Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
15	g.67164885_67164968delinsA	CA2580089878	SMAD3	c.-109-10_-36delinsA c.207-10_280delinsA c.75-10_148delinsA c.152-10_225delinsA n.57-10_130delinsA c.60-10_133delinsA	ClinVar
15	g.67164897C>A	CA392953423	SMAD3	c.-107C>A (n.-107C>A) c.209C>A (p.Ser70Tyr) c.77C>A (p.Ser26Tyr) c.154C>A (p.Pro52Thr) n.59C>A c.62C>A (p.Ser21Tyr)	ClinVar dbSNP
15	g.67164897C>G	CA392953425	SMAD3	c.-107C>G (n.-107C>G) c.209C>G (p.Ser70Cys) c.77C>G (p.Ser26Cys) c.154C>G (p.Pro52Ala) n.59C>G c.62C>G (p.Ser21Cys)
15	g.67164897C>T	CA392953427	SMAD3	c.-107C>T (n.-107C>T) c.209C>T (p.Ser70Phe) c.77C>T (p.Ser26Phe) c.154C>T (p.Pro52Ser) n.59C>T c.62C>T (p.Ser21Phe)
15	g.67164898C>A	CA392953429	SMAD3	c.-106C>A (n.-106C>A) c.210C>A (p.Ser70=) c.78C>A (p.Ser26=) c.155C>A (p.Pro52His) n.60C>A c.63C>A (p.Ser21=)
15	g.67164898C=	CA2184410302	SMAD3	c.-106C= (n.-106C=) c.210C= (p.Ser70=) c.78C= (p.Ser26=) c.155C= (p.Pro52=) n.60C= c.63C= (p.Ser21=)
15	g.67164898C>G	CA392953430	SMAD3	c.-106C>G (n.-106C>G) c.210C>G (p.Ser70=) c.78C>G (p.Ser26=) c.155C>G (p.Pro52Arg) n.60C>G c.63C>G (p.Ser21=)	gnomAD v4
15	g.67164898C>T	CA392953432	SMAD3	c.-106C>T (n.-106C>T) c.210C>T (p.Ser70=) c.78C>T (p.Ser26=) c.155C>T (p.Pro52Leu) n.60C>T c.63C>T (p.Ser21=)	ClinVar dbSNP gnomAD v3 gnomAD v4
15	g.67164899C>A	CA392953434	SMAD3	c.-105C>A (n.-105C>A) c.211C>A (p.Leu71Met) c.79C>A (p.Leu27Met) c.156C>A (p.Pro52=) n.61C>A c.64C>A (p.Leu22Met)
15	g.67164899C>G	CA392953436	SMAD3	c.-105C>G (n.-105C>G) c.211C>G (p.Leu71Val) c.79C>G (p.Leu27Val) c.156C>G (p.Pro52=) n.61C>G c.64C>G (p.Leu22Val)
15	g.67164899C>T	CA490911536	SMAD3	c.-105C>T (n.-105C>T) c.211C>T (p.Leu71=) c.79C>T (p.Leu27=) c.156C>T (p.Pro52=) n.61C>T c.64C>T (p.Leu22=)
15	g.67164900T>A	CA392953438	SMAD3	c.-104T>A (n.-104T>A) c.212T>A (p.Leu71Gln) c.80T>A (p.Leu27Gln) c.157T>A (p.Trp53Arg) n.62T>A c.65T>A (p.Leu22Gln)
15	g.67164900T>C	CA392953441	SMAD3	c.-104T>C (n.-104T>C) c.212T>C (p.Leu71Pro) c.80T>C (p.Leu27Pro) c.157T>C (p.Trp53Arg) n.62T>C c.65T>C (p.Leu22Pro)	ClinVar dbSNP
15	g.67164900T>G	CA392953439	SMAD3	c.-104T>G (n.-104T>G) c.212T>G (p.Leu71Arg) c.80T>G (p.Leu27Arg) c.157T>G (p.Trp53Gly) n.62T>G c.65T>G (p.Leu22Arg)	dbSNP gnomAD v2 gnomAD v4
15	g.67164900T=	CA2184410303	SMAD3	c.-104T= (n.-104T=) c.212T= (p.Leu71=) c.80T= (p.Leu27=) c.157T= (p.Trp53=) n.62T= c.65T= (p.Leu22=)
15	g.67164901G>A	CA392953443	SMAD3	c.-103G>A (n.-103G>A) c.213G>A (p.Leu71=) c.81G>A (p.Leu27=) c.158G>A (p.Trp53Ter) n.63G>A c.66G>A (p.Leu22=)	dbSNP gnomAD v2 gnomAD v4
15	g.67164901G>C	CA392953446	SMAD3	c.-103G>C (n.-103G>C) c.213G>C (p.Leu71=) c.81G>C (p.Leu27=) c.158G>C (p.Trp53Ser) n.63G>C c.66G>C (p.Leu22=)
15	g.67164901G=	CA2184410304	SMAD3	c.-103G= (n.-103G=) c.213G= (p.Leu71=) c.81G= (p.Leu27=) c.158G= (p.Trp53=) n.63G= c.66G= (p.Leu22=)
15	g.67164901G>T	CA392953445	SMAD3	c.-103G>T (n.-103G>T) c.213G>T (p.Leu71=) c.81G>T (p.Leu27=) c.158G>T (p.Trp53Leu) n.63G>T c.66G>T (p.Leu22=)	gnomAD v4
15	g.67164902G>A	CA392953448	SMAD3	c.-102G>A (n.-102G>A) c.214G>A (p.Asp72Asn) c.82G>A (p.Asp28Asn) c.159G>A (p.Trp53Ter) n.64G>A c.67G>A (p.Asp23Asn)
15	g.67164902G>C	CA392953452	SMAD3	c.-102G>C (n.-102G>C) c.214G>C (p.Asp72His) c.82G>C (p.Asp28His) c.159G>C (p.Trp53Cys) n.64G>C c.67G>C (p.Asp23His)	ClinVar
15	g.67164902G>T	CA392953450	SMAD3	c.-102G>T (n.-102G>T) c.214G>T (p.Asp72Tyr) c.82G>T (p.Asp28Tyr) c.159G>T (p.Trp53Cys) n.64G>T c.67G>T (p.Asp23Tyr)
15	g.67164903A>C	CA392953453	SMAD3	c.-101A>C (n.-101A>C) c.215A>C (p.Asp72Ala) c.83A>C (p.Asp28Ala) c.160A>C (p.Met54Leu) n.65A>C c.68A>C (p.Asp23Ala)
15	g.67164903A>G	CA392953455	SMAD3	c.-101A>G (n.-101A>G) c.215A>G (p.Asp72Gly) c.83A>G (p.Asp28Gly) c.160A>G (p.Met54Val) n.65A>G c.68A>G (p.Asp23Gly)	ClinVar
15	g.67164903A>T	CA392953457	SMAD3	c.-101A>T (n.-101A>T) c.215A>T (p.Asp72Val) c.83A>T (p.Asp28Val) c.160A>T (p.Met54Leu) n.65A>T c.68A>T (p.Asp23Val)	dbSNP
15	g.67164904T>A	CA392953458	SMAD3	c.-100T>A (n.-100T>A) c.216T>A (p.Asp72Glu) c.84T>A (p.Asp28Glu) c.161T>A (p.Met54Lys) n.66T>A c.69T>A (p.Asp23Glu)
15	g.67164904T>C	CA392953459	SMAD3	c.-100T>C (n.-100T>C) c.216T>C (p.Asp72=) c.84T>C (p.Asp28=) c.161T>C (p.Met54Thr) n.66T>C c.69T>C (p.Asp23=)
15	g.67164904T>G	CA392953461	SMAD3	c.-100T>G (n.-100T>G) c.216T>G (p.Asp72Glu) c.84T>G (p.Asp28Glu) c.161T>G (p.Met54Arg) n.66T>G c.69T>G (p.Asp23Glu)	dbSNP
15	g.67164905G>A	CA392953463	SMAD3	c.-99G>A (n.-99G>A) c.217G>A (p.Gly73Ser) c.85G>A (p.Gly29Ser) c.162G>A (p.Met54Ile) n.67G>A c.70G>A (p.Gly24Ser)	ClinVar dbSNP
15	g.67164905G>C	CA392953464	SMAD3	c.-99G>C (n.-99G>C) c.217G>C (p.Gly73Arg) c.85G>C (p.Gly29Arg) c.162G>C (p.Met54Ile) n.67G>C c.70G>C (p.Gly24Arg)
15	g.67164905G=	CA2184410305	SMAD3	c.-99G= (n.-99G=) c.217G= (p.Gly73=) c.85G= (p.Gly29=) c.162G= (p.Met54=) n.67G= c.70G= (p.Gly24=)
15	g.67164905G>T	CA392953465	SMAD3	c.-99G>T (n.-99G>T) c.217G>T (p.Gly73Cys) c.85G>T (p.Gly29Cys) c.162G>T (p.Met54Ile) n.67G>T c.70G>T (p.Gly24Cys)
15	g.67164906G>A	CA392953471	SMAD3	c.-98G>A (n.-98G>A) c.218G>A (p.Gly73Asp) c.86G>A (p.Gly29Asp) c.163G>A (p.Ala55Thr) n.68G>A c.71G>A (p.Gly24Asp)	dbSNP
15	g.67164906G>C	CA392953470	SMAD3	c.-98G>C (n.-98G>C) c.218G>C (p.Gly73Ala) c.86G>C (p.Gly29Ala) c.163G>C (p.Ala55Pro) n.68G>C c.71G>C (p.Gly24Ala)
15	g.67164906G>T	CA392953468	SMAD3	c.-98G>T (n.-98G>T) c.218G>T (p.Gly73Val) c.86G>T (p.Gly29Val) c.163G>T (p.Ala55Ser) n.68G>T c.71G>T (p.Gly24Val)
15	g.67164907C>A	CA392953473	SMAD3	c.-97C>A (n.-97C>A) c.219C>A (p.Gly73=) c.87C>A (p.Gly29=) c.164C>A (p.Ala55Asp) n.69C>A c.72C>A (p.Gly24=)	ClinVar dbSNP gnomAD v3 gnomAD v4
15	g.67164907C=	CA2184410306	SMAD3	c.-97C= (n.-97C=) c.219C= (p.Gly73=) c.87C= (p.Gly29=) c.164C= (p.Ala55=) n.69C= c.72C= (p.Gly24=)
15	g.67164907C>G	CA392953475	SMAD3	c.-97C>G (n.-97C>G) c.219C>G (p.Gly73=) c.87C>G (p.Gly29=) c.164C>G (p.Ala55Gly) n.69C>G c.72C>G (p.Gly24=)	dbSNP
15	g.67164907C>T	CA272378583	SMAD3	c.-97C>T (n.-97C>T) c.219C>T (p.Gly73=) c.87C>T (p.Gly29=) c.164C>T (p.Ala55Val) n.69C>T c.72C>T (p.Gly24=)	dbSNP COSMIC COSMIC
15	g.67164908C>A	CA490911543	SMAD3	c.-96C>A (n.-96C>A) c.220C>A (p.Arg74=) c.88C>A (p.Arg30=) c.165C>A (p.Ala55=) n.70C>A c.73C>A (p.Arg25=)	dbSNP gnomAD v4
15	g.67164908C=	CA2184410307	SMAD3	c.-96C= (n.-96C=) c.220C= (p.Arg74=) c.88C= (p.Arg30=) c.165C= (p.Ala55=) n.70C= c.73C= (p.Arg25=)
15	g.67164908C>G	CA392953477	SMAD3	c.-96C>G (n.-96C>G) c.220C>G (p.Arg74Gly) c.88C>G (p.Arg30Gly) c.165C>G (p.Ala55=) n.70C>G c.73C>G (p.Arg25Gly)	dbSNP COSMIC COSMIC
15	g.67164908C>T	CA392953479	SMAD3	c.-96C>T (n.-96C>T) c.220C>T (p.Arg74Trp) c.88C>T (p.Arg30Trp) c.165C>T (p.Ala55=) n.70C>T c.73C>T (p.Arg25Trp)	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
15	g.67164909G>A	CA392953481	SMAD3	c.-95G>A (n.-95G>A) c.221G>A (p.Arg74Gln) c.89G>A (p.Arg30Gln) c.166G>A (p.Gly56Ser) n.71G>A c.74G>A (p.Arg25Gln)	ClinVar dbSNP gnomAD v4
15	g.67164909G>C	CA392953482	SMAD3	c.-95G>C (n.-95G>C) c.221G>C (p.Arg74Pro) c.89G>C (p.Arg30Pro) c.166G>C (p.Gly56Arg) n.71G>C c.74G>C (p.Arg25Pro)
