Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.67184746C>ACA392956725SMAD3c.306C>A (p.Tyr102Ter)
c.576C>A (p.Tyr192Ter)
c.891C>A (p.Tyr297Ter)
n.594C>A
c.759C>A (p.Tyr253Ter)
c.557-2619C>A (n.557-2619C>A)
n.283-8127C>A
c.744C>A (p.Tyr248Ter)
15g.67184746C>GCA392956728SMAD3c.306C>G (p.Tyr102Ter)
c.576C>G (p.Tyr192Ter)
c.891C>G (p.Tyr297Ter)
n.594C>G
c.759C>G (p.Tyr253Ter)
c.557-2619C>G (n.557-2619C>G)
n.283-8127C>G
c.744C>G (p.Tyr248Ter)
 ClinVar
15g.67184746C>TCA490916449SMAD3c.306C>T (p.Tyr102=)
c.576C>T (p.Tyr192=)
c.891C>T (p.Tyr297=)
n.594C>T
c.759C>T (p.Tyr253=)
c.557-2619C>T (n.557-2619C>T)
n.283-8127C>T
c.744C>T (p.Tyr248=)
 dbSNP
15g.67184747T>ACA392956733SMAD3c.307T>A (p.Tyr103Asn)
c.577T>A (p.Tyr193Asn)
c.892T>A (p.Tyr298Asn)
n.595T>A
c.760T>A (p.Tyr254Asn)
c.557-2618T>A (n.557-2618T>A)
n.283-8126T>A
c.745T>A (p.Tyr249Asn)
15g.67184747T>CCA392956736SMAD3c.307T>C (p.Tyr103His)
c.577T>C (p.Tyr193His)
c.892T>C (p.Tyr298His)
n.595T>C
c.760T>C (p.Tyr254His)
c.557-2618T>C (n.557-2618T>C)
n.283-8126T>C
c.745T>C (p.Tyr249His)
15g.67184747T>GCA392956731SMAD3c.307T>G (p.Tyr103Asp)
c.577T>G (p.Tyr193Asp)
c.892T>G (p.Tyr298Asp)
n.595T>G
c.760T>G (p.Tyr254Asp)
c.557-2618T>G (n.557-2618T>G)
n.283-8126T>G
c.745T>G (p.Tyr249Asp)
15g.67184748A>CCA392956739SMAD3c.308A>C (p.Tyr103Ser)
c.578A>C (p.Tyr193Ser)
c.893A>C (p.Tyr298Ser)
n.596A>C
c.761A>C (p.Tyr254Ser)
c.557-2617A>C (n.557-2617A>C)
n.283-8125A>C
c.746A>C (p.Tyr249Ser)
15g.67184748A>GCA392956742SMAD3c.308A>G (p.Tyr103Cys)
c.578A>G (p.Tyr193Cys)
c.893A>G (p.Tyr298Cys)
n.596A>G
c.761A>G (p.Tyr254Cys)
c.557-2617A>G (n.557-2617A>G)
n.283-8125A>G
c.746A>G (p.Tyr249Cys)
15g.67184748A>TCA392956744SMAD3c.308A>T (p.Tyr103Phe)
c.578A>T (p.Tyr193Phe)
c.893A>T (p.Tyr298Phe)
n.596A>T
c.761A>T (p.Tyr254Phe)
c.557-2617A>T (n.557-2617A>T)
n.283-8125A>T
c.746A>T (p.Tyr249Phe)
15g.67184749C>ACA392956746SMAD3c.309C>A (p.Tyr103Ter)
c.579C>A (p.Tyr193Ter)
c.894C>A (p.Tyr298Ter)
n.597C>A
c.762C>A (p.Tyr254Ter)
c.557-2616C>A (n.557-2616C>A)
n.283-8124C>A
c.747C>A (p.Tyr249Ter)
15g.67184749C>GCA392956749SMAD3c.309C>G (p.Tyr103Ter)
c.579C>G (p.Tyr193Ter)
c.894C>G (p.Tyr298Ter)
n.597C>G
c.762C>G (p.Tyr254Ter)
c.557-2616C>G (n.557-2616C>G)
n.283-8124C>G
c.747C>G (p.Tyr249Ter)
15g.67184749C>TCA490916453SMAD3c.309C>T (p.Tyr103=)
c.579C>T (p.Tyr193=)
c.894C>T (p.Tyr298=)
n.597C>T
c.762C>T (p.Tyr254=)
c.557-2616C>T (n.557-2616C>T)
n.283-8124C>T
c.747C>T (p.Tyr249=)
 gnomAD v4
15g.67184750A>CCA392956752SMAD3c.310A>C (p.Ile104Leu)
c.580A>C (p.Ile194Leu)
c.895A>C (p.Ile299Leu)
n.598A>C
c.763A>C (p.Ile255Leu)
c.557-2615A>C (n.557-2615A>C)
n.283-8123A>C
c.748A>C (p.Ile250Leu)
15g.67184750A>GCA392956755SMAD3c.310A>G (p.Ile104Val)
c.580A>G (p.Ile194Val)
c.895A>G (p.Ile299Val)
n.598A>G
c.763A>G (p.Ile255Val)
c.557-2615A>G (n.557-2615A>G)
n.283-8123A>G
c.748A>G (p.Ile250Val)
 gnomAD v4
15g.67184750A>TCA392956757SMAD3c.310A>T (p.Ile104Phe)
c.580A>T (p.Ile194Phe)
c.895A>T (p.Ile299Phe)
n.598A>T
c.763A>T (p.Ile255Phe)
c.557-2615A>T (n.557-2615A>T)
n.283-8123A>T
c.748A>T (p.Ile250Phe)
15g.67184751T>ACA392956760SMAD3c.311T>A (p.Ile104Asn)
c.581T>A (p.Ile194Asn)
c.896T>A (p.Ile299Asn)
n.599T>A
c.764T>A (p.Ile255Asn)
c.557-2614T>A (n.557-2614T>A)
n.283-8122T>A
c.749T>A (p.Ile250Asn)
15g.67184751T>CCA392956763SMAD3c.311T>C (p.Ile104Thr)
c.581T>C (p.Ile194Thr)
c.896T>C (p.Ile299Thr)
n.599T>C
c.764T>C (p.Ile255Thr)
c.557-2614T>C (n.557-2614T>C)
n.283-8122T>C
c.749T>C (p.Ile250Thr)
15g.67184751T>GCA392956765SMAD3c.311T>G (p.Ile104Ser)
c.581T>G (p.Ile194Ser)
c.896T>G (p.Ile299Ser)
n.599T>G
c.764T>G (p.Ile255Ser)
c.557-2614T>G (n.557-2614T>G)
n.283-8122T>G
c.749T>G (p.Ile250Ser)
15g.67184752C>ACA490916454SMAD3c.312C>A (p.Ile104=)
c.582C>A (p.Ile194=)
c.897C>A (p.Ile299=)
n.600C>A
c.765C>A (p.Ile255=)
c.557-2613C>A (n.557-2613C>A)
n.283-8121C>A
c.750C>A (p.Ile250=)
15g.67184752C=CA2184419186SMAD3c.312C= (p.Ile104=)
c.582C= (p.Ile194=)
c.897C= (p.Ile299=)
n.600C=
c.765C= (p.Ile255=)
c.557-2613C= (n.557-2613C=)
n.283-8121C=
c.750C= (p.Ile250=)
15g.67184752C>GCA392956768SMAD3c.312C>G (p.Ile104Met)
c.582C>G (p.Ile194Met)
c.897C>G (p.Ile299Met)
n.600C>G
c.765C>G (p.Ile255Met)
c.557-2613C>G (n.557-2613C>G)
n.283-8121C>G
c.750C>G (p.Ile250Met)
15g.67184752C>TCA062835SMAD3c.312C>T (p.Ile104=)
c.582C>T (p.Ile194=)
c.897C>T (p.Ile299=)
n.600C>T
c.765C>T (p.Ile255=)
c.557-2613C>T (n.557-2613C>T)
n.283-8121C>T
c.750C>T (p.Ile250=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
15g.67184753G>ACA392956776SMAD3c.313G>A (p.Gly105Arg)
c.583G>A (p.Gly195Arg)
c.898G>A (p.Gly300Arg)
n.601G>A
c.766G>A (p.Gly256Arg)
c.557-2612G>A (n.557-2612G>A)
n.283-8120G>A
c.751G>A (p.Gly251Arg)
 dbSNP gnomAD v4
15g.67184753G>CCA392956773SMAD3c.313G>C (p.Gly105Arg)
c.583G>C (p.Gly195Arg)
c.898G>C (p.Gly300Arg)
n.601G>C
c.766G>C (p.Gly256Arg)
c.557-2612G>C (n.557-2612G>C)
n.283-8120G>C
c.751G>C (p.Gly251Arg)
15g.67184753G=CA2184419191SMAD3c.313G= (p.Gly105=)
c.583G= (p.Gly195=)
c.898G= (p.Gly300=)
n.601G=
c.766G= (p.Gly256=)
c.557-2612G= (n.557-2612G=)
n.283-8120G=
c.751G= (p.Gly251=)
15g.67184753G>TCA392956771SMAD3c.313G>T (p.Gly105Ter)
c.583G>T (p.Gly195Ter)
c.898G>T (p.Gly300Ter)
n.601G>T
c.766G>T (p.Gly256Ter)
c.557-2612G>T (n.557-2612G>T)
n.283-8120G>T
c.751G>T (p.Gly251Ter)
15g.67184754G>ACA392956777SMAD3c.314G>A (p.Gly105Glu)
c.584G>A (p.Gly195Glu)
c.899G>A (p.Gly300Glu)
n.602G>A
c.767G>A (p.Gly256Glu)
c.557-2611G>A (n.557-2611G>A)
n.283-8119G>A
c.752G>A (p.Gly251Glu)
 dbSNP
15g.67184754G>CCA392956778SMAD3c.314G>C (p.Gly105Ala)
c.584G>C (p.Gly195Ala)
c.899G>C (p.Gly300Ala)
n.602G>C
c.767G>C (p.Gly256Ala)
c.557-2611G>C (n.557-2611G>C)
n.283-8119G>C
c.752G>C (p.Gly251Ala)
15g.67184754G>TCA392956780SMAD3c.314G>T (p.Gly105Val)
c.584G>T (p.Gly195Val)
c.899G>T (p.Gly300Val)
n.602G>T
c.767G>T (p.Gly256Val)
c.557-2611G>T (n.557-2611G>T)
n.283-8119G>T
c.752G>T (p.Gly251Val)
15g.67184755A>CCA490916455SMAD3c.315A>C (p.Gly105=)
c.585A>C (p.Gly195=)
c.900A>C (p.Gly300=)
n.603A>C
c.768A>C (p.Gly256=)
c.557-2610A>C (n.557-2610A>C)
n.283-8118A>C
c.753A>C (p.Gly251=)
15g.67184755A>GCA490916456SMAD3c.315A>G (p.Gly105=)
c.585A>G (p.Gly195=)
c.900A>G (p.Gly300=)
n.603A>G
c.768A>G (p.Gly256=)
c.557-2610A>G (n.557-2610A>G)
n.283-8118A>G
c.753A>G (p.Gly251=)
15g.67184755A>TCA490916457SMAD3c.315A>T (p.Gly105=)
c.585A>T (p.Gly195=)
c.900A>T (p.Gly300=)
n.603A>T
c.768A>T (p.Gly256=)
c.557-2610A>T (n.557-2610A>T)
n.283-8118A>T
c.753A>T (p.Gly251=)
15g.67184755_67184756delinsAGCA2184419193SMAD3c.315_316delinsAG (p.Gly105=)
c.585_586delinsAG (p.Gly195=)
c.900_901delinsAG (p.Gly300=)
n.603_604delinsAG
c.768_769delinsAG (p.Gly256=)
c.557-2610_557-2609delinsAG (n.557-2610_557-2609delinsAG)
n.283-8118_283-8117delinsAG
c.753_754delinsAG (p.Gly251=)
15g.67184756G>ACA392956782SMAD3c.316G>A (p.Gly106Arg)
c.586G>A (p.Gly196Arg)
c.901G>A (p.Gly301Arg)
n.604G>A
c.769G>A (p.Gly257Arg)
c.557-2609G>A (n.557-2609G>A)
n.283-8117G>A
c.754G>A (p.Gly252Arg)
 dbSNP
15g.67184756G>CCA392956783SMAD3c.316G>C (p.Gly106Arg)
c.586G>C (p.Gly196Arg)
c.901G>C (p.Gly301Arg)
n.604G>C
c.769G>C (p.Gly257Arg)
c.557-2609G>C (n.557-2609G>C)
n.283-8117G>C
c.754G>C (p.Gly252Arg)
15g.67184756G>TCA392956786SMAD3c.316G>T (p.Gly106Trp)
c.586G>T (p.Gly196Trp)
c.901G>T (p.Gly301Trp)
n.604G>T
c.769G>T (p.Gly257Trp)
c.557-2609G>T (n.557-2609G>T)
n.283-8117G>T
c.754G>T (p.Gly252Trp)
 dbSNP
15g.67184758_67184759dupCA16614551SMAD3c.318_319dup (p.Glu107GlyfsTer?)
c.588_589dup (p.Glu197GlyfsTer?)
c.903_904dup (p.Glu302GlyfsTer?)
n.606_607dup
c.771_772dup (p.Glu258GlyfsTer?)
c.557-2607_557-2606dup (n.557-2607_557-2606dup)
n.283-8115_283-8114dup
c.756_757dup (p.Glu253GlyfsTer?)
 ClinVar dbSNP
15g.67184759delCA915946046SMAD3c.319del (p.Glu107ArgfsTer?)
c.589del (p.Glu197ArgfsTer?)
c.904del (p.Glu302ArgfsTer?)
n.607del
c.772del (p.Glu258ArgfsTer?)
c.557-2606del (n.557-2606del)
n.283-8114del
c.757del (p.Glu253ArgfsTer?)
 ClinVar dbSNP
15g.67184757G>ACA392956788SMAD3c.317G>A (p.Gly106Glu)
c.587G>A (p.Gly196Glu)
c.902G>A (p.Gly301Glu)
n.605G>A
c.770G>A (p.Gly257Glu)
c.557-2608G>A (n.557-2608G>A)
n.283-8116G>A
c.755G>A (p.Gly252Glu)
15g.67184757G>CCA392956790SMAD3c.317G>C (p.Gly106Ala)
c.587G>C (p.Gly196Ala)
c.902G>C (p.Gly301Ala)
n.605G>C
c.770G>C (p.Gly257Ala)
c.557-2608G>C (n.557-2608G>C)
n.283-8116G>C
c.755G>C (p.Gly252Ala)
15g.67184757G=CA2184419203SMAD3c.317G= (p.Gly106=)
c.587G= (p.Gly196=)
c.902G= (p.Gly301=)
n.605G=
c.770G= (p.Gly257=)
c.557-2608G= (n.557-2608G=)
n.283-8116G=
c.755G= (p.Gly252=)
15g.67184757G>TCA392956793SMAD3c.317G>T (p.Gly106Val)
c.587G>T (p.Gly196Val)
c.902G>T (p.Gly301Val)
n.605G>T
c.770G>T (p.Gly257Val)
c.557-2608G>T (n.557-2608G>T)
n.283-8116G>T
c.755G>T (p.Gly252Val)
 dbSNP gnomAD v2 gnomAD v4
15g.67184758G>ACA490916460SMAD3c.318G>A (p.Gly106=)
c.588G>A (p.Gly196=)
c.903G>A (p.Gly301=)
n.606G>A
c.771G>A (p.Gly257=)
c.557-2607G>A (n.557-2607G>A)
n.283-8115G>A
c.756G>A (p.Gly252=)
 gnomAD v4
15g.67184758G>CCA490916461SMAD3c.318G>C (p.Gly106=)
c.588G>C (p.Gly196=)
c.903G>C (p.Gly301=)
n.606G>C
c.771G>C (p.Gly257=)
c.557-2607G>C (n.557-2607G>C)
n.283-8115G>C
c.756G>C (p.Gly252=)
15g.67184758G>TCA490916462SMAD3c.318G>T (p.Gly106=)
c.588G>T (p.Gly196=)
c.903G>T (p.Gly301=)
n.606G>T
c.771G>T (p.Gly257=)
c.557-2607G>T (n.557-2607G>T)
n.283-8115G>T
c.756G>T (p.Gly252=)
15g.67184759G>ACA392956796SMAD3c.319G>A (p.Glu107Lys)
c.589G>A (p.Glu197Lys)
c.904G>A (p.Glu302Lys)
n.607G>A
c.772G>A (p.Glu258Lys)
c.557-2606G>A (n.557-2606G>A)
n.283-8114G>A
c.757G>A (p.Glu253Lys)
15g.67184759G>CCA392956798SMAD3c.319G>C (p.Glu107Gln)
c.589G>C (p.Glu197Gln)
c.904G>C (p.Glu302Gln)
n.607G>C
c.772G>C (p.Glu258Gln)
c.557-2606G>C (n.557-2606G>C)
n.283-8114G>C
c.757G>C (p.Glu253Gln)
15g.67184759G>TCA392956799SMAD3c.319G>T (p.Glu107Ter)
c.589G>T (p.Glu197Ter)
c.904G>T (p.Glu302Ter)
n.607G>T
c.772G>T (p.Glu258Ter)
c.557-2606G>T (n.557-2606G>T)
n.283-8114G>T
c.757G>T (p.Glu253Ter)
15g.67184760A=CA2184419207SMAD3c.320A= (p.Glu107=)
c.590A= (p.Glu197=)
c.905A= (p.Glu302=)
n.608A=
c.773A= (p.Glu258=)
c.557-2605A= (n.557-2605A=)
n.283-8113A=
c.758A= (p.Glu253=)
15g.67184760A>CCA392956807SMAD3c.320A>C (p.Glu107Ala)
c.590A>C (p.Glu197Ala)
c.905A>C (p.Glu302Ala)
n.608A>C
c.773A>C (p.Glu258Ala)
c.557-2605A>C (n.557-2605A>C)
n.283-8113A>C
c.758A>C (p.Glu253Ala)

Number of alleles fetched