Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.67184715G>ACA2184419081SMAD3c.287-12G>A (n.287-12G>A)
c.557-12G>A (n.557-12G>A)
c.872-12G>A (n.872-12G>A)
n.575-12G>A
c.740-12G>A (n.740-12G>A)
c.557-2650G>A (n.557-2650G>A)
n.283-8158G>A
c.725-12G>A (n.725-12G>A)
ClinVar dbSNP
15g.67184715G>CCA062788SMAD3c.287-12G>C (n.287-12G>C)
c.557-12G>C (n.557-12G>C)
c.872-12G>C (n.872-12G>C)
n.575-12G>C
c.740-12G>C (n.740-12G>C)
c.557-2650G>C (n.557-2650G>C)
n.283-8158G>C
c.725-12G>C (n.725-12G>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.67184715G=CA2184419083SMAD3c.287-12G= (n.287-12G=)
c.557-12G= (n.557-12G=)
c.872-12G= (n.872-12G=)
n.575-12G=
c.740-12G= (n.740-12G=)
c.557-2650G= (n.557-2650G=)
n.283-8158G=
c.725-12G= (n.725-12G=)
15g.67184717_67184719delinsATCCA2184419085SMAD3c.287-10_287-8delinsATC (n.287-10_287-8delinsATC)
c.557-10_557-8delinsATC (n.557-10_557-8delinsATC)
c.872-10_872-8delinsATC (n.872-10_872-8delinsATC)
n.575-10_575-8delinsATC
c.740-10_740-8delinsATC (n.740-10_740-8delinsATC)
c.557-2648_557-2646delinsATC (n.557-2648_557-2646delinsATC)
n.283-8156_283-8154delinsATC
c.725-10_725-8delinsATC (n.725-10_725-8delinsATC)
15g.67184718T>CCA618688026SMAD3c.287-9T>C (n.287-9T>C)
c.557-9T>C (n.557-9T>C)
c.872-9T>C (n.872-9T>C)
n.575-9T>C
c.740-9T>C (n.740-9T>C)
c.557-2647T>C (n.557-2647T>C)
n.283-8155T>C
c.725-9T>C (n.725-9T>C)
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.67184718T=CA2184419091SMAD3c.287-9T= (n.287-9T=)
c.557-9T= (n.557-9T=)
c.872-9T= (n.872-9T=)
n.575-9T=
c.740-9T= (n.740-9T=)
c.557-2647T= (n.557-2647T=)
n.283-8155T=
c.725-9T= (n.725-9T=)
15g.67184721_67184722delCA2184419089SMAD3c.287-6_287-5del (n.287-6_287-5del)
c.557-6_557-5del (n.557-6_557-5del)
c.872-6_872-5del (n.872-6_872-5del)
n.575-6_575-5del
c.740-6_740-5del (n.740-6_740-5del)
c.557-2644_557-2643del (n.557-2644_557-2643del)
n.283-8152_283-8151del
c.725-6_725-5del (n.725-6_725-5del)
ClinVar dbSNP gnomAD v4
15g.67184721C=CA2184419096SMAD3c.287-6C= (n.287-6C=)
c.557-6C= (n.557-6C=)
c.872-6C= (n.872-6C=)
n.575-6C=
c.740-6C= (n.740-6C=)
c.557-2644C= (n.557-2644C=)
n.283-8152C=
c.725-6C= (n.725-6C=)
15g.67184721C>GCA2184419098SMAD3c.287-6C>G (n.287-6C>G)
c.557-6C>G (n.557-6C>G)
c.872-6C>G (n.872-6C>G)
n.575-6C>G
c.740-6C>G (n.740-6C>G)
c.557-2644C>G (n.557-2644C>G)
n.283-8152C>G
c.725-6C>G (n.725-6C>G)
dbSNP
15g.67184721C>TCA913188679SMAD3c.287-6C>T (n.287-6C>T)
c.557-6C>T (n.557-6C>T)
c.872-6C>T (n.872-6C>T)
n.575-6C>T
c.740-6C>T (n.740-6C>T)
c.557-2644C>T (n.557-2644C>T)
n.283-8152C>T
c.725-6C>T (n.725-6C>T)
ClinVar dbSNP
15g.67184722T>CCA715084488SMAD3c.287-5T>C (n.287-5T>C)
c.557-5T>C (n.557-5T>C)
c.872-5T>C (n.872-5T>C)
n.575-5T>C
c.740-5T>C (n.740-5T>C)
c.557-2643T>C (n.557-2643T>C)
n.283-8151T>C
c.725-5T>C (n.725-5T>C)
dbSNP gnomAD v3 gnomAD v4
15g.67184722T=CA2184419101SMAD3c.287-5T= (n.287-5T=)
c.557-5T= (n.557-5T=)
c.872-5T= (n.872-5T=)
n.575-5T=
c.740-5T= (n.740-5T=)
c.557-2643T= (n.557-2643T=)
n.283-8151T=
c.725-5T= (n.725-5T=)
15g.67184723G>ACA062810SMAD3c.287-4G>A (n.287-4G>A)
c.557-4G>A (n.557-4G>A)
c.872-4G>A (n.872-4G>A)
n.575-4G>A
c.740-4G>A (n.740-4G>A)
c.557-2642G>A (n.557-2642G>A)
n.283-8150G>A
c.725-4G>A (n.725-4G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.67184723G=CA2184419104SMAD3c.287-4G= (n.287-4G=)
c.557-4G= (n.557-4G=)
c.872-4G= (n.872-4G=)
n.575-4G=
c.740-4G= (n.740-4G=)
c.557-2642G= (n.557-2642G=)
n.283-8150G=
c.725-4G= (n.725-4G=)
15g.67184725_67184736delCA2580089883SMAD3c.287-2_296del
c.557-2_566del
c.872-2_881del
n.575-2_584del
c.740-2_749del
c.557-2640_557-2629del (n.557-2640_557-2629del)
n.283-8148_283-8137del
c.725-2_734del
ClinVar
15g.67184725A>CCA392956616SMAD3c.287-2A>C (n.287-2A>C)
c.557-2A>C (n.557-2A>C)
c.872-2A>C (n.872-2A>C)
n.575-2A>C
c.740-2A>C (n.740-2A>C)
c.557-2640A>C (n.557-2640A>C)
n.283-8148A>C
c.725-2A>C (n.725-2A>C)
15g.67184725A>GCA392956617SMAD3c.287-2A>G (n.287-2A>G)
c.557-2A>G (n.557-2A>G)
c.872-2A>G (n.872-2A>G)
n.575-2A>G
c.740-2A>G (n.740-2A>G)
c.557-2640A>G (n.557-2640A>G)
n.283-8148A>G
c.725-2A>G (n.725-2A>G)
ClinVar
15g.67184725A>TCA392956620SMAD3c.287-2A>T (n.287-2A>T)
c.557-2A>T (n.557-2A>T)
c.872-2A>T (n.872-2A>T)
n.575-2A>T
c.740-2A>T (n.740-2A>T)
c.557-2640A>T (n.557-2640A>T)
n.283-8148A>T
c.725-2A>T (n.725-2A>T)
15g.67184726G>ACA392956627SMAD3c.287-1G>A (n.287-1G>A)
c.557-1G>A (n.557-1G>A)
c.872-1G>A (n.872-1G>A)
n.575-1G>A
c.740-1G>A (n.740-1G>A)
c.557-2639G>A (n.557-2639G>A)
n.283-8147G>A
c.725-1G>A (n.725-1G>A)
ClinVar dbSNP
15g.67184726G>CCA324696SMAD3c.287-1G>C (n.287-1G>C)
c.557-1G>C (n.557-1G>C)
c.872-1G>C (n.872-1G>C)
n.575-1G>C
c.740-1G>C (n.740-1G>C)
c.557-2639G>C (n.557-2639G>C)
n.283-8147G>C
c.725-1G>C (n.725-1G>C)
dbSNP
15g.67184726G=CA2184419107SMAD3c.287-1G= (n.287-1G=)
c.557-1G= (n.557-1G=)
c.872-1G= (n.872-1G=)
n.575-1G=
c.740-1G= (n.740-1G=)
c.557-2639G= (n.557-2639G=)
n.283-8147G=
c.725-1G= (n.725-1G=)
15g.67184726G>TCA392956625SMAD3c.287-1G>T (n.287-1G>T)
c.557-1G>T (n.557-1G>T)
c.872-1G>T (n.872-1G>T)
n.575-1G>T
c.740-1G>T (n.740-1G>T)
c.557-2639G>T (n.557-2639G>T)
n.283-8147G>T
c.725-1G>T (n.725-1G>T)
15g.67184727G>ACA392956630SMAD3c.287G>A (p.Gly96Glu)
c.557G>A (p.Gly186Glu)
c.872G>A (p.Gly291Glu)
n.575G>A
c.740G>A (p.Gly247Glu)
c.557-2638G>A (n.557-2638G>A)
n.283-8146G>A
c.725G>A (p.Gly242Glu)
15g.67184727G>CCA392956633SMAD3c.287G>C (p.Gly96Ala)
c.557G>C (p.Gly186Ala)
c.872G>C (p.Gly291Ala)
n.575G>C
c.740G>C (p.Gly247Ala)
c.557-2638G>C (n.557-2638G>C)
n.283-8146G>C
c.725G>C (p.Gly242Ala)
15g.67184727G=CA2184419113SMAD3c.287G= (p.Gly96=)
c.557G= (p.Gly186=)
c.872G= (p.Gly291=)
n.575G=
c.740G= (p.Gly247=)
c.557-2638G= (n.557-2638G=)
n.283-8146G=
c.725G= (p.Gly242=)
15g.67184727G>TCA392956636SMAD3c.287G>T (p.Gly96Val)
c.557G>T (p.Gly186Val)
c.872G>T (p.Gly291Val)
n.575G>T
c.740G>T (p.Gly247Val)
c.557-2638G>T (n.557-2638G>T)
n.283-8146G>T
c.725G>T (p.Gly242Val)
ClinVar dbSNP
15g.67184727_67184728delinsGACA2184419115SMAD3c.287_288delinsGA (p.Gly96=)
c.557_558delinsGA (p.Gly186=)
c.872_873delinsGA (p.Gly291=)
n.575_576delinsGA
c.740_741delinsGA (p.Gly247=)
c.557-2638_557-2637delinsGA (n.557-2638_557-2637delinsGA)
n.283-8146_283-8145delinsGA
c.725_726delinsGA (p.Gly242=)
15g.67184728A>CCA490916421SMAD3c.288A>C (p.Gly96=)
c.558A>C (p.Gly186=)
c.873A>C (p.Gly291=)
n.576A>C
c.741A>C (p.Gly247=)
c.557-2637A>C (n.557-2637A>C)
n.283-8145A>C
c.726A>C (p.Gly242=)
15g.67184728A>GCA490916422SMAD3c.288A>G (p.Gly96=)
c.558A>G (p.Gly186=)
c.873A>G (p.Gly291=)
n.576A>G
c.741A>G (p.Gly247=)
c.557-2637A>G (n.557-2637A>G)
n.283-8145A>G
c.726A>G (p.Gly242=)
15g.67184728A>TCA490916423SMAD3c.288A>T (p.Gly96=)
c.558A>T (p.Gly186=)
c.873A>T (p.Gly291=)
n.576A>T
c.741A>T (p.Gly247=)
c.557-2637A>T (n.557-2637A>T)
n.283-8145A>T
c.726A>T (p.Gly242=)
15g.67184729delCA915946045SMAD3c.289del (p.Arg97GlufsTer?)
c.559del (p.Arg187GlufsTer?)
c.874del (p.Arg292GlufsTer?)
n.577del
c.742del (p.Arg248GlufsTer?)
c.557-2636del (n.557-2636del)
n.283-8144del
c.727del (p.Arg243GlufsTer?)
