Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.67165184_67165245dupCA2629117528SMAD3c.86-69_86-8dup (n.86-69_86-8dup)
c.401-69_401-8dup (n.401-69_401-8dup)
c.269-69_269-8dup (n.269-69_269-8dup)
n.251-69_251-8dup
c.400+96_400+157dup (n.400+96_400+157dup)
c.254-69_254-8dup (n.254-69_254-8dup)
 gnomAD v4
15g.67165242C>ACA2573054096SMAD3c.86-11C>A (n.86-11C>A)
c.401-11C>A (n.401-11C>A)
c.269-11C>A (n.269-11C>A)
n.251-11C>A
c.400+154C>A (n.400+154C>A)
c.254-11C>A (n.254-11C>A)
 ClinVar dbSNP gnomAD v4
15g.67165242C=CA2184410565SMAD3c.86-11C= (n.86-11C=)
c.401-11C= (n.401-11C=)
c.269-11C= (n.269-11C=)
n.251-11C=
c.400+154C= (n.400+154C=)
c.254-11C= (n.254-11C=)
15g.67165242C>GCA2629117543SMAD3c.86-11C>G (n.86-11C>G)
c.401-11C>G (n.401-11C>G)
c.269-11C>G (n.269-11C>G)
n.251-11C>G
c.400+154C>G (n.400+154C>G)
c.254-11C>G (n.254-11C>G)
 gnomAD v4
15g.67165242C>TCA2184410564SMAD3c.86-11C>T (n.86-11C>T)
c.401-11C>T (n.401-11C>T)
c.269-11C>T (n.269-11C>T)
n.251-11C>T
c.400+154C>T (n.400+154C>T)
c.254-11C>T (n.254-11C>T)
 dbSNP
15g.67165246dupCA2629117544SMAD3c.86-7dup (n.86-7dup)
c.401-7dup (n.401-7dup)
c.269-7dup (n.269-7dup)
n.251-7dup
c.400+158dup (n.400+158dup)
c.254-7dup (n.254-7dup)
 gnomAD v4
15g.67165243C=CA2184410567SMAD3c.86-10C= (n.86-10C=)
c.401-10C= (n.401-10C=)
c.269-10C= (n.269-10C=)
n.251-10C=
c.400+155C= (n.400+155C=)
c.254-10C= (n.254-10C=)
15g.67165243C>GCA2629117545SMAD3c.86-10C>G (n.86-10C>G)
c.401-10C>G (n.401-10C>G)
c.269-10C>G (n.269-10C>G)
n.251-10C>G
c.400+155C>G (n.400+155C>G)
c.254-10C>G (n.254-10C>G)
 gnomAD v4
15g.67165243C>TCA618959014SMAD3c.86-10C>T (n.86-10C>T)
c.401-10C>T (n.401-10C>T)
c.269-10C>T (n.269-10C>T)
n.251-10C>T
c.400+155C>T (n.400+155C>T)
c.254-10C>T (n.254-10C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.67165244C>ACA2629117546SMAD3c.86-9C>A (n.86-9C>A)
c.401-9C>A (n.401-9C>A)
c.269-9C>A (n.269-9C>A)
n.251-9C>A
c.400+156C>A (n.400+156C>A)
c.254-9C>A (n.254-9C>A)
 dbSNP gnomAD v4
15g.67165244C=CA2184410571SMAD3c.86-9C= (n.86-9C=)
c.401-9C= (n.401-9C=)
c.269-9C= (n.269-9C=)
n.251-9C=
c.400+156C= (n.400+156C=)
c.254-9C= (n.254-9C=)
15g.67165244C>TCA272378611SMAD3c.86-9C>T (n.86-9C>T)
c.401-9C>T (n.401-9C>T)
c.269-9C>T (n.269-9C>T)
n.251-9C>T
c.400+156C>T (n.400+156C>T)
c.254-9C>T (n.254-9C>T)
 ClinVar dbSNP gnomAD v4
15g.67165245C>TCA2731025224SMAD3c.86-8C>T (n.86-8C>T)
c.401-8C>T (n.401-8C>T)
c.269-8C>T (n.269-8C>T)
n.251-8C>T
c.400+157C>T (n.400+157C>T)
c.254-8C>T (n.254-8C>T)
 dbSNP
15g.67165246C>ACA2499223060SMAD3c.86-7C>A (n.86-7C>A)
c.401-7C>A (n.401-7C>A)
c.269-7C>A (n.269-7C>A)
n.251-7C>A
c.400+158C>A (n.400+158C>A)
c.254-7C>A (n.254-7C>A)
 ClinVar dbSNP
15g.67165246C=CA2184410578SMAD3c.86-7C= (n.86-7C=)
c.401-7C= (n.401-7C=)
c.269-7C= (n.269-7C=)
n.251-7C=
c.400+158C= (n.400+158C=)
c.254-7C= (n.254-7C=)
15g.67165246C>GCA2575767824SMAD3c.86-7C>G (n.86-7C>G)
c.401-7C>G (n.401-7C>G)
c.269-7C>G (n.269-7C>G)
n.251-7C>G
c.400+158C>G (n.400+158C>G)
c.254-7C>G (n.254-7C>G)
 dbSNP
15g.67165246C>TCA062211SMAD3c.86-7C>T (n.86-7C>T)
c.401-7C>T (n.401-7C>T)
c.269-7C>T (n.269-7C>T)
n.251-7C>T
c.400+158C>T (n.400+158C>T)
c.254-7C>T (n.254-7C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.67165247G>ACA323805SMAD3c.86-6G>A (n.86-6G>A)
c.401-6G>A (n.401-6G>A)
c.269-6G>A (n.269-6G>A)
n.251-6G>A
c.400+159G>A (n.400+159G>A)
c.254-6G>A (n.254-6G>A)
 ClinVar dbSNP gnomAD v4
15g.67165247G>CCA062207SMAD3c.86-6G>C (n.86-6G>C)
c.401-6G>C (n.401-6G>C)
c.269-6G>C (n.269-6G>C)
n.251-6G>C
c.400+159G>C (n.400+159G>C)
c.254-6G>C (n.254-6G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.67165247G=CA2184410584SMAD3c.86-6G= (n.86-6G=)
c.401-6G= (n.401-6G=)
c.269-6G= (n.269-6G=)
n.251-6G=
c.400+159G= (n.400+159G=)
c.254-6G= (n.254-6G=)
15g.67165248G>ACA2629117547SMAD3c.86-5G>A (n.86-5G>A)
c.401-5G>A (n.401-5G>A)
c.269-5G>A (n.269-5G>A)
n.251-5G>A
c.400+160G>A (n.400+160G>A)
c.254-5G>A (n.254-5G>A)
 gnomAD v4
15g.67165248G>CCA2731025244SMAD3c.86-5G>C (n.86-5G>C)
c.401-5G>C (n.401-5G>C)
c.269-5G>C (n.269-5G>C)
n.251-5G>C
c.400+160G>C (n.400+160G>C)
c.254-5G>C (n.254-5G>C)
 dbSNP
15g.67165249A>GCA2575767825SMAD3c.86-4A>G (n.86-4A>G)
c.401-4A>G (n.401-4A>G)
c.269-4A>G (n.269-4A>G)
n.251-4A>G
c.400+161A>G (n.400+161A>G)
c.254-4A>G (n.254-4A>G)
 ClinVar gnomAD v4
15g.67165251A>CCA392954223SMAD3c.86-2A>C (n.86-2A>C)
c.401-2A>C (n.401-2A>C)
c.269-2A>C (n.269-2A>C)
n.251-2A>C
c.400+163A>C (n.400+163A>C)
c.254-2A>C (n.254-2A>C)
15g.67165251A>GCA392954224SMAD3c.86-2A>G (n.86-2A>G)
c.401-2A>G (n.401-2A>G)
c.269-2A>G (n.269-2A>G)
n.251-2A>G
c.400+163A>G (n.400+163A>G)
c.254-2A>G (n.254-2A>G)
15g.67165251A>TCA392954225SMAD3c.86-2A>T (n.86-2A>T)
c.401-2A>T (n.401-2A>T)
c.269-2A>T (n.269-2A>T)
n.251-2A>T
c.400+163A>T (n.400+163A>T)
c.254-2A>T (n.254-2A>T)
15g.67165252G>ACA16622073SMAD3c.86-1G>A (n.86-1G>A)
c.401-1G>A (n.401-1G>A)
c.269-1G>A (n.269-1G>A)
n.251-1G>A
c.400+164G>A (n.400+164G>A)
c.254-1G>A (n.254-1G>A)
15g.67165252G>CCA392954227SMAD3c.86-1G>C (n.86-1G>C)
c.401-1G>C (n.401-1G>C)
c.269-1G>C (n.269-1G>C)
n.251-1G>C
c.400+164G>C (n.400+164G>C)
c.254-1G>C (n.254-1G>C)
15g.67165252G>TCA392954226SMAD3c.86-1G>T (n.86-1G>T)
c.401-1G>T (n.401-1G>T)
c.269-1G>T (n.269-1G>T)
n.251-1G>T
c.400+164G>T (n.400+164G>T)
c.254-1G>T (n.254-1G>T)
15g.67165253T>ACA392954228SMAD3c.86T>A (p.Val29Asp)
c.401T>A (p.Val134Asp)
c.269T>A (p.Val90Asp)
n.251T>A
c.400+165T>A (n.400+165T>A)
c.254T>A (p.Val85Asp)
15g.67165253T>CCA321543SMAD3c.86T>C (p.Val29Ala)
c.401T>C (p.Val134Ala)
c.269T>C (p.Val90Ala)
n.251T>C
c.400+165T>C (n.400+165T>C)
c.254T>C (p.Val85Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.67165253T>GCA392954229SMAD3c.86T>G (p.Val29Gly)
c.401T>G (p.Val134Gly)
c.269T>G (p.Val90Gly)
n.251T>G
c.400+165T>G (n.400+165T>G)
c.254T>G (p.Val85Gly)
15g.67165253T=CA2184410593SMAD3c.86T= (p.Val29=)
c.401T= (p.Val134=)
c.269T= (p.Val90=)
n.251T=
c.400+165T= (n.400+165T=)
c.254T= (p.Val85=)
15g.67165253_67165257dupCA658820889SMAD3c.86_90dup (p.Pro31PhefsTer?)
c.401_405dup (p.Pro136PhefsTer?)
c.269_273dup (p.Pro92PhefsTer?)
n.251_255dup
c.400+165_400+169dup (n.400+165_400+169dup)
c.254_258dup (p.Pro87PhefsTer?)
