Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.67187372C>ACA392958062SMAD3c.432C>A (p.Asn144Lys)
c.702C>A (p.Asn234Lys)
c.1128C>A (p.Asn376Lys)
c.1017C>A (p.Asn339Lys)
n.720C>A
c.885C>A (p.Asn295Lys)
n.711C>A
c.564C>A (p.Asn188Lys)
n.283-5501C>A
c.209C>A
c.870C>A (p.Asn290Lys)
15g.67187372C=CA2184420904SMAD3c.432C= (p.Asn144=)
c.702C= (p.Asn234=)
c.1128C= (p.Asn376=)
c.1017C= (p.Asn339=)
n.720C=
c.885C= (p.Asn295=)
n.711C=
c.564C= (p.Asn188=)
n.283-5501C=
c.209C=
c.870C= (p.Asn290=)
15g.67187372C>GCA392958063SMAD3c.432C>G (p.Asn144Lys)
c.702C>G (p.Asn234Lys)
c.1128C>G (p.Asn376Lys)
c.1017C>G (p.Asn339Lys)
n.720C>G
c.885C>G (p.Asn295Lys)
n.711C>G
c.564C>G (p.Asn188Lys)
n.283-5501C>G
c.209C>G
c.870C>G (p.Asn290Lys)
 gnomAD v4
15g.67187372C>TCA490917387SMAD3c.432C>T (p.Asn144=)
c.702C>T (p.Asn234=)
c.1128C>T (p.Asn376=)
c.1017C>T (p.Asn339=)
n.720C>T
c.885C>T (p.Asn295=)
n.711C>T
c.564C>T (p.Asn188=)
n.283-5501C>T
c.209C>T
c.870C>T (p.Asn290=)
 ClinVar dbSNP
15g.67187373C>ACA392958064SMAD3c.433C>A (p.Leu145Met)
c.703C>A (p.Leu235Met)
c.1129C>A (p.Leu377Met)
c.1018C>A (p.Leu340Met)
n.721C>A
c.886C>A (p.Leu296Met)
n.712C>A
c.565C>A (p.Leu189Met)
n.283-5500C>A
c.210C>A
c.871C>A (p.Leu291Met)
15g.67187373C>GCA392958065SMAD3c.433C>G (p.Leu145Val)
c.703C>G (p.Leu235Val)
c.1129C>G (p.Leu377Val)
c.1018C>G (p.Leu340Val)
n.721C>G
c.886C>G (p.Leu296Val)
n.712C>G
c.565C>G (p.Leu189Val)
n.283-5500C>G
c.210C>G
c.871C>G (p.Leu291Val)
15g.67187373C>TCA490917397SMAD3c.433C>T (p.Leu145=)
c.703C>T (p.Leu235=)
c.1129C>T (p.Leu377=)
c.1018C>T (p.Leu340=)
n.721C>T
c.886C>T (p.Leu296=)
n.712C>T
c.565C>T (p.Leu189=)
n.283-5500C>T
c.210C>T
c.871C>T (p.Leu291=)
 ClinVar gnomAD v4
15g.67187374T>ACA392958066SMAD3c.434T>A (p.Leu145Gln)
c.704T>A (p.Leu235Gln)
c.1130T>A (p.Leu377Gln)
c.1019T>A (p.Leu340Gln)
n.722T>A
c.887T>A (p.Leu296Gln)
n.713T>A
c.566T>A (p.Leu189Gln)
n.283-5499T>A
c.211T>A
c.872T>A (p.Leu291Gln)
15g.67187374T>CCA392958067SMAD3c.434T>C (p.Leu145Pro)
c.704T>C (p.Leu235Pro)
c.1130T>C (p.Leu377Pro)
c.1019T>C (p.Leu340Pro)
n.722T>C
c.887T>C (p.Leu296Pro)
n.713T>C
c.566T>C (p.Leu189Pro)
n.283-5499T>C
c.211T>C
c.872T>C (p.Leu291Pro)
 ClinVar dbSNP COSMIC COSMIC
15g.67187374T>GCA392958068SMAD3c.434T>G (p.Leu145Arg)
c.704T>G (p.Leu235Arg)
c.1130T>G (p.Leu377Arg)
c.1019T>G (p.Leu340Arg)
n.722T>G
c.887T>G (p.Leu296Arg)
n.713T>G
c.566T>G (p.Leu189Arg)
n.283-5499T>G
c.211T>G
c.872T>G (p.Leu291Arg)
15g.67187375G>ACA490917404SMAD3c.435G>A (p.Leu145=)
c.705G>A (p.Leu235=)
c.1131G>A (p.Leu377=)
c.1020G>A (p.Leu340=)
n.723G>A
c.888G>A (p.Leu296=)
n.714G>A
c.567G>A (p.Leu189=)
n.283-5498G>A
c.212G>A
c.873G>A (p.Leu291=)
 ClinVar dbSNP gnomAD v4
15g.67187375G>CCA490917403SMAD3c.435G>C (p.Leu145=)
c.705G>C (p.Leu235=)
c.1131G>C (p.Leu377=)
c.1020G>C (p.Leu340=)
n.723G>C
c.888G>C (p.Leu296=)
n.714G>C
c.567G>C (p.Leu189=)
n.283-5498G>C
c.212G>C
c.873G>C (p.Leu291=)
 dbSNP
15g.67187375G=CA2184420905SMAD3c.435G= (p.Leu145=)
c.705G= (p.Leu235=)
c.1131G= (p.Leu377=)
c.1020G= (p.Leu340=)
n.723G=
c.888G= (p.Leu296=)
n.714G=
c.567G= (p.Leu189=)
n.283-5498G=
c.212G=
c.873G= (p.Leu291=)
15g.67187375G>TCA490917400SMAD3c.435G>T (p.Leu145=)
c.705G>T (p.Leu235=)
c.1131G>T (p.Leu377=)
c.1020G>T (p.Leu340=)
n.723G>T
c.888G>T (p.Leu296=)
n.714G>T
c.567G>T (p.Leu189=)
n.283-5498G>T
c.212G>T
c.873G>T (p.Leu291=)
15g.67187376A>CCA392958069SMAD3c.436A>C (p.Lys146Gln)
c.706A>C (p.Lys236Gln)
c.1132A>C (p.Lys378Gln)
c.1021A>C (p.Lys341Gln)
n.724A>C
c.889A>C (p.Lys297Gln)
n.715A>C
c.568A>C (p.Lys190Gln)
n.283-5497A>C
c.213A>C
c.874A>C (p.Lys292Gln)
15g.67187376A>GCA392958070SMAD3c.436A>G (p.Lys146Glu)
c.706A>G (p.Lys236Glu)
c.1132A>G (p.Lys378Glu)
c.1021A>G (p.Lys341Glu)
n.724A>G
c.889A>G (p.Lys297Glu)
n.715A>G
c.568A>G (p.Lys190Glu)
n.283-5497A>G
c.213A>G
c.874A>G (p.Lys292Glu)
15g.67187376A>TCA392958071SMAD3c.436A>T (p.Lys146Ter)
c.706A>T (p.Lys236Ter)
c.1132A>T (p.Lys378Ter)
c.1021A>T (p.Lys341Ter)
n.724A>T
c.889A>T (p.Lys297Ter)
n.715A>T
c.568A>T (p.Lys190Ter)
n.283-5497A>T
c.213A>T
c.874A>T (p.Lys292Ter)
15g.67187377A>CCA392958072SMAD3c.437A>C (p.Lys146Thr)
c.707A>C (p.Lys236Thr)
c.1133A>C (p.Lys378Thr)
c.1022A>C (p.Lys341Thr)
n.725A>C
c.890A>C (p.Lys297Thr)
n.716A>C
c.569A>C (p.Lys190Thr)
n.283-5496A>C
c.214A>C
c.875A>C (p.Lys292Thr)
 COSMIC COSMIC
15g.67187377A>GCA392958073SMAD3c.437A>G (p.Lys146Arg)
c.707A>G (p.Lys236Arg)
c.1133A>G (p.Lys378Arg)
c.1022A>G (p.Lys341Arg)
n.725A>G
c.890A>G (p.Lys297Arg)
n.716A>G
c.569A>G (p.Lys190Arg)
n.283-5496A>G
c.214A>G
c.875A>G (p.Lys292Arg)
15g.67187377A>TCA392958074SMAD3c.437A>T (p.Lys146Met)
c.707A>T (p.Lys236Met)
c.1133A>T (p.Lys378Met)
c.1022A>T (p.Lys341Met)
n.725A>T
c.890A>T (p.Lys297Met)
n.716A>T
c.569A>T (p.Lys190Met)
n.283-5496A>T
c.214A>T
c.875A>T (p.Lys292Met)
15g.67187378G>ACA490917415SMAD3c.438G>A (p.Lys146=)
c.708G>A (p.Lys236=)
c.1134G>A (p.Lys378=)
c.1023G>A (p.Lys341=)
n.726G>A
c.891G>A (p.Lys297=)
n.717G>A
c.570G>A (p.Lys190=)
n.283-5495G>A
c.215G>A
c.876G>A (p.Lys292=)
15g.67187378G>CCA392958076SMAD3c.438G>C (p.Lys146Asn)
c.708G>C (p.Lys236Asn)
c.1134G>C (p.Lys378Asn)
c.1023G>C (p.Lys341Asn)
n.726G>C
c.891G>C (p.Lys297Asn)
n.717G>C
c.570G>C (p.Lys190Asn)
n.283-5495G>C
c.215G>C
c.876G>C (p.Lys292Asn)
 COSMIC COSMIC
15g.67187378G=CA2184420906SMAD3c.438G= (p.Lys146=)
c.708G= (p.Lys236=)
c.1134G= (p.Lys378=)
c.1023G= (p.Lys341=)
n.726G=
c.891G= (p.Lys297=)
n.717G=
c.570G= (p.Lys190=)
n.283-5495G=
c.215G=
c.876G= (p.Lys292=)
15g.67187378G>TCA392958075SMAD3c.438G>T (p.Lys146Asn)
c.708G>T (p.Lys236Asn)
c.1134G>T (p.Lys378Asn)
c.1023G>T (p.Lys341Asn)
n.726G>T
c.891G>T (p.Lys297Asn)
n.717G>T
c.570G>T (p.Lys190Asn)
n.283-5495G>T
c.215G>T
c.876G>T (p.Lys292Asn)
 dbSNP gnomAD v3 gnomAD v4
15g.67187379A>CCA392958077SMAD3c.439A>C (p.Ile147Leu)
c.709A>C (p.Ile237Leu)
c.1135A>C (p.Ile379Leu)
c.1024A>C (p.Ile342Leu)
n.727A>C
c.892A>C (p.Ile298Leu)
n.718A>C
c.571A>C (p.Ile191Leu)
n.283-5494A>C
c.216A>C
c.877A>C (p.Ile293Leu)
15g.67187379A>GCA392958078SMAD3c.439A>G (p.Ile147Val)
c.709A>G (p.Ile237Val)
c.1135A>G (p.Ile379Val)
c.1024A>G (p.Ile342Val)
n.727A>G
c.892A>G (p.Ile298Val)
n.718A>G
c.571A>G (p.Ile191Val)
n.283-5494A>G
c.216A>G
c.877A>G (p.Ile293Val)
 gnomAD v4
15g.67187379A>TCA392958079SMAD3c.439A>T (p.Ile147Phe)
c.709A>T (p.Ile237Phe)
c.1135A>T (p.Ile379Phe)
c.1024A>T (p.Ile342Phe)
n.727A>T
c.892A>T (p.Ile298Phe)
n.718A>T
c.571A>T (p.Ile191Phe)
n.283-5494A>T
c.216A>T
c.877A>T (p.Ile293Phe)
 dbSNP COSMIC COSMIC
15g.67187380T>ACA392958080SMAD3c.440T>A (p.Ile147Asn)
c.710T>A (p.Ile237Asn)
c.1136T>A (p.Ile379Asn)
c.1025T>A (p.Ile342Asn)
n.728T>A
c.893T>A (p.Ile298Asn)
n.719T>A
c.572T>A (p.Ile191Asn)
n.283-5493T>A
c.217T>A
c.878T>A (p.Ile293Asn)
15g.67187380T>CCA392958081SMAD3c.440T>C (p.Ile147Thr)
c.710T>C (p.Ile237Thr)
c.1136T>C (p.Ile379Thr)
c.1025T>C (p.Ile342Thr)
n.728T>C
c.893T>C (p.Ile298Thr)
n.719T>C
c.572T>C (p.Ile191Thr)
n.283-5493T>C
c.217T>C
c.878T>C (p.Ile293Thr)
15g.67187380T>GCA392958082SMAD3c.440T>G (p.Ile147Ser)
c.710T>G (p.Ile237Ser)
c.1136T>G (p.Ile379Ser)
c.1025T>G (p.Ile342Ser)
n.728T>G
c.893T>G (p.Ile298Ser)
n.719T>G
c.572T>G (p.Ile191Ser)
n.283-5493T>G
c.217T>G
c.878T>G (p.Ile293Ser)
15g.67187381C>ACA490917428SMAD3c.441C>A (p.Ile147=)
c.711C>A (p.Ile237=)
c.1137C>A (p.Ile379=)
c.1026C>A (p.Ile342=)
n.729C>A
c.894C>A (p.Ile298=)
n.720C>A
c.573C>A (p.Ile191=)
n.283-5492C>A
c.218C>A
c.879C>A (p.Ile293=)
15g.67187381C=CA2184420907SMAD3c.441C= (p.Ile147=)
c.711C= (p.Ile237=)
c.1137C= (p.Ile379=)
c.1026C= (p.Ile342=)
n.729C=
c.894C= (p.Ile298=)
n.720C=
c.573C= (p.Ile191=)
n.283-5492C=
c.218C=
c.879C= (p.Ile293=)
15g.67187381C>GCA392958083SMAD3c.441C>G (p.Ile147Met)
c.711C>G (p.Ile237Met)
c.1137C>G (p.Ile379Met)
c.1026C>G (p.Ile342Met)
n.729C>G
c.894C>G (p.Ile298Met)
n.720C>G
c.573C>G (p.Ile191Met)
n.283-5492C>G
c.218C>G
c.879C>G (p.Ile293Met)
15g.67187381C>TCA490917429SMAD3c.441C>T (p.Ile147=)
c.711C>T (p.Ile237=)
c.1137C>T (p.Ile379=)
c.1026C>T (p.Ile342=)
n.729C>T
c.894C>T (p.Ile298=)
n.720C>T
c.573C>T (p.Ile191=)
n.283-5492C>T
c.218C>T
c.879C>T (p.Ile293=)
 ClinVar dbSNP
15g.67187382T>ACA392958084SMAD3c.442T>A (p.Phe148Ile)
c.712T>A (p.Phe238Ile)
c.1138T>A (p.Phe380Ile)
c.1027T>A (p.Phe343Ile)
n.730T>A
c.895T>A (p.Phe299Ile)
n.721T>A
c.574T>A (p.Phe192Ile)
n.283-5491T>A
c.219T>A
c.880T>A (p.Phe294Ile)
15g.67187382T>CCA392958085SMAD3c.442T>C (p.Phe148Leu)
c.712T>C (p.Phe238Leu)
c.1138T>C (p.Phe380Leu)
c.1027T>C (p.Phe343Leu)
n.730T>C
c.895T>C (p.Phe299Leu)
n.721T>C
c.574T>C (p.Phe192Leu)
n.283-5491T>C
c.219T>C
c.880T>C (p.Phe294Leu)
15g.67187382T>GCA392958086SMAD3c.442T>G (p.Phe148Val)
c.712T>G (p.Phe238Val)
c.1138T>G (p.Phe380Val)
c.1027T>G (p.Phe343Val)
n.730T>G
c.895T>G (p.Phe299Val)
n.721T>G
c.574T>G (p.Phe192Val)
n.283-5491T>G
c.219T>G
c.880T>G (p.Phe294Val)
15g.67187383T>ACA392958087SMAD3c.443T>A (p.Phe148Tyr)
c.713T>A (p.Phe238Tyr)
c.1139T>A (p.Phe380Tyr)
c.1028T>A (p.Phe343Tyr)
n.731T>A
c.896T>A (p.Phe299Tyr)
n.722T>A
c.575T>A (p.Phe192Tyr)
n.283-5490T>A
c.220T>A
c.881T>A (p.Phe294Tyr)
15g.67187383T>CCA392958088SMAD3c.443T>C (p.Phe148Ser)
c.713T>C (p.Phe238Ser)
c.1139T>C (p.Phe380Ser)
c.1028T>C (p.Phe343Ser)
n.731T>C
c.896T>C (p.Phe299Ser)
n.722T>C
c.575T>C (p.Phe192Ser)
n.283-5490T>C
c.220T>C
c.881T>C (p.Phe294Ser)
15g.67187383T>GCA392958089SMAD3c.443T>G (p.Phe148Cys)
c.713T>G (p.Phe238Cys)
c.1139T>G (p.Phe380Cys)
c.1028T>G (p.Phe343Cys)
n.731T>G
c.896T>G (p.Phe299Cys)
n.722T>G
c.575T>G (p.Phe192Cys)
n.283-5490T>G
c.220T>G
c.881T>G (p.Phe294Cys)
15g.67187384C>ACA392958090SMAD3c.444C>A (p.Phe148Leu)
c.714C>A (p.Phe238Leu)
c.1140C>A (p.Phe380Leu)
c.1029C>A (p.Phe343Leu)
n.732C>A
c.897C>A (p.Phe299Leu)
n.723C>A
c.576C>A (p.Phe192Leu)
n.283-5489C>A