ClinVar dbSNP
15g.67184729A>CCA490916426SMAD3c.289A>C (p.Arg97=)
c.559A>C (p.Arg187=)
c.874A>C (p.Arg292=)
n.577A>C
c.742A>C (p.Arg248=)
c.557-2636A>C (n.557-2636A>C)
n.283-8144A>C
c.727A>C (p.Arg243=)
15g.67184729A>GCA392956638SMAD3c.289A>G (p.Arg97Gly)
c.559A>G (p.Arg187Gly)
c.874A>G (p.Arg292Gly)
n.577A>G
c.742A>G (p.Arg248Gly)
c.557-2636A>G (n.557-2636A>G)
n.283-8144A>G
c.727A>G (p.Arg243Gly)
15g.67184729A>TCA392956640SMAD3c.289A>T (p.Arg97Ter)
c.559A>T (p.Arg187Ter)
c.874A>T (p.Arg292Ter)
n.577A>T
c.742A>T (p.Arg248Ter)
c.557-2636A>T (n.557-2636A>T)
n.283-8144A>T
c.727A>T (p.Arg243Ter)
15g.67184730G>ACA392956647SMAD3c.290G>A (p.Arg97Lys)
c.560G>A (p.Arg187Lys)
c.875G>A (p.Arg292Lys)
n.578G>A
c.743G>A (p.Arg248Lys)
c.557-2635G>A (n.557-2635G>A)
n.283-8143G>A
c.728G>A (p.Arg243Lys)
15g.67184730G>CCA392956642SMAD3c.290G>C (p.Arg97Thr)
c.560G>C (p.Arg187Thr)
c.875G>C (p.Arg292Thr)
n.578G>C
c.743G>C (p.Arg248Thr)
c.557-2635G>C (n.557-2635G>C)
n.283-8143G>C
c.728G>C (p.Arg243Thr)
15g.67184730G>TCA392956645SMAD3c.290G>T (p.Arg97Ile)
c.560G>T (p.Arg187Ile)
c.875G>T (p.Arg292Ile)
n.578G>T
c.743G>T (p.Arg248Ile)
c.557-2635G>T (n.557-2635G>T)
n.283-8143G>T
c.728G>T (p.Arg243Ile)
15g.67184731A>CCA392956649SMAD3c.291A>C (p.Arg97Ser)
c.561A>C (p.Arg187Ser)
c.876A>C (p.Arg292Ser)
n.579A>C
c.744A>C (p.Arg248Ser)
c.557-2634A>C (n.557-2634A>C)
n.283-8142A>C
c.729A>C (p.Arg243Ser)
15g.67184731A>GCA490916428SMAD3c.291A>G (p.Arg97=)
c.561A>G (p.Arg187=)
c.876A>G (p.Arg292=)
n.579A>G
c.744A>G (p.Arg248=)
c.557-2634A>G (n.557-2634A>G)
n.283-8142A>G
c.729A>G (p.Arg243=)
15g.67184731A>TCA392956651SMAD3c.291A>T (p.Arg97Ser)
c.561A>T (p.Arg187Ser)
c.876A>T (p.Arg292Ser)
n.579A>T
c.744A>T (p.Arg248Ser)
c.557-2634A>T (n.557-2634A>T)
n.283-8142A>T
c.729A>T (p.Arg243Ser)
15g.67184732G>ACA392956654SMAD3c.292G>A (p.Gly98Ser)
c.562G>A (p.Gly188Ser)
c.877G>A (p.Gly293Ser)
n.580G>A
c.745G>A (p.Gly249Ser)
c.557-2633G>A (n.557-2633G>A)
n.283-8141G>A
c.730G>A (p.Gly244Ser)
15g.67184732G>CCA392956657SMAD3c.292G>C (p.Gly98Arg)
c.562G>C (p.Gly188Arg)
c.877G>C (p.Gly293Arg)
n.580G>C
c.745G>C (p.Gly249Arg)
c.557-2633G>C (n.557-2633G>C)
n.283-8141G>C
c.730G>C (p.Gly244Arg)
15g.67184732G>TCA392956658SMAD3c.292G>T (p.Gly98Cys)
c.562G>T (p.Gly188Cys)
c.877G>T (p.Gly293Cys)
n.580G>T
c.745G>T (p.Gly249Cys)
c.557-2633G>T (n.557-2633G>T)
n.283-8141G>T
c.730G>T (p.Gly244Cys)
15g.67184733G>ACA062813SMAD3c.293G>A (p.Gly98Asp)
c.563G>A (p.Gly188Asp)
c.878G>A (p.Gly293Asp)
n.581G>A
c.746G>A (p.Gly249Asp)
c.557-2632G>A (n.557-2632G>A)
n.283-8140G>A
c.731G>A (p.Gly244Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.67184733G>CCA392956665SMAD3c.293G>C (p.Gly98Ala)
c.563G>C (p.Gly188Ala)
c.878G>C (p.Gly293Ala)
n.581G>C
c.746G>C (p.Gly249Ala)
c.557-2632G>C (n.557-2632G>C)
n.283-8140G>C
c.731G>C (p.Gly244Ala)
15g.67184733G=CA2184419124SMAD3c.293G= (p.Gly98=)
c.563G= (p.Gly188=)
c.878G= (p.Gly293=)
n.581G=
c.746G= (p.Gly249=)
c.557-2632G= (n.557-2632G=)
n.283-8140G=
c.731G= (p.Gly244=)
15g.67184733G>TCA392956663SMAD3c.293G>T (p.Gly98Val)
c.563G>T (p.Gly188Val)
c.878G>T (p.Gly293Val)
n.581G>T
c.746G>T (p.Gly249Val)
c.557-2632G>T (n.557-2632G>T)
n.283-8140G>T
c.731G>T (p.Gly244Val)
15g.67184734C>ACA490916430SMAD3c.294C>A (p.Gly98=)
c.564C>A (p.Gly188=)
c.879C>A (p.Gly293=)
n.582C>A
c.747C>A (p.Gly249=)
c.557-2631C>A (n.557-2631C>A)
n.283-8139C>A
c.732C>A (p.Gly244=)
15g.67184734C=CA2184419129SMAD3c.294C= (p.Gly98=)
c.564C= (p.Gly188=)
c.879C= (p.Gly293=)
n.582C=
c.747C= (p.Gly249=)
c.557-2631C= (n.557-2631C=)
n.283-8139C=
c.732C= (p.Gly244=)
15g.67184734C>GCA490916431SMAD3c.294C>G (p.Gly98=)
c.564C>G (p.Gly188=)
c.879C>G (p.Gly293=)
n.582C>G
c.747C>G (p.Gly249=)
c.557-2631C>G (n.557-2631C>G)
n.283-8139C>G
c.732C>G (p.Gly244=)
15g.67184734C>TCA062819SMAD3c.294C>T (p.Gly98=)
c.564C>T (p.Gly188=)
c.879C>T (p.Gly293=)
n.582C>T
c.747C>T (p.Gly249=)
c.557-2631C>T (n.557-2631C>T)
n.283-8139C>T
c.732C>T (p.Gly244=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.67184735G>ACA322183SMAD3c.295G>A (p.Val99Met)
c.565G>A (p.Val189Met)
c.880G>A (p.Val294Met)
n.583G>A
c.748G>A (p.Val250Met)
c.557-2630G>A (n.557-2630G>A)
n.283-8138G>A
c.733G>A (p.Val245Met)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
15g.67184735G>CCA392956669SMAD3c.295G>C (p.Val99Leu)
c.565G>C (p.Val189Leu)
c.880G>C (p.Val294Leu)
n.583G>C
c.748G>C (p.Val250Leu)
c.557-2630G>C (n.557-2630G>C)
n.283-8138G>C
c.733G>C (p.Val245Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.67184735G=CA2184419138SMAD3c.295G= (p.Val99=)
c.565G= (p.Val189=)
c.880G= (p.Val294=)
n.583G=
c.748G= (p.Val250=)
c.557-2630G= (n.557-2630G=)
n.283-8138G=
c.733G= (p.Val245=)
15g.67184735G>TCA392956672SMAD3c.295G>T (p.Val99Leu)
c.565G>T (p.Val189Leu)
c.880G>T (p.Val294Leu)
n.583G>T
c.748G>T (p.Val250Leu)
c.557-2630G>T (n.557-2630G>T)
n.283-8138G>T
c.733G>T (p.Val245Leu)
15g.67184736T>ACA392956675SMAD3c.296T>A (p.Val99Glu)
c.566T>A (p.Val189Glu)
c.881T>A (p.Val294Glu)
n.584T>A
c.749T>A (p.Val250Glu)
c.557-2629T>A (n.557-2629T>A)
n.283-8137T>A
c.734T>A (p.Val245Glu)
15g.67184736T>CCA392956678SMAD3c.296T>C (p.Val99Ala)
c.566T>C (p.Val189Ala)
c.881T>C (p.Val294Ala)
n.584T>C
c.749T>C (p.Val250Ala)
c.557-2629T>C (n.557-2629T>C)
n.283-8137T>C
c.734T>C (p.Val245Ala)
ClinVar
15g.67184736T>GCA392956681SMAD3c.296T>G (p.Val99Gly)
c.566T>G (p.Val189Gly)
c.881T>G (p.Val294Gly)
n.584T>G
c.749T>G (p.Val250Gly)
c.557-2629T>G (n.557-2629T>G)
n.283-8137T>G
c.734T>G (p.Val245Gly)
15g.67184736dupCA2580089919SMAD3c.296dup (p.Arg100AlafsTer16)
c.566dup (p.Arg190AlafsTer16)
c.881dup (p.Arg295AlafsTer16)
n.584dup
c.749dup (p.Arg251AlafsTer16)
c.296dup (p.Arg100AlafsTer?)
c.557-2629dup (n.557-2629dup)
n.283-8137dup
c.734dup (p.Arg246AlafsTer16)
ClinVar
15g.67184737G>ACA490916433SMAD3c.297G>A (p.Val99=)
c.567G>A (p.Val189=)
c.882G>A (p.Val294=)
n.585G>A
c.750G>A (p.Val250=)
c.557-2628G>A (n.557-2628G>A)
n.283-8136G>A
c.735G>A (p.Val245=)
ClinVar dbSNP
15g.67184737G>CCA490916434SMAD3c.297G>C (p.Val99=)
c.567G>C (p.Val189=)
c.882G>C (p.Val294=)
n.585G>C
c.750G>C (p.Val250=)
c.557-2628G>C (n.557-2628G>C)
n.283-8136G>C
c.735G>C (p.Val245=)
15g.67184737G=CA2184419146SMAD3c.297G= (p.Val99=)
c.567G= (p.Val189=)
c.882G= (p.Val294=)
n.585G=
c.750G= (p.Val250=)
c.557-2628G= (n.557-2628G=)
n.283-8136G=
c.735G= (p.Val245=)
15g.67184737G>TCA490916435SMAD3c.297G>T (p.Val99=)
c.567G>T (p.Val189=)
c.882G>T (p.Val294=)
n.585G>T
c.750G>T (p.Val250=)
c.557-2628G>T (n.557-2628G>T)
n.283-8136G>T
c.735G>T (p.Val245=)
dbSNP
15g.67184738C>ACA490916436SMAD3c.298C>A (p.Arg100=)
c.568C>A (p.Arg190=)
c.883C>A (p.Arg295=)
n.586C>A
c.751C>A (p.Arg251=)
c.557-2627C>A (n.557-2627C>A)
n.283-8135C>A
c.736C>A (p.Arg246=)
15g.67184738C=CA2184419152SMAD3c.298C= (p.Arg100=)
c.568C= (p.Arg190=)
c.883C= (p.Arg295=)
n.586C=
c.751C= (p.Arg251=)
c.557-2627C= (n.557-2627C=)
n.283-8135C=
c.736C= (p.Arg246=)
15g.67184738C>GCA392956683SMAD3c.298C>G (p.Arg100Gly)
c.568C>G (p.Arg190Gly)
c.883C>G (p.Arg295Gly)
n.586C>G
c.751C>G (p.Arg251Gly)
c.557-2627C>G (n.557-2627C>G)
n.283-8135C>G
c.736C>G (p.Arg246Gly)
dbSNP
15g.67184738C>TCA392956686SMAD3c.298C>T (p.Arg100Trp)
c.568C>T (p.Arg190Trp)
c.883C>T (p.Arg295Trp)
n.586C>T
c.751C>T (p.Arg251Trp)
c.557-2627C>T (n.557-2627C>T)
n.283-8135C>T
c.736C>T (p.Arg246Trp)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
15g.67184739G>ACA062823SMAD3c.299G>A (p.Arg100Gln)
c.569G>A (p.Arg190Gln)
c.884G>A (p.Arg295Gln)
n.587G>A
c.752G>A (p.Arg251Gln)
c.557-2626G>A (n.557-2626G>A)
n.283-8134G>A
c.737G>A (p.Arg246Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.67184739G>CCA392956688SMAD3c.299G>C (p.Arg100Pro)
c.569G>C (p.Arg190Pro)
c.884G>C (p.Arg295Pro)
n.587G>C
c.752G>C (p.Arg251Pro)
c.557-2626G>C (n.557-2626G>C)
n.283-8134G>C
c.737G>C (p.Arg246Pro)
15g.67184739G=CA2184419165SMAD3c.299G= (p.Arg100=)
c.569G= (p.Arg190=)
c.884G= (p.Arg295=)
n.587G=
c.752G= (p.Arg251=)
c.557-2626G= (n.557-2626G=)
n.283-8134G=
c.737G= (p.Arg246=)
15g.67184739G>TCA392956689SMAD3c.299G>T (p.Arg100Leu)
c.569G>T (p.Arg190Leu)
c.884G>T (p.Arg295Leu)
n.587G>T
c.752G>T (p.Arg251Leu)
c.557-2626G>T (n.557-2626G>T)
n.283-8134G>T
c.737G>T (p.Arg246Leu)
ClinVar dbSNP
15g.67184740G>ACA020156SMAD3c.300G>A (p.Arg100=)
c.570G>A (p.Arg190=)
c.885G>A (p.Arg295=)
n.588G>A
c.753G>A (p.Arg251=)
c.557-2625G>A (n.557-2625G>A)
n.283-8133G>A
c.738G>A (p.Arg246=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.67184740G>CCA490916437SMAD3c.300G>C (p.Arg100=)
c.570G>C (p.Arg190=)
c.885G>C (p.Arg295=)
n.588G>C
c.753G>C (p.Arg251=)
c.557-2625G>C (n.557-2625G>C)
n.283-8133G>C
c.738G>C (p.Arg246=)
15g.67184740G=CA2184419173SMAD3c.300G= (p.Arg100=)
c.570G= (p.Arg190=)
c.885G= (p.Arg295=)
n.588G=
c.753G= (p.Arg251=)
c.557-2625G= (n.557-2625G=)
n.283-8133G=
c.738G= (p.Arg246=)
15g.67184740G>TCA490916438SMAD3c.300G>T (p.Arg100=)
c.570G>T (p.Arg190=)
c.885G>T (p.Arg295=)
n.588G>T
c.753G>T (p.Arg251=)
c.557-2625G>T (n.557-2625G>T)
n.283-8133G>T
c.738G>T (p.Arg246=)
15g.67184741C>ACA392956696SMAD3c.301C>A (p.Leu101Ile)
c.571C>A (p.Leu191Ile)
c.886C>A (p.Leu296Ile)
n.589C>A
c.754C>A (p.Leu252Ile)
c.557-2624C>A (n.557-2624C>A)
n.283-8132C>A
c.739C>A (p.Leu247Ile)
15g.67184741C>GCA392956693SMAD3c.301C>G (p.Leu101Val)
c.571C>G (p.Leu191Val)
c.886C>G (p.Leu296Val)
n.589C>G
c.754C>G (p.Leu252Val)
c.557-2624C>G (n.557-2624C>G)
n.283-8132C>G
c.739C>G (p.Leu247Val)
15g.67184741C>TCA392956695SMAD3c.301C>T (p.Leu101Phe)
c.571C>T (p.Leu191Phe)
c.886C>T (p.Leu296Phe)
n.589C>T
c.754C>T (p.Leu252Phe)
c.557-2624C>T (n.557-2624C>T)
n.283-8132C>T
c.739C>T (p.Leu247Phe)
15g.67184742T>ACA392956699SMAD3c.302T>A (p.Leu101His)
c.572T>A (p.Leu191His)
c.887T>A (p.Leu296His)
n.590T>A
c.755T>A (p.Leu252His)
c.557-2623T>A (n.557-2623T>A)
n.283-8131T>A
c.740T>A (p.Leu247His)
COSMIC
15g.67184742T>CCA392956702SMAD3c.302T>C (p.Leu101Pro)
c.572T>C (p.Leu191Pro)
c.887T>C (p.Leu296Pro)
n.590T>C
c.755T>C (p.Leu252Pro)
c.557-2623T>C (n.557-2623T>C)
n.283-8131T>C
c.740T>C (p.Leu247Pro)
ClinVar dbSNP
15g.67184742T>GCA392956704SMAD3c.302T>G (p.Leu101Arg)
