| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.67187408C>A | CA490917549 | SMAD3 | c.468C>A (p.Leu156=) c.738C>A (p.Leu246=) c.1164C>A (p.Leu388=) c.1053C>A (p.Leu351=) n.756C>A c.921C>A (p.Leu307=) n.747C>A c.600C>A (p.Leu200=) n.283-5465C>A c.245C>A c.906C>A (p.Leu302=) | |
| 15 | g.67187408C= | CA2184420913 | SMAD3 | c.468C= (p.Leu156=) c.738C= (p.Leu246=) c.1164C= (p.Leu388=) c.1053C= (p.Leu351=) n.756C= c.921C= (p.Leu307=) n.747C= c.600C= (p.Leu200=) n.283-5465C= c.245C= c.906C= (p.Leu302=) | |
| 15 | g.67187408C>G | CA490917550 | SMAD3 | c.468C>G (p.Leu156=) c.738C>G (p.Leu246=) c.1164C>G (p.Leu388=) c.1053C>G (p.Leu351=) n.756C>G c.921C>G (p.Leu307=) n.747C>G c.600C>G (p.Leu200=) n.283-5465C>G c.245C>G c.906C>G (p.Leu302=) | |
| 15 | g.67187408C>T | CA490917551 | SMAD3 | c.468C>T (p.Leu156=) c.738C>T (p.Leu246=) c.1164C>T (p.Leu388=) c.1053C>T (p.Leu351=) n.756C>T c.921C>T (p.Leu307=) n.747C>T c.600C>T (p.Leu200=) n.283-5465C>T c.245C>T c.906C>T (p.Leu302=) | dbSNP |
| 15 | g.67187409C>A | CA392958150 | SMAD3 | c.469C>A (p.Leu157Met) c.739C>A (p.Leu247Met) c.1165C>A (p.Leu389Met) c.1054C>A (p.Leu352Met) n.757C>A c.922C>A (p.Leu308Met) n.748C>A c.601C>A (p.Leu201Met) n.283-5464C>A c.246C>A c.907C>A (p.Leu303Met) | |
| 15 | g.67187409C>G | CA392958149 | SMAD3 | c.469C>G (p.Leu157Val) c.739C>G (p.Leu247Val) c.1165C>G (p.Leu389Val) c.1054C>G (p.Leu352Val) n.757C>G c.922C>G (p.Leu308Val) n.748C>G c.601C>G (p.Leu201Val) n.283-5464C>G c.246C>G c.907C>G (p.Leu303Val) | |
| 15 | g.67187409C>T | CA490917554 | SMAD3 | c.469C>T (p.Leu157=) c.739C>T (p.Leu247=) c.1165C>T (p.Leu389=) c.1054C>T (p.Leu352=) n.757C>T c.922C>T (p.Leu308=) n.748C>T c.601C>T (p.Leu201=) n.283-5464C>T c.246C>T c.907C>T (p.Leu303=) | gnomAD v3 gnomAD v4 |
| 15 | g.67187410T>A | CA392958151 | SMAD3 | c.470T>A (p.Leu157Gln) c.740T>A (p.Leu247Gln) c.1166T>A (p.Leu389Gln) c.1055T>A (p.Leu352Gln) n.758T>A c.923T>A (p.Leu308Gln) n.749T>A c.602T>A (p.Leu201Gln) n.283-5463T>A c.247T>A c.908T>A (p.Leu303Gln) | |
| 15 | g.67187410T>C | CA392958153 | SMAD3 | c.470T>C (p.Leu157Pro) c.740T>C (p.Leu247Pro) c.1166T>C (p.Leu389Pro) c.1055T>C (p.Leu352Pro) n.758T>C c.923T>C (p.Leu308Pro) n.749T>C c.602T>C (p.Leu201Pro) n.283-5463T>C c.247T>C c.908T>C (p.Leu303Pro) | |
| 15 | g.67187410T>G | CA392958152 | SMAD3 | c.470T>G (p.Leu157Arg) c.740T>G (p.Leu247Arg) c.1166T>G (p.Leu389Arg) c.1055T>G (p.Leu352Arg) n.758T>G c.923T>G (p.Leu308Arg) n.749T>G c.602T>G (p.Leu201Arg) n.283-5463T>G c.247T>G c.908T>G (p.Leu303Arg) | |
| 15 | g.67187411G>A | CA490917556 | SMAD3 | c.471G>A (p.Leu157=) c.741G>A (p.Leu247=) c.1167G>A (p.Leu389=) c.1056G>A (p.Leu352=) n.759G>A c.924G>A (p.Leu308=) n.750G>A c.603G>A (p.Leu201=) n.283-5462G>A c.248G>A c.909G>A (p.Leu303=) | dbSNP |
| 15 | g.67187411G>C | CA061572 | SMAD3 | c.471G>C (p.Leu157=) c.741G>C (p.Leu247=) c.1167G>C (p.Leu389=) c.1056G>C (p.Leu352=) n.759G>C c.924G>C (p.Leu308=) n.750G>C c.603G>C (p.Leu201=) n.283-5462G>C c.248G>C c.909G>C (p.Leu303=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.67187411G= | CA2184420914 | SMAD3 | c.471G= (p.Leu157=) c.741G= (p.Leu247=) c.1167G= (p.Leu389=) c.1056G= (p.Leu352=) n.759G= c.924G= (p.Leu308=) n.750G= c.603G= (p.Leu201=) n.283-5462G= c.248G= c.909G= (p.Leu303=) | |
| 15 | g.67187411G>T | CA490917563 | SMAD3 | c.471G>T (p.Leu157=) c.741G>T (p.Leu247=) c.1167G>T (p.Leu389=) c.1056G>T (p.Leu352=) n.759G>T c.924G>T (p.Leu308=) n.750G>T c.603G>T (p.Leu201=) n.283-5462G>T c.248G>T c.909G>T (p.Leu303=) | |
| 15 | g.67187412G>A | CA392958154 | SMAD3 | c.472G>A (p.Ala158Thr) c.742G>A (p.Ala248Thr) c.1168G>A (p.Ala390Thr) c.1057G>A (p.Ala353Thr) n.760G>A c.925G>A (p.Ala309Thr) n.751G>A c.604G>A (p.Ala202Thr) n.283-5461G>A c.249G>A c.910G>A (p.Ala304Thr) | dbSNP |
| 15 | g.67187412G>C | CA392958155 | SMAD3 | c.472G>C (p.Ala158Pro) c.742G>C (p.Ala248Pro) c.1168G>C (p.Ala390Pro) c.1057G>C (p.Ala353Pro) n.760G>C c.925G>C (p.Ala309Pro) n.751G>C c.604G>C (p.Ala202Pro) n.283-5461G>C c.249G>C c.910G>C (p.Ala304Pro) | dbSNP |
| 15 | g.67187412G>T | CA392958156 | SMAD3 | c.472G>T (p.Ala158Ser) c.742G>T (p.Ala248Ser) c.1168G>T (p.Ala390Ser) c.1057G>T (p.Ala353Ser) n.760G>T c.925G>T (p.Ala309Ser) n.751G>T c.604G>T (p.Ala202Ser) n.283-5461G>T c.249G>T c.910G>T (p.Ala304Ser) | |
| 15 | g.67187413C>A | CA392958157 | SMAD3 | c.473C>A (p.Ala158Asp) c.743C>A (p.Ala248Asp) c.1169C>A (p.Ala390Asp) c.1058C>A (p.Ala353Asp) n.761C>A c.926C>A (p.Ala309Asp) n.752C>A c.605C>A (p.Ala202Asp) n.283-5460C>A c.250C>A c.911C>A (p.Ala304Asp) | dbSNP |
| 15 | g.67187413C= | CA2184420915 | SMAD3 | c.473C= (p.Ala158=) c.743C= (p.Ala248=) c.1169C= (p.Ala390=) c.1058C= (p.Ala353=) n.761C= c.926C= (p.Ala309=) n.752C= c.605C= (p.Ala202=) n.283-5460C= c.250C= c.911C= (p.Ala304=) | |
| 15 | g.67187413C>G | CA392958158 | SMAD3 | c.473C>G (p.Ala158Gly) c.743C>G (p.Ala248Gly) c.1169C>G (p.Ala390Gly) c.1058C>G (p.Ala353Gly) n.761C>G c.926C>G (p.Ala309Gly) n.752C>G c.605C>G (p.Ala202Gly) n.283-5460C>G c.250C>G c.911C>G (p.Ala304Gly) | |
| 15 | g.67187413C>T | CA392958159 | SMAD3 | c.473C>T (p.Ala158Val) c.743C>T (p.Ala248Val) c.1169C>T (p.Ala390Val) c.1058C>T (p.Ala353Val) n.761C>T c.926C>T (p.Ala309Val) n.752C>T c.605C>T (p.Ala202Val) n.283-5460C>T c.250C>T c.911C>T (p.Ala304Val) | dbSNP |
| 15 | g.67187414C>A | CA061577 | SMAD3 | c.474C>A (p.Ala158=) c.744C>A (p.Ala248=) c.1170C>A (p.Ala390=) c.1059C>A (p.Ala353=) n.762C>A c.927C>A (p.Ala309=) n.753C>A c.606C>A (p.Ala202=) n.283-5459C>A c.251C>A c.912C>A (p.Ala304=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.67187414C= | CA2184420916 | SMAD3 | c.474C= (p.Ala158=) c.744C= (p.Ala248=) c.1170C= (p.Ala390=) c.1059C= (p.Ala353=) n.762C= c.927C= (p.Ala309=) n.753C= c.606C= (p.Ala202=) n.283-5459C= c.251C= c.912C= (p.Ala304=) | |
| 15 | g.67187414C>G | CA490917580 | SMAD3 | c.474C>G (p.Ala158=) c.744C>G (p.Ala248=) c.1170C>G (p.Ala390=) c.1059C>G (p.Ala353=) n.762C>G c.927C>G (p.Ala309=) n.753C>G c.606C>G (p.Ala202=) n.283-5459C>G c.251C>G c.912C>G (p.Ala304=) | |
| 15 | g.67187414C>T | CA490917581 | SMAD3 | c.474C>T (p.Ala158=) c.744C>T (p.Ala248=) c.1170C>T (p.Ala390=) c.1059C>T (p.Ala353=) n.762C>T c.927C>T (p.Ala309=) n.753C>T c.606C>T (p.Ala202=) n.283-5459C>T c.251C>T c.912C>T (p.Ala304=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.67187415C>A | CA392958160 | SMAD3 | c.475C>A (p.Gln159Lys) c.745C>A (p.Gln249Lys) c.1171C>A (p.Gln391Lys) c.1060C>A (p.Gln354Lys) n.763C>A c.928C>A (p.Gln310Lys) n.754C>A c.607C>A (p.Gln203Lys) n.283-5458C>A c.252C>A c.913C>A (p.Gln305Lys) | |
| 15 | g.67187415C>G | CA392958161 | SMAD3 | c.475C>G (p.Gln159Glu) c.745C>G (p.Gln249Glu) c.1171C>G (p.Gln391Glu) c.1060C>G (p.Gln354Glu) n.763C>G c.928C>G (p.Gln310Glu) n.754C>G c.607C>G (p.Gln203Glu) n.283-5458C>G c.252C>G c.913C>G (p.Gln305Glu) | |
| 15 | g.67187415C>T | CA392958162 | SMAD3 | c.475C>T (p.Gln159Ter) c.745C>T (p.Gln249Ter) c.1171C>T (p.Gln391Ter) c.1060C>T (p.Gln354Ter) n.763C>T c.928C>T (p.Gln310Ter) n.754C>T c.607C>T (p.Gln203Ter) n.283-5458C>T c.252C>T c.913C>T (p.Gln305Ter) | dbSNP COSMIC COSMIC |
| 15 | g.67187416A>C | CA392958165 | SMAD3 | c.476A>C (p.Gln159Pro) c.746A>C (p.Gln249Pro) c.1172A>C (p.Gln391Pro) c.1061A>C (p.Gln354Pro) n.764A>C c.929A>C (p.Gln310Pro) n.755A>C c.608A>C (p.Gln203Pro) n.283-5457A>C c.253A>C c.914A>C (p.Gln305Pro) | |
| 15 | g.67187416A>G | CA392958164 | SMAD3 | c.476A>G (p.Gln159Arg) c.746A>G (p.Gln249Arg) c.1172A>G (p.Gln391Arg) c.1061A>G (p.Gln354Arg) n.764A>G c.929A>G (p.Gln310Arg) n.755A>G c.608A>G (p.Gln203Arg) n.283-5457A>G c.253A>G c.914A>G (p.Gln305Arg) | |
| 15 | g.67187416A>T | CA392958163 | SMAD3 | c.476A>T (p.Gln159Leu) c.746A>T (p.Gln249Leu) c.1172A>T (p.Gln391Leu) c.1061A>T (p.Gln354Leu) n.764A>T c.929A>T (p.Gln310Leu) n.755A>T c.608A>T (p.Gln203Leu) n.283-5457A>T c.253A>T c.914A>T (p.Gln305Leu) | |
| 15 | g.67187417G>A | CA490917592 | SMAD3 | c.477G>A (p.Gln159=) c.747G>A (p.Gln249=) c.1173G>A (p.Gln391=) c.1062G>A (p.Gln354=) n.765G>A c.930G>A (p.Gln310=) n.756G>A c.609G>A (p.Gln203=) n.283-5456G>A c.254G>A c.915G>A (p.Gln305=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.67187417G>C | CA392958166 | SMAD3 | c.477G>C (p.Gln159His) c.747G>C (p.Gln249His) c.1173G>C (p.Gln391His) c.1062G>C (p.Gln354His) n.765G>C c.930G>C (p.Gln310His) n.756G>C c.609G>C (p.Gln203His) n.283-5456G>C c.254G>C c.915G>C (p.Gln305His) | |
| 15 | g.67187417G= | CA2184420917 | SMAD3 | c.477G= (p.Gln159=) c.747G= (p.Gln249=) c.1173G= (p.Gln391=) c.1062G= (p.Gln354=) n.765G= c.930G= (p.Gln310=) n.756G= c.609G= (p.Gln203=) n.283-5456G= c.254G= c.915G= (p.Gln305=) | |
| 15 | g.67187417G>T | CA392958167 | SMAD3 | c.477G>T (p.Gln159His) c.747G>T (p.Gln249His) c.1173G>T (p.Gln391His) c.1062G>T (p.Gln354His) n.765G>T c.930G>T (p.Gln310His) n.756G>T c.609G>T (p.Gln203His) n.283-5456G>T c.254G>T c.915G>T (p.Gln305His) | ClinVar dbSNP |
| 15 | g.67187418T>A | CA392958168 | SMAD3 | c.478T>A (p.Ser160Thr) c.748T>A (p.Ser250Thr) c.1174T>A (p.Ser392Thr) c.1063T>A (p.Ser355Thr) n.766T>A c.931T>A (p.Ser311Thr) n.757T>A c.610T>A (p.Ser204Thr) n.283-5455T>A c.255T>A c.916T>A (p.Ser306Thr) | |
| 15 | g.67187418T>C | CA392958169 | SMAD3 | c.478T>C (p.Ser160Pro) c.748T>C (p.Ser250Pro) c.1174T>C (p.Ser392Pro) c.1063T>C (p.Ser355Pro) n.766T>C c.931T>C (p.Ser311Pro) n.757T>C c.610T>C (p.Ser204Pro) n.283-5455T>C c.255T>C c.916T>C (p.Ser306Pro) | gnomAD v4 |
| 15 | g.67187418T>G | CA392958170 | SMAD3 | c.478T>G (p.Ser160Ala) c.748T>G (p.Ser250Ala) c.1174T>G (p.Ser392Ala) c.1063T>G (p.Ser355Ala) n.766T>G c.931T>G (p.Ser311Ala) n.757T>G c.610T>G (p.Ser204Ala) n.283-5455T>G c.255T>G c.916T>G (p.Ser306Ala) | |
| 15 | g.67187419C>A | CA392958171 | SMAD3 | c.479C>A (p.Ser160Ter) c.749C>A (p.Ser250Ter) c.1175C>A (p.Ser392Ter) c.1064C>A (p.Ser355Ter) n.767C>A c.932C>A (p.Ser311Ter) n.758C>A c.611C>A (p.Ser204Ter) n.283-5454C>A c.256C>A c.917C>A (p.Ser306Ter) | COSMIC COSMIC |
| 15 | g.67187419C= | CA2184420918 | SMAD3 | c.479C= (p.Ser160=) c.749C= (p.Ser250=) c.1175C= (p.Ser392=) c.1064C= (p.Ser355=) n.767C= c.932C= (p.Ser311=) n.758C= c.611C= (p.Ser204=) n.283-5454C= c.256C= c.917C= (p.Ser306=) | |
| 15 | g.67187419C>G | CA392958172 | SMAD3 | c.479C>G (p.Ser160Trp) c.749C>G (p.Ser250Trp) c.1175C>G (p.Ser392Trp) c.1064C>G (p.Ser355Trp) n.767C>G c.932C>G (p.Ser311Trp) n.758C>G c.611C>G (p.Ser204Trp) n.283-5454C>G c.256C>G c.917C>G (p.Ser306Trp) | |