c.221C>A
c.882C>A (p.Phe294Leu)
15g.67187384C>GCA392958091SMAD3c.444C>G (p.Phe148Leu)
c.714C>G (p.Phe238Leu)
c.1140C>G (p.Phe380Leu)
c.1029C>G (p.Phe343Leu)
n.732C>G
c.897C>G (p.Phe299Leu)
n.723C>G
c.576C>G (p.Phe192Leu)
n.283-5489C>G
c.221C>G
c.882C>G (p.Phe294Leu)
 ClinVar dbSNP
15g.67187384C>TCA490917441SMAD3c.444C>T (p.Phe148=)
c.714C>T (p.Phe238=)
c.1140C>T (p.Phe380=)
c.1029C>T (p.Phe343=)
n.732C>T
c.897C>T (p.Phe299=)
n.723C>T
c.576C>T (p.Phe192=)
n.283-5489C>T
c.221C>T
c.882C>T (p.Phe294=)
15g.67187385A>CCA392958092SMAD3c.445A>C (p.Asn149His)
c.715A>C (p.Asn239His)
c.1141A>C (p.Asn381His)
c.1030A>C (p.Asn344His)
n.733A>C
c.898A>C (p.Asn300His)
n.724A>C
c.577A>C (p.Asn193His)
n.283-5488A>C
c.222A>C
c.883A>C (p.Asn295His)
15g.67187385A>GCA392958094SMAD3c.445A>G (p.Asn149Asp)
c.715A>G (p.Asn239Asp)
c.1141A>G (p.Asn381Asp)
c.1030A>G (p.Asn344Asp)
n.733A>G
c.898A>G (p.Asn300Asp)
n.724A>G
c.577A>G (p.Asn193Asp)
n.283-5488A>G
c.222A>G
c.883A>G (p.Asn295Asp)
15g.67187385A>TCA392958093SMAD3c.445A>T (p.Asn149Tyr)
c.715A>T (p.Asn239Tyr)
c.1141A>T (p.Asn381Tyr)
c.1030A>T (p.Asn344Tyr)
n.733A>T
c.898A>T (p.Asn300Tyr)
n.724A>T
c.577A>T (p.Asn193Tyr)
n.283-5488A>T
c.222A>T
c.883A>T (p.Asn295Tyr)
15g.67187386A>CCA392958095SMAD3c.446A>C (p.Asn149Thr)
c.716A>C (p.Asn239Thr)
c.1142A>C (p.Asn381Thr)
c.1031A>C (p.Asn344Thr)
n.734A>C
c.899A>C (p.Asn300Thr)
n.725A>C
c.578A>C (p.Asn193Thr)
n.283-5487A>C
c.223A>C
c.884A>C (p.Asn295Thr)
15g.67187386A>GCA392958096SMAD3c.446A>G (p.Asn149Ser)
c.716A>G (p.Asn239Ser)
c.1142A>G (p.Asn381Ser)
c.1031A>G (p.Asn344Ser)
n.734A>G
c.899A>G (p.Asn300Ser)
n.725A>G
c.578A>G (p.Asn193Ser)
n.283-5487A>G
c.223A>G
c.884A>G (p.Asn295Ser)
15g.67187386A>TCA392958097SMAD3c.446A>T (p.Asn149Ile)
c.716A>T (p.Asn239Ile)
c.1142A>T (p.Asn381Ile)
c.1031A>T (p.Asn344Ile)
n.734A>T
c.899A>T (p.Asn300Ile)
n.725A>T
c.578A>T (p.Asn193Ile)
n.283-5487A>T
c.223A>T
c.884A>T (p.Asn295Ile)
15g.67187386_67187387insTCA2697549152SMAD3c.446_447insT (p.Asn150GlnfsTer17)
c.716_717insT (p.Asn240GlnfsTer17)
c.1142_1143insT (p.Asn382GlnfsTer17)
c.1031_1032insT (p.Asn345GlnfsTer17)
n.734_735insT
c.899_900insT (p.Asn301GlnfsTer17)
n.725_726insT
c.578_579insT (p.Asn194GlnfsTer17)
n.283-5487_283-5486insT
c.223_224insT
c.884_885insT (p.Asn296GlnfsTer17)
 ClinVar
15g.67187387C>ACA061566SMAD3c.447C>A (p.Asn149Lys)
c.717C>A (p.Asn239Lys)
c.1143C>A (p.Asn381Lys)
c.1032C>A (p.Asn344Lys)
n.735C>A
c.900C>A (p.Asn300Lys)
n.726C>A
c.579C>A (p.Asn193Lys)
n.283-5486C>A
c.224C>A
c.885C>A (p.Asn295Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.67187387C=CA2184420908SMAD3c.447C= (p.Asn149=)
c.717C= (p.Asn239=)
c.1143C= (p.Asn381=)
c.1032C= (p.Asn344=)
n.735C=
c.900C= (p.Asn300=)
n.726C=
c.579C= (p.Asn193=)
n.283-5486C=
c.224C=
c.885C= (p.Asn295=)
15g.67187387C>GCA392958098SMAD3c.447C>G (p.Asn149Lys)
c.717C>G (p.Asn239Lys)
c.1143C>G (p.Asn381Lys)
c.1032C>G (p.Asn344Lys)
n.735C>G
c.900C>G (p.Asn300Lys)
n.726C>G
c.579C>G (p.Asn193Lys)
n.283-5486C>G
c.224C>G
c.885C>G (p.Asn295Lys)
15g.67187387C>TCA490917450SMAD3c.447C>T (p.Asn149=)
c.717C>T (p.Asn239=)
c.1143C>T (p.Asn381=)
c.1032C>T (p.Asn344=)
n.735C>T
c.900C>T (p.Asn300=)
n.726C>T
c.579C>T (p.Asn193=)
n.283-5486C>T
c.224C>T
c.885C>T (p.Asn295=)
 gnomAD v4
15g.67187388A>CCA392958099SMAD3c.448A>C (p.Asn150His)
c.718A>C (p.Asn240His)
c.1144A>C (p.Asn382His)
c.1033A>C (p.Asn345His)
n.736A>C
c.901A>C (p.Asn301His)
n.727A>C
c.580A>C (p.Asn194His)
n.283-5485A>C
c.225A>C
c.886A>C (p.Asn296His)
 ClinVar dbSNP
15g.67187388A>GCA392958100SMAD3c.448A>G (p.Asn150Asp)
c.718A>G (p.Asn240Asp)
c.1144A>G (p.Asn382Asp)
c.1033A>G (p.Asn345Asp)
n.736A>G
c.901A>G (p.Asn301Asp)
n.727A>G
c.580A>G (p.Asn194Asp)
n.283-5485A>G
c.225A>G
c.886A>G (p.Asn296Asp)
 gnomAD v4
15g.67187388A>TCA392958101SMAD3c.448A>T (p.Asn150Tyr)
c.718A>T (p.Asn240Tyr)
c.1144A>T (p.Asn382Tyr)
c.1033A>T (p.Asn345Tyr)
n.736A>T
c.901A>T (p.Asn301Tyr)
n.727A>T
c.580A>T (p.Asn194Tyr)
n.283-5485A>T
c.225A>T
c.886A>T (p.Asn296Tyr)
 ClinVar
15g.67187389A>CCA392958102SMAD3c.449A>C (p.Asn150Thr)
c.719A>C (p.Asn240Thr)
c.1145A>C (p.Asn382Thr)
c.1034A>C (p.Asn345Thr)
n.737A>C
c.902A>C (p.Asn301Thr)
n.728A>C
c.581A>C (p.Asn194Thr)
n.283-5484A>C
c.226A>C
c.887A>C (p.Asn296Thr)
15g.67187389A>GCA392958103SMAD3c.449A>G (p.Asn150Ser)
c.719A>G (p.Asn240Ser)
c.1145A>G (p.Asn382Ser)
c.1034A>G (p.Asn345Ser)
n.737A>G
c.902A>G (p.Asn301Ser)
n.728A>G
c.581A>G (p.Asn194Ser)
n.283-5484A>G
c.226A>G
c.887A>G (p.Asn296Ser)
15g.67187389A>TCA392958104SMAD3c.449A>T (p.Asn150Ile)
c.719A>T (p.Asn240Ile)
c.1145A>T (p.Asn382Ile)
c.1034A>T (p.Asn345Ile)
n.737A>T
c.902A>T (p.Asn301Ile)
n.728A>T
c.581A>T (p.Asn194Ile)
n.283-5484A>T
c.226A>T
c.887A>T (p.Asn296Ile)
15g.67187390C>ACA392958106SMAD3c.450C>A (p.Asn150Lys)
c.720C>A (p.Asn240Lys)
c.1146C>A (p.Asn382Lys)
c.1035C>A (p.Asn345Lys)
n.738C>A
c.903C>A (p.Asn301Lys)
n.729C>A
c.582C>A (p.Asn194Lys)
n.283-5483C>A
c.227C>A
c.888C>A (p.Asn296Lys)
15g.67187390C=CA2184420909SMAD3c.450C= (p.Asn150=)
c.720C= (p.Asn240=)
c.1146C= (p.Asn382=)
c.1035C= (p.Asn345=)
n.738C=
c.903C= (p.Asn301=)
n.729C=
c.582C= (p.Asn194=)
n.283-5483C=
c.227C=
c.888C= (p.Asn296=)
15g.67187390C>GCA392958105SMAD3c.450C>G (p.Asn150Lys)
c.720C>G (p.Asn240Lys)
c.1146C>G (p.Asn382Lys)
c.1035C>G (p.Asn345Lys)
n.738C>G
c.903C>G (p.Asn301Lys)
n.729C>G
c.582C>G (p.Asn194Lys)
n.283-5483C>G
c.227C>G
c.888C>G (p.Asn296Lys)
 ClinVar dbSNP
15g.67187390C>TCA490917462SMAD3c.450C>T (p.Asn150=)
c.720C>T (p.Asn240=)
c.1146C>T (p.Asn382=)
c.1035C>T (p.Asn345=)
n.738C>T
c.903C>T (p.Asn301=)
n.729C>T
c.582C>T (p.Asn194=)
n.283-5483C>T
c.227C>T
c.888C>T (p.Asn296=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.67187391C>ACA392958107SMAD3c.451C>A (p.Gln151Lys)
c.721C>A (p.Gln241Lys)
c.1147C>A (p.Gln383Lys)
c.1036C>A (p.Gln346Lys)
n.739C>A
c.904C>A (p.Gln302Lys)
n.730C>A
c.583C>A (p.Gln195Lys)
n.283-5482C>A
c.228C>A
c.889C>A (p.Gln297Lys)
15g.67187391C>GCA392958108SMAD3c.451C>G (p.Gln151Glu)
c.721C>G (p.Gln241Glu)
c.1147C>G (p.Gln383Glu)
c.1036C>G (p.Gln346Glu)
n.739C>G
c.904C>G (p.Gln302Glu)
n.730C>G
c.583C>G (p.Gln195Glu)
n.283-5482C>G
c.228C>G
c.889C>G (p.Gln297Glu)
15g.67187391C>TCA392958109SMAD3c.451C>T (p.Gln151Ter)
c.721C>T (p.Gln241Ter)
c.1147C>T (p.Gln383Ter)
c.1036C>T (p.Gln346Ter)
n.739C>T
c.904C>T (p.Gln302Ter)
n.730C>T
c.583C>T (p.Gln195Ter)
n.283-5482C>T
c.228C>T
c.889C>T (p.Gln297Ter)
15g.67187392A>CCA392958110SMAD3c.452A>C (p.Gln151Pro)
c.722A>C (p.Gln241Pro)
c.1148A>C (p.Gln383Pro)
c.1037A>C (p.Gln346Pro)
n.740A>C
c.905A>C (p.Gln302Pro)
n.731A>C
c.584A>C (p.Gln195Pro)
n.283-5481A>C
c.229A>C
c.890A>C (p.Gln297Pro)
15g.67187392A>GCA392958111SMAD3c.452A>G (p.Gln151Arg)
c.722A>G (p.Gln241Arg)
c.1148A>G (p.Gln383Arg)
c.1037A>G (p.Gln346Arg)
n.740A>G
c.905A>G (p.Gln302Arg)
n.731A>G
c.584A>G (p.Gln195Arg)
n.283-5481A>G
c.229A>G
c.890A>G (p.Gln297Arg)
15g.67187392A>TCA392958112SMAD3c.452A>T (p.Gln151Leu)
c.722A>T (p.Gln241Leu)
c.1148A>T (p.Gln383Leu)
c.1037A>T (p.Gln346Leu)
n.740A>T
c.905A>T (p.Gln302Leu)
n.731A>T
c.584A>T (p.Gln195Leu)
n.283-5481A>T
c.229A>T
c.890A>T (p.Gln297Leu)
15g.67187393G>ACA490917473SMAD3c.453G>A (p.Gln151=)
c.723G>A (p.Gln241=)
c.1149G>A (p.Gln383=)
c.1038G>A (p.Gln346=)
n.741G>A
c.906G>A (p.Gln302=)
n.732G>A
c.585G>A (p.Gln195=)
n.283-5480G>A
c.230G>A
c.891G>A (p.Gln297=)
15g.67187393G>CCA392958113SMAD3c.453G>C (p.Gln151His)
c.723G>C (p.Gln241His)
c.1149G>C (p.Gln383His)
c.1038G>C (p.Gln346His)
n.741G>C
c.906G>C (p.Gln302His)
n.732G>C
c.585G>C (p.Gln195His)
n.283-5480G>C
c.230G>C
c.891G>C (p.Gln297His)
 dbSNP
15g.67187393G>TCA392958114SMAD3c.453G>T (p.Gln151His)
c.723G>T (p.Gln241His)
c.1149G>T (p.Gln383His)
c.1038G>T (p.Gln346His)
n.741G>T
c.906G>T (p.Gln302His)
n.732G>T
c.585G>T (p.Gln195His)
n.283-5480G>T
c.230G>T
c.891G>T (p.Gln297His)
 COSMIC COSMIC
15g.67187394G>ACA392958115SMAD3c.454G>A (p.Glu152Lys)
c.724G>A (p.Glu242Lys)
c.1150G>A (p.Glu384Lys)
c.1039G>A (p.Glu347Lys)
n.742G>A
c.907G>A (p.Glu303Lys)
n.733G>A
c.586G>A (p.Glu196Lys)
n.283-5479G>A
c.231G>A
c.892G>A (p.Glu298Lys)
15g.67187394G>CCA392958116SMAD3c.454G>C (p.Glu152Gln)
c.724G>C (p.Glu242Gln)
c.1150G>C (p.Glu384Gln)
c.1039G>C (p.Glu347Gln)
n.742G>C
c.907G>C (p.Glu303Gln)
n.733G>C
c.586G>C (p.Glu196Gln)
n.283-5479G>C
c.231G>C
c.892G>C (p.Glu298Gln)
 dbSNP gnomAD v3 gnomAD v4
15g.67187394G=CA2184420910SMAD3c.454G= (p.Glu152=)
c.724G= (p.Glu242=)
c.1150G= (p.Glu384=)
c.1039G= (p.Glu347=)
n.742G=
c.907G= (p.Glu303=)
n.733G=
c.586G= (p.Glu196=)
n.283-5479G=
c.231G=
c.892G= (p.Glu298=)
15g.67187394G>TCA392958117SMAD3c.454G>T (p.Glu152Ter)
c.724G>T (p.Glu242Ter)
c.1150G>T (p.Glu384Ter)
c.1039G>T (p.Glu347Ter)
n.742G>T
c.907G>T (p.Glu303Ter)
n.733G>T
c.586G>T (p.Glu196Ter)
n.283-5479G>T
c.231G>T
c.892G>T (p.Glu298Ter)
15g.67187395A>CCA392958119SMAD3c.455A>C (p.Glu152Ala)
c.725A>C (p.Glu242Ala)
c.1151A>C (p.Glu384Ala)
c.1040A>C (p.Glu347Ala)
n.743A>C
c.908A>C (p.Glu303Ala)
n.734A>C
c.587A>C (p.Glu196Ala)
n.283-5478A>C
c.232A>C
c.893A>C (p.Glu298Ala)
 ClinVar
15g.67187395A>GCA392958120SMAD3c.455A>G (p.Glu152Gly)
c.725A>G (p.Glu242Gly)
c.1151A>G (p.Glu384Gly)
c.1040A>G (p.Glu347Gly)
n.743A>G
c.908A>G (p.Glu303Gly)
n.734A>G
c.587A>G (p.Glu196Gly)
n.283-5478A>G
c.232A>G
c.893A>G (p.Glu298Gly)
15g.67187395A>TCA392958118SMAD3c.455A>T (p.Glu152Val)
c.725A>T (p.Glu242Val)
c.1151A>T (p.Glu384Val)
c.1040A>T (p.Glu347Val)
n.743A>T
c.908A>T (p.Glu303Val)
n.734A>T
c.587A>T (p.Glu196Val)
n.283-5478A>T
c.232A>T
c.893A>T (p.Glu298Val)
15g.67187396delCA2695220928SMAD3c.456del (p.Glu152AspfsTer20)
c.726del (p.Glu242AspfsTer20)
c.1152del (p.Glu384AspfsTer20)
c.1041del (p.Glu347AspfsTer20)
n.744del
c.909del (p.Glu303AspfsTer20)
n.735del
c.588del (p.Glu196AspfsTer?)