c.572T>G (p.Leu191Arg)
c.887T>G (p.Leu296Arg)
n.590T>G
c.755T>G (p.Leu252Arg)
c.557-2623T>G (n.557-2623T>G)
n.283-8131T>G
c.740T>G (p.Leu247Arg)
15g.67184743C>ACA490916441SMAD3c.303C>A (p.Leu101=)
c.573C>A (p.Leu191=)
c.888C>A (p.Leu296=)
n.591C>A
c.756C>A (p.Leu252=)
c.557-2622C>A (n.557-2622C>A)
n.283-8130C>A
c.741C>A (p.Leu247=)
15g.67184743C>GCA490916442SMAD3c.303C>G (p.Leu101=)
c.573C>G (p.Leu191=)
c.888C>G (p.Leu296=)
n.591C>G
c.756C>G (p.Leu252=)
c.557-2622C>G (n.557-2622C>G)
n.283-8130C>G
c.741C>G (p.Leu247=)
COSMIC COSMIC
15g.67184743C>TCA490916443SMAD3c.303C>T (p.Leu101=)
c.573C>T (p.Leu191=)
c.888C>T (p.Leu296=)
n.591C>T
c.756C>T (p.Leu252=)
c.557-2622C>T (n.557-2622C>T)
n.283-8130C>T
c.741C>T (p.Leu247=)
15g.67184744T>ACA392956711SMAD3c.304T>A (p.Tyr102Asn)
c.574T>A (p.Tyr192Asn)
c.889T>A (p.Tyr297Asn)
n.592T>A
c.757T>A (p.Tyr253Asn)
c.557-2621T>A (n.557-2621T>A)
n.283-8129T>A
c.742T>A (p.Tyr248Asn)
gnomAD v4
15g.67184744T>CCA392956714SMAD3c.304T>C (p.Tyr102His)
c.574T>C (p.Tyr192His)
c.889T>C (p.Tyr297His)
n.592T>C
c.757T>C (p.Tyr253His)
c.557-2621T>C (n.557-2621T>C)
n.283-8129T>C
c.742T>C (p.Tyr248His)
15g.67184744T>GCA392956716SMAD3c.304T>G (p.Tyr102Asp)
c.574T>G (p.Tyr192Asp)
c.889T>G (p.Tyr297Asp)
n.592T>G
c.757T>G (p.Tyr253Asp)
c.557-2621T>G (n.557-2621T>G)
n.283-8129T>G
c.742T>G (p.Tyr248Asp)
15g.67184745A=CA2184419177SMAD3c.305A= (p.Tyr102=)
c.575A= (p.Tyr192=)
c.890A= (p.Tyr297=)
n.593A=
c.758A= (p.Tyr253=)
c.557-2620A= (n.557-2620A=)
n.283-8128A=
c.743A= (p.Tyr248=)
15g.67184745A>CCA062830SMAD3c.305A>C (p.Tyr102Ser)
c.575A>C (p.Tyr192Ser)
c.890A>C (p.Tyr297Ser)
n.593A>C
c.758A>C (p.Tyr253Ser)
c.557-2620A>C (n.557-2620A>C)
n.283-8128A>C
c.743A>C (p.Tyr248Ser)
dbSNP ExAC gnomAD v2
15g.67184745A>GCA392956720SMAD3c.305A>G (p.Tyr102Cys)
c.575A>G (p.Tyr192Cys)
c.890A>G (p.Tyr297Cys)
n.593A>G
c.758A>G (p.Tyr253Cys)
c.557-2620A>G (n.557-2620A>G)
n.283-8128A>G
c.743A>G (p.Tyr248Cys)
15g.67184745A>TCA392956722SMAD3c.305A>T (p.Tyr102Phe)
c.575A>T (p.Tyr192Phe)
c.890A>T (p.Tyr297Phe)
n.593A>T
c.758A>T (p.Tyr253Phe)
c.557-2620A>T (n.557-2620A>T)
n.283-8128A>T
c.743A>T (p.Tyr248Phe)
15g.67184746C>ACA392956725SMAD3c.306C>A (p.Tyr102Ter)
c.576C>A (p.Tyr192Ter)
c.891C>A (p.Tyr297Ter)
n.594C>A
c.759C>A (p.Tyr253Ter)
c.557-2619C>A (n.557-2619C>A)
n.283-8127C>A
c.744C>A (p.Tyr248Ter)
15g.67184746C>GCA392956728SMAD3c.306C>G (p.Tyr102Ter)
c.576C>G (p.Tyr192Ter)
c.891C>G (p.Tyr297Ter)
n.594C>G
c.759C>G (p.Tyr253Ter)
c.557-2619C>G (n.557-2619C>G)
n.283-8127C>G
c.744C>G (p.Tyr248Ter)
ClinVar
15g.67184746C>TCA490916449SMAD3c.306C>T (p.Tyr102=)
c.576C>T (p.Tyr192=)
c.891C>T (p.Tyr297=)
n.594C>T
c.759C>T (p.Tyr253=)
c.557-2619C>T (n.557-2619C>T)
n.283-8127C>T
c.744C>T (p.Tyr248=)
dbSNP
15g.67184747T>ACA392956733SMAD3c.307T>A (p.Tyr103Asn)
c.577T>A (p.Tyr193Asn)
c.892T>A (p.Tyr298Asn)
n.595T>A
c.760T>A (p.Tyr254Asn)
c.557-2618T>A (n.557-2618T>A)
n.283-8126T>A
c.745T>A (p.Tyr249Asn)
15g.67184747T>CCA392956736SMAD3c.307T>C (p.Tyr103His)
c.577T>C (p.Tyr193His)
c.892T>C (p.Tyr298His)
n.595T>C
c.760T>C (p.Tyr254His)
c.557-2618T>C (n.557-2618T>C)
n.283-8126T>C
c.745T>C (p.Tyr249His)
15g.67184747T>GCA392956731SMAD3c.307T>G (p.Tyr103Asp)
c.577T>G (p.Tyr193Asp)
c.892T>G (p.Tyr298Asp)
n.595T>G
c.760T>G (p.Tyr254Asp)
c.557-2618T>G (n.557-2618T>G)
n.283-8126T>G
c.745T>G (p.Tyr249Asp)
15g.67184748A>CCA392956739SMAD3c.308A>C (p.Tyr103Ser)
c.578A>C (p.Tyr193Ser)
c.893A>C (p.Tyr298Ser)
n.596A>C
c.761A>C (p.Tyr254Ser)
c.557-2617A>C (n.557-2617A>C)
n.283-8125A>C
c.746A>C (p.Tyr249Ser)
15g.67184748A>GCA392956742SMAD3c.308A>G (p.Tyr103Cys)
c.578A>G (p.Tyr193Cys)
c.893A>G (p.Tyr298Cys)
n.596A>G
c.761A>G (p.Tyr254Cys)
c.557-2617A>G (n.557-2617A>G)
n.283-8125A>G
c.746A>G (p.Tyr249Cys)
15g.67184748A>TCA392956744SMAD3c.308A>T (p.Tyr103Phe)
c.578A>T (p.Tyr193Phe)
c.893A>T (p.Tyr298Phe)
n.596A>T
c.761A>T (p.Tyr254Phe)
c.557-2617A>T (n.557-2617A>T)
n.283-8125A>T
c.746A>T (p.Tyr249Phe)
15g.67184749C>ACA392956746SMAD3c.309C>A (p.Tyr103Ter)
c.579C>A (p.Tyr193Ter)
c.894C>A (p.Tyr298Ter)
n.597C>A
c.762C>A (p.Tyr254Ter)
c.557-2616C>A (n.557-2616C>A)
n.283-8124C>A
c.747C>A (p.Tyr249Ter)
15g.67184749C>GCA392956749SMAD3c.309C>G (p.Tyr103Ter)
c.579C>G (p.Tyr193Ter)
c.894C>G (p.Tyr298Ter)
n.597C>G
c.762C>G (p.Tyr254Ter)
c.557-2616C>G (n.557-2616C>G)
n.283-8124C>G
c.747C>G (p.Tyr249Ter)
15g.67184749C>TCA490916453SMAD3c.309C>T (p.Tyr103=)
c.579C>T (p.Tyr193=)
c.894C>T (p.Tyr298=)
n.597C>T
c.762C>T (p.Tyr254=)
c.557-2616C>T (n.557-2616C>T)
n.283-8124C>T
c.747C>T (p.Tyr249=)
gnomAD v4
15g.67184750A>CCA392956752SMAD3c.310A>C (p.Ile104Leu)
c.580A>C (p.Ile194Leu)
c.895A>C (p.Ile299Leu)
n.598A>C
c.763A>C (p.Ile255Leu)
c.557-2615A>C (n.557-2615A>C)
n.283-8123A>C
c.748A>C (p.Ile250Leu)
15g.67184750A>GCA392956755SMAD3c.310A>G (p.Ile104Val)
c.580A>G (p.Ile194Val)
c.895A>G (p.Ile299Val)
n.598A>G
c.763A>G (p.Ile255Val)
c.557-2615A>G (n.557-2615A>G)
n.283-8123A>G
c.748A>G (p.Ile250Val)
gnomAD v4
15g.67184750A>TCA392956757SMAD3c.310A>T (p.Ile104Phe)
c.580A>T (p.Ile194Phe)
c.895A>T (p.Ile299Phe)
n.598A>T
c.763A>T (p.Ile255Phe)
c.557-2615A>T (n.557-2615A>T)
n.283-8123A>T
c.748A>T (p.Ile250Phe)
15g.67184751T>ACA392956760SMAD3c.311T>A (p.Ile104Asn)
c.581T>A (p.Ile194Asn)
c.896T>A (p.Ile299Asn)
n.599T>A
c.764T>A (p.Ile255Asn)
c.557-2614T>A (n.557-2614T>A)
n.283-8122T>A
c.749T>A (p.Ile250Asn)
15g.67184751T>CCA392956763SMAD3c.311T>C (p.Ile104Thr)
c.581T>C (p.Ile194Thr)
c.896T>C (p.Ile299Thr)
n.599T>C
c.764T>C (p.Ile255Thr)
c.557-2614T>C (n.557-2614T>C)
n.283-8122T>C
c.749T>C (p.Ile250Thr)
15g.67184751T>GCA392956765SMAD3c.311T>G (p.Ile104Ser)
c.581T>G (p.Ile194Ser)
c.896T>G (p.Ile299Ser)
n.599T>G
c.764T>G (p.Ile255Ser)
c.557-2614T>G (n.557-2614T>G)
n.283-8122T>G
c.749T>G (p.Ile250Ser)
15g.67184752C>ACA490916454SMAD3c.312C>A (p.Ile104=)
c.582C>A (p.Ile194=)
c.897C>A (p.Ile299=)
n.600C>A
c.765C>A (p.Ile255=)
c.557-2613C>A (n.557-2613C>A)
n.283-8121C>A
c.750C>A (p.Ile250=)
15g.67184752C=CA2184419186SMAD3c.312C= (p.Ile104=)
c.582C= (p.Ile194=)
c.897C= (p.Ile299=)
n.600C=
c.765C= (p.Ile255=)
c.557-2613C= (n.557-2613C=)
n.283-8121C=
c.750C= (p.Ile250=)
15g.67184752C>GCA392956768SMAD3c.312C>G (p.Ile104Met)
c.582C>G (p.Ile194Met)
c.897C>G (p.Ile299Met)
n.600C>G
c.765C>G (p.Ile255Met)
c.557-2613C>G (n.557-2613C>G)
n.283-8121C>G
c.750C>G (p.Ile250Met)
ClinVar
15g.67184752C>TCA062835SMAD3c.312C>T (p.Ile104=)
c.582C>T (p.Ile194=)
c.897C>T (p.Ile299=)
n.600C>T
c.765C>T (p.Ile255=)
c.557-2613C>T (n.557-2613C>T)
n.283-8121C>T
c.750C>T (p.Ile250=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
15g.67184753G>ACA392956776SMAD3c.313G>A (p.Gly105Arg)
c.583G>A (p.Gly195Arg)
c.898G>A (p.Gly300Arg)
n.601G>A
c.766G>A (p.Gly256Arg)
c.557-2612G>A (n.557-2612G>A)
n.283-8120G>A
c.751G>A (p.Gly251Arg)
dbSNP gnomAD v4
15g.67184753G>CCA392956773SMAD3c.313G>C (p.Gly105Arg)
c.583G>C (p.Gly195Arg)
c.898G>C (p.Gly300Arg)
n.601G>C
c.766G>C (p.Gly256Arg)
c.557-2612G>C (n.557-2612G>C)
n.283-8120G>C
c.751G>C (p.Gly251Arg)
15g.67184753G=CA2184419191SMAD3c.313G= (p.Gly105=)
c.583G= (p.Gly195=)
c.898G= (p.Gly300=)
n.601G=
c.766G= (p.Gly256=)
c.557-2612G= (n.557-2612G=)
n.283-8120G=
c.751G= (p.Gly251=)
15g.67184753G>TCA392956771SMAD3c.313G>T (p.Gly105Ter)
c.583G>T (p.Gly195Ter)
c.898G>T (p.Gly300Ter)
n.601G>T
c.766G>T (p.Gly256Ter)
c.557-2612G>T (n.557-2612G>T)
n.283-8120G>T
c.751G>T (p.Gly251Ter)
15g.67184755_67184757dupCA2825002298SMAD3c.315_317dup (p.Gly106_Glu107insGly)
c.585_587dup (p.Gly196_Glu197insGly)
c.900_902dup (p.Gly301_Glu302insGly)
n.603_605dup
c.768_770dup (p.Gly257_Glu258insGly)
c.557-2610_557-2608dup (n.557-2610_557-2608dup)
n.283-8118_283-8116dup
c.753_755dup (p.Gly252_Glu253insGly)
ClinVar
15g.67184754G>ACA392956777SMAD3c.314G>A (p.Gly105Glu)
c.584G>A (p.Gly195Glu)
c.899G>A (p.Gly300Glu)
n.602G>A
c.767G>A (p.Gly256Glu)
c.557-2611G>A (n.557-2611G>A)
n.283-8119G>A
c.752G>A (p.Gly251Glu)
dbSNP
15g.67184754G>CCA392956778SMAD3c.314G>C (p.Gly105Ala)
c.584G>C (p.Gly195Ala)
c.899G>C (p.Gly300Ala)
n.602G>C
c.767G>C (p.Gly256Ala)
c.557-2611G>C (n.557-2611G>C)
n.283-8119G>C
c.752G>C (p.Gly251Ala)
15g.67184754G>TCA392956780SMAD3c.314G>T (p.Gly105Val)
c.584G>T (p.Gly195Val)
c.899G>T (p.Gly300Val)
n.602G>T
c.767G>T (p.Gly256Val)
c.557-2611G>T (n.557-2611G>T)
n.283-8119G>T
c.752G>T (p.Gly251Val)
15g.67184755A>CCA490916455SMAD3c.315A>C (p.Gly105=)
c.585A>C (p.Gly195=)
c.900A>C (p.Gly300=)
n.603A>C
c.768A>C (p.Gly256=)
c.557-2610A>C (n.557-2610A>C)
n.283-8118A>C
c.753A>C (p.Gly251=)
15g.67184755A>GCA490916456SMAD3c.315A>G (p.Gly105=)
c.585A>G (p.Gly195=)
c.900A>G (p.Gly300=)
n.603A>G
c.768A>G (p.Gly256=)
c.557-2610A>G (n.557-2610A>G)
n.283-8118A>G
c.753A>G (p.Gly251=)
15g.67184755A>TCA490916457SMAD3c.315A>T (p.Gly105=)
c.585A>T (p.Gly195=)
c.900A>T (p.Gly300=)
n.603A>T
c.768A>T (p.Gly256=)
c.557-2610A>T (n.557-2610A>T)
n.283-8118A>T
c.753A>T (p.Gly251=)
15g.67184755_67184756delinsAGCA2184419193SMAD3c.315_316delinsAG (p.Gly105=)
c.585_586delinsAG (p.Gly195=)
c.900_901delinsAG (p.Gly300=)
n.603_604delinsAG
c.768_769delinsAG (p.Gly256=)
c.557-2610_557-2609delinsAG (n.557-2610_557-2609delinsAG)
n.283-8118_283-8117delinsAG
c.753_754delinsAG (p.Gly251=)
15g.67184756G>ACA392956782SMAD3c.316G>A (p.Gly106Arg)
c.586G>A (p.Gly196Arg)
c.901G>A (p.Gly301Arg)
n.604G>A
c.769G>A (p.Gly257Arg)
c.557-2609G>A (n.557-2609G>A)
n.283-8117G>A
c.754G>A (p.Gly252Arg)
dbSNP
15g.67184756G>CCA392956783SMAD3c.316G>C (p.Gly106Arg)
c.586G>C (p.Gly196Arg)
c.901G>C (p.Gly301Arg)
n.604G>C
c.769G>C (p.Gly257Arg)
c.557-2609G>C (n.557-2609G>C)
n.283-8117G>C
c.754G>C (p.Gly252Arg)
15g.67184756G>TCA392956786SMAD3c.316G>T (p.Gly106Trp)
c.586G>T (p.Gly196Trp)
c.901G>T (p.Gly301Trp)
n.604G>T
c.769G>T (p.Gly257Trp)
c.557-2609G>T (n.557-2609G>T)
n.283-8117G>T
c.754G>T (p.Gly252Trp)
dbSNP
15g.67184758_67184759dupCA16614551SMAD3c.318_319dup (p.Glu107GlyfsTer?)
c.588_589dup (p.Glu197GlyfsTer?)
c.903_904dup (p.Glu302GlyfsTer?)
n.606_607dup
c.771_772dup (p.Glu258GlyfsTer?)
c.557-2607_557-2606dup (n.557-2607_557-2606dup)
n.283-8115_283-8114dup
c.756_757dup (p.Glu253GlyfsTer?)