| 15 | g.67187419C>T | CA061579 | SMAD3 | c.479C>T (p.Ser160Leu) c.749C>T (p.Ser250Leu) c.1175C>T (p.Ser392Leu) c.1064C>T (p.Ser355Leu) n.767C>T c.932C>T (p.Ser311Leu) n.758C>T c.611C>T (p.Ser204Leu) n.283-5454C>T c.256C>T c.917C>T (p.Ser306Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.67187420G>A | CA061582 | SMAD3 | c.480G>A (p.Ser160=) c.750G>A (p.Ser250=) c.1176G>A (p.Ser392=) c.1065G>A (p.Ser355=) n.768G>A c.933G>A (p.Ser311=) n.759G>A c.612G>A (p.Ser204=) n.283-5453G>A c.257G>A c.918G>A (p.Ser306=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.67187420G>C | CA490917602 | SMAD3 | c.480G>C (p.Ser160=) c.750G>C (p.Ser250=) c.1176G>C (p.Ser392=) c.1065G>C (p.Ser355=) n.768G>C c.933G>C (p.Ser311=) n.759G>C c.612G>C (p.Ser204=) n.283-5453G>C c.257G>C c.918G>C (p.Ser306=) | dbSNP |
| 15 | g.67187420G= | CA2184420919 | SMAD3 | c.480G= (p.Ser160=) c.750G= (p.Ser250=) c.1176G= (p.Ser392=) c.1065G= (p.Ser355=) n.768G= c.933G= (p.Ser311=) n.759G= c.612G= (p.Ser204=) n.283-5453G= c.257G= c.918G= (p.Ser306=) | |
| 15 | g.67187420G>T | CA490917604 | SMAD3 | c.480G>T (p.Ser160=) c.750G>T (p.Ser250=) c.1176G>T (p.Ser392=) c.1065G>T (p.Ser355=) n.768G>T c.933G>T (p.Ser311=) n.759G>T c.612G>T (p.Ser204=) n.283-5453G>T c.257G>T c.918G>T (p.Ser306=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.67187421G>A | CA392958173 | SMAD3 | c.481G>A (p.Val161Ile) c.751G>A (p.Val251Ile) c.1177G>A (p.Val393Ile) c.1066G>A (p.Val356Ile) n.769G>A c.934G>A (p.Val312Ile) n.760G>A c.613G>A (p.Val205Ile) n.283-5452G>A c.258G>A c.919G>A (p.Val307Ile) | dbSNP gnomAD v4 |
| 15 | g.67187421G>C | CA392958174 | SMAD3 | c.481G>C (p.Val161Leu) c.751G>C (p.Val251Leu) c.1177G>C (p.Val393Leu) c.1066G>C (p.Val356Leu) n.769G>C c.934G>C (p.Val312Leu) n.760G>C c.613G>C (p.Val205Leu) n.283-5452G>C c.258G>C c.919G>C (p.Val307Leu) | |
| 15 | g.67187421G>T | CA392958175 | SMAD3 | c.481G>T (p.Val161Phe) c.751G>T (p.Val251Phe) c.1177G>T (p.Val393Phe) c.1066G>T (p.Val356Phe) n.769G>T c.934G>T (p.Val312Phe) n.760G>T c.613G>T (p.Val205Phe) n.283-5452G>T c.258G>T c.919G>T (p.Val307Phe) | |
| 15 | g.67187422T>A | CA392958178 | SMAD3 | c.482T>A (p.Val161Asp) c.752T>A (p.Val251Asp) c.1178T>A (p.Val393Asp) c.1067T>A (p.Val356Asp) n.770T>A c.935T>A (p.Val312Asp) n.761T>A c.614T>A (p.Val205Asp) n.283-5451T>A c.259T>A c.920T>A (p.Val307Asp) | dbSNP |
| 15 | g.67187422T>C | CA392958177 | SMAD3 | c.482T>C (p.Val161Ala) c.752T>C (p.Val251Ala) c.1178T>C (p.Val393Ala) c.1067T>C (p.Val356Ala) n.770T>C c.935T>C (p.Val312Ala) n.761T>C c.614T>C (p.Val205Ala) n.283-5451T>C c.259T>C c.920T>C (p.Val307Ala) | |
| 15 | g.67187422T>G | CA392958176 | SMAD3 | c.482T>G (p.Val161Gly) c.752T>G (p.Val251Gly) c.1178T>G (p.Val393Gly) c.1067T>G (p.Val356Gly) n.770T>G c.935T>G (p.Val312Gly) n.761T>G c.614T>G (p.Val205Gly) n.283-5451T>G c.259T>G c.920T>G (p.Val307Gly) | dbSNP |
| 15 | g.67187423C>A | CA490917609 | SMAD3 | c.483C>A (p.Val161=) c.753C>A (p.Val251=) c.1179C>A (p.Val393=) c.1068C>A (p.Val356=) n.771C>A c.936C>A (p.Val312=) n.762C>A c.615C>A (p.Val205=) n.283-5450C>A c.260C>A c.921C>A (p.Val307=) | gnomAD v4 |
| 15 | g.67187423C>G | CA490917615 | SMAD3 | c.483C>G (p.Val161=) c.753C>G (p.Val251=) c.1179C>G (p.Val393=) c.1068C>G (p.Val356=) n.771C>G c.936C>G (p.Val312=) n.762C>G c.615C>G (p.Val205=) n.283-5450C>G c.260C>G c.921C>G (p.Val307=) | gnomAD v4 |
| 15 | g.67187423C>T | CA490917620 | SMAD3 | c.483C>T (p.Val161=) c.753C>T (p.Val251=) c.1179C>T (p.Val393=) c.1068C>T (p.Val356=) n.771C>T c.936C>T (p.Val312=) n.762C>T c.615C>T (p.Val205=) n.283-5450C>T c.260C>T c.921C>T (p.Val307=) | |
| 15 | g.67187424A>C | CA392958181 | SMAD3 | c.484A>C (p.Asn162His) c.754A>C (p.Asn252His) c.1180A>C (p.Asn394His) c.1069A>C (p.Asn357His) n.772A>C c.937A>C (p.Asn313His) n.763A>C c.616A>C (p.Asn206His) n.283-5449A>C c.261A>C c.922A>C (p.Asn308His) | |
| 15 | g.67187424A>G | CA392958179 | SMAD3 | c.484A>G (p.Asn162Asp) c.754A>G (p.Asn252Asp) c.1180A>G (p.Asn394Asp) c.1069A>G (p.Asn357Asp) n.772A>G c.937A>G (p.Asn313Asp) n.763A>G c.616A>G (p.Asn206Asp) n.283-5449A>G c.261A>G c.922A>G (p.Asn308Asp) | |
| 15 | g.67187424A>T | CA392958180 | SMAD3 | c.484A>T (p.Asn162Tyr) c.754A>T (p.Asn252Tyr) c.1180A>T (p.Asn394Tyr) c.1069A>T (p.Asn357Tyr) n.772A>T c.937A>T (p.Asn313Tyr) n.763A>T c.616A>T (p.Asn206Tyr) n.283-5449A>T c.261A>T c.922A>T (p.Asn308Tyr) | |
| 15 | g.67187425A= | CA2184420920 | SMAD3 | c.485A= (p.Asn162=) c.755A= (p.Asn252=) c.1181A= (p.Asn394=) c.1070A= (p.Asn357=) n.773A= c.938A= (p.Asn313=) n.764A= c.617A= (p.Asn206=) n.283-5448A= c.262A= c.923A= (p.Asn308=) | |
| 15 | g.67187425A>C | CA392958182 | SMAD3 | c.485A>C (p.Asn162Thr) c.755A>C (p.Asn252Thr) c.1181A>C (p.Asn394Thr) c.1070A>C (p.Asn357Thr) n.773A>C c.938A>C (p.Asn313Thr) n.764A>C c.617A>C (p.Asn206Thr) n.283-5448A>C c.262A>C c.923A>C (p.Asn308Thr) | gnomAD v4 |
| 15 | g.67187425A>G | CA061586 | SMAD3 | c.485A>G (p.Asn162Ser) c.755A>G (p.Asn252Ser) c.1181A>G (p.Asn394Ser) c.1070A>G (p.Asn357Ser) n.773A>G c.938A>G (p.Asn313Ser) n.764A>G c.617A>G (p.Asn206Ser) n.283-5448A>G c.262A>G c.923A>G (p.Asn308Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.67187425A>T | CA392958183 | SMAD3 | c.485A>T (p.Asn162Ile) c.755A>T (p.Asn252Ile) c.1181A>T (p.Asn394Ile) c.1070A>T (p.Asn357Ile) n.773A>T c.938A>T (p.Asn313Ile) n.764A>T c.617A>T (p.Asn206Ile) n.283-5448A>T c.262A>T c.923A>T (p.Asn308Ile) | dbSNP |
| 15 | g.67187426C>A | CA392958184 | SMAD3 | c.486C>A (p.Asn162Lys) c.756C>A (p.Asn252Lys) c.1182C>A (p.Asn394Lys) c.1071C>A (p.Asn357Lys) n.774C>A c.939C>A (p.Asn313Lys) n.765C>A c.618C>A (p.Asn206Lys) n.283-5447C>A c.263C>A c.924C>A (p.Asn308Lys) | |
| 15 | g.67187426C>G | CA392958185 | SMAD3 | c.486C>G (p.Asn162Lys) c.756C>G (p.Asn252Lys) c.1182C>G (p.Asn394Lys) c.1071C>G (p.Asn357Lys) n.774C>G c.939C>G (p.Asn313Lys) n.765C>G c.618C>G (p.Asn206Lys) n.283-5447C>G c.263C>G c.924C>G (p.Asn308Lys) | |
| 15 | g.67187426C>T | CA490917626 | SMAD3 | c.486C>T (p.Asn162=) c.756C>T (p.Asn252=) c.1182C>T (p.Asn394=) c.1071C>T (p.Asn357=) n.774C>T c.939C>T (p.Asn313=) n.765C>T c.618C>T (p.Asn206=) n.283-5447C>T c.263C>T c.924C>T (p.Asn308=) | gnomAD v4 |
| 15 | g.67187427C>A | CA392958186 | SMAD3 | c.487C>A (p.Gln163Lys) c.757C>A (p.Gln253Lys) c.1183C>A (p.Gln395Lys) c.1072C>A (p.Gln358Lys) n.775C>A c.940C>A (p.Gln314Lys) n.766C>A c.619C>A (p.Gln207Lys) n.283-5446C>A c.264C>A c.925C>A (p.Gln309Lys) | |
| 15 | g.67187427C>G | CA392958187 | SMAD3 | c.487C>G (p.Gln163Glu) c.757C>G (p.Gln253Glu) c.1183C>G (p.Gln395Glu) c.1072C>G (p.Gln358Glu) n.775C>G c.940C>G (p.Gln314Glu) n.766C>G c.619C>G (p.Gln207Glu) n.283-5446C>G c.264C>G c.925C>G (p.Gln309Glu) | |
| 15 | g.67187427C>T | CA392958188 | SMAD3 | c.487C>T (p.Gln163Ter) c.757C>T (p.Gln253Ter) c.1183C>T (p.Gln395Ter) c.1072C>T (p.Gln358Ter) n.775C>T c.940C>T (p.Gln314Ter) n.766C>T c.619C>T (p.Gln207Ter) n.283-5446C>T c.264C>T c.925C>T (p.Gln309Ter) | COSMIC COSMIC |
| 15 | g.67187428A>C | CA392958189 | SMAD3 | c.488A>C (p.Gln163Pro) c.758A>C (p.Gln253Pro) c.1184A>C (p.Gln395Pro) c.1073A>C (p.Gln358Pro) n.776A>C c.941A>C (p.Gln314Pro) n.767A>C c.620A>C (p.Gln207Pro) n.283-5445A>C c.265A>C c.926A>C (p.Gln309Pro) | |
| 15 | g.67187428A>G | CA392958190 | SMAD3 | c.488A>G (p.Gln163Arg) c.758A>G (p.Gln253Arg) c.1184A>G (p.Gln395Arg) c.1073A>G (p.Gln358Arg) n.776A>G c.941A>G (p.Gln314Arg) n.767A>G c.620A>G (p.Gln207Arg) n.283-5445A>G c.265A>G c.926A>G (p.Gln309Arg) | |
| 15 | g.67187428A>T | CA392958191 | SMAD3 | c.488A>T (p.Gln163Leu) c.758A>T (p.Gln253Leu) c.1184A>T (p.Gln395Leu) c.1073A>T (p.Gln358Leu) n.776A>T c.941A>T (p.Gln314Leu) n.767A>T c.620A>T (p.Gln207Leu) n.283-5445A>T c.265A>T c.926A>T (p.Gln309Leu) | dbSNP |
| 15 | g.67187429G>A | CA490917630 | SMAD3 | c.489G>A (p.Gln163=) c.759G>A (p.Gln253=) c.1185G>A (p.Gln395=) c.1074G>A (p.Gln358=) n.777G>A c.942G>A (p.Gln314=) n.768G>A c.621G>A (p.Gln207=) n.283-5444G>A c.266G>A c.927G>A (p.Gln309=) | |
| 15 | g.67187429G>C | CA392958193 | SMAD3 | c.489G>C (p.Gln163His) c.759G>C (p.Gln253His) c.1185G>C (p.Gln395His) c.1074G>C (p.Gln358His) n.777G>C c.942G>C (p.Gln314His) n.768G>C c.621G>C (p.Gln207His) n.283-5444G>C c.266G>C c.927G>C (p.Gln309His) | |
| 15 | g.67187429G>T | CA392958192 | SMAD3 | c.489G>T (p.Gln163His) c.759G>T (p.Gln253His) c.1185G>T (p.Gln395His) c.1074G>T (p.Gln358His) n.777G>T c.942G>T (p.Gln314His) n.768G>T c.621G>T (p.Gln207His) n.283-5444G>T c.266G>T c.927G>T (p.Gln309His) | |
| 15 | g.67187430G>A | CA392958194 | SMAD3 | c.490G>A (p.Gly164Ser) c.760G>A (p.Gly254Ser) c.1186G>A (p.Gly396Ser) c.1075G>A (p.Gly359Ser) n.778G>A c.943G>A (p.Gly315Ser) n.769G>A c.622G>A (p.Gly208Ser) n.283-5443G>A c.267G>A c.928G>A (p.Gly310Ser) | gnomAD v4 |
| 15 | g.67187430G>C | CA392958195 | SMAD3 | c.490G>C (p.Gly164Arg) c.760G>C (p.Gly254Arg) c.1186G>C (p.Gly396Arg) c.1075G>C (p.Gly359Arg) n.778G>C c.943G>C (p.Gly315Arg) n.769G>C c.622G>C (p.Gly208Arg) n.283-5443G>C c.267G>C c.928G>C (p.Gly310Arg) | |
| 15 | g.67187430G>T | CA392958196 | SMAD3 | c.490G>T (p.Gly164Cys) c.760G>T (p.Gly254Cys) c.1186G>T (p.Gly396Cys) c.1075G>T (p.Gly359Cys) n.778G>T c.943G>T (p.Gly315Cys) n.769G>T c.622G>T (p.Gly208Cys) n.283-5443G>T c.267G>T c.928G>T (p.Gly310Cys) | |
| 15 | g.67187431G>A | CA392958197 | SMAD3 | c.491G>A (p.Gly164Asp) c.761G>A (p.Gly254Asp) c.1187G>A (p.Gly396Asp) c.1076G>A (p.Gly359Asp) n.779G>A c.944G>A (p.Gly315Asp) n.770G>A c.623G>A (p.Gly208Asp) n.283-5442G>A c.268G>A c.929G>A (p.Gly310Asp) | |
| 15 | g.67187431G>C | CA392958198 | SMAD3 | c.491G>C (p.Gly164Ala) c.761G>C (p.Gly254Ala) c.1187G>C (p.Gly396Ala) c.1076G>C (p.Gly359Ala) n.779G>C c.944G>C (p.Gly315Ala) n.770G>C c.623G>C (p.Gly208Ala) n.283-5442G>C c.268G>C c.929G>C (p.Gly310Ala) | |
| 15 | g.67187431G>T | CA392958199 | SMAD3 | c.491G>T (p.Gly164Val) c.761G>T (p.Gly254Val) c.1187G>T (p.Gly396Val) c.1076G>T (p.Gly359Val) n.779G>T c.944G>T (p.Gly315Val) n.770G>T c.623G>T (p.Gly208Val) n.283-5442G>T c.268G>T c.929G>T (p.Gly310Val) | |
| 15 | g.67187432C>A | CA490917641 | SMAD3 | c.492C>A (p.Gly164=) c.762C>A (p.Gly254=) c.1188C>A (p.Gly396=) c.1077C>A (p.Gly359=) n.780C>A c.945C>A (p.Gly315=) n.771C>A c.624C>A (p.Gly208=) n.283-5441C>A c.269C>A c.930C>A (p.Gly310=) | |
| 15 | g.67187432C>G | CA490917643 | SMAD3 | c.492C>G (p.Gly164=) c.762C>G (p.Gly254=) c.1188C>G (p.Gly396=) c.1077C>G (p.Gly359=) n.780C>G c.945C>G (p.Gly315=) n.771C>G c.624C>G (p.Gly208=) n.283-5441C>G c.269C>G c.930C>G (p.Gly310=) | |
| 15 | g.67187432C>T | CA490917646 | SMAD3 | c.492C>T (p.Gly164=) c.762C>T (p.Gly254=) c.1188C>T (p.Gly396=) c.1077C>T (p.Gly359=) n.780C>T c.945C>T (p.Gly315=) n.771C>T c.624C>T (p.Gly208=) n.283-5441C>T c.269C>T c.930C>T (p.Gly310=) | |