n.283-5477del
c.233del
c.894del (p.Glu298AspfsTer20)
15g.67187396G>ACA490917502SMAD3c.456G>A (p.Glu152=)
c.726G>A (p.Glu242=)
c.1152G>A (p.Glu384=)
c.1041G>A (p.Glu347=)
n.744G>A
c.909G>A (p.Glu303=)
n.735G>A
c.588G>A (p.Glu196=)
n.283-5477G>A
c.233G>A
c.894G>A (p.Glu298=)
15g.67187396G>CCA392958121SMAD3c.456G>C (p.Glu152Asp)
c.726G>C (p.Glu242Asp)
c.1152G>C (p.Glu384Asp)
c.1041G>C (p.Glu347Asp)
n.744G>C
c.909G>C (p.Glu303Asp)
n.735G>C
c.588G>C (p.Glu196Asp)
n.283-5477G>C
c.233G>C
c.894G>C (p.Glu298Asp)
15g.67187396G>TCA392958122SMAD3c.456G>T (p.Glu152Asp)
c.726G>T (p.Glu242Asp)
c.1152G>T (p.Glu384Asp)
c.1041G>T (p.Glu347Asp)
n.744G>T
c.909G>T (p.Glu303Asp)
n.735G>T
c.588G>T (p.Glu196Asp)
n.283-5477G>T
c.233G>T
c.894G>T (p.Glu298Asp)
15g.67187397T>ACA392958123SMAD3c.457T>A (p.Phe153Ile)
c.727T>A (p.Phe243Ile)
c.1153T>A (p.Phe385Ile)
c.1042T>A (p.Phe348Ile)
n.745T>A
c.910T>A (p.Phe304Ile)
n.736T>A
c.589T>A (p.Phe197Ile)
n.283-5476T>A
c.234T>A
c.895T>A (p.Phe299Ile)
 COSMIC COSMIC
15g.67187397T>CCA392958124SMAD3c.457T>C (p.Phe153Leu)
c.727T>C (p.Phe243Leu)
c.1153T>C (p.Phe385Leu)
c.1042T>C (p.Phe348Leu)
n.745T>C
c.910T>C (p.Phe304Leu)
n.736T>C
c.589T>C (p.Phe197Leu)
n.283-5476T>C
c.234T>C
c.895T>C (p.Phe299Leu)
15g.67187397T>GCA392958125SMAD3c.457T>G (p.Phe153Val)
c.727T>G (p.Phe243Val)
c.1153T>G (p.Phe385Val)
c.1042T>G (p.Phe348Val)
n.745T>G
c.910T>G (p.Phe304Val)
n.736T>G
c.589T>G (p.Phe197Val)
n.283-5476T>G
c.234T>G
c.895T>G (p.Phe299Val)
15g.67187398T>ACA392958128SMAD3c.458T>A (p.Phe153Tyr)
c.728T>A (p.Phe243Tyr)
c.1154T>A (p.Phe385Tyr)
c.1043T>A (p.Phe348Tyr)
n.746T>A
c.911T>A (p.Phe304Tyr)
n.737T>A
c.590T>A (p.Phe197Tyr)
n.283-5475T>A
c.235T>A
c.896T>A (p.Phe299Tyr)
15g.67187398T>CCA392958127SMAD3c.458T>C (p.Phe153Ser)
c.728T>C (p.Phe243Ser)
c.1154T>C (p.Phe385Ser)
c.1043T>C (p.Phe348Ser)
n.746T>C
c.911T>C (p.Phe304Ser)
n.737T>C
c.590T>C (p.Phe197Ser)
n.283-5475T>C
c.235T>C
c.896T>C (p.Phe299Ser)
15g.67187398T>GCA392958126SMAD3c.458T>G (p.Phe153Cys)
c.728T>G (p.Phe243Cys)
c.1154T>G (p.Phe385Cys)
c.1043T>G (p.Phe348Cys)
n.746T>G
c.911T>G (p.Phe304Cys)
n.737T>G
c.590T>G (p.Phe197Cys)
n.283-5475T>G
c.235T>G
c.896T>G (p.Phe299Cys)
15g.67187399_67187402delCA2731023649SMAD3c.459_462del (p.Phe153LeufsTer18)
c.729_732del (p.Phe243LeufsTer18)
c.1155_1158del (p.Phe385LeufsTer18)
c.1044_1047del (p.Phe348LeufsTer18)
n.747_750del
c.912_915del (p.Phe304LeufsTer18)
n.738_741del
c.591_594del (p.Phe197LeufsTer?)
n.283-5474_283-5471del
c.236_239del
c.897_900del (p.Phe299LeufsTer18)
 dbSNP
15g.67187399C>ACA392958129SMAD3c.459C>A (p.Phe153Leu)
c.729C>A (p.Phe243Leu)
c.1155C>A (p.Phe385Leu)
c.1044C>A (p.Phe348Leu)
n.747C>A
c.912C>A (p.Phe304Leu)
n.738C>A
c.591C>A (p.Phe197Leu)
n.283-5474C>A
c.236C>A
c.897C>A (p.Phe299Leu)
 dbSNP
15g.67187399C=CA2184420911SMAD3c.459C= (p.Phe153=)
c.729C= (p.Phe243=)
c.1155C= (p.Phe385=)
c.1044C= (p.Phe348=)
n.747C=
c.912C= (p.Phe304=)
n.738C=
c.591C= (p.Phe197=)
n.283-5474C=
c.236C=
c.897C= (p.Phe299=)
15g.67187399C>GCA392958130SMAD3c.459C>G (p.Phe153Leu)
c.729C>G (p.Phe243Leu)
c.1155C>G (p.Phe385Leu)
c.1044C>G (p.Phe348Leu)
n.747C>G
c.912C>G (p.Phe304Leu)
n.738C>G
c.591C>G (p.Phe197Leu)
n.283-5474C>G
c.236C>G
c.897C>G (p.Phe299Leu)
 ClinVar
15g.67187399C>TCA061569SMAD3c.459C>T (p.Phe153=)
c.729C>T (p.Phe243=)
c.1155C>T (p.Phe385=)
c.1044C>T (p.Phe348=)
n.747C>T
c.912C>T (p.Phe304=)
n.738C>T
c.591C>T (p.Phe197=)
n.283-5474C>T
c.236C>T
c.897C>T (p.Phe299=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
15g.67187400G>ACA392958131SMAD3c.460G>A (p.Ala154Thr)
c.730G>A (p.Ala244Thr)
c.1156G>A (p.Ala386Thr)
c.1045G>A (p.Ala349Thr)
n.748G>A
c.913G>A (p.Ala305Thr)
n.739G>A
c.592G>A (p.Ala198Thr)
n.283-5473G>A
c.237G>A
c.898G>A (p.Ala300Thr)
 ClinVar dbSNP gnomAD v4
15g.67187400G>CCA392958132SMAD3c.460G>C (p.Ala154Pro)
c.730G>C (p.Ala244Pro)
c.1156G>C (p.Ala386Pro)
c.1045G>C (p.Ala349Pro)
n.748G>C
c.913G>C (p.Ala305Pro)
n.739G>C
c.592G>C (p.Ala198Pro)
n.283-5473G>C
c.237G>C
c.898G>C (p.Ala300Pro)
15g.67187400G=CA2184420912SMAD3c.460G= (p.Ala154=)
c.730G= (p.Ala244=)
c.1156G= (p.Ala386=)
c.1045G= (p.Ala349=)
n.748G=
c.913G= (p.Ala305=)
n.739G=
c.592G= (p.Ala198=)
n.283-5473G=
c.237G=
c.898G= (p.Ala300=)
15g.67187400G>TCA392958133SMAD3c.460G>T (p.Ala154Ser)
c.730G>T (p.Ala244Ser)
c.1156G>T (p.Ala386Ser)
c.1045G>T (p.Ala349Ser)
n.748G>T
c.913G>T (p.Ala305Ser)
n.739G>T
c.592G>T (p.Ala198Ser)
n.283-5473G>T
c.237G>T
c.898G>T (p.Ala300Ser)
 COSMIC
15g.67187401C>ACA392958134SMAD3c.461C>A (p.Ala154Asp)
c.731C>A (p.Ala244Asp)
c.1157C>A (p.Ala386Asp)
c.1046C>A (p.Ala349Asp)
n.749C>A
c.914C>A (p.Ala305Asp)
n.740C>A
c.593C>A (p.Ala198Asp)
n.283-5472C>A
c.238C>A
c.899C>A (p.Ala300Asp)
15g.67187401C>GCA392958136SMAD3c.461C>G (p.Ala154Gly)
c.731C>G (p.Ala244Gly)
c.1157C>G (p.Ala386Gly)
c.1046C>G (p.Ala349Gly)
n.749C>G
c.914C>G (p.Ala305Gly)
n.740C>G
c.593C>G (p.Ala198Gly)
n.283-5472C>G
c.238C>G
c.899C>G (p.Ala300Gly)
15g.67187401C>TCA392958135SMAD3c.461C>T (p.Ala154Val)
c.731C>T (p.Ala244Val)
c.1157C>T (p.Ala386Val)
c.1046C>T (p.Ala349Val)
n.749C>T
c.914C>T (p.Ala305Val)
n.740C>T
c.593C>T (p.Ala198Val)
n.283-5472C>T
c.238C>T
c.899C>T (p.Ala300Val)
15g.67187402T>ACA490917530SMAD3c.462T>A (p.Ala154=)
c.732T>A (p.Ala244=)
c.1158T>A (p.Ala386=)
c.1047T>A (p.Ala349=)
n.750T>A
c.915T>A (p.Ala305=)
n.741T>A
c.594T>A (p.Ala198=)
n.283-5471T>A
c.239T>A
c.900T>A (p.Ala300=)
15g.67187402T>CCA490917532SMAD3c.462T>C (p.Ala154=)
c.732T>C (p.Ala244=)
c.1158T>C (p.Ala386=)
c.1047T>C (p.Ala349=)
n.750T>C
c.915T>C (p.Ala305=)
n.741T>C
c.594T>C (p.Ala198=)
n.283-5471T>C
c.239T>C
c.900T>C (p.Ala300=)
15g.67187402T>GCA490917534SMAD3c.462T>G (p.Ala154=)
c.732T>G (p.Ala244=)
c.1158T>G (p.Ala386=)
c.1047T>G (p.Ala349=)
n.750T>G
c.915T>G (p.Ala305=)
n.741T>G
c.594T>G (p.Ala198=)
n.283-5471T>G
c.239T>G
c.900T>G (p.Ala300=)
 gnomAD v3 gnomAD v4
15g.67187403G>ACA392958137SMAD3c.463G>A (p.Ala155Thr)
c.733G>A (p.Ala245Thr)
c.1159G>A (p.Ala387Thr)
c.1048G>A (p.Ala350Thr)
n.751G>A
c.916G>A (p.Ala306Thr)
n.742G>A
c.595G>A (p.Ala199Thr)
n.283-5470G>A
c.240G>A
c.901G>A (p.Ala301Thr)
 dbSNP
15g.67187403G>CCA392958138SMAD3c.463G>C (p.Ala155Pro)
c.733G>C (p.Ala245Pro)
c.1159G>C (p.Ala387Pro)
c.1048G>C (p.Ala350Pro)
n.751G>C
c.916G>C (p.Ala306Pro)
n.742G>C
c.595G>C (p.Ala199Pro)
n.283-5470G>C
c.240G>C
c.901G>C (p.Ala301Pro)
15g.67187403G>TCA392958139SMAD3c.463G>T (p.Ala155Ser)
c.733G>T (p.Ala245Ser)
c.1159G>T (p.Ala387Ser)
c.1048G>T (p.Ala350Ser)
n.751G>T
c.916G>T (p.Ala306Ser)
n.742G>T
c.595G>T (p.Ala199Ser)
n.283-5470G>T
c.240G>T
c.901G>T (p.Ala301Ser)
15g.67187404C>ACA392958140SMAD3c.464C>A (p.Ala155Asp)
c.734C>A (p.Ala245Asp)
c.1160C>A (p.Ala387Asp)
c.1049C>A (p.Ala350Asp)
n.752C>A
c.917C>A (p.Ala306Asp)
n.743C>A
c.596C>A (p.Ala199Asp)
n.283-5469C>A
c.241C>A
c.902C>A (p.Ala301Asp)
15g.67187404C>GCA392958141SMAD3c.464C>G (p.Ala155Gly)
c.734C>G (p.Ala245Gly)
c.1160C>G (p.Ala387Gly)
c.1049C>G (p.Ala350Gly)
n.752C>G
c.917C>G (p.Ala306Gly)
n.743C>G
c.596C>G (p.Ala199Gly)
n.283-5469C>G
c.241C>G
c.902C>G (p.Ala301Gly)
15g.67187404C>TCA392958142SMAD3c.464C>T (p.Ala155Val)
c.734C>T (p.Ala245Val)
c.1160C>T (p.Ala387Val)
c.1049C>T (p.Ala350Val)
n.752C>T
c.917C>T (p.Ala306Val)
n.743C>T
c.596C>T (p.Ala199Val)
n.283-5469C>T
c.241C>T
c.902C>T (p.Ala301Val)
 dbSNP
15g.67187405C>ACA490917543SMAD3c.465C>A (p.Ala155=)
c.735C>A (p.Ala245=)
c.1161C>A (p.Ala387=)
c.1050C>A (p.Ala350=)
n.753C>A
c.918C>A (p.Ala306=)
n.744C>A
c.597C>A (p.Ala199=)
n.283-5468C>A
c.242C>A
c.903C>A (p.Ala301=)
15g.67187405C>GCA490917544SMAD3c.465C>G (p.Ala155=)
c.735C>G (p.Ala245=)
c.1161C>G (p.Ala387=)
c.1050C>G (p.Ala350=)
n.753C>G
c.918C>G (p.Ala306=)
n.744C>G
c.597C>G (p.Ala199=)
n.283-5468C>G
c.242C>G
c.903C>G (p.Ala301=)
15g.67187405C>TCA490917545SMAD3c.465C>T (p.Ala155=)
c.735C>T (p.Ala245=)
c.1161C>T (p.Ala387=)
c.1050C>T (p.Ala350=)
n.753C>T
c.918C>T (p.Ala306=)
n.744C>T
c.597C>T (p.Ala199=)
n.283-5468C>T
c.242C>T
c.903C>T (p.Ala301=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.67187406C>ACA392958143SMAD3c.466C>A (p.Leu156Ile)
c.736C>A (p.Leu246Ile)
c.1162C>A (p.Leu388Ile)
c.1051C>A (p.Leu351Ile)
n.754C>A
c.919C>A (p.Leu307Ile)
n.745C>A
c.598C>A (p.Leu200Ile)
n.283-5467C>A
c.243C>A
c.904C>A (p.Leu302Ile)
 dbSNP
15g.67187406C>GCA392958144SMAD3c.466C>G (p.Leu156Val)
c.736C>G (p.Leu246Val)
c.1162C>G (p.Leu388Val)
c.1051C>G (p.Leu351Val)
n.754C>G
c.919C>G (p.Leu307Val)
n.745C>G
c.598C>G (p.Leu200Val)
n.283-5467C>G
c.243C>G
c.904C>G (p.Leu302Val)
15g.67187406C>TCA392958145SMAD3c.466C>T (p.Leu156Phe)
c.736C>T (p.Leu246Phe)
c.1162C>T (p.Leu388Phe)
c.1051C>T (p.Leu351Phe)
n.754C>T
c.919C>T (p.Leu307Phe)
n.745C>T
c.598C>T (p.Leu200Phe)
n.283-5467C>T
c.243C>T
c.904C>T (p.Leu302Phe)
 dbSNP
15g.67187407T>ACA392958146SMAD3c.467T>A (p.Leu156His)
c.737T>A (p.Leu246His)
c.1163T>A (p.Leu388His)
c.1052T>A (p.Leu351His)
n.755T>A
c.920T>A (p.Leu307His)
n.746T>A
c.599T>A (p.Leu200His)
n.283-5466T>A
c.244T>A
c.905T>A (p.Leu302His)
15g.67187407T>CCA392958147SMAD3c.467T>C (p.Leu156Pro)
c.737T>C (p.Leu246Pro)
c.1163T>C (p.Leu388Pro)
c.1052T>C (p.Leu351Pro)
n.755T>C
c.920T>C (p.Leu307Pro)
n.746T>C
c.599T>C (p.Leu200Pro)
n.283-5466T>C
c.244T>C
c.905T>C (p.Leu302Pro)
15g.67187407T>GCA392958148SMAD3c.467T>G (p.Leu156Arg)
c.737T>G (p.Leu246Arg)
c.1163T>G (p.Leu388Arg)
c.1052T>G (p.Leu351Arg)
n.755T>G
c.920T>G (p.Leu307Arg)
n.746T>G
c.599T>G (p.Leu200Arg)
n.283-5466T>G
c.244T>G
c.905T>G (p.Leu302Arg)
15g.67187408C>ACA490917549SMAD3c.468C>A (p.Leu156=)
c.738C>A (p.Leu246=)
c.1164C>A (p.Leu388=)
c.1053C>A (p.Leu351=)
n.756C>A
c.921C>A (p.Leu307=)
n.747C>A
c.600C>A (p.Leu200=)
n.283-5465C>A
c.245C>A
c.906C>A (p.Leu302=)
15g.67187408C=CA2184420913SMAD3c.468C= (p.Leu156=)
c.738C= (p.Leu246=)
c.1164C= (p.Leu388=)
c.1053C= (p.Leu351=)
n.756C=
c.921C= (p.Leu307=)
n.747C=
c.600C= (p.Leu200=)
n.283-5465C=
c.245C=
c.906C= (p.Leu302=)
15g.67187408C>GCA490917550SMAD3c.468C>G (p.Leu156=)
c.738C>G (p.Leu246=)
c.1164C>G (p.Leu388=)
c.1053C>G (p.Leu351=)
n.756C>G
c.921C>G (p.Leu307=)
n.747C>G
c.600C>G (p.Leu200=)
n.283-5465C>G