15	g.67164909G=	CA2184410308	SMAD3	c.-95G= (n.-95G=) c.221G= (p.Arg74=) c.89G= (p.Arg30=) c.166G= (p.Gly56=) n.71G= c.74G= (p.Arg25=)
15	g.67164909G>T	CA392953483	SMAD3	c.-95G>T (n.-95G>T) c.221G>T (p.Arg74Leu) c.89G>T (p.Arg30Leu) c.166G>T (p.Gly56Cys) n.71G>T c.74G>T (p.Arg25Leu)
15	g.67164910G>A	CA392953484	SMAD3	c.-94G>A (n.-94G>A) c.222G>A (p.Arg74=) c.90G>A (p.Arg30=) c.167G>A (p.Gly56Asp) n.72G>A c.75G>A (p.Arg25=)	gnomAD v4
15	g.67164910G>C	CA392953486	SMAD3	c.-94G>C (n.-94G>C) c.222G>C (p.Arg74=) c.90G>C (p.Arg30=) c.167G>C (p.Gly56Ala) n.72G>C c.75G>C (p.Arg25=)	ClinVar dbSNP gnomAD v3 gnomAD v4
15	g.67164910G=	CA2184410309	SMAD3	c.-94G= (n.-94G=) c.222G= (p.Arg74=) c.90G= (p.Arg30=) c.167G= (p.Gly56=) n.72G= c.75G= (p.Arg25=)
15	g.67164910G>T	CA392953487	SMAD3	c.-94G>T (n.-94G>T) c.222G>T (p.Arg74=) c.90G>T (p.Arg30=) c.167G>T (p.Gly56Val) n.72G>T c.75G>T (p.Arg25=)
15	g.67164911T>A	CA392953491	SMAD3	c.-93T>A (n.-93T>A) c.223T>A (p.Leu75Met) c.91T>A (p.Leu31Met) c.168T>A (p.Gly56=) n.73T>A c.76T>A (p.Leu26Met)
15	g.67164911T>C	CA490911548	SMAD3	c.-93T>C (n.-93T>C) c.223T>C (p.Leu75=) c.91T>C (p.Leu31=) c.168T>C (p.Gly56=) n.73T>C c.76T>C (p.Leu26=)	dbSNP gnomAD v4
15	g.67164911T>G	CA392953489	SMAD3	c.-93T>G (n.-93T>G) c.223T>G (p.Leu75Val) c.91T>G (p.Leu31Val) c.168T>G (p.Gly56=) n.73T>G c.76T>G (p.Leu26Val)	dbSNP
15	g.67164911T=	CA2184410310	SMAD3	c.-93T= (n.-93T=) c.223T= (p.Leu75=) c.91T= (p.Leu31=) c.168T= (p.Gly56=) n.73T= c.76T= (p.Leu26=)
15	g.67164912T>A	CA392953492	SMAD3	c.-92T>A (n.-92T>A) c.224T>A (p.Leu75Ter) c.92T>A (p.Leu31Ter) c.169T>A (p.Cys57Ser) n.74T>A c.77T>A (p.Leu26Ter)
15	g.67164912T>C	CA392953493	SMAD3	c.-92T>C (n.-92T>C) c.224T>C (p.Leu75Ser) c.92T>C (p.Leu31Ser) c.169T>C (p.Cys57Arg) n.74T>C c.77T>C (p.Leu26Ser)
15	g.67164912T>G	CA392953495	SMAD3	c.-92T>G (n.-92T>G) c.224T>G (p.Leu75Trp) c.92T>G (p.Leu31Trp) c.169T>G (p.Cys57Gly) n.74T>G c.77T>G (p.Leu26Trp)
15	g.67164913G>A	CA392953496	SMAD3	c.-91G>A (n.-91G>A) c.225G>A (p.Leu75=) c.93G>A (p.Leu31=) c.170G>A (p.Cys57Tyr) n.75G>A c.78G>A (p.Leu26=)	dbSNP
15	g.67164913G>C	CA392953498	SMAD3	c.-91G>C (n.-91G>C) c.225G>C (p.Leu75Phe) c.93G>C (p.Leu31Phe) c.170G>C (p.Cys57Ser) n.75G>C c.78G>C (p.Leu26Phe)
15	g.67164913G>T	CA392953499	SMAD3	c.-91G>T (n.-91G>T) c.225G>T (p.Leu75Phe) c.93G>T (p.Leu31Phe) c.170G>T (p.Cys57Phe) n.75G>T c.78G>T (p.Leu26Phe)
15	g.67164914C>A	CA392953501	SMAD3	c.-90C>A (n.-90C>A) c.226C>A (p.Gln76Lys) c.94C>A (p.Gln32Lys) c.171C>A (p.Cys57Ter) n.76C>A c.79C>A (p.Gln27Lys)
15	g.67164914C=	CA2184410311	SMAD3	c.-90C= (n.-90C=) c.226C= (p.Gln76=) c.94C= (p.Gln32=) c.171C= (p.Cys57=) n.76C= c.79C= (p.Gln27=)
15	g.67164914C>G	CA392953503	SMAD3	c.-90C>G (n.-90C>G) c.226C>G (p.Gln76Glu) c.94C>G (p.Gln32Glu) c.171C>G (p.Cys57Trp) n.76C>G c.79C>G (p.Gln27Glu)
15	g.67164914C>T	CA321826	SMAD3	c.-90C>T (n.-90C>T) c.226C>T (p.Gln76Ter) c.94C>T (p.Gln32Ter) c.171C>T (p.Cys57=) n.76C>T c.79C>T (p.Gln27Ter)	dbSNP
15	g.67164915A>C	CA392953506	SMAD3	c.-89A>C (n.-89A>C) c.227A>C (p.Gln76Pro) c.95A>C (p.Gln32Pro) c.172A>C (p.Arg58=) n.77A>C c.80A>C (p.Gln27Pro)
15	g.67164915A>G	CA392953508	SMAD3	c.-89A>G (n.-89A>G) c.227A>G (p.Gln76Arg) c.95A>G (p.Gln32Arg) c.172A>G (p.Arg58Gly) n.77A>G c.80A>G (p.Gln27Arg)
15	g.67164915A>T	CA392953509	SMAD3	c.-89A>T (n.-89A>T) c.227A>T (p.Gln76Leu) c.95A>T (p.Gln32Leu) c.172A>T (p.Arg58Trp) n.77A>T c.80A>T (p.Gln27Leu)
15	g.67164916G>A	CA392953514	SMAD3	c.-88G>A (n.-88G>A) c.228G>A (p.Gln76=) c.96G>A (p.Gln32=) c.173G>A (p.Arg58Lys) n.78G>A c.81G>A (p.Gln27=)	ClinVar dbSNP gnomAD v2 gnomAD v4
15	g.67164916G>C	CA392953511	SMAD3	c.-88G>C (n.-88G>C) c.228G>C (p.Gln76His) c.96G>C (p.Gln32His) c.173G>C (p.Arg58Thr) n.78G>C c.81G>C (p.Gln27His)
15	g.67164916G=	CA2184410312	SMAD3	c.-88G= (n.-88G=) c.228G= (p.Gln76=) c.96G= (p.Gln32=) c.173G= (p.Arg58=) n.78G= c.81G= (p.Gln27=)
15	g.67164916G>T	CA10602646	SMAD3	c.-88G>T (n.-88G>T) c.228G>T (p.Gln76His) c.96G>T (p.Gln32His) c.173G>T (p.Arg58Met) n.78G>T c.81G>T (p.Gln27His)	ClinVar dbSNP
15	g.67164917del	CA2697549139	SMAD3	c.-87del (n.-87del) c.229del (p.Val77CysfsTer?) c.97del (p.Val33CysfsTer?) c.174del (p.Arg58SerfsTer?) n.79del c.82del (p.Val28CysfsTer?)	ClinVar
15	g.67164917G>A	CA062053	SMAD3	c.-87G>A (n.-87G>A) c.229G>A (p.Val77Met) c.97G>A (p.Val33Met) c.174G>A (p.Arg58=) n.79G>A c.82G>A (p.Val28Met)	ClinVar dbSNP ExAC
15	g.67164917G>C	CA392953516	SMAD3	c.-87G>C (n.-87G>C) c.229G>C (p.Val77Leu) c.97G>C (p.Val33Leu) c.174G>C (p.Arg58Ser) n.79G>C c.82G>C (p.Val28Leu)
15	g.67164917G=	CA2184410313	SMAD3	c.-87G= (n.-87G=) c.229G= (p.Val77=) c.97G= (p.Val33=) c.174G= (p.Arg58=) n.79G= c.82G= (p.Val28=)
15	g.67164917G>T	CA392953518	SMAD3	c.-87G>T (n.-87G>T) c.229G>T (p.Val77Leu) c.97G>T (p.Val33Leu) c.174G>T (p.Arg58Ser) n.79G>T c.82G>T (p.Val28Leu)	ClinVar gnomAD v4
15	g.67164918T>A	CA392953519	SMAD3	c.-86T>A (n.-86T>A) c.230T>A (p.Val77Glu) c.98T>A (p.Val33Glu) c.175T>A (p.Cys59Ser) n.80T>A c.83T>A (p.Val28Glu)
15	g.67164918T>C	CA392953521	SMAD3	c.-86T>C (n.-86T>C) c.230T>C (p.Val77Ala) c.98T>C (p.Val33Ala) c.175T>C (p.Cys59Arg) n.80T>C c.83T>C (p.Val28Ala)	COSMIC COSMIC
15	g.67164918T>G	CA392953523	SMAD3	c.-86T>G (n.-86T>G) c.230T>G (p.Val77Gly) c.98T>G (p.Val33Gly) c.175T>G (p.Cys59Gly) n.80T>G c.83T>G (p.Val28Gly)	dbSNP
15	g.67164919G>A	CA392953525	SMAD3	c.-85G>A (n.-85G>A) c.231G>A (p.Val77=) c.99G>A (p.Val33=) c.176G>A (p.Cys59Tyr) n.81G>A c.84G>A (p.Val28=)
15	g.67164919G>C	CA392953526	SMAD3	c.-85G>C (n.-85G>C) c.231G>C (p.Val77=) c.99G>C (p.Val33=) c.176G>C (p.Cys59Ser) n.81G>C c.84G>C (p.Val28=)
15	g.67164919G>T	CA392953528	SMAD3	c.-85G>T (n.-85G>T) c.231G>T (p.Val77=) c.99G>T (p.Val33=) c.176G>T (p.Cys59Phe) n.81G>T c.84G>T (p.Val28=)
15	g.67164920T>A	CA392953530	SMAD3	c.-84T>A (n.-84T>A) c.232T>A (p.Ser78Thr) c.100T>A (p.Ser34Thr) c.177T>A (p.Cys59Ter) n.82T>A c.85T>A (p.Ser29Thr)
15	g.67164920T>C	CA392953532	SMAD3	c.-84T>C (n.-84T>C) c.232T>C (p.Ser78Pro) c.100T>C (p.Ser34Pro) c.177T>C (p.Cys59=) n.82T>C c.85T>C (p.Ser29Pro)	dbSNP
15	g.67164920T>G	CA392953533	SMAD3	c.-84T>G (n.-84T>G) c.232T>G (p.Ser78Ala) c.100T>G (p.Ser34Ala) c.177T>G (p.Cys59Trp) n.82T>G c.85T>G (p.Ser29Ala)
15	g.67164920_67164922dup	CA2629117465	SMAD3	c.-84_-82dup (n.-84_-82dup) c.232_234dup (p.Ser78_His79insSer) c.100_102dup (p.Ser34_His35insSer) c.177_179dup (p.Pro60_Ile61insPro) n.82_84dup c.85_87dup (p.Ser29_His30insSer)	gnomAD v4
15	g.67164921C>A	CA392953537	SMAD3	c.-83C>A (n.-83C>A) c.233C>A (p.Ser78Tyr) c.101C>A (p.Ser34Tyr) c.178C>A (p.Pro60Thr) n.83C>A c.86C>A (p.Ser29Tyr)
15	g.67164921C>G	CA392953539	SMAD3	c.-83C>G (n.-83C>G) c.233C>G (p.Ser78Cys) c.101C>G (p.Ser34Cys) c.178C>G (p.Pro60Ala) n.83C>G c.86C>G (p.Ser29Cys)	dbSNP
15	g.67164921C>T	CA392953536	SMAD3	c.-83C>T (n.-83C>T) c.233C>T (p.Ser78Phe) c.101C>T (p.Ser34Phe) c.178C>T (p.Pro60Ser) n.83C>T c.86C>T (p.Ser29Phe)	gnomAD v4
15	g.67164921_67164922insGG	CA2695220919	SMAD3	c.-83_-82insGG (n.-83_-82insGG) c.233_234insGG (p.His79AlafsTer?) c.101_102insGG (p.His35AlafsTer?) c.178_179insGG (p.Pro60ArgfsTer?) n.83_84insGG c.86_87insGG (p.His30AlafsTer?)