| 15 | g.67187433T>A | CA392958200 | SMAD3 | c.493T>A (p.Phe165Ile) c.763T>A (p.Phe255Ile) c.1189T>A (p.Phe397Ile) c.1078T>A (p.Phe360Ile) n.781T>A c.946T>A (p.Phe316Ile) n.772T>A c.625T>A (p.Phe209Ile) n.283-5440T>A c.270T>A c.931T>A (p.Phe311Ile) | |
| 15 | g.67187433T>C | CA392958201 | SMAD3 | c.493T>C (p.Phe165Leu) c.763T>C (p.Phe255Leu) c.1189T>C (p.Phe397Leu) c.1078T>C (p.Phe360Leu) n.781T>C c.946T>C (p.Phe316Leu) n.772T>C c.625T>C (p.Phe209Leu) n.283-5440T>C c.270T>C c.931T>C (p.Phe311Leu) | |
| 15 | g.67187433T>G | CA392958202 | SMAD3 | c.493T>G (p.Phe165Val) c.763T>G (p.Phe255Val) c.1189T>G (p.Phe397Val) c.1078T>G (p.Phe360Val) n.781T>G c.946T>G (p.Phe316Val) n.772T>G c.625T>G (p.Phe209Val) n.283-5440T>G c.270T>G c.931T>G (p.Phe311Val) | |
| 15 | g.67187435dup | CA658820907 | SMAD3 | c.495dup (p.Glu166Ter) c.765dup (p.Glu256Ter) c.1191dup (p.Glu398Ter) c.1080dup (p.Glu361Ter) n.783dup c.948dup (p.Glu317Ter) n.774dup c.627dup (p.Glu210Ter) n.283-5438dup c.272dup c.933dup (p.Glu312Ter) | |
| 15 | g.67187434T>A | CA392958203 | SMAD3 | c.494T>A (p.Phe165Tyr) c.764T>A (p.Phe255Tyr) c.1190T>A (p.Phe397Tyr) c.1079T>A (p.Phe360Tyr) n.782T>A c.947T>A (p.Phe316Tyr) n.773T>A c.626T>A (p.Phe209Tyr) n.283-5439T>A c.271T>A c.932T>A (p.Phe311Tyr) | |
| 15 | g.67187434T>C | CA392958204 | SMAD3 | c.494T>C (p.Phe165Ser) c.764T>C (p.Phe255Ser) c.1190T>C (p.Phe397Ser) c.1079T>C (p.Phe360Ser) n.782T>C c.947T>C (p.Phe316Ser) n.773T>C c.626T>C (p.Phe209Ser) n.283-5439T>C c.271T>C c.932T>C (p.Phe311Ser) | |
| 15 | g.67187434T>G | CA392958205 | SMAD3 | c.494T>G (p.Phe165Cys) c.764T>G (p.Phe255Cys) c.1190T>G (p.Phe397Cys) c.1079T>G (p.Phe360Cys) n.782T>G c.947T>G (p.Phe316Cys) n.773T>G c.626T>G (p.Phe209Cys) n.283-5439T>G c.271T>G c.932T>G (p.Phe311Cys) | |
| 15 | g.67187435T>A | CA392958206 | SMAD3 | c.495T>A (p.Phe165Leu) c.765T>A (p.Phe255Leu) c.1191T>A (p.Phe397Leu) c.1080T>A (p.Phe360Leu) n.783T>A c.948T>A (p.Phe316Leu) n.774T>A c.627T>A (p.Phe209Leu) n.283-5438T>A c.272T>A c.933T>A (p.Phe311Leu) | |
| 15 | g.67187435T>C | CA490917660 | SMAD3 | c.495T>C (p.Phe165=) c.765T>C (p.Phe255=) c.1191T>C (p.Phe397=) c.1080T>C (p.Phe360=) n.783T>C c.948T>C (p.Phe316=) n.774T>C c.627T>C (p.Phe209=) n.283-5438T>C c.272T>C c.933T>C (p.Phe311=) | |
| 15 | g.67187435T>G | CA392958207 | SMAD3 | c.495T>G (p.Phe165Leu) c.765T>G (p.Phe255Leu) c.1191T>G (p.Phe397Leu) c.1080T>G (p.Phe360Leu) n.783T>G c.948T>G (p.Phe316Leu) n.774T>G c.627T>G (p.Phe209Leu) n.283-5438T>G c.272T>G c.933T>G (p.Phe311Leu) | ClinVar dbSNP gnomAD v4 |
| 15 | g.67187436G>A | CA16621675 | SMAD3 | c.496G>A (p.Glu166Lys) c.766G>A (p.Glu256Lys) c.1192G>A (p.Glu398Lys) c.1081G>A (p.Glu361Lys) n.784G>A c.949G>A (p.Glu317Lys) n.775G>A c.628G>A (p.Glu210Lys) n.283-5437G>A c.273G>A c.934G>A (p.Glu312Lys) | ClinVar dbSNP |
| 15 | g.67187436G>C | CA324625 | SMAD3 | c.496G>C (p.Glu166Gln) c.766G>C (p.Glu256Gln) c.1192G>C (p.Glu398Gln) c.1081G>C (p.Glu361Gln) n.784G>C c.949G>C (p.Glu317Gln) n.775G>C c.628G>C (p.Glu210Gln) n.283-5437G>C c.273G>C c.934G>C (p.Glu312Gln) | ClinVar dbSNP |
| 15 | g.67187436G= | CA2184420921 | SMAD3 | c.496G= (p.Glu166=) c.766G= (p.Glu256=) c.1192G= (p.Glu398=) c.1081G= (p.Glu361=) n.784G= c.949G= (p.Glu317=) n.775G= c.628G= (p.Glu210=) n.283-5437G= c.273G= c.934G= (p.Glu312=) | |
| 15 | g.67187436G>T | CA020037 | SMAD3 | c.496G>T (p.Glu166Ter) c.766G>T (p.Glu256Ter) c.1192G>T (p.Glu398Ter) c.1081G>T (p.Glu361Ter) n.784G>T c.949G>T (p.Glu317Ter) n.775G>T c.628G>T (p.Glu210Ter) n.283-5437G>T c.273G>T c.934G>T (p.Glu312Ter) | ClinVar dbSNP |
| 15 | g.67187437A>C | CA392958208 | SMAD3 | c.497A>C (p.Glu166Ala) c.767A>C (p.Glu256Ala) c.1193A>C (p.Glu398Ala) c.1082A>C (p.Glu361Ala) n.785A>C c.950A>C (p.Glu317Ala) n.776A>C c.629A>C (p.Glu210Ala) n.283-5436A>C c.274A>C c.935A>C (p.Glu312Ala) | |
| 15 | g.67187437A>G | CA392958209 | SMAD3 | c.497A>G (p.Glu166Gly) c.767A>G (p.Glu256Gly) c.1193A>G (p.Glu398Gly) c.1082A>G (p.Glu361Gly) n.785A>G c.950A>G (p.Glu317Gly) n.776A>G c.629A>G (p.Glu210Gly) n.283-5436A>G c.274A>G c.935A>G (p.Glu312Gly) | dbSNP |
| 15 | g.67187437A>T | CA392958210 | SMAD3 | c.497A>T (p.Glu166Val) c.767A>T (p.Glu256Val) c.1193A>T (p.Glu398Val) c.1082A>T (p.Glu361Val) n.785A>T c.950A>T (p.Glu317Val) n.776A>T c.629A>T (p.Glu210Val) n.283-5436A>T c.274A>T c.935A>T (p.Glu312Val) | dbSNP |
| 15 | g.67187438G>A | CA490917666 | SMAD3 | c.498G>A (p.Glu166=) c.768G>A (p.Glu256=) c.1194G>A (p.Glu398=) c.1083G>A (p.Glu361=) n.786G>A c.951G>A (p.Glu317=) n.777G>A c.630G>A (p.Glu210=) n.283-5435G>A c.275G>A c.936G>A (p.Glu312=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.67187438G>C | CA392958211 | SMAD3 | c.498G>C (p.Glu166Asp) c.768G>C (p.Glu256Asp) c.1194G>C (p.Glu398Asp) c.1083G>C (p.Glu361Asp) n.786G>C c.951G>C (p.Glu317Asp) n.777G>C c.630G>C (p.Glu210Asp) n.283-5435G>C c.275G>C c.936G>C (p.Glu312Asp) | |
| 15 | g.67187438G= | CA2184420922 | SMAD3 | c.498G= (p.Glu166=) c.768G= (p.Glu256=) c.1194G= (p.Glu398=) c.1083G= (p.Glu361=) n.786G= c.951G= (p.Glu317=) n.777G= c.630G= (p.Glu210=) n.283-5435G= c.275G= c.936G= (p.Glu312=) | |
| 15 | g.67187438G>T | CA392958212 | SMAD3 | c.498G>T (p.Glu166Asp) c.768G>T (p.Glu256Asp) c.1194G>T (p.Glu398Asp) c.1083G>T (p.Glu361Asp) n.786G>T c.951G>T (p.Glu317Asp) n.777G>T c.630G>T (p.Glu210Asp) n.283-5435G>T c.275G>T c.936G>T (p.Glu312Asp) | |
| 15 | g.67187439G>A | CA392958215 | SMAD3 | c.499G>A (p.Ala167Thr) c.769G>A (p.Ala257Thr) c.1195G>A (p.Ala399Thr) c.1084G>A (p.Ala362Thr) n.787G>A c.952G>A (p.Ala318Thr) n.778G>A c.631G>A (p.Ala211Thr) n.283-5434G>A c.276G>A c.937G>A (p.Ala313Thr) | |
| 15 | g.67187439G>C | CA392958214 | SMAD3 | c.499G>C (p.Ala167Pro) c.769G>C (p.Ala257Pro) c.1195G>C (p.Ala399Pro) c.1084G>C (p.Ala362Pro) n.787G>C c.952G>C (p.Ala318Pro) n.778G>C c.631G>C (p.Ala211Pro) n.283-5434G>C c.276G>C c.937G>C (p.Ala313Pro) | ClinVar |
| 15 | g.67187439G>T | CA392958213 | SMAD3 | c.499G>T (p.Ala167Ser) c.769G>T (p.Ala257Ser) c.1195G>T (p.Ala399Ser) c.1084G>T (p.Ala362Ser) n.787G>T c.952G>T (p.Ala318Ser) n.778G>T c.631G>T (p.Ala211Ser) n.283-5434G>T c.276G>T c.937G>T (p.Ala313Ser) | |
| 15 | g.67187440C>A | CA392958216 | SMAD3 | c.500C>A (p.Ala167Asp) c.770C>A (p.Ala257Asp) c.1196C>A (p.Ala399Asp) c.1085C>A (p.Ala362Asp) n.788C>A c.953C>A (p.Ala318Asp) n.779C>A c.632C>A (p.Ala211Asp) n.283-5433C>A c.277C>A c.938C>A (p.Ala313Asp) | |
| 15 | g.67187440C= | CA2184420923 | SMAD3 | c.500C= (p.Ala167=) c.770C= (p.Ala257=) c.1196C= (p.Ala399=) c.1085C= (p.Ala362=) n.788C= c.953C= (p.Ala318=) n.779C= c.632C= (p.Ala211=) n.283-5433C= c.277C= c.938C= (p.Ala313=) | |
| 15 | g.67187440C>G | CA392958217 | SMAD3 | c.500C>G (p.Ala167Gly) c.770C>G (p.Ala257Gly) c.1196C>G (p.Ala399Gly) c.1085C>G (p.Ala362Gly) n.788C>G c.953C>G (p.Ala318Gly) n.779C>G c.632C>G (p.Ala211Gly) n.283-5433C>G c.277C>G c.938C>G (p.Ala313Gly) | |
| 15 | g.67187440C>T | CA392958218 | SMAD3 | c.500C>T (p.Ala167Val) c.770C>T (p.Ala257Val) c.1196C>T (p.Ala399Val) c.1085C>T (p.Ala362Val) n.788C>T c.953C>T (p.Ala318Val) n.779C>T c.632C>T (p.Ala211Val) n.283-5433C>T c.277C>T c.938C>T (p.Ala313Val) | |
| 15 | g.67187442_67187445del | CA2739269521 | SMAD3 | c.502_505del (p.Val168ThrfsTer3) c.772_775del (p.Val258ThrfsTer3) c.1198_1201del (p.Val400ThrfsTer3) c.1087_1090del (p.Val363ThrfsTer3) n.790_793del c.955_958del (p.Val319ThrfsTer3) n.781_784del c.634_637del (p.Val212=) n.283-5431_283-5428del c.279_282del c.940_943del (p.Val314ThrfsTer3) | ClinVar |
| 15 | g.67187441T>A | CA490917676 | SMAD3 | c.501T>A (p.Ala167=) c.771T>A (p.Ala257=) c.1197T>A (p.Ala399=) c.1086T>A (p.Ala362=) n.789T>A c.954T>A (p.Ala318=) n.780T>A c.633T>A (p.Ala211=) n.283-5432T>A c.278T>A c.939T>A (p.Ala313=) | |
| 15 | g.67187441T>C | CA490917677 | SMAD3 | c.501T>C (p.Ala167=) c.771T>C (p.Ala257=) c.1197T>C (p.Ala399=) c.1086T>C (p.Ala362=) n.789T>C c.954T>C (p.Ala318=) n.780T>C c.633T>C (p.Ala211=) n.283-5432T>C c.278T>C c.939T>C (p.Ala313=) | |
| 15 | g.67187441T>G | CA490917679 | SMAD3 | c.501T>G (p.Ala167=) c.771T>G (p.Ala257=) c.1197T>G (p.Ala399=) c.1086T>G (p.Ala362=) n.789T>G c.954T>G (p.Ala318=) n.780T>G c.633T>G (p.Ala211=) n.283-5432T>G c.278T>G c.939T>G (p.Ala313=) | |
| 15 | g.67187441_67187453dup | CA16619994 | SMAD3 | c.501_513dup (p.Thr172CysfsTer?) c.771_783dup (p.Thr262CysfsTer?) c.1197_1209dup (p.Thr404CysfsTer?) c.1086_1098dup (p.Thr367CysfsTer?) n.789_801dup c.954_966dup (p.Thr323CysfsTer?) n.780_792dup n.283-5432_283-5420dup c.278_290dup c.939_951dup (p.Thr318CysfsTer?) | ClinVar dbSNP |
| 15 | g.67187442G>A | CA392958219 | SMAD3 | c.502G>A (p.Val168Ile) c.772G>A (p.Val258Ile) c.1198G>A (p.Val400Ile) c.1087G>A (p.Val363Ile) n.790G>A c.955G>A (p.Val319Ile) n.781G>A c.634G>A (p.Val212Ile) n.283-5431G>A c.279G>A c.940G>A (p.Val314Ile) | ClinVar dbSNP gnomAD v4 |
| 15 | g.67187442G>C | CA392958220 | SMAD3 | c.502G>C (p.Val168Leu) c.772G>C (p.Val258Leu) c.1198G>C (p.Val400Leu) c.1087G>C (p.Val363Leu) n.790G>C c.955G>C (p.Val319Leu) n.781G>C c.634G>C (p.Val212Leu) n.283-5431G>C c.279G>C c.940G>C (p.Val314Leu) | |
| 15 | g.67187442G>T | CA392958221 | SMAD3 | c.502G>T (p.Val168Phe) c.772G>T (p.Val258Phe) c.1198G>T (p.Val400Phe) c.1087G>T (p.Val363Phe) n.790G>T c.955G>T (p.Val319Phe) n.781G>T c.634G>T (p.Val212Phe) n.283-5431G>T c.279G>T c.940G>T (p.Val314Phe) | |
| 15 | g.67187443T>A | CA392958224 | SMAD3 | c.503T>A (p.Val168Asp) c.773T>A (p.Val258Asp) c.1199T>A (p.Val400Asp) c.1088T>A (p.Val363Asp) n.791T>A c.956T>A (p.Val319Asp) n.782T>A c.635T>A (p.Val212Asp) n.283-5430T>A c.280T>A c.941T>A (p.Val314Asp) | |
| 15 | g.67187443T>C | CA392958222 | SMAD3 | c.503T>C (p.Val168Ala) c.773T>C (p.Val258Ala) c.1199T>C (p.Val400Ala) c.1088T>C (p.Val363Ala) n.791T>C c.956T>C (p.Val319Ala) n.782T>C c.635T>C (p.Val212Ala) n.283-5430T>C c.280T>C c.941T>C (p.Val314Ala) | ClinVar |
| 15 | g.67187443T>G | CA392958223 | SMAD3 | c.503T>G (p.Val168Gly) c.773T>G (p.Val258Gly) c.1199T>G (p.Val400Gly) c.1088T>G (p.Val363Gly) n.791T>G c.956T>G (p.Val319Gly) n.782T>G c.635T>G (p.Val212Gly) n.283-5430T>G c.280T>G c.941T>G (p.Val314Gly) | ClinVar dbSNP |
| 15 | g.67187443T= | CA2184420924 | SMAD3 | c.503T= (p.Val168=) c.773T= (p.Val258=) c.1199T= (p.Val400=) c.1088T= (p.Val363=) n.791T= c.956T= (p.Val319=) n.782T= c.635T= (p.Val212=) n.283-5430T= c.280T= c.941T= (p.Val314=) | |