c.245C>G
c.906C>G (p.Leu302=)
15g.67187408C>TCA490917551SMAD3c.468C>T (p.Leu156=)
c.738C>T (p.Leu246=)
c.1164C>T (p.Leu388=)
c.1053C>T (p.Leu351=)
n.756C>T
c.921C>T (p.Leu307=)
n.747C>T
c.600C>T (p.Leu200=)
n.283-5465C>T
c.245C>T
c.906C>T (p.Leu302=)
 dbSNP
15g.67187409C>ACA392958150SMAD3c.469C>A (p.Leu157Met)
c.739C>A (p.Leu247Met)
c.1165C>A (p.Leu389Met)
c.1054C>A (p.Leu352Met)
n.757C>A
c.922C>A (p.Leu308Met)
n.748C>A
c.601C>A (p.Leu201Met)
n.283-5464C>A
c.246C>A
c.907C>A (p.Leu303Met)
15g.67187409C>GCA392958149SMAD3c.469C>G (p.Leu157Val)
c.739C>G (p.Leu247Val)
c.1165C>G (p.Leu389Val)
c.1054C>G (p.Leu352Val)
n.757C>G
c.922C>G (p.Leu308Val)
n.748C>G
c.601C>G (p.Leu201Val)
n.283-5464C>G
c.246C>G
c.907C>G (p.Leu303Val)
15g.67187409C>TCA490917554SMAD3c.469C>T (p.Leu157=)
c.739C>T (p.Leu247=)
c.1165C>T (p.Leu389=)
c.1054C>T (p.Leu352=)
n.757C>T
c.922C>T (p.Leu308=)
n.748C>T
c.601C>T (p.Leu201=)
n.283-5464C>T
c.246C>T
c.907C>T (p.Leu303=)
 gnomAD v3 gnomAD v4
15g.67187410T>ACA392958151SMAD3c.470T>A (p.Leu157Gln)
c.740T>A (p.Leu247Gln)
c.1166T>A (p.Leu389Gln)
c.1055T>A (p.Leu352Gln)
n.758T>A
c.923T>A (p.Leu308Gln)
n.749T>A
c.602T>A (p.Leu201Gln)
n.283-5463T>A
c.247T>A
c.908T>A (p.Leu303Gln)
15g.67187410T>CCA392958153SMAD3c.470T>C (p.Leu157Pro)
c.740T>C (p.Leu247Pro)
c.1166T>C (p.Leu389Pro)
c.1055T>C (p.Leu352Pro)
n.758T>C
c.923T>C (p.Leu308Pro)
n.749T>C
c.602T>C (p.Leu201Pro)
n.283-5463T>C
c.247T>C
c.908T>C (p.Leu303Pro)
15g.67187410T>GCA392958152SMAD3c.470T>G (p.Leu157Arg)
c.740T>G (p.Leu247Arg)
c.1166T>G (p.Leu389Arg)
c.1055T>G (p.Leu352Arg)
n.758T>G
c.923T>G (p.Leu308Arg)
n.749T>G
c.602T>G (p.Leu201Arg)
n.283-5463T>G
c.247T>G
c.908T>G (p.Leu303Arg)
15g.67187411G>ACA490917556SMAD3c.471G>A (p.Leu157=)
c.741G>A (p.Leu247=)
c.1167G>A (p.Leu389=)
c.1056G>A (p.Leu352=)
n.759G>A
c.924G>A (p.Leu308=)
n.750G>A
c.603G>A (p.Leu201=)
n.283-5462G>A
c.248G>A
c.909G>A (p.Leu303=)
 dbSNP
15g.67187411G>CCA061572SMAD3c.471G>C (p.Leu157=)
c.741G>C (p.Leu247=)
c.1167G>C (p.Leu389=)
c.1056G>C (p.Leu352=)
n.759G>C
c.924G>C (p.Leu308=)
n.750G>C
c.603G>C (p.Leu201=)
n.283-5462G>C
c.248G>C
c.909G>C (p.Leu303=)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.67187411G=CA2184420914SMAD3c.471G= (p.Leu157=)
c.741G= (p.Leu247=)
c.1167G= (p.Leu389=)
c.1056G= (p.Leu352=)
n.759G=
c.924G= (p.Leu308=)
n.750G=
c.603G= (p.Leu201=)
n.283-5462G=
c.248G=
c.909G= (p.Leu303=)
15g.67187411G>TCA490917563SMAD3c.471G>T (p.Leu157=)
c.741G>T (p.Leu247=)
c.1167G>T (p.Leu389=)
c.1056G>T (p.Leu352=)
n.759G>T
c.924G>T (p.Leu308=)
n.750G>T
c.603G>T (p.Leu201=)
n.283-5462G>T
c.248G>T
c.909G>T (p.Leu303=)
15g.67187412G>ACA392958154SMAD3c.472G>A (p.Ala158Thr)
c.742G>A (p.Ala248Thr)
c.1168G>A (p.Ala390Thr)
c.1057G>A (p.Ala353Thr)
n.760G>A
c.925G>A (p.Ala309Thr)
n.751G>A
c.604G>A (p.Ala202Thr)
n.283-5461G>A
c.249G>A
c.910G>A (p.Ala304Thr)
 dbSNP
15g.67187412G>CCA392958155SMAD3c.472G>C (p.Ala158Pro)
c.742G>C (p.Ala248Pro)
c.1168G>C (p.Ala390Pro)
c.1057G>C (p.Ala353Pro)
n.760G>C
c.925G>C (p.Ala309Pro)
n.751G>C
c.604G>C (p.Ala202Pro)
n.283-5461G>C
c.249G>C
c.910G>C (p.Ala304Pro)
 dbSNP
15g.67187412G>TCA392958156SMAD3c.472G>T (p.Ala158Ser)
c.742G>T (p.Ala248Ser)
c.1168G>T (p.Ala390Ser)
c.1057G>T (p.Ala353Ser)
n.760G>T
c.925G>T (p.Ala309Ser)
n.751G>T
c.604G>T (p.Ala202Ser)
n.283-5461G>T
c.249G>T
c.910G>T (p.Ala304Ser)
15g.67187413C>ACA392958157SMAD3c.473C>A (p.Ala158Asp)
c.743C>A (p.Ala248Asp)
c.1169C>A (p.Ala390Asp)
c.1058C>A (p.Ala353Asp)
n.761C>A
c.926C>A (p.Ala309Asp)
n.752C>A
c.605C>A (p.Ala202Asp)
n.283-5460C>A
c.250C>A
c.911C>A (p.Ala304Asp)
 dbSNP
15g.67187413C=CA2184420915SMAD3c.473C= (p.Ala158=)
c.743C= (p.Ala248=)
c.1169C= (p.Ala390=)
c.1058C= (p.Ala353=)
n.761C=
c.926C= (p.Ala309=)
n.752C=
c.605C= (p.Ala202=)
n.283-5460C=
c.250C=
c.911C= (p.Ala304=)
15g.67187413C>GCA392958158SMAD3c.473C>G (p.Ala158Gly)
c.743C>G (p.Ala248Gly)
c.1169C>G (p.Ala390Gly)
c.1058C>G (p.Ala353Gly)
n.761C>G
c.926C>G (p.Ala309Gly)
n.752C>G
c.605C>G (p.Ala202Gly)
n.283-5460C>G
c.250C>G
c.911C>G (p.Ala304Gly)
15g.67187413C>TCA392958159SMAD3c.473C>T (p.Ala158Val)
c.743C>T (p.Ala248Val)
c.1169C>T (p.Ala390Val)
c.1058C>T (p.Ala353Val)
n.761C>T
c.926C>T (p.Ala309Val)
n.752C>T
c.605C>T (p.Ala202Val)
n.283-5460C>T
c.250C>T
c.911C>T (p.Ala304Val)
 dbSNP
15g.67187414C>ACA061577SMAD3c.474C>A (p.Ala158=)
c.744C>A (p.Ala248=)
c.1170C>A (p.Ala390=)
c.1059C>A (p.Ala353=)
n.762C>A
c.927C>A (p.Ala309=)
n.753C>A
c.606C>A (p.Ala202=)
n.283-5459C>A
c.251C>A
c.912C>A (p.Ala304=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.67187414C=CA2184420916SMAD3c.474C= (p.Ala158=)
c.744C= (p.Ala248=)
c.1170C= (p.Ala390=)
c.1059C= (p.Ala353=)
n.762C=
c.927C= (p.Ala309=)
n.753C=
c.606C= (p.Ala202=)
n.283-5459C=
c.251C=
c.912C= (p.Ala304=)
15g.67187414C>GCA490917580SMAD3c.474C>G (p.Ala158=)
c.744C>G (p.Ala248=)
c.1170C>G (p.Ala390=)
c.1059C>G (p.Ala353=)
n.762C>G
c.927C>G (p.Ala309=)
n.753C>G
c.606C>G (p.Ala202=)
n.283-5459C>G
c.251C>G
c.912C>G (p.Ala304=)
15g.67187414C>TCA490917581SMAD3c.474C>T (p.Ala158=)
c.744C>T (p.Ala248=)
c.1170C>T (p.Ala390=)
c.1059C>T (p.Ala353=)
n.762C>T
c.927C>T (p.Ala309=)
n.753C>T
c.606C>T (p.Ala202=)
n.283-5459C>T
c.251C>T
c.912C>T (p.Ala304=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.67187415C>ACA392958160SMAD3c.475C>A (p.Gln159Lys)
c.745C>A (p.Gln249Lys)
c.1171C>A (p.Gln391Lys)
c.1060C>A (p.Gln354Lys)
n.763C>A
c.928C>A (p.Gln310Lys)
n.754C>A
c.607C>A (p.Gln203Lys)
n.283-5458C>A
c.252C>A
c.913C>A (p.Gln305Lys)
15g.67187415C>GCA392958161SMAD3c.475C>G (p.Gln159Glu)
c.745C>G (p.Gln249Glu)
c.1171C>G (p.Gln391Glu)
c.1060C>G (p.Gln354Glu)
n.763C>G
c.928C>G (p.Gln310Glu)
n.754C>G
c.607C>G (p.Gln203Glu)
n.283-5458C>G
c.252C>G
c.913C>G (p.Gln305Glu)
15g.67187415C>TCA392958162SMAD3c.475C>T (p.Gln159Ter)
c.745C>T (p.Gln249Ter)
c.1171C>T (p.Gln391Ter)
c.1060C>T (p.Gln354Ter)
n.763C>T
c.928C>T (p.Gln310Ter)
n.754C>T
c.607C>T (p.Gln203Ter)
n.283-5458C>T
c.252C>T
c.913C>T (p.Gln305Ter)
 dbSNP COSMIC COSMIC
15g.67187416A>CCA392958165SMAD3c.476A>C (p.Gln159Pro)
c.746A>C (p.Gln249Pro)
c.1172A>C (p.Gln391Pro)
c.1061A>C (p.Gln354Pro)
n.764A>C
c.929A>C (p.Gln310Pro)
n.755A>C
c.608A>C (p.Gln203Pro)
n.283-5457A>C
c.253A>C
c.914A>C (p.Gln305Pro)
15g.67187416A>GCA392958164SMAD3c.476A>G (p.Gln159Arg)
c.746A>G (p.Gln249Arg)
c.1172A>G (p.Gln391Arg)
c.1061A>G (p.Gln354Arg)
n.764A>G
c.929A>G (p.Gln310Arg)
n.755A>G
c.608A>G (p.Gln203Arg)
n.283-5457A>G
c.253A>G
c.914A>G (p.Gln305Arg)
15g.67187416A>TCA392958163SMAD3c.476A>T (p.Gln159Leu)
c.746A>T (p.Gln249Leu)
c.1172A>T (p.Gln391Leu)
c.1061A>T (p.Gln354Leu)
n.764A>T
c.929A>T (p.Gln310Leu)
n.755A>T
c.608A>T (p.Gln203Leu)
n.283-5457A>T
c.253A>T
c.914A>T (p.Gln305Leu)
15g.67187417G>ACA490917592SMAD3c.477G>A (p.Gln159=)
c.747G>A (p.Gln249=)
c.1173G>A (p.Gln391=)
c.1062G>A (p.Gln354=)
n.765G>A
c.930G>A (p.Gln310=)
n.756G>A
c.609G>A (p.Gln203=)
n.283-5456G>A
c.254G>A
c.915G>A (p.Gln305=)
 ClinVar dbSNP gnomAD v4
15g.67187417G>CCA392958166SMAD3c.477G>C (p.Gln159His)
c.747G>C (p.Gln249His)
c.1173G>C (p.Gln391His)
c.1062G>C (p.Gln354His)
n.765G>C
c.930G>C (p.Gln310His)
n.756G>C
c.609G>C (p.Gln203His)
n.283-5456G>C
c.254G>C
c.915G>C (p.Gln305His)
15g.67187417G=CA2184420917SMAD3c.477G= (p.Gln159=)
c.747G= (p.Gln249=)
c.1173G= (p.Gln391=)
c.1062G= (p.Gln354=)
n.765G=
c.930G= (p.Gln310=)
n.756G=
c.609G= (p.Gln203=)
n.283-5456G=
c.254G=
c.915G= (p.Gln305=)
15g.67187417G>TCA392958167SMAD3c.477G>T (p.Gln159His)
c.747G>T (p.Gln249His)
c.1173G>T (p.Gln391His)
c.1062G>T (p.Gln354His)
n.765G>T
c.930G>T (p.Gln310His)
n.756G>T
c.609G>T (p.Gln203His)
n.283-5456G>T
c.254G>T
c.915G>T (p.Gln305His)
 ClinVar dbSNP
15g.67187418T>ACA392958168SMAD3c.478T>A (p.Ser160Thr)
c.748T>A (p.Ser250Thr)
c.1174T>A (p.Ser392Thr)
c.1063T>A (p.Ser355Thr)
n.766T>A
c.931T>A (p.Ser311Thr)
n.757T>A
c.610T>A (p.Ser204Thr)
n.283-5455T>A
c.255T>A
c.916T>A (p.Ser306Thr)
15g.67187418T>CCA392958169SMAD3c.478T>C (p.Ser160Pro)
c.748T>C (p.Ser250Pro)
c.1174T>C (p.Ser392Pro)
c.1063T>C (p.Ser355Pro)
n.766T>C
c.931T>C (p.Ser311Pro)
n.757T>C
c.610T>C (p.Ser204Pro)
n.283-5455T>C
c.255T>C
c.916T>C (p.Ser306Pro)
 gnomAD v4
15g.67187418T>GCA392958170SMAD3c.478T>G (p.Ser160Ala)
c.748T>G (p.Ser250Ala)
c.1174T>G (p.Ser392Ala)
c.1063T>G (p.Ser355Ala)
n.766T>G
c.931T>G (p.Ser311Ala)
n.757T>G
c.610T>G (p.Ser204Ala)
n.283-5455T>G
c.255T>G
c.916T>G (p.Ser306Ala)
15g.67187419C>ACA392958171SMAD3c.479C>A (p.Ser160Ter)
c.749C>A (p.Ser250Ter)
c.1175C>A (p.Ser392Ter)
c.1064C>A (p.Ser355Ter)
n.767C>A
c.932C>A (p.Ser311Ter)
n.758C>A
c.611C>A (p.Ser204Ter)
n.283-5454C>A
c.256C>A
c.917C>A (p.Ser306Ter)
 COSMIC COSMIC
15g.67187419C=CA2184420918SMAD3c.479C= (p.Ser160=)
c.749C= (p.Ser250=)
c.1175C= (p.Ser392=)
c.1064C= (p.Ser355=)
n.767C=
c.932C= (p.Ser311=)
n.758C=
c.611C= (p.Ser204=)
n.283-5454C=
c.256C=
c.917C= (p.Ser306=)
15g.67187419C>GCA392958172SMAD3c.479C>G (p.Ser160Trp)
c.749C>G (p.Ser250Trp)
c.1175C>G (p.Ser392Trp)
c.1064C>G (p.Ser355Trp)
n.767C>G
c.932C>G (p.Ser311Trp)
n.758C>G
c.611C>G (p.Ser204Trp)
n.283-5454C>G
c.256C>G
c.917C>G (p.Ser306Trp)
15g.67187419C>TCA061579SMAD3c.479C>T (p.Ser160Leu)
c.749C>T (p.Ser250Leu)
c.1175C>T (p.Ser392Leu)
c.1064C>T (p.Ser355Leu)
n.767C>T
c.932C>T (p.Ser311Leu)
n.758C>T
c.611C>T (p.Ser204Leu)
n.283-5454C>T
c.256C>T
c.917C>T (p.Ser306Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.67187420G>ACA061582SMAD3c.480G>A (p.Ser160=)
c.750G>A (p.Ser250=)
c.1176G>A (p.Ser392=)
c.1065G>A (p.Ser355=)
n.768G>A
c.933G>A (p.Ser311=)
n.759G>A
c.612G>A (p.Ser204=)
n.283-5453G>A
c.257G>A
c.918G>A (p.Ser306=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.67187420G>CCA490917602SMAD3c.480G>C (p.Ser160=)
c.750G>C (p.Ser250=)
c.1176G>C (p.Ser392=)
c.1065G>C (p.Ser355=)
n.768G>C
c.933G>C (p.Ser311=)
n.759G>C
c.612G>C (p.Ser204=)
n.283-5453G>C
c.257G>C
c.918G>C (p.Ser306=)
 dbSNP
15g.67187420G=CA2184420919SMAD3c.480G= (p.Ser160=)
c.750G= (p.Ser250=)
c.1176G= (p.Ser392=)
c.1065G= (p.Ser355=)
n.768G=
c.933G= (p.Ser311=)
n.759G=
c.612G= (p.Ser204=)
n.283-5453G=
c.257G=
c.918G= (p.Ser306=)
15g.67187420G>TCA490917604SMAD3c.480G>T (p.Ser160=)