ClinVar dbSNP
15g.67184759delCA915946046SMAD3c.319del (p.Glu107ArgfsTer?)
c.589del (p.Glu197ArgfsTer?)
c.904del (p.Glu302ArgfsTer?)
n.607del
c.772del (p.Glu258ArgfsTer?)
c.557-2606del (n.557-2606del)
n.283-8114del
c.757del (p.Glu253ArgfsTer?)
ClinVar dbSNP
15g.67184757G>ACA392956788SMAD3c.317G>A (p.Gly106Glu)
c.587G>A (p.Gly196Glu)
c.902G>A (p.Gly301Glu)
n.605G>A
c.770G>A (p.Gly257Glu)
c.557-2608G>A (n.557-2608G>A)
n.283-8116G>A
c.755G>A (p.Gly252Glu)
15g.67184757G>CCA392956790SMAD3c.317G>C (p.Gly106Ala)
c.587G>C (p.Gly196Ala)
c.902G>C (p.Gly301Ala)
n.605G>C
c.770G>C (p.Gly257Ala)
c.557-2608G>C (n.557-2608G>C)
n.283-8116G>C
c.755G>C (p.Gly252Ala)
15g.67184757G=CA2184419203SMAD3c.317G= (p.Gly106=)
c.587G= (p.Gly196=)
c.902G= (p.Gly301=)
n.605G=
c.770G= (p.Gly257=)
c.557-2608G= (n.557-2608G=)
n.283-8116G=
c.755G= (p.Gly252=)
15g.67184757G>TCA392956793SMAD3c.317G>T (p.Gly106Val)
c.587G>T (p.Gly196Val)
c.902G>T (p.Gly301Val)
n.605G>T
c.770G>T (p.Gly257Val)
c.557-2608G>T (n.557-2608G>T)
n.283-8116G>T
c.755G>T (p.Gly252Val)
dbSNP gnomAD v2 gnomAD v4
15g.67184758G>ACA490916460SMAD3c.318G>A (p.Gly106=)
c.588G>A (p.Gly196=)
c.903G>A (p.Gly301=)
n.606G>A
c.771G>A (p.Gly257=)
c.557-2607G>A (n.557-2607G>A)
n.283-8115G>A
c.756G>A (p.Gly252=)
gnomAD v4
15g.67184758G>CCA490916461SMAD3c.318G>C (p.Gly106=)
c.588G>C (p.Gly196=)
c.903G>C (p.Gly301=)
n.606G>C
c.771G>C (p.Gly257=)
c.557-2607G>C (n.557-2607G>C)
n.283-8115G>C
c.756G>C (p.Gly252=)
15g.67184758G>TCA490916462SMAD3c.318G>T (p.Gly106=)
c.588G>T (p.Gly196=)
c.903G>T (p.Gly301=)
n.606G>T
c.771G>T (p.Gly257=)
c.557-2607G>T (n.557-2607G>T)
n.283-8115G>T
c.756G>T (p.Gly252=)
15g.67184759G>ACA392956796SMAD3c.319G>A (p.Glu107Lys)
c.589G>A (p.Glu197Lys)
c.904G>A (p.Glu302Lys)
n.607G>A
c.772G>A (p.Glu258Lys)
c.557-2606G>A (n.557-2606G>A)
n.283-8114G>A
c.757G>A (p.Glu253Lys)
15g.67184759G>CCA392956798SMAD3c.319G>C (p.Glu107Gln)
c.589G>C (p.Glu197Gln)
c.904G>C (p.Glu302Gln)
n.607G>C
c.772G>C (p.Glu258Gln)
c.557-2606G>C (n.557-2606G>C)
n.283-8114G>C
c.757G>C (p.Glu253Gln)
15g.67184759G>TCA392956799SMAD3c.319G>T (p.Glu107Ter)
c.589G>T (p.Glu197Ter)
c.904G>T (p.Glu302Ter)
n.607G>T
c.772G>T (p.Glu258Ter)
c.557-2606G>T (n.557-2606G>T)
n.283-8114G>T
c.757G>T (p.Glu253Ter)
15g.67184760A=CA2184419207SMAD3c.320A= (p.Glu107=)
c.590A= (p.Glu197=)
c.905A= (p.Glu302=)
n.608A=
c.773A= (p.Glu258=)
c.557-2605A= (n.557-2605A=)
n.283-8113A=
c.758A= (p.Glu253=)
15g.67184760A>CCA392956807SMAD3c.320A>C (p.Glu107Ala)
c.590A>C (p.Glu197Ala)
c.905A>C (p.Glu302Ala)
n.608A>C
c.773A>C (p.Glu258Ala)
c.557-2605A>C (n.557-2605A>C)
n.283-8113A>C
c.758A>C (p.Glu253Ala)
15g.67184760A>GCA392956805SMAD3c.320A>G (p.Glu107Gly)
c.590A>G (p.Glu197Gly)
c.905A>G (p.Glu302Gly)
n.608A>G
c.773A>G (p.Glu258Gly)
c.557-2605A>G (n.557-2605A>G)
n.283-8113A>G
c.758A>G (p.Glu253Gly)
dbSNP
15g.67184760A>TCA392956803SMAD3c.320A>T (p.Glu107Val)
c.590A>T (p.Glu197Val)
c.905A>T (p.Glu302Val)
n.608A>T
c.773A>T (p.Glu258Val)
c.557-2605A>T (n.557-2605A>T)
n.283-8113A>T
c.758A>T (p.Glu253Val)
dbSNP gnomAD v3 gnomAD v4
15g.67184761G>ACA490916466SMAD3c.321G>A (p.Glu107=)
c.591G>A (p.Glu197=)
c.906G>A (p.Glu302=)
n.609G>A
c.774G>A (p.Glu258=)
c.557-2604G>A (n.557-2604G>A)
n.283-8112G>A
c.759G>A (p.Glu253=)
dbSNP
15g.67184761G>CCA392956810SMAD3c.321G>C (p.Glu107Asp)
c.591G>C (p.Glu197Asp)
c.906G>C (p.Glu302Asp)
n.609G>C
c.774G>C (p.Glu258Asp)
c.557-2604G>C (n.557-2604G>C)
n.283-8112G>C
c.759G>C (p.Glu253Asp)
15g.67184761G>TCA392956813SMAD3c.321G>T (p.Glu107Asp)
c.591G>T (p.Glu197Asp)
c.906G>T (p.Glu302Asp)
n.609G>T
c.774G>T (p.Glu258Asp)
c.557-2604G>T (n.557-2604G>T)
n.283-8112G>T
c.759G>T (p.Glu253Asp)
15g.67184762G>ACA16614720SMAD3c.322G>A (p.Val108Ile)
c.592G>A (p.Val198Ile)
c.907G>A (p.Val303Ile)
n.610G>A
c.775G>A (p.Val259Ile)
c.557-2603G>A (n.557-2603G>A)
n.283-8111G>A
c.760G>A (p.Val254Ile)
ClinVar dbSNP
15g.67184762G>CCA392956819SMAD3c.322G>C (p.Val108Leu)
c.592G>C (p.Val198Leu)
c.907G>C (p.Val303Leu)
n.610G>C
c.775G>C (p.Val259Leu)
c.557-2603G>C (n.557-2603G>C)
n.283-8111G>C
c.760G>C (p.Val254Leu)
15g.67184762G=CA2184419210SMAD3c.322G= (p.Val108=)
c.592G= (p.Val198=)
c.907G= (p.Val303=)
n.610G=
c.775G= (p.Val259=)
c.557-2603G= (n.557-2603G=)
n.283-8111G=
c.760G= (p.Val254=)
15g.67184762G>TCA392956816SMAD3c.322G>T (p.Val108Phe)
c.592G>T (p.Val198Phe)
c.907G>T (p.Val303Phe)
n.610G>T
c.775G>T (p.Val259Phe)
c.557-2603G>T (n.557-2603G>T)
n.283-8111G>T
c.760G>T (p.Val254Phe)
15g.67184763T>ACA392956822SMAD3c.323T>A (p.Val108Asp)
c.593T>A (p.Val198Asp)
c.908T>A (p.Val303Asp)
n.611T>A
c.776T>A (p.Val259Asp)
c.557-2602T>A (n.557-2602T>A)
n.283-8110T>A
c.761T>A (p.Val254Asp)
ClinVar dbSNP
15g.67184763T>CCA392956823SMAD3c.323T>C (p.Val108Ala)
c.593T>C (p.Val198Ala)
c.908T>C (p.Val303Ala)
n.611T>C
c.776T>C (p.Val259Ala)
c.557-2602T>C (n.557-2602T>C)
n.283-8110T>C
c.761T>C (p.Val254Ala)
15g.67184763T>GCA392956826SMAD3c.323T>G (p.Val108Gly)
c.593T>G (p.Val198Gly)
c.908T>G (p.Val303Gly)
n.611T>G
c.776T>G (p.Val259Gly)
c.557-2602T>G (n.557-2602T>G)
n.283-8110T>G
c.761T>G (p.Val254Gly)
dbSNP
15g.67184763T=CA2184419214SMAD3c.323T= (p.Val108=)
c.593T= (p.Val198=)
c.908T= (p.Val303=)
n.611T=
c.776T= (p.Val259=)
c.557-2602T= (n.557-2602T=)
n.283-8110T=
c.761T= (p.Val254=)
15g.67184765_67184767delCA2731022564SMAD3c.325_327del (p.Phe109del)
c.595_597del (p.Phe199del)
c.910_912del (p.Phe304del)
n.613_615del
c.778_780del (p.Phe260del)
c.557-2600_557-2598del (n.557-2600_557-2598del)
n.283-8108_283-8106del
c.763_765del (p.Phe255del)
dbSNP
15g.67184764C>ACA490916467SMAD3c.324C>A (p.Val108=)
c.594C>A (p.Val198=)
c.909C>A (p.Val303=)
n.612C>A
c.777C>A (p.Val259=)
c.557-2601C>A (n.557-2601C>A)
n.283-8109C>A
c.762C>A (p.Val254=)
15g.67184764C>GCA490916468SMAD3c.324C>G (p.Val108=)
c.594C>G (p.Val198=)
c.909C>G (p.Val303=)
n.612C>G
c.777C>G (p.Val259=)
c.557-2601C>G (n.557-2601C>G)
n.283-8109C>G
c.762C>G (p.Val254=)
15g.67184764C>TCA490916470SMAD3c.324C>T (p.Val108=)
c.594C>T (p.Val198=)
c.909C>T (p.Val303=)
n.612C>T
c.777C>T (p.Val259=)
c.557-2601C>T (n.557-2601C>T)
n.283-8109C>T
c.762C>T (p.Val254=)
15g.67184765_67184769delCA2731022601SMAD3c.325_329del (p.Phe109ArgfsTer5)
c.595_599del (p.Phe199ArgfsTer5)
c.910_914del (p.Phe304ArgfsTer5)
n.613_617del
c.778_782del (p.Phe260ArgfsTer5)
c.325_329del (p.Phe109ArgfsTer?)
c.557-2600_557-2596del (n.557-2600_557-2596del)
n.283-8108_283-8104del
c.763_767del (p.Phe255ArgfsTer5)
dbSNP
15g.67184765T>ACA392956829SMAD3c.325T>A (p.Phe109Ile)
c.595T>A (p.Phe199Ile)
c.910T>A (p.Phe304Ile)
n.613T>A
c.778T>A (p.Phe260Ile)
c.557-2600T>A (n.557-2600T>A)
n.283-8108T>A
c.763T>A (p.Phe255Ile)
15g.67184765T>CCA392956831SMAD3c.325T>C (p.Phe109Leu)
c.595T>C (p.Phe199Leu)
c.910T>C (p.Phe304Leu)
n.613T>C
c.778T>C (p.Phe260Leu)
c.557-2600T>C (n.557-2600T>C)
n.283-8108T>C
c.763T>C (p.Phe255Leu)
15g.67184765T>GCA392956833SMAD3c.325T>G (p.Phe109Val)
c.595T>G (p.Phe199Val)
c.910T>G (p.Phe304Val)
n.613T>G
c.778T>G (p.Phe260Val)
c.557-2600T>G (n.557-2600T>G)
n.283-8108T>G
c.763T>G (p.Phe255Val)
15g.67184766T>ACA392956837SMAD3c.326T>A (p.Phe109Tyr)
c.596T>A (p.Phe199Tyr)
c.911T>A (p.Phe304Tyr)
n.614T>A
c.779T>A (p.Phe260Tyr)
c.557-2599T>A (n.557-2599T>A)
n.283-8107T>A
c.764T>A (p.Phe255Tyr)
15g.67184766T>CCA392956839SMAD3c.326T>C (p.Phe109Ser)
c.596T>C (p.Phe199Ser)
c.911T>C (p.Phe304Ser)
n.614T>C
c.779T>C (p.Phe260Ser)
c.557-2599T>C (n.557-2599T>C)
n.283-8107T>C
c.764T>C (p.Phe255Ser)
15g.67184766T>GCA392956841SMAD3c.326T>G (p.Phe109Cys)
c.596T>G (p.Phe199Cys)
c.911T>G (p.Phe304Cys)
n.614T>G
c.779T>G (p.Phe260Cys)
c.557-2599T>G (n.557-2599T>G)
n.283-8107T>G
c.764T>G (p.Phe255Cys)
15g.67184767C>ACA392956844SMAD3c.327C>A (p.Phe109Leu)
c.597C>A (p.Phe199Leu)
c.912C>A (p.Phe304Leu)
n.615C>A
c.780C>A (p.Phe260Leu)
c.557-2598C>A (n.557-2598C>A)
n.283-8106C>A
c.765C>A (p.Phe255Leu)
15g.67184767C=CA2184419220SMAD3c.327C= (p.Phe109=)
c.597C= (p.Phe199=)
c.912C= (p.Phe304=)
n.615C=
c.780C= (p.Phe260=)
c.557-2598C= (n.557-2598C=)
n.283-8106C=
c.765C= (p.Phe255=)
15g.67184767C>GCA392956847SMAD3c.327C>G (p.Phe109Leu)
c.597C>G (p.Phe199Leu)
c.912C>G (p.Phe304Leu)
n.615C>G
c.780C>G (p.Phe260Leu)
c.557-2598C>G (n.557-2598C>G)
n.283-8106C>G
c.765C>G (p.Phe255Leu)
15g.67184767C>TCA062839SMAD3c.327C>T (p.Phe109=)
c.597C>T (p.Phe199=)
c.912C>T (p.Phe304=)
n.615C>T
c.780C>T (p.Phe260=)
c.557-2598C>T (n.557-2598C>T)
n.283-8106C>T
c.765C>T (p.Phe255=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.67184768G>ACA392956855SMAD3c.328G>A (p.Ala110Thr)
c.598G>A (p.Ala200Thr)
c.913G>A (p.Ala305Thr)
n.616G>A
c.781G>A (p.Ala261Thr)
c.557-2597G>A (n.557-2597G>A)
n.283-8105G>A
c.766G>A (p.Ala256Thr)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
15g.67184768G>CCA392956850SMAD3c.328G>C (p.Ala110Pro)
c.598G>C (p.Ala200Pro)
c.913G>C (p.Ala305Pro)
n.616G>C
c.781G>C (p.Ala261Pro)
c.557-2597G>C (n.557-2597G>C)
n.283-8105G>C
c.766G>C (p.Ala256Pro)
15g.67184768G=CA2184419226SMAD3c.328G= (p.Ala110=)
c.598G= (p.Ala200=)
c.913G= (p.Ala305=)
n.616G=
c.781G= (p.Ala261=)
c.557-2597G= (n.557-2597G=)
n.283-8105G=
c.766G= (p.Ala256=)
15g.67184768G>TCA392956852SMAD3c.328G>T (p.Ala110Ser)
c.598G>T (p.Ala200Ser)
c.913G>T (p.Ala305Ser)
n.616G>T
c.781G>T (p.Ala261Ser)
c.557-2597G>T (n.557-2597G>T)
n.283-8105G>T
c.766G>T (p.Ala256Ser)
15g.67184769C>ACA392956857SMAD3c.329C>A (p.Ala110Glu)
c.599C>A (p.Ala200Glu)
c.914C>A (p.Ala305Glu)
n.617C>A
c.782C>A (p.Ala261Glu)
c.557-2596C>A (n.557-2596C>A)
n.283-8104C>A
c.767C>A (p.Ala256Glu)
15g.67184769C>GCA392956858SMAD3c.329C>G (p.Ala110Gly)
c.599C>G (p.Ala200Gly)
c.914C>G (p.Ala305Gly)
n.617C>G
c.782C>G (p.Ala261Gly)
c.557-2596C>G (n.557-2596C>G)
n.283-8104C>G
c.767C>G (p.Ala256Gly)
15g.67184769C>TCA392956859SMAD3c.329C>T (p.Ala110Val)
c.599C>T (p.Ala200Val)
c.914C>T (p.Ala305Val)
n.617C>T
c.782C>T (p.Ala261Val)
c.557-2596C>T (n.557-2596C>T)
n.283-8104C>T
c.767C>T (p.Ala256Val)
dbSNP
15g.67184770A>CCA490916483SMAD3c.330A>C (p.Ala110=)
c.600A>C (p.Ala200=)
c.915A>C (p.Ala305=)
n.618A>C
c.783A>C (p.Ala261=)
c.557-2595A>C (n.557-2595A>C)
n.283-8103A>C
c.768A>C (p.Ala256=)
15g.67184770A>GCA490916484SMAD3c.330A>G (p.Ala110=)
c.600A>G (p.Ala200=)
c.915A>G (p.Ala305=)
n.618A>G
c.783A>G (p.Ala261=)
c.557-2595A>G (n.557-2595A>G)
n.283-8103A>G
c.768A>G (p.Ala256=)
15g.67184770A>TCA490916485SMAD3c.330A>T (p.Ala110=)
c.600A>T (p.Ala200=)
c.915A>T (p.Ala305=)
n.618A>T
c.783A>T (p.Ala261=)
c.557-2595A>T (n.557-2595A>T)
n.283-8103A>T
c.768A>T (p.Ala256=)
15g.67184770_67184771insCTCA2731022619SMAD3c.330_331insCT (p.Glu111LeufsTer?)