| 15 | g.67187444C>A | CA490917690 | SMAD3 | c.504C>A (p.Val168=) c.774C>A (p.Val258=) c.1200C>A (p.Val400=) c.1089C>A (p.Val363=) n.792C>A c.957C>A (p.Val319=) n.783C>A c.636C>A (p.Val212=) n.283-5429C>A c.281C>A c.942C>A (p.Val314=) | |
| 15 | g.67187444C= | CA2184420925 | SMAD3 | c.504C= (p.Val168=) c.774C= (p.Val258=) c.1200C= (p.Val400=) c.1089C= (p.Val363=) n.792C= c.957C= (p.Val319=) n.783C= c.636C= (p.Val212=) n.283-5429C= c.281C= c.942C= (p.Val314=) | |
| 15 | g.67187444C>G | CA490917691 | SMAD3 | c.504C>G (p.Val168=) c.774C>G (p.Val258=) c.1200C>G (p.Val400=) c.1089C>G (p.Val363=) n.792C>G c.957C>G (p.Val319=) n.783C>G c.636C>G (p.Val212=) n.283-5429C>G c.281C>G c.942C>G (p.Val314=) | |
| 15 | g.67187444C>T | CA490917692 | SMAD3 | c.504C>T (p.Val168=) c.774C>T (p.Val258=) c.1200C>T (p.Val400=) c.1089C>T (p.Val363=) n.792C>T c.957C>T (p.Val319=) n.783C>T c.636C>T (p.Val212=) n.283-5429C>T c.281C>T c.942C>T (p.Val314=) | dbSNP |
| 15 | g.67187445T>A | CA392958225 | SMAD3 | c.505T>A (p.Tyr169Asn) c.775T>A (p.Tyr259Asn) c.1201T>A (p.Tyr401Asn) c.1090T>A (p.Tyr364Asn) n.793T>A c.958T>A (p.Tyr320Asn) n.784T>A c.637T>A (p.Tyr213Asn) n.283-5428T>A c.282T>A c.943T>A (p.Tyr315Asn) | |
| 15 | g.67187445T>C | CA392958226 | SMAD3 | c.505T>C (p.Tyr169His) c.775T>C (p.Tyr259His) c.1201T>C (p.Tyr401His) c.1090T>C (p.Tyr364His) n.793T>C c.958T>C (p.Tyr320His) n.784T>C c.637T>C (p.Tyr213His) n.283-5428T>C c.282T>C c.943T>C (p.Tyr315His) | |
| 15 | g.67187445T>G | CA392958227 | SMAD3 | c.505T>G (p.Tyr169Asp) c.775T>G (p.Tyr259Asp) c.1201T>G (p.Tyr401Asp) c.1090T>G (p.Tyr364Asp) n.793T>G c.958T>G (p.Tyr320Asp) n.784T>G c.637T>G (p.Tyr213Asp) n.283-5428T>G c.282T>G c.943T>G (p.Tyr315Asp) | |
| 15 | g.67187446A= | CA2184420926 | SMAD3 | c.506A= (p.Tyr169=) c.776A= (p.Tyr259=) c.1202A= (p.Tyr401=) c.1091A= (p.Tyr364=) n.794A= c.959A= (p.Tyr320=) n.785A= c.638A= (p.Tyr213=) n.283-5427A= c.283A= c.944A= (p.Tyr315=) | |
| 15 | g.67187446A>C | CA392958228 | SMAD3 | c.506A>C (p.Tyr169Ser) c.776A>C (p.Tyr259Ser) c.1202A>C (p.Tyr401Ser) c.1091A>C (p.Tyr364Ser) n.794A>C c.959A>C (p.Tyr320Ser) n.785A>C c.638A>C (p.Tyr213Ser) n.283-5427A>C c.283A>C c.944A>C (p.Tyr315Ser) | |
| 15 | g.67187446A>G | CA10587878 | SMAD3 | c.506A>G (p.Tyr169Cys) c.776A>G (p.Tyr259Cys) c.1202A>G (p.Tyr401Cys) c.1091A>G (p.Tyr364Cys) n.794A>G c.959A>G (p.Tyr320Cys) n.785A>G c.638A>G (p.Tyr213Cys) n.283-5427A>G c.283A>G c.944A>G (p.Tyr315Cys) | ClinVar dbSNP COSMIC COSMIC |
| 15 | g.67187446A>T | CA392958229 | SMAD3 | c.506A>T (p.Tyr169Phe) c.776A>T (p.Tyr259Phe) c.1202A>T (p.Tyr401Phe) c.1091A>T (p.Tyr364Phe) n.794A>T c.959A>T (p.Tyr320Phe) n.785A>T c.638A>T (p.Tyr213Phe) n.283-5427A>T c.283A>T c.944A>T (p.Tyr315Phe) | |
| 15 | g.67187447C>A | CA392958230 | SMAD3 | c.507C>A (p.Tyr169Ter) c.777C>A (p.Tyr259Ter) c.1203C>A (p.Tyr401Ter) c.1092C>A (p.Tyr364Ter) n.795C>A c.960C>A (p.Tyr320Ter) n.786C>A c.639C>A (p.Tyr213Ter) n.283-5426C>A c.284C>A c.945C>A (p.Tyr315Ter) | |
| 15 | g.67187447C= | CA2184420927 | SMAD3 | c.507C= (p.Tyr169=) c.777C= (p.Tyr259=) c.1203C= (p.Tyr401=) c.1092C= (p.Tyr364=) n.795C= c.960C= (p.Tyr320=) n.786C= c.639C= (p.Tyr213=) n.283-5426C= c.284C= c.945C= (p.Tyr315=) | |
| 15 | g.67187447C>G | CA392958231 | SMAD3 | c.507C>G (p.Tyr169Ter) c.777C>G (p.Tyr259Ter) c.1203C>G (p.Tyr401Ter) c.1092C>G (p.Tyr364Ter) n.795C>G c.960C>G (p.Tyr320Ter) n.786C>G c.639C>G (p.Tyr213Ter) n.283-5426C>G c.284C>G c.945C>G (p.Tyr315Ter) | |
| 15 | g.67187447C>T | CA061588 | SMAD3 | c.507C>T (p.Tyr169=) c.777C>T (p.Tyr259=) c.1203C>T (p.Tyr401=) c.1092C>T (p.Tyr364=) n.795C>T c.960C>T (p.Tyr320=) n.786C>T c.639C>T (p.Tyr213=) n.283-5426C>T c.284C>T c.945C>T (p.Tyr315=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.67187448C>A | CA392958232 | SMAD3 | c.508C>A (p.Gln170Lys) c.778C>A (p.Gln260Lys) c.1204C>A (p.Gln402Lys) c.1093C>A (p.Gln365Lys) n.796C>A c.961C>A (p.Gln321Lys) n.787C>A n.283-5425C>A c.285C>A c.946C>A (p.Gln316Lys) | COSMIC COSMIC |
| 15 | g.67187448C>G | CA392958233 | SMAD3 | c.508C>G (p.Gln170Glu) c.778C>G (p.Gln260Glu) c.1204C>G (p.Gln402Glu) c.1093C>G (p.Gln365Glu) n.796C>G c.961C>G (p.Gln321Glu) n.787C>G n.283-5425C>G c.285C>G c.946C>G (p.Gln316Glu) | |
| 15 | g.67187448C>T | CA392958234 | SMAD3 | c.508C>T (p.Gln170Ter) c.778C>T (p.Gln260Ter) c.1204C>T (p.Gln402Ter) c.1093C>T (p.Gln365Ter) n.796C>T c.961C>T (p.Gln321Ter) n.787C>T n.283-5425C>T c.285C>T c.946C>T (p.Gln316Ter) | |
| 15 | g.67187449A= | CA2184420928 | SMAD3 | c.509A= (p.Gln170=) c.779A= (p.Gln260=) c.1205A= (p.Gln402=) c.1094A= (p.Gln365=) n.797A= c.962A= (p.Gln321=) n.788A= n.283-5424A= c.286A= c.947A= (p.Gln316=) | |
| 15 | g.67187449A>C | CA392958235 | SMAD3 | c.509A>C (p.Gln170Pro) c.779A>C (p.Gln260Pro) c.1205A>C (p.Gln402Pro) c.1094A>C (p.Gln365Pro) n.797A>C c.962A>C (p.Gln321Pro) n.788A>C n.283-5424A>C c.286A>C c.947A>C (p.Gln316Pro) | |
| 15 | g.67187449A>G | CA392958237 | SMAD3 | c.509A>G (p.Gln170Arg) c.779A>G (p.Gln260Arg) c.1205A>G (p.Gln402Arg) c.1094A>G (p.Gln365Arg) n.797A>G c.962A>G (p.Gln321Arg) n.788A>G n.283-5424A>G c.286A>G c.947A>G (p.Gln316Arg) | |
| 15 | g.67187449A>T | CA392958236 | SMAD3 | c.509A>T (p.Gln170Leu) c.779A>T (p.Gln260Leu) c.1205A>T (p.Gln402Leu) c.1094A>T (p.Gln365Leu) n.797A>T c.962A>T (p.Gln321Leu) n.788A>T n.283-5424A>T c.286A>T c.947A>T (p.Gln316Leu) | ClinVar dbSNP |
| 15 | g.67187450G>A | CA490917720 | SMAD3 | c.510G>A (p.Gln170=) c.780G>A (p.Gln260=) c.1206G>A (p.Gln402=) c.1095G>A (p.Gln365=) n.798G>A c.963G>A (p.Gln321=) n.789G>A n.283-5423G>A c.287G>A c.948G>A (p.Gln316=) | gnomAD v4 |
| 15 | g.67187450G>C | CA392958238 | SMAD3 | c.510G>C (p.Gln170His) c.780G>C (p.Gln260His) c.1206G>C (p.Gln402His) c.1095G>C (p.Gln365His) n.798G>C c.963G>C (p.Gln321His) n.789G>C n.283-5423G>C c.287G>C c.948G>C (p.Gln316His) | |
| 15 | g.67187450G>T | CA392958239 | SMAD3 | c.510G>T (p.Gln170His) c.780G>T (p.Gln260His) c.1206G>T (p.Gln402His) c.1095G>T (p.Gln365His) n.798G>T c.963G>T (p.Gln321His) n.789G>T n.283-5423G>T c.287G>T c.948G>T (p.Gln316His) | gnomAD v4 |
| 15 | g.67187451T>A | CA392958240 | SMAD3 | c.511T>A (p.Leu171Met) c.781T>A (p.Leu261Met) c.1207T>A (p.Leu403Met) c.1096T>A (p.Leu366Met) n.799T>A c.964T>A (p.Leu322Met) n.790T>A n.283-5422T>A c.288T>A c.949T>A (p.Leu317Met) | |
| 15 | g.67187451T>C | CA490917726 | SMAD3 | c.511T>C (p.Leu171=) c.781T>C (p.Leu261=) c.1207T>C (p.Leu403=) c.1096T>C (p.Leu366=) n.799T>C c.964T>C (p.Leu322=) n.790T>C n.283-5422T>C c.288T>C c.949T>C (p.Leu317=) | |
| 15 | g.67187451T>G | CA392958241 | SMAD3 | c.511T>G (p.Leu171Val) c.781T>G (p.Leu261Val) c.1207T>G (p.Leu403Val) c.1096T>G (p.Leu366Val) n.799T>G c.964T>G (p.Leu322Val) n.790T>G n.283-5422T>G c.288T>G c.949T>G (p.Leu317Val) | |
| 15 | g.67187451_67187452del | CA2695220929 | SMAD3 | c.511_512del (p.Leu171AspfsTer?) c.781_782del (p.Leu261AspfsTer?) c.1207_1208del (p.Leu403AspfsTer?) c.1096_1097del (p.Leu366AspfsTer?) n.799_800del c.964_965del (p.Leu322AspfsTer?) n.790_791del n.283-5422_283-5421del c.288_289del c.949_950del (p.Leu317AspfsTer?) | |
| 15 | g.67187452T>A | CA392958242 | SMAD3 | c.512T>A (p.Leu171Ter) c.782T>A (p.Leu261Ter) c.1208T>A (p.Leu403Ter) c.1097T>A (p.Leu366Ter) n.800T>A c.965T>A (p.Leu322Ter) n.791T>A n.283-5421T>A c.289T>A c.950T>A (p.Leu317Ter) | |
| 15 | g.67187452T>C | CA392958243 | SMAD3 | c.512T>C (p.Leu171Ser) c.782T>C (p.Leu261Ser) c.1208T>C (p.Leu403Ser) c.1097T>C (p.Leu366Ser) n.800T>C c.965T>C (p.Leu322Ser) n.791T>C n.283-5421T>C c.289T>C c.950T>C (p.Leu317Ser) | |
| 15 | g.67187452T>G | CA392958244 | SMAD3 | c.512T>G (p.Leu171Trp) c.782T>G (p.Leu261Trp) c.1208T>G (p.Leu403Trp) c.1097T>G (p.Leu366Trp) n.800T>G c.965T>G (p.Leu322Trp) n.791T>G n.283-5421T>G c.289T>G c.950T>G (p.Leu317Trp) | |
| 15 | g.67187453G>A | CA490917734 | SMAD3 | c.513G>A (p.Leu171=) c.783G>A (p.Leu261=) c.1209G>A (p.Leu403=) c.1098G>A (p.Leu366=) n.801G>A c.966G>A (p.Leu322=) n.792G>A n.283-5420G>A c.290G>A c.951G>A (p.Leu317=) | |
| 15 | g.67187453G>C | CA392958245 | SMAD3 | c.513G>C (p.Leu171Phe) c.783G>C (p.Leu261Phe) c.1209G>C (p.Leu403Phe) c.1098G>C (p.Leu366Phe) n.801G>C c.966G>C (p.Leu322Phe) n.792G>C n.283-5420G>C c.290G>C c.951G>C (p.Leu317Phe) | |
| 15 | g.67187453G>T | CA392958246 | SMAD3 | c.513G>T (p.Leu171Phe) c.783G>T (p.Leu261Phe) c.1209G>T (p.Leu403Phe) c.1098G>T (p.Leu366Phe) n.801G>T c.966G>T (p.Leu322Phe) n.792G>T n.283-5420G>T c.290G>T c.951G>T (p.Leu317Phe) | gnomAD v4 |
| 15 | g.67187454A>C | CA392958247 | SMAD3 | c.514A>C (p.Thr172Pro) c.784A>C (p.Thr262Pro) c.1210A>C (p.Thr404Pro) c.1099A>C (p.Thr367Pro) n.802A>C c.967A>C (p.Thr323Pro) n.793A>C n.283-5419A>C c.291A>C c.952A>C (p.Thr318Pro) | ClinVar |
| 15 | g.67187454A>G | CA392958248 | SMAD3 | c.514A>G (p.Thr172Ala) c.784A>G (p.Thr262Ala) c.1210A>G (p.Thr404Ala) c.1099A>G (p.Thr367Ala) n.802A>G c.967A>G (p.Thr323Ala) n.793A>G n.283-5419A>G c.291A>G c.952A>G (p.Thr318Ala) | |
| 15 | g.67187454A>T | CA392958249 | SMAD3 | c.514A>T (p.Thr172Ser) c.784A>T (p.Thr262Ser) c.1210A>T (p.Thr404Ser) c.1099A>T (p.Thr367Ser) n.802A>T c.967A>T (p.Thr323Ser) n.793A>T n.283-5419A>T c.291A>T c.952A>T (p.Thr318Ser) | |
| 15 | g.67187455C>A | CA392958252 | SMAD3 | c.515C>A (p.Thr172Asn) c.785C>A (p.Thr262Asn) c.1211C>A (p.Thr404Asn) c.1100C>A (p.Thr367Asn) n.803C>A c.968C>A (p.Thr323Asn) n.794C>A n.283-5418C>A c.292C>A c.953C>A (p.Thr318Asn) | |
| 15 | g.67187455C>G | CA392958250 | SMAD3 | c.515C>G (p.Thr172Ser) c.785C>G (p.Thr262Ser) c.1211C>G (p.Thr404Ser) c.1100C>G (p.Thr367Ser) n.803C>G c.968C>G (p.Thr323Ser) n.794C>G n.283-5418C>G c.292C>G c.953C>G (p.Thr318Ser) | |
| 15 | g.67187455C>T | CA392958251 | SMAD3 | c.515C>T (p.Thr172Ile) c.785C>T (p.Thr262Ile) c.1211C>T (p.Thr404Ile) c.1100C>T (p.Thr367Ile) n.803C>T c.968C>T (p.Thr323Ile) n.794C>T n.283-5418C>T c.292C>T c.953C>T (p.Thr318Ile) | dbSNP |
| 15 | g.67187456C>A | CA490917745 | SMAD3 | c.516C>A (p.Thr172=) c.786C>A (p.Thr262=) c.1212C>A (p.Thr404=) c.1101C>A (p.Thr367=) n.804C>A c.969C>A (p.Thr323=) n.795C>A n.283-5417C>A c.293C>A c.954C>A (p.Thr318=) | |
| 15 | g.67187456C>G | CA490917748 | SMAD3 | c.516C>G (p.Thr172=) c.786C>G (p.Thr262=) c.1212C>G (p.Thr404=) c.1101C>G (p.Thr367=) n.804C>G c.969C>G (p.Thr323=) n.795C>G n.283-5417C>G c.293C>G c.954C>G (p.Thr318=) | |
| 15 | g.67187456C>T | CA490917749 | SMAD3 | c.516C>T (p.Thr172=) c.786C>T (p.Thr262=) c.1212C>T (p.Thr404=) c.1101C>T (p.Thr367=) n.804C>T c.969C>T (p.Thr323=) n.795C>T n.283-5417C>T c.293C>T c.954C>T (p.Thr318=) | |
