Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.67165247G>A | CA323805 | SMAD3 | c.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 |
15 | g.67165247G>C | CA062207 | SMAD3 | c.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 |
15 | g.67165247G= | CA2184410584 | SMAD3 | c.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=) | |
15 | g.67165248G>A | CA2629117547 | SMAD3 | c.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 |
15 | g.67165248G>C | CA2731025244 | SMAD3 | c.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 |
15 | g.67165249A>G | CA2575767825 | SMAD3 | c.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 |
15 | g.67165251A>C | CA392954223 | SMAD3 | c.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) | |
15 | g.67165251A>G | CA392954224 | SMAD3 | c.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) | |
15 | g.67165251A>T | CA392954225 | SMAD3 | c.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) | |
15 | g.67165252G>A | CA16622073 | SMAD3 | c.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) | |
15 | g.67165252G>C | CA392954227 | SMAD3 | c.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) | |
15 | g.67165252G>T | CA392954226 | SMAD3 | c.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) | |
15 | g.67165253T>A | CA392954228 | SMAD3 | c.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) | |
15 | g.67165253T>C | CA321543 | SMAD3 | c.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 |
15 | g.67165253T>G | CA392954229 | SMAD3 | c.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) | |
15 | g.67165253T= | CA2184410593 | SMAD3 | c.86T= (p.Val29=) c.401T= (p.Val134=) c.269T= (p.Val90=) n.251T= c.400+165T= (n.400+165T=) c.254T= (p.Val85=) | |
15 | g.67165253_67165257dup | CA658820889 | SMAD3 | c.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?) | |
15 | g.67165254T>A | CA491071682 | SMAD3 | c.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=) | |
15 | g.67165254T>C | CA491071683 | SMAD3 | c.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=) | |
15 | g.67165254T>G | CA491071684 | SMAD3 | c.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=) | |
15 | g.67165255C>A | CA392954230 | SMAD3 | c.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) | |
15 | g.67165255C>G | CA392954231 | SMAD3 | c.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) | |
15 | g.67165255C>T | CA491071685 | SMAD3 | c.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=) | |
15 | g.67165256T>A | CA392954234 | SMAD3 | c.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) | |
15 | g.67165256T>C | CA392954233 | SMAD3 | c.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 |
15 | g.67165256T>G | CA392954232 | SMAD3 | c.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) | |
15 | g.67165256T= | CA2184410597 | SMAD3 | c.89T= (p.Leu30=) c.404T= (p.Leu135=) c.272T= (p.Leu91=) n.254T= c.400+168T= (n.400+168T=) c.257T= (p.Leu86=) | |
15 | g.67165257A= | CA2184410601 | SMAD3 | c.90A= (p.Leu30=) c.405A= (p.Leu135=) c.273A= (p.Leu91=) n.255A= c.400+169A= (n.400+169A=) c.258A= (p.Leu86=) | |
15 | g.67165257A>C | CA491071686 | SMAD3 | c.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 |
15 | g.67165257A>G | CA491071687 | SMAD3 | c.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=) | |
15 | g.67165257A>T | CA491071688 | SMAD3 | c.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 |
15 | g.67165258C>A | CA392954235 | SMAD3 | c.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) | |
15 | g.67165258C>G | CA392954236 | SMAD3 | c.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) | |
15 | g.67165258C>T | CA392954237 | SMAD3 | c.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) | |
15 | g.67165259C>A | CA392954238 | SMAD3 | c.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) | |
15 | g.67165259C>G | CA392954239 | SMAD3 | c.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) | |
15 | g.67165259C>T | CA392954240 | SMAD3 | c.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) | |
15 | g.67165260T>A | CA491071689 | SMAD3 | c.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=) | |
15 | g.67165260T>C | CA491071691 | SMAD3 | c.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 |
15 | g.67165260T>G | CA491071690 | SMAD3 | c.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 |
15 | g.67165260T= | CA2184410605 | SMAD3 | c.93T= (p.Pro31=) c.408T= (p.Pro136=) c.276T= (p.Pro92=) n.258T= c.400+172T= (n.400+172T=) c.261T= (p.Pro87=) | |
15 | g.67165261C>A | CA392954243 | SMAD3 | c.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) | |
15 | g.67165261C>G | CA392954241 | SMAD3 | c.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) | |
15 | g.67165261C>T | CA392954242 | SMAD3 | c.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) | |
15 | g.67165262C>A | CA392954244 | SMAD3 | c.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) | |
15 | g.67165262C>G | CA392954245 | SMAD3 | c.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) | |