15g.67165254T>ACA491071682SMAD3c.87T>A (p.Val29=)
c.402T>A (p.Val134=)
c.270T>A (p.Val90=)
n.252T>A
c.400+166T>A (n.400+166T>A)
c.255T>A (p.Val85=)
15g.67165254T>CCA491071683SMAD3c.87T>C (p.Val29=)
c.402T>C (p.Val134=)
c.270T>C (p.Val90=)
n.252T>C
c.400+166T>C (n.400+166T>C)
c.255T>C (p.Val85=)
15g.67165254T>GCA491071684SMAD3c.87T>G (p.Val29=)
c.402T>G (p.Val134=)
c.270T>G (p.Val90=)
n.252T>G
c.400+166T>G (n.400+166T>G)
c.255T>G (p.Val85=)
15g.67165255C>ACA392954230SMAD3c.88C>A (p.Leu30Ile)
c.403C>A (p.Leu135Ile)
c.271C>A (p.Leu91Ile)
n.253C>A
c.400+167C>A (n.400+167C>A)
c.256C>A (p.Leu86Ile)
15g.67165255C>GCA392954231SMAD3c.88C>G (p.Leu30Val)
c.403C>G (p.Leu135Val)
c.271C>G (p.Leu91Val)
n.253C>G
c.400+167C>G (n.400+167C>G)
c.256C>G (p.Leu86Val)
15g.67165255C>TCA491071685SMAD3c.88C>T (p.Leu30=)
c.403C>T (p.Leu135=)
c.271C>T (p.Leu91=)
n.253C>T
c.400+167C>T (n.400+167C>T)
c.256C>T (p.Leu86=)
15g.67165256T>ACA392954234SMAD3c.89T>A (p.Leu30Gln)
c.404T>A (p.Leu135Gln)
c.272T>A (p.Leu91Gln)
n.254T>A
c.400+168T>A (n.400+168T>A)
c.257T>A (p.Leu86Gln)
15g.67165256T>CCA392954233SMAD3c.89T>C (p.Leu30Pro)
c.404T>C (p.Leu135Pro)
c.272T>C (p.Leu91Pro)
n.254T>C
c.400+168T>C (n.400+168T>C)
c.257T>C (p.Leu86Pro)
 dbSNP
15g.67165256T>GCA392954232SMAD3c.89T>G (p.Leu30Arg)
c.404T>G (p.Leu135Arg)
c.272T>G (p.Leu91Arg)
n.254T>G
c.400+168T>G (n.400+168T>G)
c.257T>G (p.Leu86Arg)
15g.67165256T=CA2184410597SMAD3c.89T= (p.Leu30=)
c.404T= (p.Leu135=)
c.272T= (p.Leu91=)
n.254T=
c.400+168T= (n.400+168T=)
c.257T= (p.Leu86=)
15g.67165257A=CA2184410601SMAD3c.90A= (p.Leu30=)
c.405A= (p.Leu135=)
c.273A= (p.Leu91=)
n.255A=
c.400+169A= (n.400+169A=)
c.258A= (p.Leu86=)
15g.67165257A>CCA491071686SMAD3c.90A>C (p.Leu30=)
c.405A>C (p.Leu135=)
c.273A>C (p.Leu91=)
n.255A>C
c.400+169A>C (n.400+169A>C)
c.258A>C (p.Leu86=)
 dbSNP
15g.67165257A>GCA491071687SMAD3c.90A>G (p.Leu30=)
c.405A>G (p.Leu135=)
c.273A>G (p.Leu91=)
n.255A>G
c.400+169A>G (n.400+169A>G)
c.258A>G (p.Leu86=)
15g.67165257A>TCA491071688SMAD3c.90A>T (p.Leu30=)
c.405A>T (p.Leu135=)
c.273A>T (p.Leu91=)
n.255A>T
c.400+169A>T (n.400+169A>T)
c.258A>T (p.Leu86=)
 dbSNP
15g.67165258C>ACA392954235SMAD3c.91C>A (p.Pro31Thr)
c.406C>A (p.Pro136Thr)
c.274C>A (p.Pro92Thr)
n.256C>A
c.400+170C>A (n.400+170C>A)
c.259C>A (p.Pro87Thr)
15g.67165258C>GCA392954236SMAD3c.91C>G (p.Pro31Ala)
c.406C>G (p.Pro136Ala)
c.274C>G (p.Pro92Ala)
n.256C>G
c.400+170C>G (n.400+170C>G)
c.259C>G (p.Pro87Ala)
15g.67165258C>TCA392954237SMAD3c.91C>T (p.Pro31Ser)
c.406C>T (p.Pro136Ser)
c.274C>T (p.Pro92Ser)
n.256C>T
c.400+170C>T (n.400+170C>T)
c.259C>T (p.Pro87Ser)
15g.67165259C>ACA392954238SMAD3c.92C>A (p.Pro31His)
c.407C>A (p.Pro136His)
c.275C>A (p.Pro92His)
n.257C>A
c.400+171C>A (n.400+171C>A)
c.260C>A (p.Pro87His)
15g.67165259C>GCA392954239SMAD3c.92C>G (p.Pro31Arg)
c.407C>G (p.Pro136Arg)
c.275C>G (p.Pro92Arg)
n.257C>G
c.400+171C>G (n.400+171C>G)
c.260C>G (p.Pro87Arg)
15g.67165259C>TCA392954240SMAD3c.92C>T (p.Pro31Leu)
c.407C>T (p.Pro136Leu)
c.275C>T (p.Pro92Leu)
n.257C>T
c.400+171C>T (n.400+171C>T)
c.260C>T (p.Pro87Leu)
15g.67165260T>ACA491071689SMAD3c.93T>A (p.Pro31=)
c.408T>A (p.Pro136=)
c.276T>A (p.Pro92=)
n.258T>A
c.400+172T>A (n.400+172T>A)
c.261T>A (p.Pro87=)
15g.67165260T>CCA491071691SMAD3c.93T>C (p.Pro31=)
c.408T>C (p.Pro136=)
c.276T>C (p.Pro92=)
n.258T>C
c.400+172T>C (n.400+172T>C)
c.261T>C (p.Pro87=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.67165260T>GCA491071690SMAD3c.93T>G (p.Pro31=)
c.408T>G (p.Pro136=)
c.276T>G (p.Pro92=)
n.258T>G
c.400+172T>G (n.400+172T>G)
c.261T>G (p.Pro87=)
 dbSNP gnomAD v2 gnomAD v4
15g.67165260T=CA2184410605SMAD3c.93T= (p.Pro31=)
c.408T= (p.Pro136=)
c.276T= (p.Pro92=)
n.258T=
c.400+172T= (n.400+172T=)
c.261T= (p.Pro87=)
15g.67165261C>ACA392954243SMAD3c.94C>A (p.Pro32Thr)
c.409C>A (p.Pro137Thr)
c.277C>A (p.Pro93Thr)
n.259C>A
c.400+173C>A (n.400+173C>A)
c.262C>A (p.Pro88Thr)
15g.67165261C>GCA392954241SMAD3c.94C>G (p.Pro32Ala)
c.409C>G (p.Pro137Ala)
c.277C>G (p.Pro93Ala)
n.259C>G
c.400+173C>G (n.400+173C>G)
c.262C>G (p.Pro88Ala)
15g.67165261C>TCA392954242SMAD3c.94C>T (p.Pro32Ser)
c.409C>T (p.Pro137Ser)
c.277C>T (p.Pro93Ser)
n.259C>T
c.400+173C>T (n.400+173C>T)
c.262C>T (p.Pro88Ser)
15g.67165262C>ACA392954244SMAD3c.95C>A (p.Pro32His)
c.410C>A (p.Pro137His)
c.278C>A (p.Pro93His)
n.260C>A
c.400+174C>A (n.400+174C>A)
c.263C>A (p.Pro88His)
15g.67165262C>GCA392954245SMAD3c.95C>G (p.Pro32Arg)
c.410C>G (p.Pro137Arg)
c.278C>G (p.Pro93Arg)
n.260C>G
c.400+174C>G (n.400+174C>G)
c.263C>G (p.Pro88Arg)
15g.67165262C>TCA392954246SMAD3c.95C>T (p.Pro32Leu)
c.410C>T (p.Pro137Leu)
c.278C>T (p.Pro93Leu)
n.260C>T
c.400+174C>T (n.400+174C>T)
c.263C>T (p.Pro88Leu)
15g.67165263T>ACA491071692SMAD3c.96T>A (p.Pro32=)
c.411T>A (p.Pro137=)
c.279T>A (p.Pro93=)
n.261T>A
c.400+175T>A (n.400+175T>A)
c.264T>A (p.Pro88=)
 ClinVar
15g.67165263T>CCA491071694SMAD3c.96T>C (p.Pro32=)
c.411T>C (p.Pro137=)
c.279T>C (p.Pro93=)
n.261T>C
c.400+175T>C (n.400+175T>C)
c.264T>C (p.Pro88=)
15g.67165263T>GCA491071693SMAD3c.96T>G (p.Pro32=)
c.411T>G (p.Pro137=)
c.279T>G (p.Pro93=)
n.261T>G
c.400+175T>G (n.400+175T>G)
c.264T>G (p.Pro88=)
15g.67165264G>ACA392954247SMAD3c.97G>A (p.Val33Met)
c.412G>A (p.Val138Met)
c.280G>A (p.Val94Met)
n.262G>A
c.400+176G>A (n.400+176G>A)
c.265G>A (p.Val89Met)
 dbSNP gnomAD v3 gnomAD v4
15g.67165264G>CCA392954248SMAD3c.97G>C (p.Val33Leu)
c.412G>C (p.Val138Leu)
c.280G>C (p.Val94Leu)
n.262G>C
c.400+176G>C (n.400+176G>C)
c.265G>C (p.Val89Leu)
15g.67165264G=CA2184410613SMAD3c.97G= (p.Val33=)
c.412G= (p.Val138=)
c.280G= (p.Val94=)
n.262G=
c.400+176G= (n.400+176G=)
c.265G= (p.Val89=)
15g.67165264G>TCA392954249SMAD3c.97G>T (p.Val33Leu)
c.412G>T (p.Val138Leu)
c.280G>T (p.Val94Leu)
n.262G>T
c.400+176G>T (n.400+176G>T)
c.265G>T (p.Val89Leu)
15g.67165265T>ACA392954250SMAD3c.98T>A (p.Val33Glu)
c.413T>A (p.Val138Glu)
c.281T>A (p.Val94Glu)
n.263T>A
c.400+177T>A (n.400+177T>A)
c.266T>A (p.Val89Glu)
15g.67165265T>CCA392954251SMAD3c.98T>C (p.Val33Ala)
c.413T>C (p.Val138Ala)
c.281T>C (p.Val94Ala)
n.263T>C
c.400+177T>C (n.400+177T>C)
c.266T>C (p.Val89Ala)
15g.67165265T>GCA392954252SMAD3c.98T>G (p.Val33Gly)
c.413T>G (p.Val138Gly)
c.281T>G (p.Val94Gly)
n.263T>G
c.400+177T>G (n.400+177T>G)
c.266T>G (p.Val89Gly)
15g.67165266G>ACA062221SMAD3c.99G>A (p.Val33=)
c.414G>A (p.Val138=)
c.282G>A (p.Val94=)
n.264G>A
c.400+178G>A (n.400+178G>A)
c.267G>A (p.Val89=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.67165266G>CCA491071695SMAD3c.99G>C (p.Val33=)
c.414G>C (p.Val138=)
c.282G>C (p.Val94=)
n.264G>C
c.400+178G>C (n.400+178G>C)
c.267G>C (p.Val89=)
 gnomAD v4
15g.67165266G=CA2184410617SMAD3c.99G= (p.Val33=)
c.414G= (p.Val138=)
c.282G= (p.Val94=)
n.264G=
c.400+178G= (n.400+178G=)
c.267G= (p.Val89=)
15g.67165266G>TCA491071696SMAD3c.99G>T (p.Val33=)
c.414G>T (p.Val138=)
c.282G>T (p.Val94=)
n.264G>T
c.400+178G>T (n.400+178G>T)
c.267G>T (p.Val89=)
15g.67165267T>ACA392954253SMAD3c.100T>A (p.Leu34Met)
c.415T>A (p.Leu139Met)
c.283T>A (p.Leu95Met)
n.265T>A
c.400+179T>A (n.400+179T>A)
c.268T>A (p.Leu90Met)
15g.67165267T>CCA491071697SMAD3c.100T>C (p.Leu34=)
c.415T>C (p.Leu139=)
c.283T>C (p.Leu95=)
n.265T>C
c.400+179T>C (n.400+179T>C)
c.268T>C (p.Leu90=)
 ClinVar
15g.67165267T>GCA392954254SMAD3c.100T>G (p.Leu34Val)
c.415T>G (p.Leu139Val)
c.283T>G (p.Leu95Val)
n.265T>G
c.400+179T>G (n.400+179T>G)
c.268T>G (p.Leu90Val)
15g.67165268T>ACA392954255SMAD3c.101T>A (p.Leu34Ter)