c.600_601insCT (p.Glu201LeufsTer?)
c.915_916insCT (p.Glu306LeufsTer?)
n.618_619insCT
c.783_784insCT (p.Glu262LeufsTer?)
c.557-2595_557-2594insCT (n.557-2595_557-2594insCT)
n.283-8103_283-8102insCT
c.768_769insCT (p.Glu257LeufsTer?)
dbSNP
15g.67184771G>ACA392956862SMAD3c.331G>A (p.Glu111Lys)
c.601G>A (p.Glu201Lys)
c.916G>A (p.Glu306Lys)
n.619G>A
c.784G>A (p.Glu262Lys)
c.557-2594G>A (n.557-2594G>A)
n.283-8102G>A
c.769G>A (p.Glu257Lys)
dbSNP
15g.67184771G>CCA392956865SMAD3c.331G>C (p.Glu111Gln)
c.601G>C (p.Glu201Gln)
c.916G>C (p.Glu306Gln)
n.619G>C
c.784G>C (p.Glu262Gln)
c.557-2594G>C (n.557-2594G>C)
n.283-8102G>C
c.769G>C (p.Glu257Gln)
15g.67184771G>TCA392956868SMAD3c.331G>T (p.Glu111Ter)
c.601G>T (p.Glu201Ter)
c.916G>T (p.Glu306Ter)
n.619G>T
c.784G>T (p.Glu262Ter)
c.557-2594G>T (n.557-2594G>T)
n.283-8102G>T
c.769G>T (p.Glu257Ter)
ClinVar COSMIC COSMIC
15g.67184772A>CCA392956869SMAD3c.332A>C (p.Glu111Ala)
c.602A>C (p.Glu201Ala)
c.917A>C (p.Glu306Ala)
n.620A>C
c.785A>C (p.Glu262Ala)
c.557-2593A>C (n.557-2593A>C)
n.283-8101A>C
c.770A>C (p.Glu257Ala)
15g.67184772A>GCA392956871SMAD3c.332A>G (p.Glu111Gly)
c.602A>G (p.Glu201Gly)
c.917A>G (p.Glu306Gly)
n.620A>G
c.785A>G (p.Glu262Gly)
c.557-2593A>G (n.557-2593A>G)
n.283-8101A>G
c.770A>G (p.Glu257Gly)
15g.67184772A>TCA392956874SMAD3c.332A>T (p.Glu111Val)
c.602A>T (p.Glu201Val)
c.917A>T (p.Glu306Val)
n.620A>T
c.785A>T (p.Glu262Val)
c.557-2593A>T (n.557-2593A>T)
n.283-8101A>T
c.770A>T (p.Glu257Val)
15g.67184773G>ACA490916495SMAD3c.333G>A (p.Glu111=)
c.603G>A (p.Glu201=)
c.918G>A (p.Glu306=)
n.621G>A
c.786G>A (p.Glu262=)
c.557-2592G>A (n.557-2592G>A)
n.283-8100G>A
c.771G>A (p.Glu257=)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.67184773G>CCA392956876SMAD3c.333G>C (p.Glu111Asp)
c.603G>C (p.Glu201Asp)
c.918G>C (p.Glu306Asp)
n.621G>C
c.786G>C (p.Glu262Asp)
c.557-2592G>C (n.557-2592G>C)
n.283-8100G>C
c.771G>C (p.Glu257Asp)
15g.67184773G=CA2184419231SMAD3c.333G= (p.Glu111=)
c.603G= (p.Glu201=)
c.918G= (p.Glu306=)
n.621G=
c.786G= (p.Glu262=)
c.557-2592G= (n.557-2592G=)
n.283-8100G=
c.771G= (p.Glu257=)
15g.67184773G>TCA392956879SMAD3c.333G>T (p.Glu111Asp)
c.603G>T (p.Glu201Asp)
c.918G>T (p.Glu306Asp)
n.621G>T
c.786G>T (p.Glu262Asp)
c.557-2592G>T (n.557-2592G>T)
n.283-8100G>T
c.771G>T (p.Glu257Asp)
15g.67184774T>ACA392956885SMAD3c.334T>A (p.Cys112Ser)
c.604T>A (p.Cys202Ser)
c.919T>A (p.Cys307Ser)
n.622T>A
c.787T>A (p.Cys263Ser)
c.557-2591T>A (n.557-2591T>A)
n.283-8099T>A
c.772T>A (p.Cys258Ser)
15g.67184774T>CCA392956883SMAD3c.334T>C (p.Cys112Arg)
c.604T>C (p.Cys202Arg)
c.919T>C (p.Cys307Arg)
n.622T>C
c.787T>C (p.Cys263Arg)
c.557-2591T>C (n.557-2591T>C)
n.283-8099T>C
c.772T>C (p.Cys258Arg)
15g.67184774T>GCA392956881SMAD3c.334T>G (p.Cys112Gly)
c.604T>G (p.Cys202Gly)
c.919T>G (p.Cys307Gly)
n.622T>G
c.787T>G (p.Cys263Gly)
c.557-2591T>G (n.557-2591T>G)
n.283-8099T>G
c.772T>G (p.Cys258Gly)
15g.67184775G>ACA392956888SMAD3c.335G>A (p.Cys112Tyr)
c.605G>A (p.Cys202Tyr)
c.920G>A (p.Cys307Tyr)
n.623G>A
c.788G>A (p.Cys263Tyr)
c.557-2590G>A (n.557-2590G>A)
n.283-8098G>A
c.1G>A
c.773G>A (p.Cys258Tyr)
ClinVar
15g.67184775G>CCA392956890SMAD3c.335G>C (p.Cys112Ser)
c.605G>C (p.Cys202Ser)
c.920G>C (p.Cys307Ser)
n.623G>C
c.788G>C (p.Cys263Ser)
c.557-2590G>C (n.557-2590G>C)
n.283-8098G>C
c.1G>C
c.773G>C (p.Cys258Ser)
15g.67184775G>TCA392956892SMAD3c.335G>T (p.Cys112Phe)
c.605G>T (p.Cys202Phe)
c.920G>T (p.Cys307Phe)
n.623G>T
c.788G>T (p.Cys263Phe)
c.557-2590G>T (n.557-2590G>T)
n.283-8098G>T
c.1G>T
c.773G>T (p.Cys258Phe)
15g.67184776C>ACA392956894SMAD3c.336C>A (p.Cys112Ter)
c.606C>A (p.Cys202Ter)
c.921C>A (p.Cys307Ter)
n.624C>A
c.789C>A (p.Cys263Ter)
c.557-2589C>A (n.557-2589C>A)
n.283-8097C>A
c.2C>A
c.774C>A (p.Cys258Ter)
15g.67184776C>GCA392956897SMAD3c.336C>G (p.Cys112Trp)
c.606C>G (p.Cys202Trp)
c.921C>G (p.Cys307Trp)
n.624C>G
c.789C>G (p.Cys263Trp)
c.557-2589C>G (n.557-2589C>G)
n.283-8097C>G
c.2C>G
c.774C>G (p.Cys258Trp)
15g.67184776C>TCA490916496SMAD3c.336C>T (p.Cys112=)
c.606C>T (p.Cys202=)
c.921C>T (p.Cys307=)
n.624C>T
c.789C>T (p.Cys263=)
c.557-2589C>T (n.557-2589C>T)
n.283-8097C>T
c.2C>T
c.774C>T (p.Cys258=)
dbSNP
15g.67184777C>ACA392956902SMAD3c.337C>A (p.Leu113Ile)
c.607C>A (p.Leu203Ile)
c.922C>A (p.Leu308Ile)
n.625C>A
c.790C>A (p.Leu264Ile)
c.337C>A
c.557-2588C>A (n.557-2588C>A)
n.283-8096C>A
c.3C>A
c.775C>A (p.Leu259Ile)
15g.67184777C=CA2184419235SMAD3c.337C= (p.Leu113=)
c.607C= (p.Leu203=)
c.922C= (p.Leu308=)
n.625C=
c.790C= (p.Leu264=)
c.337C=
c.557-2588C= (n.557-2588C=)
n.283-8096C=
c.3C=
c.775C= (p.Leu259=)
15g.67184777C>GCA392956900SMAD3c.337C>G (p.Leu113Val)
c.607C>G (p.Leu203Val)
c.922C>G (p.Leu308Val)
n.625C>G
c.790C>G (p.Leu264Val)
c.337C>G
c.557-2588C>G (n.557-2588C>G)
n.283-8096C>G
c.3C>G
c.775C>G (p.Leu259Val)
15g.67184777C>TCA062844SMAD3c.337C>T (p.Leu113Phe)
c.607C>T (p.Leu203Phe)
c.922C>T (p.Leu308Phe)
n.625C>T
c.790C>T (p.Leu264Phe)
c.337C>T
c.557-2588C>T (n.557-2588C>T)
n.283-8096C>T
c.3C>T
c.775C>T (p.Leu259Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.67184778T>ACA392956904SMAD3c.338T>A (p.Leu113His)
c.608T>A (p.Leu203His)
c.923T>A (p.Leu308His)
n.626T>A
c.791T>A (p.Leu264His)
c.338T>A
c.557-2587T>A (n.557-2587T>A)
n.283-8095T>A
c.4T>A
c.776T>A (p.Leu259His)
15g.67184778T>CCA392956906SMAD3c.338T>C (p.Leu113Pro)
c.608T>C (p.Leu203Pro)
c.923T>C (p.Leu308Pro)
n.626T>C
c.791T>C (p.Leu264Pro)
c.338T>C
c.557-2587T>C (n.557-2587T>C)
n.283-8095T>C
c.4T>C
c.776T>C (p.Leu259Pro)
15g.67184778T>GCA392956908SMAD3c.338T>G (p.Leu113Arg)
c.608T>G (p.Leu203Arg)
c.923T>G (p.Leu308Arg)
n.626T>G
c.791T>G (p.Leu264Arg)
c.338T>G
c.557-2587T>G (n.557-2587T>G)
n.283-8095T>G
c.4T>G
c.776T>G (p.Leu259Arg)
15g.67184779C>ACA490916500SMAD3c.339C>A (p.Leu113=)
c.609C>A (p.Leu203=)
c.924C>A (p.Leu308=)
n.627C>A
c.792C>A (p.Leu264=)
c.557-2586C>A (n.557-2586C>A)
n.283-8094C>A
c.5C>A
c.777C>A (p.Leu259=)
15g.67184779C=CA2184419239SMAD3c.339C= (p.Leu113=)
c.609C= (p.Leu203=)
c.924C= (p.Leu308=)
n.627C=
c.792C= (p.Leu264=)
c.557-2586C= (n.557-2586C=)
n.283-8094C=
c.5C=
c.777C= (p.Leu259=)
15g.67184779C>GCA490916502SMAD3c.339C>G (p.Leu113=)
c.609C>G (p.Leu203=)
c.924C>G (p.Leu308=)
n.627C>G
c.792C>G (p.Leu264=)
c.557-2586C>G (n.557-2586C>G)
n.283-8094C>G
c.5C>G
c.777C>G (p.Leu259=)
15g.67184779C>TCA490916503SMAD3c.339C>T (p.Leu113=)
c.609C>T (p.Leu203=)
c.924C>T (p.Leu308=)
n.627C>T
c.792C>T (p.Leu264=)
c.557-2586C>T (n.557-2586C>T)
n.283-8094C>T
c.5C>T
c.777C>T (p.Leu259=)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
15g.67184780A=CA2184419245SMAD3c.340A= (p.Ser114=)
c.610A= (p.Ser204=)
c.925A= (p.Ser309=)
n.628A=
c.793A= (p.Ser265=)
c.557-2585A= (n.557-2585A=)
n.283-8093A=
c.6A=
c.778A= (p.Ser260=)
15g.67184780A>CCA392956910SMAD3c.340A>C (p.Ser114Arg)
c.610A>C (p.Ser204Arg)
c.925A>C (p.Ser309Arg)
n.628A>C
c.793A>C (p.Ser265Arg)
c.557-2585A>C (n.557-2585A>C)
n.283-8093A>C
c.6A>C
c.778A>C (p.Ser260Arg)
15g.67184780A>GCA062848SMAD3c.340A>G (p.Ser114Gly)
c.610A>G (p.Ser204Gly)
c.925A>G (p.Ser309Gly)
n.628A>G
c.793A>G (p.Ser265Gly)
c.557-2585A>G (n.557-2585A>G)
n.283-8093A>G
c.6A>G
c.778A>G (p.Ser260Gly)
ClinVar dbSNP ExAC gnomAD v4
15g.67184780A>TCA392956915SMAD3c.340A>T (p.Ser114Cys)
c.610A>T (p.Ser204Cys)
c.925A>T (p.Ser309Cys)
n.628A>T
c.793A>T (p.Ser265Cys)
c.557-2585A>T (n.557-2585A>T)
n.283-8093A>T
c.6A>T
c.778A>T (p.Ser260Cys)
15g.67184781G>ACA392956918SMAD3c.341G>A (p.Ser114Asn)
c.611G>A (p.Ser204Asn)
c.926G>A (p.Ser309Asn)
n.629G>A
c.794G>A (p.Ser265Asn)
c.557-2584G>A (n.557-2584G>A)
n.283-8092G>A
c.7G>A
c.779G>A (p.Ser260Asn)
15g.67184781G>CCA392956921SMAD3c.341G>C (p.Ser114Thr)
c.611G>C (p.Ser204Thr)
c.926G>C (p.Ser309Thr)
n.629G>C
c.794G>C (p.Ser265Thr)
c.557-2584G>C (n.557-2584G>C)
n.283-8092G>C
c.7G>C
c.779G>C (p.Ser260Thr)
15g.67184781G>TCA392956919SMAD3c.341G>T (p.Ser114Ile)
c.611G>T (p.Ser204Ile)
c.926G>T (p.Ser309Ile)
n.629G>T
c.794G>T (p.Ser265Ile)
c.557-2584G>T (n.557-2584G>T)
n.283-8092G>T
c.7G>T
c.779G>T (p.Ser260Ile)
15g.67184782T>ACA392956924SMAD3c.342T>A (p.Ser114Arg)
c.612T>A (p.Ser204Arg)
c.927T>A (p.Ser309Arg)
n.630T>A
c.795T>A (p.Ser265Arg)
c.557-2583T>A (n.557-2583T>A)
n.283-8091T>A
c.8T>A
c.780T>A (p.Ser260Arg)
15g.67184782T>CCA490916511SMAD3c.342T>C (p.Ser114=)
c.612T>C (p.Ser204=)
c.927T>C (p.Ser309=)
n.630T>C
c.795T>C (p.Ser265=)
c.557-2583T>C (n.557-2583T>C)
n.283-8091T>C
c.8T>C
c.780T>C (p.Ser260=)
ClinVar gnomAD v4
15g.67184782T>GCA392956927SMAD3c.342T>G (p.Ser114Arg)
c.612T>G (p.Ser204Arg)
c.927T>G (p.Ser309Arg)
n.630T>G
c.795T>G (p.Ser265Arg)
c.557-2583T>G (n.557-2583T>G)
n.283-8091T>G
