Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.67181285A=CA2184414559SMAD3c.118A= (p.Ile40=)
c.388A= (p.Ile130=)
c.703A= (p.Ile235=)
n.406A=
c.571A= (p.Ile191=)
n.282+6701A=
c.556A= (p.Ile186=)
15g.67181285A>CCA392955966SMAD3c.118A>C (p.Ile40Leu)
c.388A>C (p.Ile130Leu)
c.703A>C (p.Ile235Leu)
n.406A>C
c.571A>C (p.Ile191Leu)
n.282+6701A>C
c.556A>C (p.Ile186Leu)
15g.67181285A>GCA392955968SMAD3c.118A>G (p.Ile40Val)
c.388A>G (p.Ile130Val)
c.703A>G (p.Ile235Val)
n.406A>G
c.571A>G (p.Ile191Val)
n.282+6701A>G
c.556A>G (p.Ile186Val)
 dbSNP gnomAD v4
15g.67181285A>TCA392955969SMAD3c.118A>T (p.Ile40Phe)
c.388A>T (p.Ile130Phe)
c.703A>T (p.Ile235Phe)
n.406A>T
c.571A>T (p.Ile191Phe)
n.282+6701A>T
c.556A>T (p.Ile186Phe)
15g.67181286T>ACA392955971SMAD3c.119T>A (p.Ile40Asn)
c.389T>A (p.Ile130Asn)
c.704T>A (p.Ile235Asn)
n.407T>A
c.572T>A (p.Ile191Asn)
n.282+6702T>A
c.557T>A (p.Ile186Asn)
15g.67181286T>CCA392955974SMAD3c.119T>C (p.Ile40Thr)
c.389T>C (p.Ile130Thr)
c.704T>C (p.Ile235Thr)
n.407T>C
c.572T>C (p.Ile191Thr)
n.282+6702T>C
c.557T>C (p.Ile186Thr)
15g.67181286T>GCA392955973SMAD3c.119T>G (p.Ile40Ser)
c.389T>G (p.Ile130Ser)
c.704T>G (p.Ile235Ser)
n.407T>G
c.572T>G (p.Ile191Ser)
n.282+6702T>G
c.557T>G (p.Ile186Ser)
15g.67181287C>ACA490914522SMAD3c.120C>A (p.Ile40=)
c.390C>A (p.Ile130=)
c.705C>A (p.Ile235=)
n.408C>A
c.573C>A (p.Ile191=)
n.282+6703C>A
c.558C>A (p.Ile186=)
15g.67181287C>GCA392955976SMAD3c.120C>G (p.Ile40Met)
c.390C>G (p.Ile130Met)
c.705C>G (p.Ile235Met)
n.408C>G
c.573C>G (p.Ile191Met)
n.282+6703C>G
c.558C>G (p.Ile186Met)
 dbSNP
15g.67181287C>TCA490914529SMAD3c.120C>T (p.Ile40=)
c.390C>T (p.Ile130=)
c.705C>T (p.Ile235=)
n.408C>T
c.573C>T (p.Ile191=)
n.282+6703C>T
c.558C>T (p.Ile186=)
15g.67181288T>ACA392955979SMAD3c.121T>A (p.Ser41Thr)
c.391T>A (p.Ser131Thr)
c.706T>A (p.Ser236Thr)
n.409T>A
c.574T>A (p.Ser192Thr)
n.282+6704T>A
c.559T>A (p.Ser187Thr)
15g.67181288T>CCA392955980SMAD3c.121T>C (p.Ser41Pro)
c.391T>C (p.Ser131Pro)
c.706T>C (p.Ser236Pro)
n.409T>C
c.574T>C (p.Ser192Pro)
n.282+6704T>C
c.559T>C (p.Ser187Pro)
15g.67181288T>GCA392955981SMAD3c.121T>G (p.Ser41Ala)
c.391T>G (p.Ser131Ala)
c.706T>G (p.Ser236Ala)
n.409T>G
c.574T>G (p.Ser192Ala)
n.282+6704T>G
c.559T>G (p.Ser187Ala)
15g.67181289C>ACA392955984SMAD3c.122C>A (p.Ser41Tyr)
c.392C>A (p.Ser131Tyr)
c.707C>A (p.Ser236Tyr)
n.410C>A
c.575C>A (p.Ser192Tyr)
n.282+6705C>A
c.560C>A (p.Ser187Tyr)
15g.67181289C=CA2184414564SMAD3c.122C= (p.Ser41=)
c.392C= (p.Ser131=)
c.707C= (p.Ser236=)
n.410C=
c.575C= (p.Ser192=)
n.282+6705C=
c.560C= (p.Ser187=)
15g.67181289C>GCA392955986SMAD3c.122C>G (p.Ser41Cys)
c.392C>G (p.Ser131Cys)
c.707C>G (p.Ser236Cys)
n.410C>G
c.575C>G (p.Ser192Cys)
n.282+6705C>G
c.560C>G (p.Ser187Cys)
15g.67181289C>TCA392955987SMAD3c.122C>T (p.Ser41Phe)
c.392C>T (p.Ser131Phe)
c.707C>T (p.Ser236Phe)
n.410C>T
c.575C>T (p.Ser192Phe)
n.282+6705C>T
c.560C>T (p.Ser187Phe)
 ClinVar dbSNP
15g.67181289_67181292delinsCCTACA2184414566SMAD3c.122_125delinsCCTA (p.Ser41=)
c.392_395delinsCCTA (p.Ser131=)
c.707_710delinsCCTA (p.Ser236=)
n.410_413delinsCCTA
c.575_578delinsCCTA (p.Ser192=)
n.282+6705_282+6708delinsCCTA
c.560_563delinsCCTA (p.Ser187=)
15g.67181290C>ACA490914538SMAD3c.123C>A (p.Ser41=)
c.393C>A (p.Ser131=)
c.708C>A (p.Ser236=)
n.411C>A
c.576C>A (p.Ser192=)
n.282+6706C>A
c.561C>A (p.Ser187=)
15g.67181290C=CA2184414569SMAD3c.123C= (p.Ser41=)
c.393C= (p.Ser131=)
c.708C= (p.Ser236=)
n.411C=
c.576C= (p.Ser192=)
n.282+6706C=
c.561C= (p.Ser187=)
15g.67181290C>GCA490914547SMAD3c.123C>G (p.Ser41=)
c.393C>G (p.Ser131=)
c.708C>G (p.Ser236=)
n.411C>G
c.576C>G (p.Ser192=)
n.282+6706C>G
c.561C>G (p.Ser187=)
15g.67181290C>TCA062594SMAD3c.123C>T (p.Ser41=)
c.393C>T (p.Ser131=)
c.708C>T (p.Ser236=)
n.411C>T
c.576C>T (p.Ser192=)
n.282+6706C>T
c.561C>T (p.Ser187=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.67181294_67181296delCA323607SMAD3c.127_129del (p.Tyr43del)
c.397_399del (p.Tyr133del)
c.712_714del (p.Tyr238del)
n.415_417del
c.580_582del (p.Tyr194del)
n.282+6710_282+6712del
c.565_567del (p.Tyr189del)
 ClinVar dbSNP
15g.67181291T>ACA392955990SMAD3c.124T>A (p.Tyr42Asn)
c.394T>A (p.Tyr132Asn)
c.709T>A (p.Tyr237Asn)
n.412T>A
c.577T>A (p.Tyr193Asn)
n.282+6707T>A
c.562T>A (p.Tyr188Asn)
15g.67181291T>CCA392955992SMAD3c.124T>C (p.Tyr42His)
c.394T>C (p.Tyr132His)
c.709T>C (p.Tyr237His)
n.412T>C
c.577T>C (p.Tyr193His)
n.282+6707T>C
c.562T>C (p.Tyr188His)
15g.67181291T>GCA392955994SMAD3c.124T>G (p.Tyr42Asp)
c.394T>G (p.Tyr132Asp)
c.709T>G (p.Tyr237Asp)
n.412T>G
c.577T>G (p.Tyr193Asp)
n.282+6707T>G
c.562T>G (p.Tyr188Asp)
15g.67181292A>CCA392955995SMAD3c.125A>C (p.Tyr42Ser)
c.395A>C (p.Tyr132Ser)
c.710A>C (p.Tyr237Ser)
n.413A>C
c.578A>C (p.Tyr193Ser)
n.282+6708A>C
c.563A>C (p.Tyr188Ser)
15g.67181292A>GCA392955996SMAD3c.125A>G (p.Tyr42Cys)
c.395A>G (p.Tyr132Cys)
c.710A>G (p.Tyr237Cys)
n.413A>G
c.578A>G (p.Tyr193Cys)
n.282+6708A>G
c.563A>G (p.Tyr188Cys)
 COSMIC
15g.67181292A>TCA392955998SMAD3c.125A>T (p.Tyr42Phe)
c.395A>T (p.Tyr132Phe)
c.710A>T (p.Tyr237Phe)
n.413A>T
c.578A>T (p.Tyr193Phe)
n.282+6708A>T
c.563A>T (p.Tyr188Phe)
15g.67181293C>ACA392956001SMAD3c.126C>A (p.Tyr42Ter)
c.396C>A (p.Tyr132Ter)
c.711C>A (p.Tyr237Ter)
n.414C>A
c.579C>A (p.Tyr193Ter)
n.282+6709C>A
c.564C>A (p.Tyr188Ter)
15g.67181293C>GCA392956000SMAD3c.126C>G (p.Tyr42Ter)
c.396C>G (p.Tyr132Ter)
c.711C>G (p.Tyr237Ter)
n.414C>G
c.579C>G (p.Tyr193Ter)
n.282+6709C>G
c.564C>G (p.Tyr188Ter)
15g.67181293C>TCA490914556SMAD3c.126C>T (p.Tyr42=)
c.396C>T (p.Tyr132=)
c.711C>T (p.Tyr237=)
n.414C>T
c.579C>T (p.Tyr193=)
n.282+6709C>T
c.564C>T (p.Tyr188=)
 ClinVar dbSNP
15g.67181294T>ACA392956003SMAD3c.127T>A (p.Tyr43Asn)
c.397T>A (p.Tyr133Asn)
c.712T>A (p.Tyr238Asn)
n.415T>A
c.580T>A (p.Tyr194Asn)
n.282+6710T>A
c.565T>A (p.Tyr189Asn)
15g.67181294T>CCA392956004SMAD3c.127T>C (p.Tyr43His)
c.397T>C (p.Tyr133His)
c.712T>C (p.Tyr238His)
n.415T>C
c.580T>C (p.Tyr194His)
n.282+6710T>C
c.565T>C (p.Tyr189His)
15g.67181294T>GCA392956006SMAD3c.127T>G (p.Tyr43Asp)
c.397T>G (p.Tyr133Asp)
c.712T>G (p.Tyr238Asp)
n.415T>G
c.580T>G (p.Tyr194Asp)
n.282+6710T>G
c.565T>G (p.Tyr189Asp)
15g.67181295A>CCA392956008SMAD3c.128A>C (p.Tyr43Ser)
c.398A>C (p.Tyr133Ser)
c.713A>C (p.Tyr238Ser)
n.416A>C
c.581A>C (p.Tyr194Ser)
n.282+6711A>C
c.566A>C (p.Tyr189Ser)
15g.67181295A>GCA392956010SMAD3c.128A>G (p.Tyr43Cys)
c.398A>G (p.Tyr133Cys)
c.713A>G (p.Tyr238Cys)
n.416A>G
c.581A>G (p.Tyr194Cys)
n.282+6711A>G
c.566A>G (p.Tyr189Cys)
15g.67181295A>TCA392956011SMAD3c.128A>T (p.Tyr43Phe)
c.398A>T (p.Tyr133Phe)
c.713A>T (p.Tyr238Phe)
n.416A>T
c.581A>T (p.Tyr194Phe)
n.282+6711A>T
c.566A>T (p.Tyr189Phe)
15g.67181296C>ACA392956013SMAD3c.129C>A (p.Tyr43Ter)
c.399C>A (p.Tyr133Ter)
c.714C>A (p.Tyr238Ter)
n.417C>A
c.582C>A (p.Tyr194Ter)
n.282+6712C>A
c.567C>A (p.Tyr189Ter)
 ClinVar
15g.67181296C=CA2184414577SMAD3c.129C= (p.Tyr43=)
c.399C= (p.Tyr133=)
c.714C= (p.Tyr238=)
n.417C=
c.582C= (p.Tyr194=)
n.282+6712C=
c.567C= (p.Tyr189=)
15g.67181296C>GCA392956015SMAD3c.129C>G (p.Tyr43Ter)
c.399C>G (p.Tyr133Ter)
c.714C>G (p.Tyr238Ter)
n.417C>G
c.582C>G (p.Tyr194Ter)
n.282+6712C>G
c.567C>G (p.Tyr189Ter)
15g.67181296C>TCA062600SMAD3c.129C>T (p.Tyr43=)
c.399C>T (p.Tyr133=)
c.714C>T (p.Tyr238=)
n.417C>T
c.582C>T (p.Tyr194=)
n.282+6712C>T
c.567C>T (p.Tyr189=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.67181297G>ACA020100SMAD3c.130G>A (p.Glu44Lys)
c.400G>A (p.Glu134Lys)
c.715G>A (p.Glu239Lys)
n.418G>A
c.583G>A (p.Glu195Lys)
n.282+6713G>A
c.568G>A (p.Glu190Lys)
 ClinVar dbSNP COSMIC COSMIC
15g.67181297G>CCA392956019SMAD3c.130G>C (p.Glu44Gln)
c.400G>C (p.Glu134Gln)
c.715G>C (p.Glu239Gln)
n.418G>C
c.583G>C (p.Glu195Gln)
n.282+6713G>C
c.568G>C (p.Glu190Gln)
15g.67181297G=CA2184414586SMAD3c.130G= (p.Glu44=)
c.400G= (p.Glu134=)
c.715G= (p.Glu239=)
n.418G=
c.583G= (p.Glu195=)
n.282+6713G=
c.568G= (p.Glu190=)
15g.67181297G>TCA392956020SMAD3c.130G>T (p.Glu44Ter)
c.400G>T (p.Glu134Ter)
c.715G>T (p.Glu239Ter)
n.418G>T
c.583G>T (p.Glu195Ter)
n.282+6713G>T
c.568G>T (p.Glu190Ter)
 ClinVar dbSNP COSMIC COSMIC
15g.67181298A>CCA392956023SMAD3c.131A>C (p.Glu44Ala)
c.401A>C (p.Glu134Ala)
c.716A>C (p.Glu239Ala)
n.419A>C
c.584A>C (p.Glu195Ala)
n.282+6714A>C
c.569A>C (p.Glu190Ala)
15g.67181298A>GCA392956026SMAD3c.131A>G (p.Glu44Gly)
c.401A>G (p.Glu134Gly)
c.716A>G (p.Glu239Gly)
n.419A>G
c.584A>G (p.Glu195Gly)
n.282+6714A>G
c.569A>G (p.Glu190Gly)
15g.67181298A>TCA392956025SMAD3c.131A>T (p.Glu44Val)
c.401A>T (p.Glu134Val)
c.716A>T (p.Glu239Val)
n.419A>T
c.584A>T (p.Glu195Val)
n.282+6714A>T
c.569A>T (p.Glu190Val)
 COSMIC COSMIC
15g.67181298_67181305delinsTTCA2580613866SMAD3c.131_138delinsTT (p.Glu44_Asn46delinsVal)
c.401_408delinsTT (p.Glu134_Asn136delinsVal)
c.716_723delinsTT (p.Glu239_Asn241delinsVal)
n.419_426delinsTT
c.584_591delinsTT (p.Glu195_Asn197delinsVal)