c.416T>A (p.Leu139Ter)
c.284T>A (p.Leu95Ter)
n.266T>A
c.400+180T>A (n.400+180T>A)
c.269T>A (p.Leu90Ter)
15g.67165268T>CCA392954257SMAD3c.101T>C (p.Leu34Ser)
c.416T>C (p.Leu139Ser)
c.284T>C (p.Leu95Ser)
n.266T>C
c.400+180T>C (n.400+180T>C)
c.269T>C (p.Leu90Ser)
15g.67165268T>GCA392954256SMAD3c.101T>G (p.Leu34Trp)
c.416T>G (p.Leu139Trp)
c.284T>G (p.Leu95Trp)
n.266T>G
c.400+180T>G (n.400+180T>G)
c.269T>G (p.Leu90Trp)
15g.67165269G>ACA491071698SMAD3c.102G>A (p.Leu34=)
c.417G>A (p.Leu139=)
c.285G>A (p.Leu95=)
n.267G>A
c.400+181G>A (n.400+181G>A)
c.270G>A (p.Leu90=)
15g.67165269G>CCA062226SMAD3c.102G>C (p.Leu34Phe)
c.417G>C (p.Leu139Phe)
c.285G>C (p.Leu95Phe)
n.267G>C
c.400+181G>C (n.400+181G>C)
c.270G>C (p.Leu90Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.67165269G=CA2184410626SMAD3c.102G= (p.Leu34=)
c.417G= (p.Leu139=)
c.285G= (p.Leu95=)
n.267G=
c.400+181G= (n.400+181G=)
c.270G= (p.Leu90=)
15g.67165269G>TCA392954258SMAD3c.102G>T (p.Leu34Phe)
c.417G>T (p.Leu139Phe)
c.285G>T (p.Leu95Phe)
n.267G>T
c.400+181G>T (n.400+181G>T)
c.270G>T (p.Leu90Phe)
15g.67165270G>ACA392954259SMAD3c.103G>A (p.Val35Met)
c.418G>A (p.Val140Met)
c.286G>A (p.Val96Met)
n.268G>A
c.400+182G>A (n.400+182G>A)
c.271G>A (p.Val91Met)
15g.67165270G>CCA392954260SMAD3c.103G>C (p.Val35Leu)
c.418G>C (p.Val140Leu)
c.286G>C (p.Val96Leu)
n.268G>C
c.400+182G>C (n.400+182G>C)
c.271G>C (p.Val91Leu)
15g.67165270G=CA2184410629SMAD3c.103G= (p.Val35=)
c.418G= (p.Val140=)
c.286G= (p.Val96=)
n.268G=
c.400+182G= (n.400+182G=)
c.271G= (p.Val91=)
15g.67165270G>TCA392954261SMAD3c.103G>T (p.Val35Leu)
c.418G>T (p.Val140Leu)
c.286G>T (p.Val96Leu)
n.268G>T
c.400+182G>T (n.400+182G>T)
c.271G>T (p.Val91Leu)
 dbSNP
15g.67165271T>ACA392954262SMAD3c.104T>A (p.Val35Glu)
c.419T>A (p.Val140Glu)
c.287T>A (p.Val96Glu)
n.269T>A
c.400+183T>A (n.400+183T>A)
c.272T>A (p.Val91Glu)
15g.67165271T>CCA392954263SMAD3c.104T>C (p.Val35Ala)
c.419T>C (p.Val140Ala)
c.287T>C (p.Val96Ala)
n.269T>C
c.400+183T>C (n.400+183T>C)
c.272T>C (p.Val91Ala)
 gnomAD v4
15g.67165271T>GCA392954264SMAD3c.104T>G (p.Val35Gly)
c.419T>G (p.Val140Gly)
c.287T>G (p.Val96Gly)
n.269T>G
c.400+183T>G (n.400+183T>G)
c.272T>G (p.Val91Gly)
15g.67165272G>ACA491071699SMAD3c.105G>A (p.Val35=)
c.420G>A (p.Val140=)
c.288G>A (p.Val96=)
n.270G>A
c.400+184G>A (n.400+184G>A)
c.273G>A (p.Val91=)
 dbSNP
15g.67165272G>CCA491071700SMAD3c.105G>C (p.Val35=)
c.420G>C (p.Val140=)
c.288G>C (p.Val96=)
n.270G>C
c.400+184G>C (n.400+184G>C)
c.273G>C (p.Val91=)
15g.67165272G=CA2184410631SMAD3c.105G= (p.Val35=)
c.420G= (p.Val140=)
c.288G= (p.Val96=)
n.270G=
c.400+184G= (n.400+184G=)
c.273G= (p.Val91=)
15g.67165272G>TCA491071701SMAD3c.105G>T (p.Val35=)
c.420G>T (p.Val140=)
c.288G>T (p.Val96=)
n.270G>T
c.400+184G>T (n.400+184G>T)
c.273G>T (p.Val91=)
15g.67165273C>ACA392954265SMAD3c.106C>A (p.Pro36Thr)
c.421C>A (p.Pro141Thr)
c.289C>A (p.Pro97Thr)
n.271C>A
c.400+185C>A (n.400+185C>A)
c.274C>A (p.Pro92Thr)
15g.67165273C>GCA392954266SMAD3c.106C>G (p.Pro36Ala)
c.421C>G (p.Pro141Ala)
c.289C>G (p.Pro97Ala)
n.271C>G
c.400+185C>G (n.400+185C>G)
c.274C>G (p.Pro92Ala)
15g.67165273C>TCA392954267SMAD3c.106C>T (p.Pro36Ser)
c.421C>T (p.Pro141Ser)
c.289C>T (p.Pro97Ser)
n.271C>T
c.400+185C>T (n.400+185C>T)
c.274C>T (p.Pro92Ser)
 dbSNP
15g.67165274C>ACA392954270SMAD3c.107C>A (p.Pro36Gln)
c.422C>A (p.Pro141Gln)
c.290C>A (p.Pro97Gln)
n.272C>A
c.400+186C>A (n.400+186C>A)
c.275C>A (p.Pro92Gln)
15g.67165274C>GCA392954269SMAD3c.107C>G (p.Pro36Arg)
c.422C>G (p.Pro141Arg)
c.290C>G (p.Pro97Arg)
n.272C>G
c.400+186C>G (n.400+186C>G)
c.275C>G (p.Pro92Arg)
15g.67165274C>TCA392954268SMAD3c.107C>T (p.Pro36Leu)
c.422C>T (p.Pro141Leu)
c.290C>T (p.Pro97Leu)
n.272C>T
c.400+186C>T (n.400+186C>T)
c.275C>T (p.Pro92Leu)
15g.67165275A>CCA491071703SMAD3c.108A>C (p.Pro36=)
c.423A>C (p.Pro141=)
c.291A>C (p.Pro97=)
n.273A>C
c.400+187A>C (n.400+187A>C)
c.276A>C (p.Pro92=)
15g.67165275A>GCA491071704SMAD3c.108A>G (p.Pro36=)
c.423A>G (p.Pro141=)
c.291A>G (p.Pro97=)
n.273A>G
c.400+187A>G (n.400+187A>G)
c.276A>G (p.Pro92=)
15g.67165275A>TCA491071705SMAD3c.108A>T (p.Pro36=)
c.423A>T (p.Pro141=)
c.291A>T (p.Pro97=)
n.273A>T
c.400+187A>T (n.400+187A>T)
c.276A>T (p.Pro92=)
15g.67165276C>ACA392954271SMAD3c.109C>A (p.Arg37Ser)
c.424C>A (p.Arg142Ser)
c.292C>A (p.Arg98Ser)
n.274C>A
c.400+188C>A (n.400+188C>A)
c.277C>A (p.Arg93Ser)
15g.67165276C=CA2184410635SMAD3c.109C= (p.Arg37=)
c.424C= (p.Arg142=)
c.292C= (p.Arg98=)
n.274C=
c.400+188C= (n.400+188C=)
c.277C= (p.Arg93=)
15g.67165276C>GCA392954272SMAD3c.109C>G (p.Arg37Gly)
c.424C>G (p.Arg142Gly)
c.292C>G (p.Arg98Gly)
n.274C>G
c.400+188C>G (n.400+188C>G)
c.277C>G (p.Arg93Gly)
15g.67165276C>TCA392954273SMAD3c.109C>T (p.Arg37Cys)
c.424C>T (p.Arg142Cys)
c.292C>T (p.Arg98Cys)
n.274C>T
c.400+188C>T (n.400+188C>T)
c.277C>T (p.Arg93Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.67165277G>ACA392954274SMAD3c.110G>A (p.Arg37His)
c.425G>A (p.Arg142His)
c.293G>A (p.Arg98His)
n.275G>A
c.400+189G>A (n.400+189G>A)
c.278G>A (p.Arg93His)
 dbSNP gnomAD v4 COSMIC COSMIC
15g.67165277G>CCA392954275SMAD3c.110G>C (p.Arg37Pro)
c.425G>C (p.Arg142Pro)
c.293G>C (p.Arg98Pro)
n.275G>C
c.400+189G>C (n.400+189G>C)
c.278G>C (p.Arg93Pro)
15g.67165277G=CA2184410640SMAD3c.110G= (p.Arg37=)
c.425G= (p.Arg142=)
c.293G= (p.Arg98=)
n.275G=
c.400+189G= (n.400+189G=)
c.278G= (p.Arg93=)
15g.67165277G>TCA392954276SMAD3c.110G>T (p.Arg37Leu)
c.425G>T (p.Arg142Leu)
c.293G>T (p.Arg98Leu)
n.275G>T
c.400+189G>T (n.400+189G>T)
c.278G>T (p.Arg93Leu)
15g.67165277_67165282delinsGCCACACA2184410638SMAD3c.110_115delinsGCCACA (p.Arg37=)
c.425_430delinsGCCACA (p.Arg142=)
c.293_298delinsGCCACA (p.Arg98=)
n.275_280delinsGCCACA
c.400+189_400+194delinsGCCACA (n.400+189_400+194delinsGCCACA)
c.278_283delinsGCCACA (p.Arg93=)
15g.67165278C>ACA491071706SMAD3c.111C>A (p.Arg37=)
c.426C>A (p.Arg142=)
c.294C>A (p.Arg98=)
n.276C>A
c.400+190C>A (n.400+190C>A)
c.279C>A (p.Arg93=)
 COSMIC COSMIC
15g.67165278C=CA2184410647SMAD3c.111C= (p.Arg37=)
c.426C= (p.Arg142=)
c.294C= (p.Arg98=)
n.276C=
c.400+190C= (n.400+190C=)
c.279C= (p.Arg93=)
15g.67165278C>GCA062232SMAD3c.111C>G (p.Arg37=)
c.426C>G (p.Arg142=)
c.294C>G (p.Arg98=)
n.276C>G
c.400+190C>G (n.400+190C>G)
c.279C>G (p.Arg93=)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.67165278C>TCA491071707SMAD3c.111C>T (p.Arg37=)
c.426C>T (p.Arg142=)
c.294C>T (p.Arg98=)
n.276C>T
c.400+190C>T (n.400+190C>T)
c.279C>T (p.Arg93=)
15g.67165279_67165283delCA16614888SMAD3c.112_116del (p.His38ArgfsTer21)
c.427_431del (p.His143ArgfsTer21)
c.295_299del (p.His99ArgfsTer21)
n.277_281del
c.400+191_400+195del (n.400+191_400+195del)
c.280_284del (p.His94ArgfsTer21)
 ClinVar dbSNP
15g.67165279C>ACA392954277SMAD3c.112C>A (p.His38Asn)
c.427C>A (p.His143Asn)
c.295C>A (p.His99Asn)
n.277C>A
c.400+191C>A (n.400+191C>A)
c.280C>A (p.His94Asn)
15g.67165279C>GCA392954278SMAD3c.112C>G (p.His38Asp)
c.427C>G (p.His143Asp)
c.295C>G (p.His99Asp)
n.277C>G
c.400+191C>G (n.400+191C>G)
c.280C>G (p.His94Asp)
15g.67165279C>TCA392954279SMAD3c.112C>T (p.His38Tyr)
c.427C>T (p.His143Tyr)
c.295C>T (p.His99Tyr)
n.277C>T
c.400+191C>T (n.400+191C>T)
c.280C>T (p.His94Tyr)
15g.67165283_67165284delCA2580613861SMAD3c.116_117del (p.Thr39ArgfsTer21)
c.431_432del (p.Thr144ArgfsTer21)
c.299_300del (p.Thr100ArgfsTer21)
n.281_282del
c.400+195_400+196del (n.400+195_400+196del)
c.284_285del (p.Thr95ArgfsTer21)
 ClinVar dbSNP
15g.67165280A>CCA392954280SMAD3c.113A>C (p.His38Pro)