c.8T>G
c.780T>G (p.Ser260Arg)
15g.67184783G>ACA392956929SMAD3c.343G>A (p.Asp115Asn)
c.613G>A (p.Asp205Asn)
c.928G>A (p.Asp310Asn)
n.631G>A
c.796G>A (p.Asp266Asn)
c.557-2582G>A (n.557-2582G>A)
n.283-8090G>A
c.9G>A
c.781G>A (p.Asp261Asn)
15g.67184783G>CCA392956931SMAD3c.343G>C (p.Asp115His)
c.613G>C (p.Asp205His)
c.928G>C (p.Asp310His)
n.631G>C
c.796G>C (p.Asp266His)
c.557-2582G>C (n.557-2582G>C)
n.283-8090G>C
c.9G>C
c.781G>C (p.Asp261His)
15g.67184783G>TCA392956933SMAD3c.343G>T (p.Asp115Tyr)
c.613G>T (p.Asp205Tyr)
c.928G>T (p.Asp310Tyr)
n.631G>T
c.796G>T (p.Asp266Tyr)
c.557-2582G>T (n.557-2582G>T)
n.283-8090G>T
c.9G>T
c.781G>T (p.Asp261Tyr)
15g.67184784A>CCA392956936SMAD3c.344A>C (p.Asp115Ala)
c.614A>C (p.Asp205Ala)
c.929A>C (p.Asp310Ala)
n.632A>C
c.797A>C (p.Asp266Ala)
c.557-2581A>C (n.557-2581A>C)
n.283-8089A>C
c.10A>C
c.782A>C (p.Asp261Ala)
15g.67184784A>GCA392956938SMAD3c.344A>G (p.Asp115Gly)
c.614A>G (p.Asp205Gly)
c.929A>G (p.Asp310Gly)
n.632A>G
c.797A>G (p.Asp266Gly)
c.557-2581A>G (n.557-2581A>G)
n.283-8089A>G
c.10A>G
c.782A>G (p.Asp261Gly)
ClinVar
15g.67184784A>TCA392956940SMAD3c.344A>T (p.Asp115Val)
c.614A>T (p.Asp205Val)
c.929A>T (p.Asp310Val)
n.632A>T
c.797A>T (p.Asp266Val)
c.557-2581A>T (n.557-2581A>T)
n.283-8089A>T
c.10A>T
c.782A>T (p.Asp261Val)
15g.67184785C>ACA392956943SMAD3c.345C>A (p.Asp115Glu)
c.615C>A (p.Asp205Glu)
c.930C>A (p.Asp310Glu)
n.633C>A
c.798C>A (p.Asp266Glu)
c.557-2580C>A (n.557-2580C>A)
n.283-8088C>A
c.11C>A
c.783C>A (p.Asp261Glu)
15g.67184785C>GCA392956945SMAD3c.345C>G (p.Asp115Glu)
c.615C>G (p.Asp205Glu)
c.930C>G (p.Asp310Glu)
n.633C>G
c.798C>G (p.Asp266Glu)
c.557-2580C>G (n.557-2580C>G)
n.283-8088C>G
c.11C>G
c.783C>G (p.Asp261Glu)
15g.67184785C>TCA490916513SMAD3c.345C>T (p.Asp115=)
c.615C>T (p.Asp205=)
c.930C>T (p.Asp310=)
n.633C>T
c.798C>T (p.Asp266=)
c.557-2580C>T (n.557-2580C>T)
n.283-8088C>T
c.11C>T
c.783C>T (p.Asp261=)
gnomAD v4
15g.67184786A=CA2184419255SMAD3c.346A= (p.Ser116=)
c.616A= (p.Ser206=)
c.931A= (p.Ser311=)
n.634A=
c.799A= (p.Ser267=)
c.557-2579A= (n.557-2579A=)
n.283-8087A=
c.12A=
c.784A= (p.Ser262=)
15g.67184786A>CCA392956952SMAD3c.346A>C (p.Ser116Arg)
c.616A>C (p.Ser206Arg)
c.931A>C (p.Ser311Arg)
n.634A>C
c.799A>C (p.Ser267Arg)
c.557-2579A>C (n.557-2579A>C)
n.283-8087A>C
c.12A>C
c.784A>C (p.Ser262Arg)
15g.67184786A>GCA062854SMAD3c.346A>G (p.Ser116Gly)
c.616A>G (p.Ser206Gly)
c.931A>G (p.Ser311Gly)
n.634A>G
c.799A>G (p.Ser267Gly)
c.557-2579A>G (n.557-2579A>G)
n.283-8087A>G
c.12A>G
c.784A>G (p.Ser262Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.67184786A>TCA392956948SMAD3c.346A>T (p.Ser116Cys)
c.616A>T (p.Ser206Cys)
c.931A>T (p.Ser311Cys)
n.634A>T
c.799A>T (p.Ser267Cys)
c.557-2579A>T (n.557-2579A>T)
n.283-8087A>T
c.12A>T
c.784A>T (p.Ser262Cys)
15g.67184787G>ACA392956955SMAD3c.347G>A (p.Ser116Asn)
c.617G>A (p.Ser206Asn)
c.932G>A (p.Ser311Asn)
n.635G>A
c.800G>A (p.Ser267Asn)
c.557-2578G>A (n.557-2578G>A)
n.283-8086G>A
c.13G>A
c.785G>A (p.Ser262Asn)
15g.67184787G>CCA392956960SMAD3c.347G>C (p.Ser116Thr)
c.617G>C (p.Ser206Thr)
c.932G>C (p.Ser311Thr)
n.635G>C
c.800G>C (p.Ser267Thr)
c.557-2578G>C (n.557-2578G>C)
n.283-8086G>C
c.13G>C
c.785G>C (p.Ser262Thr)
15g.67184787G>TCA392956957SMAD3c.347G>T (p.Ser116Ile)
c.617G>T (p.Ser206Ile)
c.932G>T (p.Ser311Ile)
n.635G>T
c.800G>T (p.Ser267Ile)
c.557-2578G>T (n.557-2578G>T)
n.283-8086G>T
c.13G>T
c.785G>T (p.Ser262Ile)
15g.67184788C>ACA392956963SMAD3c.348C>A (p.Ser116Arg)
c.618C>A (p.Ser206Arg)
c.933C>A (p.Ser311Arg)
n.636C>A
c.801C>A (p.Ser267Arg)
c.557-2577C>A (n.557-2577C>A)
n.283-8085C>A
c.14C>A
c.786C>A (p.Ser262Arg)
dbSNP
15g.67184788C=CA2184419264SMAD3c.348C= (p.Ser116=)
c.618C= (p.Ser206=)
c.933C= (p.Ser311=)
n.636C=
c.801C= (p.Ser267=)
c.557-2577C= (n.557-2577C=)
n.283-8085C=
c.14C=
c.786C= (p.Ser262=)
15g.67184788C>GCA392956964SMAD3c.348C>G (p.Ser116Arg)
c.618C>G (p.Ser206Arg)
c.933C>G (p.Ser311Arg)
n.636C>G
c.801C>G (p.Ser267Arg)
c.557-2577C>G (n.557-2577C>G)
n.283-8085C>G
c.14C>G
c.786C>G (p.Ser262Arg)
15g.67184788C>TCA062858SMAD3c.348C>T (p.Ser116=)
c.618C>T (p.Ser206=)
c.933C>T (p.Ser311=)
n.636C>T
c.801C>T (p.Ser267=)
c.557-2577C>T (n.557-2577C>T)
n.283-8085C>T
c.14C>T
c.786C>T (p.Ser262=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
15g.67184789G>ACA322888SMAD3c.349G>A (p.Ala117Thr)
c.619G>A (p.Ala207Thr)
c.934G>A (p.Ala312Thr)
n.637G>A
c.802G>A (p.Ala268Thr)
c.557-2576G>A (n.557-2576G>A)
n.283-8084G>A
c.15G>A
c.787G>A (p.Ala263Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.67184789G>CCA062863SMAD3c.349G>C (p.Ala117Pro)
c.619G>C (p.Ala207Pro)
c.934G>C (p.Ala312Pro)
n.637G>C
c.802G>C (p.Ala268Pro)
c.557-2576G>C (n.557-2576G>C)
n.283-8084G>C
c.15G>C
c.787G>C (p.Ala263Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.67184789G=CA2184419269SMAD3c.349G= (p.Ala117=)
c.619G= (p.Ala207=)
c.934G= (p.Ala312=)
n.637G=
c.802G= (p.Ala268=)
c.557-2576G= (n.557-2576G=)
n.283-8084G=
c.15G=
c.787G= (p.Ala263=)
15g.67184789G>TCA392956971SMAD3c.349G>T (p.Ala117Ser)
c.619G>T (p.Ala207Ser)
c.934G>T (p.Ala312Ser)
n.637G>T
c.802G>T (p.Ala268Ser)
c.557-2576G>T (n.557-2576G>T)
n.283-8084G>T
c.15G>T
c.787G>T (p.Ala263Ser)
15g.67184790C>ACA392956972SMAD3c.350C>A (p.Ala117Asp)
c.620C>A (p.Ala207Asp)
c.935C>A (p.Ala312Asp)
n.638C>A
c.803C>A (p.Ala268Asp)
c.557-2575C>A (n.557-2575C>A)
n.283-8083C>A
c.16C>A
c.788C>A (p.Ala263Asp)
15g.67184790C>GCA392956975SMAD3c.350C>G (p.Ala117Gly)
c.620C>G (p.Ala207Gly)
c.935C>G (p.Ala312Gly)
n.638C>G
c.803C>G (p.Ala268Gly)
c.557-2575C>G (n.557-2575C>G)
n.283-8083C>G
c.16C>G
c.788C>G (p.Ala263Gly)
15g.67184790C>TCA392956978SMAD3c.350C>T (p.Ala117Val)
c.620C>T (p.Ala207Val)
c.935C>T (p.Ala312Val)
n.638C>T
c.803C>T (p.Ala268Val)
c.557-2575C>T (n.557-2575C>T)
n.283-8083C>T
c.16C>T
c.788C>T (p.Ala263Val)
gnomAD v4
15g.67184791T>ACA490916522SMAD3c.351T>A (p.Ala117=)
c.621T>A (p.Ala207=)
c.936T>A (p.Ala312=)
n.639T>A
c.804T>A (p.Ala268=)
c.557-2574T>A (n.557-2574T>A)
n.283-8082T>A
c.17T>A
c.789T>A (p.Ala263=)
15g.67184791T>CCA490916520SMAD3c.351T>C (p.Ala117=)
c.621T>C (p.Ala207=)
c.936T>C (p.Ala312=)
n.639T>C
c.804T>C (p.Ala268=)
c.557-2574T>C (n.557-2574T>C)
n.283-8082T>C
c.17T>C
c.789T>C (p.Ala263=)
ClinVar dbSNP
15g.67184791T>GCA490916519SMAD3c.351T>G (p.Ala117=)
c.621T>G (p.Ala207=)
c.936T>G (p.Ala312=)
n.639T>G
c.804T>G (p.Ala268=)
c.557-2574T>G (n.557-2574T>G)
n.283-8082T>G
c.17T>G
c.789T>G (p.Ala263=)
ClinVar dbSNP
15g.67184792A=CA2184419275SMAD3c.352A= (p.Ile118=)
c.622A= (p.Ile208=)
c.937A= (p.Ile313=)
n.640A=
c.805A= (p.Ile269=)
c.557-2573A= (n.557-2573A=)
n.283-8081A=
c.18A=
c.790A= (p.Ile264=)
15g.67184792A>CCA392956979SMAD3c.352A>C (p.Ile118Leu)
c.622A>C (p.Ile208Leu)
c.937A>C (p.Ile313Leu)
n.640A>C
c.805A>C (p.Ile269Leu)
c.557-2573A>C (n.557-2573A>C)
n.283-8081A>C
c.18A>C
c.790A>C (p.Ile264Leu)
15g.67184792A>GCA392956981SMAD3c.352A>G (p.Ile118Val)
c.622A>G (p.Ile208Val)
c.937A>G (p.Ile313Val)
n.640A>G
c.805A>G (p.Ile269Val)
c.557-2573A>G (n.557-2573A>G)
n.283-8081A>G
c.18A>G
c.790A>G (p.Ile264Val)
ClinVar dbSNP
15g.67184792A>TCA392956983SMAD3c.352A>T (p.Ile118Phe)
c.622A>T (p.Ile208Phe)
c.937A>T (p.Ile313Phe)
n.640A>T
c.805A>T (p.Ile269Phe)
c.557-2573A>T (n.557-2573A>T)
n.283-8081A>T
c.18A>T
c.790A>T (p.Ile264Phe)
15g.67184792_67184793delinsATCA2184419273SMAD3c.352_353delinsAT (p.Ile118=)
c.622_623delinsAT (p.Ile208=)
c.937_938delinsAT (p.Ile313=)
n.640_641delinsAT
c.805_806delinsAT (p.Ile269=)
c.557-2573_557-2572delinsAT (n.557-2573_557-2572delinsAT)
n.283-8081_283-8080delinsAT
c.18_19delinsAT
c.790_791delinsAT (p.Ile264=)
15g.67184793T>ACA392956987SMAD3c.353T>A (p.Ile118Asn)
c.623T>A (p.Ile208Asn)
c.938T>A (p.Ile313Asn)
n.641T>A
c.806T>A (p.Ile269Asn)
c.557-2572T>A (n.557-2572T>A)
n.283-8080T>A
c.19T>A
c.791T>A (p.Ile264Asn)
gnomAD v4
15g.67184793T>CCA392956991SMAD3c.353T>C (p.Ile118Thr)
c.623T>C (p.Ile208Thr)
c.938T>C (p.Ile313Thr)
n.641T>C
c.806T>C (p.Ile269Thr)
c.557-2572T>C (n.557-2572T>C)
n.283-8080T>C
c.19T>C
c.791T>C (p.Ile264Thr)
15g.67184793T>GCA392956989SMAD3c.353T>G (p.Ile118Ser)
c.623T>G (p.Ile208Ser)
c.938T>G (p.Ile313Ser)
n.641T>G
c.806T>G (p.Ile269Ser)
c.557-2572T>G (n.557-2572T>G)
n.283-8080T>G
c.19T>G
c.791T>G (p.Ile264Ser)
15g.67184797dupCA645585102SMAD3c.357dup (p.Val120CysfsTer7)
c.627dup (p.Val210CysfsTer7)
c.942dup (p.Val315CysfsTer7)
n.645dup
c.810dup (p.Val271CysfsTer7)
c.557-2568dup (n.557-2568dup)
n.283-8076dup
c.23dup
c.795dup (p.Val266CysfsTer7)
COSMIC COSMIC
15g.67184797delCA323883SMAD3c.357del (p.Phe119LeufsTer27)
c.627del (p.Phe209LeufsTer27)
c.942del (p.Phe314LeufsTer?)