n.282+6714_282+6721delinsTT
c.569_576delinsTT (p.Glu190_Asn192delinsVal)
 ClinVar
15g.67181299G>ACA490914572SMAD3c.132G>A (p.Glu44=)
c.402G>A (p.Glu134=)
c.717G>A (p.Glu239=)
n.420G>A
c.585G>A (p.Glu195=)
n.282+6715G>A
c.570G>A (p.Glu190=)
15g.67181299G>CCA392956028SMAD3c.132G>C (p.Glu44Asp)
c.402G>C (p.Glu134Asp)
c.717G>C (p.Glu239Asp)
n.420G>C
c.585G>C (p.Glu195Asp)
n.282+6715G>C
c.570G>C (p.Glu190Asp)
15g.67181299G>TCA392956030SMAD3c.132G>T (p.Glu44Asp)
c.402G>T (p.Glu134Asp)
c.717G>T (p.Glu239Asp)
n.420G>T
c.585G>T (p.Glu195Asp)
n.282+6715G>T
c.570G>T (p.Glu190Asp)
15g.67181300C>ACA392956032SMAD3c.133C>A (p.Leu45Met)
c.403C>A (p.Leu135Met)
c.718C>A (p.Leu240Met)
n.421C>A
c.586C>A (p.Leu196Met)
n.282+6716C>A
c.571C>A (p.Leu191Met)
15g.67181300C>GCA392956033SMAD3c.133C>G (p.Leu45Val)
c.403C>G (p.Leu135Val)
c.718C>G (p.Leu240Val)
n.421C>G
c.586C>G (p.Leu196Val)
n.282+6716C>G
c.571C>G (p.Leu191Val)
15g.67181300C>TCA490914582SMAD3c.133C>T (p.Leu45=)
c.403C>T (p.Leu135=)
c.718C>T (p.Leu240=)
n.421C>T
c.586C>T (p.Leu196=)
n.282+6716C>T
c.571C>T (p.Leu191=)
15g.67181300_67181324delinsCTGAACCAGCGCGTCGGGGAGACATCA2184414597SMAD3c.133_157delinsCTGAACCAGCGCGTCGGGGAGACAT (p.Leu45=)
c.403_427delinsCTGAACCAGCGCGTCGGGGAGACAT (p.Leu135=)
c.718_742delinsCTGAACCAGCGCGTCGGGGAGACAT (p.Leu240=)
n.421_445delinsCTGAACCAGCGCGTCGGGGAGACAT
c.586_610delinsCTGAACCAGCGCGTCGGGGAGACAT (p.Leu196=)
n.282+6716_282+6740delinsCTGAACCAGCGCGTCGGGGAGACAT
c.571_595delinsCTGAACCAGCGCGTCGGGGAGACAT (p.Leu191=)
15g.67181301T>ACA392956035SMAD3c.134T>A (p.Leu45Gln)
c.404T>A (p.Leu135Gln)
c.719T>A (p.Leu240Gln)
n.422T>A
c.587T>A (p.Leu196Gln)
n.282+6717T>A
c.572T>A (p.Leu191Gln)
 ClinVar
15g.67181301T>CCA392956037SMAD3c.134T>C (p.Leu45Pro)
c.404T>C (p.Leu135Pro)
c.719T>C (p.Leu240Pro)
n.422T>C
c.587T>C (p.Leu196Pro)
n.282+6717T>C
c.572T>C (p.Leu191Pro)
15g.67181301T>GCA392956039SMAD3c.134T>G (p.Leu45Arg)
c.404T>G (p.Leu135Arg)
c.719T>G (p.Leu240Arg)
n.422T>G
c.587T>G (p.Leu196Arg)
n.282+6717T>G
c.572T>G (p.Leu191Arg)
15g.67181302_67181325delCA913191080SMAD3c.135_158del (p.Asn46_Phe53del)
c.405_428del (p.Asn136_Phe143del)
c.720_743del (p.Asn241_Phe248del)
n.423_446del
c.588_611del (p.Asn197_Phe204del)
n.282+6718_282+6741del
c.573_596del (p.Asn192_Phe199del)
 ClinVar dbSNP
15g.67181302G>ACA490914590SMAD3c.135G>A (p.Leu45=)
c.405G>A (p.Leu135=)
c.720G>A (p.Leu240=)
n.423G>A
c.588G>A (p.Leu196=)
n.282+6718G>A
c.573G>A (p.Leu191=)
15g.67181302G>CCA490914591SMAD3c.135G>C (p.Leu45=)
c.405G>C (p.Leu135=)
c.720G>C (p.Leu240=)
n.423G>C
c.588G>C (p.Leu196=)
n.282+6718G>C
c.573G>C (p.Leu191=)
15g.67181302G>TCA490914592SMAD3c.135G>T (p.Leu45=)
c.405G>T (p.Leu135=)
c.720G>T (p.Leu240=)
n.423G>T
c.588G>T (p.Leu196=)
n.282+6718G>T
c.573G>T (p.Leu191=)
15g.67181303A>CCA392956040SMAD3c.136A>C (p.Asn46His)
c.406A>C (p.Asn136His)
c.721A>C (p.Asn241His)
n.424A>C
c.589A>C (p.Asn197His)
n.282+6719A>C
c.574A>C (p.Asn192His)
 ClinVar gnomAD v4
15g.67181303A>GCA392956042SMAD3c.136A>G (p.Asn46Asp)
c.406A>G (p.Asn136Asp)
c.721A>G (p.Asn241Asp)
n.424A>G
c.589A>G (p.Asn197Asp)
n.282+6719A>G
c.574A>G (p.Asn192Asp)
15g.67181303A>TCA392956044SMAD3c.136A>T (p.Asn46Tyr)
c.406A>T (p.Asn136Tyr)
c.721A>T (p.Asn241Tyr)
n.424A>T
c.589A>T (p.Asn197Tyr)
n.282+6719A>T
c.574A>T (p.Asn192Tyr)
15g.67181304A>CCA392956045SMAD3c.137A>C (p.Asn46Thr)
c.407A>C (p.Asn136Thr)
c.722A>C (p.Asn241Thr)
n.425A>C
c.590A>C (p.Asn197Thr)
n.282+6720A>C
c.575A>C (p.Asn192Thr)
 gnomAD v4
15g.67181304A>GCA392956047SMAD3c.137A>G (p.Asn46Ser)
c.407A>G (p.Asn136Ser)
c.722A>G (p.Asn241Ser)
n.425A>G
c.590A>G (p.Asn197Ser)
n.282+6720A>G
c.575A>G (p.Asn192Ser)
15g.67181304A>TCA392956049SMAD3c.137A>T (p.Asn46Ile)
c.407A>T (p.Asn136Ile)
c.722A>T (p.Asn241Ile)
n.425A>T
c.590A>T (p.Asn197Ile)
n.282+6720A>T
c.575A>T (p.Asn192Ile)
15g.67181305C>ACA392956051SMAD3c.138C>A (p.Asn46Lys)
c.408C>A (p.Asn136Lys)
c.723C>A (p.Asn241Lys)
n.426C>A
c.591C>A (p.Asn197Lys)
n.282+6721C>A
c.576C>A (p.Asn192Lys)
15g.67181305C=CA2184414604SMAD3c.138C= (p.Asn46=)
c.408C= (p.Asn136=)
c.723C= (p.Asn241=)
n.426C=
c.591C= (p.Asn197=)
n.282+6721C=
c.576C= (p.Asn192=)
15g.67181305C>GCA392956053SMAD3c.138C>G (p.Asn46Lys)
c.408C>G (p.Asn136Lys)
c.723C>G (p.Asn241Lys)
n.426C>G
c.591C>G (p.Asn197Lys)
n.282+6721C>G
c.576C>G (p.Asn192Lys)
 dbSNP gnomAD v2 gnomAD v4
15g.67181305C>TCA062604SMAD3c.138C>T (p.Asn46=)
c.408C>T (p.Asn136=)
c.723C>T (p.Asn241=)
n.426C>T
c.591C>T (p.Asn197=)
n.282+6721C>T
c.576C>T (p.Asn192=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.67181306C>ACA392956055SMAD3c.139C>A (p.Gln47Lys)
c.409C>A (p.Gln137Lys)
c.724C>A (p.Gln242Lys)
n.427C>A
c.592C>A (p.Gln198Lys)
n.282+6722C>A
c.577C>A (p.Gln193Lys)
15g.67181306C>GCA392956057SMAD3c.139C>G (p.Gln47Glu)
c.409C>G (p.Gln137Glu)
c.724C>G (p.Gln242Glu)
n.427C>G
c.592C>G (p.Gln198Glu)
n.282+6722C>G
c.577C>G (p.Gln193Glu)
15g.67181306C>TCA392956059SMAD3c.139C>T (p.Gln47Ter)
c.409C>T (p.Gln137Ter)
c.724C>T (p.Gln242Ter)
n.427C>T
c.592C>T (p.Gln198Ter)
n.282+6722C>T
c.577C>T (p.Gln193Ter)
15g.67181307A=CA2184414610SMAD3c.140A= (p.Gln47=)
c.410A= (p.Gln137=)
c.725A= (p.Gln242=)
n.428A=
c.593A= (p.Gln198=)
n.282+6723A=
c.578A= (p.Gln193=)
15g.67181307A>CCA392956061SMAD3c.140A>C (p.Gln47Pro)
c.410A>C (p.Gln137Pro)
c.725A>C (p.Gln242Pro)
n.428A>C
c.593A>C (p.Gln198Pro)
n.282+6723A>C
c.578A>C (p.Gln193Pro)
15g.67181307A>GCA392956062SMAD3c.140A>G (p.Gln47Arg)
c.410A>G (p.Gln137Arg)
c.725A>G (p.Gln242Arg)
n.428A>G
c.593A>G (p.Gln198Arg)
n.282+6723A>G
c.578A>G (p.Gln193Arg)
15g.67181307A>TCA062610SMAD3c.140A>T (p.Gln47Leu)
c.410A>T (p.Gln137Leu)
c.725A>T (p.Gln242Leu)
n.428A>T
c.593A>T (p.Gln198Leu)
n.282+6723A>T
c.578A>T (p.Gln193Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.67181308G>ACA490914614SMAD3c.141G>A (p.Gln47=)
c.411G>A (p.Gln137=)
c.726G>A (p.Gln242=)
n.429G>A
c.594G>A (p.Gln198=)
n.282+6724G>A
c.579G>A (p.Gln193=)
15g.67181308G>CCA392956065SMAD3c.141G>C (p.Gln47His)
c.411G>C (p.Gln137His)
c.726G>C (p.Gln242His)
n.429G>C
c.594G>C (p.Gln198His)
n.282+6724G>C
c.579G>C (p.Gln193His)
15g.67181308G>TCA392956067SMAD3c.141G>T (p.Gln47His)
c.411G>T (p.Gln137His)
c.726G>T (p.Gln242His)
n.429G>T
c.594G>T (p.Gln198His)
n.282+6724G>T
c.579G>T (p.Gln193His)
15g.67181309C>ACA392956069SMAD3c.142C>A (p.Arg48Ser)
c.412C>A (p.Arg138Ser)
c.727C>A (p.Arg243Ser)
n.430C>A
c.595C>A (p.Arg199Ser)
n.282+6725C>A
c.580C>A (p.Arg194Ser)
 gnomAD v4
15g.67181309C=CA2184414614SMAD3c.142C= (p.Arg48=)
c.412C= (p.Arg138=)
c.727C= (p.Arg243=)
n.430C=
c.595C= (p.Arg199=)
n.282+6725C=
c.580C= (p.Arg194=)
15g.67181309C>GCA392956071SMAD3c.142C>G (p.Arg48Gly)
c.412C>G (p.Arg138Gly)
c.727C>G (p.Arg243Gly)
n.430C>G
c.595C>G (p.Arg199Gly)
n.282+6725C>G
c.580C>G (p.Arg194Gly)
 ClinVar dbSNP
15g.67181309C>TCA10587874SMAD3c.142C>T (p.Arg48Cys)
c.412C>T (p.Arg138Cys)
c.727C>T (p.Arg243Cys)
n.430C>T
c.595C>T (p.Arg199Cys)
n.282+6725C>T
c.580C>T (p.Arg194Cys)
 ClinVar dbSNP
15g.67181310G>ACA321332SMAD3c.143G>A (p.Arg48His)
c.413G>A (p.Arg138His)
c.728G>A (p.Arg243His)
n.431G>A
c.596G>A (p.Arg199His)
n.282+6726G>A
c.581G>A (p.Arg194His)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
15g.67181310G>CCA392956077SMAD3c.143G>C (p.Arg48Pro)
c.413G>C (p.Arg138Pro)
c.728G>C (p.Arg243Pro)
n.431G>C
c.596G>C (p.Arg199Pro)
n.282+6726G>C
c.581G>C (p.Arg194Pro)
 ClinVar dbSNP
15g.67181310G=CA2184414619SMAD3c.143G= (p.Arg48=)
c.413G= (p.Arg138=)
c.728G= (p.Arg243=)
n.431G=
c.596G= (p.Arg199=)
n.282+6726G=
c.581G= (p.Arg194=)
15g.67181310G>TCA392956075SMAD3c.143G>T (p.Arg48Leu)
c.413G>T (p.Arg138Leu)
c.728G>T (p.Arg243Leu)
n.431G>T
c.596G>T (p.Arg199Leu)
n.282+6726G>T
c.581G>T (p.Arg194Leu)
15g.67181311C>ACA490914639SMAD3c.144C>A (p.Arg48=)
c.414C>A (p.Arg138=)
c.729C>A (p.Arg243=)
n.432C>A
c.597C>A (p.Arg199=)
n.282+6727C>A
c.582C>A (p.Arg194=)
 ClinVar
15g.67181311C=CA2184414628SMAD3c.144C= (p.Arg48=)
c.414C= (p.Arg138=)
c.729C= (p.Arg243=)
n.432C=
c.597C= (p.Arg199=)
n.282+6727C=
c.582C= (p.Arg194=)
15g.67181311C>GCA490914640SMAD3c.144C>G (p.Arg48=)
c.414C>G (p.Arg138=)
c.729C>G (p.Arg243=)
n.432C>G
c.597C>G (p.Arg199=)
n.282+6727C>G
c.582C>G (p.Arg194=)
15g.67181311C>TCA062615SMAD3c.144C>T (p.Arg48=)
c.414C>T (p.Arg138=)
c.729C>T (p.Arg243=)
n.432C>T
c.597C>T (p.Arg199=)
n.282+6727C>T
c.582C>T (p.Arg194=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.67181312G>ACA062623SMAD3c.145G>A (p.Val49Ile)
c.415G>A (p.Val139Ile)
c.730G>A (p.Val244Ile)
n.433G>A
c.598G>A (p.Val200Ile)
n.282+6728G>A
c.583G>A (p.Val195Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
15g.67181312G>CCA392956082SMAD3c.145G>C (p.Val49Leu)
c.415G>C (p.Val139Leu)
c.730G>C (p.Val244Leu)
n.433G>C
c.598G>C (p.Val200Leu)
n.282+6728G>C
c.583G>C (p.Val195Leu)
15g.67181312G=CA2184414637SMAD3c.145G= (p.Val49=)
c.415G= (p.Val139=)