c.428A>C (p.His143Pro)
c.296A>C (p.His99Pro)
n.278A>C
c.400+192A>C (n.400+192A>C)
c.281A>C (p.His94Pro)
15g.67165280A>GCA392954281SMAD3c.113A>G (p.His38Arg)
c.428A>G (p.His143Arg)
c.296A>G (p.His99Arg)
n.278A>G
c.400+192A>G (n.400+192A>G)
c.281A>G (p.His94Arg)
15g.67165280A>TCA392954282SMAD3c.113A>T (p.His38Leu)
c.428A>T (p.His143Leu)
c.296A>T (p.His99Leu)
n.278A>T
c.400+192A>T (n.400+192A>T)
c.281A>T (p.His94Leu)
15g.67165281C>ACA272378612SMAD3c.114C>A (p.His38Gln)
c.429C>A (p.His143Gln)
c.297C>A (p.His99Gln)
n.279C>A
c.400+193C>A (n.400+193C>A)
c.282C>A (p.His94Gln)
 dbSNP
15g.67165281C=CA2184410660SMAD3c.114C= (p.His38=)
c.429C= (p.His143=)
c.297C= (p.His99=)
n.279C=
c.400+193C= (n.400+193C=)
c.282C= (p.His94=)
15g.67165281C>GCA392954283SMAD3c.114C>G (p.His38Gln)
c.429C>G (p.His143Gln)
c.297C>G (p.His99Gln)
n.279C>G
c.400+193C>G (n.400+193C>G)
c.282C>G (p.His94Gln)
15g.67165281C>TCA491071708SMAD3c.114C>T (p.His38=)
c.429C>T (p.His143=)
c.297C>T (p.His99=)
n.279C>T
c.400+193C>T (n.400+193C>T)
c.282C>T (p.His94=)
15g.67165282A=CA2184410694SMAD3c.115A= (p.Thr39=)
c.430A= (p.Thr144=)
c.298A= (p.Thr100=)
n.280A=
c.400+194A= (n.400+194A=)
c.283A= (p.Thr95=)
15g.67165282A>CCA392954284SMAD3c.115A>C (p.Thr39Pro)
c.430A>C (p.Thr144Pro)
c.298A>C (p.Thr100Pro)
n.280A>C
c.400+194A>C (n.400+194A>C)
c.283A>C (p.Thr95Pro)
15g.67165282A>GCA392954286SMAD3c.115A>G (p.Thr39Ala)
c.430A>G (p.Thr144Ala)
c.298A>G (p.Thr100Ala)
n.280A>G
c.400+194A>G (n.400+194A>G)
c.283A>G (p.Thr95Ala)
 dbSNP gnomAD v3 gnomAD v4
15g.67165282A>TCA392954285SMAD3c.115A>T (p.Thr39Ser)
c.430A>T (p.Thr144Ser)
c.298A>T (p.Thr100Ser)
n.280A>T
c.400+194A>T (n.400+194A>T)
c.283A>T (p.Thr95Ser)
15g.67165283C>ACA392954287SMAD3c.116C>A (p.Thr39Lys)
c.431C>A (p.Thr144Lys)
c.299C>A (p.Thr100Lys)
n.281C>A
c.400+195C>A (n.400+195C>A)
c.284C>A (p.Thr95Lys)
15g.67165283C=CA2184410697SMAD3c.116C= (p.Thr39=)
c.431C= (p.Thr144=)
c.299C= (p.Thr100=)
n.281C=
c.400+195C= (n.400+195C=)
c.284C= (p.Thr95=)
15g.67165283C>GCA392954288SMAD3c.116C>G (p.Thr39Arg)
c.431C>G (p.Thr144Arg)
c.299C>G (p.Thr100Arg)
n.281C>G
c.400+195C>G (n.400+195C>G)
c.284C>G (p.Thr95Arg)
15g.67165283C>TCA392954289SMAD3c.116C>T (p.Thr39Ile)
c.431C>T (p.Thr144Ile)
c.299C>T (p.Thr100Ile)
n.281C>T
c.400+195C>T (n.400+195C>T)
c.284C>T (p.Thr95Ile)
 dbSNP
15g.67165284A=CA2184410701SMAD3c.117A= (p.Thr39=)
c.432A= (p.Thr144=)
c.300A= (p.Thr100=)
n.282A=
c.400+196A= (n.400+196A=)
c.285A= (p.Thr95=)
15g.67165284A>CCA491071710SMAD3c.117A>C (p.Thr39=)
c.432A>C (p.Thr144=)
c.300A>C (p.Thr100=)
n.282A>C
c.400+196A>C (n.400+196A>C)
c.285A>C (p.Thr95=)
15g.67165284A>GCA062237SMAD3c.117A>G (p.Thr39=)
c.432A>G (p.Thr144=)
c.300A>G (p.Thr100=)
n.282A>G
c.400+196A>G (n.400+196A>G)
c.285A>G (p.Thr95=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.67165284A>TCA491071709SMAD3c.117A>T (p.Thr39=)
c.432A>T (p.Thr144=)
c.300A>T (p.Thr100=)
n.282A>T
c.400+196A>T (n.400+196A>T)
c.285A>T (p.Thr95=)
15g.67165287_67165288delCA2580613862SMAD3c.120_121del (p.Glu40AspfsTer20)
c.435_436del (p.Glu145AspfsTer20)
c.303_304del (p.Glu101AspfsTer20)
n.285_286del
c.400+199_400+200del (n.400+199_400+200del)
c.288_289del (p.Glu96AspfsTer20)
 ClinVar
15g.67165284_67165296delinsAGAGATCCCGGCCCA2184410702SMAD3c.117_129delinsAGAGATCCCGGCC (p.Thr39=)
c.432_444delinsAGAGATCCCGGCC (p.Thr144=)
c.300_312delinsAGAGATCCCGGCC (p.Thr100=)
n.282_294delinsAGAGATCCCGGCC
c.400+196_400+208delinsAGAGATCCCGGCC (n.400+196_400+208delinsAGAGATCCCGGCC)
c.285_297delinsAGAGATCCCGGCC (p.Thr95=)
15g.67165285G>ACA392954290SMAD3c.118G>A (p.Glu40Lys)
c.433G>A (p.Glu145Lys)
c.301G>A (p.Glu101Lys)
n.283G>A
c.400+197G>A (n.400+197G>A)
c.286G>A (p.Glu96Lys)
15g.67165285G>CCA392954291SMAD3c.118G>C (p.Glu40Gln)
c.433G>C (p.Glu145Gln)
c.301G>C (p.Glu101Gln)
n.283G>C
c.400+197G>C (n.400+197G>C)
c.286G>C (p.Glu96Gln)
15g.67165285G>TCA392954292SMAD3c.118G>T (p.Glu40Ter)
c.433G>T (p.Glu145Ter)
c.301G>T (p.Glu101Ter)
n.283G>T
c.400+197G>T (n.400+197G>T)
c.286G>T (p.Glu96Ter)
15g.67165288_67165299delCA658798394SMAD3c.121_132del (p.Ile41_Glu44del)
c.436_447del (p.Ile146_Glu149del)
c.304_315del (p.Ile102_Glu105del)
n.286_297del
c.400+200_400+211del (n.400+200_400+211del)
c.289_300del (p.Ile97_Glu100del)
 ClinVar dbSNP
15g.67165286A>CCA392954293SMAD3c.119A>C (p.Glu40Ala)
c.434A>C (p.Glu145Ala)
c.302A>C (p.Glu101Ala)
n.284A>C
c.400+198A>C (n.400+198A>C)
c.287A>C (p.Glu96Ala)
15g.67165286A>GCA392954294SMAD3c.119A>G (p.Glu40Gly)
c.434A>G (p.Glu145Gly)
c.302A>G (p.Glu101Gly)
n.284A>G
c.400+198A>G (n.400+198A>G)
c.287A>G (p.Glu96Gly)
15g.67165286A>TCA392954295SMAD3c.119A>T (p.Glu40Val)
c.434A>T (p.Glu145Val)
c.302A>T (p.Glu101Val)
n.284A>T
c.400+198A>T (n.400+198A>T)
c.287A>T (p.Glu96Val)
15g.67165287G>ACA491071711SMAD3c.120G>A (p.Glu40=)
c.435G>A (p.Glu145=)
c.303G>A (p.Glu101=)
n.285G>A
c.400+199G>A (n.400+199G>A)
c.288G>A (p.Glu96=)
 gnomAD v4
15g.67165287G>CCA392954296SMAD3c.120G>C (p.Glu40Asp)
c.435G>C (p.Glu145Asp)
c.303G>C (p.Glu101Asp)
n.285G>C
c.400+199G>C (n.400+199G>C)
c.288G>C (p.Glu96Asp)
15g.67165287G>TCA392954297SMAD3c.120G>T (p.Glu40Asp)
c.435G>T (p.Glu145Asp)
c.303G>T (p.Glu101Asp)
n.285G>T
c.400+199G>T (n.400+199G>T)
c.288G>T (p.Glu96Asp)
 gnomAD v4
15g.67165288A>CCA392954300SMAD3c.121A>C (p.Ile41Leu)
c.436A>C (p.Ile146Leu)
c.304A>C (p.Ile102Leu)
n.286A>C
c.400+200A>C (n.400+200A>C)
c.289A>C (p.Ile97Leu)
15g.67165288A>GCA392954298SMAD3c.121A>G (p.Ile41Val)
c.436A>G (p.Ile146Val)
c.304A>G (p.Ile102Val)
n.286A>G
c.400+200A>G (n.400+200A>G)
c.289A>G (p.Ile97Val)
 gnomAD v4
15g.67165288A>TCA392954299SMAD3c.121A>T (p.Ile41Phe)
c.436A>T (p.Ile146Phe)
c.304A>T (p.Ile102Phe)
n.286A>T
c.400+200A>T (n.400+200A>T)
c.289A>T (p.Ile97Phe)
15g.67165289T>ACA392954301SMAD3c.122T>A (p.Ile41Asn)
c.437T>A (p.Ile146Asn)
c.305T>A (p.Ile102Asn)
n.287T>A
c.400+201T>A (n.400+201T>A)
c.290T>A (p.Ile97Asn)
15g.67165289T>CCA392954302SMAD3c.122T>C (p.Ile41Thr)
c.437T>C (p.Ile146Thr)
c.305T>C (p.Ile102Thr)
n.287T>C
c.400+201T>C (n.400+201T>C)
c.290T>C (p.Ile97Thr)
 dbSNP
15g.67165289T>GCA392954303SMAD3c.122T>G (p.Ile41Ser)
c.437T>G (p.Ile146Ser)
c.305T>G (p.Ile102Ser)
n.287T>G
c.400+201T>G (n.400+201T>G)
c.290T>G (p.Ile97Ser)
15g.67165289T=CA2184410716SMAD3c.122T= (p.Ile41=)
c.437T= (p.Ile146=)
c.305T= (p.Ile102=)
n.287T=
c.400+201T= (n.400+201T=)
c.290T= (p.Ile97=)
15g.67165290C>ACA491071713SMAD3c.123C>A (p.Ile41=)
c.438C>A (p.Ile146=)
c.306C>A (p.Ile102=)
n.288C>A
c.400+202C>A (n.400+202C>A)
c.291C>A (p.Ile97=)
15g.67165290C>GCA392954304SMAD3c.123C>G (p.Ile41Met)
c.438C>G (p.Ile146Met)
c.306C>G (p.Ile102Met)
n.288C>G
c.400+202C>G (n.400+202C>G)
c.291C>G (p.Ile97Met)
15g.67165290C>TCA491071712SMAD3c.123C>T (p.Ile41=)
c.438C>T (p.Ile146=)
c.306C>T (p.Ile102=)
n.288C>T
c.400+202C>T (n.400+202C>T)
c.291C>T (p.Ile97=)
15g.67165291C>ACA392954305SMAD3c.124C>A (p.Pro42Thr)
c.439C>A (p.Pro147Thr)
c.307C>A (p.Pro103Thr)
n.289C>A
c.400+203C>A (n.400+203C>A)
c.292C>A (p.Pro98Thr)
15g.67165291C>GCA392954306SMAD3c.124C>G (p.Pro42Ala)
c.439C>G (p.Pro147Ala)
c.307C>G (p.Pro103Ala)
n.289C>G
c.400+203C>G (n.400+203C>G)
c.292C>G (p.Pro98Ala)
15g.67165291C>TCA392954307SMAD3c.124C>T (p.Pro42Ser)
c.439C>T (p.Pro147Ser)
c.307C>T (p.Pro103Ser)
n.289C>T
c.400+203C>T (n.400+203C>T)
c.292C>T (p.Pro98Ser)
15g.67165292C>ACA392954308SMAD3c.125C>A (p.Pro42Gln)
c.440C>A (p.Pro147Gln)
c.308C>A (p.Pro103Gln)
n.290C>A
c.400+204C>A (n.400+204C>A)
c.293C>A (p.Pro98Gln)