c.750G>T (p.Ser250=)
c.1176G>T (p.Ser392=)
c.1065G>T (p.Ser355=)
n.768G>T
c.933G>T (p.Ser311=)
n.759G>T
c.612G>T (p.Ser204=)
n.283-5453G>T
c.257G>T
c.918G>T (p.Ser306=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.67187421G>ACA392958173SMAD3c.481G>A (p.Val161Ile)
c.751G>A (p.Val251Ile)
c.1177G>A (p.Val393Ile)
c.1066G>A (p.Val356Ile)
n.769G>A
c.934G>A (p.Val312Ile)
n.760G>A
c.613G>A (p.Val205Ile)
n.283-5452G>A
c.258G>A
c.919G>A (p.Val307Ile)
 dbSNP gnomAD v4
15g.67187421G>CCA392958174SMAD3c.481G>C (p.Val161Leu)
c.751G>C (p.Val251Leu)
c.1177G>C (p.Val393Leu)
c.1066G>C (p.Val356Leu)
n.769G>C
c.934G>C (p.Val312Leu)
n.760G>C
c.613G>C (p.Val205Leu)
n.283-5452G>C
c.258G>C
c.919G>C (p.Val307Leu)
15g.67187421G>TCA392958175SMAD3c.481G>T (p.Val161Phe)
c.751G>T (p.Val251Phe)
c.1177G>T (p.Val393Phe)
c.1066G>T (p.Val356Phe)
n.769G>T
c.934G>T (p.Val312Phe)
n.760G>T
c.613G>T (p.Val205Phe)
n.283-5452G>T
c.258G>T
c.919G>T (p.Val307Phe)
15g.67187422T>ACA392958178SMAD3c.482T>A (p.Val161Asp)
c.752T>A (p.Val251Asp)
c.1178T>A (p.Val393Asp)
c.1067T>A (p.Val356Asp)
n.770T>A
c.935T>A (p.Val312Asp)
n.761T>A
c.614T>A (p.Val205Asp)
n.283-5451T>A
c.259T>A
c.920T>A (p.Val307Asp)
 dbSNP
15g.67187422T>CCA392958177SMAD3c.482T>C (p.Val161Ala)
c.752T>C (p.Val251Ala)
c.1178T>C (p.Val393Ala)
c.1067T>C (p.Val356Ala)
n.770T>C
c.935T>C (p.Val312Ala)
n.761T>C
c.614T>C (p.Val205Ala)
n.283-5451T>C
c.259T>C
c.920T>C (p.Val307Ala)
15g.67187422T>GCA392958176SMAD3c.482T>G (p.Val161Gly)
c.752T>G (p.Val251Gly)
c.1178T>G (p.Val393Gly)
c.1067T>G (p.Val356Gly)
n.770T>G
c.935T>G (p.Val312Gly)
n.761T>G
c.614T>G (p.Val205Gly)
n.283-5451T>G
c.259T>G
c.920T>G (p.Val307Gly)
 dbSNP
15g.67187423C>ACA490917609SMAD3c.483C>A (p.Val161=)
c.753C>A (p.Val251=)
c.1179C>A (p.Val393=)
c.1068C>A (p.Val356=)
n.771C>A
c.936C>A (p.Val312=)
n.762C>A
c.615C>A (p.Val205=)
n.283-5450C>A
c.260C>A
c.921C>A (p.Val307=)
 gnomAD v4
15g.67187423C>GCA490917615SMAD3c.483C>G (p.Val161=)
c.753C>G (p.Val251=)
c.1179C>G (p.Val393=)
c.1068C>G (p.Val356=)
n.771C>G
c.936C>G (p.Val312=)
n.762C>G
c.615C>G (p.Val205=)
n.283-5450C>G
c.260C>G
c.921C>G (p.Val307=)
 gnomAD v4
15g.67187423C>TCA490917620SMAD3c.483C>T (p.Val161=)
c.753C>T (p.Val251=)
c.1179C>T (p.Val393=)
c.1068C>T (p.Val356=)
n.771C>T
c.936C>T (p.Val312=)
n.762C>T
c.615C>T (p.Val205=)
n.283-5450C>T
c.260C>T
c.921C>T (p.Val307=)
15g.67187424A>CCA392958181SMAD3c.484A>C (p.Asn162His)
c.754A>C (p.Asn252His)
c.1180A>C (p.Asn394His)
c.1069A>C (p.Asn357His)
n.772A>C
c.937A>C (p.Asn313His)
n.763A>C
c.616A>C (p.Asn206His)
n.283-5449A>C
c.261A>C
c.922A>C (p.Asn308His)
15g.67187424A>GCA392958179SMAD3c.484A>G (p.Asn162Asp)
c.754A>G (p.Asn252Asp)
c.1180A>G (p.Asn394Asp)
c.1069A>G (p.Asn357Asp)
n.772A>G
c.937A>G (p.Asn313Asp)
n.763A>G
c.616A>G (p.Asn206Asp)
n.283-5449A>G
c.261A>G
c.922A>G (p.Asn308Asp)
15g.67187424A>TCA392958180SMAD3c.484A>T (p.Asn162Tyr)
c.754A>T (p.Asn252Tyr)
c.1180A>T (p.Asn394Tyr)
c.1069A>T (p.Asn357Tyr)
n.772A>T
c.937A>T (p.Asn313Tyr)
n.763A>T
c.616A>T (p.Asn206Tyr)
n.283-5449A>T
c.261A>T
c.922A>T (p.Asn308Tyr)
15g.67187425A=CA2184420920SMAD3c.485A= (p.Asn162=)
c.755A= (p.Asn252=)
c.1181A= (p.Asn394=)
c.1070A= (p.Asn357=)
n.773A=
c.938A= (p.Asn313=)
n.764A=
c.617A= (p.Asn206=)
n.283-5448A=
c.262A=
c.923A= (p.Asn308=)
15g.67187425A>CCA392958182SMAD3c.485A>C (p.Asn162Thr)
c.755A>C (p.Asn252Thr)
c.1181A>C (p.Asn394Thr)
c.1070A>C (p.Asn357Thr)
n.773A>C
c.938A>C (p.Asn313Thr)
n.764A>C
c.617A>C (p.Asn206Thr)
n.283-5448A>C
c.262A>C
c.923A>C (p.Asn308Thr)
 gnomAD v4
15g.67187425A>GCA061586SMAD3c.485A>G (p.Asn162Ser)
c.755A>G (p.Asn252Ser)
c.1181A>G (p.Asn394Ser)
c.1070A>G (p.Asn357Ser)
n.773A>G
c.938A>G (p.Asn313Ser)
n.764A>G
c.617A>G (p.Asn206Ser)
n.283-5448A>G
c.262A>G
c.923A>G (p.Asn308Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.67187425A>TCA392958183SMAD3c.485A>T (p.Asn162Ile)
c.755A>T (p.Asn252Ile)
c.1181A>T (p.Asn394Ile)
c.1070A>T (p.Asn357Ile)
n.773A>T
c.938A>T (p.Asn313Ile)
n.764A>T
c.617A>T (p.Asn206Ile)
n.283-5448A>T
c.262A>T
c.923A>T (p.Asn308Ile)
 dbSNP
15g.67187426C>ACA392958184SMAD3c.486C>A (p.Asn162Lys)
c.756C>A (p.Asn252Lys)
c.1182C>A (p.Asn394Lys)
c.1071C>A (p.Asn357Lys)
n.774C>A
c.939C>A (p.Asn313Lys)
n.765C>A
c.618C>A (p.Asn206Lys)
n.283-5447C>A
c.263C>A
c.924C>A (p.Asn308Lys)
15g.67187426C>GCA392958185SMAD3c.486C>G (p.Asn162Lys)
c.756C>G (p.Asn252Lys)
c.1182C>G (p.Asn394Lys)
c.1071C>G (p.Asn357Lys)
n.774C>G
c.939C>G (p.Asn313Lys)
n.765C>G
c.618C>G (p.Asn206Lys)
n.283-5447C>G
c.263C>G
c.924C>G (p.Asn308Lys)
15g.67187426C>TCA490917626SMAD3c.486C>T (p.Asn162=)
c.756C>T (p.Asn252=)
c.1182C>T (p.Asn394=)
c.1071C>T (p.Asn357=)
n.774C>T
c.939C>T (p.Asn313=)
n.765C>T
c.618C>T (p.Asn206=)
n.283-5447C>T
c.263C>T
c.924C>T (p.Asn308=)
 gnomAD v4
15g.67187427C>ACA392958186SMAD3c.487C>A (p.Gln163Lys)
c.757C>A (p.Gln253Lys)
c.1183C>A (p.Gln395Lys)
c.1072C>A (p.Gln358Lys)
n.775C>A
c.940C>A (p.Gln314Lys)
n.766C>A
c.619C>A (p.Gln207Lys)
n.283-5446C>A
c.264C>A
c.925C>A (p.Gln309Lys)
15g.67187427C>GCA392958187SMAD3c.487C>G (p.Gln163Glu)
c.757C>G (p.Gln253Glu)
c.1183C>G (p.Gln395Glu)
c.1072C>G (p.Gln358Glu)
n.775C>G
c.940C>G (p.Gln314Glu)
n.766C>G
c.619C>G (p.Gln207Glu)
n.283-5446C>G
c.264C>G
c.925C>G (p.Gln309Glu)
15g.67187427C>TCA392958188SMAD3c.487C>T (p.Gln163Ter)
c.757C>T (p.Gln253Ter)
c.1183C>T (p.Gln395Ter)
c.1072C>T (p.Gln358Ter)
n.775C>T
c.940C>T (p.Gln314Ter)
n.766C>T
c.619C>T (p.Gln207Ter)
n.283-5446C>T
c.264C>T
c.925C>T (p.Gln309Ter)
 COSMIC COSMIC
15g.67187428A>CCA392958189SMAD3c.488A>C (p.Gln163Pro)
c.758A>C (p.Gln253Pro)
c.1184A>C (p.Gln395Pro)
c.1073A>C (p.Gln358Pro)
n.776A>C
c.941A>C (p.Gln314Pro)
n.767A>C
c.620A>C (p.Gln207Pro)
n.283-5445A>C
c.265A>C
c.926A>C (p.Gln309Pro)
15g.67187428A>GCA392958190SMAD3c.488A>G (p.Gln163Arg)
c.758A>G (p.Gln253Arg)
c.1184A>G (p.Gln395Arg)
c.1073A>G (p.Gln358Arg)
n.776A>G
c.941A>G (p.Gln314Arg)
n.767A>G
c.620A>G (p.Gln207Arg)
n.283-5445A>G
c.265A>G
c.926A>G (p.Gln309Arg)
15g.67187428A>TCA392958191SMAD3c.488A>T (p.Gln163Leu)
c.758A>T (p.Gln253Leu)
c.1184A>T (p.Gln395Leu)
c.1073A>T (p.Gln358Leu)
n.776A>T
c.941A>T (p.Gln314Leu)
n.767A>T
c.620A>T (p.Gln207Leu)
n.283-5445A>T
c.265A>T
c.926A>T (p.Gln309Leu)
 dbSNP
15g.67187429G>ACA490917630SMAD3c.489G>A (p.Gln163=)
c.759G>A (p.Gln253=)
c.1185G>A (p.Gln395=)
c.1074G>A (p.Gln358=)
n.777G>A
c.942G>A (p.Gln314=)
n.768G>A
c.621G>A (p.Gln207=)
n.283-5444G>A
c.266G>A
c.927G>A (p.Gln309=)
15g.67187429G>CCA392958193SMAD3c.489G>C (p.Gln163His)
c.759G>C (p.Gln253His)
c.1185G>C (p.Gln395His)
c.1074G>C (p.Gln358His)
n.777G>C
c.942G>C (p.Gln314His)
n.768G>C
c.621G>C (p.Gln207His)
n.283-5444G>C
c.266G>C
c.927G>C (p.Gln309His)
15g.67187429G>TCA392958192SMAD3c.489G>T (p.Gln163His)
c.759G>T (p.Gln253His)
c.1185G>T (p.Gln395His)
c.1074G>T (p.Gln358His)
n.777G>T
c.942G>T (p.Gln314His)
n.768G>T
c.621G>T (p.Gln207His)
n.283-5444G>T
c.266G>T
c.927G>T (p.Gln309His)
15g.67187430G>ACA392958194SMAD3c.490G>A (p.Gly164Ser)
c.760G>A (p.Gly254Ser)
c.1186G>A (p.Gly396Ser)
c.1075G>A (p.Gly359Ser)
n.778G>A
c.943G>A (p.Gly315Ser)
n.769G>A
c.622G>A (p.Gly208Ser)
n.283-5443G>A
c.267G>A
c.928G>A (p.Gly310Ser)
 gnomAD v4
15g.67187430G>CCA392958195SMAD3c.490G>C (p.Gly164Arg)
c.760G>C (p.Gly254Arg)
c.1186G>C (p.Gly396Arg)
c.1075G>C (p.Gly359Arg)
n.778G>C
c.943G>C (p.Gly315Arg)
n.769G>C
c.622G>C (p.Gly208Arg)
n.283-5443G>C
c.267G>C
c.928G>C (p.Gly310Arg)
15g.67187430G>TCA392958196SMAD3c.490G>T (p.Gly164Cys)
c.760G>T (p.Gly254Cys)
c.1186G>T (p.Gly396Cys)
c.1075G>T (p.Gly359Cys)
n.778G>T
c.943G>T (p.Gly315Cys)
n.769G>T
c.622G>T (p.Gly208Cys)
n.283-5443G>T
c.267G>T
c.928G>T (p.Gly310Cys)
15g.67187431G>ACA392958197SMAD3c.491G>A (p.Gly164Asp)
c.761G>A (p.Gly254Asp)
c.1187G>A (p.Gly396Asp)
c.1076G>A (p.Gly359Asp)
n.779G>A
c.944G>A (p.Gly315Asp)
n.770G>A
c.623G>A (p.Gly208Asp)
n.283-5442G>A
c.268G>A
c.929G>A (p.Gly310Asp)
15g.67187431G>CCA392958198SMAD3c.491G>C (p.Gly164Ala)
c.761G>C (p.Gly254Ala)
c.1187G>C (p.Gly396Ala)
c.1076G>C (p.Gly359Ala)
n.779G>C
c.944G>C (p.Gly315Ala)
n.770G>C
c.623G>C (p.Gly208Ala)
n.283-5442G>C
c.268G>C
c.929G>C (p.Gly310Ala)
15g.67187431G>TCA392958199SMAD3c.491G>T (p.Gly164Val)
c.761G>T (p.Gly254Val)
c.1187G>T (p.Gly396Val)
c.1076G>T (p.Gly359Val)
n.779G>T
c.944G>T (p.Gly315Val)
n.770G>T
c.623G>T (p.Gly208Val)
n.283-5442G>T
c.268G>T
c.929G>T (p.Gly310Val)
15g.67187432C>ACA490917641SMAD3c.492C>A (p.Gly164=)
c.762C>A (p.Gly254=)
c.1188C>A (p.Gly396=)
c.1077C>A (p.Gly359=)
n.780C>A
c.945C>A (p.Gly315=)
n.771C>A
c.624C>A (p.Gly208=)
n.283-5441C>A
c.269C>A
c.930C>A (p.Gly310=)
15g.67187432C>GCA490917643SMAD3c.492C>G (p.Gly164=)
c.762C>G (p.Gly254=)
c.1188C>G (p.Gly396=)
c.1077C>G (p.Gly359=)
n.780C>G
c.945C>G (p.Gly315=)
n.771C>G
c.624C>G (p.Gly208=)
n.283-5441C>G
c.269C>G
c.930C>G (p.Gly310=)
15g.67187432C>TCA490917646SMAD3c.492C>T (p.Gly164=)
c.762C>T (p.Gly254=)
c.1188C>T (p.Gly396=)
c.1077C>T (p.Gly359=)
n.780C>T
c.945C>T (p.Gly315=)
n.771C>T
c.624C>T (p.Gly208=)
n.283-5441C>T
c.269C>T
c.930C>T (p.Gly310=)
15g.67187433T>ACA392958200SMAD3c.493T>A (p.Phe165Ile)
c.763T>A (p.Phe255Ile)
c.1189T>A (p.Phe397Ile)
c.1078T>A (p.Phe360Ile)
n.781T>A
c.946T>A (p.Phe316Ile)
n.772T>A
c.625T>A (p.Phe209Ile)
n.283-5440T>A
c.270T>A
c.931T>A (p.Phe311Ile)
15g.67187433T>CCA392958201SMAD3c.493T>C (p.Phe165Leu)
c.763T>C (p.Phe255Leu)
c.1189T>C (p.Phe397Leu)
c.1078T>C (p.Phe360Leu)
n.781T>C
c.946T>C (p.Phe316Leu)
n.772T>C
c.625T>C (p.Phe209Leu)
n.283-5440T>C
c.270T>C
c.931T>C (p.Phe311Leu)
15g.67187433T>GCA392958202SMAD3c.493T>G (p.Phe165Val)
c.763T>G (p.Phe255Val)
c.1189T>G (p.Phe397Val)
c.1078T>G (p.Phe360Val)
n.781T>G
c.946T>G (p.Phe316Val)
n.772T>G
c.625T>G (p.Phe209Val)
n.283-5440T>G
c.270T>G
c.931T>G (p.Phe311Val)
15g.67187435dupCA658820907SMAD3c.495dup (p.Glu166Ter)
c.765dup (p.Glu256Ter)
c.1191dup (p.Glu398Ter)
c.1080dup (p.Glu361Ter)
n.783dup
c.948dup (p.Glu317Ter)
n.774dup
c.627dup (p.Glu210Ter)
n.283-5438dup
c.272dup
c.933dup (p.Glu312Ter)
15g.67187434T>ACA392958203SMAD3c.494T>A (p.Phe165Tyr)
c.764T>A (p.Phe255Tyr)
c.1190T>A (p.Phe397Tyr)