c.730G= (p.Val244=)
n.433G=
c.598G= (p.Val200=)
n.282+6728G=
c.583G= (p.Val195=)
15g.67181312G>TCA392956080SMAD3c.145G>T (p.Val49Phe)
c.415G>T (p.Val139Phe)
c.730G>T (p.Val244Phe)
n.433G>T
c.598G>T (p.Val200Phe)
n.282+6728G>T
c.583G>T (p.Val195Phe)
 ClinVar dbSNP
15g.67181313T>ACA392956084SMAD3c.146T>A (p.Val49Asp)
c.416T>A (p.Val139Asp)
c.731T>A (p.Val244Asp)
n.434T>A
c.599T>A (p.Val200Asp)
n.282+6729T>A
c.584T>A (p.Val195Asp)
15g.67181313T>CCA392956087SMAD3c.146T>C (p.Val49Ala)
c.416T>C (p.Val139Ala)
c.731T>C (p.Val244Ala)
n.434T>C
c.599T>C (p.Val200Ala)
n.282+6729T>C
c.584T>C (p.Val195Ala)
15g.67181313T>GCA392956086SMAD3c.146T>G (p.Val49Gly)
c.416T>G (p.Val139Gly)
c.731T>G (p.Val244Gly)
n.434T>G
c.599T>G (p.Val200Gly)
n.282+6729T>G
c.584T>G (p.Val195Gly)
15g.67181314C>ACA490914653SMAD3c.147C>A (p.Val49=)
c.417C>A (p.Val139=)
c.732C>A (p.Val244=)
n.435C>A
c.600C>A (p.Val200=)
n.282+6730C>A
c.585C>A (p.Val195=)
15g.67181314C=CA2184414647SMAD3c.147C= (p.Val49=)
c.417C= (p.Val139=)
c.732C= (p.Val244=)
n.435C=
c.600C= (p.Val200=)
n.282+6730C=
c.585C= (p.Val195=)
15g.67181314C>GCA490914656SMAD3c.147C>G (p.Val49=)
c.417C>G (p.Val139=)
c.732C>G (p.Val244=)
n.435C>G
c.600C>G (p.Val200=)
n.282+6730C>G
c.585C>G (p.Val195=)
15g.67181314C>TCA062628SMAD3c.147C>T (p.Val49=)
c.417C>T (p.Val139=)
c.732C>T (p.Val244=)
n.435C>T
c.600C>T (p.Val200=)
n.282+6730C>T
c.585C>T (p.Val195=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
15g.67181314_67181315delinsCGCA2184414649SMAD3c.147_148delinsCG (p.Val49=)
c.417_418delinsCG (p.Val139=)
c.732_733delinsCG (p.Val244=)
n.435_436delinsCG
c.600_601delinsCG (p.Val200=)
n.282+6730_282+6731delinsCG
c.585_586delinsCG (p.Val195=)
15g.67181315G>ACA323714SMAD3c.148G>A (p.Gly50Arg)
c.418G>A (p.Gly140Arg)
c.733G>A (p.Gly245Arg)
n.436G>A
c.601G>A (p.Gly201Arg)
n.282+6731G>A
c.586G>A (p.Gly196Arg)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
15g.67181315G>CCA392956090SMAD3c.148G>C (p.Gly50Arg)
c.418G>C (p.Gly140Arg)
c.733G>C (p.Gly245Arg)
n.436G>C
c.601G>C (p.Gly201Arg)
n.282+6731G>C
c.586G>C (p.Gly196Arg)
 ClinVar dbSNP
15g.67181315G=CA2184414663SMAD3c.148G= (p.Gly50=)
c.418G= (p.Gly140=)
c.733G= (p.Gly245=)
n.436G=
c.601G= (p.Gly201=)
n.282+6731G=
c.586G= (p.Gly196=)
15g.67181315G>TCA392956092SMAD3c.148G>T (p.Gly50Trp)
c.418G>T (p.Gly140Trp)
c.733G>T (p.Gly245Trp)
n.436G>T
c.601G>T (p.Gly201Trp)
n.282+6731G>T
c.586G>T (p.Gly196Trp)
15g.67181318delCA915946042SMAD3c.151del (p.Glu51ArgfsTer10)
c.421del (p.Glu141ArgfsTer10)
c.736del (p.Glu246ArgfsTer10)
n.439del
c.604del (p.Glu202ArgfsTer10)
n.282+6734del
c.589del (p.Glu197ArgfsTer10)
 ClinVar dbSNP
15g.67181316G>ACA392956095SMAD3c.149G>A (p.Gly50Glu)
c.419G>A (p.Gly140Glu)
c.734G>A (p.Gly245Glu)
n.437G>A
c.602G>A (p.Gly201Glu)
n.282+6732G>A
c.587G>A (p.Gly196Glu)
 ClinVar dbSNP
15g.67181316G>CCA392956096SMAD3c.149G>C (p.Gly50Ala)
c.419G>C (p.Gly140Ala)
c.734G>C (p.Gly245Ala)
n.437G>C
c.602G>C (p.Gly201Ala)
n.282+6732G>C
c.587G>C (p.Gly196Ala)
 gnomAD v4
15g.67181316G=CA2184414670SMAD3c.149G= (p.Gly50=)
c.419G= (p.Gly140=)
c.734G= (p.Gly245=)
n.437G=
c.602G= (p.Gly201=)
n.282+6732G=
c.587G= (p.Gly196=)
15g.67181316G>TCA392956098SMAD3c.149G>T (p.Gly50Val)
c.419G>T (p.Gly140Val)
c.734G>T (p.Gly245Val)
n.437G>T
c.602G>T (p.Gly201Val)
n.282+6732G>T
c.587G>T (p.Gly196Val)
15g.67181317G>ACA490914671SMAD3c.150G>A (p.Gly50=)
c.420G>A (p.Gly140=)
c.735G>A (p.Gly245=)
n.438G>A
c.603G>A (p.Gly201=)
n.282+6733G>A
c.588G>A (p.Gly196=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.67181317G>CCA490914672SMAD3c.150G>C (p.Gly50=)
c.420G>C (p.Gly140=)
c.735G>C (p.Gly245=)
n.438G>C
c.603G>C (p.Gly201=)
n.282+6733G>C
c.588G>C (p.Gly196=)
15g.67181317G=CA2184414672SMAD3c.150G= (p.Gly50=)
c.420G= (p.Gly140=)
c.735G= (p.Gly245=)
n.438G=
c.603G= (p.Gly201=)
n.282+6733G=
c.588G= (p.Gly196=)
15g.67181317G>TCA490914673SMAD3c.150G>T (p.Gly50=)
c.420G>T (p.Gly140=)
c.735G>T (p.Gly245=)
n.438G>T
c.603G>T (p.Gly201=)
n.282+6733G>T
c.588G>T (p.Gly196=)
15g.67181318G>ACA392956100SMAD3c.151G>A (p.Glu51Lys)
c.421G>A (p.Glu141Lys)
c.736G>A (p.Glu246Lys)
n.439G>A
c.604G>A (p.Glu202Lys)
n.282+6734G>A
c.589G>A (p.Glu197Lys)
 dbSNP
15g.67181318G>CCA392956102SMAD3c.151G>C (p.Glu51Gln)
c.421G>C (p.Glu141Gln)
c.736G>C (p.Glu246Gln)
n.439G>C
c.604G>C (p.Glu202Gln)
n.282+6734G>C
c.589G>C (p.Glu197Gln)
15g.67181318G=CA2184414675SMAD3c.151G= (p.Glu51=)
c.421G= (p.Glu141=)
c.736G= (p.Glu246=)
n.439G=
c.604G= (p.Glu202=)
n.282+6734G=
c.589G= (p.Glu197=)
15g.67181318G>TCA392956103SMAD3c.151G>T (p.Glu51Ter)
c.421G>T (p.Glu141Ter)
c.736G>T (p.Glu246Ter)
n.439G>T
c.604G>T (p.Glu202Ter)
n.282+6734G>T
c.589G>T (p.Glu197Ter)
 COSMIC
15g.67181318_67181319insCCA2695220925SMAD3c.151_152insC (p.Glu51AlafsTer?)
c.421_422insC (p.Glu141AlafsTer?)
c.736_737insC (p.Glu246AlafsTer?)
n.439_440insC
c.604_605insC (p.Glu202AlafsTer?)
n.282+6734_282+6735insC
c.589_590insC (p.Glu197AlafsTer?)
15g.67181319A>CCA392956105SMAD3c.152A>C (p.Glu51Ala)
c.422A>C (p.Glu141Ala)
c.737A>C (p.Glu246Ala)
n.440A>C
c.605A>C (p.Glu202Ala)
n.282+6735A>C
c.590A>C (p.Glu197Ala)
15g.67181319A>GCA392956107SMAD3c.152A>G (p.Glu51Gly)
c.422A>G (p.Glu141Gly)
c.737A>G (p.Glu246Gly)
n.440A>G
c.605A>G (p.Glu202Gly)
n.282+6735A>G
c.590A>G (p.Glu197Gly)
 dbSNP gnomAD v4
15g.67181319A>TCA392956108SMAD3c.152A>T (p.Glu51Val)
c.422A>T (p.Glu141Val)
c.737A>T (p.Glu246Val)
n.440A>T
c.605A>T (p.Glu202Val)
n.282+6735A>T
c.590A>T (p.Glu197Val)
15g.67181320_67181323dupCA913191081SMAD3c.153_156dup (p.Phe53AspfsTer?)
c.423_426dup (p.Phe143AspfsTer?)
c.738_741dup (p.Phe248AspfsTer?)
n.441_444dup
c.606_609dup (p.Phe204AspfsTer?)
n.282+6736_282+6739dup
c.591_594dup (p.Phe199AspfsTer?)
 ClinVar dbSNP
15g.67181320G>ACA062634SMAD3c.153G>A (p.Glu51=)
c.423G>A (p.Glu141=)
c.738G>A (p.Glu246=)
n.441G>A
c.606G>A (p.Glu202=)
n.282+6736G>A
c.591G>A (p.Glu197=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.67181320G>CCA392956110SMAD3c.153G>C (p.Glu51Asp)
c.423G>C (p.Glu141Asp)
c.738G>C (p.Glu246Asp)
n.441G>C
c.606G>C (p.Glu202Asp)
n.282+6736G>C
c.591G>C (p.Glu197Asp)
15g.67181320G=CA2184414690SMAD3c.153G= (p.Glu51=)
c.423G= (p.Glu141=)
c.738G= (p.Glu246=)
n.441G=
c.606G= (p.Glu202=)
n.282+6736G=
c.591G= (p.Glu197=)
15g.67181320G>TCA392956112SMAD3c.153G>T (p.Glu51Asp)
c.423G>T (p.Glu141Asp)
c.738G>T (p.Glu246Asp)
n.441G>T
c.606G>T (p.Glu202Asp)
n.282+6736G>T
c.591G>T (p.Glu197Asp)
15g.67181321A=CA2184414694SMAD3c.154A= (p.Thr52=)
c.424A= (p.Thr142=)
c.739A= (p.Thr247=)
n.442A=
c.607A= (p.Thr203=)
n.282+6737A=
c.592A= (p.Thr198=)
15g.67181321A>CCA392956158SMAD3c.154A>C (p.Thr52Pro)
c.424A>C (p.Thr142Pro)
c.739A>C (p.Thr247Pro)
n.442A>C
c.607A>C (p.Thr203Pro)
n.282+6737A>C
c.592A>C (p.Thr198Pro)
15g.67181321A>GCA392956159SMAD3c.154A>G (p.Thr52Ala)
c.424A>G (p.Thr142Ala)
c.739A>G (p.Thr247Ala)
n.442A>G
c.607A>G (p.Thr203Ala)
n.282+6737A>G
c.592A>G (p.Thr198Ala)
 gnomAD v4
15g.67181321A>TCA392956160SMAD3c.154A>T (p.Thr52Ser)
c.424A>T (p.Thr142Ser)
c.739A>T (p.Thr247Ser)
n.442A>T
c.607A>T (p.Thr203Ser)
n.282+6737A>T
c.592A>T (p.Thr198Ser)
 ClinVar dbSNP
15g.67181322C>ACA392956161SMAD3c.155C>A (p.Thr52Lys)
c.425C>A (p.Thr142Lys)
c.740C>A (p.Thr247Lys)
n.443C>A
c.608C>A (p.Thr203Lys)
n.282+6738C>A
c.593C>A (p.Thr198Lys)
15g.67181322C>GCA392956162SMAD3c.155C>G (p.Thr52Arg)
c.425C>G (p.Thr142Arg)
c.740C>G (p.Thr247Arg)
n.443C>G
c.608C>G (p.Thr203Arg)
n.282+6738C>G
c.593C>G (p.Thr198Arg)
15g.67181322C>TCA392956163SMAD3c.155C>T (p.Thr52Ile)
c.425C>T (p.Thr142Ile)
c.740C>T (p.Thr247Ile)
n.443C>T
c.608C>T (p.Thr203Ile)
n.282+6738C>T
c.593C>T (p.Thr198Ile)
15g.67181322_67181324delinsCATCA2184414695SMAD3c.155_157delinsCAT (p.Thr52=)
c.425_427delinsCAT (p.Thr142=)
c.740_742delinsCAT (p.Thr247=)
n.443_445delinsCAT
c.608_610delinsCAT (p.Thr203=)
n.282+6738_282+6740delinsCAT
c.593_595delinsCAT (p.Thr198=)
15g.67181323A=CA2184414703SMAD3c.156A= (p.Thr52=)
c.426A= (p.Thr142=)
c.741A= (p.Thr247=)
n.444A=
c.609A= (p.Thr203=)
n.282+6739A=
c.594A= (p.Thr198=)
15g.67181323A>CCA490915161SMAD3c.156A>C (p.Thr52=)
c.426A>C (p.Thr142=)
c.741A>C (p.Thr247=)
n.444A>C
c.609A>C (p.Thr203=)
n.282+6739A>C
c.594A>C (p.Thr198=)
15g.67181323A>GCA490915162SMAD3c.156A>G (p.Thr52=)
c.426A>G (p.Thr142=)
c.741A>G (p.Thr247=)
n.444A>G
c.609A>G (p.Thr203=)
n.282+6739A>G
c.594A>G (p.Thr198=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.67181323A>TCA272390989SMAD3c.156A>T (p.Thr52=)
c.426A>T (p.Thr142=)
c.741A>T (p.Thr247=)
n.444A>T
c.609A>T (p.Thr203=)
n.282+6739A>T
c.594A>T (p.Thr198=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.67181323_67181324delCA020105SMAD3c.156_157del (p.Phe53ProfsTer?)
c.426_427del (p.Phe143ProfsTer?)
c.741_742del (p.Phe248ProfsTer?)
n.444_445del
c.609_610del (p.Phe204ProfsTer?)
n.282+6739_282+6740del
c.594_595del (p.Phe199ProfsTer?)