15g.67165292C=CA2184410718SMAD3c.125C= (p.Pro42=)
c.440C= (p.Pro147=)
c.308C= (p.Pro103=)
n.290C=
c.400+204C= (n.400+204C=)
c.293C= (p.Pro98=)
15g.67165292C>GCA392954309SMAD3c.125C>G (p.Pro42Arg)
c.440C>G (p.Pro147Arg)
c.308C>G (p.Pro103Arg)
n.290C>G
c.400+204C>G (n.400+204C>G)
c.293C>G (p.Pro98Arg)
15g.67165292C>TCA020087SMAD3c.125C>T (p.Pro42Leu)
c.440C>T (p.Pro147Leu)
c.308C>T (p.Pro103Leu)
n.290C>T
c.400+204C>T (n.400+204C>T)
c.293C>T (p.Pro98Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.67165293G>ACA062244SMAD3c.126G>A (p.Pro42=)
c.441G>A (p.Pro147=)
c.309G>A (p.Pro103=)
n.291G>A
c.400+205G>A (n.400+205G>A)
c.294G>A (p.Pro98=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.67165293G>CCA491071715SMAD3c.126G>C (p.Pro42=)
c.441G>C (p.Pro147=)
c.309G>C (p.Pro103=)
n.291G>C
c.400+205G>C (n.400+205G>C)
c.294G>C (p.Pro98=)
 dbSNP gnomAD v2 gnomAD v4
15g.67165293G=CA2184410726SMAD3c.126G= (p.Pro42=)
c.441G= (p.Pro147=)
c.309G= (p.Pro103=)
n.291G=
c.400+205G= (n.400+205G=)
c.294G= (p.Pro98=)
15g.67165293G>TCA491071714SMAD3c.126G>T (p.Pro42=)
c.441G>T (p.Pro147=)
c.309G>T (p.Pro103=)
n.291G>T
c.400+205G>T (n.400+205G>T)
c.294G>T (p.Pro98=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.67165294G>ACA392954312SMAD3c.127G>A (p.Ala43Thr)
c.442G>A (p.Ala148Thr)
c.310G>A (p.Ala104Thr)
n.292G>A
c.400+206G>A (n.400+206G>A)
c.295G>A (p.Ala99Thr)
 dbSNP
15g.67165294G>CCA392954311SMAD3c.127G>C (p.Ala43Pro)
c.442G>C (p.Ala148Pro)
c.310G>C (p.Ala104Pro)
n.292G>C
c.400+206G>C (n.400+206G>C)
c.295G>C (p.Ala99Pro)
15g.67165294G>TCA392954310SMAD3c.127G>T (p.Ala43Ser)
c.442G>T (p.Ala148Ser)
c.310G>T (p.Ala104Ser)
n.292G>T
c.400+206G>T (n.400+206G>T)
c.295G>T (p.Ala99Ser)
15g.67165295C>ACA392954313SMAD3c.128C>A (p.Ala43Asp)
c.443C>A (p.Ala148Asp)
c.311C>A (p.Ala104Asp)
n.293C>A
c.400+207C>A (n.400+207C>A)
c.296C>A (p.Ala99Asp)
 dbSNP gnomAD v4
15g.67165295C>GCA392954314SMAD3c.128C>G (p.Ala43Gly)
c.443C>G (p.Ala148Gly)
c.311C>G (p.Ala104Gly)
n.293C>G
c.400+207C>G (n.400+207C>G)
c.296C>G (p.Ala99Gly)
15g.67165295C>TCA392954315SMAD3c.128C>T (p.Ala43Val)
c.443C>T (p.Ala148Val)
c.311C>T (p.Ala104Val)
n.293C>T
c.400+207C>T (n.400+207C>T)
c.296C>T (p.Ala99Val)
 dbSNP gnomAD v4
15g.67165297_67165307delCA2573054097SMAD3c.130_140del (p.Glu44ThrfsTer13)
c.445_455del (p.Glu149ThrfsTer13)
c.313_323del (p.Glu105ThrfsTer13)
n.295_305del
c.400+209_400+219del (n.400+209_400+219del)
c.298_308del (p.Glu100ThrfsTer13)
 ClinVar dbSNP
15g.67165296C>ACA491071716SMAD3c.129C>A (p.Ala43=)
c.444C>A (p.Ala148=)
c.312C>A (p.Ala104=)
n.294C>A
c.400+208C>A (n.400+208C>A)
c.297C>A (p.Ala99=)
 gnomAD v4
15g.67165296C=CA2184410735SMAD3c.129C= (p.Ala43=)
c.444C= (p.Ala148=)
c.312C= (p.Ala104=)
n.294C=
c.400+208C= (n.400+208C=)
c.297C= (p.Ala99=)
15g.67165296C>GCA491071717SMAD3c.129C>G (p.Ala43=)
c.444C>G (p.Ala148=)
c.312C>G (p.Ala104=)
n.294C>G
c.400+208C>G (n.400+208C>G)
c.297C>G (p.Ala99=)
15g.67165296C>TCA062248SMAD3c.129C>T (p.Ala43=)
c.444C>T (p.Ala148=)
c.312C>T (p.Ala104=)
n.294C>T
c.400+208C>T (n.400+208C>T)
c.297C>T (p.Ala99=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.67165297G>ACA392954316SMAD3c.130G>A (p.Glu44Lys)
c.445G>A (p.Glu149Lys)
c.313G>A (p.Glu105Lys)
n.295G>A
c.400+209G>A (n.400+209G>A)
c.298G>A (p.Glu100Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
15g.67165297G>CCA392954317SMAD3c.130G>C (p.Glu44Gln)
c.445G>C (p.Glu149Gln)
c.313G>C (p.Glu105Gln)
n.295G>C
c.400+209G>C (n.400+209G>C)
c.298G>C (p.Glu100Gln)
15g.67165297G=CA2184410740SMAD3c.130G= (p.Glu44=)
c.445G= (p.Glu149=)
c.313G= (p.Glu105=)
n.295G=
c.400+209G= (n.400+209G=)
c.298G= (p.Glu100=)
15g.67165297G>TCA392954318SMAD3c.130G>T (p.Glu44Ter)
c.445G>T (p.Glu149Ter)
c.313G>T (p.Glu105Ter)
n.295G>T
c.400+209G>T (n.400+209G>T)
c.298G>T (p.Glu100Ter)
15g.67165298A>CCA392954321SMAD3c.131A>C (p.Glu44Ala)
c.446A>C (p.Glu149Ala)
c.314A>C (p.Glu105Ala)
n.296A>C
c.400+210A>C (n.400+210A>C)
c.299A>C (p.Glu100Ala)
15g.67165298A>GCA392954320SMAD3c.131A>G (p.Glu44Gly)
c.446A>G (p.Glu149Gly)
c.314A>G (p.Glu105Gly)
n.296A>G
c.400+210A>G (n.400+210A>G)
c.299A>G (p.Glu100Gly)
 gnomAD v4 COSMIC COSMIC
15g.67165298A>TCA392954319SMAD3c.131A>T (p.Glu44Val)
c.446A>T (p.Glu149Val)
c.314A>T (p.Glu105Val)
n.296A>T
c.400+210A>T (n.400+210A>T)
c.299A>T (p.Glu100Val)
15g.67165299G>ACA491071718SMAD3c.132G>A (p.Glu44=)
c.447G>A (p.Glu149=)
c.315G>A (p.Glu105=)
n.297G>A
c.400+211G>A (n.400+211G>A)
c.300G>A (p.Glu100=)
 ClinVar dbSNP
15g.67165299G>CCA392954322SMAD3c.132G>C (p.Glu44Asp)
c.447G>C (p.Glu149Asp)
c.315G>C (p.Glu105Asp)
n.297G>C
c.400+211G>C (n.400+211G>C)
c.300G>C (p.Glu100Asp)
15g.67165299G>TCA392954323SMAD3c.132G>T (p.Glu44Asp)
c.447G>T (p.Glu149Asp)
c.315G>T (p.Glu105Asp)
n.297G>T
c.400+211G>T (n.400+211G>T)
c.300G>T (p.Glu100Asp)
15g.67165300T>ACA392954324SMAD3c.133T>A (p.Phe45Ile)
c.448T>A (p.Phe150Ile)
c.316T>A (p.Phe106Ile)
n.298T>A
c.400+212T>A (n.400+212T>A)
c.301T>A (p.Phe101Ile)
 dbSNP gnomAD v2 gnomAD v4
15g.67165300T>CCA062250SMAD3c.133T>C (p.Phe45Leu)
c.448T>C (p.Phe150Leu)
c.316T>C (p.Phe106Leu)
n.298T>C
c.400+212T>C (n.400+212T>C)
c.301T>C (p.Phe101Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.67165300T>GCA392954325SMAD3c.133T>G (p.Phe45Val)
c.448T>G (p.Phe150Val)
c.316T>G (p.Phe106Val)
n.298T>G
c.400+212T>G (n.400+212T>G)
c.301T>G (p.Phe101Val)
 dbSNP gnomAD v4
15g.67165300T=CA2184410746SMAD3c.133T= (p.Phe45=)
c.448T= (p.Phe150=)
c.316T= (p.Phe106=)
n.298T=
c.400+212T= (n.400+212T=)
c.301T= (p.Phe101=)
15g.67165301T>ACA392954326SMAD3c.134T>A (p.Phe45Tyr)
c.449T>A (p.Phe150Tyr)
c.317T>A (p.Phe106Tyr)
n.299T>A
c.400+213T>A (n.400+213T>A)
c.302T>A (p.Phe101Tyr)
 ClinVar
15g.67165301T>CCA392954327SMAD3c.134T>C (p.Phe45Ser)
c.449T>C (p.Phe150Ser)
c.317T>C (p.Phe106Ser)
n.299T>C
c.400+213T>C (n.400+213T>C)
c.302T>C (p.Phe101Ser)
 dbSNP
15g.67165301T>GCA392954328SMAD3c.134T>G (p.Phe45Cys)
c.449T>G (p.Phe150Cys)
c.317T>G (p.Phe106Cys)
n.299T>G
c.400+213T>G (n.400+213T>G)
c.302T>G (p.Phe101Cys)
15g.67165301T=CA2184410753SMAD3c.134T= (p.Phe45=)
c.449T= (p.Phe150=)
c.317T= (p.Phe106=)
n.299T=
c.400+213T= (n.400+213T=)
c.302T= (p.Phe101=)
15g.67165301_67165302delinsTCCA2184410752SMAD3c.134_135delinsTC (p.Phe45=)
c.449_450delinsTC (p.Phe150=)
c.317_318delinsTC (p.Phe106=)
n.299_300delinsTC
c.400+213_400+214delinsTC (n.400+213_400+214delinsTC)
c.302_303delinsTC (p.Phe101=)
15g.67165302C>ACA392954330SMAD3c.135C>A (p.Phe45Leu)
c.450C>A (p.Phe150Leu)
c.318C>A (p.Phe106Leu)
n.300C>A
c.400+214C>A (n.400+214C>A)
c.303C>A (p.Phe101Leu)
15g.67165302C=CA2184410765SMAD3c.135C= (p.Phe45=)
c.450C= (p.Phe150=)
c.318C= (p.Phe106=)
n.300C=
c.400+214C= (n.400+214C=)
c.303C= (p.Phe101=)
15g.67165302C>GCA392954329SMAD3c.135C>G (p.Phe45Leu)
c.450C>G (p.Phe150Leu)
c.318C>G (p.Phe106Leu)
n.300C>G
c.400+214C>G (n.400+214C>G)
c.303C>G (p.Phe101Leu)
15g.67165302C>TCA062254SMAD3c.135C>T (p.Phe45=)
c.450C>T (p.Phe150=)
c.318C>T (p.Phe106=)
n.300C>T
c.400+214C>T (n.400+214C>T)
c.303C>T (p.Phe101=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.67165307dupCA491071720SMAD3c.140dup (p.Leu48ThrfsTer13)
c.455dup (p.Leu153ThrfsTer13)
c.323dup (p.Leu109ThrfsTer13)
n.305dup
c.400+219dup (n.400+219dup)
c.308dup (p.Leu104ThrfsTer13)
 COSMIC COSMIC
15g.67165307delCA320725SMAD3c.140del (p.Pro47HisfsTer?)
c.455del (p.Pro152HisfsTer?)
c.323del (p.Pro108HisfsTer?)
n.305del
c.400+219del (n.400+219del)
c.308del (p.Pro103HisfsTer?)
