>G
c.536A>G (p.Glu179Gly)
15g.67181265A>TCA392955885SMAD3c.98A>T (p.Glu33Val)
c.368A>T (p.Glu123Val)
c.683A>T (p.Glu228Val)
n.386A>T
c.551A>T (p.Glu184Val)
n.282+6681A>T
c.536A>T (p.Glu179Val)
15g.67181266G>ACA490914444SMAD3c.99G>A (p.Glu33=)
c.369G>A (p.Glu123=)
c.684G>A (p.Glu228=)
n.387G>A
c.552G>A (p.Glu184=)
n.282+6682G>A
c.537G>A (p.Glu179=)
 gnomAD v4
15g.67181266G>CCA392955887SMAD3c.99G>C (p.Glu33Asp)
c.369G>C (p.Glu123Asp)
c.684G>C (p.Glu228Asp)
n.387G>C
c.552G>C (p.Glu184Asp)
n.282+6682G>C
c.537G>C (p.Glu179Asp)
15g.67181266G>TCA392955889SMAD3c.99G>T (p.Glu33Asp)
c.369G>T (p.Glu123Asp)
c.684G>T (p.Glu228Asp)
n.387G>T
c.552G>T (p.Glu184Asp)
n.282+6682G>T
c.537G>T (p.Glu179Asp)
15g.67181266_67181267delinsGCCA2184414538SMAD3c.99_100delinsGC (p.Glu33=)
c.369_370delinsGC (p.Glu123=)
c.684_685delinsGC (p.Glu228=)
n.387_388delinsGC
c.552_553delinsGC (p.Glu184=)
n.282+6682_282+6683delinsGC
c.537_538delinsGC (p.Glu179=)

Number of alleles fetched