 ClinVar dbSNP
15g.67181324T>ACA392956164SMAD3c.157T>A (p.Phe53Ile)
c.427T>A (p.Phe143Ile)
c.742T>A (p.Phe248Ile)
n.445T>A
c.610T>A (p.Phe204Ile)
n.282+6740T>A
c.595T>A (p.Phe199Ile)
15g.67181324T>CCA392956165SMAD3c.157T>C (p.Phe53Leu)
c.427T>C (p.Phe143Leu)
c.742T>C (p.Phe248Leu)
n.445T>C
c.610T>C (p.Phe204Leu)
n.282+6740T>C
c.595T>C (p.Phe199Leu)
15g.67181324T>GCA392956166SMAD3c.157T>G (p.Phe53Val)
c.427T>G (p.Phe143Val)
c.742T>G (p.Phe248Val)
n.445T>G
c.610T>G (p.Phe204Val)
n.282+6740T>G
c.595T>G (p.Phe199Val)
 ClinVar
15g.67181325T>ACA392956168SMAD3c.158T>A (p.Phe53Tyr)
c.428T>A (p.Phe143Tyr)
c.743T>A (p.Phe248Tyr)
n.446T>A
c.611T>A (p.Phe204Tyr)
n.282+6741T>A
c.596T>A (p.Phe199Tyr)
15g.67181325T>CCA392956169SMAD3c.158T>C (p.Phe53Ser)
c.428T>C (p.Phe143Ser)
c.743T>C (p.Phe248Ser)
n.446T>C
c.611T>C (p.Phe204Ser)
n.282+6741T>C
c.596T>C (p.Phe199Ser)
15g.67181325T>GCA392956167SMAD3c.158T>G (p.Phe53Cys)
c.428T>G (p.Phe143Cys)
c.743T>G (p.Phe248Cys)
n.446T>G
c.611T>G (p.Phe204Cys)
n.282+6741T>G
c.596T>G (p.Phe199Cys)
15g.67181329_67181345delCA2695220926SMAD3c.162_178del (p.Ala55AspfsTer?)
c.432_448del (p.Ala145AspfsTer?)
c.747_763del (p.Ala250AspfsTer?)
n.450_466del
c.615_631del (p.Ala206AspfsTer?)
n.282+6745_282+6761del
c.600_616del (p.Ala201AspfsTer?)
15g.67181326C>ACA392956170SMAD3c.159C>A (p.Phe53Leu)
c.429C>A (p.Phe143Leu)
c.744C>A (p.Phe248Leu)
n.447C>A
c.612C>A (p.Phe204Leu)
n.282+6742C>A
c.597C>A (p.Phe199Leu)
 ClinVar
15g.67181326C=CA2184414711SMAD3c.159C= (p.Phe53=)
c.429C= (p.Phe143=)
c.744C= (p.Phe248=)
n.447C=
c.612C= (p.Phe204=)
n.282+6742C=
c.597C= (p.Phe199=)
15g.67181326C>GCA392956171SMAD3c.159C>G (p.Phe53Leu)
c.429C>G (p.Phe143Leu)
c.744C>G (p.Phe248Leu)
n.447C>G
c.612C>G (p.Phe204Leu)
n.282+6742C>G
c.597C>G (p.Phe199Leu)
 ClinVar
15g.67181326C>TCA062639SMAD3c.159C>T (p.Phe53=)
c.429C>T (p.Phe143=)
c.744C>T (p.Phe248=)
n.447C>T
c.612C>T (p.Phe204=)
n.282+6742C>T
c.597C>T (p.Phe199=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.67181327delCA2573151101SMAD3c.160del (p.His54ThrfsTer7)
c.430del (p.His144ThrfsTer7)
c.745del (p.His249ThrfsTer7)
n.448del
c.613del (p.His205ThrfsTer7)
n.282+6743del
c.598del (p.His200ThrfsTer7)
 ClinVar dbSNP
15g.67181327C>ACA392956172SMAD3c.160C>A (p.His54Asn)
c.430C>A (p.His144Asn)
c.745C>A (p.His249Asn)
n.448C>A
c.613C>A (p.His205Asn)
n.282+6743C>A
c.598C>A (p.His200Asn)
15g.67181327C>GCA392956173SMAD3c.160C>G (p.His54Asp)
c.430C>G (p.His144Asp)
c.745C>G (p.His249Asp)
n.448C>G
c.613C>G (p.His205Asp)
n.282+6743C>G
c.598C>G (p.His200Asp)
15g.67181327C>TCA392956174SMAD3c.160C>T (p.His54Tyr)
c.430C>T (p.His144Tyr)
c.745C>T (p.His249Tyr)
n.448C>T
c.613C>T (p.His205Tyr)
n.282+6743C>T
c.598C>T (p.His200Tyr)
 dbSNP
15g.67181328A>CCA392956175SMAD3c.161A>C (p.His54Pro)
c.431A>C (p.His144Pro)
c.746A>C (p.His249Pro)
n.449A>C
c.614A>C (p.His205Pro)
n.282+6744A>C
c.599A>C (p.His200Pro)
15g.67181328A>GCA392956176SMAD3c.161A>G (p.His54Arg)
c.431A>G (p.His144Arg)
c.746A>G (p.His249Arg)
n.449A>G
c.614A>G (p.His205Arg)
n.282+6744A>G
c.599A>G (p.His200Arg)
15g.67181328A>TCA392956177SMAD3c.161A>T (p.His54Leu)
c.431A>T (p.His144Leu)
c.746A>T (p.His249Leu)
n.449A>T
c.614A>T (p.His205Leu)
n.282+6744A>T
c.599A>T (p.His200Leu)
15g.67181329C>ACA392956178SMAD3c.162C>A (p.His54Gln)
c.432C>A (p.His144Gln)
c.747C>A (p.His249Gln)
n.450C>A
c.615C>A (p.His205Gln)
n.282+6745C>A
c.600C>A (p.His200Gln)
15g.67181329C=CA2184414717SMAD3c.162C= (p.His54=)
c.432C= (p.His144=)
c.747C= (p.His249=)
n.450C=
c.615C= (p.His205=)
n.282+6745C=
c.600C= (p.His200=)
15g.67181329C>GCA392956179SMAD3c.162C>G (p.His54Gln)
c.432C>G (p.His144Gln)
c.747C>G (p.His249Gln)
n.450C>G
c.615C>G (p.His205Gln)
n.282+6745C>G
c.600C>G (p.His200Gln)
15g.67181329C>TCA062644SMAD3c.162C>T (p.His54=)
c.432C>T (p.His144=)
c.747C>T (p.His249=)
n.450C>T
c.615C>T (p.His205=)
n.282+6745C>T
c.600C>T (p.His200=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.67181330G>ACA392956182SMAD3c.163G>A (p.Ala55Thr)
c.433G>A (p.Ala145Thr)
c.748G>A (p.Ala250Thr)
n.451G>A
c.616G>A (p.Ala206Thr)
n.282+6746G>A
c.601G>A (p.Ala201Thr)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
15g.67181330G>CCA392956180SMAD3c.163G>C (p.Ala55Pro)
c.433G>C (p.Ala145Pro)
c.748G>C (p.Ala250Pro)
n.451G>C
c.616G>C (p.Ala206Pro)
n.282+6746G>C
c.601G>C (p.Ala201Pro)
15g.67181330G>TCA392956181SMAD3c.163G>T (p.Ala55Ser)
c.433G>T (p.Ala145Ser)
c.748G>T (p.Ala250Ser)
n.451G>T
c.616G>T (p.Ala206Ser)
n.282+6746G>T
c.601G>T (p.Ala201Ser)
 COSMIC COSMIC
15g.67181331C>ACA392956183SMAD3c.164C>A (p.Ala55Asp)
c.434C>A (p.Ala145Asp)
c.749C>A (p.Ala250Asp)
n.452C>A
c.617C>A (p.Ala206Asp)
n.282+6747C>A
c.602C>A (p.Ala201Asp)
15g.67181331C>GCA392956184SMAD3c.164C>G (p.Ala55Gly)
c.434C>G (p.Ala145Gly)
c.749C>G (p.Ala250Gly)
n.452C>G
c.617C>G (p.Ala206Gly)
n.282+6747C>G
c.602C>G (p.Ala201Gly)
15g.67181331C>TCA392956185SMAD3c.164C>T (p.Ala55Val)
c.434C>T (p.Ala145Val)
c.749C>T (p.Ala250Val)
n.452C>T
c.617C>T (p.Ala206Val)
n.282+6747C>T
c.602C>T (p.Ala201Val)
15g.67181332C>ACA490915192SMAD3c.165C>A (p.Ala55=)
c.435C>A (p.Ala145=)
c.750C>A (p.Ala250=)
n.453C>A
c.618C>A (p.Ala206=)
n.282+6748C>A
c.603C>A (p.Ala201=)
15g.67181332C=CA2184414722SMAD3c.165C= (p.Ala55=)
c.435C= (p.Ala145=)
c.750C= (p.Ala250=)
n.453C=
c.618C= (p.Ala206=)
n.282+6748C=
c.603C= (p.Ala201=)
15g.67181332C>GCA490915188SMAD3c.165C>G (p.Ala55=)
c.435C>G (p.Ala145=)
c.750C>G (p.Ala250=)
n.453C>G
c.618C>G (p.Ala206=)
n.282+6748C>G
c.603C>G (p.Ala201=)
15g.67181332C>TCA062658SMAD3c.165C>T (p.Ala55=)
c.435C>T (p.Ala145=)
c.750C>T (p.Ala250=)
n.453C>T
c.618C>T (p.Ala206=)
n.282+6748C>T
c.603C>T (p.Ala201=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.67181333T>ACA392956186SMAD3c.166T>A (p.Ser56Thr)
c.436T>A (p.Ser146Thr)
c.751T>A (p.Ser251Thr)
n.454T>A
c.619T>A (p.Ser207Thr)
n.282+6749T>A
c.604T>A (p.Ser202Thr)
15g.67181333T>CCA392956187SMAD3c.166T>C (p.Ser56Pro)
c.436T>C (p.Ser146Pro)
c.751T>C (p.Ser251Pro)
n.454T>C
c.619T>C (p.Ser207Pro)
n.282+6749T>C
c.604T>C (p.Ser202Pro)
15g.67181333T>GCA392956188SMAD3c.166T>G (p.Ser56Ala)
c.436T>G (p.Ser146Ala)
c.751T>G (p.Ser251Ala)
n.454T>G
c.619T>G (p.Ser207Ala)
n.282+6749T>G
c.604T>G (p.Ser202Ala)
 gnomAD v4
15g.67181333T=CA2184414726SMAD3c.166T= (p.Ser56=)
c.436T= (p.Ser146=)
c.751T= (p.Ser251=)
n.454T=
c.619T= (p.Ser207=)
n.282+6749T=
c.604T= (p.Ser202=)
15g.67181334C>ACA392956189SMAD3c.167C>A (p.Ser56Ter)
c.437C>A (p.Ser146Ter)
c.752C>A (p.Ser251Ter)
n.455C>A
c.620C>A (p.Ser207Ter)
n.282+6750C>A
c.605C>A (p.Ser202Ter)
15g.67181334C>GCA392956190SMAD3c.167C>G (p.Ser56Trp)
c.437C>G (p.Ser146Trp)
c.752C>G (p.Ser251Trp)
n.455C>G
c.620C>G (p.Ser207Trp)
n.282+6750C>G
c.605C>G (p.Ser202Trp)
15g.67181334C>TCA392956191SMAD3c.167C>T (p.Ser56Leu)
c.437C>T (p.Ser146Leu)
c.752C>T (p.Ser251Leu)
n.455C>T
c.620C>T (p.Ser207Leu)
n.282+6750C>T
c.605C>T (p.Ser202Leu)
 dbSNP gnomAD v4
15g.67181345_67181346insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCACA915946043SMAD3c.178_179insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA (p.Met60ThrfsTer19)
c.448_449insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA (p.Met150ThrfsTer19)
c.763_764insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA (p.Met255ThrfsTer19)
n.466_467insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA
c.631_632insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA (p.Met211ThrfsTer19)
n.282+6761_282+6762insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA
c.616_617insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA (p.Met206ThrfsTer19)
 ClinVar dbSNP
15g.67181335G>ACA272391023SMAD3c.168G>A (p.Ser56=)
c.438G>A (p.Ser146=)
c.753G>A (p.Ser251=)
n.456G>A
c.621G>A (p.Ser207=)
n.282+6751G>A
c.606G>A (p.Ser202=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.67181335G>CCA490915204SMAD3c.168G>C (p.Ser56=)
c.438G>C (p.Ser146=)
c.753G>C (p.Ser251=)
n.456G>C
c.621G>C (p.Ser207=)
n.282+6751G>C
c.606G>C (p.Ser202=)
15g.67181335G=CA2184414733SMAD3c.168G= (p.Ser56=)
c.438G= (p.Ser146=)
c.753G= (p.Ser251=)
n.456G=
c.621G= (p.Ser207=)
n.282+6751G=
c.606G= (p.Ser202=)
15g.67181335G>TCA490915202SMAD3c.168G>T (p.Ser56=)
c.438G>T (p.Ser146=)
c.753G>T (p.Ser251=)
n.456G>T
c.621G>T (p.Ser207=)
n.282+6751G>T
c.606G>T (p.Ser202=)
 gnomAD v4
15g.67181336C>ACA392956192SMAD3c.169C>A (p.Gln57Lys)
c.439C>A (p.Gln147Lys)
c.754C>A (p.Gln252Lys)
n.457C>A
c.622C>A (p.Gln208Lys)
n.282+6752C>A
c.607C>A (p.Gln203Lys)
15g.67181336C=CA2184414742SMAD3c.169C= (p.Gln57=)
c.439C= (p.Gln147=)
c.754C= (p.Gln252=)
n.457C=
c.622C= (p.Gln208=)
n.282+6752C=
c.607C= (p.Gln203=)
15g.67181336C>GCA392956193SMAD3c.169C>G (p.Gln57Glu)
c.439C>G (p.Gln147Glu)
c.754C>G (p.Gln252Glu)
n.457C>G
c.622C>G (p.Gln208Glu)
n.282+6752C>G
c.607C>G (p.Gln203Glu)
15g.67181336C>TCA392956194SMAD3c.169C>T (p.Gln57Ter)
c.439C>T (p.Gln147Ter)
c.754C>T (p.Gln252Ter)
n.457C>T
c.622C>T (p.Gln208Ter)
n.282+6752C>T
c.607C>T (p.Gln203Ter)
 ClinVar dbSNP
15g.67181337A>CCA392956197SMAD3c.170A>C (p.Gln57Pro)
c.440A>C (p.Gln147Pro)
c.755A>C (p.Gln252Pro)
n.458A>C
c.623A>C (p.Gln208Pro)
n.282+6753A>C
c.608A>C (p.Gln203Pro)