15	g.67164922C>A	CA392953544	SMAD3	c.-82C>A (n.-82C>A) c.234C>A (p.Ser78=) c.102C>A (p.Ser34=) c.179C>A (p.Pro60His) n.84C>A c.87C>A (p.Ser29=)
15	g.67164922C>G	CA392953541	SMAD3	c.-82C>G (n.-82C>G) c.234C>G (p.Ser78=) c.102C>G (p.Ser34=) c.179C>G (p.Pro60Arg) n.84C>G c.87C>G (p.Ser29=)
15	g.67164922C>T	CA392953543	SMAD3	c.-82C>T (n.-82C>T) c.234C>T (p.Ser78=) c.102C>T (p.Ser34=) c.179C>T (p.Pro60Leu) n.84C>T c.87C>T (p.Ser29=)	gnomAD v4
15	g.67164923C>A	CA392953546	SMAD3	c.-81C>A (n.-81C>A) c.235C>A (p.His79Asn) c.103C>A (p.His35Asn) c.180C>A (p.Pro60=) n.85C>A c.88C>A (p.His30Asn)
15	g.67164923C>G	CA392953548	SMAD3	c.-81C>G (n.-81C>G) c.235C>G (p.His79Asp) c.103C>G (p.His35Asp) c.180C>G (p.Pro60=) n.85C>G c.88C>G (p.His30Asp)
15	g.67164923C>T	CA392953550	SMAD3	c.-81C>T (n.-81C>T) c.235C>T (p.His79Tyr) c.103C>T (p.His35Tyr) c.180C>T (p.Pro60=) n.85C>T c.88C>T (p.His30Tyr)
15	g.67164924A>C	CA392953551	SMAD3	c.-80A>C (n.-80A>C) c.236A>C (p.His79Pro) c.104A>C (p.His35Pro) c.181A>C (p.Ile61Leu) n.86A>C c.89A>C (p.His30Pro)
15	g.67164924A>G	CA392953552	SMAD3	c.-80A>G (n.-80A>G) c.236A>G (p.His79Arg) c.104A>G (p.His35Arg) c.181A>G (p.Ile61Val) n.86A>G c.89A>G (p.His30Arg)	ClinVar gnomAD v4
15	g.67164924A>T	CA392953555	SMAD3	c.-80A>T (n.-80A>T) c.236A>T (p.His79Leu) c.104A>T (p.His35Leu) c.181A>T (p.Ile61Phe) n.86A>T c.89A>T (p.His30Leu)
15	g.67164925T>A	CA392953557	SMAD3	c.-79T>A (n.-79T>A) c.237T>A (p.His79Gln) c.105T>A (p.His35Gln) c.182T>A (p.Ile61Asn) n.87T>A c.90T>A (p.His30Gln)
15	g.67164925T>C	CA392953558	SMAD3	c.-79T>C (n.-79T>C) c.237T>C (p.His79=) c.105T>C (p.His35=) c.182T>C (p.Ile61Thr) n.87T>C c.90T>C (p.His30=)
15	g.67164925T>G	CA392953560	SMAD3	c.-79T>G (n.-79T>G) c.237T>G (p.His79Gln) c.105T>G (p.His35Gln) c.182T>G (p.Ile61Ser) n.87T>G c.90T>G (p.His30Gln)
15	g.67164926C>A	CA062059	SMAD3	c.-78C>A (n.-78C>A) c.238C>A (p.Arg80=) c.106C>A (p.Arg36=) c.183C>A (p.Ile61=) n.88C>A c.91C>A (p.Arg31=)	dbSNP ExAC gnomAD v2 gnomAD v4
15	g.67164926C=	CA2184410314	SMAD3	c.-78C= (n.-78C=) c.238C= (p.Arg80=) c.106C= (p.Arg36=) c.183C= (p.Ile61=) n.88C= c.91C= (p.Arg31=)
15	g.67164926C>G	CA392953563	SMAD3	c.-78C>G (n.-78C>G) c.238C>G (p.Arg80Gly) c.106C>G (p.Arg36Gly) c.183C>G (p.Ile61Met) n.88C>G c.91C>G (p.Arg31Gly)	dbSNP
15	g.67164926C>T	CA16614877	SMAD3	c.-78C>T (n.-78C>T) c.238C>T (p.Arg80Trp) c.106C>T (p.Arg36Trp) c.183C>T (p.Ile61=) n.88C>T c.91C>T (p.Arg31Trp)	ClinVar dbSNP
15	g.67164927G>A	CA062063	SMAD3	c.-77G>A (n.-77G>A) c.239G>A (p.Arg80Gln) c.107G>A (p.Arg36Gln) c.184G>A (p.Gly62Arg) n.89G>A c.92G>A (p.Arg31Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
15	g.67164927G>C	CA392953567	SMAD3	c.-77G>C (n.-77G>C) c.239G>C (p.Arg80Pro) c.107G>C (p.Arg36Pro) c.184G>C (p.Gly62Arg) n.89G>C c.92G>C (p.Arg31Pro)	ClinVar dbSNP
15	g.67164927G=	CA2184410315	SMAD3	c.-77G= (n.-77G=) c.239G= (p.Arg80=) c.107G= (p.Arg36=) c.184G= (p.Gly62=) n.89G= c.92G= (p.Arg31=)
15	g.67164927G>T	CA392953568	SMAD3	c.-77G>T (n.-77G>T) c.239G>T (p.Arg80Leu) c.107G>T (p.Arg36Leu) c.184G>T (p.Gly62Ter) n.89G>T c.92G>T (p.Arg31Leu)
15	g.67164928G>A	CA392953569	SMAD3	c.-76G>A (n.-76G>A) c.240G>A (p.Arg80=) c.108G>A (p.Arg36=) c.185G>A (p.Gly62Glu) n.90G>A c.93G>A (p.Arg31=)	dbSNP gnomAD v2 gnomAD v4
15	g.67164928G>C	CA392953570	SMAD3	c.-76G>C (n.-76G>C) c.240G>C (p.Arg80=) c.108G>C (p.Arg36=) c.185G>C (p.Gly62Ala) n.90G>C c.93G>C (p.Arg31=)
15	g.67164928G=	CA2184410316	SMAD3	c.-76G= (n.-76G=) c.240G= (p.Arg80=) c.108G= (p.Arg36=) c.185G= (p.Gly62=) n.90G= c.93G= (p.Arg31=)
15	g.67164928G>T	CA392953571	SMAD3	c.-76G>T (n.-76G>T) c.240G>T (p.Arg80=) c.108G>T (p.Arg36=) c.185G>T (p.Gly62Val) n.90G>T c.93G>T (p.Arg31=)
15	g.67164929A>C	CA392953572	SMAD3	c.-75A>C (n.-75A>C) c.241A>C (p.Lys81Gln) c.109A>C (p.Lys37Gln) c.186A>C (p.Gly62=) n.91A>C c.94A>C (p.Lys32Gln)
15	g.67164929A>G	CA392953573	SMAD3	c.-75A>G (n.-75A>G) c.241A>G (p.Lys81Glu) c.109A>G (p.Lys37Glu) c.186A>G (p.Gly62=) n.91A>G c.94A>G (p.Lys32Glu)
15	g.67164929A>T	CA392953574	SMAD3	c.-75A>T (n.-75A>T) c.241A>T (p.Lys81Ter) c.109A>T (p.Lys37Ter) c.186A>T (p.Gly62=) n.91A>T c.94A>T (p.Lys32Ter)	dbSNP
15	g.67164930A=	CA2184410317	SMAD3	c.-74A= (n.-74A=) c.242A= (p.Lys81=) c.110A= (p.Lys37=) c.187A= (p.Arg63=) n.92A= c.95A= (p.Lys32=)
15	g.67164930A>C	CA392953575	SMAD3	c.-74A>C (n.-74A>C) c.242A>C (p.Lys81Thr) c.110A>C (p.Lys37Thr) c.187A>C (p.Arg63=) n.92A>C c.95A>C (p.Lys32Thr)
15	g.67164930A>G	CA392953576	SMAD3	c.-74A>G (n.-74A>G) c.242A>G (p.Lys81Arg) c.110A>G (p.Lys37Arg) c.187A>G (p.Arg63Gly) n.92A>G c.95A>G (p.Lys32Arg)	dbSNP
15	g.67164930A>T	CA392953577	SMAD3	c.-74A>T (n.-74A>T) c.242A>T (p.Lys81Met) c.110A>T (p.Lys37Met) c.187A>T (p.Arg63Trp) n.92A>T c.95A>T (p.Lys32Met)	ClinVar
15	g.67164931G>A	CA392953579	SMAD3	c.-73G>A (n.-73G>A) c.243G>A (p.Lys81=) c.111G>A (p.Lys37=) c.188G>A (p.Arg63Lys) n.93G>A c.96G>A (p.Lys32=)	dbSNP gnomAD v3 gnomAD v4
15	g.67164931G>C	CA392953580	SMAD3	c.-73G>C (n.-73G>C) c.243G>C (p.Lys81Asn) c.111G>C (p.Lys37Asn) c.188G>C (p.Arg63Thr) n.93G>C c.96G>C (p.Lys32Asn)	COSMIC COSMIC
15	g.67164931G=	CA2184410318	SMAD3	c.-73G= (n.-73G=) c.243G= (p.Lys81=) c.111G= (p.Lys37=) c.188G= (p.Arg63=) n.93G= c.96G= (p.Lys32=)
15	g.67164931G>T	CA392953578	SMAD3	c.-73G>T (n.-73G>T) c.243G>T (p.Lys81Asn) c.111G>T (p.Lys37Asn) c.188G>T (p.Arg63Met) n.93G>T c.96G>T (p.Lys32Asn)	ClinVar dbSNP gnomAD v4 COSMIC COSMIC
15	g.67164934dup	CA658656499	SMAD3	c.-70dup (n.-70dup) c.246dup (p.Leu83AlafsTer28) c.114dup (p.Leu39AlafsTer28) c.191dup (p.Ser65LeufsTer?) n.96dup c.99dup (p.Leu34AlafsTer28)	ClinVar dbSNP
15	g.67164932G>A	CA392953581	SMAD3	c.-72G>A (n.-72G>A) c.244G>A (p.Gly82Arg) c.112G>A (p.Gly38Arg) c.189G>A (p.Arg63=) n.94G>A c.97G>A (p.Gly33Arg)	ClinVar dbSNP
15	g.67164932G>C	CA392953582	SMAD3	c.-72G>C (n.-72G>C) c.244G>C (p.Gly82Arg) c.112G>C (p.Gly38Arg) c.189G>C (p.Arg63Ser) n.94G>C c.97G>C (p.Gly33Arg)
15	g.67164932G=	CA2184410319	SMAD3	c.-72G= (n.-72G=) c.244G= (p.Gly82=) c.112G= (p.Gly38=) c.189G= (p.Arg63=) n.94G= c.97G= (p.Gly33=)
15	g.67164932G>T	CA392953583	SMAD3	c.-72G>T (n.-72G>T) c.244G>T (p.Gly82Trp) c.112G>T (p.Gly38Trp) c.189G>T (p.Arg63Ser) n.94G>T c.97G>T (p.Gly33Trp)
15	g.67164933G>A	CA392953584	SMAD3	c.-71G>A (n.-71G>A) c.245G>A (p.Gly82Glu) c.113G>A (p.Gly38Glu) c.190G>A (p.Gly64Ser) n.95G>A c.98G>A (p.Gly33Glu)
15	g.67164933G>C	CA392953585	SMAD3	c.-71G>C (n.-71G>C) c.245G>C (p.Gly82Ala) c.113G>C (p.Gly38Ala) c.190G>C (p.Gly64Arg) n.95G>C c.98G>C (p.Gly33Ala)
15	g.67164933G=	CA2184410320	SMAD3	c.-71G= (n.-71G=) c.245G= (p.Gly82=) c.113G= (p.Gly38=) c.190G= (p.Gly64=) n.95G= c.98G= (p.Gly33=)
15	g.67164933G>T	CA392953586	SMAD3	c.-71G>T (n.-71G>T) c.245G>T (p.Gly82Val) c.113G>T (p.Gly38Val) c.190G>T (p.Gly64Cys) n.95G>T c.98G>T (p.Gly33Val)
15	g.67164934G>A	CA392953587	SMAD3	c.-70G>A (n.-70G>A) c.246G>A (p.Gly82=) c.114G>A (p.Gly38=) c.191G>A (p.Gly64Asp) n.96G>A c.99G>A (p.Gly33=)	dbSNP
15	g.67164934G>C	CA392953588	SMAD3	c.-70G>C (n.-70G>C) c.246G>C (p.Gly82=) c.114G>C (p.Gly38=) c.191G>C (p.Gly64Ala) n.96G>C c.99G>C (p.Gly33=)	dbSNP
15	g.67164934G=	CA2184410321	SMAD3	c.-70G= (n.-70G=) c.246G= (p.Gly82=) c.114G= (p.Gly38=) c.191G= (p.Gly64=) n.96G= c.99G= (p.Gly33=)
15	g.67164934G>T	CA392953589	SMAD3	c.-70G>T (n.-70G>T) c.246G>T (p.Gly82=) c.114G>T (p.Gly38=) c.191G>T (p.Gly64Val) n.96G>T c.99G>T (p.Gly33=)	dbSNP
15	g.67164934_67164935dup	CA16614482	SMAD3	c.-70_-69dup (n.-70_-69dup) c.246_247dup (p.Leu83ArgfsTer?) c.114_115dup (p.Leu39ArgfsTer?) c.191_192dup (p.Ser65AlafsTer28) n.96_97dup c.99_100dup (p.Leu34ArgfsTer?)	ClinVar dbSNP