 ClinVar dbSNP
15g.67165303C>ACA392954331SMAD3c.136C>A (p.Pro46Thr)
c.451C>A (p.Pro151Thr)
c.319C>A (p.Pro107Thr)
n.301C>A
c.400+215C>A (n.400+215C>A)
c.304C>A (p.Pro102Thr)
15g.67165303C>GCA392954332SMAD3c.136C>G (p.Pro46Ala)
c.451C>G (p.Pro151Ala)
c.319C>G (p.Pro107Ala)
n.301C>G
c.400+215C>G (n.400+215C>G)
c.304C>G (p.Pro102Ala)
15g.67165303C>TCA392954333SMAD3c.136C>T (p.Pro46Ser)
c.451C>T (p.Pro151Ser)
c.319C>T (p.Pro107Ser)
n.301C>T
c.400+215C>T (n.400+215C>T)
c.304C>T (p.Pro102Ser)
 ClinVar dbSNP COSMIC COSMIC
15g.67165304C>ACA392954334SMAD3c.137C>A (p.Pro46His)
c.452C>A (p.Pro151His)
c.320C>A (p.Pro107His)
n.302C>A
c.400+216C>A (n.400+216C>A)
c.305C>A (p.Pro102His)
15g.67165304C>GCA392954335SMAD3c.137C>G (p.Pro46Arg)
c.452C>G (p.Pro151Arg)
c.320C>G (p.Pro107Arg)
n.302C>G
c.400+216C>G (n.400+216C>G)
c.305C>G (p.Pro102Arg)
15g.67165304C>TCA392954336SMAD3c.137C>T (p.Pro46Leu)
c.452C>T (p.Pro151Leu)
c.320C>T (p.Pro107Leu)
n.302C>T
c.400+216C>T (n.400+216C>T)
c.305C>T (p.Pro102Leu)
 COSMIC COSMIC
15g.67165305C>ACA491071721SMAD3c.138C>A (p.Pro46=)
c.453C>A (p.Pro151=)
c.321C>A (p.Pro107=)
n.303C>A
c.400+217C>A (n.400+217C>A)
c.306C>A (p.Pro102=)
15g.67165305C>GCA491071722SMAD3c.138C>G (p.Pro46=)
c.453C>G (p.Pro151=)
c.321C>G (p.Pro107=)
n.303C>G
c.400+217C>G (n.400+217C>G)
c.306C>G (p.Pro102=)
15g.67165305C>TCA491071723SMAD3c.138C>T (p.Pro46=)
c.453C>T (p.Pro151=)
c.321C>T (p.Pro107=)
n.303C>T
c.400+217C>T (n.400+217C>T)
c.306C>T (p.Pro102=)
 gnomAD v4 COSMIC COSMIC
15g.67165306C>ACA392954337SMAD3c.139C>A (p.Pro47Thr)
c.454C>A (p.Pro152Thr)
c.322C>A (p.Pro108Thr)
n.304C>A
c.400+218C>A (n.400+218C>A)
c.307C>A (p.Pro103Thr)
 dbSNP gnomAD v4
15g.67165306C=CA2184410770SMAD3c.139C= (p.Pro47=)
c.454C= (p.Pro152=)
c.322C= (p.Pro108=)
n.304C=
c.400+218C= (n.400+218C=)
c.307C= (p.Pro103=)
15g.67165306C>GCA392954338SMAD3c.139C>G (p.Pro47Ala)
c.454C>G (p.Pro152Ala)
c.322C>G (p.Pro108Ala)
n.304C>G
c.400+218C>G (n.400+218C>G)
c.307C>G (p.Pro103Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.67165306C>TCA392954339SMAD3c.139C>T (p.Pro47Ser)
c.454C>T (p.Pro152Ser)
c.322C>T (p.Pro108Ser)
n.304C>T
c.400+218C>T (n.400+218C>T)
c.307C>T (p.Pro103Ser)
 gnomAD v4
15g.67165307C>ACA062258SMAD3c.140C>A (p.Pro47Gln)
c.455C>A (p.Pro152Gln)
c.323C>A (p.Pro108Gln)
n.305C>A
c.400+219C>A (n.400+219C>A)
c.308C>A (p.Pro103Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.67165307C=CA2184410776SMAD3c.140C= (p.Pro47=)
c.455C= (p.Pro152=)
c.323C= (p.Pro108=)
n.305C=
c.400+219C= (n.400+219C=)
c.308C= (p.Pro103=)
15g.67165307C>GCA392954340SMAD3c.140C>G (p.Pro47Arg)
c.455C>G (p.Pro152Arg)
c.323C>G (p.Pro108Arg)
n.305C>G
c.400+219C>G (n.400+219C>G)
c.308C>G (p.Pro103Arg)
 ClinVar gnomAD v4
15g.67165307C>TCA392954341SMAD3c.140C>T (p.Pro47Leu)
c.455C>T (p.Pro152Leu)
c.323C>T (p.Pro108Leu)
n.305C>T
c.400+219C>T (n.400+219C>T)
c.308C>T (p.Pro103Leu)
 ClinVar gnomAD v4
15g.67165308A>CCA491071726SMAD3c.141A>C (p.Pro47=)
c.456A>C (p.Pro152=)
c.324A>C (p.Pro108=)
n.306A>C
c.400+220A>C (n.400+220A>C)
c.309A>C (p.Pro103=)
15g.67165308A>GCA491071724SMAD3c.141A>G (p.Pro47=)
c.456A>G (p.Pro152=)
c.324A>G (p.Pro108=)
n.306A>G
c.400+220A>G (n.400+220A>G)
c.309A>G (p.Pro103=)
15g.67165308A>TCA491071725SMAD3c.141A>T (p.Pro47=)
c.456A>T (p.Pro152=)
c.324A>T (p.Pro108=)
n.306A>T
c.400+220A>T (n.400+220A>T)
c.309A>T (p.Pro103=)
15g.67165309C>ACA392954343SMAD3c.142C>A (p.Leu48Met)
c.457C>A (p.Leu153Met)
c.325C>A (p.Leu109Met)
n.307C>A
c.400+221C>A (n.400+221C>A)
c.310C>A (p.Leu104Met)
15g.67165309C=CA2184410782SMAD3c.142C= (p.Leu48=)
c.457C= (p.Leu153=)
c.325C= (p.Leu109=)
n.307C=
c.400+221C= (n.400+221C=)
c.310C= (p.Leu104=)
15g.67165309C>GCA392954342SMAD3c.142C>G (p.Leu48Val)
c.457C>G (p.Leu153Val)
c.325C>G (p.Leu109Val)
n.307C>G
c.400+221C>G (n.400+221C>G)
c.310C>G (p.Leu104Val)
15g.67165309C>TCA062263SMAD3c.142C>T (p.Leu48=)
c.457C>T (p.Leu153=)
c.325C>T (p.Leu109=)
n.307C>T
c.400+221C>T (n.400+221C>T)
c.310C>T (p.Leu104=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.67165310T>ACA392954344SMAD3c.143T>A (p.Leu48Gln)
c.458T>A (p.Leu153Gln)
c.326T>A (p.Leu109Gln)
n.308T>A
c.400+222T>A (n.400+222T>A)
c.311T>A (p.Leu104Gln)
15g.67165310T>CCA392954345SMAD3c.143T>C (p.Leu48Pro)
c.458T>C (p.Leu153Pro)
c.326T>C (p.Leu109Pro)
n.308T>C
c.400+222T>C (n.400+222T>C)
c.311T>C (p.Leu104Pro)
 gnomAD v4
15g.67165310T>GCA392954346SMAD3c.143T>G (p.Leu48Arg)
c.458T>G (p.Leu153Arg)
c.326T>G (p.Leu109Arg)
n.308T>G
c.400+222T>G (n.400+222T>G)
c.311T>G (p.Leu104Arg)
15g.67165311G>ACA491071727SMAD3c.144G>A (p.Leu48=)
c.459G>A (p.Leu153=)
c.327G>A (p.Leu109=)
n.309G>A
c.400+223G>A (n.400+223G>A)
c.312G>A (p.Leu104=)
15g.67165311G>CCA491071728SMAD3c.144G>C (p.Leu48=)
c.459G>C (p.Leu153=)
c.327G>C (p.Leu109=)
n.309G>C
c.400+223G>C (n.400+223G>C)
c.312G>C (p.Leu104=)
15g.67165311G>TCA491071729SMAD3c.144G>T (p.Leu48=)
c.459G>T (p.Leu153=)
c.327G>T (p.Leu109=)
n.309G>T
c.400+223G>T (n.400+223G>T)
c.312G>T (p.Leu104=)
15g.67165312G>ACA392954347SMAD3c.145G>A (p.Asp49Asn)
c.460G>A (p.Asp154Asn)
c.328G>A (p.Asp110Asn)
n.310G>A
c.400+224G>A (n.400+224G>A)
c.313G>A (p.Asp105Asn)
15g.67165312G>CCA392954348SMAD3c.145G>C (p.Asp49His)
c.460G>C (p.Asp154His)
c.328G>C (p.Asp110His)
n.310G>C
c.400+224G>C (n.400+224G>C)
c.313G>C (p.Asp105His)
 dbSNP
15g.67165312G>TCA392954349SMAD3c.145G>T (p.Asp49Tyr)
c.460G>T (p.Asp154Tyr)
c.328G>T (p.Asp110Tyr)
n.310G>T
c.400+224G>T (n.400+224G>T)
c.313G>T (p.Asp105Tyr)
15g.67165313A>CCA392954350SMAD3c.146A>C (p.Asp49Ala)
c.461A>C (p.Asp154Ala)
c.329A>C (p.Asp110Ala)
n.311A>C
c.400+225A>C (n.400+225A>C)
c.314A>C (p.Asp105Ala)
15g.67165313A>GCA392954351SMAD3c.146A>G (p.Asp49Gly)
c.461A>G (p.Asp154Gly)
c.329A>G (p.Asp110Gly)
n.311A>G
c.400+225A>G (n.400+225A>G)
c.314A>G (p.Asp105Gly)
15g.67165313A>TCA392954352SMAD3c.146A>T (p.Asp49Val)
c.461A>T (p.Asp154Val)
c.329A>T (p.Asp110Val)
n.311A>T
c.400+225A>T (n.400+225A>T)
c.314A>T (p.Asp105Val)
 dbSNP
15g.67165314C>ACA392954353SMAD3c.147C>A (p.Asp49Glu)
c.462C>A (p.Asp154Glu)
c.330C>A (p.Asp110Glu)
n.312C>A
c.400+226C>A (n.400+226C>A)
c.315C>A (p.Asp105Glu)
15g.67165314C=CA2184410790SMAD3c.147C= (p.Asp49=)
c.462C= (p.Asp154=)
c.330C= (p.Asp110=)
n.312C=
c.400+226C= (n.400+226C=)
c.315C= (p.Asp105=)
15g.67165314C>GCA392954354SMAD3c.147C>G (p.Asp49Glu)
c.462C>G (p.Asp154Glu)
c.330C>G (p.Asp110Glu)
n.312C>G
c.400+226C>G (n.400+226C>G)
c.315C>G (p.Asp105Glu)
15g.67165314C>TCA062267SMAD3c.147C>T (p.Asp49=)
c.462C>T (p.Asp154=)
c.330C>T (p.Asp110=)
n.312C>T
c.400+226C>T (n.400+226C>T)
c.315C>T (p.Asp105=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.67165315G>ACA272378613SMAD3c.148G>A (p.Asp50Asn)
c.463G>A (p.Asp155Asn)
c.331G>A (p.Asp111Asn)
n.313G>A
c.400+227G>A (n.400+227G>A)
c.316G>A (p.Asp106Asn)
 ClinVar dbSNP
15g.67165315G>CCA392954355SMAD3c.148G>C (p.Asp50His)
c.463G>C (p.Asp155His)
c.331G>C (p.Asp111His)
n.313G>C
c.400+227G>C (n.400+227G>C)
c.316G>C (p.Asp106His)
15g.67165315G=CA2184410796SMAD3c.148G= (p.Asp50=)
c.463G= (p.Asp155=)
c.331G= (p.Asp111=)
n.313G=
c.400+227G= (n.400+227G=)
c.316G= (p.Asp106=)
15g.67165315G>TCA392954356SMAD3c.148G>T (p.Asp50Tyr)
c.463G>T (p.Asp155Tyr)
c.331G>T (p.Asp111Tyr)
n.313G>T
c.400+227G>T (n.400+227G>T)
c.316G>T (p.Asp106Tyr)
15g.67165316A>CCA392954357SMAD3c.149A>C (p.Asp50Ala)
c.464A>C (p.Asp155Ala)
c.332A>C (p.Asp111Ala)
n.314A>C
c.400+228A>C (n.400+228A>C)
c.317A>C (p.Asp106Ala)
15g.67165316A>GCA392954358SMAD3c.149A>G (p.Asp50Gly)
c.464A>G (p.Asp155Gly)
c.332A>G (p.Asp111Gly)
n.314A>G
c.400+228A>G (n.400+228A>G)
c.317A>G (p.Asp106Gly)
15g.67165316A>TCA392954359SMAD3c.149A>T (p.Asp50Val)
c.464A>T (p.Asp155Val)
c.332A>T (p.Asp111Val)
n.314A>T
c.400+228A>T (n.400+228A>T)
c.317A>T (p.Asp106Val)
15g.67165317C>ACA392954360SMAD3c.150C>A (p.Asp50Glu)
c.465C>A (p.Asp155Glu)
c.333C>A (p.Asp111Glu)
n.315C>A
c.400+229C>A (n.400+229C>A)
c.318C>A (p.Asp106Glu)
15g.67165317C>GCA392954361SMAD3c.150C>G (p.Asp50Glu)
c.465C>G (p.Asp155Glu)
c.333C>G (p.Asp111Glu)
n.315C>G
c.400+229C>G (n.400+229C>G)
c.318C>G (p.Asp106Glu)
15g.67165317C>TCA491071730SMAD3c.150C>T (p.Asp50=)
c.465C>T (p.Asp155=)
c.333C>T (p.Asp111=)
n.315C>T
c.400+229C>T (n.400+229C>T)
c.318C>T (p.Asp106=)
15g.67165318T>ACA392954362SMAD3c.151T>A (p.Tyr51Asn)
c.466T>A (p.Tyr156Asn)
c.334T>A (p.Tyr112Asn)
n.316T>A
c.400+230T>A (n.400+230T>A)
c.319T>A (p.Tyr107Asn)
15g.67165318T>CCA392954363SMAD3c.151T>C (p.Tyr51His)