15 | g.67165262C>T | CA392954246 | SMAD3 | c.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) | |
15 | g.67165263T>A | CA491071692 | SMAD3 | c.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 |
15 | g.67165263T>C | CA491071694 | SMAD3 | c.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=) | |
15 | g.67165263T>G | CA491071693 | SMAD3 | c.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=) | |
15 | g.67165264G>A | CA392954247 | SMAD3 | c.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 |
15 | g.67165264G>C | CA392954248 | SMAD3 | c.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) | |
15 | g.67165264G= | CA2184410613 | SMAD3 | c.97G= (p.Val33=) c.412G= (p.Val138=) c.280G= (p.Val94=) n.262G= c.400+176G= (n.400+176G=) c.265G= (p.Val89=) | |
15 | g.67165264G>T | CA392954249 | SMAD3 | c.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) | |
15 | g.67165265T>A | CA392954250 | SMAD3 | c.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) | |
15 | g.67165265T>C | CA392954251 | SMAD3 | c.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) | |
15 | g.67165265T>G | CA392954252 | SMAD3 | c.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) | |
15 | g.67165266G>A | CA062221 | SMAD3 | c.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 |
15 | g.67165266G>C | CA491071695 | SMAD3 | c.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 |
15 | g.67165266G= | CA2184410617 | SMAD3 | c.99G= (p.Val33=) c.414G= (p.Val138=) c.282G= (p.Val94=) n.264G= c.400+178G= (n.400+178G=) c.267G= (p.Val89=) | |
15 | g.67165266G>T | CA491071696 | SMAD3 | c.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=) | |
15 | g.67165267T>A | CA392954253 | SMAD3 | c.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) | |
15 | g.67165267T>C | CA491071697 | SMAD3 | c.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 |
15 | g.67165267T>G | CA392954254 | SMAD3 | c.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) | |
15 | g.67165268T>A | CA392954255 | SMAD3 | c.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) | |
15 | g.67165268T>C | CA392954257 | SMAD3 | c.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) | |
15 | g.67165268T>G | CA392954256 | SMAD3 | c.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) | |
15 | g.67165269G>A | CA491071698 | SMAD3 | c.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=) | |
15 | g.67165269G>C | CA062226 | SMAD3 | c.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 |
15 | g.67165269G= | CA2184410626 | SMAD3 | c.102G= (p.Leu34=) c.417G= (p.Leu139=) c.285G= (p.Leu95=) n.267G= c.400+181G= (n.400+181G=) c.270G= (p.Leu90=) | |
15 | g.67165269G>T | CA392954258 | SMAD3 | c.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) | |
15 | g.67165270G>A | CA392954259 | SMAD3 | c.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) | |
15 | g.67165270G>C | CA392954260 | SMAD3 | c.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) | |
15 | g.67165270G= | CA2184410629 | SMAD3 | c.103G= (p.Val35=) c.418G= (p.Val140=) c.286G= (p.Val96=) n.268G= c.400+182G= (n.400+182G=) c.271G= (p.Val91=) | |
15 | g.67165270G>T | CA392954261 | SMAD3 | c.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 |
15 | g.67165271T>A | CA392954262 | SMAD3 | c.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) | |
15 | g.67165271T>C | CA392954263 | SMAD3 | c.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 |
15 | g.67165271T>G | CA392954264 | SMAD3 | c.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) | |
15 | g.67165272G>A | CA491071699 | SMAD3 | c.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 |
15 | g.67165272G>C | CA491071700 | SMAD3 | c.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=) | |
15 | g.67165272G= | CA2184410631 | SMAD3 | c.105G= (p.Val35=) c.420G= (p.Val140=) c.288G= (p.Val96=) n.270G= c.400+184G= (n.400+184G=) c.273G= (p.Val91=) | |
15 | g.67165272G>T | CA491071701 | SMAD3 | c.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=) | |
15 | g.67165273C>A | CA392954265 | SMAD3 | c.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) | |
15 | g.67165273C>G | CA392954266 | SMAD3 | c.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) | |
15 | g.67165273C>T | CA392954267 | SMAD3 | c.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 |
15 | g.67165274C>A | CA392954270 | SMAD3 | c.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) | |
15 | g.67165274C>G | CA392954269 | SMAD3 | c.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) | |
15 | g.67165274C>T | CA392954268 | SMAD3 | c.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) | |
15 | g.67165275A>C | CA491071703 | SMAD3 | c.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=) | |
15 | g.67165275A>G | CA491071704 | SMAD3 | c.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=) | |
15 | g.67165275A>T | CA491071705 | SMAD3 | c.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=) | |
15 | g.67165276C>A | CA392954271 | SMAD3 | c.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) | |