15g.67181337A>GCA392956196SMAD3c.170A>G (p.Gln57Arg)
c.440A>G (p.Gln147Arg)
c.755A>G (p.Gln252Arg)
n.458A>G
c.623A>G (p.Gln208Arg)
n.282+6753A>G
c.608A>G (p.Gln203Arg)
15g.67181337A>TCA392956195SMAD3c.170A>T (p.Gln57Leu)
c.440A>T (p.Gln147Leu)
c.755A>T (p.Gln252Leu)
n.458A>T
c.623A>T (p.Gln208Leu)
n.282+6753A>T
c.608A>T (p.Gln203Leu)
15g.67181338G>ACA490915215SMAD3c.171G>A (p.Gln57=)
c.441G>A (p.Gln147=)
c.756G>A (p.Gln252=)
n.459G>A
c.624G>A (p.Gln208=)
n.282+6754G>A
c.609G>A (p.Gln203=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.67181338G>CCA392956199SMAD3c.171G>C (p.Gln57His)
c.441G>C (p.Gln147His)
c.756G>C (p.Gln252His)
n.459G>C
c.624G>C (p.Gln208His)
n.282+6754G>C
c.609G>C (p.Gln203His)
15g.67181338G=CA2184414749SMAD3c.171G= (p.Gln57=)
c.441G= (p.Gln147=)
c.756G= (p.Gln252=)
n.459G=
c.624G= (p.Gln208=)
n.282+6754G=
c.609G= (p.Gln203=)
15g.67181338G>TCA392956198SMAD3c.171G>T (p.Gln57His)
c.441G>T (p.Gln147His)
c.756G>T (p.Gln252His)
n.459G>T
c.624G>T (p.Gln208His)
n.282+6754G>T
c.609G>T (p.Gln203His)
15g.67181339C>ACA392956202SMAD3c.172C>A (p.Pro58Thr)
c.442C>A (p.Pro148Thr)
c.757C>A (p.Pro253Thr)
n.460C>A
c.625C>A (p.Pro209Thr)
n.282+6755C>A
c.610C>A (p.Pro204Thr)
15g.67181339C>GCA392956200SMAD3c.172C>G (p.Pro58Ala)
c.442C>G (p.Pro148Ala)
c.757C>G (p.Pro253Ala)
n.460C>G
c.625C>G (p.Pro209Ala)
n.282+6755C>G
c.610C>G (p.Pro204Ala)
15g.67181339C>TCA392956201SMAD3c.172C>T (p.Pro58Ser)
c.442C>T (p.Pro148Ser)
c.757C>T (p.Pro253Ser)
n.460C>T
c.625C>T (p.Pro209Ser)
n.282+6755C>T
c.610C>T (p.Pro204Ser)
 dbSNP
15g.67181340C>ACA392956203SMAD3c.173C>A (p.Pro58Gln)
c.443C>A (p.Pro148Gln)
c.758C>A (p.Pro253Gln)
n.461C>A
c.626C>A (p.Pro209Gln)
n.282+6756C>A
c.611C>A (p.Pro204Gln)
15g.67181340C>GCA392956204SMAD3c.173C>G (p.Pro58Arg)
c.443C>G (p.Pro148Arg)
c.758C>G (p.Pro253Arg)
n.461C>G
c.626C>G (p.Pro209Arg)
n.282+6756C>G
c.611C>G (p.Pro204Arg)
15g.67181340C>TCA392956205SMAD3c.173C>T (p.Pro58Leu)
c.443C>T (p.Pro148Leu)
c.758C>T (p.Pro253Leu)
n.461C>T
c.626C>T (p.Pro209Leu)
n.282+6756C>T
c.611C>T (p.Pro204Leu)
 gnomAD v4
15g.67181341A=CA2184414753SMAD3c.174A= (p.Pro58=)
c.444A= (p.Pro148=)
c.759A= (p.Pro253=)
n.462A=
c.627A= (p.Pro209=)
n.282+6757A=
c.612A= (p.Pro204=)
15g.67181341A>CCA490915229SMAD3c.174A>C (p.Pro58=)
c.444A>C (p.Pro148=)
c.759A>C (p.Pro253=)
n.462A>C
c.627A>C (p.Pro209=)
n.282+6757A>C
c.612A>C (p.Pro204=)
15g.67181341A>GCA490915231SMAD3c.174A>G (p.Pro58=)
c.444A>G (p.Pro148=)
c.759A>G (p.Pro253=)
n.462A>G
c.627A>G (p.Pro209=)
n.282+6757A>G
c.612A>G (p.Pro204=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.67181341A>TCA490915234SMAD3c.174A>T (p.Pro58=)
c.444A>T (p.Pro148=)
c.759A>T (p.Pro253=)
n.462A>T
c.627A>T (p.Pro209=)
n.282+6757A>T
c.612A>T (p.Pro204=)
15g.67181342T>ACA392956206SMAD3c.175T>A (p.Ser59Thr)
c.445T>A (p.Ser149Thr)
c.760T>A (p.Ser254Thr)
n.463T>A
c.628T>A (p.Ser210Thr)
n.282+6758T>A
c.613T>A (p.Ser205Thr)
15g.67181342T>CCA392956207SMAD3c.175T>C (p.Ser59Pro)
c.445T>C (p.Ser149Pro)
c.760T>C (p.Ser254Pro)
n.463T>C
c.628T>C (p.Ser210Pro)
n.282+6758T>C
c.613T>C (p.Ser205Pro)
15g.67181342T>GCA392956208SMAD3c.175T>G (p.Ser59Ala)
c.445T>G (p.Ser149Ala)
c.760T>G (p.Ser254Ala)
n.463T>G
c.628T>G (p.Ser210Ala)
n.282+6758T>G
c.613T>G (p.Ser205Ala)
15g.67181343C>ACA392956209SMAD3c.176C>A (p.Ser59Tyr)
c.446C>A (p.Ser149Tyr)
c.761C>A (p.Ser254Tyr)
n.464C>A
c.629C>A (p.Ser210Tyr)
n.282+6759C>A
c.614C>A (p.Ser205Tyr)
15g.67181343C>GCA392956210SMAD3c.176C>G (p.Ser59Cys)
c.446C>G (p.Ser149Cys)
c.761C>G (p.Ser254Cys)
n.464C>G
c.629C>G (p.Ser210Cys)
n.282+6759C>G
c.614C>G (p.Ser205Cys)
15g.67181343C>TCA392956211SMAD3c.176C>T (p.Ser59Phe)
c.446C>T (p.Ser149Phe)
c.761C>T (p.Ser254Phe)
n.464C>T
c.629C>T (p.Ser210Phe)
n.282+6759C>T
c.614C>T (p.Ser205Phe)
15g.67181344delCA658820894SMAD3c.177del (p.Met60Ter)
c.447del (p.Met150Ter)
c.762del (p.Met255Ter)
n.465del
c.630del (p.Met211Ter)
n.282+6760del
c.615del (p.Met206Ter)
15g.67181344C>ACA490915244SMAD3c.177C>A (p.Ser59=)
c.447C>A (p.Ser149=)
c.762C>A (p.Ser254=)
n.465C>A
c.630C>A (p.Ser210=)
n.282+6760C>A
c.615C>A (p.Ser205=)
 ClinVar dbSNP
15g.67181344C=CA2184414755SMAD3c.177C= (p.Ser59=)
c.447C= (p.Ser149=)
c.762C= (p.Ser254=)
n.465C=
c.630C= (p.Ser210=)
n.282+6760C=
c.615C= (p.Ser205=)
15g.67181344C>GCA490915247SMAD3c.177C>G (p.Ser59=)
c.447C>G (p.Ser149=)
c.762C>G (p.Ser254=)
n.465C>G
c.630C>G (p.Ser210=)
n.282+6760C>G
c.615C>G (p.Ser205=)
15g.67181344C>TCA490915249SMAD3c.177C>T (p.Ser59=)
c.447C>T (p.Ser149=)
c.762C>T (p.Ser254=)
n.465C>T
c.630C>T (p.Ser210=)
n.282+6760C>T
c.615C>T (p.Ser205=)
 gnomAD v4
15g.67181345A=CA2184414758SMAD3c.178A= (p.Met60=)
c.448A= (p.Met150=)
c.763A= (p.Met255=)
n.466A=
c.631A= (p.Met211=)
n.282+6761A=
c.616A= (p.Met206=)
15g.67181345A>CCA392956214SMAD3c.178A>C (p.Met60Leu)
c.448A>C (p.Met150Leu)
c.763A>C (p.Met255Leu)
n.466A>C
c.631A>C (p.Met211Leu)
n.282+6761A>C
c.616A>C (p.Met206Leu)
15g.67181345A>GCA392956213SMAD3c.178A>G (p.Met60Val)
c.448A>G (p.Met150Val)
c.763A>G (p.Met255Val)
n.466A>G
c.631A>G (p.Met211Val)
n.282+6761A>G
c.616A>G (p.Met206Val)
 gnomAD v4
15g.67181345A>TCA392956212SMAD3c.178A>T (p.Met60Leu)
c.448A>T (p.Met150Leu)
c.763A>T (p.Met255Leu)
n.466A>T
c.631A>T (p.Met211Leu)
n.282+6761A>T
c.616A>T (p.Met206Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.67181346_67181348delCA2629118734SMAD3c.179_181del (p.Met60del)
c.449_451del (p.Met150del)
c.764_766del (p.Met255del)
n.467_469del
c.632_634del (p.Met211del)
n.282+6762_282+6764del
c.617_619del (p.Met206del)
 dbSNP gnomAD v4
15g.67181346T>ACA392956215SMAD3c.179T>A (p.Met60Lys)
c.449T>A (p.Met150Lys)
c.764T>A (p.Met255Lys)
n.467T>A
c.632T>A (p.Met211Lys)
n.282+6762T>A
c.617T>A (p.Met206Lys)
15g.67181346T>CCA392956216SMAD3c.179T>C (p.Met60Thr)
c.449T>C (p.Met150Thr)
c.764T>C (p.Met255Thr)
n.467T>C
c.632T>C (p.Met211Thr)
n.282+6762T>C
c.617T>C (p.Met206Thr)
15g.67181346T>GCA10587876SMAD3c.179T>G (p.Met60Arg)
c.449T>G (p.Met150Arg)
c.764T>G (p.Met255Arg)
n.467T>G
c.632T>G (p.Met211Arg)
n.282+6762T>G
c.617T>G (p.Met206Arg)
 ClinVar dbSNP
15g.67181346T=CA2184414763SMAD3c.179T= (p.Met60=)
c.449T= (p.Met150=)
c.764T= (p.Met255=)
n.467T=
c.632T= (p.Met211=)
n.282+6762T=
c.617T= (p.Met206=)
15g.67181347G>ACA392956217SMAD3c.180G>A (p.Met60Ile)
c.450G>A (p.Met150Ile)
c.765G>A (p.Met255Ile)
n.468G>A
c.633G>A (p.Met211Ile)
n.282+6763G>A
c.618G>A (p.Met206Ile)
 COSMIC COSMIC
15g.67181347G>CCA392956218SMAD3c.180G>C (p.Met60Ile)
c.450G>C (p.Met150Ile)
c.765G>C (p.Met255Ile)
n.468G>C
c.633G>C (p.Met211Ile)
n.282+6763G>C
c.618G>C (p.Met206Ile)
15g.67181347G>TCA392956219SMAD3c.180G>T (p.Met60Ile)
c.450G>T (p.Met150Ile)
c.765G>T (p.Met255Ile)
n.468G>T
c.633G>T (p.Met211Ile)
n.282+6763G>T
c.618G>T (p.Met206Ile)
15g.67181348A>CCA392956220SMAD3c.181A>C (p.Thr61Pro)
c.451A>C (p.Thr151Pro)
c.766A>C (p.Thr256Pro)
n.469A>C
c.634A>C (p.Thr212Pro)
n.282+6764A>C
c.619A>C (p.Thr207Pro)
15g.67181348A>GCA392956221SMAD3c.181A>G (p.Thr61Ala)
c.451A>G (p.Thr151Ala)
c.766A>G (p.Thr256Ala)
n.469A>G
c.634A>G (p.Thr212Ala)
n.282+6764A>G
c.619A>G (p.Thr207Ala)
15g.67181348A>TCA392956222SMAD3c.181A>T (p.Thr61Ser)
c.451A>T (p.Thr151Ser)
c.766A>T (p.Thr256Ser)
n.469A>T
c.634A>T (p.Thr212Ser)
n.282+6764A>T
c.619A>T (p.Thr207Ser)
15g.67181349C>ACA392956223SMAD3c.182C>A (p.Thr61Asn)
c.452C>A (p.Thr151Asn)
c.767C>A (p.Thr256Asn)
n.470C>A
c.635C>A (p.Thr212Asn)
n.282+6765C>A
c.620C>A (p.Thr207Asn)
15g.67181349C>GCA392956224SMAD3c.182C>G (p.Thr61Ser)
c.452C>G (p.Thr151Ser)
c.767C>G (p.Thr256Ser)
n.470C>G
c.635C>G (p.Thr212Ser)
n.282+6765C>G
c.620C>G (p.Thr207Ser)
15g.67181349C>TCA392956225SMAD3c.182C>T (p.Thr61Ile)
c.452C>T (p.Thr151Ile)
c.767C>T (p.Thr256Ile)
n.470C>T
c.635C>T (p.Thr212Ile)
n.282+6765C>T
c.620C>T (p.Thr207Ile)
15g.67181352_67181391delCA2697549151SMAD3c.185_224del (p.Val62AlafsTer2)
c.455_494del (p.Val152AlafsTer2)
c.770_809del (p.Val257AlafsTer2)
n.473_512del
c.638_677del (p.Val213AlafsTer2)
n.282+6768_282+6807del
c.623_662del (p.Val208AlafsTer2)
 ClinVar
15g.67181350T>ACA490915279SMAD3c.183T>A (p.Thr61=)
c.453T>A (p.Thr151=)
c.768T>A (p.Thr256=)
n.471T>A
c.636T>A (p.Thr212=)
n.282+6766T>A
c.621T>A (p.Thr207=)
 gnomAD v4
15g.67181350T>CCA490915280SMAD3c.183T>C (p.Thr61=)
c.453T>C (p.Thr151=)
c.768T>C (p.Thr256=)
n.471T>C
c.636T>C (p.Thr212=)
n.282+6766T>C
c.621T>C (p.Thr207=)
 dbSNP gnomAD v4
15g.67181350T>GCA490915282SMAD3c.183T>G (p.Thr61=)
c.453T>G (p.Thr151=)
c.768T>G (p.Thr256=)
n.471T>G
c.636T>G (p.Thr212=)
n.282+6766T>G
c.621T>G (p.Thr207=)
 ClinVar
15g.67181350T=CA2184414767SMAD3c.183T= (p.Thr61=)
c.453T= (p.Thr151=)
c.768T= (p.Thr256=)
n.471T=
c.636T= (p.Thr212=)
n.282+6766T=
c.621T= (p.Thr207=)
15g.67181350_67181351delinsTGCA2184414768SMAD3c.183_184delinsTG (p.Thr61=)
c.453_454delinsTG (p.Thr151=)
c.768_769delinsTG (p.Thr256=)
n.471_472delinsTG
c.636_637delinsTG (p.Thr212=)
n.282+6766_282+6767delinsTG
c.621_622delinsTG (p.Thr207=)
15g.67181352_67181353delCA2629118735SMAD3c.185_186del (p.Val62GlyfsTer?)
c.455_456del (p.Val152GlyfsTer?)
c.770_771del (p.Val257GlyfsTer?)
n.473_474del
c.638_639del (p.Val213GlyfsTer?)
n.282+6768_282+6769del
c.623_624del (p.Val208GlyfsTer?)