15	g.67164935C>A	CA392953590	SMAD3	c.-69C>A (n.-69C>A) c.247C>A (p.Leu83Ile) c.115C>A (p.Leu39Ile) c.192C>A (p.Gly64=) n.97C>A c.100C>A (p.Leu34Ile)	dbSNP
15	g.67164935C>G	CA392953591	SMAD3	c.-69C>G (n.-69C>G) c.247C>G (p.Leu83Val) c.115C>G (p.Leu39Val) c.192C>G (p.Gly64=) n.97C>G c.100C>G (p.Leu34Val)
15	g.67164935C>T	CA392953592	SMAD3	c.-69C>T (n.-69C>T) c.247C>T (p.Leu83Phe) c.115C>T (p.Leu39Phe) c.192C>T (p.Gly64=) n.97C>T c.100C>T (p.Leu34Phe)	dbSNP
15	g.67164936T>A	CA392953594	SMAD3	c.-68T>A (n.-68T>A) c.248T>A (p.Leu83His) c.116T>A (p.Leu39His) c.193T>A (p.Ser65Thr) n.98T>A c.101T>A (p.Leu34His)
15	g.67164936T>C	CA392953595	SMAD3	c.-68T>C (n.-68T>C) c.248T>C (p.Leu83Pro) c.116T>C (p.Leu39Pro) c.193T>C (p.Ser65Pro) n.98T>C c.101T>C (p.Leu34Pro)	dbSNP
15	g.67164936T>G	CA392953593	SMAD3	c.-68T>G (n.-68T>G) c.248T>G (p.Leu83Arg) c.116T>G (p.Leu39Arg) c.193T>G (p.Ser65Ala) n.98T>G c.101T>G (p.Leu34Arg)
15	g.67164937C>A	CA392953823	SMAD3	c.-67C>A (n.-67C>A) c.249C>A (p.Leu83=) c.117C>A (p.Leu39=) c.194C>A (p.Ser65Tyr) n.99C>A c.102C>A (p.Leu34=)
15	g.67164937C=	CA2184410322	SMAD3	c.-67C= (n.-67C=) c.249C= (p.Leu83=) c.117C= (p.Leu39=) c.194C= (p.Ser65=) n.99C= c.102C= (p.Leu34=)
15	g.67164937C>G	CA392953824	SMAD3	c.-67C>G (n.-67C>G) c.249C>G (p.Leu83=) c.117C>G (p.Leu39=) c.194C>G (p.Ser65Cys) n.99C>G c.102C>G (p.Leu34=)
15	g.67164937C>T	CA062069	SMAD3	c.-67C>T (n.-67C>T) c.249C>T (p.Leu83=) c.117C>T (p.Leu39=) c.194C>T (p.Ser65Phe) n.99C>T c.102C>T (p.Leu34=)	ClinVar dbSNP ExAC gnomAD v2
15	g.67164938C>A	CA392953825	SMAD3	c.-66C>A (n.-66C>A) c.250C>A (p.Pro84Thr) c.118C>A (p.Pro40Thr) c.195C>A (p.Ser65=) n.100C>A c.103C>A (p.Pro35Thr)
15	g.67164938C>G	CA392953826	SMAD3	c.-66C>G (n.-66C>G) c.250C>G (p.Pro84Ala) c.118C>G (p.Pro40Ala) c.195C>G (p.Ser65=) n.100C>G c.103C>G (p.Pro35Ala)
15	g.67164938C>T	CA392953827	SMAD3	c.-66C>T (n.-66C>T) c.250C>T (p.Pro84Ser) c.118C>T (p.Pro40Ser) c.195C>T (p.Ser65=) n.100C>T c.103C>T (p.Pro35Ser)	dbSNP
15	g.67164939C>A	CA392953830	SMAD3	c.-65C>A (n.-65C>A) c.251C>A (p.Pro84His) c.119C>A (p.Pro40His) c.196C>A (p.Leu66Ile) n.101C>A c.104C>A (p.Pro35His)	dbSNP
15	g.67164939C>G	CA392953828	SMAD3	c.-65C>G (n.-65C>G) c.251C>G (p.Pro84Arg) c.119C>G (p.Pro40Arg) c.196C>G (p.Leu66Val) n.101C>G c.104C>G (p.Pro35Arg)
15	g.67164939C>T	CA392953829	SMAD3	c.-65C>T (n.-65C>T) c.251C>T (p.Pro84Leu) c.119C>T (p.Pro40Leu) c.196C>T (p.Leu66Phe) n.101C>T c.104C>T (p.Pro35Leu)
15	g.67164940T>A	CA392953831	SMAD3	c.-64T>A (n.-64T>A) c.252T>A (p.Pro84=) c.120T>A (p.Pro40=) c.197T>A (p.Leu66His) n.102T>A c.105T>A (p.Pro35=)
15	g.67164940T>C	CA392953832	SMAD3	c.-64T>C (n.-64T>C) c.252T>C (p.Pro84=) c.120T>C (p.Pro40=) c.197T>C (p.Leu66Pro) n.102T>C c.105T>C (p.Pro35=)
15	g.67164940T>G	CA392953833	SMAD3	c.-64T>G (n.-64T>G) c.252T>G (p.Pro84=) c.120T>G (p.Pro40=) c.197T>G (p.Leu66Arg) n.102T>G c.105T>G (p.Pro35=)
15	g.67164941C>A	CA392953834	SMAD3	c.-63C>A (n.-63C>A) c.253C>A (p.His85Asn) c.121C>A (p.His41Asn) c.198C>A (p.Leu66=) n.103C>A c.106C>A (p.His36Asn)
15	g.67164941C>G	CA392953835	SMAD3	c.-63C>G (n.-63C>G) c.253C>G (p.His85Asp) c.121C>G (p.His41Asp) c.198C>G (p.Leu66=) n.103C>G c.106C>G (p.His36Asp)
15	g.67164941C>T	CA392953836	SMAD3	c.-63C>T (n.-63C>T) c.253C>T (p.His85Tyr) c.121C>T (p.His41Tyr) c.198C>T (p.Leu66=) n.103C>T c.106C>T (p.His36Tyr)	ClinVar
15	g.67164942A>C	CA392953838	SMAD3	c.-62A>C (n.-62A>C) c.254A>C (p.His85Pro) c.122A>C (p.His41Pro) c.199A>C (p.Met67Leu) n.104A>C c.107A>C (p.His36Pro)
15	g.67164942A>G	CA392953839	SMAD3	c.-62A>G (n.-62A>G) c.254A>G (p.His85Arg) c.122A>G (p.His41Arg) c.199A>G (p.Met67Val) n.104A>G c.107A>G (p.His36Arg)
15	g.67164942A>T	CA392953837	SMAD3	c.-62A>T (n.-62A>T) c.254A>T (p.His85Leu) c.122A>T (p.His41Leu) c.199A>T (p.Met67Leu) n.104A>T c.107A>T (p.His36Leu)	dbSNP
15	g.67164943T>A	CA392953841	SMAD3	c.-61T>A (n.-61T>A) c.255T>A (p.His85Gln) c.123T>A (p.His41Gln) c.200T>A (p.Met67Lys) n.105T>A c.108T>A (p.His36Gln)
15	g.67164943T>C	CA392953840	SMAD3	c.-61T>C (n.-61T>C) c.255T>C (p.His85=) c.123T>C (p.His41=) c.200T>C (p.Met67Thr) n.105T>C c.108T>C (p.His36=)
15	g.67164943T>G	CA392953842	SMAD3	c.-61T>G (n.-61T>G) c.255T>G (p.His85Gln) c.123T>G (p.His41Gln) c.200T>G (p.Met67Arg) n.105T>G c.108T>G (p.His36Gln)	gnomAD v4
15	g.67164944G>A	CA392953843	SMAD3	c.-60G>A (n.-60G>A) c.256G>A (p.Val86Ile) c.124G>A (p.Val42Ile) c.201G>A (p.Met67Ile) n.106G>A c.109G>A (p.Val37Ile)	dbSNP gnomAD v4
15	g.67164944G>C	CA392953844	SMAD3	c.-60G>C (n.-60G>C) c.256G>C (p.Val86Leu) c.124G>C (p.Val42Leu) c.201G>C (p.Met67Ile) n.106G>C c.109G>C (p.Val37Leu)
15	g.67164944G>T	CA392953845	SMAD3	c.-60G>T (n.-60G>T) c.256G>T (p.Val86Phe) c.124G>T (p.Val42Phe) c.201G>T (p.Met67Ile) n.106G>T c.109G>T (p.Val37Phe)
15	g.67164945T>A	CA392953846	SMAD3	c.-59T>A (n.-59T>A) c.257T>A (p.Val86Asp) c.125T>A (p.Val42Asp) c.202T>A (p.Ser68Thr) n.107T>A c.110T>A (p.Val37Asp)
15	g.67164945T>C	CA392953847	SMAD3	c.-59T>C (n.-59T>C) c.257T>C (p.Val86Ala) c.125T>C (p.Val42Ala) c.202T>C (p.Ser68Pro) n.107T>C c.110T>C (p.Val37Ala)
15	g.67164945T>G	CA392953848	SMAD3	c.-59T>G (n.-59T>G) c.257T>G (p.Val86Gly) c.125T>G (p.Val42Gly) c.202T>G (p.Ser68Ala) n.107T>G c.110T>G (p.Val37Gly)	dbSNP
15	g.67164946C>A	CA392953849	SMAD3	c.-58C>A (n.-58C>A) c.258C>A (p.Val86=) c.126C>A (p.Val42=) c.203C>A (p.Ser68Ter) n.108C>A c.111C>A (p.Val37=)	ClinVar dbSNP
15	g.67164946C=	CA2184410323	SMAD3	c.-58C= (n.-58C=) c.258C= (p.Val86=) c.126C= (p.Val42=) c.203C= (p.Ser68=) n.108C= c.111C= (p.Val37=)
15	g.67164946C>G	CA392953850	SMAD3	c.-58C>G (n.-58C>G) c.258C>G (p.Val86=) c.126C>G (p.Val42=) c.203C>G (p.Ser68Ter) n.108C>G c.111C>G (p.Val37=)
15	g.67164946C>T	CA392953851	SMAD3	c.-58C>T (n.-58C>T) c.258C>T (p.Val86=) c.126C>T (p.Val42=) c.203C>T (p.Ser68Leu) n.108C>T c.111C>T (p.Val37=)
15	g.67164947A>C	CA392953852	SMAD3	c.-57A>C (n.-57A>C) c.259A>C (p.Ile87Leu) c.127A>C (p.Ile43Leu) c.204A>C (p.Ser68=) n.109A>C c.112A>C (p.Ile38Leu)
15	g.67164947A>G	CA392953853	SMAD3	c.-57A>G (n.-57A>G) c.259A>G (p.Ile87Val) c.127A>G (p.Ile43Val) c.204A>G (p.Ser68=) n.109A>G c.112A>G (p.Ile38Val)
15	g.67164947A>T	CA392953854	SMAD3	c.-57A>T (n.-57A>T) c.259A>T (p.Ile87Phe) c.127A>T (p.Ile43Phe) c.204A>T (p.Ser68=) n.109A>T c.112A>T (p.Ile38Phe)
15	g.67164948T>A	CA392953856	SMAD3	c.-56T>A (n.-56T>A) c.260T>A (p.Ile87Asn) c.128T>A (p.Ile43Asn) c.205T>A (p.Ser69Thr) n.110T>A c.113T>A (p.Ile38Asn)
15	g.67164948T>C	CA322718	SMAD3	c.-56T>C (n.-56T>C) c.260T>C (p.Ile87Thr) c.128T>C (p.Ile43Thr) c.205T>C (p.Ser69Pro) n.110T>C c.113T>C (p.Ile38Thr)	ClinVar dbSNP
15	g.67164948T>G	CA392953855	SMAD3	c.-56T>G (n.-56T>G) c.260T>G (p.Ile87Ser) c.128T>G (p.Ile43Ser) c.205T>G (p.Ser69Ala) n.110T>G c.113T>G (p.Ile38Ser)
15	g.67164948T=	CA2184410324	SMAD3	c.-56T= (n.-56T=) c.260T= (p.Ile87=) c.128T= (p.Ile43=) c.205T= (p.Ser69=) n.110T= c.113T= (p.Ile38=)
15	g.67164949C>A	CA392953857	SMAD3	c.-55C>A (n.-55C>A) c.261C>A (p.Ile87=) c.129C>A (p.Ile43=) c.206C>A (p.Ser69Tyr) n.111C>A c.114C>A (p.Ile38=)	COSMIC COSMIC
15	g.67164949C=	CA2184410325	SMAD3	c.-55C= (n.-55C=) c.261C= (p.Ile87=) c.129C= (p.Ile43=) c.206C= (p.Ser69=) n.111C= c.114C= (p.Ile38=)
15	g.67164949C>G	CA392953858	SMAD3	c.-55C>G (n.-55C>G) c.261C>G (p.Ile87Met) c.129C>G (p.Ile43Met) c.206C>G (p.Ser69Cys) n.111C>G c.114C>G (p.Ile38Met)
15	g.67164949C>T	CA392953859	SMAD3	c.-55C>T (n.-55C>T) c.261C>T (p.Ile87=) c.129C>T (p.Ile43=) c.206C>T (p.Ser69Phe) n.111C>T c.114C>T (p.Ile38=)	ClinVar dbSNP gnomAD v2 gnomAD v4
15	g.67164950T>A	CA392953860	SMAD3	c.-54T>A (n.-54T>A) c.262T>A (p.Tyr88Asn) c.130T>A (p.Tyr44Asn) c.207T>A (p.Ser69=) n.112T>A c.115T>A (p.Tyr39Asn)