15 | g.67165276C= | CA2184410635 | SMAD3 | c.109C= (p.Arg37=) c.424C= (p.Arg142=) c.292C= (p.Arg98=) n.274C= c.400+188C= (n.400+188C=) c.277C= (p.Arg93=) | |
15 | g.67165276C>G | CA392954272 | SMAD3 | c.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) | |
15 | g.67165276C>T | CA392954273 | SMAD3 | c.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 |
15 | g.67165277G>A | CA392954274 | SMAD3 | c.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 |
15 | g.67165277G>C | CA392954275 | SMAD3 | c.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) | |
15 | g.67165277G= | CA2184410640 | SMAD3 | c.110G= (p.Arg37=) c.425G= (p.Arg142=) c.293G= (p.Arg98=) n.275G= c.400+189G= (n.400+189G=) c.278G= (p.Arg93=) | |
15 | g.67165277G>T | CA392954276 | SMAD3 | c.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) | |
15 | g.67165277_67165282delinsGCCACA | CA2184410638 | SMAD3 | c.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=) | |
15 | g.67165278C>A | CA491071706 | SMAD3 | c.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 |
15 | g.67165278C= | CA2184410647 | SMAD3 | c.111C= (p.Arg37=) c.426C= (p.Arg142=) c.294C= (p.Arg98=) n.276C= c.400+190C= (n.400+190C=) c.279C= (p.Arg93=) | |
15 | g.67165278C>G | CA062232 | SMAD3 | c.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 |
15 | g.67165278C>T | CA491071707 | SMAD3 | c.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=) | |
15 | g.67165279_67165283del | CA16614888 | SMAD3 | c.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 |
15 | g.67165279C>A | CA392954277 | SMAD3 | c.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) | |
15 | g.67165279C>G | CA392954278 | SMAD3 | c.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) | |
15 | g.67165279C>T | CA392954279 | SMAD3 | c.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) | |
15 | g.67165283_67165284del | CA2580613861 | SMAD3 | c.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 |
15 | g.67165280A>C | CA392954280 | SMAD3 | c.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) | |
15 | g.67165280A>G | CA392954281 | SMAD3 | c.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) | |
15 | g.67165280A>T | CA392954282 | SMAD3 | c.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) | |
15 | g.67165281C>A | CA272378612 | SMAD3 | c.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 |
15 | g.67165281C= | CA2184410660 | SMAD3 | c.114C= (p.His38=) c.429C= (p.His143=) c.297C= (p.His99=) n.279C= c.400+193C= (n.400+193C=) c.282C= (p.His94=) | |
15 | g.67165281C>G | CA392954283 | SMAD3 | c.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) | |
15 | g.67165281C>T | CA491071708 | SMAD3 | c.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=) | |
15 | g.67165282A= | CA2184410694 | SMAD3 | c.115A= (p.Thr39=) c.430A= (p.Thr144=) c.298A= (p.Thr100=) n.280A= c.400+194A= (n.400+194A=) c.283A= (p.Thr95=) | |
15 | g.67165282A>C | CA392954284 | SMAD3 | c.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) | |
15 | g.67165282A>G | CA392954286 | SMAD3 | c.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 |
15 | g.67165282A>T | CA392954285 | SMAD3 | c.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) | |
15 | g.67165283C>A | CA392954287 | SMAD3 | c.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) | |
15 | g.67165283C= | CA2184410697 | SMAD3 | c.116C= (p.Thr39=) c.431C= (p.Thr144=) c.299C= (p.Thr100=) n.281C= c.400+195C= (n.400+195C=) c.284C= (p.Thr95=) | |
15 | g.67165283C>G | CA392954288 | SMAD3 | c.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) | |
15 | g.67165283C>T | CA392954289 | SMAD3 | c.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 |
15 | g.67165284A= | CA2184410701 | SMAD3 | c.117A= (p.Thr39=) c.432A= (p.Thr144=) c.300A= (p.Thr100=) n.282A= c.400+196A= (n.400+196A=) c.285A= (p.Thr95=) | |
15 | g.67165284A>C | CA491071710 | SMAD3 | c.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=) | |
15 | g.67165284A>G | CA062237 | SMAD3 | c.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 |
15 | g.67165284A>T | CA491071709 | SMAD3 | c.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=) | |
15 | g.67165287_67165288del | CA2580613862 | SMAD3 | c.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 |
15 | g.67165284_67165296delinsAGAGATCCCGGCC | CA2184410702 | SMAD3 | c.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=) | |
15 | g.67165285G>A | CA392954290 | SMAD3 | c.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) | |
15 | g.67165285G>C | CA392954291 | SMAD3 | c.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) | |
15 | g.67165285G>T | CA392954292 | SMAD3 | c.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) | |
15 | g.67165288_67165299del | CA658798394 | SMAD3 | c.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 |
15 | g.67165286A>C | CA392954293 | SMAD3 | c.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) | |
15 | g.67165286A>G | CA392954294 | SMAD3 | c.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) | |
15 | g.67165286A>T | CA392954295 | SMAD3 | c.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) | |