| 15 | g.67187457C>A | CA061596 | SMAD3 | c.517C>A (p.Arg173=) c.787C>A (p.Arg263=) c.1213C>A (p.Arg405=) c.1102C>A (p.Arg368=) n.805C>A c.970C>A (p.Arg324=) n.796C>A n.283-5416C>A c.294C>A c.955C>A (p.Arg319=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.67187457C= | CA2184420929 | SMAD3 | c.517C= (p.Arg173=) c.787C= (p.Arg263=) c.1213C= (p.Arg405=) c.1102C= (p.Arg368=) n.805C= c.970C= (p.Arg324=) n.796C= n.283-5416C= c.294C= c.955C= (p.Arg319=) | |
| 15 | g.67187457C>G | CA392958253 | SMAD3 | c.517C>G (p.Arg173Gly) c.787C>G (p.Arg263Gly) c.1213C>G (p.Arg405Gly) c.1102C>G (p.Arg368Gly) n.805C>G c.970C>G (p.Arg324Gly) n.796C>G n.283-5416C>G c.294C>G c.955C>G (p.Arg319Gly) | ClinVar dbSNP |
| 15 | g.67187457C>T | CA16619995 | SMAD3 | c.517C>T (p.Arg173Ter) c.787C>T (p.Arg263Ter) c.1213C>T (p.Arg405Ter) c.1102C>T (p.Arg368Ter) n.805C>T c.970C>T (p.Arg324Ter) n.796C>T n.283-5416C>T c.294C>T c.955C>T (p.Arg319Ter) | ClinVar dbSNP COSMIC COSMIC |
| 15 | g.67187458G>A | CA392958254 | SMAD3 | c.518G>A (p.Arg173Gln) c.788G>A (p.Arg263Gln) c.1214G>A (p.Arg405Gln) c.1103G>A (p.Arg368Gln) n.806G>A c.971G>A (p.Arg324Gln) n.797G>A n.283-5415G>A c.295G>A c.956G>A (p.Arg319Gln) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 15 | g.67187458G>C | CA392958255 | SMAD3 | c.518G>C (p.Arg173Pro) c.788G>C (p.Arg263Pro) c.1214G>C (p.Arg405Pro) c.1103G>C (p.Arg368Pro) n.806G>C c.971G>C (p.Arg324Pro) n.797G>C n.283-5415G>C c.295G>C c.956G>C (p.Arg319Pro) | |
| 15 | g.67187458G= | CA2184420930 | SMAD3 | c.518G= (p.Arg173=) c.788G= (p.Arg263=) c.1214G= (p.Arg405=) c.1103G= (p.Arg368=) n.806G= c.971G= (p.Arg324=) n.797G= n.283-5415G= c.295G= c.956G= (p.Arg319=) | |
| 15 | g.67187458G>T | CA392958256 | SMAD3 | c.518G>T (p.Arg173Leu) c.788G>T (p.Arg263Leu) c.1214G>T (p.Arg405Leu) c.1103G>T (p.Arg368Leu) n.806G>T c.971G>T (p.Arg324Leu) n.797G>T n.283-5415G>T c.295G>T c.956G>T (p.Arg319Leu) | |
| 15 | g.67187459A>C | CA490917757 | SMAD3 | c.519A>C (p.Arg173=) c.789A>C (p.Arg263=) c.1215A>C (p.Arg405=) c.1104A>C (p.Arg368=) n.807A>C c.972A>C (p.Arg324=) n.798A>C n.283-5414A>C c.296A>C c.957A>C (p.Arg319=) | |
| 15 | g.67187459A>G | CA490917761 | SMAD3 | c.519A>G (p.Arg173=) c.789A>G (p.Arg263=) c.1215A>G (p.Arg405=) c.1104A>G (p.Arg368=) n.807A>G c.972A>G (p.Arg324=) n.798A>G n.283-5414A>G c.296A>G c.957A>G (p.Arg319=) | |
| 15 | g.67187459A>T | CA490917763 | SMAD3 | c.519A>T (p.Arg173=) c.789A>T (p.Arg263=) c.1215A>T (p.Arg405=) c.1104A>T (p.Arg368=) n.807A>T c.972A>T (p.Arg324=) n.798A>T n.283-5414A>T c.296A>T c.957A>T (p.Arg319=) | |
| 15 | g.67187460A= | CA2184420931 | SMAD3 | c.520A= (p.Met174=) c.790A= (p.Met264=) c.1216A= (p.Met406=) c.1105A= (p.Met369=) n.808A= c.973A= (p.Met325=) n.799A= n.283-5413A= c.297A= c.958A= (p.Met320=) | |
| 15 | g.67187460A>C | CA392958257 | SMAD3 | c.520A>C (p.Met174Leu) c.790A>C (p.Met264Leu) c.1216A>C (p.Met406Leu) c.1105A>C (p.Met369Leu) n.808A>C c.973A>C (p.Met325Leu) n.799A>C n.283-5413A>C c.297A>C c.958A>C (p.Met320Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.67187460A>G | CA392958258 | SMAD3 | c.520A>G (p.Met174Val) c.790A>G (p.Met264Val) c.1216A>G (p.Met406Val) c.1105A>G (p.Met369Val) n.808A>G c.973A>G (p.Met325Val) n.799A>G n.283-5413A>G c.297A>G c.958A>G (p.Met320Val) | |
| 15 | g.67187460A>T | CA392958259 | SMAD3 | c.520A>T (p.Met174Leu) c.790A>T (p.Met264Leu) c.1216A>T (p.Met406Leu) c.1105A>T (p.Met369Leu) n.808A>T c.973A>T (p.Met325Leu) n.799A>T n.283-5413A>T c.297A>T c.958A>T (p.Met320Leu) | |
| 15 | g.67187461T>A | CA392958260 | SMAD3 | c.521T>A (p.Met174Lys) c.791T>A (p.Met264Lys) c.1217T>A (p.Met406Lys) c.1106T>A (p.Met369Lys) n.809T>A c.974T>A (p.Met325Lys) n.800T>A n.283-5412T>A c.298T>A c.959T>A (p.Met320Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.67187461T>C | CA392958261 | SMAD3 | c.521T>C (p.Met174Thr) c.791T>C (p.Met264Thr) c.1217T>C (p.Met406Thr) c.1106T>C (p.Met369Thr) n.809T>C c.974T>C (p.Met325Thr) n.800T>C n.283-5412T>C c.298T>C c.959T>C (p.Met320Thr) | |
| 15 | g.67187461T>G | CA392958262 | SMAD3 | c.521T>G (p.Met174Arg) c.791T>G (p.Met264Arg) c.1217T>G (p.Met406Arg) c.1106T>G (p.Met369Arg) n.809T>G c.974T>G (p.Met325Arg) n.800T>G n.283-5412T>G c.298T>G c.959T>G (p.Met320Arg) | |
| 15 | g.67187461T= | CA2184420932 | SMAD3 | c.521T= (p.Met174=) c.791T= (p.Met264=) c.1217T= (p.Met406=) c.1106T= (p.Met369=) n.809T= c.974T= (p.Met325=) n.800T= n.283-5412T= c.298T= c.959T= (p.Met320=) | |
| 15 | g.67187462G>A | CA392958264 | SMAD3 | c.522G>A (p.Met174Ile) c.792G>A (p.Met264Ile) c.1218G>A (p.Met406Ile) c.1107G>A (p.Met369Ile) n.810G>A c.975G>A (p.Met325Ile) n.801G>A n.283-5411G>A c.299G>A c.960G>A (p.Met320Ile) | |
| 15 | g.67187462G>C | CA392958265 | SMAD3 | c.522G>C (p.Met174Ile) c.792G>C (p.Met264Ile) c.1218G>C (p.Met406Ile) c.1107G>C (p.Met369Ile) n.810G>C c.975G>C (p.Met325Ile) n.801G>C n.283-5411G>C c.299G>C c.960G>C (p.Met320Ile) | |
| 15 | g.67187462G>T | CA392958263 | SMAD3 | c.522G>T (p.Met174Ile) c.792G>T (p.Met264Ile) c.1218G>T (p.Met406Ile) c.1107G>T (p.Met369Ile) n.810G>T c.975G>T (p.Met325Ile) n.801G>T n.283-5411G>T c.299G>T c.960G>T (p.Met320Ile) | |
| 15 | g.67187463T>A | CA392958267 | SMAD3 | c.523T>A (p.Cys175Ser) c.793T>A (p.Cys265Ser) c.1219T>A (p.Cys407Ser) c.1108T>A (p.Cys370Ser) n.811T>A c.976T>A (p.Cys326Ser) n.802T>A n.283-5410T>A c.300T>A c.961T>A (p.Cys321Ser) | |
| 15 | g.67187463T>C | CA392958266 | SMAD3 | c.523T>C (p.Cys175Arg) c.793T>C (p.Cys265Arg) c.1219T>C (p.Cys407Arg) c.1108T>C (p.Cys370Arg) n.811T>C c.976T>C (p.Cys326Arg) n.802T>C n.283-5410T>C c.300T>C c.961T>C (p.Cys321Arg) | |
| 15 | g.67187463T>G | CA392958268 | SMAD3 | c.523T>G (p.Cys175Gly) c.793T>G (p.Cys265Gly) c.1219T>G (p.Cys407Gly) c.1108T>G (p.Cys370Gly) n.811T>G c.976T>G (p.Cys326Gly) n.802T>G n.283-5410T>G c.300T>G c.961T>G (p.Cys321Gly) | |
| 15 | g.67187464G>A | CA392958269 | SMAD3 | c.524G>A (p.Cys175Tyr) c.794G>A (p.Cys265Tyr) c.1220G>A (p.Cys407Tyr) c.1109G>A (p.Cys370Tyr) n.812G>A c.977G>A (p.Cys326Tyr) n.803G>A n.283-5409G>A c.301G>A c.962G>A (p.Cys321Tyr) | dbSNP |
| 15 | g.67187464G>C | CA392958270 | SMAD3 | c.524G>C (p.Cys175Ser) c.794G>C (p.Cys265Ser) c.1220G>C (p.Cys407Ser) c.1109G>C (p.Cys370Ser) n.812G>C c.977G>C (p.Cys326Ser) n.803G>C n.283-5409G>C c.301G>C c.962G>C (p.Cys321Ser) | |
| 15 | g.67187464G>T | CA392958271 | SMAD3 | c.524G>T (p.Cys175Phe) c.794G>T (p.Cys265Phe) c.1220G>T (p.Cys407Phe) c.1109G>T (p.Cys370Phe) n.812G>T c.977G>T (p.Cys326Phe) n.803G>T n.283-5409G>T c.301G>T c.962G>T (p.Cys321Phe) | |
| 15 | g.67187465C>A | CA392958272 | SMAD3 | c.525C>A (p.Cys175Ter) c.795C>A (p.Cys265Ter) c.1221C>A (p.Cys407Ter) c.1110C>A (p.Cys370Ter) n.813C>A c.978C>A (p.Cys326Ter) n.804C>A n.283-5408C>A c.302C>A c.963C>A (p.Cys321Ter) | |
| 15 | g.67187465C= | CA2184420933 | SMAD3 | c.525C= (p.Cys175=) c.795C= (p.Cys265=) c.1221C= (p.Cys407=) c.1110C= (p.Cys370=) n.813C= c.978C= (p.Cys326=) n.804C= n.283-5408C= c.302C= c.963C= (p.Cys321=) | |
| 15 | g.67187465C>G | CA392958273 | SMAD3 | c.525C>G (p.Cys175Trp) c.795C>G (p.Cys265Trp) c.1221C>G (p.Cys407Trp) c.1110C>G (p.Cys370Trp) n.813C>G c.978C>G (p.Cys326Trp) n.804C>G n.283-5408C>G c.302C>G c.963C>G (p.Cys321Trp) | |
| 15 | g.67187465C>T | CA490918180 | SMAD3 | c.525C>T (p.Cys175=) c.795C>T (p.Cys265=) c.1221C>T (p.Cys407=) c.1110C>T (p.Cys370=) n.813C>T c.978C>T (p.Cys326=) n.804C>T n.283-5408C>T c.302C>T c.963C>T (p.Cys321=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.67187466A>C | CA392958274 | SMAD3 | c.526A>C (p.Thr176Pro) c.796A>C (p.Thr266Pro) c.1222A>C (p.Thr408Pro) c.1111A>C (p.Thr371Pro) n.814A>C c.979A>C (p.Thr327Pro) n.805A>C n.283-5407A>C c.303A>C c.964A>C (p.Thr322Pro) | |
| 15 | g.67187466A>G | CA392958275 | SMAD3 | c.526A>G (p.Thr176Ala) c.796A>G (p.Thr266Ala) c.1222A>G (p.Thr408Ala) c.1111A>G (p.Thr371Ala) n.814A>G c.979A>G (p.Thr327Ala) n.805A>G n.283-5407A>G c.303A>G c.964A>G (p.Thr322Ala) | |
| 15 | g.67187466A>T | CA392958276 | SMAD3 | c.526A>T (p.Thr176Ser) c.796A>T (p.Thr266Ser) c.1222A>T (p.Thr408Ser) c.1111A>T (p.Thr371Ser) n.814A>T c.979A>T (p.Thr327Ser) n.805A>T n.283-5407A>T c.303A>T c.964A>T (p.Thr322Ser) | |
| 15 | g.67187467C>A | CA392958277 | SMAD3 | c.527C>A (p.Thr176Asn) c.797C>A (p.Thr266Asn) c.1223C>A (p.Thr408Asn) c.1112C>A (p.Thr371Asn) n.815C>A c.980C>A (p.Thr327Asn) n.806C>A n.283-5406C>A c.304C>A c.965C>A (p.Thr322Asn) | ClinVar dbSNP |
| 15 | g.67187467C= | CA2184420934 | SMAD3 | c.527C= (p.Thr176=) c.797C= (p.Thr266=) c.1223C= (p.Thr408=) c.1112C= (p.Thr371=) n.815C= c.980C= (p.Thr327=) n.806C= n.283-5406C= c.304C= c.965C= (p.Thr322=) | |
| 15 | g.67187467C>G | CA392958278 | SMAD3 | c.527C>G (p.Thr176Ser) c.797C>G (p.Thr266Ser) c.1223C>G (p.Thr408Ser) c.1112C>G (p.Thr371Ser) n.815C>G c.980C>G (p.Thr327Ser) n.806C>G n.283-5406C>G c.304C>G c.965C>G (p.Thr322Ser) | |
| 15 | g.67187467C>T | CA392958279 | SMAD3 | c.527C>T (p.Thr176Ile) c.797C>T (p.Thr266Ile) c.1223C>T (p.Thr408Ile) c.1112C>T (p.Thr371Ile) n.815C>T c.980C>T (p.Thr327Ile) n.806C>T n.283-5406C>T c.304C>T c.965C>T (p.Thr322Ile) | dbSNP gnomAD v4 |
| 15 | g.67187468C>A | CA490918188 | SMAD3 | c.528C>A (p.Thr176=) c.798C>A (p.Thr266=) c.1224C>A (p.Thr408=) c.1113C>A (p.Thr371=) n.816C>A c.981C>A (p.Thr327=) n.807C>A n.283-5405C>A c.305C>A c.966C>A (p.Thr322=) | |
| 15 | g.67187468C>G | CA490918190 | SMAD3 | c.528C>G (p.Thr176=) c.798C>G (p.Thr266=) c.1224C>G (p.Thr408=) c.1113C>G (p.Thr371=) n.816C>G c.981C>G (p.Thr327=) n.807C>G n.283-5405C>G c.305C>G c.966C>G (p.Thr322=) | |
| 15 | g.67187468C>T | CA490918192 | SMAD3 | c.528C>T (p.Thr176=) c.798C>T (p.Thr266=) c.1224C>T (p.Thr408=) c.1113C>T (p.Thr371=) n.816C>T c.981C>T (p.Thr327=) n.807C>T n.283-5405C>T c.305C>T c.966C>T (p.Thr322=) | |
| 15 | g.67187469A>C | CA392958282 | SMAD3 | c.529A>C (p.Ile177Leu) c.799A>C (p.Ile267Leu) c.1225A>C (p.Ile409Leu) c.1114A>C (p.Ile372Leu) n.817A>C c.982A>C (p.Ile328Leu) n.808A>C n.283-5404A>C c.306A>C c.967A>C (p.Ile323Leu) | dbSNP |
| 15 | g.67187469A>G | CA392958281 | SMAD3 | c.529A>G (p.Ile177Val) c.799A>G (p.Ile267Val) c.1225A>G (p.Ile409Val) c.1114A>G (p.Ile372Val) n.817A>G c.982A>G (p.Ile328Val) n.808A>G n.283-5404A>G c.306A>G c.967A>G (p.Ile323Val) | |
| 15 | g.67187469A>T | CA392958280 | SMAD3 | c.529A>T (p.Ile177Phe) c.799A>T (p.Ile267Phe) c.1225A>T (p.Ile409Phe) c.1114A>T (p.Ile372Phe) n.817A>T c.982A>T (p.Ile328Phe) n.808A>T n.283-5404A>T c.306A>T c.967A>T (p.Ile323Phe) | |
| 15 | g.67187470T>A | CA392958283 | SMAD3 | c.530T>A (p.Ile177Asn) c.800T>A (p.Ile267Asn) c.1226T>A (p.Ile409Asn) c.1115T>A (p.Ile372Asn) n.818T>A c.983T>A (p.Ile328Asn) n.809T>A n.283-5403T>A c.307T>A c.968T>A (p.Ile323Asn) | |