c.942del (p.Phe314LeufsTer27)
n.645del
c.810del (p.Phe270LeufsTer27)
c.557-2568del (n.557-2568del)
n.283-8076del
c.23del
c.795del (p.Phe265LeufsTer27)
ClinVar dbSNP
15g.67184794T>ACA490916528SMAD3c.354T>A (p.Ile118=)
c.624T>A (p.Ile208=)
c.939T>A (p.Ile313=)
n.642T>A
c.807T>A (p.Ile269=)
c.557-2571T>A (n.557-2571T>A)
n.283-8079T>A
c.20T>A
c.792T>A (p.Ile264=)
15g.67184794T>CCA490916529SMAD3c.354T>C (p.Ile118=)
c.624T>C (p.Ile208=)
c.939T>C (p.Ile313=)
n.642T>C
c.807T>C (p.Ile269=)
c.557-2571T>C (n.557-2571T>C)
n.283-8079T>C
c.20T>C
c.792T>C (p.Ile264=)
15g.67184794T>GCA392956993SMAD3c.354T>G (p.Ile118Met)
c.624T>G (p.Ile208Met)
c.939T>G (p.Ile313Met)
n.642T>G
c.807T>G (p.Ile269Met)
c.557-2571T>G (n.557-2571T>G)
n.283-8079T>G
c.20T>G
c.792T>G (p.Ile264Met)
15g.67184795T>ACA392956997SMAD3c.355T>A (p.Phe119Ile)
c.625T>A (p.Phe209Ile)
c.940T>A (p.Phe314Ile)
n.643T>A
c.808T>A (p.Phe270Ile)
c.557-2570T>A (n.557-2570T>A)
n.283-8078T>A
c.21T>A
c.793T>A (p.Phe265Ile)
15g.67184795T>CCA392957000SMAD3c.355T>C (p.Phe119Leu)
c.625T>C (p.Phe209Leu)
c.940T>C (p.Phe314Leu)
n.643T>C
c.808T>C (p.Phe270Leu)
c.557-2570T>C (n.557-2570T>C)
n.283-8078T>C
c.21T>C
c.793T>C (p.Phe265Leu)
15g.67184795T>GCA392957002SMAD3c.355T>G (p.Phe119Val)
c.625T>G (p.Phe209Val)
c.940T>G (p.Phe314Val)
n.643T>G
c.808T>G (p.Phe270Val)
c.557-2570T>G (n.557-2570T>G)
n.283-8078T>G
c.21T>G
c.793T>G (p.Phe265Val)
15g.67184796T>ACA392957005SMAD3c.356T>A (p.Phe119Tyr)
c.626T>A (p.Phe209Tyr)
c.941T>A (p.Phe314Tyr)
n.644T>A
c.809T>A (p.Phe270Tyr)
c.557-2569T>A (n.557-2569T>A)
n.283-8077T>A
c.22T>A
c.794T>A (p.Phe265Tyr)
15g.67184796T>CCA392957007SMAD3c.356T>C (p.Phe119Ser)
c.626T>C (p.Phe209Ser)
c.941T>C (p.Phe314Ser)
n.644T>C
c.809T>C (p.Phe270Ser)
c.557-2569T>C (n.557-2569T>C)
n.283-8077T>C
c.22T>C
c.794T>C (p.Phe265Ser)
15g.67184796T>GCA392957010SMAD3c.356T>G (p.Phe119Cys)
c.626T>G (p.Phe209Cys)
c.941T>G (p.Phe314Cys)
n.644T>G
c.809T>G (p.Phe270Cys)
c.557-2569T>G (n.557-2569T>G)
n.283-8077T>G
c.22T>G
c.794T>G (p.Phe265Cys)
15g.67184797T>ACA392957013SMAD3c.357T>A (p.Phe119Leu)
c.627T>A (p.Phe209Leu)
c.942T>A (p.Phe314Leu)
n.645T>A
c.810T>A (p.Phe270Leu)
c.557-2568T>A (n.557-2568T>A)
n.283-8076T>A
c.23T>A
c.795T>A (p.Phe265Leu)
15g.67184797T>CCA490916534SMAD3c.357T>C (p.Phe119=)
c.627T>C (p.Phe209=)
c.942T>C (p.Phe314=)
n.645T>C
c.810T>C (p.Phe270=)
c.557-2568T>C (n.557-2568T>C)
n.283-8076T>C
c.23T>C
c.795T>C (p.Phe265=)
gnomAD v4
15g.67184797T>GCA392957014SMAD3c.357T>G (p.Phe119Leu)
c.627T>G (p.Phe209Leu)
c.942T>G (p.Phe314Leu)
n.645T>G
c.810T>G (p.Phe270Leu)
c.557-2568T>G (n.557-2568T>G)
n.283-8076T>G
c.23T>G
c.795T>G (p.Phe265Leu)
15g.67184798G>ACA392957019SMAD3c.358G>A (p.Val120Ile)
c.628G>A (p.Val210Ile)
c.943G>A (p.Val315Ile)
n.646G>A
c.811G>A (p.Val271Ile)
c.557-2567G>A (n.557-2567G>A)
n.283-8075G>A
c.24G>A
c.796G>A (p.Val266Ile)
ClinVar dbSNP gnomAD v4
15g.67184798G>CCA392957022SMAD3c.358G>C (p.Val120Leu)
c.628G>C (p.Val210Leu)
c.943G>C (p.Val315Leu)
n.646G>C
c.811G>C (p.Val271Leu)
c.557-2567G>C (n.557-2567G>C)
n.283-8075G>C
c.24G>C
c.796G>C (p.Val266Leu)
15g.67184798G=CA2184419291SMAD3c.358G= (p.Val120=)
c.628G= (p.Val210=)
c.943G= (p.Val315=)
n.646G=
c.811G= (p.Val271=)
c.557-2567G= (n.557-2567G=)
n.283-8075G=
c.24G=
c.796G= (p.Val266=)
15g.67184798G>TCA392957016SMAD3c.358G>T (p.Val120Phe)
c.628G>T (p.Val210Phe)
c.943G>T (p.Val315Phe)
n.646G>T
c.811G>T (p.Val271Phe)
c.557-2567G>T (n.557-2567G>T)
n.283-8075G>T
c.24G>T
c.796G>T (p.Val266Phe)
ClinVar dbSNP gnomAD v4
15g.67184799T>ACA392957025SMAD3c.359T>A (p.Val120Asp)
c.629T>A (p.Val210Asp)
c.944T>A (p.Val315Asp)
n.647T>A
c.812T>A (p.Val271Asp)
c.557-2566T>A (n.557-2566T>A)
n.283-8074T>A
c.25T>A
c.797T>A (p.Val266Asp)
15g.67184799T>CCA392957027SMAD3c.359T>C (p.Val120Ala)
c.629T>C (p.Val210Ala)
c.944T>C (p.Val315Ala)
n.647T>C
c.812T>C (p.Val271Ala)
c.557-2566T>C (n.557-2566T>C)
n.283-8074T>C
c.25T>C
c.797T>C (p.Val266Ala)
15g.67184799T>GCA392957029SMAD3c.359T>G (p.Val120Gly)
c.629T>G (p.Val210Gly)
c.944T>G (p.Val315Gly)
n.647T>G
c.812T>G (p.Val271Gly)
c.557-2566T>G (n.557-2566T>G)
n.283-8074T>G
c.25T>G
c.797T>G (p.Val266Gly)
15g.67184800C>ACA490916541SMAD3c.360C>A (p.Val120=)
c.630C>A (p.Val210=)
c.945C>A (p.Val315=)
n.648C>A
c.813C>A (p.Val271=)
c.557-2565C>A (n.557-2565C>A)
n.283-8073C>A
c.26C>A
c.798C>A (p.Val266=)
15g.67184800C=CA2184419297SMAD3c.360C= (p.Val120=)
c.630C= (p.Val210=)
c.945C= (p.Val315=)
n.648C=
c.813C= (p.Val271=)
c.557-2565C= (n.557-2565C=)
n.283-8073C=
c.26C=
c.798C= (p.Val266=)
15g.67184800C>GCA490916539SMAD3c.360C>G (p.Val120=)
c.630C>G (p.Val210=)
c.945C>G (p.Val315=)
n.648C>G
c.813C>G (p.Val271=)
c.557-2565C>G (n.557-2565C>G)
n.283-8073C>G
c.26C>G
c.798C>G (p.Val266=)
dbSNP gnomAD v3 gnomAD v4
15g.67184800C>TCA490916540SMAD3c.360C>T (p.Val120=)
c.630C>T (p.Val210=)
c.945C>T (p.Val315=)
n.648C>T
c.813C>T (p.Val271=)
c.557-2565C>T (n.557-2565C>T)
n.283-8073C>T
c.26C>T
c.798C>T (p.Val266=)
15g.67184801C>ACA392957032SMAD3c.361C>A (p.Gln121Lys)
c.631C>A (p.Gln211Lys)
c.946C>A (p.Gln316Lys)
n.649C>A
c.814C>A (p.Gln272Lys)
c.557-2564C>A (n.557-2564C>A)
n.283-8072C>A
c.27C>A
c.799C>A (p.Gln267Lys)
15g.67184801C=CA2184419307SMAD3c.361C= (p.Gln121=)
c.631C= (p.Gln211=)
c.946C= (p.Gln316=)
n.649C=
c.814C= (p.Gln272=)
c.557-2564C= (n.557-2564C=)
n.283-8072C=
c.27C=
c.799C= (p.Gln267=)
15g.67184801C>GCA392957035SMAD3c.361C>G (p.Gln121Glu)
c.631C>G (p.Gln211Glu)
c.946C>G (p.Gln316Glu)
n.649C>G
c.814C>G (p.Gln272Glu)
c.557-2564C>G (n.557-2564C>G)
n.283-8072C>G
c.27C>G
c.799C>G (p.Gln267Glu)
15g.67184801C>TCA392957037SMAD3c.361C>T (p.Gln121Ter)
c.631C>T (p.Gln211Ter)
c.946C>T (p.Gln316Ter)
n.649C>T
c.814C>T (p.Gln272Ter)
c.557-2564C>T (n.557-2564C>T)
n.283-8072C>T
c.27C>T
c.799C>T (p.Gln267Ter)
ClinVar dbSNP COSMIC COSMIC
15g.67184802A=CA2184419309SMAD3c.362A= (p.Gln121=)
c.632A= (p.Gln211=)
c.947A= (p.Gln316=)
n.650A=
c.815A= (p.Gln272=)
c.557-2563A= (n.557-2563A=)
n.283-8071A=
c.28A=
c.800A= (p.Gln267=)
15g.67184802A>CCA324543SMAD3c.362A>C (p.Gln121Pro)
c.632A>C (p.Gln211Pro)
c.947A>C (p.Gln316Pro)
n.650A>C
c.815A>C (p.Gln272Pro)
c.557-2563A>C (n.557-2563A>C)
n.283-8071A>C
c.28A>C
c.800A>C (p.Gln267Pro)
ClinVar dbSNP
15g.67184802A>GCA392957042SMAD3c.362A>G (p.Gln121Arg)
c.632A>G (p.Gln211Arg)
c.947A>G (p.Gln316Arg)
n.650A>G
c.815A>G (p.Gln272Arg)
c.557-2563A>G (n.557-2563A>G)
n.283-8071A>G
c.28A>G
c.800A>G (p.Gln267Arg)
ClinVar
15g.67184802A>TCA392957044SMAD3c.362A>T (p.Gln121Leu)
c.632A>T (p.Gln211Leu)
c.947A>T (p.Gln316Leu)
n.650A>T
c.815A>T (p.Gln272Leu)
c.557-2563A>T (n.557-2563A>T)
n.283-8071A>T
c.28A>T
c.800A>T (p.Gln267Leu)
15g.67184803G>ACA490916544SMAD3c.363G>A (p.Gln121=)
c.633G>A (p.Gln211=)
c.948G>A (p.Gln316=)
n.651G>A
c.816G>A (p.Gln272=)
c.557-2562G>A (n.557-2562G>A)
n.283-8070G>A
c.29G>A
c.801G>A (p.Gln267=)
COSMIC COSMIC
15g.67184803G>CCA392957048SMAD3c.363G>C (p.Gln121His)
c.633G>C (p.Gln211His)
c.948G>C (p.Gln316His)
n.651G>C
c.816G>C (p.Gln272His)
c.557-2562G>C (n.557-2562G>C)
n.283-8070G>C
c.29G>C
c.801G>C (p.Gln267His)
15g.67184803G>TCA392957050SMAD3c.363G>T (p.Gln121His)
c.633G>T (p.Gln211His)
c.948G>T (p.Gln316His)
n.651G>T
c.816G>T (p.Gln272His)
c.557-2562G>T (n.557-2562G>T)
n.283-8070G>T
c.29G>T
c.801G>T (p.Gln267His)
15g.67184804T>ACA392957054SMAD3c.364T>A (p.Ser122Thr)
c.634T>A (p.Ser212Thr)
c.949T>A (p.Ser317Thr)
n.652T>A
c.817T>A (p.Ser273Thr)
c.557-2561T>A (n.557-2561T>A)
n.283-8069T>A
c.30T>A
c.802T>A (p.Ser268Thr)
15g.67184804T>CCA392957055SMAD3c.364T>C (p.Ser122Pro)
c.634T>C (p.Ser212Pro)
c.949T>C (p.Ser317Pro)
n.652T>C
c.817T>C (p.Ser273Pro)
c.557-2561T>C (n.557-2561T>C)
n.283-8069T>C
c.30T>C
c.802T>C (p.Ser268Pro)
15g.67184804T>GCA392957057SMAD3c.364T>G (p.Ser122Ala)
c.634T>G (p.Ser212Ala)
c.949T>G (p.Ser317Ala)
n.652T>G
c.817T>G (p.Ser273Ala)
c.557-2561T>G (n.557-2561T>G)
n.283-8069T>G
c.30T>G
c.802T>G (p.Ser268Ala)
gnomAD v4
15g.67184805C>ACA392957060SMAD3c.365C>A (p.Ser122Tyr)
c.635C>A (p.Ser212Tyr)
c.950C>A (p.Ser317Tyr)
n.653C>A
c.818C>A (p.Ser273Tyr)
c.557-2560C>A (n.557-2560C>A)
n.283-8068C>A
c.31C>A
c.803C>A (p.Ser268Tyr)
15g.67184805C>GCA392957065SMAD3c.365C>G (p.Ser122Cys)
c.635C>G (p.Ser212Cys)
c.950C>G (p.Ser317Cys)
n.653C>G
c.818C>G (p.Ser273Cys)
c.557-2560C>G (n.557-2560C>G)
n.283-8068C>G
c.31C>G
c.803C>G (p.Ser268Cys)
COSMIC COSMIC
15g.67184805C>TCA392957063SMAD3c.365C>T (p.Ser122Phe)
c.635C>T (p.Ser212Phe)
c.950C>T (p.Ser317Phe)
n.653C>T
c.818C>T (p.Ser273Phe)
c.557-2560C>T (n.557-2560C>T)
n.283-8068C>T
c.31C>T
c.803C>T (p.Ser268Phe)
15g.67184806T>ACA490916553SMAD3c.366T>A (p.Ser122=)