15 | g.67165287G>A | CA491071711 | SMAD3 | c.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 |
15 | g.67165287G>C | CA392954296 | SMAD3 | c.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) | |
15 | g.67165287G>T | CA392954297 | SMAD3 | c.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 |
15 | g.67165288A>C | CA392954300 | SMAD3 | c.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) | |
15 | g.67165288A>G | CA392954298 | SMAD3 | c.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 |
15 | g.67165288A>T | CA392954299 | SMAD3 | c.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) | |
15 | g.67165289T>A | CA392954301 | SMAD3 | c.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) | |
15 | g.67165289T>C | CA392954302 | SMAD3 | c.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 |
15 | g.67165289T>G | CA392954303 | SMAD3 | c.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) | |
15 | g.67165289T= | CA2184410716 | SMAD3 | c.122T= (p.Ile41=) c.437T= (p.Ile146=) c.305T= (p.Ile102=) n.287T= c.400+201T= (n.400+201T=) c.290T= (p.Ile97=) | |
15 | g.67165290C>A | CA491071713 | SMAD3 | c.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=) | |
15 | g.67165290C>G | CA392954304 | SMAD3 | c.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) | |
15 | g.67165290C>T | CA491071712 | SMAD3 | c.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=) | |
15 | g.67165291C>A | CA392954305 | SMAD3 | c.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) | |
15 | g.67165291C>G | CA392954306 | SMAD3 | c.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) | |
15 | g.67165291C>T | CA392954307 | SMAD3 | c.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) | |
15 | g.67165292C>A | CA392954308 | SMAD3 | c.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) | |
15 | g.67165292C= | CA2184410718 | SMAD3 | c.125C= (p.Pro42=) c.440C= (p.Pro147=) c.308C= (p.Pro103=) n.290C= c.400+204C= (n.400+204C=) c.293C= (p.Pro98=) | |
15 | g.67165292C>G | CA392954309 | SMAD3 | c.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) | |
15 | g.67165292C>T | CA020087 | SMAD3 | c.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 |
15 | g.67165293G>A | CA062244 | SMAD3 | c.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 |
15 | g.67165293G>C | CA491071715 | SMAD3 | c.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 |
15 | g.67165293G= | CA2184410726 | SMAD3 | c.126G= (p.Pro42=) c.441G= (p.Pro147=) c.309G= (p.Pro103=) n.291G= c.400+205G= (n.400+205G=) c.294G= (p.Pro98=) | |
15 | g.67165293G>T | CA491071714 | SMAD3 | c.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 |
15 | g.67165294G>A | CA392954312 | SMAD3 | c.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 |
15 | g.67165294G>C | CA392954311 | SMAD3 | c.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) | |
15 | g.67165294G>T | CA392954310 | SMAD3 | c.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) | |
15 | g.67165295C>A | CA392954313 | SMAD3 | c.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 |
15 | g.67165295C>G | CA392954314 | SMAD3 | c.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) | |
15 | g.67165295C>T | CA392954315 | SMAD3 | c.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 |
15 | g.67165297_67165307del | CA2573054097 | SMAD3 | c.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 |
15 | g.67165296C>A | CA491071716 | SMAD3 | c.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 |
15 | g.67165296C= | CA2184410735 | SMAD3 | c.129C= (p.Ala43=) c.444C= (p.Ala148=) c.312C= (p.Ala104=) n.294C= c.400+208C= (n.400+208C=) c.297C= (p.Ala99=) | |
15 | g.67165296C>G | CA491071717 | SMAD3 | c.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=) | |
15 | g.67165296C>T | CA062248 | SMAD3 | c.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 |
15 | g.67165297G>A | CA392954316 | SMAD3 | c.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 |
15 | g.67165297G>C | CA392954317 | SMAD3 | c.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) | |
15 | g.67165297G= | CA2184410740 | SMAD3 | c.130G= (p.Glu44=) c.445G= (p.Glu149=) c.313G= (p.Glu105=) n.295G= c.400+209G= (n.400+209G=) c.298G= (p.Glu100=) | |
15 | g.67165297G>T | CA392954318 | SMAD3 | c.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) | |
15 | g.67165298A>C | CA392954321 | SMAD3 | c.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) | |
15 | g.67165298A>G | CA392954320 | SMAD3 | c.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 |
15 | g.67165298A>T | CA392954319 | SMAD3 | c.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) | |
15 | g.67165299G>A | CA491071718 | SMAD3 | c.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 |
15 | g.67165299G>C | CA392954322 | SMAD3 | c.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) | |
15 | g.67165299G>T | CA392954323 | SMAD3 | c.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) | |
15 | g.67165300T>A | CA392954324 | SMAD3 | c.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 |