| 15 | g.67187470T>C | CA392958284 | SMAD3 | c.530T>C (p.Ile177Thr) c.800T>C (p.Ile267Thr) c.1226T>C (p.Ile409Thr) c.1115T>C (p.Ile372Thr) n.818T>C c.983T>C (p.Ile328Thr) n.809T>C n.283-5403T>C c.307T>C c.968T>C (p.Ile323Thr) | |
| 15 | g.67187470T>G | CA392958285 | SMAD3 | c.530T>G (p.Ile177Ser) c.800T>G (p.Ile267Ser) c.1226T>G (p.Ile409Ser) c.1115T>G (p.Ile372Ser) n.818T>G c.983T>G (p.Ile328Ser) n.809T>G n.283-5403T>G c.307T>G c.968T>G (p.Ile323Ser) | |
| 15 | g.67187471C>A | CA490918222 | SMAD3 | c.531C>A (p.Ile177=) c.801C>A (p.Ile267=) c.1227C>A (p.Ile409=) c.1116C>A (p.Ile372=) n.819C>A c.984C>A (p.Ile328=) n.810C>A n.283-5402C>A c.308C>A c.969C>A (p.Ile323=) | |
| 15 | g.67187471C>G | CA392958286 | SMAD3 | c.531C>G (p.Ile177Met) c.801C>G (p.Ile267Met) c.1227C>G (p.Ile409Met) c.1116C>G (p.Ile372Met) n.819C>G c.984C>G (p.Ile328Met) n.810C>G n.283-5402C>G c.308C>G c.969C>G (p.Ile323Met) | gnomAD v4 |
| 15 | g.67187471C>T | CA490918225 | SMAD3 | c.531C>T (p.Ile177=) c.801C>T (p.Ile267=) c.1227C>T (p.Ile409=) c.1116C>T (p.Ile372=) n.819C>T c.984C>T (p.Ile328=) n.810C>T n.283-5402C>T c.308C>T c.969C>T (p.Ile323=) | |
| 15 | g.67187472C>A | CA392958287 | SMAD3 | c.532C>A (p.Arg178Ser) c.802C>A (p.Arg268Ser) c.1228C>A (p.Arg410Ser) c.1117C>A (p.Arg373Ser) n.820C>A c.985C>A (p.Arg329Ser) n.811C>A n.283-5401C>A c.309C>A c.970C>A (p.Arg324Ser) | ClinVar dbSNP |
| 15 | g.67187472C= | CA2184420935 | SMAD3 | c.532C= (p.Arg178=) c.802C= (p.Arg268=) c.1228C= (p.Arg410=) c.1117C= (p.Arg373=) n.820C= c.985C= (p.Arg329=) n.811C= n.283-5401C= c.309C= c.970C= (p.Arg324=) | |
| 15 | g.67187472C>G | CA392958288 | SMAD3 | c.532C>G (p.Arg178Gly) c.802C>G (p.Arg268Gly) c.1228C>G (p.Arg410Gly) c.1117C>G (p.Arg373Gly) n.820C>G c.985C>G (p.Arg329Gly) n.811C>G n.283-5401C>G c.309C>G c.970C>G (p.Arg324Gly) | |
| 15 | g.67187472C>T | CA324404 | SMAD3 | c.532C>T (p.Arg178Cys) c.802C>T (p.Arg268Cys) c.1228C>T (p.Arg410Cys) c.1117C>T (p.Arg373Cys) n.820C>T c.985C>T (p.Arg329Cys) n.811C>T n.283-5401C>T c.309C>T c.970C>T (p.Arg324Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.67187473G>A | CA16614552 | SMAD3 | c.533G>A (p.Arg178His) c.803G>A (p.Arg268His) c.1229G>A (p.Arg410His) c.1118G>A (p.Arg373His) n.821G>A c.986G>A (p.Arg329His) n.812G>A n.283-5400G>A c.310G>A c.971G>A (p.Arg324His) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 15 | g.67187473G>C | CA392958289 | SMAD3 | c.533G>C (p.Arg178Pro) c.803G>C (p.Arg268Pro) c.1229G>C (p.Arg410Pro) c.1118G>C (p.Arg373Pro) n.821G>C c.986G>C (p.Arg329Pro) n.812G>C n.283-5400G>C c.310G>C c.971G>C (p.Arg324Pro) | |
| 15 | g.67187473G= | CA2184420936 | SMAD3 | c.533G= (p.Arg178=) c.803G= (p.Arg268=) c.1229G= (p.Arg410=) c.1118G= (p.Arg373=) n.821G= c.986G= (p.Arg329=) n.812G= n.283-5400G= c.310G= c.971G= (p.Arg324=) | |
| 15 | g.67187473G>T | CA392958290 | SMAD3 | c.533G>T (p.Arg178Leu) c.803G>T (p.Arg268Leu) c.1229G>T (p.Arg410Leu) c.1118G>T (p.Arg373Leu) n.821G>T c.986G>T (p.Arg329Leu) n.812G>T n.283-5400G>T c.310G>T c.971G>T (p.Arg324Leu) | ClinVar dbSNP COSMIC COSMIC |
| 15 | g.67187474C>A | CA490918242 | SMAD3 | c.534C>A (p.Arg178=) c.804C>A (p.Arg268=) c.1230C>A (p.Arg410=) c.1119C>A (p.Arg373=) n.822C>A c.987C>A (p.Arg329=) n.813C>A n.283-5399C>A c.311C>A c.972C>A (p.Arg324=) | |
| 15 | g.67187474C>G | CA490918243 | SMAD3 | c.534C>G (p.Arg178=) c.804C>G (p.Arg268=) c.1230C>G (p.Arg410=) c.1119C>G (p.Arg373=) n.822C>G c.987C>G (p.Arg329=) n.813C>G n.283-5399C>G c.311C>G c.972C>G (p.Arg324=) | |
| 15 | g.67187474C>T | CA490918249 | SMAD3 | c.534C>T (p.Arg178=) c.804C>T (p.Arg268=) c.1230C>T (p.Arg410=) c.1119C>T (p.Arg373=) n.822C>T c.987C>T (p.Arg329=) n.813C>T n.283-5399C>T c.311C>T c.972C>T (p.Arg324=) | gnomAD v4 |
| 15 | g.67187475A= | CA2184420937 | SMAD3 | c.535A= (p.Met179=) c.805A= (p.Met269=) c.1231A= (p.Met411=) c.1120A= (p.Met374=) n.823A= c.988A= (p.Met330=) n.814A= n.283-5398A= c.312A= c.973A= (p.Met325=) | |
| 15 | g.67187475A>C | CA392958291 | SMAD3 | c.535A>C (p.Met179Leu) c.805A>C (p.Met269Leu) c.1231A>C (p.Met411Leu) c.1120A>C (p.Met374Leu) n.823A>C c.988A>C (p.Met330Leu) n.814A>C n.283-5398A>C c.312A>C c.973A>C (p.Met325Leu) | |
| 15 | g.67187475A>G | CA272396734 | SMAD3 | c.535A>G (p.Met179Val) c.805A>G (p.Met269Val) c.1231A>G (p.Met411Val) c.1120A>G (p.Met374Val) n.823A>G c.988A>G (p.Met330Val) n.814A>G n.283-5398A>G c.312A>G c.973A>G (p.Met325Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.67187475A>T | CA392958292 | SMAD3 | c.535A>T (p.Met179Leu) c.805A>T (p.Met269Leu) c.1231A>T (p.Met411Leu) c.1120A>T (p.Met374Leu) n.823A>T c.988A>T (p.Met330Leu) n.814A>T n.283-5398A>T c.312A>T c.973A>T (p.Met325Leu) | |
| 15 | g.67187476T>A | CA392958295 | SMAD3 | c.536T>A (p.Met179Lys) c.806T>A (p.Met269Lys) c.1232T>A (p.Met411Lys) c.1121T>A (p.Met374Lys) n.824T>A c.989T>A (p.Met330Lys) n.815T>A n.283-5397T>A c.313T>A c.974T>A (p.Met325Lys) | ClinVar dbSNP |
| 15 | g.67187476T>C | CA392958294 | SMAD3 | c.536T>C (p.Met179Thr) c.806T>C (p.Met269Thr) c.1232T>C (p.Met411Thr) c.1121T>C (p.Met374Thr) n.824T>C c.989T>C (p.Met330Thr) n.815T>C n.283-5397T>C c.313T>C c.974T>C (p.Met325Thr) | |
| 15 | g.67187476T>G | CA392958293 | SMAD3 | c.536T>G (p.Met179Arg) c.806T>G (p.Met269Arg) c.1232T>G (p.Met411Arg) c.1121T>G (p.Met374Arg) n.824T>G c.989T>G (p.Met330Arg) n.815T>G n.283-5397T>G c.313T>G c.974T>G (p.Met325Arg) | gnomAD v4 |
| 15 | g.67187476T= | CA2184420938 | SMAD3 | c.536T= (p.Met179=) c.806T= (p.Met269=) c.1232T= (p.Met411=) c.1121T= (p.Met374=) n.824T= c.989T= (p.Met330=) n.815T= n.283-5397T= c.313T= c.974T= (p.Met325=) | |
| 15 | g.67187477G>A | CA392958298 | SMAD3 | c.537G>A (p.Met179Ile) c.807G>A (p.Met269Ile) c.1233G>A (p.Met411Ile) c.1122G>A (p.Met374Ile) n.825G>A c.990G>A (p.Met330Ile) n.816G>A n.283-5396G>A c.314G>A c.975G>A (p.Met325Ile) | |
| 15 | g.67187477G>C | CA392958296 | SMAD3 | c.537G>C (p.Met179Ile) c.807G>C (p.Met269Ile) c.1233G>C (p.Met411Ile) c.1122G>C (p.Met374Ile) n.825G>C c.990G>C (p.Met330Ile) n.816G>C n.283-5396G>C c.314G>C c.975G>C (p.Met325Ile) | |
| 15 | g.67187477G>T | CA392958297 | SMAD3 | c.537G>T (p.Met179Ile) c.807G>T (p.Met269Ile) c.1233G>T (p.Met411Ile) c.1122G>T (p.Met374Ile) n.825G>T c.990G>T (p.Met330Ile) n.816G>T n.283-5396G>T c.314G>T c.975G>T (p.Met325Ile) | |
| 15 | g.67187478A>C | CA392958299 | SMAD3 | c.538A>C (p.Ser180Arg) c.808A>C (p.Ser270Arg) c.1234A>C (p.Ser412Arg) c.1123A>C (p.Ser375Arg) n.826A>C c.991A>C (p.Ser331Arg) n.817A>C n.283-5395A>C c.315A>C c.976A>C (p.Ser326Arg) | |
| 15 | g.67187478A>G | CA392958300 | SMAD3 | c.538A>G (p.Ser180Gly) c.808A>G (p.Ser270Gly) c.1234A>G (p.Ser412Gly) c.1123A>G (p.Ser375Gly) n.826A>G c.991A>G (p.Ser331Gly) n.817A>G n.283-5395A>G c.315A>G c.976A>G (p.Ser326Gly) | |
| 15 | g.67187478A>T | CA392958301 | SMAD3 | c.538A>T (p.Ser180Cys) c.808A>T (p.Ser270Cys) c.1234A>T (p.Ser412Cys) c.1123A>T (p.Ser375Cys) n.826A>T c.991A>T (p.Ser331Cys) n.817A>T n.283-5395A>T c.315A>T c.976A>T (p.Ser326Cys) | |
| 15 | g.67187479G>A | CA392958304 | SMAD3 | c.539G>A (p.Ser180Asn) c.809G>A (p.Ser270Asn) c.1235G>A (p.Ser412Asn) c.1124G>A (p.Ser375Asn) n.827G>A c.992G>A (p.Ser331Asn) n.818G>A n.283-5394G>A c.316G>A c.977G>A (p.Ser326Asn) | ClinVar dbSNP |
| 15 | g.67187479G>C | CA392958303 | SMAD3 | c.539G>C (p.Ser180Thr) c.809G>C (p.Ser270Thr) c.1235G>C (p.Ser412Thr) c.1124G>C (p.Ser375Thr) n.827G>C c.992G>C (p.Ser331Thr) n.818G>C n.283-5394G>C c.316G>C c.977G>C (p.Ser326Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.67187479G= | CA2184420939 | SMAD3 | c.539G= (p.Ser180=) c.809G= (p.Ser270=) c.1235G= (p.Ser412=) c.1124G= (p.Ser375=) n.827G= c.992G= (p.Ser331=) n.818G= n.283-5394G= c.316G= c.977G= (p.Ser326=) | |
| 15 | g.67187479G>T | CA392958302 | SMAD3 | c.539G>T (p.Ser180Ile) c.809G>T (p.Ser270Ile) c.1235G>T (p.Ser412Ile) c.1124G>T (p.Ser375Ile) n.827G>T c.992G>T (p.Ser331Ile) n.818G>T n.283-5394G>T c.316G>T c.977G>T (p.Ser326Ile) | ClinVar |
| 15 | g.67187480C>A | CA392958305 | SMAD3 | c.540C>A (p.Ser180Arg) c.810C>A (p.Ser270Arg) c.1236C>A (p.Ser412Arg) c.1125C>A (p.Ser375Arg) n.828C>A c.993C>A (p.Ser331Arg) n.819C>A n.283-5393C>A c.317C>A c.978C>A (p.Ser326Arg) | |
| 15 | g.67187480C= | CA2184420940 | SMAD3 | c.540C= (p.Ser180=) c.810C= (p.Ser270=) c.1236C= (p.Ser412=) c.1125C= (p.Ser375=) n.828C= c.993C= (p.Ser331=) n.819C= n.283-5393C= c.317C= c.978C= (p.Ser326=) | |
| 15 | g.67187480C>G | CA392958306 | SMAD3 | c.540C>G (p.Ser180Arg) c.810C>G (p.Ser270Arg) c.1236C>G (p.Ser412Arg) c.1125C>G (p.Ser375Arg) n.828C>G c.993C>G (p.Ser331Arg) n.819C>G n.283-5393C>G c.317C>G c.978C>G (p.Ser326Arg) | |
| 15 | g.67187480C>T | CA061601 | SMAD3 | c.540C>T (p.Ser180=) c.810C>T (p.Ser270=) c.1236C>T (p.Ser412=) c.1125C>T (p.Ser375=) n.828C>T c.993C>T (p.Ser331=) n.819C>T n.283-5393C>T c.317C>T c.978C>T (p.Ser326=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.67187481T>A | CA392958307 | SMAD3 | c.541T>A (p.Phe181Ile) c.811T>A (p.Phe271Ile) c.1237T>A (p.Phe413Ile) c.1126T>A (p.Phe376Ile) n.829T>A c.994T>A (p.Phe332Ile) n.820T>A n.283-5392T>A c.318T>A c.979T>A (p.Phe327Ile) | |
| 15 | g.67187481T>C | CA392958308 | SMAD3 | c.541T>C (p.Phe181Leu) c.811T>C (p.Phe271Leu) c.1237T>C (p.Phe413Leu) c.1126T>C (p.Phe376Leu) n.829T>C c.994T>C (p.Phe332Leu) n.820T>C n.283-5392T>C c.318T>C c.979T>C (p.Phe327Leu) | |
| 15 | g.67187481T>G | CA392958309 | SMAD3 | c.541T>G (p.Phe181Val) c.811T>G (p.Phe271Val) c.1237T>G (p.Phe413Val) c.1126T>G (p.Phe376Val) n.829T>G c.994T>G (p.Phe332Val) n.820T>G n.283-5392T>G c.318T>G c.979T>G (p.Phe327Val) | |
| 15 | g.67187482T>A | CA392958310 | SMAD3 | c.542T>A (p.Phe181Tyr) c.812T>A (p.Phe271Tyr) c.1238T>A (p.Phe413Tyr) c.1127T>A (p.Phe376Tyr) n.830T>A c.995T>A (p.Phe332Tyr) n.821T>A n.283-5391T>A c.319T>A c.980T>A (p.Phe327Tyr) | |
| 15 | g.67187482T>C | CA392958312 | SMAD3 | c.542T>C (p.Phe181Ser) c.812T>C (p.Phe271Ser) c.1238T>C (p.Phe413Ser) c.1127T>C (p.Phe376Ser) n.830T>C c.995T>C (p.Phe332Ser) n.821T>C n.283-5391T>C c.319T>C c.980T>C (p.Phe327Ser) | |
| 15 | g.67187482T>G | CA392958311 | SMAD3 | c.542T>G (p.Phe181Cys) c.812T>G (p.Phe271Cys) c.1238T>G (p.Phe413Cys) c.1127T>G (p.Phe376Cys) n.830T>G c.995T>G (p.Phe332Cys) n.821T>G n.283-5391T>G c.319T>G c.980T>G (p.Phe327Cys) | |
| 15 | g.67187483C>A | CA392958313 | SMAD3 | c.543C>A (p.Phe181Leu) c.813C>A (p.Phe271Leu) c.1239C>A (p.Phe413Leu) c.1128C>A (p.Phe376Leu) n.831C>A c.996C>A (p.Phe332Leu) n.822C>A n.283-5390C>A c.320C>A c.981C>A (p.Phe327Leu) | |