c.466T>C (p.Tyr156His)
c.334T>C (p.Tyr112His)
n.316T>C
c.400+230T>C (n.400+230T>C)
c.319T>C (p.Tyr107His)
15g.67165318T>GCA392954364SMAD3c.151T>G (p.Tyr51Asp)
c.466T>G (p.Tyr156Asp)
c.334T>G (p.Tyr112Asp)
n.316T>G
c.400+230T>G (n.400+230T>G)
c.319T>G (p.Tyr107Asp)
15g.67165319A=CA2184410802SMAD3c.152A= (p.Tyr51=)
c.467A= (p.Tyr156=)
c.335A= (p.Tyr112=)
n.317A=
c.400+231A= (n.400+231A=)
c.320A= (p.Tyr107=)
15g.67165319A>CCA392954365SMAD3c.152A>C (p.Tyr51Ser)
c.467A>C (p.Tyr156Ser)
c.335A>C (p.Tyr112Ser)
n.317A>C
c.400+231A>C (n.400+231A>C)
c.320A>C (p.Tyr107Ser)
 dbSNP
15g.67165319A>GCA392954366SMAD3c.152A>G (p.Tyr51Cys)
c.467A>G (p.Tyr156Cys)
c.335A>G (p.Tyr112Cys)
n.317A>G
c.400+231A>G (n.400+231A>G)
c.320A>G (p.Tyr107Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.67165319A>TCA392954367SMAD3c.152A>T (p.Tyr51Phe)
c.467A>T (p.Tyr156Phe)
c.335A>T (p.Tyr112Phe)
n.317A>T
c.400+231A>T (n.400+231A>T)
c.320A>T (p.Tyr107Phe)
15g.67165320C>ACA392954369SMAD3c.153C>A (p.Tyr51Ter)
c.468C>A (p.Tyr156Ter)
c.336C>A (p.Tyr112Ter)
n.318C>A
c.400+232C>A (n.400+232C>A)
c.321C>A (p.Tyr107Ter)
15g.67165320C=CA2184410806SMAD3c.153C= (p.Tyr51=)
c.468C= (p.Tyr156=)
c.336C= (p.Tyr112=)
n.318C=
c.400+232C= (n.400+232C=)
c.321C= (p.Tyr107=)
15g.67165320C>GCA392954368SMAD3c.153C>G (p.Tyr51Ter)
c.468C>G (p.Tyr156Ter)
c.336C>G (p.Tyr112Ter)
n.318C>G
c.400+232C>G (n.400+232C>G)
c.321C>G (p.Tyr107Ter)
15g.67165320C>TCA491071731SMAD3c.153C>T (p.Tyr51=)
c.468C>T (p.Tyr156=)
c.336C>T (p.Tyr112=)
n.318C>T
c.400+232C>T (n.400+232C>T)
c.321C>T (p.Tyr107=)
 ClinVar dbSNP
15g.67165321A>CCA392954370SMAD3c.154A>C (p.Ser52Arg)
c.469A>C (p.Ser157Arg)
c.337A>C (p.Ser113Arg)
n.319A>C
c.400+233A>C (n.400+233A>C)
c.322A>C (p.Ser108Arg)
15g.67165321A>GCA392954371SMAD3c.154A>G (p.Ser52Gly)
c.469A>G (p.Ser157Gly)
c.337A>G (p.Ser113Gly)
n.319A>G
c.400+233A>G (n.400+233A>G)
c.322A>G (p.Ser108Gly)
15g.67165321A>TCA392954372SMAD3c.154A>T (p.Ser52Cys)
c.469A>T (p.Ser157Cys)
c.337A>T (p.Ser113Cys)
n.319A>T
c.400+233A>T (n.400+233A>T)
c.322A>T (p.Ser108Cys)
15g.67165322G>ACA392954373SMAD3c.155G>A (p.Ser52Asn)
c.470G>A (p.Ser157Asn)
c.338G>A (p.Ser113Asn)
n.320G>A
c.400+234G>A (n.400+234G>A)
c.323G>A (p.Ser108Asn)
 gnomAD v4
15g.67165322G>CCA392954374SMAD3c.155G>C (p.Ser52Thr)
c.470G>C (p.Ser157Thr)
c.338G>C (p.Ser113Thr)
n.320G>C
c.400+234G>C (n.400+234G>C)
c.323G>C (p.Ser108Thr)
15g.67165322G>TCA392954375SMAD3c.155G>T (p.Ser52Ile)
c.470G>T (p.Ser157Ile)
c.338G>T (p.Ser113Ile)
n.320G>T
c.400+234G>T (n.400+234G>T)
c.323G>T (p.Ser108Ile)
15g.67165323C>ACA392954376SMAD3c.156C>A (p.Ser52Arg)
c.471C>A (p.Ser157Arg)
c.339C>A (p.Ser113Arg)
n.321C>A
c.400+235C>A (n.400+235C>A)
c.324C>A (p.Ser108Arg)
 dbSNP
15g.67165323C>GCA392954377SMAD3c.156C>G (p.Ser52Arg)
c.471C>G (p.Ser157Arg)
c.339C>G (p.Ser113Arg)
n.321C>G
c.400+235C>G (n.400+235C>G)
c.324C>G (p.Ser108Arg)
 dbSNP
15g.67165323C>TCA491071732SMAD3c.156C>T (p.Ser52=)
c.471C>T (p.Ser157=)
c.339C>T (p.Ser113=)
n.321C>T
c.400+235C>T (n.400+235C>T)
c.324C>T (p.Ser108=)
 dbSNP
15g.67165324C>ACA392954378SMAD3c.157C>A (p.His53Asn)
c.472C>A (p.His158Asn)
c.340C>A (p.His114Asn)
n.322C>A
c.400+236C>A (n.400+236C>A)
c.325C>A (p.His109Asn)
 dbSNP
15g.67165324C=CA2184410809SMAD3c.157C= (p.His53=)
c.472C= (p.His158=)
c.340C= (p.His114=)
n.322C=
c.400+236C= (n.400+236C=)
c.325C= (p.His109=)
15g.67165324C>GCA392954379SMAD3c.157C>G (p.His53Asp)
c.472C>G (p.His158Asp)
c.340C>G (p.His114Asp)
n.322C>G
c.400+236C>G (n.400+236C>G)
c.325C>G (p.His109Asp)
15g.67165324C>TCA392954380SMAD3c.157C>T (p.His53Tyr)
c.472C>T (p.His158Tyr)
c.340C>T (p.His114Tyr)
n.322C>T
c.400+236C>T (n.400+236C>T)
c.325C>T (p.His109Tyr)
 dbSNP gnomAD v2 gnomAD v4
15g.67165325A=CA2184410811SMAD3c.158A= (p.His53=)
c.473A= (p.His158=)
c.341A= (p.His114=)
n.323A=
c.400+237A= (n.400+237A=)
c.326A= (p.His109=)
15g.67165325A>CCA392954381SMAD3c.158A>C (p.His53Pro)
c.473A>C (p.His158Pro)
c.341A>C (p.His114Pro)
n.323A>C
c.400+237A>C (n.400+237A>C)
c.326A>C (p.His109Pro)
15g.67165325A>GCA392954382SMAD3c.158A>G (p.His53Arg)
c.473A>G (p.His158Arg)
c.341A>G (p.His114Arg)
n.323A>G
c.400+237A>G (n.400+237A>G)
c.326A>G (p.His109Arg)
 dbSNP gnomAD v3 gnomAD v4
15g.67165325A>TCA392954383SMAD3c.158A>T (p.His53Leu)
c.473A>T (p.His158Leu)
c.341A>T (p.His114Leu)
n.323A>T
c.400+237A>T (n.400+237A>T)
c.326A>T (p.His109Leu)
 gnomAD v4
15g.67165326T>ACA392954384SMAD3c.159T>A (p.His53Gln)
c.474T>A (p.His158Gln)
c.342T>A (p.His114Gln)
n.324T>A
c.400+238T>A (n.400+238T>A)
c.327T>A (p.His109Gln)
15g.67165326T>CCA491071733SMAD3c.159T>C (p.His53=)
c.474T>C (p.His158=)
c.342T>C (p.His114=)
n.324T>C
c.400+238T>C (n.400+238T>C)
c.327T>C (p.His109=)
15g.67165326T>GCA392954385SMAD3c.159T>G (p.His53Gln)
c.474T>G (p.His158Gln)
c.342T>G (p.His114Gln)
n.324T>G
c.400+238T>G (n.400+238T>G)
c.327T>G (p.His109Gln)
15g.67165327T>ACA392954386SMAD3c.160T>A (p.Ser54Thr)
c.475T>A (p.Ser159Thr)
c.343T>A (p.Ser115Thr)
n.325T>A
c.400+239T>A (n.400+239T>A)
c.328T>A (p.Ser110Thr)
15g.67165327T>CCA392954387SMAD3c.160T>C (p.Ser54Pro)
c.475T>C (p.Ser159Pro)
c.343T>C (p.Ser115Pro)
n.325T>C
c.400+239T>C (n.400+239T>C)
c.328T>C (p.Ser110Pro)
15g.67165327T>GCA392954388SMAD3c.160T>G (p.Ser54Ala)
c.475T>G (p.Ser159Ala)
c.343T>G (p.Ser115Ala)
n.325T>G
c.400+239T>G (n.400+239T>G)
c.328T>G (p.Ser110Ala)
15g.67165328C>ACA392954389SMAD3c.161C>A (p.Ser54Tyr)
c.476C>A (p.Ser159Tyr)
c.344C>A (p.Ser115Tyr)
n.326C>A
c.400+240C>A (n.400+240C>A)
c.329C>A (p.Ser110Tyr)
15g.67165328C>GCA392954390SMAD3c.161C>G (p.Ser54Cys)
c.476C>G (p.Ser159Cys)
c.344C>G (p.Ser115Cys)
n.326C>G
c.400+240C>G (n.400+240C>G)
c.329C>G (p.Ser110Cys)
15g.67165328C>TCA392954391SMAD3c.161C>T (p.Ser54Phe)
c.476C>T (p.Ser159Phe)
c.344C>T (p.Ser115Phe)
n.326C>T
c.400+240C>T (n.400+240C>T)
c.329C>T (p.Ser110Phe)
15g.67165329C>ACA491071735SMAD3c.162C>A (p.Ser54=)
c.477C>A (p.Ser159=)
c.345C>A (p.Ser115=)
n.327C>A
c.400+241C>A (n.400+241C>A)
c.330C>A (p.Ser110=)
15g.67165329C=CA2184410814SMAD3c.162C= (p.Ser54=)
c.477C= (p.Ser159=)
c.345C= (p.Ser115=)
n.327C=
c.400+241C= (n.400+241C=)
c.330C= (p.Ser110=)
15g.67165329C>GCA491071736SMAD3c.162C>G (p.Ser54=)
c.477C>G (p.Ser159=)
c.345C>G (p.Ser115=)
n.327C>G
c.400+241C>G (n.400+241C>G)
c.330C>G (p.Ser110=)
15g.67165329C>TCA491071737SMAD3c.162C>T (p.Ser54=)
c.477C>T (p.Ser159=)
c.345C>T (p.Ser115=)
n.327C>T
c.400+241C>T (n.400+241C>T)
c.330C>T (p.Ser110=)
 dbSNP gnomAD v4
15g.67165330A>CCA392954392SMAD3c.163A>C (p.Ile55Leu)
c.478A>C (p.Ile160Leu)
c.346A>C (p.Ile116Leu)
n.328A>C
c.400+242A>C (n.400+242A>C)
c.331A>C (p.Ile111Leu)
15g.67165330A>GCA392954393SMAD3c.163A>G (p.Ile55Val)
c.478A>G (p.Ile160Val)
c.346A>G (p.Ile116Val)
n.328A>G
c.400+242A>G (n.400+242A>G)
c.331A>G (p.Ile111Val)
 gnomAD v4
15g.67165330A>TCA392954394SMAD3c.163A>T (p.Ile55Phe)
c.478A>T (p.Ile160Phe)
c.346A>T (p.Ile116Phe)
n.328A>T
c.400+242A>T (n.400+242A>T)
c.331A>T (p.Ile111Phe)
15g.67165331T>ACA392954395SMAD3c.164T>A (p.Ile55Asn)
c.479T>A (p.Ile160Asn)
c.347T>A (p.Ile116Asn)
n.329T>A
c.400+243T>A (n.400+243T>A)
c.332T>A (p.Ile111Asn)
15g.67165331T>CCA392954396SMAD3c.164T>C (p.Ile55Thr)
c.479T>C (p.Ile160Thr)
c.347T>C (p.Ile116Thr)
n.329T>C
c.400+243T>C (n.400+243T>C)
c.332T>C (p.Ile111Thr)
15g.67165331T>GCA392954397SMAD3c.164T>G (p.Ile55Ser)
c.479T>G (p.Ile160Ser)
c.347T>G (p.Ile116Ser)
n.329T>G
c.400+243T>G (n.400+243T>G)
c.332T>G (p.Ile111Ser)
15g.67165331_67165332delinsTCCA2184410817SMAD3c.164_165delinsTC (p.Ile55=)
c.479_480delinsTC (p.Ile160=)
c.347_348delinsTC (p.Ile116=)
n.329_330delinsTC
c.400+243_400+244delinsTC (n.400+243_400+244delinsTC)
c.332_333delinsTC (p.Ile111=)
15g.67165332C>ACA491071738SMAD3c.165C>A (p.Ile55=)
c.480C>A (p.Ile160=)
c.348C>A (p.Ile116=)
n.330C>A
c.400+244C>A (n.400+244C>A)
c.333C>A (p.Ile111=)
 ClinVar dbSNP gnomAD v4
15g.67165332C=CA2184410823SMAD3c.165C= (p.Ile55=)
c.480C= (p.Ile160=)
c.348C= (p.Ile116=)
n.330C=
c.400+244C= (n.400+244C=)
c.333C= (p.Ile111=)
15g.67165332C>GCA392954398SMAD3c.165C>G (p.Ile55Met)
c.480C>G (p.Ile160Met)
c.348C>G (p.Ile116Met)
n.330C>G
c.400+244C>G (n.400+244C>G)
c.333C>G (p.Ile111Met)
15g.67165332C>TCA491071739SMAD3c.165C>T (p.Ile55=)
c.480C>T (p.Ile160=)
c.348C>T (p.Ile116=)
n.330C>T
c.400+244C>T (n.400+244C>T)
c.333C>T (p.Ile111=)
 gnomAD v4
15g.67165335delCA323716SMAD3c.168del (p.Glu57LysfsTer24)
c.483del (p.Glu162LysfsTer24)
c.351del (p.Glu118LysfsTer24)
c.168del (p.Glu57LysfsTer?)