15 | g.67165300T>C | CA062250 | SMAD3 | c.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 |
15 | g.67165300T>G | CA392954325 | SMAD3 | c.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 |
15 | g.67165300T= | CA2184410746 | SMAD3 | c.133T= (p.Phe45=) c.448T= (p.Phe150=) c.316T= (p.Phe106=) n.298T= c.400+212T= (n.400+212T=) c.301T= (p.Phe101=) | |
15 | g.67165301T>A | CA392954326 | SMAD3 | c.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 |
15 | g.67165301T>C | CA392954327 | SMAD3 | c.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 |
15 | g.67165301T>G | CA392954328 | SMAD3 | c.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) | |
15 | g.67165301T= | CA2184410753 | SMAD3 | c.134T= (p.Phe45=) c.449T= (p.Phe150=) c.317T= (p.Phe106=) n.299T= c.400+213T= (n.400+213T=) c.302T= (p.Phe101=) | |
15 | g.67165301_67165302delinsTC | CA2184410752 | SMAD3 | c.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=) | |
15 | g.67165302C>A | CA392954330 | SMAD3 | c.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) | |
15 | g.67165302C= | CA2184410765 | SMAD3 | c.135C= (p.Phe45=) c.450C= (p.Phe150=) c.318C= (p.Phe106=) n.300C= c.400+214C= (n.400+214C=) c.303C= (p.Phe101=) | |
15 | g.67165302C>G | CA392954329 | SMAD3 | c.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) | |
15 | g.67165302C>T | CA062254 | SMAD3 | c.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 |
15 | g.67165307dup | CA491071720 | SMAD3 | c.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 |
15 | g.67165307del | CA320725 | SMAD3 | c.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 |
15 | g.67165303C>A | CA392954331 | SMAD3 | c.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) | |
15 | g.67165303C>G | CA392954332 | SMAD3 | c.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) | |
15 | g.67165303C>T | CA392954333 | SMAD3 | c.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 |
15 | g.67165304C>A | CA392954334 | SMAD3 | c.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) | |
15 | g.67165304C>G | CA392954335 | SMAD3 | c.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) | |
15 | g.67165304C>T | CA392954336 | SMAD3 | c.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 |
15 | g.67165305C>A | CA491071721 | SMAD3 | c.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=) | |
15 | g.67165305C>G | CA491071722 | SMAD3 | c.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=) | |
15 | g.67165305C>T | CA491071723 | SMAD3 | c.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 |
15 | g.67165306C>A | CA392954337 | SMAD3 | c.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 |
15 | g.67165306C= | CA2184410770 | SMAD3 | c.139C= (p.Pro47=) c.454C= (p.Pro152=) c.322C= (p.Pro108=) n.304C= c.400+218C= (n.400+218C=) c.307C= (p.Pro103=) | |
15 | g.67165306C>G | CA392954338 | SMAD3 | c.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 |
15 | g.67165306C>T | CA392954339 | SMAD3 | c.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 |
15 | g.67165307C>A | CA062258 | SMAD3 | c.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 |
15 | g.67165307C= | CA2184410776 | SMAD3 | c.140C= (p.Pro47=) c.455C= (p.Pro152=) c.323C= (p.Pro108=) n.305C= c.400+219C= (n.400+219C=) c.308C= (p.Pro103=) | |
15 | g.67165307C>G | CA392954340 | SMAD3 | c.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 |
15 | g.67165307C>T | CA392954341 | SMAD3 | c.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 |
15 | g.67165308A>C | CA491071726 | SMAD3 | c.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=) | |
15 | g.67165308A>G | CA491071724 | SMAD3 | c.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=) | |
15 | g.67165308A>T | CA491071725 | SMAD3 | c.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=) | |
15 | g.67165309C>A | CA392954343 | SMAD3 | c.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) | |
15 | g.67165309C= | CA2184410782 | SMAD3 | c.142C= (p.Leu48=) c.457C= (p.Leu153=) c.325C= (p.Leu109=) n.307C= c.400+221C= (n.400+221C=) c.310C= (p.Leu104=) | |
15 | g.67165309C>G | CA392954342 | SMAD3 | c.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) | |
15 | g.67165309C>T | CA062263 | SMAD3 | c.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 |
15 | g.67165310T>A | CA392954344 | SMAD3 | c.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) | |
15 | g.67165310T>C | CA392954345 | SMAD3 | c.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 |
15 | g.67165310T>G | CA392954346 | SMAD3 | c.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) | |
15 | g.67165311G>A | CA491071727 | SMAD3 | c.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=) | |
15 | g.67165311G>C | CA491071728 | SMAD3 | c.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=) | |
15 | g.67165311G>T | CA491071729 | SMAD3 | c.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=) | |
15 | g.67165312G>A | CA392954347 | SMAD3 | c.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) | |