c.636T>A (p.Ser212=)
c.951T>A (p.Ser317=)
n.654T>A
c.819T>A (p.Ser273=)
c.557-2559T>A (n.557-2559T>A)
n.283-8067T>A
c.32T>A
c.804T>A (p.Ser268=)
15g.67184806T>CCA490916552SMAD3c.366T>C (p.Ser122=)
c.636T>C (p.Ser212=)
c.951T>C (p.Ser317=)
n.654T>C
c.819T>C (p.Ser273=)
c.557-2559T>C (n.557-2559T>C)
n.283-8067T>C
c.32T>C
c.804T>C (p.Ser268=)
gnomAD v4
15g.67184806T>GCA490916551SMAD3c.366T>G (p.Ser122=)
c.636T>G (p.Ser212=)
c.951T>G (p.Ser317=)
n.654T>G
c.819T>G (p.Ser273=)
c.557-2559T>G (n.557-2559T>G)
n.283-8067T>G
c.32T>G
c.804T>G (p.Ser268=)
15g.67184807C>ACA392957067SMAD3c.367C>A (p.Pro123Thr)
c.637C>A (p.Pro213Thr)
c.952C>A (p.Pro318Thr)
n.655C>A
c.820C>A (p.Pro274Thr)
c.557-2558C>A (n.557-2558C>A)
n.283-8066C>A
c.33C>A
c.805C>A (p.Pro269Thr)
15g.67184807C>GCA392957070SMAD3c.367C>G (p.Pro123Ala)
c.637C>G (p.Pro213Ala)
c.952C>G (p.Pro318Ala)
n.655C>G
c.820C>G (p.Pro274Ala)
c.557-2558C>G (n.557-2558C>G)
n.283-8066C>G
c.33C>G
c.805C>G (p.Pro269Ala)
15g.67184807C>TCA392957072SMAD3c.367C>T (p.Pro123Ser)
c.637C>T (p.Pro213Ser)
c.952C>T (p.Pro318Ser)
n.655C>T
c.820C>T (p.Pro274Ser)
c.557-2558C>T (n.557-2558C>T)
n.283-8066C>T
c.33C>T
c.805C>T (p.Pro269Ser)
15g.67184808C>ACA392957075SMAD3c.368C>A (p.Pro123His)
c.638C>A (p.Pro213His)
c.953C>A (p.Pro318His)
n.656C>A
c.821C>A (p.Pro274His)
c.557-2557C>A (n.557-2557C>A)
n.283-8065C>A
c.34C>A
c.806C>A (p.Pro269His)
15g.67184808C>GCA392957077SMAD3c.368C>G (p.Pro123Arg)
c.638C>G (p.Pro213Arg)
c.953C>G (p.Pro318Arg)
n.656C>G
c.821C>G (p.Pro274Arg)
c.557-2557C>G (n.557-2557C>G)
n.283-8065C>G
c.34C>G
c.806C>G (p.Pro269Arg)
15g.67184808C>TCA392957080SMAD3c.368C>T (p.Pro123Leu)
c.638C>T (p.Pro213Leu)
c.953C>T (p.Pro318Leu)
n.656C>T
c.821C>T (p.Pro274Leu)
c.557-2557C>T (n.557-2557C>T)
n.283-8065C>T
c.34C>T
c.806C>T (p.Pro269Leu)
15g.67184809C>ACA490916557SMAD3c.369C>A (p.Pro123=)
c.639C>A (p.Pro213=)
c.954C>A (p.Pro318=)
n.657C>A
c.822C>A (p.Pro274=)
c.557-2556C>A (n.557-2556C>A)
n.283-8064C>A
c.35C>A
c.807C>A (p.Pro269=)
dbSNP
15g.67184809C>GCA490916559SMAD3c.369C>G (p.Pro123=)
c.639C>G (p.Pro213=)
c.954C>G (p.Pro318=)
n.657C>G
c.822C>G (p.Pro274=)
c.557-2556C>G (n.557-2556C>G)
n.283-8064C>G
c.35C>G
c.807C>G (p.Pro269=)
15g.67184809C>TCA490916558SMAD3c.369C>T (p.Pro123=)
c.639C>T (p.Pro213=)
c.954C>T (p.Pro318=)
n.657C>T
c.822C>T (p.Pro274=)
c.557-2556C>T (n.557-2556C>T)
n.283-8064C>T
c.35C>T
c.807C>T (p.Pro269=)
15g.67184810A=CA2184419316SMAD3c.370A= (p.Asn124=)
c.640A= (p.Asn214=)
c.955A= (p.Asn319=)
n.658A=
c.823A= (p.Asn275=)
c.557-2555A= (n.557-2555A=)
n.283-8063A=
c.36A=
c.808A= (p.Asn270=)
15g.67184810A>CCA392957082SMAD3c.370A>C (p.Asn124His)
c.640A>C (p.Asn214His)
c.955A>C (p.Asn319His)
n.658A>C
c.823A>C (p.Asn275His)
c.557-2555A>C (n.557-2555A>C)
n.283-8063A>C
c.36A>C
c.808A>C (p.Asn270His)
15g.67184810A>GCA392957085SMAD3c.370A>G (p.Asn124Asp)
c.640A>G (p.Asn214Asp)
c.955A>G (p.Asn319Asp)
n.658A>G
c.823A>G (p.Asn275Asp)
c.557-2555A>G (n.557-2555A>G)
n.283-8063A>G
c.36A>G
c.808A>G (p.Asn270Asp)
ClinVar dbSNP
15g.67184810A>TCA392957087SMAD3c.370A>T (p.Asn124Tyr)
c.640A>T (p.Asn214Tyr)
c.955A>T (p.Asn319Tyr)
n.658A>T
c.823A>T (p.Asn275Tyr)
c.557-2555A>T (n.557-2555A>T)
n.283-8063A>T
c.36A>T
c.808A>T (p.Asn270Tyr)
15g.67184811A=CA2184419324SMAD3c.371A= (p.Asn124=)
c.641A= (p.Asn214=)
c.956A= (p.Asn319=)
n.659A=
c.824A= (p.Asn275=)
c.557-2554A= (n.557-2554A=)
n.283-8062A=
c.37A=
c.809A= (p.Asn270=)
15g.67184811A>CCA392957090SMAD3c.371A>C (p.Asn124Thr)
c.641A>C (p.Asn214Thr)
c.956A>C (p.Asn319Thr)
n.659A>C
c.824A>C (p.Asn275Thr)
c.557-2554A>C (n.557-2554A>C)
n.283-8062A>C
c.37A>C
c.809A>C (p.Asn270Thr)
15g.67184811A>GCA16607848SMAD3c.371A>G (p.Asn124Ser)
c.641A>G (p.Asn214Ser)
c.956A>G (p.Asn319Ser)
n.659A>G
c.824A>G (p.Asn275Ser)
c.557-2554A>G (n.557-2554A>G)
n.283-8062A>G
c.37A>G
c.809A>G (p.Asn270Ser)
ClinVar dbSNP
15g.67184811A>TCA392957093SMAD3c.371A>T (p.Asn124Ile)
c.641A>T (p.Asn214Ile)
c.956A>T (p.Asn319Ile)
n.659A>T
c.824A>T (p.Asn275Ile)
c.557-2554A>T (n.557-2554A>T)
n.283-8062A>T
c.37A>T
c.809A>T (p.Asn270Ile)
15g.67184812C>ACA392957098SMAD3c.372C>A (p.Asn124Lys)
c.642C>A (p.Asn214Lys)
c.957C>A (p.Asn319Lys)
n.660C>A
c.825C>A (p.Asn275Lys)
c.557-2553C>A (n.557-2553C>A)
n.283-8061C>A
c.38C>A
c.810C>A (p.Asn270Lys)
15g.67184812C=CA2184419329SMAD3c.372C= (p.Asn124=)
c.642C= (p.Asn214=)
c.957C= (p.Asn319=)
n.660C=
c.825C= (p.Asn275=)
c.557-2553C= (n.557-2553C=)
n.283-8061C=
c.38C=
c.810C= (p.Asn270=)
15g.67184812C>GCA392957096SMAD3c.372C>G (p.Asn124Lys)
c.642C>G (p.Asn214Lys)
c.957C>G (p.Asn319Lys)
n.660C>G
c.825C>G (p.Asn275Lys)
c.557-2553C>G (n.557-2553C>G)
n.283-8061C>G
c.38C>G
c.810C>G (p.Asn270Lys)
15g.67184812C>TCA490916561SMAD3c.372C>T (p.Asn124=)
c.642C>T (p.Asn214=)
c.957C>T (p.Asn319=)
n.660C>T
c.825C>T (p.Asn275=)
c.557-2553C>T (n.557-2553C>T)
n.283-8061C>T
c.38C>T
c.810C>T (p.Asn270=)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.67184812_67184814delinsCTGCA2184419331SMAD3c.372_374delinsCTG (p.Asn124=)
c.642_644delinsCTG (p.Asn214=)
c.957_959delinsCTG (p.Asn319=)
n.660_662delinsCTG
c.825_827delinsCTG (p.Asn275=)
c.557-2553_557-2551delinsCTG (n.557-2553_557-2551delinsCTG)
n.283-8061_283-8059delinsCTG
c.38_40delinsCTG
c.810_812delinsCTG (p.Asn270=)
15g.67184813T>ACA392957100SMAD3c.373T>A (p.Cys125Ser)
c.643T>A (p.Cys215Ser)
c.958T>A (p.Cys320Ser)
n.661T>A
c.826T>A (p.Cys276Ser)
c.557-2552T>A (n.557-2552T>A)
n.283-8060T>A
c.39T>A
c.811T>A (p.Cys271Ser)
dbSNP gnomAD v3 gnomAD v4
15g.67184813T>CCA392957104SMAD3c.373T>C (p.Cys125Arg)
c.643T>C (p.Cys215Arg)
c.958T>C (p.Cys320Arg)
n.661T>C
c.826T>C (p.Cys276Arg)
c.557-2552T>C (n.557-2552T>C)
n.283-8060T>C
c.39T>C
c.811T>C (p.Cys271Arg)
15g.67184813T>GCA392957103SMAD3c.373T>G (p.Cys125Gly)
c.643T>G (p.Cys215Gly)
c.958T>G (p.Cys320Gly)
n.661T>G
c.826T>G (p.Cys276Gly)
c.557-2552T>G (n.557-2552T>G)
n.283-8060T>G
c.39T>G
c.811T>G (p.Cys271Gly)
15g.67184813T=CA2184419333SMAD3c.373T= (p.Cys125=)
c.643T= (p.Cys215=)
c.958T= (p.Cys320=)
n.661T=
c.826T= (p.Cys276=)
c.557-2552T= (n.557-2552T=)
n.283-8060T=
c.39T=
c.811T= (p.Cys271=)
15g.67184814_67184815delCA970998479SMAD3c.374_375del (p.Cys125Ter)
c.644_645del (p.Cys215Ter)
c.959_960del (p.Cys320Ter)
n.662_663del
c.827_828del (p.Cys276Ter)
c.557-2551_557-2550del (n.557-2551_557-2550del)
n.283-8059_283-8058del
c.40_41del
c.812_813del (p.Cys271Ter)
dbSNP gnomAD v3 gnomAD v4
15g.67184814G>ACA392957108SMAD3c.374G>A (p.Cys125Tyr)
c.644G>A (p.Cys215Tyr)
c.959G>A (p.Cys320Tyr)
n.662G>A
c.827G>A (p.Cys276Tyr)
c.557-2551G>A (n.557-2551G>A)
n.283-8059G>A
c.40G>A
c.812G>A (p.Cys271Tyr)
dbSNP
15g.67184814G>CCA392957110SMAD3c.374G>C (p.Cys125Ser)
c.644G>C (p.Cys215Ser)
c.959G>C (p.Cys320Ser)
n.662G>C
c.827G>C (p.Cys276Ser)
c.557-2551G>C (n.557-2551G>C)
n.283-8059G>C
c.40G>C
c.812G>C (p.Cys271Ser)
15g.67184814G>TCA392957112SMAD3c.374G>T (p.Cys125Phe)
c.644G>T (p.Cys215Phe)
c.959G>T (p.Cys320Phe)
n.662G>T
c.827G>T (p.Cys276Phe)
c.557-2551G>T (n.557-2551G>T)
n.283-8059G>T
c.40G>T
c.812G>T (p.Cys271Phe)
15g.67184814_67184827delinsGTAACCAGCGCTATCA2184419337SMAD3c.374_387delinsGTAACCAGCGCTAT (p.Cys125=)
c.644_657delinsGTAACCAGCGCTAT (p.Cys215=)
c.959_972delinsGTAACCAGCGCTAT (p.Cys320=)
n.662_675delinsGTAACCAGCGCTAT
c.827_840delinsGTAACCAGCGCTAT (p.Cys276=)
c.557-2551_557-2538delinsGTAACCAGCGCTAT (n.557-2551_557-2538delinsGTAACCAGCGCTAT)
n.283-8059_283-8046delinsGTAACCAGCGCTAT
c.40_53delinsGTAACCAGCGCTAT
c.812_825delinsGTAACCAGCGCTAT (p.Cys271=)
15g.67184815T>ACA392957114SMAD3c.375T>A (p.Cys125Ter)
c.645T>A (p.Cys215Ter)
c.960T>A (p.Cys320Ter)
n.663T>A
c.828T>A (p.Cys276Ter)
c.557-2550T>A (n.557-2550T>A)
n.283-8058T>A
c.41T>A
c.813T>A (p.Cys271Ter)
15g.67184815T>CCA490916566SMAD3c.375T>C (p.Cys125=)
c.645T>C (p.Cys215=)
c.960T>C (p.Cys320=)
n.663T>C
c.828T>C (p.Cys276=)
c.557-2550T>C (n.557-2550T>C)
n.283-8058T>C
c.41T>C
c.813T>C (p.Cys271=)
15g.67184815T>GCA392957116SMAD3c.375T>G (p.Cys125Trp)
c.645T>G (p.Cys215Trp)
c.960T>G (p.Cys320Trp)
n.663T>G
c.828T>G (p.Cys276Trp)
c.557-2550T>G (n.557-2550T>G)
n.283-8058T>G
c.41T>G
c.813T>G (p.Cys271Trp)
15g.67184815_67184827delinsGACACCCA891843529SMAD3c.375_387delinsGACACC (p.Cys125TrpfsTer19)
c.645_657delinsGACACC (p.Cys215TrpfsTer19)
c.960_972delinsGACACC (p.Cys320TrpfsTer?)
c.960_972delinsGACACC (p.Cys320TrpfsTer19)
n.663_675delinsGACACC
c.828_840delinsGACACC (p.Cys276TrpfsTer19)
c.557-2550_557-2538delinsGACACC (n.557-2550_557-2538delinsGACACC)
n.283-8058_283-8046delinsGACACC
c.41_53delinsGACACC
c.813_825delinsGACACC (p.Cys271TrpfsTer19)
ClinVar dbSNP

Number of alleles fetched