 ClinVar gnomAD v4
15g.67181351delCA658798396SMAD3c.184del (p.Val62TrpfsTer15)
c.454del (p.Val152TrpfsTer15)
c.769del (p.Val257TrpfsTer15)
n.472del
c.637del (p.Val213TrpfsTer15)
n.282+6767del
c.622del (p.Val208TrpfsTer15)
 ClinVar dbSNP
15g.67181351G>ACA392956227SMAD3c.184G>A (p.Val62Met)
c.454G>A (p.Val152Met)
c.769G>A (p.Val257Met)
n.472G>A
c.637G>A (p.Val213Met)
n.282+6767G>A
c.622G>A (p.Val208Met)
 ClinVar dbSNP
15g.67181351G>CCA392956228SMAD3c.184G>C (p.Val62Leu)
c.454G>C (p.Val152Leu)
c.769G>C (p.Val257Leu)
n.472G>C
c.637G>C (p.Val213Leu)
n.282+6767G>C
c.622G>C (p.Val208Leu)
15g.67181351G=CA2184414776SMAD3c.184G= (p.Val62=)
c.454G= (p.Val152=)
c.769G= (p.Val257=)
n.472G=
c.637G= (p.Val213=)
n.282+6767G=
c.622G= (p.Val208=)
15g.67181351G>TCA392956226SMAD3c.184G>T (p.Val62Leu)
c.454G>T (p.Val152Leu)
c.769G>T (p.Val257Leu)
n.472G>T
c.637G>T (p.Val213Leu)
n.282+6767G>T
c.622G>T (p.Val208Leu)
15g.67181352T>ACA392956229SMAD3c.185T>A (p.Val62Glu)
c.455T>A (p.Val152Glu)
c.770T>A (p.Val257Glu)
n.473T>A
c.638T>A (p.Val213Glu)
n.282+6768T>A
c.623T>A (p.Val208Glu)
 dbSNP
15g.67181352T>CCA392956230SMAD3c.185T>C (p.Val62Ala)
c.455T>C (p.Val152Ala)
c.770T>C (p.Val257Ala)
n.473T>C
c.638T>C (p.Val213Ala)
n.282+6768T>C
c.623T>C (p.Val208Ala)
15g.67181352T>GCA392956231SMAD3c.185T>G (p.Val62Gly)
c.455T>G (p.Val152Gly)
c.770T>G (p.Val257Gly)
n.473T>G
c.638T>G (p.Val213Gly)
n.282+6768T>G
c.623T>G (p.Val208Gly)
15g.67181352_67181353insCATCA2629118736SMAD3c.185_186insCAT (p.Val62_Asp63insMet)
c.455_456insCAT (p.Val152_Asp153insMet)
c.770_771insCAT (p.Val257_Asp258insMet)
n.473_474insCAT
c.638_639insCAT (p.Val213_Asp214insMet)
n.282+6768_282+6769insCAT
c.623_624insCAT (p.Val208_Asp209insMet)
 gnomAD v4
15g.67181353G>ACA490915291SMAD3c.186G>A (p.Val62=)
c.456G>A (p.Val152=)
c.771G>A (p.Val257=)
n.474G>A
c.639G>A (p.Val213=)
n.282+6769G>A
c.624G>A (p.Val208=)
15g.67181353G>CCA490915295SMAD3c.186G>C (p.Val62=)
c.456G>C (p.Val152=)
c.771G>C (p.Val257=)
n.474G>C
c.639G>C (p.Val213=)
n.282+6769G>C
c.624G>C (p.Val208=)
15g.67181353G>TCA490915297SMAD3c.186G>T (p.Val62=)
c.456G>T (p.Val152=)
c.771G>T (p.Val257=)
n.474G>T
c.639G>T (p.Val213=)
n.282+6769G>T
c.624G>T (p.Val208=)
15g.67181354G>ACA392956232SMAD3c.187G>A (p.Asp63Asn)
c.457G>A (p.Asp153Asn)
c.772G>A (p.Asp258Asn)
n.475G>A
c.640G>A (p.Asp214Asn)
n.282+6770G>A
c.625G>A (p.Asp209Asn)
 dbSNP COSMIC
15g.67181354G>CCA325318SMAD3c.187G>C (p.Asp63His)
c.457G>C (p.Asp153His)
c.772G>C (p.Asp258His)
n.475G>C
c.640G>C (p.Asp214His)
n.282+6770G>C
c.625G>C (p.Asp209His)
 ClinVar dbSNP
15g.67181354G=CA2184414782SMAD3c.187G= (p.Asp63=)
c.457G= (p.Asp153=)
c.772G= (p.Asp258=)
n.475G=
c.640G= (p.Asp214=)
n.282+6770G=
c.625G= (p.Asp209=)
15g.67181354G>TCA392956233SMAD3c.187G>T (p.Asp63Tyr)
c.457G>T (p.Asp153Tyr)
c.772G>T (p.Asp258Tyr)
n.475G>T
c.640G>T (p.Asp214Tyr)
n.282+6770G>T
c.625G>T (p.Asp209Tyr)
15g.67181354_67181379delinsTCA2697549153SMAD3c.187_212delinsT (p.Asp63TrpfsTer6)
c.457_482delinsT (p.Asp153TrpfsTer6)
c.772_797delinsT (p.Asp258TrpfsTer6)
n.475_500delinsT
c.640_665delinsT (p.Asp214TrpfsTer6)
n.282+6770_282+6795delinsT
c.625_650delinsT (p.Asp209TrpfsTer6)
 ClinVar
15g.67181355A=CA2184414791SMAD3c.188A= (p.Asp63=)
c.458A= (p.Asp153=)
c.773A= (p.Asp258=)
n.476A=
c.641A= (p.Asp214=)
n.282+6771A=
c.626A= (p.Asp209=)
15g.67181355A>CCA392956236SMAD3c.188A>C (p.Asp63Ala)
c.458A>C (p.Asp153Ala)
c.773A>C (p.Asp258Ala)
n.476A>C
c.641A>C (p.Asp214Ala)
n.282+6771A>C
c.626A>C (p.Asp209Ala)
 ClinVar dbSNP
15g.67181355A>GCA392956234SMAD3c.188A>G (p.Asp63Gly)
c.458A>G (p.Asp153Gly)
c.773A>G (p.Asp258Gly)
n.476A>G
c.641A>G (p.Asp214Gly)
n.282+6771A>G
c.626A>G (p.Asp209Gly)
 ClinVar dbSNP
15g.67181355A>TCA392956235SMAD3c.188A>T (p.Asp63Val)
c.458A>T (p.Asp153Val)
c.773A>T (p.Asp258Val)
n.476A>T
c.641A>T (p.Asp214Val)
n.282+6771A>T
c.626A>T (p.Asp209Val)
15g.67181356T>ACA392956237SMAD3c.189T>A (p.Asp63Glu)
c.459T>A (p.Asp153Glu)
c.774T>A (p.Asp258Glu)
n.477T>A
c.642T>A (p.Asp214Glu)
n.282+6772T>A
c.627T>A (p.Asp209Glu)
15g.67181356T>CCA490915315SMAD3c.189T>C (p.Asp63=)
c.459T>C (p.Asp153=)
c.774T>C (p.Asp258=)
n.477T>C
c.642T>C (p.Asp214=)
n.282+6772T>C
c.627T>C (p.Asp209=)
15g.67181356T>GCA392956238SMAD3c.189T>G (p.Asp63Glu)
c.459T>G (p.Asp153Glu)
c.774T>G (p.Asp258Glu)
n.477T>G
c.642T>G (p.Asp214Glu)
n.282+6772T>G
c.627T>G (p.Asp209Glu)
15g.67181357G>ACA392956239SMAD3c.190G>A (p.Gly64Ser)
c.460G>A (p.Gly154Ser)
c.775G>A (p.Gly259Ser)
n.478G>A
c.643G>A (p.Gly215Ser)
n.282+6773G>A
c.628G>A (p.Gly210Ser)
15g.67181357G>CCA392956240SMAD3c.190G>C (p.Gly64Arg)
c.460G>C (p.Gly154Arg)
c.775G>C (p.Gly259Arg)
n.478G>C
c.643G>C (p.Gly215Arg)
n.282+6773G>C
c.628G>C (p.Gly210Arg)
15g.67181357G>TCA392956241SMAD3c.190G>T (p.Gly64Cys)
c.460G>T (p.Gly154Cys)
c.775G>T (p.Gly259Cys)
n.478G>T
c.643G>T (p.Gly215Cys)
n.282+6773G>T
c.628G>T (p.Gly210Cys)
15g.67181358G>ACA392956242SMAD3c.191G>A (p.Gly64Asp)
c.461G>A (p.Gly154Asp)
c.776G>A (p.Gly259Asp)
n.479G>A
c.644G>A (p.Gly215Asp)
n.282+6774G>A
c.629G>A (p.Gly210Asp)
 ClinVar dbSNP
15g.67181358G>CCA392956244SMAD3c.191G>C (p.Gly64Ala)
c.461G>C (p.Gly154Ala)
c.776G>C (p.Gly259Ala)
n.479G>C
c.644G>C (p.Gly215Ala)
n.282+6774G>C
c.629G>C (p.Gly210Ala)
15g.67181358G=CA2184414799SMAD3c.191G= (p.Gly64=)
c.461G= (p.Gly154=)
c.776G= (p.Gly259=)
n.479G=
c.644G= (p.Gly215=)
n.282+6774G=
c.629G= (p.Gly210=)
15g.67181358G>TCA392956243SMAD3c.191G>T (p.Gly64Val)
c.461G>T (p.Gly154Val)
c.776G>T (p.Gly259Val)
n.479G>T
c.644G>T (p.Gly215Val)
n.282+6774G>T
c.629G>T (p.Gly210Val)
15g.67181359C>ACA490915326SMAD3c.192C>A (p.Gly64=)
c.462C>A (p.Gly154=)
c.777C>A (p.Gly259=)
n.480C>A
c.645C>A (p.Gly215=)
n.282+6775C>A
c.630C>A (p.Gly210=)
15g.67181359C=CA2184414803SMAD3c.192C= (p.Gly64=)
c.462C= (p.Gly154=)
c.777C= (p.Gly259=)
n.480C=
c.645C= (p.Gly215=)
n.282+6775C=
c.630C= (p.Gly210=)
15g.67181359C>GCA490915329SMAD3c.192C>G (p.Gly64=)
c.462C>G (p.Gly154=)
c.777C>G (p.Gly259=)
n.480C>G
c.645C>G (p.Gly215=)
n.282+6775C>G
c.630C>G (p.Gly210=)
15g.67181359C>TCA062662SMAD3c.192C>T (p.Gly64=)
c.462C>T (p.Gly154=)
c.777C>T (p.Gly259=)
n.480C>T
c.645C>T (p.Gly215=)
n.282+6775C>T
c.630C>T (p.Gly210=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.67181360T>ACA392956245SMAD3c.193T>A (p.Phe65Ile)
c.463T>A (p.Phe155Ile)
c.778T>A (p.Phe260Ile)
n.481T>A
c.646T>A (p.Phe216Ile)
n.282+6776T>A
c.631T>A (p.Phe211Ile)
15g.67181360T>CCA392956246SMAD3c.193T>C (p.Phe65Leu)
c.463T>C (p.Phe155Leu)
c.778T>C (p.Phe260Leu)
n.481T>C
c.646T>C (p.Phe216Leu)
n.282+6776T>C
c.631T>C (p.Phe211Leu)
15g.67181360T>GCA392956247SMAD3c.193T>G (p.Phe65Val)
c.463T>G (p.Phe155Val)
c.778T>G (p.Phe260Val)
n.481T>G
c.646T>G (p.Phe216Val)
n.282+6776T>G
c.631T>G (p.Phe211Val)
15g.67181361T>ACA392956248SMAD3c.194T>A (p.Phe65Tyr)
c.464T>A (p.Phe155Tyr)
c.779T>A (p.Phe260Tyr)
n.482T>A
c.647T>A (p.Phe216Tyr)
n.282+6777T>A
c.632T>A (p.Phe211Tyr)
15g.67181361T>CCA392956249SMAD3c.194T>C (p.Phe65Ser)
c.464T>C (p.Phe155Ser)
c.779T>C (p.Phe260Ser)
n.482T>C
c.647T>C (p.Phe216Ser)
n.282+6777T>C
c.632T>C (p.Phe211Ser)
15g.67181361T>GCA392956250SMAD3c.194T>G (p.Phe65Cys)
c.464T>G (p.Phe155Cys)
c.779T>G (p.Phe260Cys)
n.482T>G
c.647T>G (p.Phe216Cys)
n.282+6777T>G
c.632T>G (p.Phe211Cys)
15g.67181362C>ACA392956251SMAD3c.195C>A (p.Phe65Leu)
c.465C>A (p.Phe155Leu)
c.780C>A (p.Phe260Leu)
n.483C>A
c.648C>A (p.Phe216Leu)
n.282+6778C>A
c.633C>A (p.Phe211Leu)
15g.67181362C=CA2184414806SMAD3c.195C= (p.Phe65=)
c.465C= (p.Phe155=)
c.780C= (p.Phe260=)
n.483C=
c.648C= (p.Phe216=)
n.282+6778C=
c.633C= (p.Phe211=)
15g.67181362C>GCA392956252SMAD3c.195C>G (p.Phe65Leu)
c.465C>G (p.Phe155Leu)
c.780C>G (p.Phe260Leu)
n.483C>G
c.648C>G (p.Phe216Leu)
n.282+6778C>G
c.633C>G (p.Phe211Leu)
 ClinVar dbSNP
15g.67181362C>TCA490915354SMAD3c.195C>T (p.Phe65=)
c.465C>T (p.Phe155=)
c.780C>T (p.Phe260=)
n.483C>T
c.648C>T (p.Phe216=)
n.282+6778C>T
c.633C>T (p.Phe211=)
 dbSNP gnomAD v2
15g.67181363A=CA2184414810SMAD3c.196A= (p.Thr66=)
c.466A= (p.Thr156=)
c.781A= (p.Thr261=)
n.484A=
c.649A= (p.Thr217=)
n.282+6779A=
c.634A= (p.Thr212=)
15g.67181363A>CCA392956253SMAD3c.196A>C (p.Thr66Pro)
c.466A>C (p.Thr156Pro)
c.781A>C (p.Thr261Pro)
n.484A>C
c.649A>C (p.Thr217Pro)
n.282+6779A>C
c.634A>C (p.Thr212Pro)
15g.67181363A>GCA16614894SMAD3c.196A>G (p.Thr66Ala)
c.466A>G (p.Thr156Ala)
c.781A>G (p.Thr261Ala)
n.484A>G
c.649A>G (p.Thr217Ala)
n.282+6779A>G
c.634A>G (p.Thr212Ala)
 ClinVar dbSNP gnomAD v4
15g.67181363A>TCA392956254SMAD3c.196A>T (p.Thr66Ser)
c.466A>T (p.Thr156Ser)
c.781A>T (p.Thr261Ser)
n.484A>T
c.649A>T (p.Thr217Ser)
n.282+6779A>T
c.634A>T (p.Thr212Ser)
15g.67181364C>ACA392956255SMAD3c.197C>A (p.Thr66Asn)
c.467C>A (p.Thr156Asn)
c.782C>A (p.Thr261Asn)
n.485C>A
c.650C>A (p.Thr217Asn)
n.282+6780C>A
c.635C>A (p.Thr212Asn)
15g.67181364C=CA2184414814SMAD3c.197C= (p.Thr66=)
c.467C= (p.Thr156=)
c.782C= (p.Thr261=)
n.485C=
c.650C= (p.Thr217=)
n.282+6780C=
c.635C= (p.Thr212=)
15g.67181364C>GCA392956256SMAD3c.197C>G (p.Thr66Ser)
c.467C>G (p.Thr156Ser)
c.782C>G (p.Thr261Ser)
n.485C>G
c.650C>G (p.Thr217Ser)
n.282+6780C>G
c.635C>G (p.Thr212Ser)
15g.67181364C>TCA020109SMAD3c.197C>T (p.Thr66Ile)
c.467C>T (p.Thr156Ile)
c.782C>T (p.Thr261Ile)
n.485C>T
c.650C>T (p.Thr217Ile)
n.282+6780C>T
c.635C>T (p.Thr212Ile)
 ClinVar dbSNP COSMIC
15g.67181365delCA2580089888SMAD3c.198del (p.Asp67ThrfsTer10)
c.468del (p.Asp157ThrfsTer10)
c.783del (p.Asp262ThrfsTer10)
n.486del
c.651del (p.Asp218ThrfsTer10)
n.282+6781del
c.636del (p.Asp213ThrfsTer10)
 ClinVar
15g.67181365C>ACA490915358SMAD3c.198C>A (p.Thr66=)
c.468C>A (p.Thr156=)
c.783C>A (p.Thr261=)
n.486C>A
c.651C>A (p.Thr217=)
n.282+6781C>A
c.636C>A (p.Thr212=)
15g.67181365C=CA2184414820SMAD3c.198C= (p.Thr66=)
c.468C= (p.Thr156=)
c.783C= (p.Thr261=)
n.486C=
c.651C= (p.Thr217=)
n.282+6781C=
c.636C= (p.Thr212=)
15g.67181365C>GCA490915360SMAD3c.198C>G (p.Thr66=)
c.468C>G (p.Thr156=)
c.783C>G (p.Thr261=)
n.486C>G
c.651C>G (p.Thr217=)
n.282+6781C>G
c.636C>G (p.Thr212=)
 gnomAD v4
15g.67181365C>TCA062665SMAD3c.198C>T (p.Thr66=)
c.468C>T (p.Thr156=)
c.783C>T (p.Thr261=)
n.486C>T
c.651C>T (p.Thr217=)
n.282+6781C>T
c.636C>T (p.Thr212=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.67181365_67181380delinsCGACCCCTCCAATTCGCA2184414822SMAD3c.198_213delinsCGACCCCTCCAATTCG (p.Thr66=)
c.468_483delinsCGACCCCTCCAATTCG (p.Thr156=)
c.783_798delinsCGACCCCTCCAATTCG (p.Thr261=)
n.486_501delinsCGACCCCTCCAATTCG
c.651_666delinsCGACCCCTCCAATTCG (p.Thr217=)
n.282+6781_282+6796delinsCGACCCCTCCAATTCG
c.636_651delinsCGACCCCTCCAATTCG (p.Thr212=)
15g.67181366G>ACA392956258SMAD3c.199G>A (p.Asp67Asn)
c.469G>A (p.Asp157Asn)
c.784G>A (p.Asp262Asn)
n.487G>A
c.652G>A (p.Asp218Asn)
n.282+6782G>A
c.637G>A (p.Asp213Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
15g.67181366G>CCA392956257SMAD3c.199G>C (p.Asp67His)
c.469G>C (p.Asp157His)
c.784G>C (p.Asp262His)
n.487G>C
c.652G>C (p.Asp218His)
n.282+6782G>C
c.637G>C (p.Asp213His)
 gnomAD v4
15g.67181366G=CA2184414832SMAD3c.199G= (p.Asp67=)
c.469G= (p.Asp157=)
c.784G= (p.Asp262=)
n.487G=
c.652G= (p.Asp218=)
n.282+6782G=
c.637G= (p.Asp213=)
15g.67181366G>TCA392956259SMAD3c.199G>T (p.Asp67Tyr)
c.469G>T (p.Asp157Tyr)
c.784G>T (p.Asp262Tyr)
n.487G>T
c.652G>T (p.Asp218Tyr)
n.282+6782G>T
c.637G>T (p.Asp213Tyr)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
15g.67181368_67181382delCA320270SMAD3c.201_215del (p.Asp67_Ser71del)
c.471_485del (p.Asp157_Ser161del)
c.786_800del (p.Asp262_Ser266del)
n.489_503del
c.654_668del (p.Asp218_Ser222del)
n.282+6784_282+6798del
c.639_653del (p.Asp213_Ser217del)
 ClinVar dbSNP
15g.67181367A>CCA392956260SMAD3c.200A>C (p.Asp67Ala)
c.470A>C (p.Asp157Ala)
c.785A>C (p.Asp262Ala)
n.488A>C
c.653A>C (p.Asp218Ala)
n.282+6783A>C
c.638A>C (p.Asp213Ala)
15g.67181367A>GCA392956261SMAD3c.200A>G (p.Asp67Gly)
c.470A>G (p.Asp157Gly)
c.785A>G (p.Asp262Gly)
n.488A>G
c.653A>G (p.Asp218Gly)
n.282+6783A>G
c.638A>G (p.Asp213Gly)
15g.67181367A>TCA392956262SMAD3c.200A>T (p.Asp67Val)
c.470A>T (p.Asp157Val)
c.785A>T (p.Asp262Val)
n.488A>T
c.653A>T (p.Asp218Val)
n.282+6783A>T
c.638A>T (p.Asp213Val)
 ClinVar dbSNP
15g.67181367_67181368delinsACCA2184414835SMAD3c.200_201delinsAC (p.Asp67=)
c.470_471delinsAC (p.Asp157=)
c.785_786delinsAC (p.Asp262=)
n.488_489delinsAC
c.653_654delinsAC (p.Asp218=)
n.282+6783_282+6784delinsAC
c.638_639delinsAC (p.Asp213=)
15g.67181368C>ACA392956263SMAD3c.201C>A (p.Asp67Glu)
c.471C>A (p.Asp157Glu)
c.786C>A (p.Asp262Glu)
n.489C>A
c.654C>A (p.Asp218Glu)
n.282+6784C>A
c.639C>A (p.Asp213Glu)
15g.67181368C>GCA392956264SMAD3c.201C>G (p.Asp67Glu)
c.471C>G (p.Asp157Glu)
c.786C>G (p.Asp262Glu)
n.489C>G
c.654C>G (p.Asp218Glu)
n.282+6784C>G
c.639C>G (p.Asp213Glu)
15g.67181368C>TCA490915374SMAD3c.201C>T (p.Asp67=)
c.471C>T (p.Asp157=)
c.786C>T (p.Asp262=)
n.489C>T
c.654C>T (p.Asp218=)
n.282+6784C>T
c.639C>T (p.Asp213=)
15g.67181371delCA916083432SMAD3c.204del (p.Ser69ProfsTer8)
c.474del (p.Ser159ProfsTer8)
c.789del (p.Ser264ProfsTer8)
n.492del
c.657del (p.Ser220ProfsTer8)
n.282+6787del
c.642del (p.Ser215ProfsTer8)
 ClinVar dbSNP
15g.67181369C>ACA392956265SMAD3c.202C>A (p.Pro68Thr)
c.472C>A (p.Pro158Thr)
c.787C>A (p.Pro263Thr)
n.490C>A
c.655C>A (p.Pro219Thr)
n.282+6785C>A
c.640C>A (p.Pro214Thr)
15g.67181369C=CA2184414841SMAD3c.202C= (p.Pro68=)
c.472C= (p.Pro158=)
c.787C= (p.Pro263=)
n.490C=
c.655C= (p.Pro219=)
n.282+6785C=
c.640C= (p.Pro214=)
15g.67181369C>GCA321192SMAD3c.202C>G (p.Pro68Ala)
c.472C>G (p.Pro158Ala)
c.787C>G (p.Pro263Ala)
n.490C>G
c.655C>G (p.Pro219Ala)
n.282+6785C>G
c.640C>G (p.Pro214Ala)
 ClinVar dbSNP
15g.67181369C>TCA392956266SMAD3c.202C>T (p.Pro68Ser)
c.472C>T (p.Pro158Ser)
c.787C>T (p.Pro263Ser)
n.490C>T
c.655C>T (p.Pro219Ser)
n.282+6785C>T
c.640C>T (p.Pro214Ser)
 ClinVar dbSNP
15g.67181370C>ACA392956267SMAD3c.203C>A (p.Pro68His)
c.473C>A (p.Pro158His)
c.788C>A (p.Pro263His)
n.491C>A
c.656C>A (p.Pro219His)
n.282+6786C>A
c.641C>A (p.Pro214His)
15g.67181370C=CA2184414850SMAD3c.203C= (p.Pro68=)
c.473C= (p.Pro158=)
c.788C= (p.Pro263=)
n.491C=
c.656C= (p.Pro219=)
n.282+6786C=
c.641C= (p.Pro214=)
15g.67181370C>GCA323542SMAD3c.203C>G (p.Pro68Arg)
c.473C>G (p.Pro158Arg)
c.788C>G (p.Pro263Arg)
n.491C>G
c.656C>G (p.Pro219Arg)
n.282+6786C>G
c.641C>G (p.Pro214Arg)
 ClinVar dbSNP
15g.67181370C>TCA020114SMAD3c.203C>T (p.Pro68Leu)
c.473C>T (p.Pro158Leu)
c.788C>T (p.Pro263Leu)
n.491C>T
c.656C>T (p.Pro219Leu)
n.282+6786C>T
c.641C>T (p.Pro214Leu)
 ClinVar dbSNP COSMIC COSMIC
15g.67181372_67181374dupCA2573151102SMAD3c.205_207dup (p.Ser69_Asn70insSer)
c.475_477dup (p.Ser159_Asn160insSer)
c.790_792dup (p.Ser264_Asn265insSer)
n.493_495dup
c.658_660dup (p.Ser220_Asn221insSer)
n.282+6788_282+6790dup
c.643_645dup (p.Ser215_Asn216insSer)
 ClinVar dbSNP
15g.67181371C>ACA490915385SMAD3c.204C>A (p.Pro68=)
c.474C>A (p.Pro158=)
c.789C>A (p.Pro263=)
n.492C>A
c.657C>A (p.Pro219=)
n.282+6787C>A
c.642C>A (p.Pro214=)
15g.67181371C=CA2184414856SMAD3c.204C= (p.Pro68=)
c.474C= (p.Pro158=)
c.789C= (p.Pro263=)
n.492C=
c.657C= (p.Pro219=)
n.282+6787C=
c.642C= (p.Pro214=)
15g.67181371C>GCA490915387SMAD3c.204C>G (p.Pro68=)
c.474C>G (p.Pro158=)
c.789C>G (p.Pro263=)
n.492C>G
c.657C>G (p.Pro219=)
n.282+6787C>G
c.642C>G (p.Pro214=)
15g.67181371C>TCA490915389SMAD3c.204C>T (p.Pro68=)
c.474C>T (p.Pro158=)
c.789C>T (p.Pro263=)
n.492C>T
c.657C>T (p.Pro219=)
n.282+6787C>T
c.642C>T (p.Pro214=)
 ClinVar dbSNP
15g.67181372T>ACA392956270SMAD3c.205T>A (p.Ser69Thr)
c.475T>A (p.Ser159Thr)
c.790T>A (p.Ser264Thr)
n.493T>A
c.658T>A (p.Ser220Thr)
n.282+6788T>A
c.643T>A (p.Ser215Thr)
15g.67181372T>CCA392956268SMAD3c.205T>C (p.Ser69Pro)
c.475T>C (p.Ser159Pro)
c.790T>C (p.Ser264Pro)
n.493T>C
c.658T>C (p.Ser220Pro)
n.282+6788T>C
c.643T>C (p.Ser215Pro)
 COSMIC COSMIC
15g.67181372T>GCA392956269SMAD3c.205T>G (p.Ser69Ala)
c.475T>G (p.Ser159Ala)
c.790T>G (p.Ser264Ala)
n.493T>G
c.658T>G (p.Ser220Ala)
n.282+6788T>G
c.643T>G (p.Ser215Ala)
15g.67181373C>ACA392956271SMAD3c.206C>A (p.Ser69Tyr)
c.476C>A (p.Ser159Tyr)
c.791C>A (p.Ser264Tyr)
n.494C>A
c.659C>A (p.Ser220Tyr)
n.282+6789C>A
c.644C>A (p.Ser215Tyr)
15g.67181373C>GCA392956272SMAD3c.206C>G (p.Ser69Cys)
c.476C>G (p.Ser159Cys)
c.791C>G (p.Ser264Cys)
n.494C>G
c.659C>G (p.Ser220Cys)
n.282+6789C>G
c.644C>G (p.Ser215Cys)
15g.67181373C>TCA392956273SMAD3c.206C>T (p.Ser69Phe)
c.476C>T (p.Ser159Phe)
c.791C>T (p.Ser264Phe)
n.494C>T
c.659C>T (p.Ser220Phe)
n.282+6789C>T
c.644C>T (p.Ser215Phe)
15g.67181374C>ACA490915415SMAD3c.207C>A (p.Ser69=)
c.477C>A (p.Ser159=)
c.792C>A (p.Ser264=)
n.495C>A
c.660C>A (p.Ser220=)
n.282+6790C>A
c.645C>A (p.Ser215=)
15g.67181374C=CA2184414858SMAD3c.207C= (p.Ser69=)
c.477C= (p.Ser159=)
c.792C= (p.Ser264=)
n.495C=
c.660C= (p.Ser220=)
n.282+6790C=
c.645C= (p.Ser215=)
15g.67181374C>GCA490915417SMAD3c.207C>G (p.Ser69=)
c.477C>G (p.Ser159=)
c.792C>G (p.Ser264=)
n.495C>G
c.660C>G (p.Ser220=)
n.282+6790C>G
c.645C>G (p.Ser215=)
15g.67181374C>TCA062671SMAD3c.207C>T (p.Ser69=)
c.477C>T (p.Ser159=)
c.792C>T (p.Ser264=)
n.495C>T
c.660C>T (p.Ser220=)
n.282+6790C>T
c.645C>T (p.Ser215=)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.67181375A=CA2184414861SMAD3c.208A= (p.Asn70=)
c.478A= (p.Asn160=)
c.793A= (p.Asn265=)
n.496A=
c.661A= (p.Asn221=)
n.282+6791A=
c.646A= (p.Asn216=)
15g.67181375A>CCA392956274SMAD3c.208A>C (p.Asn70His)
c.478A>C (p.Asn160His)
c.793A>C (p.Asn265His)
n.496A>C
c.661A>C (p.Asn221His)
n.282+6791A>C
c.646A>C (p.Asn216His)
15g.67181375A>GCA392956275SMAD3c.208A>G (p.Asn70Asp)
c.478A>G (p.Asn160Asp)
c.793A>G (p.Asn265Asp)
n.496A>G
c.661A>G (p.Asn221Asp)
n.282+6791A>G
c.646A>G (p.Asn216Asp)
15g.67181375A>TCA392956276SMAD3c.208A>T (p.Asn70Tyr)
c.478A>T (p.Asn160Tyr)
c.793A>T (p.Asn265Tyr)
n.496A>T
c.661A>T (p.Asn221Tyr)
n.282+6791A>T
c.646A>T (p.Asn216Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.67181376A>CCA392956277SMAD3c.209A>C (p.Asn70Thr)
c.479A>C (p.Asn160Thr)
c.794A>C (p.Asn265Thr)
n.497A>C
c.662A>C (p.Asn221Thr)
n.282+6792A>C
c.647A>C (p.Asn216Thr)
15g.67181376A>GCA392956278SMAD3c.209A>G (p.Asn70Ser)
c.479A>G (p.Asn160Ser)
c.794A>G (p.Asn265Ser)
n.497A>G
c.662A>G (p.Asn221Ser)
n.282+6792A>G
c.647A>G (p.Asn216Ser)
15g.67181376A>TCA392956279SMAD3c.209A>T (p.Asn70Ile)
c.479A>T (p.Asn160Ile)
c.794A>T (p.Asn265Ile)
n.497A>T
c.662A>T (p.Asn221Ile)
n.282+6792A>T
c.647A>T (p.Asn216Ile)
15g.67181377T>ACA392956280SMAD3c.210T>A (p.Asn70Lys)
c.480T>A (p.Asn160Lys)
c.795T>A (p.Asn265Lys)
n.498T>A
c.663T>A (p.Asn221Lys)
n.282+6793T>A
c.648T>A (p.Asn216Lys)
15g.67181377T>CCA490915435SMAD3c.210T>C (p.Asn70=)
c.480T>C (p.Asn160=)
c.795T>C (p.Asn265=)
n.498T>C
c.663T>C (p.Asn221=)
n.282+6793T>C
c.648T>C (p.Asn216=)
 gnomAD v4
15g.67181377T>GCA392956281SMAD3c.210T>G (p.Asn70Lys)
c.480T>G (p.Asn160Lys)
c.795T>G (p.Asn265Lys)
n.498T>G
c.663T>G (p.Asn221Lys)
n.282+6793T>G
c.648T>G (p.Asn216Lys)
15g.67181378T>ACA392956282SMAD3c.211T>A (p.Ser71Thr)
c.481T>A (p.Ser161Thr)
c.796T>A (p.Ser266Thr)
n.499T>A
c.664T>A (p.Ser222Thr)
n.282+6794T>A
c.649T>A (p.Ser217Thr)
15g.67181378T>CCA392956284SMAD3c.211T>C (p.Ser71Pro)
c.481T>C (p.Ser161Pro)
c.796T>C (p.Ser266Pro)
n.499T>C
c.664T>C (p.Ser222Pro)
n.282+6794T>C
c.649T>C (p.Ser217Pro)
15g.67181378T>GCA392956283SMAD3c.211T>G (p.Ser71Ala)
c.481T>G (p.Ser161Ala)
c.796T>G (p.Ser266Ala)
n.499T>G
c.664T>G (p.Ser222Ala)
n.282+6794T>G
c.649T>G (p.Ser217Ala)
15g.67181379C>ACA16614549SMAD3c.212C>A (p.Ser71Ter)
c.482C>A (p.Ser161Ter)
c.797C>A (p.Ser266Ter)
n.500C>A
c.665C>A (p.Ser222Ter)
n.282+6795C>A
c.650C>A (p.Ser217Ter)
 ClinVar dbSNP
15g.67181379C=CA2184414864SMAD3c.212C= (p.Ser71=)
c.482C= (p.Ser161=)
c.797C= (p.Ser266=)
n.500C=
c.665C= (p.Ser222=)
n.282+6795C=
c.650C= (p.Ser217=)
15g.67181379C>GCA392956285SMAD3c.212C>G (p.Ser71Trp)
c.482C>G (p.Ser161Trp)
c.797C>G (p.Ser266Trp)
n.500C>G
c.665C>G (p.Ser222Trp)
n.282+6795C>G
c.650C>G (p.Ser217Trp)
15g.67181379C>TCA062675SMAD3c.212C>T (p.Ser71Leu)
c.482C>T (p.Ser161Leu)
c.797C>T (p.Ser266Leu)
n.500C>T
c.665C>T (p.Ser222Leu)
n.282+6795C>T
c.650C>T (p.Ser217Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
15g.67181380G>ACA062681SMAD3c.213G>A (p.Ser71=)
c.483G>A (p.Ser161=)
c.798G>A (p.Ser266=)
n.501G>A
c.666G>A (p.Ser222=)
n.282+6796G>A
c.651G>A (p.Ser217=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.67181380G>CCA490915456SMAD3c.213G>C (p.Ser71=)
c.483G>C (p.Ser161=)
c.798G>C (p.Ser266=)
n.501G>C
c.666G>C (p.Ser222=)
n.282+6796G>C
c.651G>C (p.Ser217=)
15g.67181380G=CA2184414871SMAD3c.213G= (p.Ser71=)
c.483G= (p.Ser161=)
c.798G= (p.Ser266=)
n.501G=
c.666G= (p.Ser222=)
n.282+6796G=
c.651G= (p.Ser217=)
15g.67181380G>TCA272391085SMAD3c.213G>T (p.Ser71=)
c.483G>T (p.Ser161=)
c.798G>T (p.Ser266=)
n.501G>T
c.666G>T (p.Ser222=)
n.282+6796G>T
c.651G>T (p.Ser217=)
 dbSNP gnomAD v4
15g.67181381G>ACA392956286SMAD3c.214G>A (p.Glu72Lys)
c.484G>A (p.Glu162Lys)
c.799G>A (p.Glu267Lys)
n.502G>A
c.667G>A (p.Glu223Lys)
n.282+6797G>A
c.652G>A (p.Glu218Lys)
15g.67181381G>CCA392956287SMAD3c.214G>C (p.Glu72Gln)
c.484G>C (p.Glu162Gln)
c.799G>C (p.Glu267Gln)
n.502G>C
c.667G>C (p.Glu223Gln)
n.282+6797G>C
c.652G>C (p.Glu218Gln)
15g.67181381G>TCA392956288SMAD3c.214G>T (p.Glu72Ter)
c.484G>T (p.Glu162Ter)
c.799G>T (p.Glu267Ter)
n.502G>T
c.667G>T (p.Glu223Ter)
n.282+6797G>T
c.652G>T (p.Glu218Ter)
15g.67181382A>CCA392956289SMAD3c.215A>C (p.Glu72Ala)
c.485A>C (p.Glu162Ala)
c.800A>C (p.Glu267Ala)
n.503A>C
c.668A>C (p.Glu223Ala)
n.282+6798A>C
c.653A>C (p.Glu218Ala)
15g.67181382A>GCA392956290SMAD3c.215A>G (p.Glu72Gly)
c.485A>G (p.Glu162Gly)
c.800A>G (p.Glu267Gly)
n.503A>G
c.668A>G (p.Glu223Gly)
n.282+6798A>G
c.653A>G (p.Glu218Gly)
 dbSNP
15g.67181382A>TCA392956291SMAD3c.215A>T (p.Glu72Val)
c.485A>T (p.Glu162Val)
c.800A>T (p.Glu267Val)
n.503A>T
c.668A>T (p.Glu223Val)
n.282+6798A>T
c.653A>T (p.Glu218Val)
15g.67181383G>ACA062689SMAD3c.216G>A (p.Glu72=)
c.486G>A (p.Glu162=)
c.801G>A (p.Glu267=)
n.504G>A
c.669G>A (p.Glu223=)
n.282+6799G>A
c.654G>A (p.Glu218=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.67181383G>CCA392956293SMAD3c.216G>C (p.Glu72Asp)
c.486G>C (p.Glu162Asp)
c.801G>C (p.Glu267Asp)
n.504G>C
c.669G>C (p.Glu223Asp)
n.282+6799G>C
c.654G>C (p.Glu218Asp)
15g.67181383G=CA2184414880SMAD3c.216G= (p.Glu72=)
c.486G= (p.Glu162=)
c.801G= (p.Glu267=)
n.504G=
c.669G= (p.Glu223=)
n.282+6799G=
c.654G= (p.Glu218=)
15g.67181383G>TCA392956292SMAD3c.216G>T (p.Glu72Asp)
c.486G>T (p.Glu162Asp)
c.801G>T (p.Glu267Asp)
n.504G>T
c.669G>T (p.Glu223Asp)
n.282+6799G>T
c.654G>T (p.Glu218Asp)
15g.67181383_67181384delinsGCCA2184414878SMAD3c.216_217delinsGC (p.Glu72=)
c.486_487delinsGC (p.Glu162=)
c.801_802delinsGC (p.Glu267=)
n.504_505delinsGC
c.669_670delinsGC (p.Glu223=)
n.282+6799_282+6800delinsGC
c.654_655delinsGC (p.Glu218=)
15g.67181383_67181384delinsTTCA658656497SMAD3c.216_217delinsTT (p.Glu72_Arg73delinsAspCys)
c.486_487delinsTT (p.Glu162_Arg163delinsAspCys)
c.801_802delinsTT (p.Glu267_Arg268delinsAspCys)
n.504_505delinsTT
c.669_670delinsTT (p.Glu223_Arg224delinsAspCys)
n.282+6799_282+6800delinsTT
c.654_655delinsTT (p.Glu218_Arg219delinsAspCys)
 ClinVar dbSNP
15g.67181384C>ACA392956294SMAD3c.217C>A (p.Arg73Ser)
c.487C>A (p.Arg163Ser)
c.802C>A (p.Arg268Ser)
n.505C>A
c.670C>A (p.Arg224Ser)
n.282+6800C>A
c.655C>A (p.Arg219Ser)
15g.67181384C=CA2184414881SMAD3c.217C= (p.Arg73=)
c.487C= (p.Arg163=)
c.802C= (p.Arg268=)
n.505C=
c.670C= (p.Arg224=)
n.282+6800C=
c.655C= (p.Arg219=)
15g.67181384C>GCA392956295SMAD3c.217C>G (p.Arg73Gly)
c.487C>G (p.Arg163Gly)
c.802C>G (p.Arg268Gly)
n.505C>G
c.670C>G (p.Arg224Gly)
n.282+6800C>G
c.655C>G (p.Arg219Gly)
15g.67181384C>TCA020119SMAD3c.217C>T (p.Arg73Cys)
c.487C>T (p.Arg163Cys)
c.802C>T (p.Arg268Cys)
n.505C>T
c.670C>T (p.Arg224Cys)
n.282+6800C>T
c.655C>T (p.Arg219Cys)
 ClinVar dbSNP COSMIC COSMIC
15g.67181385G>ACA321807SMAD3c.218G>A (p.Arg73His)
c.488G>A (p.Arg163His)
c.803G>A (p.Arg268His)
n.506G>A
c.671G>A (p.Arg224His)
n.282+6801G>A
c.656G>A (p.Arg219His)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
15g.67181385G>CCA392956296SMAD3c.218G>C (p.Arg73Pro)
c.488G>C (p.Arg163Pro)
c.803G>C (p.Arg268Pro)
n.506G>C
c.671G>C (p.Arg224Pro)
n.282+6801G>C
c.656G>C (p.Arg219Pro)
15g.67181385G=CA2184414882SMAD3c.218G= (p.Arg73=)
c.488G= (p.Arg163=)
c.803G= (p.Arg268=)
n.506G=
c.671G= (p.Arg224=)
n.282+6801G=
c.656G= (p.Arg219=)
15g.67181385G>TCA392956297SMAD3c.218G>T (p.Arg73Leu)
c.488G>T (p.Arg163Leu)
c.803G>T (p.Arg268Leu)
n.506G>T
c.671G>T (p.Arg224Leu)
n.282+6801G>T
c.656G>T (p.Arg219Leu)

Number of alleles fetched