15 | g.67165312G>C | CA392954348 | SMAD3 | c.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 |
15 | g.67165312G>T | CA392954349 | SMAD3 | c.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) | |
15 | g.67165313A>C | CA392954350 | SMAD3 | c.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) | |
15 | g.67165313A>G | CA392954351 | SMAD3 | c.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) | |
15 | g.67165313A>T | CA392954352 | SMAD3 | c.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 |
15 | g.67165314C>A | CA392954353 | SMAD3 | c.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) | |
15 | g.67165314C= | CA2184410790 | SMAD3 | c.147C= (p.Asp49=) c.462C= (p.Asp154=) c.330C= (p.Asp110=) n.312C= c.400+226C= (n.400+226C=) c.315C= (p.Asp105=) | |
15 | g.67165314C>G | CA392954354 | SMAD3 | c.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) | |
15 | g.67165314C>T | CA062267 | SMAD3 | c.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 |
15 | g.67165315G>A | CA272378613 | SMAD3 | c.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 |
15 | g.67165315G>C | CA392954355 | SMAD3 | c.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) | |
15 | g.67165315G= | CA2184410796 | SMAD3 | c.148G= (p.Asp50=) c.463G= (p.Asp155=) c.331G= (p.Asp111=) n.313G= c.400+227G= (n.400+227G=) c.316G= (p.Asp106=) | |
15 | g.67165315G>T | CA392954356 | SMAD3 | c.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) | |
15 | g.67165316A>C | CA392954357 | SMAD3 | c.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) | |
15 | g.67165316A>G | CA392954358 | SMAD3 | c.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) | |
15 | g.67165316A>T | CA392954359 | SMAD3 | c.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) | |
15 | g.67165317C>A | CA392954360 | SMAD3 | c.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) | |
15 | g.67165317C>G | CA392954361 | SMAD3 | c.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) | |
15 | g.67165317C>T | CA491071730 | SMAD3 | c.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=) | |
15 | g.67165318T>A | CA392954362 | SMAD3 | c.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) | |
15 | g.67165318T>C | CA392954363 | SMAD3 | c.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) | |
15 | g.67165318T>G | CA392954364 | SMAD3 | c.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) | |
15 | g.67165319A= | CA2184410802 | SMAD3 | c.152A= (p.Tyr51=) c.467A= (p.Tyr156=) c.335A= (p.Tyr112=) n.317A= c.400+231A= (n.400+231A=) c.320A= (p.Tyr107=) | |
15 | g.67165319A>C | CA392954365 | SMAD3 | c.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 |
15 | g.67165319A>G | CA392954366 | SMAD3 | c.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 |
15 | g.67165319A>T | CA392954367 | SMAD3 | c.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) | |
15 | g.67165320C>A | CA392954369 | SMAD3 | c.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) | |
15 | g.67165320C= | CA2184410806 | SMAD3 | c.153C= (p.Tyr51=) c.468C= (p.Tyr156=) c.336C= (p.Tyr112=) n.318C= c.400+232C= (n.400+232C=) c.321C= (p.Tyr107=) | |
15 | g.67165320C>G | CA392954368 | SMAD3 | c.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) | |
15 | g.67165320C>T | CA491071731 | SMAD3 | c.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 |
15 | g.67165321A>C | CA392954370 | SMAD3 | c.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) | |
15 | g.67165321A>G | CA392954371 | SMAD3 | c.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) | |
15 | g.67165321A>T | CA392954372 | SMAD3 | c.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) | |
15 | g.67165322G>A | CA392954373 | SMAD3 | c.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 |
15 | g.67165322G>C | CA392954374 | SMAD3 | c.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) | |
15 | g.67165322G>T | CA392954375 | SMAD3 | c.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) | |
15 | g.67165323C>A | CA392954376 | SMAD3 | c.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 |
15 | g.67165323C>G | CA392954377 | SMAD3 | c.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 |
15 | g.67165323C>T | CA491071732 | SMAD3 | c.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 |
15 | g.67165324C>A | CA392954378 | SMAD3 | c.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 |
15 | g.67165324C= | CA2184410809 | SMAD3 | c.157C= (p.His53=) c.472C= (p.His158=) c.340C= (p.His114=) n.322C= c.400+236C= (n.400+236C=) c.325C= (p.His109=) | |
15 | g.67165324C>G | CA392954379 | SMAD3 | c.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) | |
15 | g.67165324C>T | CA392954380 | SMAD3 | c.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 |
15 | g.67165325A= | CA2184410811 | SMAD3 | c.158A= (p.His53=) c.473A= (p.His158=) c.341A= (p.His114=) n.323A= c.400+237A= (n.400+237A=) c.326A= (p.His109=) | |
15 | g.67165325A>C | CA392954381 | SMAD3 | c.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) | |
15 | g.67165325A>G | CA392954382 | SMAD3 | c.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 |