n.333del
c.400+247del (n.400+247del)
c.336del (p.Glu113LysfsTer24)
 ClinVar dbSNP
15g.67165333C>ACA392954401SMAD3c.166C>A (p.Pro56Thr)
c.481C>A (p.Pro161Thr)
c.349C>A (p.Pro117Thr)
n.331C>A
c.400+245C>A (n.400+245C>A)
c.334C>A (p.Pro112Thr)
 ClinVar
15g.67165333C>GCA392954400SMAD3c.166C>G (p.Pro56Ala)
c.481C>G (p.Pro161Ala)
c.349C>G (p.Pro117Ala)
n.331C>G
c.400+245C>G (n.400+245C>G)
c.334C>G (p.Pro112Ala)
15g.67165333C>TCA392954399SMAD3c.166C>T (p.Pro56Ser)
c.481C>T (p.Pro161Ser)
c.349C>T (p.Pro117Ser)
n.331C>T
c.400+245C>T (n.400+245C>T)
c.334C>T (p.Pro112Ser)
 ClinVar
15g.67165334_67165362dupCA2629117548SMAD3c.167_195dup (p.Glu66ProfsTer25)
c.482_510dup (p.Glu171ProfsTer25)
c.350_378dup (p.Glu127ProfsTer25)
n.332_360dup
c.400+246_400+274dup (n.400+246_400+274dup)
c.335_363dup (p.Glu122ProfsTer25)
 gnomAD v4
15g.67165334C>ACA392954404SMAD3c.167C>A (p.Pro56His)
c.482C>A (p.Pro161His)
c.350C>A (p.Pro117His)
n.332C>A
c.400+246C>A (n.400+246C>A)
c.335C>A (p.Pro112His)
 dbSNP COSMIC COSMIC
15g.67165334C>GCA392954403SMAD3c.167C>G (p.Pro56Arg)
c.482C>G (p.Pro161Arg)
c.350C>G (p.Pro117Arg)
n.332C>G
c.400+246C>G (n.400+246C>G)
c.335C>G (p.Pro112Arg)
15g.67165334C>TCA392954402SMAD3c.167C>T (p.Pro56Leu)
c.482C>T (p.Pro161Leu)
c.350C>T (p.Pro117Leu)
n.332C>T
c.400+246C>T (n.400+246C>T)
c.335C>T (p.Pro112Leu)
 COSMIC COSMIC
15g.67165335C>ACA491071740SMAD3c.168C>A (p.Pro56=)
c.483C>A (p.Pro161=)
c.351C>A (p.Pro117=)
n.333C>A
c.400+247C>A (n.400+247C>A)
c.336C>A (p.Pro112=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.67165335C=CA2184410830SMAD3c.168C= (p.Pro56=)
c.483C= (p.Pro161=)
c.351C= (p.Pro117=)
n.333C=
c.400+247C= (n.400+247C=)
c.336C= (p.Pro112=)
15g.67165335C>GCA491071741SMAD3c.168C>G (p.Pro56=)
c.483C>G (p.Pro161=)
c.351C>G (p.Pro117=)
n.333C>G
c.400+247C>G (n.400+247C>G)
c.336C>G (p.Pro112=)
 gnomAD v4
15g.67165335C>TCA062275SMAD3c.168C>T (p.Pro56=)
c.483C>T (p.Pro161=)
c.351C>T (p.Pro117=)
n.333C>T
c.400+247C>T (n.400+247C>T)
c.336C>T (p.Pro112=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.67165336G>ACA062278SMAD3c.169G>A (p.Glu57Lys)
c.484G>A (p.Glu162Lys)
c.352G>A (p.Glu118Lys)
n.334G>A
c.400+248G>A (n.400+248G>A)
c.337G>A (p.Glu113Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
15g.67165336G>CCA392954405SMAD3c.169G>C (p.Glu57Gln)
c.484G>C (p.Glu162Gln)
c.352G>C (p.Glu118Gln)
n.334G>C
c.400+248G>C (n.400+248G>C)
c.337G>C (p.Glu113Gln)
 dbSNP
15g.67165336G=CA2184410842SMAD3c.169G= (p.Glu57=)
c.484G= (p.Glu162=)
c.352G= (p.Glu118=)
n.334G=
c.400+248G= (n.400+248G=)
c.337G= (p.Glu113=)
15g.67165336G>TCA392954406SMAD3c.169G>T (p.Glu57Ter)
c.484G>T (p.Glu162Ter)
c.352G>T (p.Glu118Ter)
n.334G>T
c.400+248G>T (n.400+248G>T)
c.337G>T (p.Glu113Ter)
15g.67165337A>CCA392954407SMAD3c.170A>C (p.Glu57Ala)
c.485A>C (p.Glu162Ala)
c.353A>C (p.Glu118Ala)
n.335A>C
c.400+249A>C (n.400+249A>C)
c.338A>C (p.Glu113Ala)
15g.67165337A>GCA392954408SMAD3c.170A>G (p.Glu57Gly)
c.485A>G (p.Glu162Gly)
c.353A>G (p.Glu118Gly)
n.335A>G
c.400+249A>G (n.400+249A>G)
c.338A>G (p.Glu113Gly)
15g.67165337A>TCA392954409SMAD3c.170A>T (p.Glu57Val)
c.485A>T (p.Glu162Val)
c.353A>T (p.Glu118Val)
n.335A>T
c.400+249A>T (n.400+249A>T)
c.338A>T (p.Glu113Val)
15g.67165338A>CCA392954410SMAD3c.171A>C (p.Glu57Asp)
c.486A>C (p.Glu162Asp)
c.354A>C (p.Glu118Asp)
n.336A>C
c.400+250A>C (n.400+250A>C)
c.339A>C (p.Glu113Asp)
15g.67165338A>GCA491071742SMAD3c.171A>G (p.Glu57=)
c.486A>G (p.Glu162=)
c.354A>G (p.Glu118=)
n.336A>G
c.400+250A>G (n.400+250A>G)
c.339A>G (p.Glu113=)
15g.67165338A>TCA392954411SMAD3c.171A>T (p.Glu57Asp)
c.486A>T (p.Glu162Asp)
c.354A>T (p.Glu118Asp)
n.336A>T
c.400+250A>T (n.400+250A>T)
c.339A>T (p.Glu113Asp)
15g.67165339A>CCA392954412SMAD3c.172A>C (p.Asn58His)
c.487A>C (p.Asn163His)
c.355A>C (p.Asn119His)
n.337A>C
c.400+251A>C (n.400+251A>C)
c.340A>C (p.Asn114His)
15g.67165339A>GCA392954414SMAD3c.172A>G (p.Asn58Asp)
c.487A>G (p.Asn163Asp)
c.355A>G (p.Asn119Asp)
n.337A>G
c.400+251A>G (n.400+251A>G)
c.340A>G (p.Asn114Asp)
15g.67165339A>TCA392954413SMAD3c.172A>T (p.Asn58Tyr)
c.487A>T (p.Asn163Tyr)
c.355A>T (p.Asn119Tyr)
n.337A>T
c.400+251A>T (n.400+251A>T)
c.340A>T (p.Asn114Tyr)
15g.67165340A>CCA392954415SMAD3c.173A>C (p.Asn58Thr)
c.488A>C (p.Asn163Thr)
c.356A>C (p.Asn119Thr)
n.338A>C
c.400+252A>C (n.400+252A>C)
c.341A>C (p.Asn114Thr)
15g.67165340A>GCA392954416SMAD3c.173A>G (p.Asn58Ser)
c.488A>G (p.Asn163Ser)
c.356A>G (p.Asn119Ser)
n.338A>G
c.400+252A>G (n.400+252A>G)
c.341A>G (p.Asn114Ser)
15g.67165340A>TCA392954417SMAD3c.173A>T (p.Asn58Ile)
c.488A>T (p.Asn163Ile)
c.356A>T (p.Asn119Ile)
n.338A>T
c.400+252A>T (n.400+252A>T)
c.341A>T (p.Asn114Ile)
15g.67165341C>ACA392954418SMAD3c.174C>A (p.Asn58Lys)
c.489C>A (p.Asn163Lys)
c.357C>A (p.Asn119Lys)
n.339C>A
c.400+253C>A (n.400+253C>A)
c.342C>A (p.Asn114Lys)
15g.67165341C>GCA392954419SMAD3c.174C>G (p.Asn58Lys)
c.489C>G (p.Asn163Lys)
c.357C>G (p.Asn119Lys)
n.339C>G
c.400+253C>G (n.400+253C>G)
c.342C>G (p.Asn114Lys)
15g.67165341C>TCA491071743SMAD3c.174C>T (p.Asn58=)
c.489C>T (p.Asn163=)
c.357C>T (p.Asn119=)
n.339C>T
c.400+253C>T (n.400+253C>T)
c.342C>T (p.Asn114=)
15g.67165341_67165345delinsCACTACA2184410846SMAD3c.174_178delinsCACTA (p.Asn58=)
c.489_493delinsCACTA (p.Asn163=)
c.357_361delinsCACTA (p.Asn119=)
n.339_343delinsCACTA
c.400+253_400+257delinsCACTA (n.400+253_400+257delinsCACTA)
c.342_346delinsCACTA (p.Asn114=)
15g.67165342A=CA2184410853SMAD3c.175A= (p.Thr59=)
c.490A= (p.Thr164=)
c.358A= (p.Thr120=)
n.340A=
c.400+254A= (n.400+254A=)
c.343A= (p.Thr115=)
15g.67165342A>CCA392954420SMAD3c.175A>C (p.Thr59Pro)
c.490A>C (p.Thr164Pro)
c.358A>C (p.Thr120Pro)
n.340A>C
c.400+254A>C (n.400+254A>C)
c.343A>C (p.Thr115Pro)
15g.67165342A>GCA392954422SMAD3c.175A>G (p.Thr59Ala)
c.490A>G (p.Thr164Ala)
c.358A>G (p.Thr120Ala)
n.340A>G
c.400+254A>G (n.400+254A>G)
c.343A>G (p.Thr115Ala)
 ClinVar gnomAD v4
15g.67165342A>TCA392954421SMAD3c.175A>T (p.Thr59Ser)
c.490A>T (p.Thr164Ser)
c.358A>T (p.Thr120Ser)
n.340A>T
c.400+254A>T (n.400+254A>T)
c.343A>T (p.Thr115Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.67165345_67165348delCA919580154SMAD3c.178_181del (p.Asn60SerfsTer20)
c.493_496del (p.Asn165SerfsTer20)
c.361_364del (p.Asn121SerfsTer20)
c.178_181del (p.Asn60SerfsTer?)
n.343_346del
c.400+257_400+260del (n.400+257_400+260del)
c.346_349del (p.Asn116SerfsTer20)
 dbSNP

Number of alleles fetched