c.1079T>A (p.Phe360Tyr)
n.782T>A
c.947T>A (p.Phe316Tyr)
n.773T>A
c.626T>A (p.Phe209Tyr)
n.283-5439T>A
c.271T>A
c.932T>A (p.Phe311Tyr)
15g.67187434T>CCA392958204SMAD3c.494T>C (p.Phe165Ser)
c.764T>C (p.Phe255Ser)
c.1190T>C (p.Phe397Ser)
c.1079T>C (p.Phe360Ser)
n.782T>C
c.947T>C (p.Phe316Ser)
n.773T>C
c.626T>C (p.Phe209Ser)
n.283-5439T>C
c.271T>C
c.932T>C (p.Phe311Ser)
15g.67187434T>GCA392958205SMAD3c.494T>G (p.Phe165Cys)
c.764T>G (p.Phe255Cys)
c.1190T>G (p.Phe397Cys)
c.1079T>G (p.Phe360Cys)
n.782T>G
c.947T>G (p.Phe316Cys)
n.773T>G
c.626T>G (p.Phe209Cys)
n.283-5439T>G
c.271T>G
c.932T>G (p.Phe311Cys)
15g.67187435T>ACA392958206SMAD3c.495T>A (p.Phe165Leu)
c.765T>A (p.Phe255Leu)
c.1191T>A (p.Phe397Leu)
c.1080T>A (p.Phe360Leu)
n.783T>A
c.948T>A (p.Phe316Leu)
n.774T>A
c.627T>A (p.Phe209Leu)
n.283-5438T>A
c.272T>A
c.933T>A (p.Phe311Leu)
15g.67187435T>CCA490917660SMAD3c.495T>C (p.Phe165=)
c.765T>C (p.Phe255=)
c.1191T>C (p.Phe397=)
c.1080T>C (p.Phe360=)
n.783T>C
c.948T>C (p.Phe316=)
n.774T>C
c.627T>C (p.Phe209=)
n.283-5438T>C
c.272T>C
c.933T>C (p.Phe311=)
15g.67187435T>GCA392958207SMAD3c.495T>G (p.Phe165Leu)
c.765T>G (p.Phe255Leu)
c.1191T>G (p.Phe397Leu)
c.1080T>G (p.Phe360Leu)
n.783T>G
c.948T>G (p.Phe316Leu)
n.774T>G
c.627T>G (p.Phe209Leu)
n.283-5438T>G
c.272T>G
c.933T>G (p.Phe311Leu)
 ClinVar dbSNP gnomAD v4
15g.67187436G>ACA16621675SMAD3c.496G>A (p.Glu166Lys)
c.766G>A (p.Glu256Lys)
c.1192G>A (p.Glu398Lys)
c.1081G>A (p.Glu361Lys)
n.784G>A
c.949G>A (p.Glu317Lys)
n.775G>A
c.628G>A (p.Glu210Lys)
n.283-5437G>A
c.273G>A
c.934G>A (p.Glu312Lys)
 ClinVar dbSNP
15g.67187436G>CCA324625SMAD3c.496G>C (p.Glu166Gln)
c.766G>C (p.Glu256Gln)
c.1192G>C (p.Glu398Gln)
c.1081G>C (p.Glu361Gln)
n.784G>C
c.949G>C (p.Glu317Gln)
n.775G>C
c.628G>C (p.Glu210Gln)
n.283-5437G>C
c.273G>C
c.934G>C (p.Glu312Gln)
 ClinVar dbSNP
15g.67187436G=CA2184420921SMAD3c.496G= (p.Glu166=)
c.766G= (p.Glu256=)
c.1192G= (p.Glu398=)
c.1081G= (p.Glu361=)
n.784G=
c.949G= (p.Glu317=)
n.775G=
c.628G= (p.Glu210=)
n.283-5437G=
c.273G=
c.934G= (p.Glu312=)
15g.67187436G>TCA020037SMAD3c.496G>T (p.Glu166Ter)
c.766G>T (p.Glu256Ter)
c.1192G>T (p.Glu398Ter)
c.1081G>T (p.Glu361Ter)
n.784G>T
c.949G>T (p.Glu317Ter)
n.775G>T
c.628G>T (p.Glu210Ter)
n.283-5437G>T
c.273G>T
c.934G>T (p.Glu312Ter)
 ClinVar dbSNP
15g.67187437A>CCA392958208SMAD3c.497A>C (p.Glu166Ala)
c.767A>C (p.Glu256Ala)
c.1193A>C (p.Glu398Ala)
c.1082A>C (p.Glu361Ala)
n.785A>C
c.950A>C (p.Glu317Ala)
n.776A>C
c.629A>C (p.Glu210Ala)
n.283-5436A>C
c.274A>C
c.935A>C (p.Glu312Ala)
15g.67187437A>GCA392958209SMAD3c.497A>G (p.Glu166Gly)
c.767A>G (p.Glu256Gly)
c.1193A>G (p.Glu398Gly)
c.1082A>G (p.Glu361Gly)
n.785A>G
c.950A>G (p.Glu317Gly)
n.776A>G
c.629A>G (p.Glu210Gly)
n.283-5436A>G
c.274A>G
c.935A>G (p.Glu312Gly)
 dbSNP
15g.67187437A>TCA392958210SMAD3c.497A>T (p.Glu166Val)
c.767A>T (p.Glu256Val)
c.1193A>T (p.Glu398Val)
c.1082A>T (p.Glu361Val)
n.785A>T
c.950A>T (p.Glu317Val)
n.776A>T
c.629A>T (p.Glu210Val)
n.283-5436A>T
c.274A>T
c.935A>T (p.Glu312Val)
 dbSNP
15g.67187438G>ACA490917666SMAD3c.498G>A (p.Glu166=)
c.768G>A (p.Glu256=)
c.1194G>A (p.Glu398=)
c.1083G>A (p.Glu361=)
n.786G>A
c.951G>A (p.Glu317=)
n.777G>A
c.630G>A (p.Glu210=)
n.283-5435G>A
c.275G>A
c.936G>A (p.Glu312=)
 ClinVar dbSNP gnomAD v4
15g.67187438G>CCA392958211SMAD3c.498G>C (p.Glu166Asp)
c.768G>C (p.Glu256Asp)
c.1194G>C (p.Glu398Asp)
c.1083G>C (p.Glu361Asp)
n.786G>C
c.951G>C (p.Glu317Asp)
n.777G>C
c.630G>C (p.Glu210Asp)
n.283-5435G>C
c.275G>C
c.936G>C (p.Glu312Asp)
15g.67187438G=CA2184420922SMAD3c.498G= (p.Glu166=)
c.768G= (p.Glu256=)
c.1194G= (p.Glu398=)
c.1083G= (p.Glu361=)
n.786G=
c.951G= (p.Glu317=)
n.777G=
c.630G= (p.Glu210=)
n.283-5435G=
c.275G=
c.936G= (p.Glu312=)
15g.67187438G>TCA392958212SMAD3c.498G>T (p.Glu166Asp)
c.768G>T (p.Glu256Asp)
c.1194G>T (p.Glu398Asp)
c.1083G>T (p.Glu361Asp)
n.786G>T
c.951G>T (p.Glu317Asp)
n.777G>T
c.630G>T (p.Glu210Asp)
n.283-5435G>T
c.275G>T
c.936G>T (p.Glu312Asp)
15g.67187439G>ACA392958215SMAD3c.499G>A (p.Ala167Thr)
c.769G>A (p.Ala257Thr)
c.1195G>A (p.Ala399Thr)
c.1084G>A (p.Ala362Thr)
n.787G>A
c.952G>A (p.Ala318Thr)
n.778G>A
c.631G>A (p.Ala211Thr)
n.283-5434G>A
c.276G>A
c.937G>A (p.Ala313Thr)
15g.67187439G>CCA392958214SMAD3c.499G>C (p.Ala167Pro)
c.769G>C (p.Ala257Pro)
c.1195G>C (p.Ala399Pro)
c.1084G>C (p.Ala362Pro)
n.787G>C
c.952G>C (p.Ala318Pro)
n.778G>C
c.631G>C (p.Ala211Pro)
n.283-5434G>C
c.276G>C
c.937G>C (p.Ala313Pro)
 ClinVar
15g.67187439G>TCA392958213SMAD3c.499G>T (p.Ala167Ser)
c.769G>T (p.Ala257Ser)
c.1195G>T (p.Ala399Ser)
c.1084G>T (p.Ala362Ser)
n.787G>T
c.952G>T (p.Ala318Ser)
n.778G>T
c.631G>T (p.Ala211Ser)
n.283-5434G>T
c.276G>T
c.937G>T (p.Ala313Ser)
15g.67187440C>ACA392958216SMAD3c.500C>A (p.Ala167Asp)
c.770C>A (p.Ala257Asp)
c.1196C>A (p.Ala399Asp)
c.1085C>A (p.Ala362Asp)
n.788C>A
c.953C>A (p.Ala318Asp)
n.779C>A
c.632C>A (p.Ala211Asp)
n.283-5433C>A
c.277C>A
c.938C>A (p.Ala313Asp)
15g.67187440C=CA2184420923SMAD3c.500C= (p.Ala167=)
c.770C= (p.Ala257=)
c.1196C= (p.Ala399=)
c.1085C= (p.Ala362=)
n.788C=
c.953C= (p.Ala318=)
n.779C=
c.632C= (p.Ala211=)
n.283-5433C=
c.277C=
c.938C= (p.Ala313=)
15g.67187440C>GCA392958217SMAD3c.500C>G (p.Ala167Gly)
c.770C>G (p.Ala257Gly)
c.1196C>G (p.Ala399Gly)
c.1085C>G (p.Ala362Gly)
n.788C>G
c.953C>G (p.Ala318Gly)
n.779C>G
c.632C>G (p.Ala211Gly)
n.283-5433C>G
c.277C>G
c.938C>G (p.Ala313Gly)
15g.67187440C>TCA392958218SMAD3c.500C>T (p.Ala167Val)
c.770C>T (p.Ala257Val)
c.1196C>T (p.Ala399Val)
c.1085C>T (p.Ala362Val)
n.788C>T
c.953C>T (p.Ala318Val)
n.779C>T
c.632C>T (p.Ala211Val)
n.283-5433C>T
c.277C>T
c.938C>T (p.Ala313Val)
15g.67187442_67187445delCA2739269521SMAD3c.502_505del (p.Val168ThrfsTer3)
c.772_775del (p.Val258ThrfsTer3)
c.1198_1201del (p.Val400ThrfsTer3)
c.1087_1090del (p.Val363ThrfsTer3)
n.790_793del
c.955_958del (p.Val319ThrfsTer3)
n.781_784del
c.634_637del (p.Val212=)
n.283-5431_283-5428del
c.279_282del
c.940_943del (p.Val314ThrfsTer3)
 ClinVar
15g.67187441T>ACA490917676SMAD3c.501T>A (p.Ala167=)
c.771T>A (p.Ala257=)
c.1197T>A (p.Ala399=)
c.1086T>A (p.Ala362=)
n.789T>A
c.954T>A (p.Ala318=)
n.780T>A
c.633T>A (p.Ala211=)
n.283-5432T>A
c.278T>A
c.939T>A (p.Ala313=)
15g.67187441T>CCA490917677SMAD3c.501T>C (p.Ala167=)
c.771T>C (p.Ala257=)
c.1197T>C (p.Ala399=)
c.1086T>C (p.Ala362=)
n.789T>C
c.954T>C (p.Ala318=)
n.780T>C
c.633T>C (p.Ala211=)
n.283-5432T>C
c.278T>C
c.939T>C (p.Ala313=)
15g.67187441T>GCA490917679SMAD3c.501T>G (p.Ala167=)
c.771T>G (p.Ala257=)
c.1197T>G (p.Ala399=)
c.1086T>G (p.Ala362=)
n.789T>G
c.954T>G (p.Ala318=)
n.780T>G
c.633T>G (p.Ala211=)
n.283-5432T>G
c.278T>G
c.939T>G (p.Ala313=)
15g.67187441_67187453dupCA16619994SMAD3c.501_513dup (p.Thr172CysfsTer?)
c.771_783dup (p.Thr262CysfsTer?)
c.1197_1209dup (p.Thr404CysfsTer?)
c.1086_1098dup (p.Thr367CysfsTer?)
n.789_801dup
c.954_966dup (p.Thr323CysfsTer?)
n.780_792dup
n.283-5432_283-5420dup
c.278_290dup
c.939_951dup (p.Thr318CysfsTer?)
 ClinVar dbSNP
15g.67187442G>ACA392958219SMAD3c.502G>A (p.Val168Ile)
c.772G>A (p.Val258Ile)
c.1198G>A (p.Val400Ile)
c.1087G>A (p.Val363Ile)
n.790G>A
c.955G>A (p.Val319Ile)
n.781G>A
c.634G>A (p.Val212Ile)
n.283-5431G>A
c.279G>A
c.940G>A (p.Val314Ile)
 ClinVar dbSNP gnomAD v4
15g.67187442G>CCA392958220SMAD3c.502G>C (p.Val168Leu)
c.772G>C (p.Val258Leu)
c.1198G>C (p.Val400Leu)
c.1087G>C (p.Val363Leu)
n.790G>C
c.955G>C (p.Val319Leu)
n.781G>C
c.634G>C (p.Val212Leu)
n.283-5431G>C
c.279G>C
c.940G>C (p.Val314Leu)
15g.67187442G>TCA392958221SMAD3c.502G>T (p.Val168Phe)
c.772G>T (p.Val258Phe)
c.1198G>T (p.Val400Phe)
c.1087G>T (p.Val363Phe)
n.790G>T
c.955G>T (p.Val319Phe)
n.781G>T
c.634G>T (p.Val212Phe)
n.283-5431G>T
c.279G>T
c.940G>T (p.Val314Phe)
15g.67187443T>ACA392958224SMAD3c.503T>A (p.Val168Asp)
c.773T>A (p.Val258Asp)
c.1199T>A (p.Val400Asp)
c.1088T>A (p.Val363Asp)
n.791T>A
c.956T>A (p.Val319Asp)
n.782T>A
c.635T>A (p.Val212Asp)
n.283-5430T>A
c.280T>A
c.941T>A (p.Val314Asp)
15g.67187443T>CCA392958222SMAD3c.503T>C (p.Val168Ala)
c.773T>C (p.Val258Ala)
c.1199T>C (p.Val400Ala)
c.1088T>C (p.Val363Ala)
n.791T>C
c.956T>C (p.Val319Ala)
n.782T>C
c.635T>C (p.Val212Ala)
n.283-5430T>C
c.280T>C
c.941T>C (p.Val314Ala)
 ClinVar
15g.67187443T>GCA392958223SMAD3c.503T>G (p.Val168Gly)
c.773T>G (p.Val258Gly)
c.1199T>G (p.Val400Gly)
c.1088T>G (p.Val363Gly)
n.791T>G
c.956T>G (p.Val319Gly)
n.782T>G
c.635T>G (p.Val212Gly)
n.283-5430T>G
c.280T>G
c.941T>G (p.Val314Gly)
 ClinVar dbSNP
15g.67187443T=CA2184420924SMAD3c.503T= (p.Val168=)
c.773T= (p.Val258=)
c.1199T= (p.Val400=)
c.1088T= (p.Val363=)
n.791T=
c.956T= (p.Val319=)
n.782T=
c.635T= (p.Val212=)
n.283-5430T=
c.280T=
c.941T= (p.Val314=)
15g.67187444C>ACA490917690SMAD3c.504C>A (p.Val168=)
c.774C>A (p.Val258=)
c.1200C>A (p.Val400=)
c.1089C>A (p.Val363=)
n.792C>A
c.957C>A (p.Val319=)
n.783C>A
c.636C>A (p.Val212=)
n.283-5429C>A
c.281C>A
c.942C>A (p.Val314=)
15g.67187444C=CA2184420925SMAD3c.504C= (p.Val168=)
c.774C= (p.Val258=)
c.1200C= (p.Val400=)
c.1089C= (p.Val363=)
n.792C=
c.957C= (p.Val319=)
n.783C=
c.636C= (p.Val212=)
n.283-5429C=
c.281C=
c.942C= (p.Val314=)
15g.67187444C>GCA490917691SMAD3c.504C>G (p.Val168=)
c.774C>G (p.Val258=)
c.1200C>G (p.Val400=)
c.1089C>G (p.Val363=)
n.792C>G
c.957C>G (p.Val319=)
n.783C>G
c.636C>G (p.Val212=)
n.283-5429C>G
c.281C>G
c.942C>G (p.Val314=)
15g.67187444C>TCA490917692SMAD3c.504C>T (p.Val168=)
c.774C>T (p.Val258=)
c.1200C>T (p.Val400=)
c.1089C>T (p.Val363=)
n.792C>T
c.957C>T (p.Val319=)
n.783C>T
c.636C>T (p.Val212=)
n.283-5429C>T
c.281C>T
c.942C>T (p.Val314=)
 dbSNP
15g.67187445T>ACA392958225SMAD3c.505T>A (p.Tyr169Asn)
c.775T>A (p.Tyr259Asn)
c.1201T>A (p.Tyr401Asn)
c.1090T>A (p.Tyr364Asn)
n.793T>A
c.958T>A (p.Tyr320Asn)
n.784T>A
c.637T>A (p.Tyr213Asn)
n.283-5428T>A
c.282T>A
c.943T>A (p.Tyr315Asn)
15g.67187445T>CCA392958226SMAD3c.505T>C (p.Tyr169His)
c.775T>C (p.Tyr259His)
c.1201T>C (p.Tyr401His)
c.1090T>C (p.Tyr364His)
n.793T>C
c.958T>C (p.Tyr320His)
n.784T>C
c.637T>C (p.Tyr213His)
n.283-5428T>C
c.282T>C
c.943T>C (p.Tyr315His)
15g.67187445T>GCA392958227SMAD3c.505T>G (p.Tyr169Asp)
c.775T>G (p.Tyr259Asp)
c.1201T>G (p.Tyr401Asp)
c.1090T>G (p.Tyr364Asp)
n.793T>G