| 15 | g.67187483C= | CA2184420941 | SMAD3 | c.543C= (p.Phe181=) c.813C= (p.Phe271=) c.1239C= (p.Phe413=) c.1128C= (p.Phe376=) n.831C= c.996C= (p.Phe332=) n.822C= n.283-5390C= c.320C= c.981C= (p.Phe327=) | |
| 15 | g.67187483C>G | CA392958314 | SMAD3 | c.543C>G (p.Phe181Leu) c.813C>G (p.Phe271Leu) c.1239C>G (p.Phe413Leu) c.1128C>G (p.Phe376Leu) n.831C>G c.996C>G (p.Phe332Leu) n.822C>G n.283-5390C>G c.320C>G c.981C>G (p.Phe327Leu) | |
| 15 | g.67187483C>T | CA061608 | SMAD3 | c.543C>T (p.Phe181=) c.813C>T (p.Phe271=) c.1239C>T (p.Phe413=) c.1128C>T (p.Phe376=) n.831C>T c.996C>T (p.Phe332=) n.822C>T n.283-5390C>T c.320C>T c.981C>T (p.Phe327=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.67187484G>A | CA020043 | SMAD3 | c.544G>A (p.Val182Ile) c.814G>A (p.Val272Ile) c.1240G>A (p.Val414Ile) c.1129G>A (p.Val377Ile) n.832G>A c.997G>A (p.Val333Ile) n.823G>A n.283-5389G>A c.321G>A c.982G>A (p.Val328Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.67187484G>C | CA392958315 | SMAD3 | c.544G>C (p.Val182Leu) c.814G>C (p.Val272Leu) c.1240G>C (p.Val414Leu) c.1129G>C (p.Val377Leu) n.832G>C c.997G>C (p.Val333Leu) n.823G>C n.283-5389G>C c.321G>C c.982G>C (p.Val328Leu) | |
| 15 | g.67187484G= | CA2184420942 | SMAD3 | c.544G= (p.Val182=) c.814G= (p.Val272=) c.1240G= (p.Val414=) c.1129G= (p.Val377=) n.832G= c.997G= (p.Val333=) n.823G= n.283-5389G= c.321G= c.982G= (p.Val328=) | |
| 15 | g.67187484G>T | CA392958316 | SMAD3 | c.544G>T (p.Val182Phe) c.814G>T (p.Val272Phe) c.1240G>T (p.Val414Phe) c.1129G>T (p.Val377Phe) n.832G>T c.997G>T (p.Val333Phe) n.823G>T n.283-5389G>T c.321G>T c.982G>T (p.Val328Phe) | |
| 15 | g.67187485T>A | CA392958317 | SMAD3 | c.545T>A (p.Val182Asp) c.815T>A (p.Val272Asp) c.1241T>A (p.Val414Asp) c.1130T>A (p.Val377Asp) n.833T>A c.998T>A (p.Val333Asp) n.824T>A n.283-5388T>A c.322T>A c.983T>A (p.Val328Asp) | dbSNP |
| 15 | g.67187485T>C | CA392958318 | SMAD3 | c.545T>C (p.Val182Ala) c.815T>C (p.Val272Ala) c.1241T>C (p.Val414Ala) c.1130T>C (p.Val377Ala) n.833T>C c.998T>C (p.Val333Ala) n.824T>C n.283-5388T>C c.322T>C c.983T>C (p.Val328Ala) | |
| 15 | g.67187485T>G | CA392958319 | SMAD3 | c.545T>G (p.Val182Gly) c.815T>G (p.Val272Gly) c.1241T>G (p.Val414Gly) c.1130T>G (p.Val377Gly) n.833T>G c.998T>G (p.Val333Gly) n.824T>G n.283-5388T>G c.322T>G c.983T>G (p.Val328Gly) | dbSNP |
| 15 | g.67187485T= | CA2184420943 | SMAD3 | c.545T= (p.Val182=) c.815T= (p.Val272=) c.1241T= (p.Val414=) c.1130T= (p.Val377=) n.833T= c.998T= (p.Val333=) n.824T= n.283-5388T= c.322T= c.983T= (p.Val328=) | |
| 15 | g.67187486C>A | CA490918312 | SMAD3 | c.546C>A (p.Val182=) c.816C>A (p.Val272=) c.1242C>A (p.Val414=) c.1131C>A (p.Val377=) n.834C>A c.999C>A (p.Val333=) n.825C>A n.283-5387C>A c.323C>A c.984C>A (p.Val328=) | |
| 15 | g.67187486C>G | CA490918319 | SMAD3 | c.546C>G (p.Val182=) c.816C>G (p.Val272=) c.1242C>G (p.Val414=) c.1131C>G (p.Val377=) n.834C>G c.999C>G (p.Val333=) n.825C>G n.283-5387C>G c.323C>G c.984C>G (p.Val328=) | dbSNP |
| 15 | g.67187486C>T | CA490918320 | SMAD3 | c.546C>T (p.Val182=) c.816C>T (p.Val272=) c.1242C>T (p.Val414=) c.1131C>T (p.Val377=) n.834C>T c.999C>T (p.Val333=) n.825C>T n.283-5387C>T c.323C>T c.984C>T (p.Val328=) | |
| 15 | g.67187487A>C | CA392958320 | SMAD3 | c.547A>C (p.Lys183Gln) c.817A>C (p.Lys273Gln) c.1243A>C (p.Lys415Gln) c.1132A>C (p.Lys378Gln) n.835A>C c.1000A>C (p.Lys334Gln) n.826A>C n.283-5386A>C c.324A>C c.985A>C (p.Lys329Gln) | |
| 15 | g.67187487A>G | CA392958321 | SMAD3 | c.547A>G (p.Lys183Glu) c.817A>G (p.Lys273Glu) c.1243A>G (p.Lys415Glu) c.1132A>G (p.Lys378Glu) n.835A>G c.1000A>G (p.Lys334Glu) n.826A>G n.283-5386A>G c.324A>G c.985A>G (p.Lys329Glu) | ClinVar dbSNP |
| 15 | g.67187487A>T | CA392958322 | SMAD3 | c.547A>T (p.Lys183Ter) c.817A>T (p.Lys273Ter) c.1243A>T (p.Lys415Ter) c.1132A>T (p.Lys378Ter) n.835A>T c.1000A>T (p.Lys334Ter) n.826A>T n.283-5386A>T c.324A>T c.985A>T (p.Lys329Ter) | |
| 15 | g.67187488A>C | CA392958324 | SMAD3 | c.548A>C (p.Lys183Thr) c.818A>C (p.Lys273Thr) c.1244A>C (p.Lys415Thr) c.1133A>C (p.Lys378Thr) n.836A>C c.1001A>C (p.Lys334Thr) n.827A>C n.283-5385A>C c.325A>C c.986A>C (p.Lys329Thr) | |
| 15 | g.67187488A>G | CA392958325 | SMAD3 | c.548A>G (p.Lys183Arg) c.818A>G (p.Lys273Arg) c.1244A>G (p.Lys415Arg) c.1133A>G (p.Lys378Arg) n.836A>G c.1001A>G (p.Lys334Arg) n.827A>G n.283-5385A>G c.325A>G c.986A>G (p.Lys329Arg) | |
| 15 | g.67187488A>T | CA392958323 | SMAD3 | c.548A>T (p.Lys183Ile) c.818A>T (p.Lys273Ile) c.1244A>T (p.Lys415Ile) c.1133A>T (p.Lys378Ile) n.836A>T c.1001A>T (p.Lys334Ile) n.827A>T n.283-5385A>T c.325A>T c.986A>T (p.Lys329Ile) | |
| 15 | g.67187489A>C | CA392958326 | SMAD3 | c.549A>C (p.Lys183Asn) c.819A>C (p.Lys273Asn) c.1245A>C (p.Lys415Asn) c.1134A>C (p.Lys378Asn) n.837A>C c.1002A>C (p.Lys334Asn) n.828A>C n.283-5384A>C c.326A>C c.987A>C (p.Lys329Asn) | |
| 15 | g.67187489A>G | CA490918337 | SMAD3 | c.549A>G (p.Lys183=) c.819A>G (p.Lys273=) c.1245A>G (p.Lys415=) c.1134A>G (p.Lys378=) n.837A>G c.1002A>G (p.Lys334=) n.828A>G n.283-5384A>G c.326A>G c.987A>G (p.Lys329=) | |
| 15 | g.67187489A>T | CA392958327 | SMAD3 | c.549A>T (p.Lys183Asn) c.819A>T (p.Lys273Asn) c.1245A>T (p.Lys415Asn) c.1134A>T (p.Lys378Asn) n.837A>T c.1002A>T (p.Lys334Asn) n.828A>T n.283-5384A>T c.326A>T c.987A>T (p.Lys329Asn) | |
| 15 | g.67187490G>A | CA392958328 | SMAD3 | c.550G>A (p.Gly184Ser) c.820G>A (p.Gly274Ser) c.1246G>A (p.Gly416Ser) c.1135G>A (p.Gly379Ser) n.838G>A c.1003G>A (p.Gly335Ser) n.829G>A n.283-5383G>A c.327G>A c.988G>A (p.Gly330Ser) | ClinVar |
| 15 | g.67187490G>C | CA392958329 | SMAD3 | c.550G>C (p.Gly184Arg) c.820G>C (p.Gly274Arg) c.1246G>C (p.Gly416Arg) c.1135G>C (p.Gly379Arg) n.838G>C c.1003G>C (p.Gly335Arg) n.829G>C n.283-5383G>C c.327G>C c.988G>C (p.Gly330Arg) | |
| 15 | g.67187490G>T | CA392958330 | SMAD3 | c.550G>T (p.Gly184Cys) c.820G>T (p.Gly274Cys) c.1246G>T (p.Gly416Cys) c.1135G>T (p.Gly379Cys) n.838G>T c.1003G>T (p.Gly335Cys) n.829G>T n.283-5383G>T c.327G>T c.988G>T (p.Gly330Cys) | |
| 15 | g.67187491G>A | CA392958333 | SMAD3 | c.551G>A (p.Gly184Asp) c.821G>A (p.Gly274Asp) c.1247G>A (p.Gly416Asp) c.1136G>A (p.Gly379Asp) n.839G>A c.1004G>A (p.Gly335Asp) n.830G>A n.283-5382G>A c.328G>A c.989G>A (p.Gly330Asp) | |
| 15 | g.67187491G>C | CA392958332 | SMAD3 | c.551G>C (p.Gly184Ala) c.821G>C (p.Gly274Ala) c.1247G>C (p.Gly416Ala) c.1136G>C (p.Gly379Ala) n.839G>C c.1004G>C (p.Gly335Ala) n.830G>C n.283-5382G>C c.328G>C c.989G>C (p.Gly330Ala) | COSMIC |
| 15 | g.67187491G= | CA2184420944 | SMAD3 | c.551G= (p.Gly184=) c.821G= (p.Gly274=) c.1247G= (p.Gly416=) c.1136G= (p.Gly379=) n.839G= c.1004G= (p.Gly335=) n.830G= n.283-5382G= c.328G= c.989G= (p.Gly330=) | |
| 15 | g.67187491G>T | CA392958331 | SMAD3 | c.551G>T (p.Gly184Val) c.821G>T (p.Gly274Val) c.1247G>T (p.Gly416Val) c.1136G>T (p.Gly379Val) n.839G>T c.1004G>T (p.Gly335Val) n.830G>T n.283-5382G>T c.328G>T c.989G>T (p.Gly330Val) | ClinVar dbSNP |
| 15 | g.67187492C>A | CA490918356 | SMAD3 | c.552C>A (p.Gly184=) c.822C>A (p.Gly274=) c.1248C>A (p.Gly416=) c.1137C>A (p.Gly379=) n.840C>A c.1005C>A (p.Gly335=) n.831C>A n.283-5381C>A c.329C>A c.990C>A (p.Gly330=) | |
| 15 | g.67187492C>G | CA490918358 | SMAD3 | c.552C>G (p.Gly184=) c.822C>G (p.Gly274=) c.1248C>G (p.Gly416=) c.1137C>G (p.Gly379=) n.840C>G c.1005C>G (p.Gly335=) n.831C>G n.283-5381C>G c.329C>G c.990C>G (p.Gly330=) | dbSNP |
| 15 | g.67187492C>T | CA490918361 | SMAD3 | c.552C>T (p.Gly184=) c.822C>T (p.Gly274=) c.1248C>T (p.Gly416=) c.1137C>T (p.Gly379=) n.840C>T c.1005C>T (p.Gly335=) n.831C>T n.283-5381C>T c.329C>T c.990C>T (p.Gly330=) | ClinVar |
| 15 | g.67187493T>A | CA392958334 | SMAD3 | c.553T>A (p.Trp185Arg) c.823T>A (p.Trp275Arg) c.1249T>A (p.Trp417Arg) c.1138T>A (p.Trp380Arg) n.841T>A c.1006T>A (p.Trp336Arg) n.832T>A n.283-5380T>A c.330T>A c.991T>A (p.Trp331Arg) | |
| 15 | g.67187493T>C | CA392958335 | SMAD3 | c.553T>C (p.Trp185Arg) c.823T>C (p.Trp275Arg) c.1249T>C (p.Trp417Arg) c.1138T>C (p.Trp380Arg) n.841T>C c.1006T>C (p.Trp336Arg) n.832T>C n.283-5380T>C c.330T>C c.991T>C (p.Trp331Arg) | |
| 15 | g.67187493T>G | CA392958336 | SMAD3 | c.553T>G (p.Trp185Gly) c.823T>G (p.Trp275Gly) c.1249T>G (p.Trp417Gly) c.1138T>G (p.Trp380Gly) n.841T>G c.1006T>G (p.Trp336Gly) n.832T>G n.283-5380T>G c.330T>G c.991T>G (p.Trp331Gly) | ClinVar dbSNP gnomAD v4 |
| 15 | g.67187493T= | CA2184420945 | SMAD3 | c.553T= (p.Trp185=) c.823T= (p.Trp275=) c.1249T= (p.Trp417=) c.1138T= (p.Trp380=) n.841T= c.1006T= (p.Trp336=) n.832T= n.283-5380T= c.330T= c.991T= (p.Trp331=) | |
| 15 | g.67187494G>A | CA392958337 | SMAD3 | c.554G>A (p.Trp185Ter) c.824G>A (p.Trp275Ter) c.1250G>A (p.Trp417Ter) c.1139G>A (p.Trp380Ter) n.842G>A c.1007G>A (p.Trp336Ter) n.833G>A n.283-5379G>A c.331G>A c.992G>A (p.Trp331Ter) | ClinVar |
| 15 | g.67187494G>C | CA392958338 | SMAD3 | c.554G>C (p.Trp185Ser) c.824G>C (p.Trp275Ser) c.1250G>C (p.Trp417Ser) c.1139G>C (p.Trp380Ser) n.842G>C c.1007G>C (p.Trp336Ser) n.833G>C n.283-5379G>C c.331G>C c.992G>C (p.Trp331Ser) | |
| 15 | g.67187494G>T | CA392958339 | SMAD3 | c.554G>T (p.Trp185Leu) c.824G>T (p.Trp275Leu) c.1250G>T (p.Trp417Leu) c.1139G>T (p.Trp380Leu) n.842G>T c.1007G>T (p.Trp336Leu) n.833G>T n.283-5379G>T c.331G>T c.992G>T (p.Trp331Leu) | |
| 15 | g.67187495G>A | CA392958342 | SMAD3 | c.555G>A (p.Trp185Ter) c.825G>A (p.Trp275Ter) c.1251G>A (p.Trp417Ter) c.1140G>A (p.Trp380Ter) n.843G>A c.1008G>A (p.Trp336Ter) n.834G>A n.283-5378G>A c.332G>A c.993G>A (p.Trp331Ter) | |
| 15 | g.67187495G>C | CA392958340 | SMAD3 | c.555G>C (p.Trp185Cys) c.825G>C (p.Trp275Cys) c.1251G>C (p.Trp417Cys) c.1140G>C (p.Trp380Cys) n.843G>C c.1008G>C (p.Trp336Cys) n.834G>C n.283-5378G>C c.332G>C c.993G>C (p.Trp331Cys) | |
| 15 | g.67187495G>T | CA392958341 | SMAD3 | c.555G>T (p.Trp185Cys) c.825G>T (p.Trp275Cys) c.1251G>T (p.Trp417Cys) c.1140G>T (p.Trp380Cys) n.843G>T c.1008G>T (p.Trp336Cys) n.834G>T n.283-5378G>T c.332G>T c.993G>T (p.Trp331Cys) | |
| 15 | g.67187496G>A | CA392958343 | SMAD3 | c.556G>A (p.Gly186Arg) c.826G>A (p.Gly276Arg) c.1252G>A (p.Gly418Arg) c.1141G>A (p.Gly381Arg) n.844G>A c.1009G>A (p.Gly337Arg) n.835G>A n.283-5377G>A c.333G>A c.994G>A (p.Gly332Arg) | ClinVar |
| 15 | g.67187496G>C | CA392958344 | SMAD3 | c.556G>C (p.Gly186Arg) c.826G>C (p.Gly276Arg) c.1252G>C (p.Gly418Arg) c.1141G>C (p.Gly381Arg) n.844G>C c.1009G>C (p.Gly337Arg) n.835G>C n.283-5377G>C c.333G>C c.994G>C (p.Gly332Arg) | |
| 15 | g.67187496G>T | CA392958345 | SMAD3 | c.556G>T (p.Gly186Ter) c.826G>T (p.Gly276Ter) c.1252G>T (p.Gly418Ter) c.1141G>T (p.Gly381Ter) n.844G>T c.1009G>T (p.Gly337Ter) n.835G>T n.283-5377G>T c.333G>T c.994G>T (p.Gly332Ter) | ClinVar dbSNP |
| 15 | g.67187498_67187510del | CA2695220930 | SMAD3 | c.558_569+1del c.828_839+1del c.1254_1265+1del c.1143_1154+1del n.846_857+1del c.1011_1022+1del n.837_848+1del n.283-5375_283-5363del c.335_346+1del c.996_1007+1del | |
| 15 | g.67187497G>A | CA392958346 | SMAD3 | c.557G>A (p.Gly186Glu) c.827G>A (p.Gly276Glu) c.1253G>A (p.Gly418Glu) c.1142G>A (p.Gly381Glu) n.845G>A c.1010G>A (p.Gly337Glu) n.836G>A n.283-5376G>A c.334G>A c.995G>A (p.Gly332Glu) | dbSNP COSMIC |
| 15 | g.67187497G>C | CA392958347 | SMAD3 | c.557G>C (p.Gly186Ala) c.827G>C (p.Gly276Ala) c.1253G>C (p.Gly418Ala) c.1142G>C (p.Gly381Ala) n.845G>C c.1010G>C (p.Gly337Ala) n.836G>C n.283-5376G>C c.334G>C c.995G>C (p.Gly332Ala) | |
| 15 | g.67187497G= | CA2184420946 | SMAD3 | c.557G= (p.Gly186=) c.827G= (p.Gly276=) c.1253G= (p.Gly418=) c.1142G= (p.Gly381=) n.845G= c.1010G= (p.Gly337=) n.836G= n.283-5376G= c.334G= c.995G= (p.Gly332=) | |
| 15 | g.67187497G>T | CA392958348 | SMAD3 | c.557G>T (p.Gly186Val) c.827G>T (p.Gly276Val) c.1253G>T (p.Gly418Val) c.1142G>T (p.Gly381Val) n.845G>T c.1010G>T (p.Gly337Val) n.836G>T n.283-5376G>T c.334G>T c.995G>T (p.Gly332Val) | ClinVar dbSNP |
| 15 | g.67187498A= | CA2184420947 | SMAD3 | c.558A= (p.Gly186=) c.828A= (p.Gly276=) c.1254A= (p.Gly418=) c.1143A= (p.Gly381=) n.846A= c.1011A= (p.Gly337=) n.837A= n.283-5375A= c.335A= c.996A= (p.Gly332=) | |
| 15 | g.67187498A>C | CA490918406 | SMAD3 | c.558A>C (p.Gly186=) c.828A>C (p.Gly276=) c.1254A>C (p.Gly418=) c.1143A>C (p.Gly381=) n.846A>C c.1011A>C (p.Gly337=) n.837A>C n.283-5375A>C c.335A>C c.996A>C (p.Gly332=) | |
| 15 | g.67187498A>G | CA272396744 | SMAD3 | c.558A>G (p.Gly186=) c.828A>G (p.Gly276=) c.1254A>G (p.Gly418=) c.1143A>G (p.Gly381=) n.846A>G c.1011A>G (p.Gly337=) n.837A>G n.283-5375A>G c.335A>G c.996A>G (p.Gly332=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.67187498A>T | CA490918408 | SMAD3 | c.558A>T (p.Gly186=) c.828A>T (p.Gly276=) c.1254A>T (p.Gly418=) c.1143A>T (p.Gly381=) n.846A>T c.1011A>T (p.Gly337=) n.837A>T n.283-5375A>T c.335A>T c.996A>T (p.Gly332=) | |
| 15 | g.67187499G>A | CA392958349 | SMAD3 | c.559G>A (p.Ala187Thr) c.829G>A (p.Ala277Thr) c.1255G>A (p.Ala419Thr) c.1144G>A (p.Ala382Thr) n.847G>A c.1012G>A (p.Ala338Thr) n.838G>A n.283-5374G>A c.336G>A c.997G>A (p.Ala333Thr) | ClinVar gnomAD v4 |
| 15 | g.67187499G>C | CA392958350 | SMAD3 | c.559G>C (p.Ala187Pro) c.829G>C (p.Ala277Pro) c.1255G>C (p.Ala419Pro) c.1144G>C (p.Ala382Pro) n.847G>C c.1012G>C (p.Ala338Pro) n.838G>C n.283-5374G>C c.336G>C c.997G>C (p.Ala333Pro) | |
| 15 | g.67187499G>T | CA392958351 | SMAD3 | c.559G>T (p.Ala187Ser) c.829G>T (p.Ala277Ser) c.1255G>T (p.Ala419Ser) c.1144G>T (p.Ala382Ser) n.847G>T c.1012G>T (p.Ala338Ser) n.838G>T n.283-5374G>T c.336G>T c.997G>T (p.Ala333Ser) | |
| 15 | g.67187500C>A | CA392958352 | SMAD3 | c.560C>A (p.Ala187Glu) c.830C>A (p.Ala277Glu) c.1256C>A (p.Ala419Glu) c.1145C>A (p.Ala382Glu) n.848C>A c.1013C>A (p.Ala338Glu) n.839C>A n.283-5373C>A c.337C>A c.998C>A (p.Ala333Glu) | dbSNP |
| 15 | g.67187500C= | CA2184420948 | SMAD3 | c.560C= (p.Ala187=) c.830C= (p.Ala277=) c.1256C= (p.Ala419=) c.1145C= (p.Ala382=) n.848C= c.1013C= (p.Ala338=) n.839C= n.283-5373C= c.337C= c.998C= (p.Ala333=) | |
| 15 | g.67187500C>G | CA392958353 | SMAD3 | c.560C>G (p.Ala187Gly) c.830C>G (p.Ala277Gly) c.1256C>G (p.Ala419Gly) c.1145C>G (p.Ala382Gly) n.848C>G c.1013C>G (p.Ala338Gly) n.839C>G n.283-5373C>G c.337C>G c.998C>G (p.Ala333Gly) | dbSNP |
| 15 | g.67187500C>T | CA061619 | SMAD3 | c.560C>T (p.Ala187Val) c.830C>T (p.Ala277Val) c.1256C>T (p.Ala419Val) c.1145C>T (p.Ala382Val) n.848C>T c.1013C>T (p.Ala338Val) n.839C>T n.283-5373C>T c.337C>T c.998C>T (p.Ala333Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 15 | g.67187501G>A | CA061623 | SMAD3 | c.561G>A (p.Ala187=) c.831G>A (p.Ala277=) c.1257G>A (p.Ala419=) c.1146G>A (p.Ala382=) n.849G>A c.1014G>A (p.Ala338=) n.840G>A n.283-5372G>A c.338G>A c.999G>A (p.Ala333=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.67187501G>C | CA490918438 | SMAD3 | c.561G>C (p.Ala187=) c.831G>C (p.Ala277=) c.1257G>C (p.Ala419=) c.1146G>C (p.Ala382=) n.849G>C c.1014G>C (p.Ala338=) n.840G>C n.283-5372G>C c.338G>C c.999G>C (p.Ala333=) | |
| 15 | g.67187501G= | CA2184420949 | SMAD3 | c.561G= (p.Ala187=) c.831G= (p.Ala277=) c.1257G= (p.Ala419=) c.1146G= (p.Ala382=) n.849G= c.1014G= (p.Ala338=) n.840G= n.283-5372G= c.338G= c.999G= (p.Ala333=) | |
| 15 | g.67187501G>T | CA490918436 | SMAD3 | c.561G>T (p.Ala187=) c.831G>T (p.Ala277=) c.1257G>T (p.Ala419=) c.1146G>T (p.Ala382=) n.849G>T c.1014G>T (p.Ala338=) n.840G>T n.283-5372G>T c.338G>T c.999G>T (p.Ala333=) | |
| 15 | g.67187502G>A | CA392958354 | SMAD3 | c.562G>A (p.Glu188Lys) c.832G>A (p.Glu278Lys) c.1258G>A (p.Glu420Lys) c.1147G>A (p.Glu383Lys) n.850G>A c.1015G>A (p.Glu339Lys) n.841G>A n.283-5371G>A c.339G>A c.1000G>A (p.Glu334Lys) | |
| 15 | g.67187502G>C | CA392958356 | SMAD3 | c.562G>C (p.Glu188Gln) c.832G>C (p.Glu278Gln) c.1258G>C (p.Glu420Gln) c.1147G>C (p.Glu383Gln) n.850G>C c.1015G>C (p.Glu339Gln) n.841G>C n.283-5371G>C c.339G>C c.1000G>C (p.Glu334Gln) | |
| 15 | g.67187502G>T | CA392958355 | SMAD3 | c.562G>T (p.Glu188Ter) c.832G>T (p.Glu278Ter) c.1258G>T (p.Glu420Ter) c.1147G>T (p.Glu383Ter) n.850G>T c.1015G>T (p.Glu339Ter) n.841G>T n.283-5371G>T c.339G>T c.1000G>T (p.Glu334Ter) | COSMIC |
| 15 | g.67187503A>C | CA392958357 | SMAD3 | c.563A>C (p.Glu188Ala) c.833A>C (p.Glu278Ala) c.1259A>C (p.Glu420Ala) c.1148A>C (p.Glu383Ala) n.851A>C c.1016A>C (p.Glu339Ala) n.842A>C n.283-5370A>C c.340A>C c.1001A>C (p.Glu334Ala) | |
| 15 | g.67187503A>G | CA392958358 | SMAD3 | c.563A>G (p.Glu188Gly) c.833A>G (p.Glu278Gly) c.1259A>G (p.Glu420Gly) c.1148A>G (p.Glu383Gly) n.851A>G c.1016A>G (p.Glu339Gly) n.842A>G n.283-5370A>G c.340A>G c.1001A>G (p.Glu334Gly) | |
| 15 | g.67187503A>T | CA392958359 | SMAD3 | c.563A>T (p.Glu188Val) c.833A>T (p.Glu278Val) c.1259A>T (p.Glu420Val) c.1148A>T (p.Glu383Val) n.851A>T c.1016A>T (p.Glu339Val) n.842A>T n.283-5370A>T c.340A>T c.1001A>T (p.Glu334Val) | |
| 15 | g.67187504G>A | CA490918465 | SMAD3 | c.564G>A (p.Glu188=) c.834G>A (p.Glu278=) c.1260G>A (p.Glu420=) c.1149G>A (p.Glu383=) n.852G>A c.1017G>A (p.Glu339=) n.843G>A n.283-5369G>A c.341G>A c.1002G>A (p.Glu334=) | ClinVar dbSNP |
| 15 | g.67187504G>C | CA392958360 | SMAD3 | c.564G>C (p.Glu188Asp) c.834G>C (p.Glu278Asp) c.1260G>C (p.Glu420Asp) c.1149G>C (p.Glu383Asp) n.852G>C c.1017G>C (p.Glu339Asp) n.843G>C n.283-5369G>C c.341G>C c.1002G>C (p.Glu334Asp) | |
| 15 | g.67187504G>T | CA392958361 | SMAD3 | c.564G>T (p.Glu188Asp) c.834G>T (p.Glu278Asp) c.1260G>T (p.Glu420Asp) c.1149G>T (p.Glu383Asp) n.852G>T c.1017G>T (p.Glu339Asp) n.843G>T n.283-5369G>T c.341G>T c.1002G>T (p.Glu334Asp) | gnomAD v4 |
| 15 | g.67187505T>A | CA392958362 | SMAD3 | c.565T>A (p.Tyr189Asn) c.835T>A (p.Tyr279Asn) c.1261T>A (p.Tyr421Asn) c.1150T>A (p.Tyr384Asn) n.853T>A c.1018T>A (p.Tyr340Asn) n.844T>A n.283-5368T>A c.342T>A c.1003T>A (p.Tyr335Asn) | dbSNP |
| 15 | g.67187505T>C | CA392958363 | SMAD3 | c.565T>C (p.Tyr189His) c.835T>C (p.Tyr279His) c.1261T>C (p.Tyr421His) c.1150T>C (p.Tyr384His) n.853T>C c.1018T>C (p.Tyr340His) n.844T>C n.283-5368T>C c.342T>C c.1003T>C (p.Tyr335His) | ClinVar dbSNP |
| 15 | g.67187505T>G | CA392958364 | SMAD3 | c.565T>G (p.Tyr189Asp) c.835T>G (p.Tyr279Asp) c.1261T>G (p.Tyr421Asp) c.1150T>G (p.Tyr384Asp) n.853T>G c.1018T>G (p.Tyr340Asp) n.844T>G n.283-5368T>G c.342T>G c.1003T>G (p.Tyr335Asp) | |
| 15 | g.67187506A>C | CA392958365 | SMAD3 | c.566A>C (p.Tyr189Ser) c.836A>C (p.Tyr279Ser) c.1262A>C (p.Tyr421Ser) c.1151A>C (p.Tyr384Ser) n.854A>C c.1019A>C (p.Tyr340Ser) n.845A>C n.283-5367A>C c.343A>C c.1004A>C (p.Tyr335Ser) | |
| 15 | g.67187506A>G | CA392958366 | SMAD3 | c.566A>G (p.Tyr189Cys) c.836A>G (p.Tyr279Cys) c.1262A>G (p.Tyr421Cys) c.1151A>G (p.Tyr384Cys) n.854A>G c.1019A>G (p.Tyr340Cys) n.845A>G n.283-5367A>G c.343A>G c.1004A>G (p.Tyr335Cys) | ClinVar dbSNP |
| 15 | g.67187506A>T | CA392958367 | SMAD3 | c.566A>T (p.Tyr189Phe) c.836A>T (p.Tyr279Phe) c.1262A>T (p.Tyr421Phe) c.1151A>T (p.Tyr384Phe) n.854A>T c.1019A>T (p.Tyr340Phe) n.845A>T n.283-5367A>T c.343A>T c.1004A>T (p.Tyr335Phe) | |
| 15 | g.67187507C>A | CA392958369 | SMAD3 | c.567C>A (p.Tyr189Ter) c.837C>A (p.Tyr279Ter) c.1263C>A (p.Tyr421Ter) c.1152C>A (p.Tyr384Ter) n.855C>A c.1020C>A (p.Tyr340Ter) n.846C>A n.283-5366C>A c.344C>A c.1005C>A (p.Tyr335Ter) | COSMIC |
| 15 | g.67187507C= | CA2184420950 | SMAD3 | c.567C= (p.Tyr189=) c.837C= (p.Tyr279=) c.1263C= (p.Tyr421=) c.1152C= (p.Tyr384=) n.855C= c.1020C= (p.Tyr340=) n.846C= n.283-5366C= c.344C= c.1005C= (p.Tyr335=) | |
| 15 | g.67187507C>G | CA392958368 | SMAD3 | c.567C>G (p.Tyr189Ter) c.837C>G (p.Tyr279Ter) c.1263C>G (p.Tyr421Ter) c.1152C>G (p.Tyr384Ter) n.855C>G c.1020C>G (p.Tyr340Ter) n.846C>G n.283-5366C>G c.344C>G c.1005C>G (p.Tyr335Ter) | |
| 15 | g.67187507C>T | CA061629 | SMAD3 | c.567C>T (p.Tyr189=) c.837C>T (p.Tyr279=) c.1263C>T (p.Tyr421=) c.1152C>T (p.Tyr384=) n.855C>T c.1020C>T (p.Tyr340=) n.846C>T n.283-5366C>T c.344C>T c.1005C>T (p.Tyr335=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.67187508A= | CA2184420951 | SMAD3 | c.568A= (p.Arg190=) c.838A= (p.Arg280=) c.1264A= (p.Arg422=) c.1153A= (p.Arg385=) n.856A= c.1021A= (p.Arg341=) n.847A= n.283-5365A= c.345A= c.1006A= (p.Arg336=) | |
| 15 | g.67187508A>C | CA490918494 | SMAD3 | c.568A>C (p.Arg190=) c.838A>C (p.Arg280=) c.1264A>C (p.Arg422=) c.1153A>C (p.Arg385=) n.856A>C c.1021A>C (p.Arg341=) n.847A>C n.283-5365A>C c.345A>C c.1006A>C (p.Arg336=) | |
| 15 | g.67187508A>G | CA10587879 | SMAD3 | c.568A>G (p.Arg190Gly) c.838A>G (p.Arg280Gly) c.1264A>G (p.Arg422Gly) c.1153A>G (p.Arg385Gly) n.856A>G c.1021A>G (p.Arg341Gly) n.847A>G n.283-5365A>G c.345A>G c.1006A>G (p.Arg336Gly) | ClinVar dbSNP |
| 15 | g.67187508A>T | CA392958370 | SMAD3 | c.568A>T (p.Arg190Trp) c.838A>T (p.Arg280Trp) c.1264A>T (p.Arg422Trp) c.1153A>T (p.Arg385Trp) n.856A>T c.1021A>T (p.Arg341Trp) n.847A>T n.283-5365A>T c.345A>T c.1006A>T (p.Arg336Trp) | |
| 15 | g.67187508dup | CA891843530 | SMAD3 | c.568dup (p.Arg190LysfsTer13) c.838dup (p.Arg280LysfsTer13) c.1264dup (p.Arg422LysfsTer13) c.1153dup (p.Arg385LysfsTer13) n.856dup c.1021dup (p.Arg341LysfsTer13) n.847dup n.283-5365dup c.345dup c.1006dup (p.Arg336LysfsTer13) | ClinVar dbSNP |