15	g.67164950T>C	CA392953861	SMAD3	c.-54T>C (n.-54T>C) c.262T>C (p.Tyr88His) c.130T>C (p.Tyr44His) c.207T>C (p.Ser69=) n.112T>C c.115T>C (p.Tyr39His)	ClinVar
15	g.67164950T>G	CA392953862	SMAD3	c.-54T>G (n.-54T>G) c.262T>G (p.Tyr88Asp) c.130T>G (p.Tyr44Asp) c.207T>G (p.Ser69=) n.112T>G c.115T>G (p.Tyr39Asp)
15	g.67164950T=	CA2184410326	SMAD3	c.-54T= (n.-54T=) c.262T= (p.Tyr88=) c.130T= (p.Tyr44=) c.207T= (p.Ser69=) n.112T= c.115T= (p.Tyr39=)
15	g.67164951A=	CA2184410327	SMAD3	c.-53A= (n.-53A=) c.263A= (p.Tyr88=) c.131A= (p.Tyr44=) c.208A= (p.Thr70=) n.113A= c.116A= (p.Tyr39=)
15	g.67164951A>C	CA392953863	SMAD3	c.-53A>C (n.-53A>C) c.263A>C (p.Tyr88Ser) c.131A>C (p.Tyr44Ser) c.208A>C (p.Thr70Pro) n.113A>C c.116A>C (p.Tyr39Ser)	dbSNP
15	g.67164951A>G	CA392953864	SMAD3	c.-53A>G (n.-53A>G) c.263A>G (p.Tyr88Cys) c.131A>G (p.Tyr44Cys) c.208A>G (p.Thr70Ala) n.113A>G c.116A>G (p.Tyr39Cys)	ClinVar dbSNP
15	g.67164951A>T	CA392953865	SMAD3	c.-53A>T (n.-53A>T) c.263A>T (p.Tyr88Phe) c.131A>T (p.Tyr44Phe) c.208A>T (p.Thr70Ser) n.113A>T c.116A>T (p.Tyr39Phe)	dbSNP
15	g.67164951dup	CA322123	SMAD3	c.-53dup (n.-53dup) c.263dup (p.Tyr88Ter) c.131dup (p.Tyr44Ter) c.208dup (p.Thr70AsnfsTer?) n.113dup c.116dup (p.Tyr39Ter)	ClinVar dbSNP
15	g.67164952C>A	CA392953866	SMAD3	c.-52C>A (n.-52C>A) c.264C>A (p.Tyr88Ter) c.132C>A (p.Tyr44Ter) c.209C>A (p.Thr70Asn) n.114C>A c.117C>A (p.Tyr39Ter)
15	g.67164952C=	CA2184410328	SMAD3	c.-52C= (n.-52C=) c.264C= (p.Tyr88=) c.132C= (p.Tyr44=) c.209C= (p.Thr70=) n.114C= c.117C= (p.Tyr39=)
15	g.67164952C>G	CA392953867	SMAD3	c.-52C>G (n.-52C>G) c.264C>G (p.Tyr88Ter) c.132C>G (p.Tyr44Ter) c.209C>G (p.Thr70Ser) n.114C>G c.117C>G (p.Tyr39Ter)	dbSNP gnomAD v2 gnomAD v4
15	g.67164952C>T	CA392953868	SMAD3	c.-52C>T (n.-52C>T) c.264C>T (p.Tyr88=) c.132C>T (p.Tyr44=) c.209C>T (p.Thr70Ile) n.114C>T c.117C>T (p.Tyr39=)	dbSNP
15	g.67164953T>A	CA392953871	SMAD3	c.-51T>A (n.-51T>A) c.265T>A (p.Cys89Ser) c.133T>A (p.Cys45Ser) c.210T>A (p.Thr70=) n.115T>A c.118T>A (p.Cys40Ser)
15	g.67164953T>C	CA392953870	SMAD3	c.-51T>C (n.-51T>C) c.265T>C (p.Cys89Arg) c.133T>C (p.Cys45Arg) c.210T>C (p.Thr70=) n.115T>C c.118T>C (p.Cys40Arg)
15	g.67164953T>G	CA392953869	SMAD3	c.-51T>G (n.-51T>G) c.265T>G (p.Cys89Gly) c.133T>G (p.Cys45Gly) c.210T>G (p.Thr70=) n.115T>G c.118T>G (p.Cys40Gly)
15	g.67164953T=	CA2184410329	SMAD3	c.-51T= (n.-51T=) c.265T= (p.Cys89=) c.133T= (p.Cys45=) c.210T= (p.Thr70=) n.115T= c.118T= (p.Cys40=)
15	g.67164954G>A	CA392953872	SMAD3	c.-50G>A (n.-50G>A) c.266G>A (p.Cys89Tyr) c.134G>A (p.Cys45Tyr) c.211G>A (p.Ala71Thr) n.116G>A c.119G>A (p.Cys40Tyr)	ClinVar dbSNP
15	g.67164954G>C	CA392953873	SMAD3	c.-50G>C (n.-50G>C) c.266G>C (p.Cys89Ser) c.134G>C (p.Cys45Ser) c.211G>C (p.Ala71Pro) n.116G>C c.119G>C (p.Cys40Ser)	dbSNP
15	g.67164954G=	CA2184410330	SMAD3	c.-50G= (n.-50G=) c.266G= (p.Cys89=) c.134G= (p.Cys45=) c.211G= (p.Ala71=) n.116G= c.119G= (p.Cys40=)
15	g.67164954G>T	CA392953874	SMAD3	c.-50G>T (n.-50G>T) c.266G>T (p.Cys89Phe) c.134G>T (p.Cys45Phe) c.211G>T (p.Ala71Ser) n.116G>T c.119G>T (p.Cys40Phe)	dbSNP
15	g.67164957_67164959dup	CA915946050	SMAD3	c.-47_-45dup (n.-47_-45dup) c.269_271dup (p.Arg90_Leu91insArg) c.137_139dup (p.Arg46_Leu47insArg) c.214_216dup (p.Ala72_Cys73insAla) n.119_121dup c.122_124dup (p.Arg41_Leu42insArg)	ClinVar dbSNP
15	g.67164955C>A	CA392953875	SMAD3	c.-49C>A (n.-49C>A) c.267C>A (p.Cys89Ter) c.135C>A (p.Cys45Ter) c.212C>A (p.Ala71Asp) n.117C>A c.120C>A (p.Cys40Ter)
15	g.67164955C>G	CA392953876	SMAD3	c.-49C>G (n.-49C>G) c.267C>G (p.Cys89Trp) c.135C>G (p.Cys45Trp) c.212C>G (p.Ala71Gly) n.117C>G c.120C>G (p.Cys40Trp)
15	g.67164955C>T	CA392953877	SMAD3	c.-49C>T (n.-49C>T) c.267C>T (p.Cys89=) c.135C>T (p.Cys45=) c.212C>T (p.Ala71Val) n.117C>T c.120C>T (p.Cys40=)	dbSNP
15	g.67164956C>A	CA392953878	SMAD3	c.-48C>A (n.-48C>A) c.268C>A (p.Arg90Ser) c.136C>A (p.Arg46Ser) c.213C>A (p.Ala71=) n.118C>A c.121C>A (p.Arg41Ser)
15	g.67164956C=	CA2184410331	SMAD3	c.-48C= (n.-48C=) c.268C= (p.Arg90=) c.136C= (p.Arg46=) c.213C= (p.Ala71=) n.118C= c.121C= (p.Arg41=)
15	g.67164956C>G	CA392953879	SMAD3	c.-48C>G (n.-48C>G) c.268C>G (p.Arg90Gly) c.136C>G (p.Arg46Gly) c.213C>G (p.Ala71=) n.118C>G c.121C>G (p.Arg41Gly)	dbSNP
15	g.67164956C>T	CA392953880	SMAD3	c.-48C>T (n.-48C>T) c.268C>T (p.Arg90Cys) c.136C>T (p.Arg46Cys) c.213C>T (p.Ala71=) n.118C>T c.121C>T (p.Arg41Cys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15	g.67164957G>A	CA10587871	SMAD3	c.-47G>A (n.-47G>A) c.269G>A (p.Arg90His) c.137G>A (p.Arg46His) c.214G>A (p.Ala72Thr) n.119G>A c.122G>A (p.Arg41His)	ClinVar dbSNP gnomAD v4 COSMIC COSMIC
15	g.67164957G>C	CA392953881	SMAD3	c.-47G>C (n.-47G>C) c.269G>C (p.Arg90Pro) c.137G>C (p.Arg46Pro) c.214G>C (p.Ala72Pro) n.119G>C c.122G>C (p.Arg41Pro)	ClinVar
15	g.67164957G=	CA2184410332	SMAD3	c.-47G= (n.-47G=) c.269G= (p.Arg90=) c.137G= (p.Arg46=) c.214G= (p.Ala72=) n.119G= c.122G= (p.Arg41=)
15	g.67164957G>T	CA392953882	SMAD3	c.-47G>T (n.-47G>T) c.269G>T (p.Arg90Leu) c.137G>T (p.Arg46Leu) c.214G>T (p.Ala72Ser) n.119G>T c.122G>T (p.Arg41Leu)	ClinVar gnomAD v4 COSMIC
15	g.67164958C>A	CA392953885	SMAD3	c.-46C>A (n.-46C>A) c.270C>A (p.Arg90=) c.138C>A (p.Arg46=) c.215C>A (p.Ala72Asp) n.120C>A c.123C>A (p.Arg41=)
15	g.67164958C>G	CA392953884	SMAD3	c.-46C>G (n.-46C>G) c.270C>G (p.Arg90=) c.138C>G (p.Arg46=) c.215C>G (p.Ala72Gly) n.120C>G c.123C>G (p.Arg41=)
15	g.67164958C>T	CA392953883	SMAD3	c.-46C>T (n.-46C>T) c.270C>T (p.Arg90=) c.138C>T (p.Arg46=) c.215C>T (p.Ala72Val) n.120C>T c.123C>T (p.Arg41=)
15	g.67164958_67164959delinsAA	CA1139664042	SMAD3	c.-46_-45delinsAA (n.-46_-45delinsAA) c.270_271delinsAA (p.Leu91Met) c.138_139delinsAA (p.Leu47Met) c.215_216delinsAA (p.Ala72Glu) n.120_121delinsAA c.123_124delinsAA (p.Leu42Met)	ClinVar dbSNP
15	g.67164958_67164959delinsCC	CA2184410333	SMAD3	c.-46_-45delinsCC (n.-46_-45delinsCC) c.270_271delinsCC (p.Arg90=) c.138_139delinsCC (p.Arg46=) c.215_216delinsCC (p.Ala72=) n.120_121delinsCC c.123_124delinsCC (p.Arg41=)
15	g.67164959C>A	CA392953886	SMAD3	c.-45C>A (n.-45C>A) c.271C>A (p.Leu91Met) c.139C>A (p.Leu47Met) c.216C>A (p.Ala72=) n.121C>A c.124C>A (p.Leu42Met)
15	g.67164959C=	CA2184410334	SMAD3	c.-45C= (n.-45C=) c.271C= (p.Leu91=) c.139C= (p.Leu47=) c.216C= (p.Ala72=) n.121C= c.124C= (p.Leu42=)
15	g.67164959C>G	CA392953887	SMAD3	c.-45C>G (n.-45C>G) c.271C>G (p.Leu91Val) c.139C>G (p.Leu47Val) c.216C>G (p.Ala72=) n.121C>G c.124C>G (p.Leu42Val)
15	g.67164959C>T	CA062082	SMAD3	c.-45C>T (n.-45C>T) c.271C>T (p.Leu91=) c.139C>T (p.Leu47=) c.216C>T (p.Ala72=) n.121C>T c.124C>T (p.Leu42=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15	g.67164960T>A	CA392953888	SMAD3	c.-44T>A (n.-44T>A) c.272T>A (p.Leu91Gln) c.140T>A (p.Leu47Gln) c.217T>A (p.Cys73Ser) n.122T>A c.125T>A (p.Leu42Gln)
15	g.67164960T>C	CA392953889	SMAD3	c.-44T>C (n.-44T>C) c.272T>C (p.Leu91Pro) c.140T>C (p.Leu47Pro) c.217T>C (p.Cys73Arg) n.122T>C c.125T>C (p.Leu42Pro)	ClinVar dbSNP
15	g.67164960T>G	CA392953890	SMAD3	c.-44T>G (n.-44T>G) c.272T>G (p.Leu91Arg) c.140T>G (p.Leu47Arg) c.217T>G (p.Cys73Gly) n.122T>G c.125T>G (p.Leu42Arg)
15	g.67164961G>A	CA392953891	SMAD3	c.-43G>A (n.-43G>A) c.273G>A (p.Leu91=) c.141G>A (p.Leu47=) c.218G>A (p.Cys73Tyr) n.123G>A c.126G>A (p.Leu42=)	dbSNP gnomAD v2
15	g.67164961G>C	CA392953892	SMAD3	c.-43G>C (n.-43G>C) c.273G>C (p.Leu91=) c.141G>C (p.Leu47=) c.218G>C (p.Cys73Ser) n.123G>C c.126G>C (p.Leu42=)
15	g.67164961G=	CA2184410335	SMAD3	c.-43G= (n.-43G=) c.273G= (p.Leu91=) c.141G= (p.Leu47=) c.218G= (p.Cys73=) n.123G= c.126G= (p.Leu42=)