15 | g.67165325A>T | CA392954383 | SMAD3 | c.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 |
15 | g.67165326T>A | CA392954384 | SMAD3 | c.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) | |
15 | g.67165326T>C | CA491071733 | SMAD3 | c.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=) | |
15 | g.67165326T>G | CA392954385 | SMAD3 | c.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) | |
15 | g.67165327T>A | CA392954386 | SMAD3 | c.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) | |
15 | g.67165327T>C | CA392954387 | SMAD3 | c.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) | |
15 | g.67165327T>G | CA392954388 | SMAD3 | c.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) | |
15 | g.67165328C>A | CA392954389 | SMAD3 | c.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) | |
15 | g.67165328C>G | CA392954390 | SMAD3 | c.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) | |
15 | g.67165328C>T | CA392954391 | SMAD3 | c.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) | |
15 | g.67165329C>A | CA491071735 | SMAD3 | c.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=) | |
15 | g.67165329C= | CA2184410814 | SMAD3 | c.162C= (p.Ser54=) c.477C= (p.Ser159=) c.345C= (p.Ser115=) n.327C= c.400+241C= (n.400+241C=) c.330C= (p.Ser110=) | |
15 | g.67165329C>G | CA491071736 | SMAD3 | c.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=) | |
15 | g.67165329C>T | CA491071737 | SMAD3 | c.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 |
15 | g.67165330A>C | CA392954392 | SMAD3 | c.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) | |
15 | g.67165330A>G | CA392954393 | SMAD3 | c.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 |
15 | g.67165330A>T | CA392954394 | SMAD3 | c.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) | |
15 | g.67165331T>A | CA392954395 | SMAD3 | c.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) | |
15 | g.67165331T>C | CA392954396 | SMAD3 | c.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) | |
15 | g.67165331T>G | CA392954397 | SMAD3 | c.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) | |
15 | g.67165331_67165332delinsTC | CA2184410817 | SMAD3 | c.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=) | |
15 | g.67165332C>A | CA491071738 | SMAD3 | c.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 |
15 | g.67165332C= | CA2184410823 | SMAD3 | c.165C= (p.Ile55=) c.480C= (p.Ile160=) c.348C= (p.Ile116=) n.330C= c.400+244C= (n.400+244C=) c.333C= (p.Ile111=) | |
15 | g.67165332C>G | CA392954398 | SMAD3 | c.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) | |
15 | g.67165332C>T | CA491071739 | SMAD3 | c.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 |
15 | g.67165335del | CA323716 | SMAD3 | c.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 |
15 | g.67165333C>A | CA392954401 | SMAD3 | c.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 |
15 | g.67165333C>G | CA392954400 | SMAD3 | c.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) | |
15 | g.67165333C>T | CA392954399 | SMAD3 | c.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 |
15 | g.67165334_67165362dup | CA2629117548 | SMAD3 | c.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 |
15 | g.67165334C>A | CA392954404 | SMAD3 | c.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 |
15 | g.67165334C>G | CA392954403 | SMAD3 | c.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) | |
15 | g.67165334C>T | CA392954402 | SMAD3 | c.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 |
15 | g.67165335C>A | CA491071740 | SMAD3 | c.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 |
15 | g.67165335C= | CA2184410830 | SMAD3 | c.168C= (p.Pro56=) c.483C= (p.Pro161=) c.351C= (p.Pro117=) n.333C= c.400+247C= (n.400+247C=) c.336C= (p.Pro112=) | |
15 | g.67165335C>G | CA491071741 | SMAD3 | c.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 |
15 | g.67165335C>T | CA062275 | SMAD3 | c.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 |
15 | g.67165336G>A | CA062278 | SMAD3 | c.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 |
15 | g.67165336G>C | CA392954405 | SMAD3 | c.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 |
15 | g.67165336G= | CA2184410842 | SMAD3 | c.169G= (p.Glu57=) c.484G= (p.Glu162=) c.352G= (p.Glu118=) n.334G= c.400+248G= (n.400+248G=) c.337G= (p.Glu113=) | |
15 | g.67165336G>T | CA392954406 | SMAD3 | c.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) | |
15 | g.67165337A>C | CA392954407 | SMAD3 | c.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) | |
15 | g.67165337A>G | CA392954408 | SMAD3 | c.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) | |
15 | g.67165337A>T | CA392954409 | SMAD3 | c.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) | |
15 | g.67165338A>C | CA392954410 | SMAD3 | c.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) | |
15 | g.67165338A>G | CA491071742 | SMAD3 | c.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=) | |
15 | g.67165338A>T | CA392954411 | SMAD3 | c.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) | |