c.958T>G (p.Tyr320Asp)
n.784T>G
c.637T>G (p.Tyr213Asp)
n.283-5428T>G
c.282T>G
c.943T>G (p.Tyr315Asp)
15g.67187446A=CA2184420926SMAD3c.506A= (p.Tyr169=)
c.776A= (p.Tyr259=)
c.1202A= (p.Tyr401=)
c.1091A= (p.Tyr364=)
n.794A=
c.959A= (p.Tyr320=)
n.785A=
c.638A= (p.Tyr213=)
n.283-5427A=
c.283A=
c.944A= (p.Tyr315=)
15g.67187446A>CCA392958228SMAD3c.506A>C (p.Tyr169Ser)
c.776A>C (p.Tyr259Ser)
c.1202A>C (p.Tyr401Ser)
c.1091A>C (p.Tyr364Ser)
n.794A>C
c.959A>C (p.Tyr320Ser)
n.785A>C
c.638A>C (p.Tyr213Ser)
n.283-5427A>C
c.283A>C
c.944A>C (p.Tyr315Ser)
15g.67187446A>GCA10587878SMAD3c.506A>G (p.Tyr169Cys)
c.776A>G (p.Tyr259Cys)
c.1202A>G (p.Tyr401Cys)
c.1091A>G (p.Tyr364Cys)
n.794A>G
c.959A>G (p.Tyr320Cys)
n.785A>G
c.638A>G (p.Tyr213Cys)
n.283-5427A>G
c.283A>G
c.944A>G (p.Tyr315Cys)
 ClinVar dbSNP COSMIC COSMIC
15g.67187446A>TCA392958229SMAD3c.506A>T (p.Tyr169Phe)
c.776A>T (p.Tyr259Phe)
c.1202A>T (p.Tyr401Phe)
c.1091A>T (p.Tyr364Phe)
n.794A>T
c.959A>T (p.Tyr320Phe)
n.785A>T
c.638A>T (p.Tyr213Phe)
n.283-5427A>T
c.283A>T
c.944A>T (p.Tyr315Phe)
15g.67187447C>ACA392958230SMAD3c.507C>A (p.Tyr169Ter)
c.777C>A (p.Tyr259Ter)
c.1203C>A (p.Tyr401Ter)
c.1092C>A (p.Tyr364Ter)
n.795C>A
c.960C>A (p.Tyr320Ter)
n.786C>A
c.639C>A (p.Tyr213Ter)
n.283-5426C>A
c.284C>A
c.945C>A (p.Tyr315Ter)
15g.67187447C=CA2184420927SMAD3c.507C= (p.Tyr169=)
c.777C= (p.Tyr259=)
c.1203C= (p.Tyr401=)
c.1092C= (p.Tyr364=)
n.795C=
c.960C= (p.Tyr320=)
n.786C=
c.639C= (p.Tyr213=)
n.283-5426C=
c.284C=
c.945C= (p.Tyr315=)
15g.67187447C>GCA392958231SMAD3c.507C>G (p.Tyr169Ter)
c.777C>G (p.Tyr259Ter)
c.1203C>G (p.Tyr401Ter)
c.1092C>G (p.Tyr364Ter)
n.795C>G
c.960C>G (p.Tyr320Ter)
n.786C>G
c.639C>G (p.Tyr213Ter)
n.283-5426C>G
c.284C>G
c.945C>G (p.Tyr315Ter)
15g.67187447C>TCA061588SMAD3c.507C>T (p.Tyr169=)
c.777C>T (p.Tyr259=)
c.1203C>T (p.Tyr401=)
c.1092C>T (p.Tyr364=)
n.795C>T
c.960C>T (p.Tyr320=)
n.786C>T
c.639C>T (p.Tyr213=)
n.283-5426C>T
c.284C>T
c.945C>T (p.Tyr315=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.67187448C>ACA392958232SMAD3c.508C>A (p.Gln170Lys)
c.778C>A (p.Gln260Lys)
c.1204C>A (p.Gln402Lys)
c.1093C>A (p.Gln365Lys)
n.796C>A
c.961C>A (p.Gln321Lys)
n.787C>A
n.283-5425C>A
c.285C>A
c.946C>A (p.Gln316Lys)
 COSMIC COSMIC
15g.67187448C>GCA392958233SMAD3c.508C>G (p.Gln170Glu)
c.778C>G (p.Gln260Glu)
c.1204C>G (p.Gln402Glu)
c.1093C>G (p.Gln365Glu)
n.796C>G
c.961C>G (p.Gln321Glu)
n.787C>G
n.283-5425C>G
c.285C>G
c.946C>G (p.Gln316Glu)
15g.67187448C>TCA392958234SMAD3c.508C>T (p.Gln170Ter)
c.778C>T (p.Gln260Ter)
c.1204C>T (p.Gln402Ter)
c.1093C>T (p.Gln365Ter)
n.796C>T
c.961C>T (p.Gln321Ter)
n.787C>T
n.283-5425C>T
c.285C>T
c.946C>T (p.Gln316Ter)
15g.67187449A=CA2184420928SMAD3c.509A= (p.Gln170=)
c.779A= (p.Gln260=)
c.1205A= (p.Gln402=)
c.1094A= (p.Gln365=)
n.797A=
c.962A= (p.Gln321=)
n.788A=
n.283-5424A=
c.286A=
c.947A= (p.Gln316=)
15g.67187449A>CCA392958235SMAD3c.509A>C (p.Gln170Pro)
c.779A>C (p.Gln260Pro)
c.1205A>C (p.Gln402Pro)
c.1094A>C (p.Gln365Pro)
n.797A>C
c.962A>C (p.Gln321Pro)
n.788A>C
n.283-5424A>C
c.286A>C
c.947A>C (p.Gln316Pro)
15g.67187449A>GCA392958237SMAD3c.509A>G (p.Gln170Arg)
c.779A>G (p.Gln260Arg)
c.1205A>G (p.Gln402Arg)
c.1094A>G (p.Gln365Arg)
n.797A>G
c.962A>G (p.Gln321Arg)
n.788A>G
n.283-5424A>G
c.286A>G
c.947A>G (p.Gln316Arg)
15g.67187449A>TCA392958236SMAD3c.509A>T (p.Gln170Leu)
c.779A>T (p.Gln260Leu)
c.1205A>T (p.Gln402Leu)
c.1094A>T (p.Gln365Leu)
n.797A>T
c.962A>T (p.Gln321Leu)
n.788A>T
n.283-5424A>T
c.286A>T
c.947A>T (p.Gln316Leu)
 ClinVar dbSNP
15g.67187450G>ACA490917720SMAD3c.510G>A (p.Gln170=)
c.780G>A (p.Gln260=)
c.1206G>A (p.Gln402=)
c.1095G>A (p.Gln365=)
n.798G>A
c.963G>A (p.Gln321=)
n.789G>A
n.283-5423G>A
c.287G>A
c.948G>A (p.Gln316=)
 gnomAD v4
15g.67187450G>CCA392958238SMAD3c.510G>C (p.Gln170His)
c.780G>C (p.Gln260His)
c.1206G>C (p.Gln402His)
c.1095G>C (p.Gln365His)
n.798G>C
c.963G>C (p.Gln321His)
n.789G>C
n.283-5423G>C
c.287G>C
c.948G>C (p.Gln316His)
15g.67187450G>TCA392958239SMAD3c.510G>T (p.Gln170His)
c.780G>T (p.Gln260His)
c.1206G>T (p.Gln402His)
c.1095G>T (p.Gln365His)
n.798G>T
c.963G>T (p.Gln321His)
n.789G>T
n.283-5423G>T
c.287G>T
c.948G>T (p.Gln316His)
 gnomAD v4
15g.67187451T>ACA392958240SMAD3c.511T>A (p.Leu171Met)
c.781T>A (p.Leu261Met)
c.1207T>A (p.Leu403Met)
c.1096T>A (p.Leu366Met)
n.799T>A
c.964T>A (p.Leu322Met)
n.790T>A
n.283-5422T>A
c.288T>A
c.949T>A (p.Leu317Met)
15g.67187451T>CCA490917726SMAD3c.511T>C (p.Leu171=)
c.781T>C (p.Leu261=)
c.1207T>C (p.Leu403=)
c.1096T>C (p.Leu366=)
n.799T>C
c.964T>C (p.Leu322=)
n.790T>C
n.283-5422T>C
c.288T>C
c.949T>C (p.Leu317=)
15g.67187451T>GCA392958241SMAD3c.511T>G (p.Leu171Val)
c.781T>G (p.Leu261Val)
c.1207T>G (p.Leu403Val)
c.1096T>G (p.Leu366Val)
n.799T>G
c.964T>G (p.Leu322Val)
n.790T>G
n.283-5422T>G
c.288T>G
c.949T>G (p.Leu317Val)
15g.67187451_67187452delCA2695220929SMAD3c.511_512del (p.Leu171AspfsTer?)
c.781_782del (p.Leu261AspfsTer?)
c.1207_1208del (p.Leu403AspfsTer?)
c.1096_1097del (p.Leu366AspfsTer?)
n.799_800del
c.964_965del (p.Leu322AspfsTer?)
n.790_791del
n.283-5422_283-5421del
c.288_289del
c.949_950del (p.Leu317AspfsTer?)
15g.67187452T>ACA392958242SMAD3c.512T>A (p.Leu171Ter)
c.782T>A (p.Leu261Ter)
c.1208T>A (p.Leu403Ter)
c.1097T>A (p.Leu366Ter)
n.800T>A
c.965T>A (p.Leu322Ter)
n.791T>A
n.283-5421T>A
c.289T>A
c.950T>A (p.Leu317Ter)
15g.67187452T>CCA392958243SMAD3c.512T>C (p.Leu171Ser)
c.782T>C (p.Leu261Ser)
c.1208T>C (p.Leu403Ser)
c.1097T>C (p.Leu366Ser)
n.800T>C
c.965T>C (p.Leu322Ser)
n.791T>C
n.283-5421T>C
c.289T>C
c.950T>C (p.Leu317Ser)
15g.67187452T>GCA392958244SMAD3c.512T>G (p.Leu171Trp)
c.782T>G (p.Leu261Trp)
c.1208T>G (p.Leu403Trp)
c.1097T>G (p.Leu366Trp)
n.800T>G
c.965T>G (p.Leu322Trp)
n.791T>G
n.283-5421T>G
c.289T>G
c.950T>G (p.Leu317Trp)
15g.67187453G>ACA490917734SMAD3c.513G>A (p.Leu171=)
c.783G>A (p.Leu261=)
c.1209G>A (p.Leu403=)
c.1098G>A (p.Leu366=)
n.801G>A
c.966G>A (p.Leu322=)
n.792G>A
n.283-5420G>A
c.290G>A
c.951G>A (p.Leu317=)
15g.67187453G>CCA392958245SMAD3c.513G>C (p.Leu171Phe)
c.783G>C (p.Leu261Phe)
c.1209G>C (p.Leu403Phe)
c.1098G>C (p.Leu366Phe)
n.801G>C
c.966G>C (p.Leu322Phe)
n.792G>C
n.283-5420G>C
c.290G>C
c.951G>C (p.Leu317Phe)
15g.67187453G>TCA392958246SMAD3c.513G>T (p.Leu171Phe)
c.783G>T (p.Leu261Phe)
c.1209G>T (p.Leu403Phe)
c.1098G>T (p.Leu366Phe)
n.801G>T
c.966G>T (p.Leu322Phe)
n.792G>T
n.283-5420G>T
c.290G>T
c.951G>T (p.Leu317Phe)
 gnomAD v4
15g.67187454A>CCA392958247SMAD3c.514A>C (p.Thr172Pro)
c.784A>C (p.Thr262Pro)
c.1210A>C (p.Thr404Pro)
c.1099A>C (p.Thr367Pro)
n.802A>C
c.967A>C (p.Thr323Pro)
n.793A>C
n.283-5419A>C
c.291A>C
c.952A>C (p.Thr318Pro)
 ClinVar
15g.67187454A>GCA392958248SMAD3c.514A>G (p.Thr172Ala)
c.784A>G (p.Thr262Ala)
c.1210A>G (p.Thr404Ala)
c.1099A>G (p.Thr367Ala)
n.802A>G
c.967A>G (p.Thr323Ala)
n.793A>G
n.283-5419A>G
c.291A>G
c.952A>G (p.Thr318Ala)
15g.67187454A>TCA392958249SMAD3c.514A>T (p.Thr172Ser)
c.784A>T (p.Thr262Ser)
c.1210A>T (p.Thr404Ser)
c.1099A>T (p.Thr367Ser)
n.802A>T
c.967A>T (p.Thr323Ser)
n.793A>T
n.283-5419A>T
c.291A>T
c.952A>T (p.Thr318Ser)
15g.67187455C>ACA392958252SMAD3c.515C>A (p.Thr172Asn)
c.785C>A (p.Thr262Asn)
c.1211C>A (p.Thr404Asn)
c.1100C>A (p.Thr367Asn)
n.803C>A
c.968C>A (p.Thr323Asn)
n.794C>A
n.283-5418C>A
c.292C>A
c.953C>A (p.Thr318Asn)
15g.67187455C>GCA392958250SMAD3c.515C>G (p.Thr172Ser)
c.785C>G (p.Thr262Ser)
c.1211C>G (p.Thr404Ser)
c.1100C>G (p.Thr367Ser)
n.803C>G
c.968C>G (p.Thr323Ser)
n.794C>G
n.283-5418C>G
c.292C>G
c.953C>G (p.Thr318Ser)
15g.67187455C>TCA392958251SMAD3c.515C>T (p.Thr172Ile)
c.785C>T (p.Thr262Ile)
c.1211C>T (p.Thr404Ile)
c.1100C>T (p.Thr367Ile)
n.803C>T
c.968C>T (p.Thr323Ile)
n.794C>T
n.283-5418C>T
c.292C>T
c.953C>T (p.Thr318Ile)
 dbSNP
15g.67187456C>ACA490917745SMAD3c.516C>A (p.Thr172=)
c.786C>A (p.Thr262=)
c.1212C>A (p.Thr404=)
c.1101C>A (p.Thr367=)
n.804C>A
c.969C>A (p.Thr323=)
n.795C>A
n.283-5417C>A
c.293C>A
c.954C>A (p.Thr318=)
15g.67187456C>GCA490917748SMAD3c.516C>G (p.Thr172=)
c.786C>G (p.Thr262=)
c.1212C>G (p.Thr404=)
c.1101C>G (p.Thr367=)
n.804C>G
c.969C>G (p.Thr323=)
n.795C>G
n.283-5417C>G
c.293C>G
c.954C>G (p.Thr318=)
15g.67187456C>TCA490917749SMAD3c.516C>T (p.Thr172=)
c.786C>T (p.Thr262=)
c.1212C>T (p.Thr404=)
c.1101C>T (p.Thr367=)
n.804C>T
c.969C>T (p.Thr323=)
n.795C>T
n.283-5417C>T
c.293C>T
c.954C>T (p.Thr318=)
15g.67187457C>ACA061596SMAD3c.517C>A (p.Arg173=)
c.787C>A (p.Arg263=)
c.1213C>A (p.Arg405=)
c.1102C>A (p.Arg368=)
n.805C>A
c.970C>A (p.Arg324=)
n.796C>A
n.283-5416C>A
c.294C>A
c.955C>A (p.Arg319=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.67187457C=CA2184420929SMAD3c.517C= (p.Arg173=)
c.787C= (p.Arg263=)
c.1213C= (p.Arg405=)
c.1102C= (p.Arg368=)
n.805C=
c.970C= (p.Arg324=)
n.796C=
n.283-5416C=
c.294C=
c.955C= (p.Arg319=)
15g.67187457C>GCA392958253SMAD3c.517C>G (p.Arg173Gly)
c.787C>G (p.Arg263Gly)
c.1213C>G (p.Arg405Gly)
c.1102C>G (p.Arg368Gly)
n.805C>G
c.970C>G (p.Arg324Gly)
n.796C>G
n.283-5416C>G
c.294C>G
c.955C>G (p.Arg319Gly)
 ClinVar dbSNP
15g.67187457C>TCA16619995SMAD3c.517C>T (p.Arg173Ter)
c.787C>T (p.Arg263Ter)
c.1213C>T (p.Arg405Ter)
c.1102C>T (p.Arg368Ter)
n.805C>T
c.970C>T (p.Arg324Ter)
n.796C>T
n.283-5416C>T
c.294C>T
c.955C>T (p.Arg319Ter)
 ClinVar dbSNP COSMIC COSMIC
15g.67187458G>ACA392958254SMAD3c.518G>A (p.Arg173Gln)
c.788G>A (p.Arg263Gln)
c.1214G>A (p.Arg405Gln)
c.1103G>A (p.Arg368Gln)
n.806G>A
c.971G>A (p.Arg324Gln)
n.797G>A
n.283-5415G>A
c.295G>A
c.956G>A (p.Arg319Gln)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
15g.67187458G>CCA392958255SMAD3c.518G>C (p.Arg173Pro)
c.788G>C (p.Arg263Pro)
c.1214G>C (p.Arg405Pro)
c.1103G>C (p.Arg368Pro)
n.806G>C
c.971G>C (p.Arg324Pro)
n.797G>C
n.283-5415G>C
c.295G>C
c.956G>C (p.Arg319Pro)
15g.67187458G=CA2184420930SMAD3c.518G= (p.Arg173=)
c.788G= (p.Arg263=)
c.1214G= (p.Arg405=)
c.1103G= (p.Arg368=)
n.806G=
c.971G= (p.Arg324=)
n.797G=
n.283-5415G=
c.295G=
c.956G= (p.Arg319=)
15g.67187458G>TCA392958256SMAD3c.518G>T (p.Arg173Leu)
c.788G>T (p.Arg263Leu)
c.1214G>T (p.Arg405Leu)
c.1103G>T (p.Arg368Leu)
n.806G>T
c.971G>T (p.Arg324Leu)
n.797G>T
n.283-5415G>T
c.295G>T
c.956G>T (p.Arg319Leu)
15g.67187459A>CCA490917757SMAD3c.519A>C (p.Arg173=)
c.789A>C (p.Arg263=)
c.1215A>C (p.Arg405=)
c.1104A>C (p.Arg368=)
n.807A>C
c.972A>C (p.Arg324=)
n.798A>C
n.283-5414A>C
c.296A>C
c.957A>C (p.Arg319=)
15g.67187459A>GCA490917761SMAD3c.519A>G (p.Arg173=)
c.789A>G (p.Arg263=)
c.1215A>G (p.Arg405=)
c.1104A>G (p.Arg368=)
n.807A>G
c.972A>G (p.Arg324=)
n.798A>G
n.283-5414A>G
c.296A>G
c.957A>G (p.Arg319=)
15g.67187459A>TCA490917763SMAD3c.519A>T (p.Arg173=)
c.789A>T (p.Arg263=)
c.1215A>T (p.Arg405=)
c.1104A>T (p.Arg368=)
n.807A>T
c.972A>T (p.Arg324=)
n.798A>T
n.283-5414A>T
c.296A>T
c.957A>T (p.Arg319=)
15g.67187460A=CA2184420931SMAD3c.520A= (p.Met174=)
c.790A= (p.Met264=)
c.1216A= (p.Met406=)
c.1105A= (p.Met369=)
n.808A=
c.973A= (p.Met325=)
n.799A=
n.283-5413A=
c.297A=
c.958A= (p.Met320=)
15g.67187460A>CCA392958257SMAD3c.520A>C (p.Met174Leu)
c.790A>C (p.Met264Leu)
c.1216A>C (p.Met406Leu)
c.1105A>C (p.Met369Leu)
n.808A>C
c.973A>C (p.Met325Leu)
n.799A>C
n.283-5413A>C
c.297A>C
c.958A>C (p.Met320Leu)
 dbSNP gnomAD v2 gnomAD v4
15g.67187460A>GCA392958258SMAD3c.520A>G (p.Met174Val)
c.790A>G (p.Met264Val)
c.1216A>G (p.Met406Val)
c.1105A>G (p.Met369Val)
n.808A>G
c.973A>G (p.Met325Val)
n.799A>G
n.283-5413A>G
c.297A>G
c.958A>G (p.Met320Val)
15g.67187460A>TCA392958259SMAD3c.520A>T (p.Met174Leu)
c.790A>T (p.Met264Leu)
c.1216A>T (p.Met406Leu)
c.1105A>T (p.Met369Leu)
n.808A>T
c.973A>T (p.Met325Leu)
n.799A>T
n.283-5413A>T
c.297A>T
c.958A>T (p.Met320Leu)
15g.67187461T>ACA392958260SMAD3c.521T>A (p.Met174Lys)
c.791T>A (p.Met264Lys)
c.1217T>A (p.Met406Lys)
c.1106T>A (p.Met369Lys)
n.809T>A
c.974T>A (p.Met325Lys)
n.800T>A
n.283-5412T>A
c.298T>A
c.959T>A (p.Met320Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.67187461T>CCA392958261SMAD3c.521T>C (p.Met174Thr)
c.791T>C (p.Met264Thr)
c.1217T>C (p.Met406Thr)
c.1106T>C (p.Met369Thr)
n.809T>C
c.974T>C (p.Met325Thr)
n.800T>C
n.283-5412T>C
c.298T>C
c.959T>C (p.Met320Thr)
15g.67187461T>GCA392958262SMAD3c.521T>G (p.Met174Arg)
c.791T>G (p.Met264Arg)
c.1217T>G (p.Met406Arg)
c.1106T>G (p.Met369Arg)
n.809T>G
c.974T>G (p.Met325Arg)
n.800T>G
n.283-5412T>G
c.298T>G
c.959T>G (p.Met320Arg)
15g.67187461T=CA2184420932SMAD3c.521T= (p.Met174=)
c.791T= (p.Met264=)
c.1217T= (p.Met406=)
c.1106T= (p.Met369=)
n.809T=
c.974T= (p.Met325=)
n.800T=
n.283-5412T=
c.298T=
c.959T= (p.Met320=)
15g.67187462G>ACA392958264SMAD3c.522G>A (p.Met174Ile)
c.792G>A (p.Met264Ile)
c.1218G>A (p.Met406Ile)
c.1107G>A (p.Met369Ile)
n.810G>A
c.975G>A (p.Met325Ile)
n.801G>A
n.283-5411G>A
c.299G>A
c.960G>A (p.Met320Ile)
15g.67187462G>CCA392958265SMAD3c.522G>C (p.Met174Ile)
c.792G>C (p.Met264Ile)
c.1218G>C (p.Met406Ile)
c.1107G>C (p.Met369Ile)
n.810G>C
c.975G>C (p.Met325Ile)
n.801G>C
n.283-5411G>C
c.299G>C
c.960G>C (p.Met320Ile)
15g.67187462G>TCA392958263SMAD3c.522G>T (p.Met174Ile)
c.792G>T (p.Met264Ile)
c.1218G>T (p.Met406Ile)
c.1107G>T (p.Met369Ile)
n.810G>T
c.975G>T (p.Met325Ile)
n.801G>T
n.283-5411G>T
c.299G>T
c.960G>T (p.Met320Ile)
15g.67187463T>ACA392958267SMAD3c.523T>A (p.Cys175Ser)
c.793T>A (p.Cys265Ser)
c.1219T>A (p.Cys407Ser)
c.1108T>A (p.Cys370Ser)
n.811T>A
c.976T>A (p.Cys326Ser)
n.802T>A
n.283-5410T>A
c.300T>A
c.961T>A (p.Cys321Ser)
15g.67187463T>CCA392958266SMAD3c.523T>C (p.Cys175Arg)
c.793T>C (p.Cys265Arg)
c.1219T>C (p.Cys407Arg)
c.1108T>C (p.Cys370Arg)
n.811T>C
c.976T>C (p.Cys326Arg)
n.802T>C
n.283-5410T>C
c.300T>C
c.961T>C (p.Cys321Arg)
15g.67187463T>GCA392958268SMAD3c.523T>G (p.Cys175Gly)
c.793T>G (p.Cys265Gly)
c.1219T>G (p.Cys407Gly)
c.1108T>G (p.Cys370Gly)
n.811T>G
c.976T>G (p.Cys326Gly)
n.802T>G
n.283-5410T>G
c.300T>G
c.961T>G (p.Cys321Gly)
15g.67187464G>ACA392958269SMAD3c.524G>A (p.Cys175Tyr)
c.794G>A (p.Cys265Tyr)
c.1220G>A (p.Cys407Tyr)
c.1109G>A (p.Cys370Tyr)
n.812G>A
c.977G>A (p.Cys326Tyr)
n.803G>A
n.283-5409G>A
c.301G>A
c.962G>A (p.Cys321Tyr)
 dbSNP
15g.67187464G>CCA392958270SMAD3c.524G>C (p.Cys175Ser)
c.794G>C (p.Cys265Ser)
c.1220G>C (p.Cys407Ser)
c.1109G>C (p.Cys370Ser)
n.812G>C
c.977G>C (p.Cys326Ser)
n.803G>C
n.283-5409G>C
c.301G>C
c.962G>C (p.Cys321Ser)
15g.67187464G>TCA392958271SMAD3c.524G>T (p.Cys175Phe)
c.794G>T (p.Cys265Phe)
c.1220G>T (p.Cys407Phe)
c.1109G>T (p.Cys370Phe)
n.812G>T
c.977G>T (p.Cys326Phe)
n.803G>T
n.283-5409G>T
c.301G>T
c.962G>T (p.Cys321Phe)
15g.67187465C>ACA392958272SMAD3c.525C>A (p.Cys175Ter)
c.795C>A (p.Cys265Ter)
c.1221C>A (p.Cys407Ter)
c.1110C>A (p.Cys370Ter)
n.813C>A
c.978C>A (p.Cys326Ter)
n.804C>A
n.283-5408C>A
c.302C>A
c.963C>A (p.Cys321Ter)
15g.67187465C=CA2184420933SMAD3c.525C= (p.Cys175=)
c.795C= (p.Cys265=)
c.1221C= (p.Cys407=)
c.1110C= (p.Cys370=)
n.813C=
c.978C= (p.Cys326=)
n.804C=
n.283-5408C=
c.302C=
c.963C= (p.Cys321=)
15g.67187465C>GCA392958273SMAD3c.525C>G (p.Cys175Trp)
c.795C>G (p.Cys265Trp)
c.1221C>G (p.Cys407Trp)
c.1110C>G (p.Cys370Trp)
n.813C>G
c.978C>G (p.Cys326Trp)
n.804C>G
n.283-5408C>G
c.302C>G
c.963C>G (p.Cys321Trp)
15g.67187465C>TCA490918180SMAD3c.525C>T (p.Cys175=)
c.795C>T (p.Cys265=)
c.1221C>T (p.Cys407=)
c.1110C>T (p.Cys370=)
n.813C>T
c.978C>T (p.Cys326=)
n.804C>T
n.283-5408C>T
c.302C>T
c.963C>T (p.Cys321=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.67187466A>CCA392958274SMAD3c.526A>C (p.Thr176Pro)
c.796A>C (p.Thr266Pro)
c.1222A>C (p.Thr408Pro)
c.1111A>C (p.Thr371Pro)
n.814A>C
c.979A>C (p.Thr327Pro)
n.805A>C
n.283-5407A>C
c.303A>C
c.964A>C (p.Thr322Pro)
15g.67187466A>GCA392958275SMAD3c.526A>G (p.Thr176Ala)
c.796A>G (p.Thr266Ala)
c.1222A>G (p.Thr408Ala)
c.1111A>G (p.Thr371Ala)
n.814A>G
c.979A>G (p.Thr327Ala)
n.805A>G
n.283-5407A>G
c.303A>G
c.964A>G (p.Thr322Ala)
15g.67187466A>TCA392958276SMAD3c.526A>T (p.Thr176Ser)
c.796A>T (p.Thr266Ser)
c.1222A>T (p.Thr408Ser)
c.1111A>T (p.Thr371Ser)
n.814A>T
c.979A>T (p.Thr327Ser)
n.805A>T
n.283-5407A>T
c.303A>T
c.964A>T (p.Thr322Ser)
15g.67187467C>ACA392958277SMAD3c.527C>A (p.Thr176Asn)
c.797C>A (p.Thr266Asn)
c.1223C>A (p.Thr408Asn)
c.1112C>A (p.Thr371Asn)
n.815C>A
c.980C>A (p.Thr327Asn)
n.806C>A
n.283-5406C>A
c.304C>A
c.965C>A (p.Thr322Asn)
 ClinVar dbSNP
15g.67187467C=CA2184420934SMAD3c.527C= (p.Thr176=)
c.797C= (p.Thr266=)
c.1223C= (p.Thr408=)
c.1112C= (p.Thr371=)
n.815C=
c.980C= (p.Thr327=)
n.806C=
n.283-5406C=
c.304C=
c.965C= (p.Thr322=)
15g.67187467C>GCA392958278SMAD3c.527C>G (p.Thr176Ser)
c.797C>G (p.Thr266Ser)
c.1223C>G (p.Thr408Ser)
c.1112C>G (p.Thr371Ser)
n.815C>G
c.980C>G (p.Thr327Ser)
n.806C>G
n.283-5406C>G
c.304C>G
c.965C>G (p.Thr322Ser)
15g.67187467C>TCA392958279SMAD3c.527C>T (p.Thr176Ile)
c.797C>T (p.Thr266Ile)
c.1223C>T (p.Thr408Ile)
c.1112C>T (p.Thr371Ile)
n.815C>T
c.980C>T (p.Thr327Ile)
n.806C>T
n.283-5406C>T
c.304C>T
c.965C>T (p.Thr322Ile)
 dbSNP gnomAD v4
15g.67187468C>ACA490918188SMAD3c.528C>A (p.Thr176=)
c.798C>A (p.Thr266=)
c.1224C>A (p.Thr408=)
c.1113C>A (p.Thr371=)
n.816C>A
c.981C>A (p.Thr327=)
n.807C>A
n.283-5405C>A
c.305C>A
c.966C>A (p.Thr322=)
15g.67187468C>GCA490918190SMAD3c.528C>G (p.Thr176=)
c.798C>G (p.Thr266=)
c.1224C>G (p.Thr408=)
c.1113C>G (p.Thr371=)
n.816C>G
c.981C>G (p.Thr327=)
n.807C>G
n.283-5405C>G
c.305C>G
c.966C>G (p.Thr322=)
15g.67187468C>TCA490918192SMAD3c.528C>T (p.Thr176=)
c.798C>T (p.Thr266=)
c.1224C>T (p.Thr408=)
c.1113C>T (p.Thr371=)
n.816C>T
c.981C>T (p.Thr327=)
n.807C>T
n.283-5405C>T
c.305C>T
c.966C>T (p.Thr322=)
15g.67187469A>CCA392958282SMAD3c.529A>C (p.Ile177Leu)
c.799A>C (p.Ile267Leu)
c.1225A>C (p.Ile409Leu)
c.1114A>C (p.Ile372Leu)
n.817A>C
c.982A>C (p.Ile328Leu)
n.808A>C
n.283-5404A>C
c.306A>C
c.967A>C (p.Ile323Leu)
 dbSNP
15g.67187469A>GCA392958281SMAD3c.529A>G (p.Ile177Val)
c.799A>G (p.Ile267Val)
c.1225A>G (p.Ile409Val)
c.1114A>G (p.Ile372Val)
n.817A>G
c.982A>G (p.Ile328Val)
n.808A>G
n.283-5404A>G
c.306A>G
c.967A>G (p.Ile323Val)
15g.67187469A>TCA392958280SMAD3c.529A>T (p.Ile177Phe)
c.799A>T (p.Ile267Phe)
c.1225A>T (p.Ile409Phe)
c.1114A>T (p.Ile372Phe)
n.817A>T
c.982A>T (p.Ile328Phe)
n.808A>T
n.283-5404A>T
c.306A>T
c.967A>T (p.Ile323Phe)
15g.67187470T>ACA392958283SMAD3c.530T>A (p.Ile177Asn)
c.800T>A (p.Ile267Asn)
c.1226T>A (p.Ile409Asn)
c.1115T>A (p.Ile372Asn)
n.818T>A
c.983T>A (p.Ile328Asn)
n.809T>A
n.283-5403T>A
c.307T>A
c.968T>A (p.Ile323Asn)
15g.67187470T>CCA392958284SMAD3c.530T>C (p.Ile177Thr)
c.800T>C (p.Ile267Thr)
c.1226T>C (p.Ile409Thr)
c.1115T>C (p.Ile372Thr)
n.818T>C
c.983T>C (p.Ile328Thr)
n.809T>C
n.283-5403T>C
c.307T>C
c.968T>C (p.Ile323Thr)
15g.67187470T>GCA392958285SMAD3c.530T>G (p.Ile177Ser)
c.800T>G (p.Ile267Ser)
c.1226T>G (p.Ile409Ser)
c.1115T>G (p.Ile372Ser)
n.818T>G
c.983T>G (p.Ile328Ser)
n.809T>G
n.283-5403T>G
c.307T>G
c.968T>G (p.Ile323Ser)
15g.67187471C>ACA490918222SMAD3c.531C>A (p.Ile177=)
c.801C>A (p.Ile267=)
c.1227C>A (p.Ile409=)
c.1116C>A (p.Ile372=)
n.819C>A
c.984C>A (p.Ile328=)
n.810C>A
n.283-5402C>A
c.308C>A
c.969C>A (p.Ile323=)
15g.67187471C>GCA392958286SMAD3c.531C>G (p.Ile177Met)
c.801C>G (p.Ile267Met)
c.1227C>G (p.Ile409Met)
c.1116C>G (p.Ile372Met)
n.819C>G
c.984C>G (p.Ile328Met)
n.810C>G
n.283-5402C>G
c.308C>G
c.969C>G (p.Ile323Met)
 gnomAD v4
15g.67187471C>TCA490918225SMAD3c.531C>T (p.Ile177=)
c.801C>T (p.Ile267=)
c.1227C>T (p.Ile409=)
c.1116C>T (p.Ile372=)
n.819C>T
c.984C>T (p.Ile328=)
n.810C>T
n.283-5402C>T
c.308C>T
c.969C>T (p.Ile323=)
15g.67187472C>ACA392958287SMAD3c.532C>A (p.Arg178Ser)
c.802C>A (p.Arg268Ser)
c.1228C>A (p.Arg410Ser)
c.1117C>A (p.Arg373Ser)
n.820C>A
c.985C>A (p.Arg329Ser)
n.811C>A
n.283-5401C>A
c.309C>A
c.970C>A (p.Arg324Ser)
 ClinVar dbSNP
15g.67187472C=CA2184420935SMAD3c.532C= (p.Arg178=)
c.802C= (p.Arg268=)
c.1228C= (p.Arg410=)
c.1117C= (p.Arg373=)
n.820C=
c.985C= (p.Arg329=)
n.811C=
n.283-5401C=
c.309C=
c.970C= (p.Arg324=)
15g.67187472C>GCA392958288SMAD3c.532C>G (p.Arg178Gly)
c.802C>G (p.Arg268Gly)
c.1228C>G (p.Arg410Gly)
c.1117C>G (p.Arg373Gly)
n.820C>G
c.985C>G (p.Arg329Gly)
n.811C>G
n.283-5401C>G
c.309C>G
c.970C>G (p.Arg324Gly)
15g.67187472C>TCA324404SMAD3c.532C>T (p.Arg178Cys)
c.802C>T (p.Arg268Cys)
c.1228C>T (p.Arg410Cys)
c.1117C>T (p.Arg373Cys)
n.820C>T
c.985C>T (p.Arg329Cys)
n.811C>T
n.283-5401C>T
c.309C>T
c.970C>T (p.Arg324Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC

Number of alleles fetched