15	g.67164961G>T	CA392953893	SMAD3	c.-43G>T (n.-43G>T) c.273G>T (p.Leu91=) c.141G>T (p.Leu47=) c.218G>T (p.Cys73Phe) n.123G>T c.126G>T (p.Leu42=)
15	g.67164962T>A	CA392953894	SMAD3	c.-42T>A (n.-42T>A) c.274T>A (p.Trp92Arg) c.142T>A (p.Trp48Arg) c.219T>A (p.Cys73Ter) n.124T>A c.127T>A (p.Trp43Arg)
15	g.67164962T>C	CA392953895	SMAD3	c.-42T>C (n.-42T>C) c.274T>C (p.Trp92Arg) c.142T>C (p.Trp48Arg) c.219T>C (p.Cys73=) n.124T>C c.127T>C (p.Trp43Arg)
15	g.67164962T>G	CA392953896	SMAD3	c.-42T>G (n.-42T>G) c.274T>G (p.Trp92Gly) c.142T>G (p.Trp48Gly) c.219T>G (p.Cys73Trp) n.124T>G c.127T>G (p.Trp43Gly)
15	g.67164962_67164969delinsTGGCGATG	CA2184410336	SMAD3	c.-42_-35delinsTGGCGATG (n.-42_-35delinsTGGCGATG) c.274_281delinsTGGCGATG (p.Trp92=) c.142_149delinsTGGCGATG (p.Trp48=) c.219_226delinsTGGCGATG (p.Cys73=) n.124_131delinsTGGCGATG c.127_134delinsTGGCGATG (p.Trp43=)
15	g.67164963G>A	CA392953898	SMAD3	c.-41G>A (n.-41G>A) c.275G>A (p.Trp92Ter) c.143G>A (p.Trp48Ter) c.220G>A (p.Gly74Ser) n.125G>A c.128G>A (p.Trp43Ter)
15	g.67164963G>C	CA392953899	SMAD3	c.-41G>C (n.-41G>C) c.275G>C (p.Trp92Ser) c.143G>C (p.Trp48Ser) c.220G>C (p.Gly74Arg) n.125G>C c.128G>C (p.Trp43Ser)
15	g.67164963G>T	CA392953897	SMAD3	c.-41G>T (n.-41G>T) c.275G>T (p.Trp92Leu) c.143G>T (p.Trp48Leu) c.220G>T (p.Gly74Cys) n.125G>T c.128G>T (p.Trp43Leu)
15	g.67164964del	CA2731023669	SMAD3	c.-40del (n.-40del) c.276del (p.Trp92CysfsTer24) c.144del (p.Trp48CysfsTer24) c.221del (p.Gly74AlafsTer18) n.126del c.129del (p.Trp43CysfsTer24)	dbSNP
15	g.67164963_67164969delinsC	CA320096	SMAD3	c.-41_-35delinsC (n.-41_-35delinsC) c.275_281delinsC (p.Trp92_Trp94delinsSer) c.143_149delinsC (p.Trp48_Trp50delinsSer) c.220_226delinsC (p.Gly74_Gly76delinsArg) n.125_131delinsC c.128_134delinsC (p.Trp43_Trp45delinsSer)	ClinVar dbSNP
15	g.67164964G>A	CA392953902	SMAD3	c.-40G>A (n.-40G>A) c.276G>A (p.Trp92Ter) c.144G>A (p.Trp48Ter) c.221G>A (p.Gly74Asp) n.126G>A c.129G>A (p.Trp43Ter)	ClinVar dbSNP
15	g.67164964G>C	CA392953900	SMAD3	c.-40G>C (n.-40G>C) c.276G>C (p.Trp92Cys) c.144G>C (p.Trp48Cys) c.221G>C (p.Gly74Ala) n.126G>C c.129G>C (p.Trp43Cys)	ClinVar dbSNP
15	g.67164964G>T	CA392953901	SMAD3	c.-40G>T (n.-40G>T) c.276G>T (p.Trp92Cys) c.144G>T (p.Trp48Cys) c.221G>T (p.Gly74Val) n.126G>T c.129G>T (p.Trp43Cys)
15	g.67164965C>A	CA491071601	SMAD3	c.-39C>A (n.-39C>A) c.277C>A (p.Arg93=) c.145C>A (p.Arg49=) c.222C>A (p.Gly74=) n.127C>A c.130C>A (p.Arg44=)	dbSNP
15	g.67164965C=	CA2184410337	SMAD3	c.-39C= (n.-39C=) c.277C= (p.Arg93=) c.145C= (p.Arg49=) c.222C= (p.Gly74=) n.127C= c.130C= (p.Arg44=)
15	g.67164965C>G	CA392953903	SMAD3	c.-39C>G (n.-39C>G) c.277C>G (p.Arg93Gly) c.145C>G (p.Arg49Gly) c.222C>G (p.Gly74=) n.127C>G c.130C>G (p.Arg44Gly)
15	g.67164965C>T	CA062085	SMAD3	c.-39C>T (n.-39C>T) c.277C>T (p.Arg93Ter) c.145C>T (p.Arg49Ter) c.222C>T (p.Gly74=) n.127C>T c.130C>T (p.Arg44Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
15	g.67164966G>A	CA325051	SMAD3	c.-38G>A (n.-38G>A) c.278G>A (p.Arg93Gln) c.146G>A (p.Arg49Gln) c.223G>A (p.Asp75Asn) n.128G>A c.131G>A (p.Arg44Gln)	ClinVar dbSNP COSMIC COSMIC
15	g.67164966G>C	CA392953904	SMAD3	c.-38G>C (n.-38G>C) c.278G>C (p.Arg93Pro) c.146G>C (p.Arg49Pro) c.223G>C (p.Asp75His) n.128G>C c.131G>C (p.Arg44Pro)
15	g.67164966G=	CA2184410338	SMAD3	c.-38G= (n.-38G=) c.278G= (p.Arg93=) c.146G= (p.Arg49=) c.223G= (p.Asp75=) n.128G= c.131G= (p.Arg44=)
15	g.67164966G>T	CA392953905	SMAD3	c.-38G>T (n.-38G>T) c.278G>T (p.Arg93Leu) c.146G>T (p.Arg49Leu) c.223G>T (p.Asp75Tyr) n.128G>T c.131G>T (p.Arg44Leu)	ClinVar dbSNP
15	g.67164967A>C	CA392953906	SMAD3	c.-37A>C (n.-37A>C) c.279A>C (p.Arg93=) c.147A>C (p.Arg49=) c.224A>C (p.Asp75Ala) n.129A>C c.132A>C (p.Arg44=)
15	g.67164967A>G	CA392953907	SMAD3	c.-37A>G (n.-37A>G) c.279A>G (p.Arg93=) c.147A>G (p.Arg49=) c.224A>G (p.Asp75Gly) n.129A>G c.132A>G (p.Arg44=)	gnomAD v4
15	g.67164967A>T	CA392953908	SMAD3	c.-37A>T (n.-37A>T) c.279A>T (p.Arg93=) c.147A>T (p.Arg49=) c.224A>T (p.Asp75Val) n.129A>T c.132A>T (p.Arg44=)
15	g.67164968T>A	CA392953909	SMAD3	c.-36T>A (n.-36T>A) c.280T>A (p.Trp94Arg) c.148T>A (p.Trp50Arg) c.225T>A (p.Asp75Glu) n.130T>A c.133T>A (p.Trp45Arg)
15	g.67164968T>C	CA392953910	SMAD3	c.-36T>C (n.-36T>C) c.280T>C (p.Trp94Arg) c.148T>C (p.Trp50Arg) c.225T>C (p.Asp75=) n.130T>C c.133T>C (p.Trp45Arg)
15	g.67164968T>G	CA392953911	SMAD3	c.-36T>G (n.-36T>G) c.280T>G (p.Trp94Gly) c.148T>G (p.Trp50Gly) c.225T>G (p.Asp75Glu) n.130T>G c.133T>G (p.Trp45Gly)	dbSNP
15	g.67164968T=	CA2184410339	SMAD3	c.-36T= (n.-36T=) c.280T= (p.Trp94=) c.148T= (p.Trp50=) c.225T= (p.Asp75=) n.130T= c.133T= (p.Trp45=)
15	g.67164969G>A	CA392953913	SMAD3	c.-35G>A (n.-35G>A) c.281G>A (p.Trp94Ter) c.149G>A (p.Trp50Ter) c.226G>A (p.Gly76Ser) n.131G>A c.134G>A (p.Trp45Ter)	ClinVar dbSNP COSMIC COSMIC
15	g.67164969G>C	CA392953912	SMAD3	c.-35G>C (n.-35G>C) c.281G>C (p.Trp94Ser) c.149G>C (p.Trp50Ser) c.226G>C (p.Gly76Arg) n.131G>C c.134G>C (p.Trp45Ser)
15	g.67164969G=	CA2184410340	SMAD3	c.-35G= (n.-35G=) c.281G= (p.Trp94=) c.149G= (p.Trp50=) c.226G= (p.Gly76=) n.131G= c.134G= (p.Trp45=)
15	g.67164969G>T	CA16043497	SMAD3	c.-35G>T (n.-35G>T) c.281G>T (p.Trp94Leu) c.149G>T (p.Trp50Leu) c.226G>T (p.Gly76Cys) n.131G>T c.134G>T (p.Trp45Leu)	ClinVar dbSNP gnomAD v4
15	g.67164969_67164982dup	CA715067682	SMAD3	c.-35_-22dup (n.-35_-22dup) c.281_294dup (p.Ser99GlyfsTer22) c.149_162dup (p.Ser55GlyfsTer22) c.226_239dup (p.Thr82ArgfsTer15) n.131_144dup c.134_147dup (p.Ser50GlyfsTer22)	dbSNP
15	g.67164970G>A	CA392953914	SMAD3	c.-34G>A (n.-34G>A) c.282G>A (p.Trp94Ter) c.150G>A (p.Trp50Ter) c.227G>A (p.Gly76Asp) n.132G>A c.135G>A (p.Trp45Ter)	dbSNP
15	g.67164970G>C	CA392953915	SMAD3	c.-34G>C (n.-34G>C) c.282G>C (p.Trp94Cys) c.150G>C (p.Trp50Cys) c.227G>C (p.Gly76Ala) n.132G>C c.135G>C (p.Trp45Cys)
15	g.67164970G>T	CA392953916	SMAD3	c.-34G>T (n.-34G>T) c.282G>T (p.Trp94Cys) c.150G>T (p.Trp50Cys) c.227G>T (p.Gly76Val) n.132G>T c.135G>T (p.Trp45Cys)
15	g.67164971C>A	CA392953917	SMAD3	c.-33C>A (n.-33C>A) c.283C>A (p.Pro95Thr) c.151C>A (p.Pro51Thr) c.228C>A (p.Gly76=) n.133C>A c.136C>A (p.Pro46Thr)	dbSNP
15	g.67164971C>G	CA392953918	SMAD3	c.-33C>G (n.-33C>G) c.283C>G (p.Pro95Ala) c.151C>G (p.Pro51Ala) c.228C>G (p.Gly76=) n.133C>G c.136C>G (p.Pro46Ala)
15	g.67164971C>T	CA392953919	SMAD3	c.-33C>T (n.-33C>T) c.283C>T (p.Pro95Ser) c.151C>T (p.Pro51Ser) c.228C>T (p.Gly76=) n.133C>T c.136C>T (p.Pro46Ser)
15	g.67164972C>A	CA392953920	SMAD3	c.-32C>A (n.-32C>A) c.284C>A (p.Pro95Gln) c.152C>A (p.Pro51Gln) c.229C>A (p.Gln77Lys) n.134C>A c.137C>A (p.Pro46Gln)
15	g.67164972C=	CA2184410341	SMAD3	c.-32C= (n.-32C=) c.284C= (p.Pro95=) c.152C= (p.Pro51=) c.229C= (p.Gln77=) n.134C= c.137C= (p.Pro46=)
15	g.67164972C>G	CA392953921	SMAD3	c.-32C>G (n.-32C>G) c.284C>G (p.Pro95Arg) c.152C>G (p.Pro51Arg) c.229C>G (p.Gln77Glu) n.134C>G c.137C>G (p.Pro46Arg)	ClinVar
15	g.67164972C>T	CA392953922	SMAD3	c.-32C>T (n.-32C>T) c.284C>T (p.Pro95Leu) c.152C>T (p.Pro51Leu) c.229C>T (p.Gln77Ter) n.134C>T c.137C>T (p.Pro46Leu)	ClinVar dbSNP
15	g.67164973A=	CA2184410342	SMAD3	c.-31A= (n.-31A=) c.285A= (p.Pro95=) c.153A= (p.Pro51=) c.230A= (p.Gln77=) n.135A= c.138A= (p.Pro46=)
15	g.67164973A>C	CA392953923	SMAD3	c.-31A>C (n.-31A>C) c.285A>C (p.Pro95=) c.153A>C (p.Pro51=) c.230A>C (p.Gln77Pro) n.135A>C c.138A>C (p.Pro46=)
15	g.67164973A>G	CA392953924	SMAD3	c.-31A>G (n.-31A>G) c.285A>G (p.Pro95=) c.153A>G (p.Pro51=) c.230A>G (p.Gln77Arg) n.135A>G c.138A>G (p.Pro46=)
15	g.67164973A>T	CA392953925	SMAD3	c.-31A>T (n.-31A>T) c.285A>T (p.Pro95=) c.153A>T (p.Pro51=) c.230A>T (p.Gln77Leu) n.135A>T c.138A>T (p.Pro46=)	dbSNP
15	g.67164974G>A	CA392953928	SMAD3	c.-30G>A (n.-30G>A) c.286G>A (p.Asp96Asn) c.154G>A (p.Asp52Asn) c.231G>A (p.Gln77=) n.136G>A c.139G>A (p.Asp47Asn)
15	g.67164974G>C	CA392953927	SMAD3	c.-30G>C (n.-30G>C) c.286G>C (p.Asp96His) c.154G>C (p.Asp52His) c.231G>C (p.Gln77His) n.136G>C c.139G>C (p.Asp47His)
15	g.67164974G>T	CA392953926	SMAD3	c.-30G>T (n.-30G>T) c.286G>T (p.Asp96Tyr) c.154G>T (p.Asp52Tyr) c.231G>T (p.Gln77His) n.136G>T c.139G>T (p.Asp47Tyr)
15	g.67164975A=	CA2184410343	SMAD3	c.-29A= (n.-29A=) c.287A= (p.Asp96=) c.155A= (p.Asp52=) c.232A= (p.Thr78=) n.137A= c.140A= (p.Asp47=)
15	g.67164975A>C	CA392953929	SMAD3	c.-29A>C (n.-29A>C) c.287A>C (p.Asp96Ala) c.155A>C (p.Asp52Ala) c.232A>C (p.Thr78Pro) n.137A>C c.140A>C (p.Asp47Ala)	dbSNP
15	g.67164975A>G	CA392953931	SMAD3	c.-29A>G (n.-29A>G) c.287A>G (p.Asp96Gly) c.155A>G (p.Asp52Gly) c.232A>G (p.Thr78Ala) n.137A>G c.140A>G (p.Asp47Gly)
15	g.67164975A>T	CA392953930	SMAD3	c.-29A>T (n.-29A>T) c.287A>T (p.Asp96Val) c.155A>T (p.Asp52Val) c.232A>T (p.Thr78Ser) n.137A>T c.140A>T (p.Asp47Val)	dbSNP gnomAD v4
15	g.67164976C>A	CA392953932	SMAD3	c.-28C>A (n.-28C>A) c.288C>A (p.Asp96Glu) c.156C>A (p.Asp52Glu) c.233C>A (p.Thr78Asn) n.138C>A c.141C>A (p.Asp47Glu)
15	g.67164976C>G	CA392953933	SMAD3	c.-28C>G (n.-28C>G) c.288C>G (p.Asp96Glu) c.156C>G (p.Asp52Glu) c.233C>G (p.Thr78Ser) n.138C>G c.141C>G (p.Asp47Glu)
15	g.67164976C>T	CA392953934	SMAD3	c.-28C>T (n.-28C>T) c.288C>T (p.Asp96=) c.156C>T (p.Asp52=) c.233C>T (p.Thr78Ile) n.138C>T c.141C>T (p.Asp47=)
15	g.67164977_67164980del	CA645572329	SMAD3	c.-27_-24del (n.-27_-24del) c.289_292del (p.Leu97ThrfsTer18) c.157_160del (p.Leu53ThrfsTer18) c.234_237del (p.Cys79GlnfsTer12) n.139_142del c.142_145del (p.Leu48ThrfsTer18)	COSMIC COSMIC
15	g.67164977C>A	CA392953935	SMAD3	c.-27C>A (n.-27C>A) c.289C>A (p.Leu97Met) c.157C>A (p.Leu53Met) c.234C>A (p.Thr78=) n.139C>A c.142C>A (p.Leu48Met)	COSMIC
15	g.67164977C>G	CA392953936	SMAD3	c.-27C>G (n.-27C>G) c.289C>G (p.Leu97Val) c.157C>G (p.Leu53Val) c.234C>G (p.Thr78=) n.139C>G c.142C>G (p.Leu48Val)
15	g.67164977C>T	CA491071603	SMAD3	c.-27C>T (n.-27C>T) c.289C>T (p.Leu97=) c.157C>T (p.Leu53=) c.234C>T (p.Thr78=) n.139C>T c.142C>T (p.Leu48=)
15	g.67164978T>A	CA392953937	SMAD3	c.-26T>A (n.-26T>A) c.290T>A (p.Leu97Gln) c.158T>A (p.Leu53Gln) c.235T>A (p.Cys79Ser) n.140T>A c.143T>A (p.Leu48Gln)
15	g.67164978T>C	CA392953938	SMAD3	c.-26T>C (n.-26T>C) c.290T>C (p.Leu97Pro) c.158T>C (p.Leu53Pro) c.235T>C (p.Cys79Arg) n.140T>C c.143T>C (p.Leu48Pro)	ClinVar dbSNP
15	g.67164978T>G	CA392953939	SMAD3	c.-26T>G (n.-26T>G) c.290T>G (p.Leu97Arg) c.158T>G (p.Leu53Arg) c.235T>G (p.Cys79Gly) n.140T>G c.143T>G (p.Leu48Arg)	dbSNP
15	g.67164978T=	CA2184410344	SMAD3	c.-26T= (n.-26T=) c.290T= (p.Leu97=) c.158T= (p.Leu53=) c.235T= (p.Cys79=) n.140T= c.143T= (p.Leu48=)
15	g.67164979G>A	CA392953940	SMAD3	c.-25G>A (n.-25G>A) c.291G>A (p.Leu97=) c.159G>A (p.Leu53=) c.236G>A (p.Cys79Tyr) n.141G>A c.144G>A (p.Leu48=)	dbSNP gnomAD v2 gnomAD v4
15	g.67164979G>C	CA392953941	SMAD3	c.-25G>C (n.-25G>C) c.291G>C (p.Leu97=) c.159G>C (p.Leu53=) c.236G>C (p.Cys79Ser) n.141G>C c.144G>C (p.Leu48=)
15	g.67164979G=	CA2184410345	SMAD3	c.-25G= (n.-25G=) c.291G= (p.Leu97=) c.159G= (p.Leu53=) c.236G= (p.Cys79=) n.141G= c.144G= (p.Leu48=)
15	g.67164979G>T	CA392953942	SMAD3	c.-25G>T (n.-25G>T) c.291G>T (p.Leu97=) c.159G>T (p.Leu53=) c.236G>T (p.Cys79Phe) n.141G>T c.144G>T (p.Leu48=)
15	g.67164980C>A	CA392953945	SMAD3	c.-24C>A (n.-24C>A) c.292C>A (p.His98Asn) c.160C>A (p.His54Asn) c.237C>A (p.Cys79Ter) n.142C>A c.145C>A (p.His49Asn)	dbSNP
15	g.67164980C=	CA2184410346	SMAD3	c.-24C= (n.-24C=) c.292C= (p.His98=) c.160C= (p.His54=) c.237C= (p.Cys79=) n.142C= c.145C= (p.His49=)
15	g.67164980C>G	CA392953944	SMAD3	c.-24C>G (n.-24C>G) c.292C>G (p.His98Asp) c.160C>G (p.His54Asp) c.237C>G (p.Cys79Trp) n.142C>G c.145C>G (p.His49Asp)
15	g.67164980C>T	CA392953943	SMAD3	c.-24C>T (n.-24C>T) c.292C>T (p.His98Tyr) c.160C>T (p.His54Tyr) c.237C>T (p.Cys79=) n.142C>T c.145C>T (p.His49Tyr)	ClinVar dbSNP
15	g.67164981A=	CA2184410347	SMAD3	c.-23A= (n.-23A=) c.293A= (p.His98=) c.161A= (p.His54=) c.238A= (p.Thr80=) n.143A= c.146A= (p.His49=)
15	g.67164981A>C	CA392953946	SMAD3	c.-23A>C (n.-23A>C) c.293A>C (p.His98Pro) c.161A>C (p.His54Pro) c.238A>C (p.Thr80Pro) n.143A>C c.146A>C (p.His49Pro)	dbSNP
15	g.67164981A>G	CA392953947	SMAD3	c.-23A>G (n.-23A>G) c.293A>G (p.His98Arg) c.161A>G (p.His54Arg) c.238A>G (p.Thr80Ala) n.143A>G c.146A>G (p.His49Arg)	gnomAD v4
15	g.67164981A>T	CA392953948	SMAD3	c.-23A>T (n.-23A>T) c.293A>T (p.His98Leu) c.161A>T (p.His54Leu) c.238A>T (p.Thr80Ser) n.143A>T c.146A>T (p.His49Leu)
15	g.67164982C>A	CA392953949	SMAD3	c.-22C>A (n.-22C>A) c.294C>A (p.His98Gln) c.162C>A (p.His54Gln) c.239C>A (p.Thr80Lys) n.144C>A c.147C>A (p.His49Gln)
15	g.67164982C=	CA2184410348	SMAD3	c.-22C= (n.-22C=) c.294C= (p.His98=) c.162C= (p.His54=) c.239C= (p.Thr80=) n.144C= c.147C= (p.His49=)
15	g.67164982C>G	CA392953950	SMAD3	c.-22C>G (n.-22C>G) c.294C>G (p.His98Gln) c.162C>G (p.His54Gln) c.239C>G (p.Thr80Arg) n.144C>G c.147C>G (p.His49Gln)
15	g.67164982C>T	CA062099	SMAD3	c.-22C>T (n.-22C>T) c.294C>T (p.His98=) c.162C>T (p.His54=) c.239C>T (p.Thr80Ile) n.144C>T c.147C>T (p.His49=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15	g.67164983A>C	CA392953951	SMAD3	c.-21A>C (n.-21A>C) c.295A>C (p.Ser99Arg) c.163A>C (p.Ser55Arg) c.240A>C (p.Thr80=) n.145A>C c.148A>C (p.Ser50Arg)
15	g.67164983A>G	CA392953952	SMAD3	c.-21A>G (n.-21A>G) c.295A>G (p.Ser99Gly) c.163A>G (p.Ser55Gly) c.240A>G (p.Thr80=) n.145A>G c.148A>G (p.Ser50Gly)	ClinVar
15	g.67164983A>T	CA392953953	SMAD3	c.-21A>T (n.-21A>T) c.295A>T (p.Ser99Cys) c.163A>T (p.Ser55Cys) c.240A>T (p.Thr80=) n.145A>T c.148A>T (p.Ser50Cys)
15	g.67164984G>A	CA392953954	SMAD3	c.-20G>A (n.-20G>A) c.296G>A (p.Ser99Asn) c.164G>A (p.Ser55Asn) c.241G>A (p.Ala81Thr) n.146G>A c.149G>A (p.Ser50Asn)	dbSNP
15	g.67164984G>C	CA392953955	SMAD3	c.-20G>C (n.-20G>C) c.296G>C (p.Ser99Thr) c.164G>C (p.Ser55Thr) c.241G>C (p.Ala81Pro) n.146G>C c.149G>C (p.Ser50Thr)	dbSNP
15	g.67164984G=	CA2184410349	SMAD3	c.-20G= (n.-20G=) c.296G= (p.Ser99=) c.164G= (p.Ser55=) c.241G= (p.Ala81=) n.146G= c.149G= (p.Ser50=)
15	g.67164984G>T	CA392953956	SMAD3	c.-20G>T (n.-20G>T) c.296G>T (p.Ser99Ile) c.164G>T (p.Ser55Ile) c.241G>T (p.Ala81Ser) n.146G>T c.149G>T (p.Ser50Ile)
15	g.67164985C>A	CA392953957	SMAD3	c.-19C>A (n.-19C>A) c.297C>A (p.Ser99Arg) c.165C>A (p.Ser55Arg) c.242C>A (p.Ala81Asp) n.147C>A c.150C>A (p.Ser50Arg)
15	g.67164985C>G	CA392953959	SMAD3	c.-19C>G (n.-19C>G) c.297C>G (p.Ser99Arg) c.165C>G (p.Ser55Arg) c.242C>G (p.Ala81Gly) n.147C>G c.150C>G (p.Ser50Arg)
15	g.67164985C>T	CA392953958	SMAD3	c.-19C>T (n.-19C>T) c.297C>T (p.Ser99=) c.165C>T (p.Ser55=) c.242C>T (p.Ala81Val) n.147C>T c.150C>T (p.Ser50=)	dbSNP
15	g.67164989_67164991del	CA2697549140	SMAD3	c.-15_-13del (n.-15_-13del) c.301_303del (p.His101del) c.169_171del (p.His57del) c.246_248del (p.Thr83del) n.151_153del c.154_156del (p.His52del)	ClinVar
15	g.67164986C>A	CA392953960	SMAD3	c.-18C>A (n.-18C>A) c.298C>A (p.His100Asn) c.166C>A (p.His56Asn) c.243C>A (p.Ala81=) n.148C>A c.151C>A (p.His51Asn)
15	g.67164986C>G	CA392953962	SMAD3	c.-18C>G (n.-18C>G) c.298C>G (p.His100Asp) c.166C>G (p.His56Asp) c.243C>G (p.Ala81=) n.148C>G c.151C>G (p.His51Asp)
15	g.67164986C>T	CA392953961	SMAD3	c.-18C>T (n.-18C>T) c.298C>T (p.His100Tyr) c.166C>T (p.His56Tyr) c.243C>T (p.Ala81=) n.148C>T c.151C>T (p.His51Tyr)	gnomAD v4
15	g.67164987A=	CA2184410350	SMAD3	c.-17A= (n.-17A=) c.299A= (p.His100=) c.167A= (p.His56=) c.244A= (p.Thr82=) n.149A= c.152A= (p.His51=)
15	g.67164987A>C	CA392953963	SMAD3	c.-17A>C (n.-17A>C) c.299A>C (p.His100Pro) c.167A>C (p.His56Pro) c.244A>C (p.Thr82Pro) n.149A>C c.152A>C (p.His51Pro)
15	g.67164987A>G	CA392953965	SMAD3	c.-17A>G (n.-17A>G) c.299A>G (p.His100Arg) c.167A>G (p.His56Arg) c.244A>G (p.Thr82Ala) n.149A>G c.152A>G (p.His51Arg)	dbSNP gnomAD v4
15	g.67164987A>T	CA392953964	SMAD3	c.-17A>T (n.-17A>T) c.299A>T (p.His100Leu) c.167A>T (p.His56Leu) c.244A>T (p.Thr82Ser) n.149A>T c.152A>T (p.His51Leu)
15	g.67164988C>A	CA392953966	SMAD3	c.-16C>A (n.-16C>A) c.300C>A (p.His100Gln) c.168C>A (p.His56Gln) c.245C>A (p.Thr82Asn) n.150C>A c.153C>A (p.His51Gln)
15	g.67164988C>G	CA392953967	SMAD3	c.-16C>G (n.-16C>G) c.300C>G (p.His100Gln) c.168C>G (p.His56Gln) c.245C>G (p.Thr82Ser) n.150C>G c.153C>G (p.His51Gln)
15	g.67164988C>T	CA392953968	SMAD3	c.-16C>T (n.-16C>T) c.300C>T (p.His100=) c.168C>T (p.His56=) c.245C>T (p.Thr82Ile) n.150C>T c.153C>T (p.His51=)	gnomAD v4
15	g.67164988_67164989insAGGGCCGGCAGGC	CA658820888	SMAD3	c.-16_-15insAGGGCCGGCAGGC (n.-16_-15insAGGGCCGGCAGGC) c.300_301insAGGGCCGGCAGGC (p.His101ArgfsTer14) c.168_169insAGGGCCGGCAGGC (p.His57ArgfsTer14) c.245_246insAGGGCCGGCAGGC (p.Thr83GlyfsTer?) n.150_151insAGGGCCGGCAGGC c.153_154insAGGGCCGGCAGGC (p.His52ArgfsTer14)
15	g.67164989C>A	CA392953969	SMAD3	c.-15C>A (n.-15C>A) c.301C>A (p.His101Asn) c.169C>A (p.His57Asn) c.246C>A (p.Thr82=) n.151C>A c.154C>A (p.His52Asn)	dbSNP
15	g.67164989C=	CA2184410351	SMAD3	c.-15C= (n.-15C=) c.301C= (p.His101=) c.169C= (p.His57=) c.246C= (p.Thr82=) n.151C= c.154C= (p.His52=)
15	g.67164989C>G	CA392953970	SMAD3	c.-15C>G (n.-15C>G) c.301C>G (p.His101Asp) c.169C>G (p.His57Asp) c.246C>G (p.Thr82=) n.151C>G c.154C>G (p.His52Asp)
15	g.67164989C>T	CA392953971	SMAD3	c.-15C>T (n.-15C>T) c.301C>T (p.His101Tyr) c.169C>T (p.His57Tyr) c.246C>T (p.Thr82=) n.151C>T c.154C>T (p.His52Tyr)
15	g.67164990A>C	CA392953974	SMAD3	c.-14A>C (n.-14A>C) c.302A>C (p.His101Pro) c.170A>C (p.His57Pro) c.247A>C (p.Thr83Pro) n.152A>C c.155A>C (p.His52Pro)
15	g.67164990A>G	CA392953973	SMAD3	c.-14A>G (n.-14A>G) c.302A>G (p.His101Arg) c.170A>G (p.His57Arg) c.247A>G (p.Thr83Ala) n.152A>G c.155A>G (p.His52Arg)	gnomAD v4
15	g.67164990A>T	CA392953972	SMAD3	c.-14A>T (n.-14A>T) c.302A>T (p.His101Leu) c.170A>T (p.His57Leu) c.247A>T (p.Thr83Ser) n.152A>T c.155A>T (p.His52Leu)	dbSNP
15	g.67164991C>A	CA392953975	SMAD3	c.-13C>A (n.-13C>A) c.303C>A (p.His101Gln) c.171C>A (p.His57Gln) c.248C>A (p.Thr83Lys) n.153C>A c.156C>A (p.His52Gln)
15	g.67164991C=	CA2184410352	SMAD3	c.-13C= (n.-13C=) c.303C= (p.His101=) c.171C= (p.His57=) c.248C= (p.Thr83=) n.153C= c.156C= (p.His52=)
15	g.67164991C>G	CA392953976	SMAD3	c.-13C>G (n.-13C>G) c.303C>G (p.His101Gln) c.171C>G (p.His57Gln) c.248C>G (p.Thr83Arg) n.153C>G c.156C>G (p.His52Gln)	ClinVar
15	g.67164991C>T	CA272378584	SMAD3	c.-13C>T (n.-13C>T) c.303C>T (p.His101=) c.171C>T (p.His57=) c.248C>T (p.Thr83Met) n.153C>T c.156C>T (p.His52=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15	g.67164991_67164992insTC	CA2825002293	SMAD3	c.-13_-12insTC (n.-13_-12insTC) c.303_304insTC (p.Glu102SerfsTer15) c.171_172insTC (p.Glu58SerfsTer15) c.248_249insTC (p.Ser84ArgfsTer9) n.153_154insTC c.156_157insTC (p.Glu53SerfsTer15)	ClinVar
15	g.67164992G>A	CA392953977	SMAD3	c.-12G>A (n.-12G>A) c.304G>A (p.Glu102Lys) c.172G>A (p.Glu58Lys) c.249G>A (p.Thr83=) n.154G>A c.157G>A (p.Glu53Lys)	ClinVar dbSNP gnomAD v4
15	g.67164992G>C	CA392953978	SMAD3	c.-12G>C (n.-12G>C) c.304G>C (p.Glu102Gln) c.172G>C (p.Glu58Gln) c.249G>C (p.Thr83=) n.154G>C c.157G>C (p.Glu53Gln)
15	g.67164992G=	CA2184410353	SMAD3	c.-12G= (n.-12G=) c.304G= (p.Glu102=) c.172G= (p.Glu58=) c.249G= (p.Thr83=) n.154G= c.157G= (p.Glu53=)
15	g.67164992G>T	CA392953979	SMAD3	c.-12G>T (n.-12G>T) c.304G>T (p.Glu102Ter) c.172G>T (p.Glu58Ter) c.249G>T (p.Thr83=) n.154G>T c.157G>T (p.Glu53Ter)	ClinVar dbSNP
15	g.67164993A=	CA2184410354	SMAD3	c.-11A= (n.-11A=) c.305A= (p.Glu102=) c.173A= (p.Glu58=) c.250A= (p.Ser84=) n.155A= c.158A= (p.Glu53=)
15	g.67164993A>C	CA392953980	SMAD3	c.-11A>C (n.-11A>C) c.305A>C (p.Glu102Ala) c.173A>C (p.Glu58Ala) c.250A>C (p.Ser84Arg) n.155A>C c.158A>C (p.Glu53Ala)
15	g.67164993A>G	CA392953982	SMAD3	c.-11A>G (n.-11A>G) c.305A>G (p.Glu102Gly) c.173A>G (p.Glu58Gly) c.250A>G (p.Ser84Gly) n.155A>G c.158A>G (p.Glu53Gly)
15	g.67164993A>T	CA392953981	SMAD3	c.-11A>T (n.-11A>T) c.305A>T (p.Glu102Val) c.173A>T (p.Glu58Val) c.250A>T (p.Ser84Cys) n.155A>T c.158A>T (p.Glu53Val)
15	g.67164994G>A	CA392953983	SMAD3	c.-10G>A (n.-10G>A) c.306G>A (p.Glu102=) c.174G>A (p.Glu58=) c.251G>A (p.Ser84Asn) n.156G>A c.159G>A (p.Glu53=)	ClinVar dbSNP gnomAD v2 gnomAD v4
15	g.67164994G>C	CA392953984	SMAD3	c.-10G>C (n.-10G>C) c.306G>C (p.Glu102Asp) c.174G>C (p.Glu58Asp) c.251G>C (p.Ser84Thr) n.156G>C c.159G>C (p.Glu53Asp)
15	g.67164994G=	CA2184410355	SMAD3	c.-10G= (n.-10G=) c.306G= (p.Glu102=) c.174G= (p.Glu58=) c.251G= (p.Ser84=) n.156G= c.159G= (p.Glu53=)
15	g.67164994G>T	CA392953985	SMAD3	c.-10G>T (n.-10G>T) c.306G>T (p.Glu102Asp) c.174G>T (p.Glu58Asp) c.251G>T (p.Ser84Ile) n.156G>T c.159G>T (p.Glu53Asp)
15	g.67164994_67164996dup	CA1139664043	SMAD3	c.-10_-8dup (n.-10_-8dup) c.306_308dup (p.Leu103_Arg104insLeu) c.174_176dup (p.Leu59_Arg60insLeu) c.251_253dup (p.Ser84_Tyr85insCys) n.156_158dup c.159_161dup (p.Leu54_Arg55insLeu)	ClinVar dbSNP
15	g.67164995C>A	CA392953986	SMAD3	c.-9C>A (n.-9C>A) c.307C>A (p.Leu103Ile) c.175C>A (p.Leu59Ile) c.252C>A (p.Ser84Arg) n.157C>A c.160C>A (p.Leu54Ile)
15	g.67164995C>G	CA392953987	SMAD3	c.-9C>G (n.-9C>G) c.307C>G (p.Leu103Val) c.175C>G (p.Leu59Val) c.252C>G (p.Ser84Arg) n.157C>G c.160C>G (p.Leu54Val)
15	g.67164995C>T	CA491071605	SMAD3	c.-9C>T (n.-9C>T) c.307C>T (p.Leu103=) c.175C>T (p.Leu59=) c.252C>T (p.Ser84=) n.157C>T c.160C>T (p.Leu54=)
15	g.67164996T>A	CA392953988	SMAD3	c.-8T>A (n.-8T>A) c.308T>A (p.Leu103Gln) c.176T>A (p.Leu59Gln) c.253T>A (p.Tyr85Asn) n.158T>A c.161T>A (p.Leu54Gln)
15	g.67164996T>C	CA392953989	SMAD3	c.-8T>C (n.-8T>C) c.308T>C (p.Leu103Pro) c.176T>C (p.Leu59Pro) c.253T>C (p.Tyr85His) n.158T>C c.161T>C (p.Leu54Pro)
15	g.67164996T>G	CA392953990	SMAD3	c.-8T>G (n.-8T>G) c.308T>G (p.Leu103Arg) c.176T>G (p.Leu59Arg) c.253T>G (p.Tyr85Asp) n.158T>G c.161T>G (p.Leu54Arg)
15	g.67164996_67164997delinsCG	CA2573151067	SMAD3	c.-8_-7delinsCG (n.-8_-7delinsCG) c.308_309delinsCG (p.Leu103Pro) c.176_177delinsCG (p.Leu59Pro) c.253_254delinsCG (p.Tyr85Arg) n.158_159delinsCG c.161_162delinsCG (p.Leu54Pro)	ClinVar dbSNP
15	g.67164997A=	CA2184410356	SMAD3	c.-7A= (n.-7A=) c.309A= (p.Leu103=) c.177A= (p.Leu59=) c.254A= (p.Tyr85=) n.159A= c.162A= (p.Leu54=)
15	g.67164997A>C	CA392953991	SMAD3	c.-7A>C (n.-7A>C) c.309A>C (p.Leu103=) c.177A>C (p.Leu59=) c.254A>C (p.Tyr85Ser) n.159A>C c.162A>C (p.Leu54=)	dbSNP
15	g.67164997A>G	CA019603	SMAD3	c.-7A>G (n.-7A>G) c.309A>G (p.Leu103=) c.177A>G (p.Leu59=) c.254A>G (p.Tyr85Cys) n.159A>G c.162A>G (p.Leu54=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15	g.67164997A>T	CA16614882	SMAD3	c.-7A>T (n.-7A>T) c.309A>T (p.Leu103=) c.177A>T (p.Leu59=) c.254A>T (p.Tyr85Phe) n.159A>T c.162A>T (p.Leu54=)	ClinVar dbSNP gnomAD v4
15	g.67164997_67164998delinsGT	CA1139664044	SMAD3	c.-7_-6delinsGT (n.-7_-6delinsGT) c.309_310delinsGT (p.Arg104Trp) c.177_178delinsGT (p.Arg60Trp) c.254_255delinsGT (p.Tyr85Cys) n.159_160delinsGT c.162_163delinsGT (p.Arg55Trp)	ClinVar
15	g.67164997_67164999delinsGCA	CA2573054095	SMAD3	c.-7_-5delinsGCA (n.-7_-5delinsGCA) c.309_311delinsGCA (p.Arg104Gln) c.177_179delinsGCA (p.Arg60Gln) c.254_256delinsGCA (p.Tyr85_Gly86delinsCysArg) n.159_161delinsGCA c.162_164delinsGCA (p.Arg55Gln)	ClinVar dbSNP

Number of alleles fetched