15 | g.67165339A>C | CA392954412 | SMAD3 | c.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) | |
15 | g.67165339A>G | CA392954414 | SMAD3 | c.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) | |
15 | g.67165339A>T | CA392954413 | SMAD3 | c.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) | |
15 | g.67165340A>C | CA392954415 | SMAD3 | c.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) | |
15 | g.67165340A>G | CA392954416 | SMAD3 | c.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) | |
15 | g.67165340A>T | CA392954417 | SMAD3 | c.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) | |
15 | g.67165341C>A | CA392954418 | SMAD3 | c.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) | |
15 | g.67165341C>G | CA392954419 | SMAD3 | c.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) | |
15 | g.67165341C>T | CA491071743 | SMAD3 | c.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=) | |
15 | g.67165341_67165345delinsCACTA | CA2184410846 | SMAD3 | c.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=) | |
15 | g.67165342A= | CA2184410853 | SMAD3 | c.175A= (p.Thr59=) c.490A= (p.Thr164=) c.358A= (p.Thr120=) n.340A= c.400+254A= (n.400+254A=) c.343A= (p.Thr115=) | |
15 | g.67165342A>C | CA392954420 | SMAD3 | c.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) | |
15 | g.67165342A>G | CA392954422 | SMAD3 | c.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 |
15 | g.67165342A>T | CA392954421 | SMAD3 | c.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 |
15 | g.67165345_67165348del | CA919580154 | SMAD3 | c.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 |
15 | g.67165343C>A | CA392954423 | SMAD3 | c.176C>A (p.Thr59Asn) c.491C>A (p.Thr164Asn) c.359C>A (p.Thr120Asn) n.341C>A c.400+255C>A (n.400+255C>A) c.344C>A (p.Thr115Asn) | |
15 | g.67165343C= | CA2184410860 | SMAD3 | c.176C= (p.Thr59=) c.491C= (p.Thr164=) c.359C= (p.Thr120=) n.341C= c.400+255C= (n.400+255C=) c.344C= (p.Thr115=) | |
15 | g.67165343C>G | CA392954424 | SMAD3 | c.176C>G (p.Thr59Ser) c.491C>G (p.Thr164Ser) c.359C>G (p.Thr120Ser) n.341C>G c.400+255C>G (n.400+255C>G) c.344C>G (p.Thr115Ser) | gnomAD v4 |
15 | g.67165343C>T | CA392954425 | SMAD3 | c.176C>T (p.Thr59Ile) c.491C>T (p.Thr164Ile) c.359C>T (p.Thr120Ile) n.341C>T c.400+255C>T (n.400+255C>T) c.344C>T (p.Thr115Ile) | |
15 | g.67165344T>A | CA491071746 | SMAD3 | c.177T>A (p.Thr59=) c.492T>A (p.Thr164=) c.360T>A (p.Thr120=) n.342T>A c.400+256T>A (n.400+256T>A) c.345T>A (p.Thr115=) | dbSNP |
15 | g.67165344T>C | CA491071745 | SMAD3 | c.177T>C (p.Thr59=) c.492T>C (p.Thr164=) c.360T>C (p.Thr120=) n.342T>C c.400+256T>C (n.400+256T>C) c.345T>C (p.Thr115=) | dbSNP gnomAD v4 |
15 | g.67165344T>G | CA491071744 | SMAD3 | c.177T>G (p.Thr59=) c.492T>G (p.Thr164=) c.360T>G (p.Thr120=) n.342T>G c.400+256T>G (n.400+256T>G) c.345T>G (p.Thr115=) | |
15 | g.67165344T= | CA2184410864 | SMAD3 | c.177T= (p.Thr59=) c.492T= (p.Thr164=) c.360T= (p.Thr120=) n.342T= c.400+256T= (n.400+256T=) c.345T= (p.Thr115=) | |
15 | g.67165344dup | CA323010 | SMAD3 | c.177dup (p.Asn60Ter) c.492dup (p.Asn165Ter) c.360dup (p.Asn121Ter) n.342dup c.400+256dup (n.400+256dup) c.345dup (p.Asn116Ter) | ClinVar dbSNP |
15 | g.67165345A>C | CA392954426 | SMAD3 | c.178A>C (p.Asn60His) c.493A>C (p.Asn165His) c.361A>C (p.Asn121His) n.343A>C c.400+257A>C (n.400+257A>C) c.346A>C (p.Asn116His) | |
15 | g.67165345A>G | CA392954427 | SMAD3 | c.178A>G (p.Asn60Asp) c.493A>G (p.Asn165Asp) c.361A>G (p.Asn121Asp) n.343A>G c.400+257A>G (n.400+257A>G) c.346A>G (p.Asn116Asp) | |
15 | g.67165345A>T | CA392954428 | SMAD3 | c.178A>T (p.Asn60Tyr) c.493A>T (p.Asn165Tyr) c.361A>T (p.Asn121Tyr) n.343A>T c.400+257A>T (n.400+257A>T) c.346A>T (p.Asn116Tyr) | |
15 | g.67165346A>C | CA392954429 | SMAD3 | c.179A>C (p.Asn60Thr) c.494A>C (p.Asn165Thr) c.362A>C (p.Asn121Thr) n.344A>C c.400+258A>C (n.400+258A>C) c.347A>C (p.Asn116Thr) | dbSNP |
15 | g.67165346A>G | CA392954430 | SMAD3 | c.179A>G (p.Asn60Ser) c.494A>G (p.Asn165Ser) c.362A>G (p.Asn121Ser) n.344A>G c.400+258A>G (n.400+258A>G) c.347A>G (p.Asn116Ser) | |
15 | g.67165346A>T | CA392954431 | SMAD3 | c.179A>T (p.Asn60Ile) c.494A>T (p.Asn165Ile) c.362A>T (p.Asn121Ile) n.344A>T c.400+258A>T (n.400+258A>T) c.347A>T (p.Asn116Ile) | gnomAD v4 |
15 | g.67165347C>A | CA392954432 | SMAD3 | c.180C>A (p.Asn60Lys) c.495C>A (p.Asn165Lys) c.363C>A (p.Asn121Lys) n.345C>A c.400+259C>A (n.400+259C>A) c.348C>A (p.Asn116Lys) | |
15 | g.67165347C= | CA2184410869 | SMAD3 | c.180C= (p.Asn60=) c.495C= (p.Asn165=) c.363C= (p.Asn121=) n.345C= c.400+259C= (n.400+259C=) c.348C= (p.Asn116=) | |
15 | g.67165347C>G | CA392954433 | SMAD3 | c.180C>G (p.Asn60Lys) c.495C>G (p.Asn165Lys) c.363C>G (p.Asn121Lys) n.345C>G c.400+259C>G (n.400+259C>G) c.348C>G (p.Asn116Lys) | |
15 | g.67165347C>T | CA062281 | SMAD3 | c.180C>T (p.Asn60=) c.495C>T (p.Asn165=) c.363C>T (p.Asn121=) n.345C>T c.400+259C>T (n.400+259C>T) c.348C>T (p.Asn116=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |