Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.67164885_67164968delinsA | CA2580089878 | SMAD3 | c.-109-10_-36delinsA c.207-10_280delinsA c.75-10_148delinsA c.152-10_225delinsA n.57-10_130delinsA c.60-10_133delinsA | ClinVar |
15 | g.67164962_67164969delinsTGGCGATG | CA2184410336 | SMAD3 | c.-42_-35delinsTGGCGATG (n.-42_-35delinsTGGCGATG) c.274_281delinsTGGCGATG (p.Trp92=) c.142_149delinsTGGCGATG (p.Trp48=) c.219_226delinsTGGCGATG (p.Cys73=) n.124_131delinsTGGCGATG c.127_134delinsTGGCGATG (p.Trp43=) | |
15 | g.67164963_67164969delinsC | CA320096 | SMAD3 | c.-41_-35delinsC (n.-41_-35delinsC) c.275_281delinsC (p.Trp92_Trp94delinsSer) c.143_149delinsC (p.Trp48_Trp50delinsSer) c.220_226delinsC (p.Gly74_Gly76delinsArg) n.125_131delinsC c.128_134delinsC (p.Trp43_Trp45delinsSer) | ClinVar dbSNP |
15 | g.67164968T>A | CA392953909 | SMAD3 | c.-36T>A (n.-36T>A) c.280T>A (p.Trp94Arg) c.148T>A (p.Trp50Arg) c.225T>A (p.Asp75Glu) n.130T>A c.133T>A (p.Trp45Arg) | |
15 | g.67164968T>C | CA392953910 | SMAD3 | c.-36T>C (n.-36T>C) c.280T>C (p.Trp94Arg) c.148T>C (p.Trp50Arg) c.225T>C (p.Asp75=) n.130T>C c.133T>C (p.Trp45Arg) | |
15 | g.67164968T>G | CA392953911 | SMAD3 | c.-36T>G (n.-36T>G) c.280T>G (p.Trp94Gly) c.148T>G (p.Trp50Gly) c.225T>G (p.Asp75Glu) n.130T>G c.133T>G (p.Trp45Gly) | dbSNP |
15 | g.67164968T= | CA2184410339 | SMAD3 | c.-36T= (n.-36T=) c.280T= (p.Trp94=) c.148T= (p.Trp50=) c.225T= (p.Asp75=) n.130T= c.133T= (p.Trp45=) | |
15 | g.67164969G>A | CA392953913 | SMAD3 | c.-35G>A (n.-35G>A) c.281G>A (p.Trp94Ter) c.149G>A (p.Trp50Ter) c.226G>A (p.Gly76Ser) n.131G>A c.134G>A (p.Trp45Ter) | ClinVar dbSNP COSMIC COSMIC |
15 | g.67164969G>C | CA392953912 | SMAD3 | c.-35G>C (n.-35G>C) c.281G>C (p.Trp94Ser) c.149G>C (p.Trp50Ser) c.226G>C (p.Gly76Arg) n.131G>C c.134G>C (p.Trp45Ser) | |
15 | g.67164969G= | CA2184410340 | SMAD3 | c.-35G= (n.-35G=) c.281G= (p.Trp94=) c.149G= (p.Trp50=) c.226G= (p.Gly76=) n.131G= c.134G= (p.Trp45=) | |
15 | g.67164969G>T | CA16043497 | SMAD3 | c.-35G>T (n.-35G>T) c.281G>T (p.Trp94Leu) c.149G>T (p.Trp50Leu) c.226G>T (p.Gly76Cys) n.131G>T c.134G>T (p.Trp45Leu) | ClinVar dbSNP gnomAD v4 |
15 | g.67164969_67164982dup | CA715067682 | SMAD3 | c.-35_-22dup (n.-35_-22dup) c.281_294dup (p.Ser99GlyfsTer22) c.149_162dup (p.Ser55GlyfsTer22) c.226_239dup (p.Thr82ArgfsTer15) n.131_144dup c.134_147dup (p.Ser50GlyfsTer22) | dbSNP |
15 | g.67164970G>A | CA392953914 | SMAD3 | c.-34G>A (n.-34G>A) c.282G>A (p.Trp94Ter) c.150G>A (p.Trp50Ter) c.227G>A (p.Gly76Asp) n.132G>A c.135G>A (p.Trp45Ter) | dbSNP |
15 | g.67164970G>C | CA392953915 | SMAD3 | c.-34G>C (n.-34G>C) c.282G>C (p.Trp94Cys) c.150G>C (p.Trp50Cys) c.227G>C (p.Gly76Ala) n.132G>C c.135G>C (p.Trp45Cys) | |
15 | g.67164970G>T | CA392953916 | SMAD3 | c.-34G>T (n.-34G>T) c.282G>T (p.Trp94Cys) c.150G>T (p.Trp50Cys) c.227G>T (p.Gly76Val) n.132G>T c.135G>T (p.Trp45Cys) | |
15 | g.67164971C>A | CA392953917 | SMAD3 | c.-33C>A (n.-33C>A) c.283C>A (p.Pro95Thr) c.151C>A (p.Pro51Thr) c.228C>A (p.Gly76=) n.133C>A c.136C>A (p.Pro46Thr) | dbSNP |
15 | g.67164971C>G | CA392953918 | SMAD3 | c.-33C>G (n.-33C>G) c.283C>G (p.Pro95Ala) c.151C>G (p.Pro51Ala) c.228C>G (p.Gly76=) n.133C>G c.136C>G (p.Pro46Ala) | |
15 | g.67164971C>T | CA392953919 | SMAD3 | c.-33C>T (n.-33C>T) c.283C>T (p.Pro95Ser) c.151C>T (p.Pro51Ser) c.228C>T (p.Gly76=) n.133C>T c.136C>T (p.Pro46Ser) | |
15 | g.67164972C>A | CA392953920 | SMAD3 | c.-32C>A (n.-32C>A) c.284C>A (p.Pro95Gln) c.152C>A (p.Pro51Gln) c.229C>A (p.Gln77Lys) n.134C>A c.137C>A (p.Pro46Gln) | |
15 | g.67164972C= | CA2184410341 | SMAD3 | c.-32C= (n.-32C=) c.284C= (p.Pro95=) c.152C= (p.Pro51=) c.229C= (p.Gln77=) n.134C= c.137C= (p.Pro46=) | |
15 | g.67164972C>G | CA392953921 | SMAD3 | c.-32C>G (n.-32C>G) c.284C>G (p.Pro95Arg) c.152C>G (p.Pro51Arg) c.229C>G (p.Gln77Glu) n.134C>G c.137C>G (p.Pro46Arg) | ClinVar |
15 | g.67164972C>T | CA392953922 | SMAD3 | c.-32C>T (n.-32C>T) c.284C>T (p.Pro95Leu) c.152C>T (p.Pro51Leu) c.229C>T (p.Gln77Ter) n.134C>T c.137C>T (p.Pro46Leu) | ClinVar dbSNP |
15 | g.67164973A= | CA2184410342 | SMAD3 | c.-31A= (n.-31A=) c.285A= (p.Pro95=) c.153A= (p.Pro51=) c.230A= (p.Gln77=) n.135A= c.138A= (p.Pro46=) | |
15 | g.67164973A>C | CA392953923 | SMAD3 | c.-31A>C (n.-31A>C) c.285A>C (p.Pro95=) c.153A>C (p.Pro51=) c.230A>C (p.Gln77Pro) n.135A>C c.138A>C (p.Pro46=) | |
15 | g.67164973A>G | CA392953924 | SMAD3 | c.-31A>G (n.-31A>G) c.285A>G (p.Pro95=) c.153A>G (p.Pro51=) c.230A>G (p.Gln77Arg) n.135A>G c.138A>G (p.Pro46=) | |
15 | g.67164973A>T | CA392953925 | SMAD3 | c.-31A>T (n.-31A>T) c.285A>T (p.Pro95=) c.153A>T (p.Pro51=) c.230A>T (p.Gln77Leu) n.135A>T c.138A>T (p.Pro46=) | dbSNP |
15 | g.67164974G>A | CA392953928 | SMAD3 | c.-30G>A (n.-30G>A) c.286G>A (p.Asp96Asn) c.154G>A (p.Asp52Asn) c.231G>A (p.Gln77=) n.136G>A c.139G>A (p.Asp47Asn) | |
15 | g.67164974G>C | CA392953927 | SMAD3 | c.-30G>C (n.-30G>C) c.286G>C (p.Asp96His) c.154G>C (p.Asp52His) c.231G>C (p.Gln77His) n.136G>C c.139G>C (p.Asp47His) | |
15 | g.67164974G>T | CA392953926 | SMAD3 | c.-30G>T (n.-30G>T) c.286G>T (p.Asp96Tyr) c.154G>T (p.Asp52Tyr) c.231G>T (p.Gln77His) n.136G>T c.139G>T (p.Asp47Tyr) | |
15 | g.67164975A= | CA2184410343 | SMAD3 | c.-29A= (n.-29A=) c.287A= (p.Asp96=) c.155A= (p.Asp52=) c.232A= (p.Thr78=) n.137A= c.140A= (p.Asp47=) | |
15 | g.67164975A>C | CA392953929 | SMAD3 | c.-29A>C (n.-29A>C) c.287A>C (p.Asp96Ala) c.155A>C (p.Asp52Ala) c.232A>C (p.Thr78Pro) n.137A>C c.140A>C (p.Asp47Ala) | dbSNP |
15 | g.67164975A>G | CA392953931 | SMAD3 | c.-29A>G (n.-29A>G) c.287A>G (p.Asp96Gly) c.155A>G (p.Asp52Gly) c.232A>G (p.Thr78Ala) n.137A>G c.140A>G (p.Asp47Gly) | |
15 | g.67164975A>T | CA392953930 | SMAD3 | c.-29A>T (n.-29A>T) c.287A>T (p.Asp96Val) c.155A>T (p.Asp52Val) c.232A>T (p.Thr78Ser) n.137A>T c.140A>T (p.Asp47Val) | dbSNP gnomAD v4 |
15 | g.67164976C>A | CA392953932 | SMAD3 | c.-28C>A (n.-28C>A) c.288C>A (p.Asp96Glu) c.156C>A (p.Asp52Glu) c.233C>A (p.Thr78Asn) n.138C>A c.141C>A (p.Asp47Glu) | |
15 | g.67164976C>G | CA392953933 | SMAD3 | c.-28C>G (n.-28C>G) c.288C>G (p.Asp96Glu) c.156C>G (p.Asp52Glu) c.233C>G (p.Thr78Ser) n.138C>G c.141C>G (p.Asp47Glu) | |
15 | g.67164976C>T | CA392953934 | SMAD3 | c.-28C>T (n.-28C>T) c.288C>T (p.Asp96=) c.156C>T (p.Asp52=) c.233C>T (p.Thr78Ile) n.138C>T c.141C>T (p.Asp47=) | |
15 | g.67164977_67164980del | CA645572329 | SMAD3 | c.-27_-24del (n.-27_-24del) c.289_292del (p.Leu97ThrfsTer18) c.157_160del (p.Leu53ThrfsTer18) c.234_237del (p.Cys79GlnfsTer12) n.139_142del c.142_145del (p.Leu48ThrfsTer18) | COSMIC COSMIC |
15 | g.67164977C>A | CA392953935 | SMAD3 | c.-27C>A (n.-27C>A) c.289C>A (p.Leu97Met) c.157C>A (p.Leu53Met) c.234C>A (p.Thr78=) n.139C>A c.142C>A (p.Leu48Met) | COSMIC |
15 | g.67164977C>G | CA392953936 | SMAD3 | c.-27C>G (n.-27C>G) c.289C>G (p.Leu97Val) c.157C>G (p.Leu53Val) c.234C>G (p.Thr78=) n.139C>G c.142C>G (p.Leu48Val) | |
15 | g.67164977C>T | CA491071603 | SMAD3 | c.-27C>T (n.-27C>T) c.289C>T (p.Leu97=) c.157C>T (p.Leu53=) c.234C>T (p.Thr78=) n.139C>T c.142C>T (p.Leu48=) | |
15 | g.67164978T>A | CA392953937 | SMAD3 | c.-26T>A (n.-26T>A) c.290T>A (p.Leu97Gln) c.158T>A (p.Leu53Gln) c.235T>A (p.Cys79Ser) n.140T>A c.143T>A (p.Leu48Gln) | |
15 | g.67164978T>C | CA392953938 | SMAD3 | c.-26T>C (n.-26T>C) c.290T>C (p.Leu97Pro) c.158T>C (p.Leu53Pro) c.235T>C (p.Cys79Arg) n.140T>C c.143T>C (p.Leu48Pro) | ClinVar dbSNP |
15 | g.67164978T>G | CA392953939 | SMAD3 | c.-26T>G (n.-26T>G) c.290T>G (p.Leu97Arg) c.158T>G (p.Leu53Arg) c.235T>G (p.Cys79Gly) n.140T>G c.143T>G (p.Leu48Arg) | dbSNP |
15 | g.67164978T= | CA2184410344 | SMAD3 | c.-26T= (n.-26T=) c.290T= (p.Leu97=) c.158T= (p.Leu53=) c.235T= (p.Cys79=) n.140T= c.143T= (p.Leu48=) | |
15 | g.67164979G>A | CA392953940 | SMAD3 | c.-25G>A (n.-25G>A) c.291G>A (p.Leu97=) c.159G>A (p.Leu53=) c.236G>A (p.Cys79Tyr) n.141G>A c.144G>A (p.Leu48=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.67164979G>C | CA392953941 | SMAD3 | c.-25G>C (n.-25G>C) c.291G>C (p.Leu97=) c.159G>C (p.Leu53=) c.236G>C (p.Cys79Ser) n.141G>C c.144G>C (p.Leu48=) | |
15 | g.67164979G= | CA2184410345 | SMAD3 | c.-25G= (n.-25G=) c.291G= (p.Leu97=) c.159G= (p.Leu53=) c.236G= (p.Cys79=) n.141G= c.144G= (p.Leu48=) | |
15 | g.67164979G>T | CA392953942 | SMAD3 | c.-25G>T (n.-25G>T) c.291G>T (p.Leu97=) c.159G>T (p.Leu53=) c.236G>T (p.Cys79Phe) n.141G>T c.144G>T (p.Leu48=) | |
15 | g.67164980C>A | CA392953945 | SMAD3 | c.-24C>A (n.-24C>A) c.292C>A (p.His98Asn) c.160C>A (p.His54Asn) c.237C>A (p.Cys79Ter) n.142C>A c.145C>A (p.His49Asn) | dbSNP |
15 | g.67164980C= | CA2184410346 | SMAD3 | c.-24C= (n.-24C=) c.292C= (p.His98=) c.160C= (p.His54=) c.237C= (p.Cys79=) n.142C= c.145C= (p.His49=) | |
15 | g.67164980C>G | CA392953944 | SMAD3 | c.-24C>G (n.-24C>G) c.292C>G (p.His98Asp) c.160C>G (p.His54Asp) c.237C>G (p.Cys79Trp) n.142C>G c.145C>G (p.His49Asp) | |
15 | g.67164980C>T | CA392953943 | SMAD3 | c.-24C>T (n.-24C>T) c.292C>T (p.His98Tyr) c.160C>T (p.His54Tyr) c.237C>T (p.Cys79=) n.142C>T c.145C>T (p.His49Tyr) | ClinVar dbSNP |
15 | g.67164980dup | CA2843204191 | SMAD3 | c.-24dup (n.-24dup) c.292dup (p.His98ProfsTer13) c.160dup (p.His54ProfsTer13) c.237dup (p.Thr80HisfsTer?) n.142dup c.145dup (p.His49ProfsTer13) | |
15 | g.67164981A= | CA2184410347 | SMAD3 | c.-23A= (n.-23A=) c.293A= (p.His98=) c.161A= (p.His54=) c.238A= (p.Thr80=) n.143A= c.146A= (p.His49=) | |
15 | g.67164981A>C | CA392953946 | SMAD3 | c.-23A>C (n.-23A>C) c.293A>C (p.His98Pro) c.161A>C (p.His54Pro) c.238A>C (p.Thr80Pro) n.143A>C c.146A>C (p.His49Pro) | dbSNP |
15 | g.67164981A>G | CA392953947 | SMAD3 | c.-23A>G (n.-23A>G) c.293A>G (p.His98Arg) c.161A>G (p.His54Arg) c.238A>G (p.Thr80Ala) n.143A>G c.146A>G (p.His49Arg) | gnomAD v4 |
15 | g.67164981A>T | CA392953948 | SMAD3 | c.-23A>T (n.-23A>T) c.293A>T (p.His98Leu) c.161A>T (p.His54Leu) c.238A>T (p.Thr80Ser) n.143A>T c.146A>T (p.His49Leu) | |
15 | g.67164982C>A | CA392953949 | SMAD3 | c.-22C>A (n.-22C>A) c.294C>A (p.His98Gln) c.162C>A (p.His54Gln) c.239C>A (p.Thr80Lys) n.144C>A c.147C>A (p.His49Gln) | |
15 | g.67164982C= | CA2184410348 | SMAD3 | c.-22C= (n.-22C=) c.294C= (p.His98=) c.162C= (p.His54=) c.239C= (p.Thr80=) n.144C= c.147C= (p.His49=) | |
15 | g.67164982C>G | CA392953950 | SMAD3 | c.-22C>G (n.-22C>G) c.294C>G (p.His98Gln) c.162C>G (p.His54Gln) c.239C>G (p.Thr80Arg) n.144C>G c.147C>G (p.His49Gln) | |
15 | g.67164982C>T | CA062099 | SMAD3 | c.-22C>T (n.-22C>T) c.294C>T (p.His98=) c.162C>T (p.His54=) c.239C>T (p.Thr80Ile) n.144C>T c.147C>T (p.His49=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.67164983A>C | CA392953951 | SMAD3 | c.-21A>C (n.-21A>C) c.295A>C (p.Ser99Arg) c.163A>C (p.Ser55Arg) c.240A>C (p.Thr80=) n.145A>C c.148A>C (p.Ser50Arg) | |
15 | g.67164983A>G | CA392953952 | SMAD3 | c.-21A>G (n.-21A>G) c.295A>G (p.Ser99Gly) c.163A>G (p.Ser55Gly) c.240A>G (p.Thr80=) n.145A>G c.148A>G (p.Ser50Gly) | ClinVar |
15 | g.67164983A>T | CA392953953 | SMAD3 | c.-21A>T (n.-21A>T) c.295A>T (p.Ser99Cys) c.163A>T (p.Ser55Cys) c.240A>T (p.Thr80=) n.145A>T c.148A>T (p.Ser50Cys) | |
15 | g.67164984G>A | CA392953954 | SMAD3 | c.-20G>A (n.-20G>A) c.296G>A (p.Ser99Asn) c.164G>A (p.Ser55Asn) c.241G>A (p.Ala81Thr) n.146G>A c.149G>A (p.Ser50Asn) | dbSNP |
15 | g.67164984G>C | CA392953955 | SMAD3 | c.-20G>C (n.-20G>C) c.296G>C (p.Ser99Thr) c.164G>C (p.Ser55Thr) c.241G>C (p.Ala81Pro) n.146G>C c.149G>C (p.Ser50Thr) | dbSNP |
15 | g.67164984G= | CA2184410349 | SMAD3 | c.-20G= (n.-20G=) c.296G= (p.Ser99=) c.164G= (p.Ser55=) c.241G= (p.Ala81=) n.146G= c.149G= (p.Ser50=) | |
15 | g.67164984G>T | CA392953956 | SMAD3 | c.-20G>T (n.-20G>T) c.296G>T (p.Ser99Ile) c.164G>T (p.Ser55Ile) c.241G>T (p.Ala81Ser) n.146G>T c.149G>T (p.Ser50Ile) | |
15 | g.67164985C>A | CA392953957 | SMAD3 | c.-19C>A (n.-19C>A) c.297C>A (p.Ser99Arg) c.165C>A (p.Ser55Arg) c.242C>A (p.Ala81Asp) n.147C>A c.150C>A (p.Ser50Arg) | |
15 | g.67164985C>G | CA392953959 | SMAD3 | c.-19C>G (n.-19C>G) c.297C>G (p.Ser99Arg) c.165C>G (p.Ser55Arg) c.242C>G (p.Ala81Gly) n.147C>G c.150C>G (p.Ser50Arg) | |
15 | g.67164985C>T | CA392953958 | SMAD3 | c.-19C>T (n.-19C>T) c.297C>T (p.Ser99=) c.165C>T (p.Ser55=) c.242C>T (p.Ala81Val) n.147C>T c.150C>T (p.Ser50=) | dbSNP |
15 | g.67164989_67164991del | CA2697549140 | SMAD3 | c.-15_-13del (n.-15_-13del) c.301_303del (p.His101del) c.169_171del (p.His57del) c.246_248del (p.Thr83del) n.151_153del c.154_156del (p.His52del) | ClinVar |
15 | g.67164986C>A | CA392953960 | SMAD3 | c.-18C>A (n.-18C>A) c.298C>A (p.His100Asn) c.166C>A (p.His56Asn) c.243C>A (p.Ala81=) n.148C>A c.151C>A (p.His51Asn) | |
15 | g.67164986C>G | CA392953962 | SMAD3 | c.-18C>G (n.-18C>G) c.298C>G (p.His100Asp) c.166C>G (p.His56Asp) c.243C>G (p.Ala81=) n.148C>G c.151C>G (p.His51Asp) | |
15 | g.67164986C>T | CA392953961 | SMAD3 | c.-18C>T (n.-18C>T) c.298C>T (p.His100Tyr) c.166C>T (p.His56Tyr) c.243C>T (p.Ala81=) n.148C>T c.151C>T (p.His51Tyr) | gnomAD v4 |
15 | g.67164987A= | CA2184410350 | SMAD3 | c.-17A= (n.-17A=) c.299A= (p.His100=) c.167A= (p.His56=) c.244A= (p.Thr82=) n.149A= c.152A= (p.His51=) | |
15 | g.67164987A>C | CA392953963 | SMAD3 | c.-17A>C (n.-17A>C) c.299A>C (p.His100Pro) c.167A>C (p.His56Pro) c.244A>C (p.Thr82Pro) n.149A>C c.152A>C (p.His51Pro) | |
15 | g.67164987A>G | CA392953965 | SMAD3 | c.-17A>G (n.-17A>G) c.299A>G (p.His100Arg) c.167A>G (p.His56Arg) c.244A>G (p.Thr82Ala) n.149A>G c.152A>G (p.His51Arg) | dbSNP gnomAD v4 |
15 | g.67164987A>T | CA392953964 | SMAD3 | c.-17A>T (n.-17A>T) c.299A>T (p.His100Leu) c.167A>T (p.His56Leu) c.244A>T (p.Thr82Ser) n.149A>T c.152A>T (p.His51Leu) | |
15 | g.67164988C>A | CA392953966 | SMAD3 | c.-16C>A (n.-16C>A) c.300C>A (p.His100Gln) c.168C>A (p.His56Gln) c.245C>A (p.Thr82Asn) n.150C>A c.153C>A (p.His51Gln) | |
15 | g.67164988C>G | CA392953967 | SMAD3 | c.-16C>G (n.-16C>G) c.300C>G (p.His100Gln) c.168C>G (p.His56Gln) c.245C>G (p.Thr82Ser) n.150C>G c.153C>G (p.His51Gln) | |
15 | g.67164988C>T | CA392953968 | SMAD3 | c.-16C>T (n.-16C>T) c.300C>T (p.His100=) c.168C>T (p.His56=) c.245C>T (p.Thr82Ile) n.150C>T c.153C>T (p.His51=) | gnomAD v4 |
15 | g.67164988_67164989insAGGGCCGGCAGGC | CA658820888 | SMAD3 | c.-16_-15insAGGGCCGGCAGGC (n.-16_-15insAGGGCCGGCAGGC) c.300_301insAGGGCCGGCAGGC (p.His101ArgfsTer14) c.168_169insAGGGCCGGCAGGC (p.His57ArgfsTer14) c.245_246insAGGGCCGGCAGGC (p.Thr83GlyfsTer?) n.150_151insAGGGCCGGCAGGC c.153_154insAGGGCCGGCAGGC (p.His52ArgfsTer14) | |
15 | g.67164989C>A | CA392953969 | SMAD3 | c.-15C>A (n.-15C>A) c.301C>A (p.His101Asn) c.169C>A (p.His57Asn) c.246C>A (p.Thr82=) n.151C>A c.154C>A (p.His52Asn) | dbSNP |
15 | g.67164989C= | CA2184410351 | SMAD3 | c.-15C= (n.-15C=) c.301C= (p.His101=) c.169C= (p.His57=) c.246C= (p.Thr82=) n.151C= c.154C= (p.His52=) | |
15 | g.67164989C>G | CA392953970 | SMAD3 | c.-15C>G (n.-15C>G) c.301C>G (p.His101Asp) c.169C>G (p.His57Asp) c.246C>G (p.Thr82=) n.151C>G c.154C>G (p.His52Asp) | |
15 | g.67164989C>T | CA392953971 | SMAD3 | c.-15C>T (n.-15C>T) c.301C>T (p.His101Tyr) c.169C>T (p.His57Tyr) c.246C>T (p.Thr82=) n.151C>T c.154C>T (p.His52Tyr) | |
15 | g.67164990A>C | CA392953974 | SMAD3 | c.-14A>C (n.-14A>C) c.302A>C (p.His101Pro) c.170A>C (p.His57Pro) c.247A>C (p.Thr83Pro) n.152A>C c.155A>C (p.His52Pro) | |
15 | g.67164990A>G | CA392953973 | SMAD3 | c.-14A>G (n.-14A>G) c.302A>G (p.His101Arg) c.170A>G (p.His57Arg) c.247A>G (p.Thr83Ala) n.152A>G c.155A>G (p.His52Arg) | gnomAD v4 |
15 | g.67164990A>T | CA392953972 | SMAD3 | c.-14A>T (n.-14A>T) c.302A>T (p.His101Leu) c.170A>T (p.His57Leu) c.247A>T (p.Thr83Ser) n.152A>T c.155A>T (p.His52Leu) | dbSNP |
15 | g.67164991C>A | CA392953975 | SMAD3 | c.-13C>A (n.-13C>A) c.303C>A (p.His101Gln) c.171C>A (p.His57Gln) c.248C>A (p.Thr83Lys) n.153C>A c.156C>A (p.His52Gln) | |
15 | g.67164991C= | CA2184410352 | SMAD3 | c.-13C= (n.-13C=) c.303C= (p.His101=) c.171C= (p.His57=) c.248C= (p.Thr83=) n.153C= c.156C= (p.His52=) | |
15 | g.67164991C>G | CA392953976 | SMAD3 | c.-13C>G (n.-13C>G) c.303C>G (p.His101Gln) c.171C>G (p.His57Gln) c.248C>G (p.Thr83Arg) n.153C>G c.156C>G (p.His52Gln) | ClinVar |
15 | g.67164991C>T | CA272378584 | SMAD3 | c.-13C>T (n.-13C>T) c.303C>T (p.His101=) c.171C>T (p.His57=) c.248C>T (p.Thr83Met) n.153C>T c.156C>T (p.His52=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.67164991_67164992insTC | CA2825002293 | SMAD3 | c.-13_-12insTC (n.-13_-12insTC) c.303_304insTC (p.Glu102SerfsTer15) c.171_172insTC (p.Glu58SerfsTer15) c.248_249insTC (p.Ser84ArgfsTer9) n.153_154insTC c.156_157insTC (p.Glu53SerfsTer15) | ClinVar |
15 | g.67164992G>A | CA392953977 | SMAD3 | c.-12G>A (n.-12G>A) c.304G>A (p.Glu102Lys) c.172G>A (p.Glu58Lys) c.249G>A (p.Thr83=) n.154G>A c.157G>A (p.Glu53Lys) | ClinVar dbSNP gnomAD v4 |
15 | g.67164992G>C | CA392953978 | SMAD3 | c.-12G>C (n.-12G>C) c.304G>C (p.Glu102Gln) c.172G>C (p.Glu58Gln) c.249G>C (p.Thr83=) n.154G>C c.157G>C (p.Glu53Gln) | |
15 | g.67164992G= | CA2184410353 | SMAD3 | c.-12G= (n.-12G=) c.304G= (p.Glu102=) c.172G= (p.Glu58=) c.249G= (p.Thr83=) n.154G= c.157G= (p.Glu53=) | |
15 | g.67164992G>T | CA392953979 | SMAD3 | c.-12G>T (n.-12G>T) c.304G>T (p.Glu102Ter) c.172G>T (p.Glu58Ter) c.249G>T (p.Thr83=) n.154G>T c.157G>T (p.Glu53Ter) | ClinVar dbSNP |
15 | g.67164993A= | CA2184410354 | SMAD3 | c.-11A= (n.-11A=) c.305A= (p.Glu102=) c.173A= (p.Glu58=) c.250A= (p.Ser84=) n.155A= c.158A= (p.Glu53=) | |
15 | g.67164993A>C | CA392953980 | SMAD3 | c.-11A>C (n.-11A>C) c.305A>C (p.Glu102Ala) c.173A>C (p.Glu58Ala) c.250A>C (p.Ser84Arg) n.155A>C c.158A>C (p.Glu53Ala) | |
15 | g.67164993A>G | CA392953982 | SMAD3 | c.-11A>G (n.-11A>G) c.305A>G (p.Glu102Gly) c.173A>G (p.Glu58Gly) c.250A>G (p.Ser84Gly) n.155A>G c.158A>G (p.Glu53Gly) | |
15 | g.67164993A>T | CA392953981 | SMAD3 | c.-11A>T (n.-11A>T) c.305A>T (p.Glu102Val) c.173A>T (p.Glu58Val) c.250A>T (p.Ser84Cys) n.155A>T c.158A>T (p.Glu53Val) | |
15 | g.67164994G>A | CA392953983 | SMAD3 | c.-10G>A (n.-10G>A) c.306G>A (p.Glu102=) c.174G>A (p.Glu58=) c.251G>A (p.Ser84Asn) n.156G>A c.159G>A (p.Glu53=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.67164994G>C | CA392953984 | SMAD3 | c.-10G>C (n.-10G>C) c.306G>C (p.Glu102Asp) c.174G>C (p.Glu58Asp) c.251G>C (p.Ser84Thr) n.156G>C c.159G>C (p.Glu53Asp) | |
15 | g.67164994G= | CA2184410355 | SMAD3 | c.-10G= (n.-10G=) c.306G= (p.Glu102=) c.174G= (p.Glu58=) c.251G= (p.Ser84=) n.156G= c.159G= (p.Glu53=) | |
15 | g.67164994G>T | CA392953985 | SMAD3 | c.-10G>T (n.-10G>T) c.306G>T (p.Glu102Asp) c.174G>T (p.Glu58Asp) c.251G>T (p.Ser84Ile) n.156G>T c.159G>T (p.Glu53Asp) | |
15 | g.67164994dup | CA2843204192 | SMAD3 | c.-10dup (n.-10dup) c.306dup (p.Leu103AlafsTer8) c.174dup (p.Leu59AlafsTer8) c.251dup (p.Ser84ArgfsTer?) n.156dup c.159dup (p.Leu54AlafsTer8) | |
15 | g.67164994_67164996dup | CA1139664043 | SMAD3 | c.-10_-8dup (n.-10_-8dup) c.306_308dup (p.Leu103_Arg104insLeu) c.174_176dup (p.Leu59_Arg60insLeu) c.251_253dup (p.Ser84_Tyr85insCys) n.156_158dup c.159_161dup (p.Leu54_Arg55insLeu) | ClinVar dbSNP |
15 | g.67164995C>A | CA392953986 | SMAD3 | c.-9C>A (n.-9C>A) c.307C>A (p.Leu103Ile) c.175C>A (p.Leu59Ile) c.252C>A (p.Ser84Arg) n.157C>A c.160C>A (p.Leu54Ile) | |
15 | g.67164995C>G | CA392953987 | SMAD3 | c.-9C>G (n.-9C>G) c.307C>G (p.Leu103Val) c.175C>G (p.Leu59Val) c.252C>G (p.Ser84Arg) n.157C>G c.160C>G (p.Leu54Val) | |
15 | g.67164995C>T | CA491071605 | SMAD3 | c.-9C>T (n.-9C>T) c.307C>T (p.Leu103=) c.175C>T (p.Leu59=) c.252C>T (p.Ser84=) n.157C>T c.160C>T (p.Leu54=) | |
15 | g.67164996T>A | CA392953988 | SMAD3 | c.-8T>A (n.-8T>A) c.308T>A (p.Leu103Gln) c.176T>A (p.Leu59Gln) c.253T>A (p.Tyr85Asn) n.158T>A c.161T>A (p.Leu54Gln) | |
15 | g.67164996T>C | CA392953989 | SMAD3 | c.-8T>C (n.-8T>C) c.308T>C (p.Leu103Pro) c.176T>C (p.Leu59Pro) c.253T>C (p.Tyr85His) n.158T>C c.161T>C (p.Leu54Pro) | |
15 | g.67164996T>G | CA392953990 | SMAD3 | c.-8T>G (n.-8T>G) c.308T>G (p.Leu103Arg) c.176T>G (p.Leu59Arg) c.253T>G (p.Tyr85Asp) n.158T>G c.161T>G (p.Leu54Arg) | |
15 | g.67164996_67164997delinsCG | CA2573151067 | SMAD3 | c.-8_-7delinsCG (n.-8_-7delinsCG) c.308_309delinsCG (p.Leu103Pro) c.176_177delinsCG (p.Leu59Pro) c.253_254delinsCG (p.Tyr85Arg) n.158_159delinsCG c.161_162delinsCG (p.Leu54Pro) | ClinVar dbSNP |
15 | g.67164997A= | CA2184410356 | SMAD3 | c.-7A= (n.-7A=) c.309A= (p.Leu103=) c.177A= (p.Leu59=) c.254A= (p.Tyr85=) n.159A= c.162A= (p.Leu54=) | |
15 | g.67164997A>C | CA392953991 | SMAD3 | c.-7A>C (n.-7A>C) c.309A>C (p.Leu103=) c.177A>C (p.Leu59=) c.254A>C (p.Tyr85Ser) n.159A>C c.162A>C (p.Leu54=) | dbSNP |
15 | g.67164997A>G | CA019603 | SMAD3 | c.-7A>G (n.-7A>G) c.309A>G (p.Leu103=) c.177A>G (p.Leu59=) c.254A>G (p.Tyr85Cys) n.159A>G c.162A>G (p.Leu54=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.67164997A>T | CA16614882 | SMAD3 | c.-7A>T (n.-7A>T) c.309A>T (p.Leu103=) c.177A>T (p.Leu59=) c.254A>T (p.Tyr85Phe) n.159A>T c.162A>T (p.Leu54=) | ClinVar dbSNP gnomAD v4 |
15 | g.67164997_67164998delinsGT | CA1139664044 | SMAD3 | c.-7_-6delinsGT (n.-7_-6delinsGT) c.309_310delinsGT (p.Arg104Trp) c.177_178delinsGT (p.Arg60Trp) c.254_255delinsGT (p.Tyr85Cys) n.159_160delinsGT c.162_163delinsGT (p.Arg55Trp) | ClinVar |
15 | g.67164997_67164999delinsGCA | CA2573054095 | SMAD3 | c.-7_-5delinsGCA (n.-7_-5delinsGCA) c.309_311delinsGCA (p.Arg104Gln) c.177_179delinsGCA (p.Arg60Gln) c.254_256delinsGCA (p.Tyr85_Gly86delinsCysArg) n.159_161delinsGCA c.162_164delinsGCA (p.Arg55Gln) | ClinVar dbSNP |
15 | g.67164998C>A | CA392953992 | SMAD3 | c.-6C>A (n.-6C>A) c.310C>A (p.Arg104=) c.178C>A (p.Arg60=) c.255C>A (p.Tyr85Ter) n.160C>A c.163C>A (p.Arg55=) | |
15 | g.67164998C= | CA2184410358 | SMAD3 | c.-6C= (n.-6C=) c.310C= (p.Arg104=) c.178C= (p.Arg60=) c.255C= (p.Tyr85=) n.160C= c.163C= (p.Arg55=) | |
15 | g.67164998C>G | CA392953994 | SMAD3 | c.-6C>G (n.-6C>G) c.310C>G (p.Arg104Gly) c.178C>G (p.Arg60Gly) c.255C>G (p.Tyr85Ter) n.160C>G c.163C>G (p.Arg55Gly) | |
15 | g.67164998C>T | CA392953993 | SMAD3 | c.-6C>T (n.-6C>T) c.310C>T (p.Arg104Trp) c.178C>T (p.Arg60Trp) c.255C>T (p.Tyr85=) n.160C>T c.163C>T (p.Arg55Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.67164998_67164999delinsCG | CA2184410357 | SMAD3 | c.-6_-5delinsCG (n.-6_-5delinsCG) c.310_311delinsCG (p.Arg104=) c.178_179delinsCG (p.Arg60=) c.255_256delinsCG (p.Tyr85=) n.160_161delinsCG c.163_164delinsCG (p.Arg55=) | |
15 | g.67164999G>A | CA062114 | SMAD3 | c.-5G>A (n.-5G>A) c.311G>A (p.Arg104Gln) c.179G>A (p.Arg60Gln) c.256G>A (p.Gly86Arg) n.161G>A c.164G>A (p.Arg55Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.67164999G>C | CA392953995 | SMAD3 | c.-5G>C (n.-5G>C) c.311G>C (p.Arg104Pro) c.179G>C (p.Arg60Pro) c.256G>C (p.Gly86Arg) n.161G>C c.164G>C (p.Arg55Pro) | |
15 | g.67164999G= | CA2184410359 | SMAD3 | c.-5G= (n.-5G=) c.311G= (p.Arg104=) c.179G= (p.Arg60=) c.256G= (p.Gly86=) n.161G= c.164G= (p.Arg55=) | |
15 | g.67164999G>T | CA392953996 | SMAD3 | c.-5G>T (n.-5G>T) c.311G>T (p.Arg104Leu) c.179G>T (p.Arg60Leu) c.256G>T (p.Gly86Trp) n.161G>T c.164G>T (p.Arg55Leu) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.67165001del | CA020072 | SMAD3 | c.-3del (n.-3del) c.313del (p.Ala105ProfsTer11) c.181del (p.Ala61ProfsTer11) c.258del (p.Pro87HisfsTer5) n.163del c.166del (p.Ala56ProfsTer11) | ClinVar dbSNP |
15 | g.67165000G>A | CA392953997 | SMAD3 | c.-4G>A (n.-4G>A) c.312G>A (p.Arg104=) c.180G>A (p.Arg60=) c.257G>A (p.Gly86Glu) n.162G>A c.165G>A (p.Arg55=) | |
15 | g.67165000G>C | CA392953998 | SMAD3 | c.-4G>C (n.-4G>C) c.312G>C (p.Arg104=) c.180G>C (p.Arg60=) c.257G>C (p.Gly86Ala) n.162G>C c.165G>C (p.Arg55=) | |
15 | g.67165000G>T | CA392953999 | SMAD3 | c.-4G>T (n.-4G>T) c.312G>T (p.Arg104=) c.180G>T (p.Arg60=) c.257G>T (p.Gly86Val) n.162G>T c.165G>T (p.Arg55=) | |
15 | g.67165001G>A | CA392954000 | SMAD3 | c.-3G>A (n.-3G>A) c.313G>A (p.Ala105Thr) c.181G>A (p.Ala61Thr) c.258G>A (p.Gly86=) n.163G>A c.166G>A (p.Ala56Thr) | dbSNP |
15 | g.67165001G>C | CA392954001 | SMAD3 | c.-3G>C (n.-3G>C) c.313G>C (p.Ala105Pro) c.181G>C (p.Ala61Pro) c.258G>C (p.Gly86=) n.163G>C c.166G>C (p.Ala56Pro) | ClinVar dbSNP |
15 | g.67165001G= | CA2184410360 | SMAD3 | c.-3G= (n.-3G=) c.313G= (p.Ala105=) c.181G= (p.Ala61=) c.258G= (p.Gly86=) n.163G= c.166G= (p.Ala56=) | |
15 | g.67165001G>T | CA392954002 | SMAD3 | c.-3G>T (n.-3G>T) c.313G>T (p.Ala105Ser) c.181G>T (p.Ala61Ser) c.258G>T (p.Gly86=) n.163G>T c.166G>T (p.Ala56Ser) | ClinVar gnomAD v3 gnomAD v4 |
15 | g.67165001_67165002delinsTT | CA2580613860 | SMAD3 | c.-3_-2delinsTT (n.-3_-2delinsTT) c.313_314delinsTT (p.Ala105Phe) c.181_182delinsTT (p.Ala61Phe) c.258_259delinsTT (p.Pro87Ser) n.163_164delinsTT c.166_167delinsTT (p.Ala56Phe) | ClinVar |
15 | g.67165002C>A | CA392954003 | SMAD3 | c.-2C>A (n.-2C>A) c.314C>A (p.Ala105Asp) c.182C>A (p.Ala61Asp) c.259C>A (p.Pro87Thr) n.164C>A c.167C>A (p.Ala56Asp) | |
15 | g.67165002C>G | CA392954004 | SMAD3 | c.-2C>G (n.-2C>G) c.314C>G (p.Ala105Gly) c.182C>G (p.Ala61Gly) c.259C>G (p.Pro87Ala) n.164C>G c.167C>G (p.Ala56Gly) | |
15 | g.67165002C>T | CA392954005 | SMAD3 | c.-2C>T (n.-2C>T) c.314C>T (p.Ala105Val) c.182C>T (p.Ala61Val) c.259C>T (p.Pro87Ser) n.164C>T c.167C>T (p.Ala56Val) | ClinVar dbSNP COSMIC |
15 | g.67165003C>A | CA392954006 | SMAD3 | c.-1C>A (n.-1C>A) c.315C>A (p.Ala105=) c.183C>A (p.Ala61=) c.260C>A (p.Pro87Gln) n.165C>A c.168C>A (p.Ala56=) | |
15 | g.67165003C>G | CA392954008 | SMAD3 | c.-1C>G (n.-1C>G) c.315C>G (p.Ala105=) c.183C>G (p.Ala61=) c.260C>G (p.Pro87Arg) n.165C>G c.168C>G (p.Ala56=) | |
15 | g.67165003C>T | CA392954007 | SMAD3 | c.-1C>T (n.-1C>T) c.315C>T (p.Ala105=) c.183C>T (p.Ala61=) c.260C>T (p.Pro87Leu) n.165C>T c.168C>T (p.Ala56=) | |
15 | g.67165004A= | CA2184410361 | SMAD3 | c.1A= (p.Met1=) c.316A= (p.Met106=) c.184A= (p.Met62=) c.261A= (p.Pro87=) n.166A= c.169A= (p.Met57=) | |
15 | g.67165004A>C | CA392954009 | SMAD3 | c.1A>C (p.Met1Leu) c.316A>C (p.Met106Leu) c.184A>C (p.Met62Leu) c.261A>C (p.Pro87=) n.166A>C c.169A>C (p.Met57Leu) | |
15 | g.67165004A>G | CA062116 | SMAD3 | c.1A>G (p.Met1Val) c.316A>G (p.Met106Val) c.184A>G (p.Met62Val) c.261A>G (p.Pro87=) n.166A>G c.169A>G (p.Met57Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.67165004A>T | CA392954010 | SMAD3 | c.1A>T (p.Met1Leu) c.316A>T (p.Met106Leu) c.184A>T (p.Met62Leu) c.261A>T (p.Pro87=) n.166A>T c.169A>T (p.Met57Leu) | ClinVar |
15 | g.67165005T>A | CA392954011 | SMAD3 | c.2T>A (p.Met1Lys) c.317T>A (p.Met106Lys) c.185T>A (p.Met62Lys) c.262T>A (p.Trp88Arg) n.167T>A c.170T>A (p.Met57Lys) | |
15 | g.67165005T>C | CA392954012 | SMAD3 | c.2T>C (p.Met1Thr) c.317T>C (p.Met106Thr) c.185T>C (p.Met62Thr) c.262T>C (p.Trp88Arg) n.167T>C c.170T>C (p.Met57Thr) | ClinVar dbSNP gnomAD v4 |
15 | g.67165005T>G | CA392954013 | SMAD3 | c.2T>G (p.Met1Arg) c.317T>G (p.Met106Arg) c.185T>G (p.Met62Arg) c.262T>G (p.Trp88Gly) n.167T>G c.170T>G (p.Met57Arg) | gnomAD v4 |
15 | g.67165005T= | CA2184410362 | SMAD3 | c.2T= (p.Met1=) c.317T= (p.Met106=) c.185T= (p.Met62=) c.262T= (p.Trp88=) n.167T= c.170T= (p.Met57=) | |
15 | g.67165006G>A | CA392954014 | SMAD3 | c.3G>A (p.Met1Ile) c.318G>A (p.Met106Ile) c.186G>A (p.Met62Ile) c.263G>A (p.Trp88Ter) n.168G>A c.171G>A (p.Met57Ile) | |
15 | g.67165006G>C | CA392954015 | SMAD3 | c.3G>C (p.Met1Ile) c.318G>C (p.Met106Ile) c.186G>C (p.Met62Ile) c.263G>C (p.Trp88Ser) n.168G>C c.171G>C (p.Met57Ile) | |
15 | g.67165006G>T | CA392954016 | SMAD3 | c.3G>T (p.Met1Ile) c.318G>T (p.Met106Ile) c.186G>T (p.Met62Ile) c.263G>T (p.Trp88Leu) n.168G>T c.171G>T (p.Met57Ile) | |
15 | g.67165007G>A | CA392954019 | SMAD3 | c.4G>A (p.Glu2Lys) c.319G>A (p.Glu107Lys) c.187G>A (p.Glu63Lys) c.264G>A (p.Trp88Ter) n.169G>A c.172G>A (p.Glu58Lys) | |
15 | g.67165007G>C | CA392954018 | SMAD3 | c.4G>C (p.Glu2Gln) c.319G>C (p.Glu107Gln) c.187G>C (p.Glu63Gln) c.264G>C (p.Trp88Cys) n.169G>C c.172G>C (p.Glu58Gln) | |
15 | g.67165007G>T | CA392954017 | SMAD3 | c.4G>T (p.Glu2Ter) c.319G>T (p.Glu107Ter) c.187G>T (p.Glu63Ter) c.264G>T (p.Trp88Cys) n.169G>T c.172G>T (p.Glu58Ter) | gnomAD v4 |
15 | g.67165008A>C | CA392954020 | SMAD3 | c.5A>C (p.Glu2Ala) c.320A>C (p.Glu107Ala) c.188A>C (p.Glu63Ala) c.265A>C (p.Ser89Arg) n.170A>C c.173A>C (p.Glu58Ala) | |
15 | g.67165008A>G | CA392954021 | SMAD3 | c.5A>G (p.Glu2Gly) c.320A>G (p.Glu107Gly) c.188A>G (p.Glu63Gly) c.265A>G (p.Ser89Gly) n.170A>G c.173A>G (p.Glu58Gly) | ClinVar |
15 | g.67165008A>T | CA392954022 | SMAD3 | c.5A>T (p.Glu2Val) c.320A>T (p.Glu107Val) c.188A>T (p.Glu63Val) c.265A>T (p.Ser89Cys) n.170A>T c.173A>T (p.Glu58Val) | gnomAD v4 |
15 | g.67165009G>A | CA392954023 | SMAD3 | c.6G>A (p.Glu2=) c.321G>A (p.Glu107=) c.189G>A (p.Glu63=) c.266G>A (p.Ser89Asn) n.171G>A c.174G>A (p.Glu58=) | ClinVar dbSNP |
15 | g.67165009G>C | CA392954024 | SMAD3 | c.6G>C (p.Glu2Asp) c.321G>C (p.Glu107Asp) c.189G>C (p.Glu63Asp) c.266G>C (p.Ser89Thr) n.171G>C c.174G>C (p.Glu58Asp) | |
15 | g.67165009G= | CA2184410363 | SMAD3 | c.6G= (p.Glu2=) c.321G= (p.Glu107=) c.189G= (p.Glu63=) c.266G= (p.Ser89=) n.171G= c.174G= (p.Glu58=) | |
15 | g.67165009G>T | CA392954025 | SMAD3 | c.6G>T (p.Glu2Asp) c.321G>T (p.Glu107Asp) c.189G>T (p.Glu63Asp) c.266G>T (p.Ser89Ile) n.171G>T c.174G>T (p.Glu58Asp) | dbSNP |
15 | g.67165010C>A | CA392954027 | SMAD3 | c.7C>A (p.Leu3Met) c.322C>A (p.Leu108Met) c.190C>A (p.Leu64Met) c.267C>A (p.Ser89Arg) n.172C>A c.175C>A (p.Leu59Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.67165010C= | CA2184410364 | SMAD3 | c.7C= (p.Leu3=) c.322C= (p.Leu108=) c.190C= (p.Leu64=) c.267C= (p.Ser89=) n.172C= c.175C= (p.Leu59=) | |
15 | g.67165010C>G | CA392954026 | SMAD3 | c.7C>G (p.Leu3Val) c.322C>G (p.Leu108Val) c.190C>G (p.Leu64Val) c.267C>G (p.Ser89Arg) n.172C>G c.175C>G (p.Leu59Val) | |
15 | g.67165010C>T | CA491071608 | SMAD3 | c.7C>T (p.Leu3=) c.322C>T (p.Leu108=) c.190C>T (p.Leu64=) c.267C>T (p.Ser89=) n.172C>T c.175C>T (p.Leu59=) | dbSNP gnomAD v4 |
15 | g.67165010_67165012delinsCTG | CA2184410365 | SMAD3 | c.7_9delinsCTG (p.Leu3=) c.322_324delinsCTG (p.Leu108=) c.190_192delinsCTG (p.Leu64=) c.267_269delinsCTG (p.Ser89=) n.172_174delinsCTG c.175_177delinsCTG (p.Leu59=) | |
15 | g.67165011T>A | CA392954028 | SMAD3 | c.8T>A (p.Leu3Gln) c.323T>A (p.Leu108Gln) c.191T>A (p.Leu64Gln) c.268T>A (p.Cys90Ser) n.173T>A c.176T>A (p.Leu59Gln) | |
15 | g.67165011T>C | CA392954029 | SMAD3 | c.8T>C (p.Leu3Pro) c.323T>C (p.Leu108Pro) c.191T>C (p.Leu64Pro) c.268T>C (p.Cys90Arg) n.173T>C c.176T>C (p.Leu59Pro) | |
15 | g.67165011T>G | CA392954030 | SMAD3 | c.8T>G (p.Leu3Arg) c.323T>G (p.Leu108Arg) c.191T>G (p.Leu64Arg) c.268T>G (p.Cys90Gly) n.173T>G c.176T>G (p.Leu59Arg) | ClinVar dbSNP gnomAD v4 |
15 | g.67165011T= | CA2184410366 | SMAD3 | c.8T= (p.Leu3=) c.323T= (p.Leu108=) c.191T= (p.Leu64=) c.268T= (p.Cys90=) n.173T= c.176T= (p.Leu59=) | |
15 | g.67165015_67165016del | CA618958998 | SMAD3 | c.12_13del (p.Cys4Ter) c.327_328del (p.Cys109Ter) c.195_196del (p.Cys65Ter) c.272_273del (p.Val91GlufsTer?) n.177_178del c.180_181del (p.Cys60Ter) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.67165012G>A | CA392954031 | SMAD3 | c.9G>A (p.Leu3=) c.324G>A (p.Leu108=) c.192G>A (p.Leu64=) c.269G>A (p.Cys90Tyr) n.174G>A c.177G>A (p.Leu59=) | |
15 | g.67165012G>C | CA392954032 | SMAD3 | c.9G>C (p.Leu3=) c.324G>C (p.Leu108=) c.192G>C (p.Leu64=) c.269G>C (p.Cys90Ser) n.174G>C c.177G>C (p.Leu59=) | gnomAD v4 |
15 | g.67165012G>T | CA392954033 | SMAD3 | c.9G>T (p.Leu3=) c.324G>T (p.Leu108=) c.192G>T (p.Leu64=) c.269G>T (p.Cys90Phe) n.174G>T c.177G>T (p.Leu59=) | |
15 | g.67165013T>A | CA392954036 | SMAD3 | c.10T>A (p.Cys4Ser) c.325T>A (p.Cys109Ser) c.193T>A (p.Cys65Ser) c.270T>A (p.Cys90Ter) n.175T>A c.178T>A (p.Cys60Ser) | ClinVar dbSNP |
15 | g.67165013T>C | CA392954034 | SMAD3 | c.10T>C (p.Cys4Arg) c.325T>C (p.Cys109Arg) c.193T>C (p.Cys65Arg) c.270T>C (p.Cys90=) n.175T>C c.178T>C (p.Cys60Arg) | ClinVar dbSNP |
15 | g.67165013T>G | CA392954035 | SMAD3 | c.10T>G (p.Cys4Gly) c.325T>G (p.Cys109Gly) c.193T>G (p.Cys65Gly) c.270T>G (p.Cys90Trp) n.175T>G c.178T>G (p.Cys60Gly) | |
15 | g.67165013T= | CA2184410367 | SMAD3 | c.10T= (p.Cys4=) c.325T= (p.Cys109=) c.193T= (p.Cys65=) c.270T= (p.Cys90=) n.175T= c.178T= (p.Cys60=) | |
15 | g.67165014G>A | CA10583258 | SMAD3 | c.11G>A (p.Cys4Tyr) c.326G>A (p.Cys109Tyr) c.194G>A (p.Cys65Tyr) c.271G>A (p.Val91Met) n.176G>A c.179G>A (p.Cys60Tyr) | ClinVar dbSNP |
15 | g.67165014G>C | CA392954037 | SMAD3 | c.11G>C (p.Cys4Ser) c.326G>C (p.Cys109Ser) c.194G>C (p.Cys65Ser) c.271G>C (p.Val91Leu) n.176G>C c.179G>C (p.Cys60Ser) | |
15 | g.67165014G= | CA2184410368 | SMAD3 | c.11G= (p.Cys4=) c.326G= (p.Cys109=) c.194G= (p.Cys65=) c.271G= (p.Val91=) n.176G= c.179G= (p.Cys60=) | |
15 | g.67165014G>T | CA392954038 | SMAD3 | c.11G>T (p.Cys4Phe) c.326G>T (p.Cys109Phe) c.194G>T (p.Cys65Phe) c.271G>T (p.Val91Leu) n.176G>T c.179G>T (p.Cys60Phe) | |
15 | g.67165015T>A | CA392954039 | SMAD3 | c.12T>A (p.Cys4Ter) c.327T>A (p.Cys109Ter) c.195T>A (p.Cys65Ter) c.272T>A (p.Val91Glu) n.177T>A c.180T>A (p.Cys60Ter) | |
15 | g.67165015T>C | CA392954040 | SMAD3 | c.12T>C (p.Cys4=) c.327T>C (p.Cys109=) c.195T>C (p.Cys65=) c.272T>C (p.Val91Ala) n.177T>C c.180T>C (p.Cys60=) | |
15 | g.67165015T>G | CA392954041 | SMAD3 | c.12T>G (p.Cys4Trp) c.327T>G (p.Cys109Trp) c.195T>G (p.Cys65Trp) c.272T>G (p.Val91Gly) n.177T>G c.180T>G (p.Cys60Trp) | |
15 | g.67165016G>A | CA392954042 | SMAD3 | c.13G>A (p.Glu5Lys) c.328G>A (p.Glu110Lys) c.196G>A (p.Glu66Lys) c.273G>A (p.Val91=) n.178G>A c.181G>A (p.Glu61Lys) | |
15 | g.67165016G>C | CA392954043 | SMAD3 | c.13G>C (p.Glu5Gln) c.328G>C (p.Glu110Gln) c.196G>C (p.Glu66Gln) c.273G>C (p.Val91=) n.178G>C c.181G>C (p.Glu61Gln) | |
15 | g.67165016G>T | CA392954044 | SMAD3 | c.13G>T (p.Glu5Ter) c.328G>T (p.Glu110Ter) c.196G>T (p.Glu66Ter) c.273G>T (p.Val91=) n.178G>T c.181G>T (p.Glu61Ter) | |
15 | g.67165017A>C | CA392954045 | SMAD3 | c.14A>C (p.Glu5Ala) c.329A>C (p.Glu110Ala) c.197A>C (p.Glu66Ala) c.274A>C (p.Ser92Arg) n.179A>C c.182A>C (p.Glu61Ala) | |
15 | g.67165017A>G | CA392954046 | SMAD3 | c.14A>G (p.Glu5Gly) c.329A>G (p.Glu110Gly) c.197A>G (p.Glu66Gly) c.274A>G (p.Ser92Gly) n.179A>G c.182A>G (p.Glu61Gly) | |
15 | g.67165017A>T | CA392954047 | SMAD3 | c.14A>T (p.Glu5Val) c.329A>T (p.Glu110Val) c.197A>T (p.Glu66Val) c.274A>T (p.Ser92Cys) n.179A>T c.182A>T (p.Glu61Val) | |
15 | g.67165018G>A | CA392954048 | SMAD3 | c.15G>A (p.Glu5=) c.330G>A (p.Glu110=) c.198G>A (p.Glu66=) c.275G>A (p.Ser92Asn) n.180G>A c.183G>A (p.Glu61=) | ClinVar dbSNP |
15 | g.67165018G>C | CA392954050 | SMAD3 | c.15G>C (p.Glu5Asp) c.330G>C (p.Glu110Asp) c.198G>C (p.Glu66Asp) c.275G>C (p.Ser92Thr) n.180G>C c.183G>C (p.Glu61Asp) | |
15 | g.67165018G= | CA2184410369 | SMAD3 | c.15G= (p.Glu5=) c.330G= (p.Glu110=) c.198G= (p.Glu66=) c.275G= (p.Ser92=) n.180G= c.183G= (p.Glu61=) | |
15 | g.67165018G>T | CA392954049 | SMAD3 | c.15G>T (p.Glu5Asp) c.330G>T (p.Glu110Asp) c.198G>T (p.Glu66Asp) c.275G>T (p.Ser92Ile) n.180G>T c.183G>T (p.Glu61Asp) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.67165019T>A | CA392954051 | SMAD3 | c.16T>A (p.Phe6Ile) c.331T>A (p.Phe111Ile) c.199T>A (p.Phe67Ile) c.276T>A (p.Ser92Arg) n.181T>A c.184T>A (p.Phe62Ile) | |
15 | g.67165019T>C | CA392954052 | SMAD3 | c.16T>C (p.Phe6Leu) c.331T>C (p.Phe111Leu) c.199T>C (p.Phe67Leu) c.276T>C (p.Ser92=) n.181T>C c.184T>C (p.Phe62Leu) | ClinVar dbSNP |
15 | g.67165019T>G | CA392954053 | SMAD3 | c.16T>G (p.Phe6Val) c.331T>G (p.Phe111Val) c.199T>G (p.Phe67Val) c.276T>G (p.Ser92Arg) n.181T>G c.184T>G (p.Phe62Val) | |
15 | g.67165019T= | CA2184410370 | SMAD3 | c.16T= (p.Phe6=) c.331T= (p.Phe111=) c.199T= (p.Phe67=) c.276T= (p.Ser92=) n.181T= c.184T= (p.Phe62=) | |
15 | g.67165020T>A | CA392954054 | SMAD3 | c.17T>A (p.Phe6Tyr) c.332T>A (p.Phe111Tyr) c.200T>A (p.Phe67Tyr) c.277T>A (p.Ser93Thr) n.182T>A c.185T>A (p.Phe62Tyr) | |
15 | g.67165020T>C | CA392954055 | SMAD3 | c.17T>C (p.Phe6Ser) c.332T>C (p.Phe111Ser) c.200T>C (p.Phe67Ser) c.277T>C (p.Ser93Pro) n.182T>C c.185T>C (p.Phe62Ser) | |
15 | g.67165020T>G | CA392954056 | SMAD3 | c.17T>G (p.Phe6Cys) c.332T>G (p.Phe111Cys) c.200T>G (p.Phe67Cys) c.277T>G (p.Ser93Ala) n.182T>G c.185T>G (p.Phe62Cys) | |
15 | g.67165021C>A | CA392954057 | SMAD3 | c.18C>A (p.Phe6Leu) c.333C>A (p.Phe111Leu) c.201C>A (p.Phe67Leu) c.278C>A (p.Ser93Ter) n.183C>A c.186C>A (p.Phe62Leu) | |
15 | g.67165021C= | CA2184410371 | SMAD3 | c.18C= (p.Phe6=) c.333C= (p.Phe111=) c.201C= (p.Phe67=) c.278C= (p.Ser93=) n.183C= c.186C= (p.Phe62=) | |
15 | g.67165021C>G | CA392954058 | SMAD3 | c.18C>G (p.Phe6Leu) c.333C>G (p.Phe111Leu) c.201C>G (p.Phe67Leu) c.278C>G (p.Ser93Trp) n.183C>G c.186C>G (p.Phe62Leu) | |
15 | g.67165021C>T | CA062118 | SMAD3 | c.18C>T (p.Phe6=) c.333C>T (p.Phe111=) c.201C>T (p.Phe67=) c.278C>T (p.Ser93Leu) n.183C>T c.186C>T (p.Phe62=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
15 | g.67165022G>A | CA062122 | SMAD3 | c.19G>A (p.Ala7Thr) c.334G>A (p.Ala112Thr) c.202G>A (p.Ala68Thr) c.279G>A (p.Ser93=) n.184G>A c.187G>A (p.Ala63Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.67165022G>C | CA392954059 | SMAD3 | c.19G>C (p.Ala7Pro) c.334G>C (p.Ala112Pro) c.202G>C (p.Ala68Pro) c.279G>C (p.Ser93=) n.184G>C c.187G>C (p.Ala63Pro) | gnomAD v4 |
15 | g.67165022G= | CA2184410372 | SMAD3 | c.19G= (p.Ala7=) c.334G= (p.Ala112=) c.202G= (p.Ala68=) c.279G= (p.Ser93=) n.184G= c.187G= (p.Ala63=) | |
15 | g.67165022G>T | CA272378585 | SMAD3 | c.19G>T (p.Ala7Ser) c.334G>T (p.Ala112Ser) c.202G>T (p.Ala68Ser) c.279G>T (p.Ser93=) n.184G>T c.187G>T (p.Ala63Ser) | dbSNP |
15 | g.67165022_67165023delinsCT | CA915946051 | SMAD3 | c.19_20delinsCT (p.Ala7Leu) c.334_335delinsCT (p.Ala112Leu) c.202_203delinsCT (p.Ala68Leu) c.279_280delinsCT (p.Pro94Ser) n.184_185delinsCT c.187_188delinsCT (p.Ala63Leu) | ClinVar dbSNP |
15 | g.67165022_67165023delinsGC | CA2184410373 | SMAD3 | c.19_20delinsGC (p.Ala7=) c.334_335delinsGC (p.Ala112=) c.202_203delinsGC (p.Ala68=) c.279_280delinsGC (p.Ser93=) n.184_185delinsGC c.187_188delinsGC (p.Ala63=) | |
15 | g.67165023C>A | CA392954061 | SMAD3 | c.20C>A (p.Ala7Asp) c.335C>A (p.Ala112Asp) c.203C>A (p.Ala68Asp) c.280C>A (p.Pro94Thr) n.185C>A c.188C>A (p.Ala63Asp) | ClinVar |
15 | g.67165023C= | CA2184410374 | SMAD3 | c.20C= (p.Ala7=) c.335C= (p.Ala112=) c.203C= (p.Ala68=) c.280C= (p.Pro94=) n.185C= c.188C= (p.Ala63=) | |
15 | g.67165023C>G | CA392954060 | SMAD3 | c.20C>G (p.Ala7Gly) c.335C>G (p.Ala112Gly) c.203C>G (p.Ala68Gly) c.280C>G (p.Pro94Ala) n.185C>G c.188C>G (p.Ala63Gly) | dbSNP |
15 | g.67165023C>T | CA020077 | SMAD3 | c.20C>T (p.Ala7Val) c.335C>T (p.Ala112Val) c.203C>T (p.Ala68Val) c.280C>T (p.Pro94Ser) n.185C>T c.188C>T (p.Ala63Val) | ClinVar dbSNP COSMIC COSMIC |
15 | g.67165024C>A | CA392954062 | SMAD3 | c.21C>A (p.Ala7=) c.336C>A (p.Ala112=) c.204C>A (p.Ala68=) c.281C>A (p.Pro94His) n.186C>A c.189C>A (p.Ala63=) | |
15 | g.67165024C>G | CA392954063 | SMAD3 | c.21C>G (p.Ala7=) c.336C>G (p.Ala112=) c.204C>G (p.Ala68=) c.281C>G (p.Pro94Arg) n.186C>G c.189C>G (p.Ala63=) | |
15 | g.67165024C>T | CA392954064 | SMAD3 | c.21C>T (p.Ala7=) c.336C>T (p.Ala112=) c.204C>T (p.Ala68=) c.281C>T (p.Pro94Leu) n.186C>T c.189C>T (p.Ala63=) | dbSNP |
15 | g.67165025T>A | CA392954065 | SMAD3 | c.22T>A (p.Phe8Ile) c.337T>A (p.Phe113Ile) c.205T>A (p.Phe69Ile) c.282T>A (p.Pro94=) n.187T>A c.190T>A (p.Phe64Ile) | |
15 | g.67165025T>C | CA392954066 | SMAD3 | c.22T>C (p.Phe8Leu) c.337T>C (p.Phe113Leu) c.205T>C (p.Phe69Leu) c.282T>C (p.Pro94=) n.187T>C c.190T>C (p.Phe64Leu) | |
15 | g.67165025T>G | CA392954067 | SMAD3 | c.22T>G (p.Phe8Val) c.337T>G (p.Phe113Val) c.205T>G (p.Phe69Val) c.282T>G (p.Pro94=) n.187T>G c.190T>G (p.Phe64Val) | |
15 | g.67165026T>A | CA392954068 | SMAD3 | c.23T>A (p.Phe8Tyr) c.338T>A (p.Phe113Tyr) c.206T>A (p.Phe69Tyr) c.283T>A (p.Ser95Thr) n.188T>A c.191T>A (p.Phe64Tyr) | dbSNP |
15 | g.67165026T>C | CA392954069 | SMAD3 | c.23T>C (p.Phe8Ser) c.338T>C (p.Phe113Ser) c.206T>C (p.Phe69Ser) c.283T>C (p.Ser95Pro) n.188T>C c.191T>C (p.Phe64Ser) | |
15 | g.67165026T>G | CA392954070 | SMAD3 | c.23T>G (p.Phe8Cys) c.338T>G (p.Phe113Cys) c.206T>G (p.Phe69Cys) c.283T>G (p.Ser95Ala) n.188T>G c.191T>G (p.Phe64Cys) | |
15 | g.67165027C>A | CA392954071 | SMAD3 | c.24C>A (p.Phe8Leu) c.339C>A (p.Phe113Leu) c.207C>A (p.Phe69Leu) c.284C>A (p.Ser95Ter) n.189C>A c.192C>A (p.Phe64Leu) | |
15 | g.67165027C>G | CA392954072 | SMAD3 | c.24C>G (p.Phe8Leu) c.339C>G (p.Phe113Leu) c.207C>G (p.Phe69Leu) c.284C>G (p.Ser95Ter) n.189C>G c.192C>G (p.Phe64Leu) | |
15 | g.67165027C>T | CA392954073 | SMAD3 | c.24C>T (p.Phe8=) c.339C>T (p.Phe113=) c.207C>T (p.Phe69=) c.284C>T (p.Ser95Leu) n.189C>T c.192C>T (p.Phe64=) | gnomAD v4 |
15 | g.67165028A>C | CA392954076 | SMAD3 | c.25A>C (p.Asn9His) c.340A>C (p.Asn114His) c.208A>C (p.Asn70His) c.285A>C (p.Ser95=) n.190A>C c.193A>C (p.Asn65His) | |
15 | g.67165028A>G | CA392954075 | SMAD3 | c.25A>G (p.Asn9Asp) c.340A>G (p.Asn114Asp) c.208A>G (p.Asn70Asp) c.285A>G (p.Ser95=) n.190A>G c.193A>G (p.Asn65Asp) | ClinVar dbSNP gnomAD v4 |
15 | g.67165028A>T | CA392954074 | SMAD3 | c.25A>T (p.Asn9Tyr) c.340A>T (p.Asn114Tyr) c.208A>T (p.Asn70Tyr) c.285A>T (p.Ser95=) n.190A>T c.193A>T (p.Asn65Tyr) | |
15 | g.67165029A= | CA2184410375 | SMAD3 | c.26A= (p.Asn9=) c.341A= (p.Asn114=) c.209A= (p.Asn70=) c.286A= (p.Ile96=) n.191A= c.194A= (p.Asn65=) | |
15 | g.67165029A>C | CA392954078 | SMAD3 | c.26A>C (p.Asn9Thr) c.341A>C (p.Asn114Thr) c.209A>C (p.Asn70Thr) c.286A>C (p.Ile96Leu) n.191A>C c.194A>C (p.Asn65Thr) | |
15 | g.67165029A>G | CA062138 | SMAD3 | c.26A>G (p.Asn9Ser) c.341A>G (p.Asn114Ser) c.209A>G (p.Asn70Ser) c.286A>G (p.Ile96Val) n.191A>G c.194A>G (p.Asn65Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.67165029A>T | CA392954077 | SMAD3 | c.26A>T (p.Asn9Ile) c.341A>T (p.Asn114Ile) c.209A>T (p.Asn70Ile) c.286A>T (p.Ile96Leu) n.191A>T c.194A>T (p.Asn65Ile) | |
15 | g.67165030T>A | CA392954079 | SMAD3 | c.27T>A (p.Asn9Lys) c.342T>A (p.Asn114Lys) c.210T>A (p.Asn70Lys) c.287T>A (p.Ile96Lys) n.192T>A c.195T>A (p.Asn65Lys) | |
15 | g.67165030T>C | CA062142 | SMAD3 | c.27T>C (p.Asn9=) c.342T>C (p.Asn114=) c.210T>C (p.Asn70=) c.287T>C (p.Ile96Thr) n.192T>C c.195T>C (p.Asn65=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.67165030T>G | CA392954080 | SMAD3 | c.27T>G (p.Asn9Lys) c.342T>G (p.Asn114Lys) c.210T>G (p.Asn70Lys) c.287T>G (p.Ile96Arg) n.192T>G c.195T>G (p.Asn65Lys) | |
15 | g.67165030T= | CA2184410376 | SMAD3 | c.27T= (p.Asn9=) c.342T= (p.Asn114=) c.210T= (p.Asn70=) c.287T= (p.Ile96=) n.192T= c.195T= (p.Asn65=) | |
15 | g.67165031A>C | CA392954083 | SMAD3 | c.28A>C (p.Met10Leu) c.343A>C (p.Met115Leu) c.211A>C (p.Met71Leu) c.288A>C (p.Ile96=) n.193A>C c.196A>C (p.Met66Leu) | |
15 | g.67165031A>G | CA392954082 | SMAD3 | c.28A>G (p.Met10Val) c.343A>G (p.Met115Val) c.211A>G (p.Met71Val) c.288A>G (p.Ile96Met) n.193A>G c.196A>G (p.Met66Val) | ClinVar |
15 | g.67165031A>T | CA392954081 | SMAD3 | c.28A>T (p.Met10Leu) c.343A>T (p.Met115Leu) c.211A>T (p.Met71Leu) c.288A>T (p.Ile96=) n.193A>T c.196A>T (p.Met66Leu) | dbSNP |
15 | g.67165032T>A | CA392954084 | SMAD3 | c.29T>A (p.Met10Lys) c.344T>A (p.Met115Lys) c.212T>A (p.Met71Lys) c.289T>A (p.Ter97Arg) n.194T>A c.197T>A (p.Met66Lys) | |
15 | g.67165032T>C | CA062148 | SMAD3 | c.29T>C (p.Met10Thr) c.344T>C (p.Met115Thr) c.212T>C (p.Met71Thr) c.289T>C (p.Ter97Arg) n.194T>C c.197T>C (p.Met66Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.67165032T>G | CA392954085 | SMAD3 | c.29T>G (p.Met10Arg) c.344T>G (p.Met115Arg) c.212T>G (p.Met71Arg) c.289T>G (p.Ter97Gly) n.194T>G c.197T>G (p.Met66Arg) | |
15 | g.67165032T= | CA2184410377 | SMAD3 | c.29T= (p.Met10=) c.344T= (p.Met115=) c.212T= (p.Met71=) c.289T= (p.Ter97=) n.194T= c.197T= (p.Met66=) | |
15 | g.67165033G>A | CA392954086 | SMAD3 | c.30G>A (p.Met10Ile) c.345G>A (p.Met115Ile) c.213G>A (p.Met71Ile) c.290G>A (p.Ter97=) n.195G>A c.198G>A (p.Met66Ile) | ClinVar dbSNP COSMIC COSMIC |
15 | g.67165033G>C | CA392954087 | SMAD3 | c.30G>C (p.Met10Ile) c.345G>C (p.Met115Ile) c.213G>C (p.Met71Ile) c.290G>C (p.Ter97Ser) n.195G>C c.198G>C (p.Met66Ile) | |
15 | g.67165033G= | CA2184410378 | SMAD3 | c.30G= (p.Met10=) c.345G= (p.Met115=) c.213G= (p.Met71=) c.290G= (p.Ter97=) n.195G= c.198G= (p.Met66=) | |
15 | g.67165033G>T | CA392954088 | SMAD3 | c.30G>T (p.Met10Ile) c.345G>T (p.Met115Ile) c.213G>T (p.Met71Ile) c.290G>T (p.Ter97Leu) n.195G>T c.198G>T (p.Met66Ile) | |
15 | g.67165037_67165039del | CA491071609 | SMAD3 | c.34_36del (p.Lys12del) c.349_351del (p.Lys117del) c.217_219del (p.Lys73del) n.199_201del c.202_204del (p.Lys68del) | ClinVar dbSNP gnomAD v4 |
15 | g.67165034A>C | CA392954091 | SMAD3 | c.31A>C (p.Lys11Gln) c.346A>C (p.Lys116Gln) c.214A>C (p.Lys72Gln) c.291A>C (p.Ter97Cys) n.196A>C c.199A>C (p.Lys67Gln) | |
15 | g.67165034A>G | CA392954089 | SMAD3 | c.31A>G (p.Lys11Glu) c.346A>G (p.Lys116Glu) c.214A>G (p.Lys72Glu) c.291A>G (p.Ter97Trp) n.196A>G c.199A>G (p.Lys67Glu) | |
15 | g.67165034A>T | CA392954090 | SMAD3 | c.31A>T (p.Lys11Ter) c.346A>T (p.Lys116Ter) c.214A>T (p.Lys72Ter) c.291A>T (p.Ter97Cys) n.196A>T c.199A>T (p.Lys67Ter) | |
15 | g.67165035dup | CA645572330 | SMAD3 | c.32dup (p.Lys12GlufsTer?) c.347dup (p.Lys117GlufsTer?) c.215dup (p.Lys73GlufsTer?) n.197dup c.347dup (p.Lys117GlufsTer27) c.200dup (p.Lys68GlufsTer?) | COSMIC COSMIC |
15 | g.67165035A>C | CA392954092 | SMAD3 | c.32A>C (p.Lys11Thr) c.347A>C (p.Lys116Thr) c.215A>C (p.Lys72Thr) c.*1A>C (n.*1A>C) n.197A>C c.200A>C (p.Lys67Thr) | |
15 | g.67165035A>G | CA392954093 | SMAD3 | c.32A>G (p.Lys11Arg) c.347A>G (p.Lys116Arg) c.215A>G (p.Lys72Arg) c.*1A>G (n.*1A>G) n.197A>G c.200A>G (p.Lys67Arg) | |
15 | g.67165035A>T | CA392954094 | SMAD3 | c.32A>T (p.Lys11Met) c.347A>T (p.Lys116Met) c.215A>T (p.Lys72Met) c.*1A>T (n.*1A>T) n.197A>T c.200A>T (p.Lys67Met) | |
15 | g.67165036G>A | CA491071610 | SMAD3 | c.33G>A (p.Lys11=) c.348G>A (p.Lys116=) c.216G>A (p.Lys72=) n.198G>A c.201G>A (p.Lys67=) | ClinVar gnomAD v4 |
15 | g.67165036G>C | CA392954095 | SMAD3 | c.33G>C (p.Lys11Asn) c.348G>C (p.Lys116Asn) c.216G>C (p.Lys72Asn) n.198G>C c.201G>C (p.Lys67Asn) | |
15 | g.67165036G>T | CA392954096 | SMAD3 | c.33G>T (p.Lys11Asn) c.348G>T (p.Lys116Asn) c.216G>T (p.Lys72Asn) n.198G>T c.201G>T (p.Lys67Asn) | |
15 | g.67165037A>C | CA392954097 | SMAD3 | c.34A>C (p.Lys12Gln) c.349A>C (p.Lys117Gln) c.217A>C (p.Lys73Gln) n.199A>C c.202A>C (p.Lys68Gln) | |
15 | g.67165037A>G | CA392954098 | SMAD3 | c.34A>G (p.Lys12Glu) c.349A>G (p.Lys117Glu) c.217A>G (p.Lys73Glu) n.199A>G c.202A>G (p.Lys68Glu) | |
15 | g.67165037A>T | CA392954099 | SMAD3 | c.34A>T (p.Lys12Ter) c.349A>T (p.Lys117Ter) c.217A>T (p.Lys73Ter) n.199A>T c.202A>T (p.Lys68Ter) | |
15 | g.67165038dup | CA2843204193 | SMAD3 | c.35dup (p.Asp13GlyfsTer?) c.350dup (p.Asp118GlyfsTer?) c.218dup (p.Asp74GlyfsTer?) n.200dup c.350dup (p.Asp118GlyfsTer26) c.203dup (p.Asp69GlyfsTer?) | |
15 | g.67165038A>C | CA392954100 | SMAD3 | c.35A>C (p.Lys12Thr) c.350A>C (p.Lys117Thr) c.218A>C (p.Lys73Thr) n.200A>C c.203A>C (p.Lys68Thr) | |
15 | g.67165038A>G | CA392954101 | SMAD3 | c.35A>G (p.Lys12Arg) c.350A>G (p.Lys117Arg) c.218A>G (p.Lys73Arg) n.200A>G c.203A>G (p.Lys68Arg) | |
15 | g.67165038A>T | CA392954102 | SMAD3 | c.35A>T (p.Lys12Met) c.350A>T (p.Lys117Met) c.218A>T (p.Lys73Met) n.200A>T c.203A>T (p.Lys68Met) | |
15 | g.67165039G>A | CA491071611 | SMAD3 | c.36G>A (p.Lys12=) c.351G>A (p.Lys117=) c.219G>A (p.Lys73=) n.201G>A c.204G>A (p.Lys68=) | dbSNP gnomAD v4 |
15 | g.67165039G>C | CA392954103 | SMAD3 | c.36G>C (p.Lys12Asn) c.351G>C (p.Lys117Asn) c.219G>C (p.Lys73Asn) n.201G>C c.204G>C (p.Lys68Asn) | gnomAD v4 |
15 | g.67165039G>T | CA392954104 | SMAD3 | c.36G>T (p.Lys12Asn) c.351G>T (p.Lys117Asn) c.219G>T (p.Lys73Asn) n.201G>T c.204G>T (p.Lys68Asn) | |
15 | g.67165040G>A | CA392954107 | SMAD3 | c.37G>A (p.Asp13Asn) c.352G>A (p.Asp118Asn) c.220G>A (p.Asp74Asn) n.202G>A c.205G>A (p.Asp69Asn) | |
15 | g.67165040G>C | CA392954105 | SMAD3 | c.37G>C (p.Asp13His) c.352G>C (p.Asp118His) c.220G>C (p.Asp74His) n.202G>C c.205G>C (p.Asp69His) | |
15 | g.67165040G>T | CA392954106 | SMAD3 | c.37G>T (p.Asp13Tyr) c.352G>T (p.Asp118Tyr) c.220G>T (p.Asp74Tyr) n.202G>T c.205G>T (p.Asp69Tyr) | |
15 | g.67165041A>C | CA392954108 | SMAD3 | c.38A>C (p.Asp13Ala) c.353A>C (p.Asp118Ala) c.221A>C (p.Asp74Ala) n.203A>C c.206A>C (p.Asp69Ala) | |
15 | g.67165041A>G | CA392954109 | SMAD3 | c.38A>G (p.Asp13Gly) c.353A>G (p.Asp118Gly) c.221A>G (p.Asp74Gly) n.203A>G c.206A>G (p.Asp69Gly) | |
15 | g.67165041A>T | CA392954110 | SMAD3 | c.38A>T (p.Asp13Val) c.353A>T (p.Asp118Val) c.221A>T (p.Asp74Val) n.203A>T c.206A>T (p.Asp69Val) | |
15 | g.67165042C>A | CA392954111 | SMAD3 | c.39C>A (p.Asp13Glu) c.354C>A (p.Asp118Glu) c.222C>A (p.Asp74Glu) n.204C>A c.207C>A (p.Asp69Glu) | |
15 | g.67165042C= | CA2184410379 | SMAD3 | c.39C= (p.Asp13=) c.354C= (p.Asp118=) c.222C= (p.Asp74=) n.204C= c.207C= (p.Asp69=) | |
15 | g.67165042C>G | CA392954112 | SMAD3 | c.39C>G (p.Asp13Glu) c.354C>G (p.Asp118Glu) c.222C>G (p.Asp74Glu) n.204C>G c.207C>G (p.Asp69Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.67165042C>T | CA062149 | SMAD3 | c.39C>T (p.Asp13=) c.354C>T (p.Asp118=) c.222C>T (p.Asp74=) n.204C>T c.207C>T (p.Asp69=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.67165043G>A | CA392954115 | SMAD3 | c.40G>A (p.Glu14Lys) c.355G>A (p.Glu119Lys) c.223G>A (p.Glu75Lys) n.205G>A c.208G>A (p.Glu70Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.67165043G>C | CA392954113 | SMAD3 | c.40G>C (p.Glu14Gln) c.355G>C (p.Glu119Gln) c.223G>C (p.Glu75Gln) n.205G>C c.208G>C (p.Glu70Gln) | |
15 | g.67165043G= | CA2184410380 | SMAD3 | c.40G= (p.Glu14=) c.355G= (p.Glu119=) c.223G= (p.Glu75=) n.205G= c.208G= (p.Glu70=) | |
15 | g.67165043G>T | CA392954114 | SMAD3 | c.40G>T (p.Glu14Ter) c.355G>T (p.Glu119Ter) c.223G>T (p.Glu75Ter) n.205G>T c.208G>T (p.Glu70Ter) | |
15 | g.67165044A>C | CA392954116 | SMAD3 | c.41A>C (p.Glu14Ala) c.356A>C (p.Glu119Ala) c.224A>C (p.Glu75Ala) n.206A>C c.209A>C (p.Glu70Ala) | |
15 | g.67165044A>G | CA392954117 | SMAD3 | c.41A>G (p.Glu14Gly) c.356A>G (p.Glu119Gly) c.224A>G (p.Glu75Gly) n.206A>G c.209A>G (p.Glu70Gly) | gnomAD v4 |
15 | g.67165044A>T | CA392954118 | SMAD3 | c.41A>T (p.Glu14Val) c.356A>T (p.Glu119Val) c.224A>T (p.Glu75Val) n.206A>T c.209A>T (p.Glu70Val) | |
15 | g.67165045G>A | CA491071613 | SMAD3 | c.42G>A (p.Glu14=) c.357G>A (p.Glu119=) c.225G>A (p.Glu75=) n.207G>A c.210G>A (p.Glu70=) | |
15 | g.67165045G>C | CA392954119 | SMAD3 | c.42G>C (p.Glu14Asp) c.357G>C (p.Glu119Asp) c.225G>C (p.Glu75Asp) n.207G>C c.210G>C (p.Glu70Asp) | gnomAD v4 |
15 | g.67165045G>T | CA392954120 | SMAD3 | c.42G>T (p.Glu14Asp) c.357G>T (p.Glu119Asp) c.225G>T (p.Glu75Asp) n.207G>T c.210G>T (p.Glu70Asp) | |
15 | g.67165046G>A | CA392954123 | SMAD3 | c.43G>A (p.Val15Ile) c.358G>A (p.Val120Ile) c.226G>A (p.Val76Ile) n.208G>A c.211G>A (p.Val71Ile) | |
15 | g.67165046G>C | CA392954121 | SMAD3 | c.43G>C (p.Val15Leu) c.358G>C (p.Val120Leu) c.226G>C (p.Val76Leu) n.208G>C c.211G>C (p.Val71Leu) | |
15 | g.67165046G>T | CA392954122 | SMAD3 | c.43G>T (p.Val15Phe) c.358G>T (p.Val120Phe) c.226G>T (p.Val76Phe) n.208G>T c.211G>T (p.Val71Phe) | ClinVar |
15 | g.67165047T>A | CA392954124 | SMAD3 | c.44T>A (p.Val15Asp) c.359T>A (p.Val120Asp) c.227T>A (p.Val76Asp) n.209T>A c.212T>A (p.Val71Asp) | ClinVar dbSNP |
15 | g.67165047T>C | CA392954125 | SMAD3 | c.44T>C (p.Val15Ala) c.359T>C (p.Val120Ala) c.227T>C (p.Val76Ala) n.209T>C c.212T>C (p.Val71Ala) | COSMIC COSMIC |
15 | g.67165047T>G | CA392954126 | SMAD3 | c.44T>G (p.Val15Gly) c.359T>G (p.Val120Gly) c.227T>G (p.Val76Gly) n.209T>G c.212T>G (p.Val71Gly) | ClinVar dbSNP |
15 | g.67165047T= | CA2184410381 | SMAD3 | c.44T= (p.Val15=) c.359T= (p.Val120=) c.227T= (p.Val76=) n.209T= c.212T= (p.Val71=) | |
15 | g.67165048C>A | CA491071614 | SMAD3 | c.45C>A (p.Val15=) c.360C>A (p.Val120=) c.228C>A (p.Val76=) n.210C>A c.213C>A (p.Val71=) | |
15 | g.67165048C>G | CA491071615 | SMAD3 | c.45C>G (p.Val15=) c.360C>G (p.Val120=) c.228C>G (p.Val76=) n.210C>G c.213C>G (p.Val71=) | |
15 | g.67165048C>T | CA491071616 | SMAD3 | c.45C>T (p.Val15=) c.360C>T (p.Val120=) c.228C>T (p.Val76=) n.210C>T c.213C>T (p.Val71=) | |
15 | g.67165049T>A | CA392954127 | SMAD3 | c.46T>A (p.Cys16Ser) c.361T>A (p.Cys121Ser) c.229T>A (p.Cys77Ser) n.211T>A c.214T>A (p.Cys72Ser) | |
15 | g.67165049T>C | CA392954128 | SMAD3 | c.46T>C (p.Cys16Arg) c.361T>C (p.Cys121Arg) c.229T>C (p.Cys77Arg) n.211T>C c.214T>C (p.Cys72Arg) | |
15 | g.67165049T>G | CA392954129 | SMAD3 | c.46T>G (p.Cys16Gly) c.361T>G (p.Cys121Gly) c.229T>G (p.Cys77Gly) n.211T>G c.214T>G (p.Cys72Gly) | |
15 | g.67165050G>A | CA392954130 | SMAD3 | c.47G>A (p.Cys16Tyr) c.362G>A (p.Cys121Tyr) c.230G>A (p.Cys77Tyr) n.212G>A c.215G>A (p.Cys72Tyr) | |
15 | g.67165050G>C | CA392954131 | SMAD3 | c.47G>C (p.Cys16Ser) c.362G>C (p.Cys121Ser) c.230G>C (p.Cys77Ser) n.212G>C c.215G>C (p.Cys72Ser) | |
15 | g.67165050G>T | CA392954132 | SMAD3 | c.47G>T (p.Cys16Phe) c.362G>T (p.Cys121Phe) c.230G>T (p.Cys77Phe) n.212G>T c.215G>T (p.Cys72Phe) | |
15 | g.67165051C>A | CA392954133 | SMAD3 | c.48C>A (p.Cys16Ter) c.363C>A (p.Cys121Ter) c.231C>A (p.Cys77Ter) n.213C>A c.216C>A (p.Cys72Ter) | ClinVar |
15 | g.67165051C= | CA2184410382 | SMAD3 | c.48C= (p.Cys16=) c.363C= (p.Cys121=) c.231C= (p.Cys77=) n.213C= c.216C= (p.Cys72=) | |
15 | g.67165051C>G | CA392954134 | SMAD3 | c.48C>G (p.Cys16Trp) c.363C>G (p.Cys121Trp) c.231C>G (p.Cys77Trp) n.213C>G c.216C>G (p.Cys72Trp) | |
15 | g.67165051C>T | CA062154 | SMAD3 | c.48C>T (p.Cys16=) c.363C>T (p.Cys121=) c.231C>T (p.Cys77=) n.213C>T c.216C>T (p.Cys72=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.67165052G>A | CA020081 | SMAD3 | c.49G>A (p.Val17Met) c.364G>A (p.Val122Met) c.232G>A (p.Val78Met) n.214G>A c.217G>A (p.Val73Met) | ClinVar dbSNP |
15 | g.67165052G>C | CA392954136 | SMAD3 | c.49G>C (p.Val17Leu) c.364G>C (p.Val122Leu) c.232G>C (p.Val78Leu) n.214G>C c.217G>C (p.Val73Leu) | gnomAD v4 |
15 | g.67165052G= | CA2184410383 | SMAD3 | c.49G= (p.Val17=) c.364G= (p.Val122=) c.232G= (p.Val78=) n.214G= c.217G= (p.Val73=) | |
15 | g.67165052G>T | CA392954135 | SMAD3 | c.49G>T (p.Val17Leu) c.364G>T (p.Val122Leu) c.232G>T (p.Val78Leu) n.214G>T c.217G>T (p.Val73Leu) | ClinVar gnomAD v4 |
15 | g.67165053T>A | CA392954137 | SMAD3 | c.50T>A (p.Val17Glu) c.365T>A (p.Val122Glu) c.233T>A (p.Val78Glu) n.215T>A c.218T>A (p.Val73Glu) | |
15 | g.67165053T>C | CA392954139 | SMAD3 | c.50T>C (p.Val17Ala) c.365T>C (p.Val122Ala) c.233T>C (p.Val78Ala) n.215T>C c.218T>C (p.Val73Ala) | |
15 | g.67165053T>G | CA392954138 | SMAD3 | c.50T>G (p.Val17Gly) c.365T>G (p.Val122Gly) c.233T>G (p.Val78Gly) n.215T>G c.218T>G (p.Val73Gly) | |
15 | g.67165054G>A | CA491071619 | SMAD3 | c.51G>A (p.Val17=) c.366G>A (p.Val122=) c.234G>A (p.Val78=) n.216G>A c.219G>A (p.Val73=) | dbSNP |
15 | g.67165054G>C | CA491071618 | SMAD3 | c.51G>C (p.Val17=) c.366G>C (p.Val122=) c.234G>C (p.Val78=) n.216G>C c.219G>C (p.Val73=) | |
15 | g.67165054G>T | CA491071617 | SMAD3 | c.51G>T (p.Val17=) c.366G>T (p.Val122=) c.234G>T (p.Val78=) n.216G>T c.219G>T (p.Val73=) | |
15 | g.67165054_67165066dup | CA2695220920 | SMAD3 | c.51_63dup (p.Tyr22GlufsTer?) c.366_378dup (p.Tyr127GlufsTer?) c.234_246dup (p.Tyr83GlufsTer?) n.216_228dup c.366_378dup (p.Tyr127GlufsTer21) c.219_231dup (p.Tyr78GlufsTer?) | |
15 | g.67165055A>C | CA392954140 | SMAD3 | c.52A>C (p.Asn18His) c.367A>C (p.Asn123His) c.235A>C (p.Asn79His) n.217A>C c.220A>C (p.Asn74His) | |
15 | g.67165055A>G | CA392954141 | SMAD3 | c.52A>G (p.Asn18Asp) c.367A>G (p.Asn123Asp) c.235A>G (p.Asn79Asp) n.217A>G c.220A>G (p.Asn74Asp) | |
15 | g.67165055A>T | CA392954142 | SMAD3 | c.52A>T (p.Asn18Tyr) c.367A>T (p.Asn123Tyr) c.235A>T (p.Asn79Tyr) n.217A>T c.220A>T (p.Asn74Tyr) | |
15 | g.67165056A>C | CA392954143 | SMAD3 | c.53A>C (p.Asn18Thr) c.368A>C (p.Asn123Thr) c.236A>C (p.Asn79Thr) n.218A>C c.221A>C (p.Asn74Thr) | |
15 | g.67165056A>G | CA392954144 | SMAD3 | c.53A>G (p.Asn18Ser) c.368A>G (p.Asn123Ser) c.236A>G (p.Asn79Ser) n.218A>G c.221A>G (p.Asn74Ser) | |
15 | g.67165056A>T | CA392954145 | SMAD3 | c.53A>T (p.Asn18Ile) c.368A>T (p.Asn123Ile) c.236A>T (p.Asn79Ile) n.218A>T c.221A>T (p.Asn74Ile) | |
15 | g.67165057T>A | CA392954146 | SMAD3 | c.54T>A (p.Asn18Lys) c.369T>A (p.Asn123Lys) c.237T>A (p.Asn79Lys) n.219T>A c.222T>A (p.Asn74Lys) | |
15 | g.67165057T>C | CA491071620 | SMAD3 | c.54T>C (p.Asn18=) c.369T>C (p.Asn123=) c.237T>C (p.Asn79=) n.219T>C c.222T>C (p.Asn74=) | dbSNP |
15 | g.67165057T>G | CA392954147 | SMAD3 | c.54T>G (p.Asn18Lys) c.369T>G (p.Asn123Lys) c.237T>G (p.Asn79Lys) n.219T>G c.222T>G (p.Asn74Lys) | |
15 | g.67165057T= | CA2184410384 | SMAD3 | c.54T= (p.Asn18=) c.369T= (p.Asn123=) c.237T= (p.Asn79=) n.219T= c.222T= (p.Asn74=) | |
15 | g.67165057dup | CA2695220921 | SMAD3 | c.54dup (p.Pro19SerfsTer?) c.369dup (p.Pro124SerfsTer?) c.237dup (p.Pro80SerfsTer?) n.219dup c.369dup (p.Pro124SerfsTer20) c.222dup (p.Pro75SerfsTer?) | |
15 | g.67165058C>A | CA392954148 | SMAD3 | c.55C>A (p.Pro19Thr) c.370C>A (p.Pro124Thr) c.238C>A (p.Pro80Thr) n.220C>A c.223C>A (p.Pro75Thr) | |
15 | g.67165058C>G | CA392954149 | SMAD3 | c.55C>G (p.Pro19Ala) c.370C>G (p.Pro124Ala) c.238C>G (p.Pro80Ala) n.220C>G c.223C>G (p.Pro75Ala) | |
15 | g.67165058C>T | CA392954150 | SMAD3 | c.55C>T (p.Pro19Ser) c.370C>T (p.Pro124Ser) c.238C>T (p.Pro80Ser) n.220C>T c.223C>T (p.Pro75Ser) | |
15 | g.67165059C>A | CA392954152 | SMAD3 | c.56C>A (p.Pro19His) c.371C>A (p.Pro124His) c.239C>A (p.Pro80His) n.221C>A c.224C>A (p.Pro75His) | |
15 | g.67165059C= | CA2184410385 | SMAD3 | c.56C= (p.Pro19=) c.371C= (p.Pro124=) c.239C= (p.Pro80=) n.221C= c.224C= (p.Pro75=) | |
15 | g.67165059C>G | CA392954151 | SMAD3 | c.56C>G (p.Pro19Arg) c.371C>G (p.Pro124Arg) c.239C>G (p.Pro80Arg) n.221C>G c.224C>G (p.Pro75Arg) | |
15 | g.67165059C>T | CA10587875 | SMAD3 | c.56C>T (p.Pro19Leu) c.371C>T (p.Pro124Leu) c.239C>T (p.Pro80Leu) n.221C>T c.224C>T (p.Pro75Leu) | ClinVar dbSNP COSMIC COSMIC |
15 | g.67165060C>A | CA062162 | SMAD3 | c.57C>A (p.Pro19=) c.372C>A (p.Pro124=) c.240C>A (p.Pro80=) n.222C>A c.225C>A (p.Pro75=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
15 | g.67165060C= | CA2184410386 | SMAD3 | c.57C= (p.Pro19=) c.372C= (p.Pro124=) c.240C= (p.Pro80=) n.222C= c.225C= (p.Pro75=) | |
15 | g.67165060C>G | CA491071621 | SMAD3 | c.57C>G (p.Pro19=) c.372C>G (p.Pro124=) c.240C>G (p.Pro80=) n.222C>G c.225C>G (p.Pro75=) | gnomAD v4 |
15 | g.67165060C>T | CA491071622 | SMAD3 | c.57C>T (p.Pro19=) c.372C>T (p.Pro124=) c.240C>T (p.Pro80=) n.222C>T c.225C>T (p.Pro75=) | gnomAD v4 |
15 | g.67165061T>A | CA392954153 | SMAD3 | c.58T>A (p.Tyr20Asn) c.373T>A (p.Tyr125Asn) c.241T>A (p.Tyr81Asn) n.223T>A c.226T>A (p.Tyr76Asn) | |
15 | g.67165061T>C | CA392954154 | SMAD3 | c.58T>C (p.Tyr20His) c.373T>C (p.Tyr125His) c.241T>C (p.Tyr81His) n.223T>C c.226T>C (p.Tyr76His) | |
15 | g.67165061T>G | CA392954155 | SMAD3 | c.58T>G (p.Tyr20Asp) c.373T>G (p.Tyr125Asp) c.241T>G (p.Tyr81Asp) n.223T>G c.226T>G (p.Tyr76Asp) | |
15 | g.67165062A>C | CA392954156 | SMAD3 | c.59A>C (p.Tyr20Ser) c.374A>C (p.Tyr125Ser) c.242A>C (p.Tyr81Ser) n.224A>C c.227A>C (p.Tyr76Ser) | |
15 | g.67165062A>G | CA392954157 | SMAD3 | c.59A>G (p.Tyr20Cys) c.374A>G (p.Tyr125Cys) c.242A>G (p.Tyr81Cys) n.224A>G c.227A>G (p.Tyr76Cys) | |
15 | g.67165062A>T | CA392954158 | SMAD3 | c.59A>T (p.Tyr20Phe) c.374A>T (p.Tyr125Phe) c.242A>T (p.Tyr81Phe) n.224A>T c.227A>T (p.Tyr76Phe) | |
15 | g.67165063C>A | CA392954159 | SMAD3 | c.60C>A (p.Tyr20Ter) c.375C>A (p.Tyr125Ter) c.243C>A (p.Tyr81Ter) n.225C>A c.228C>A (p.Tyr76Ter) | |
15 | g.67165063C= | CA2184410387 | SMAD3 | c.60C= (p.Tyr20=) c.375C= (p.Tyr125=) c.243C= (p.Tyr81=) n.225C= c.228C= (p.Tyr76=) | |
15 | g.67165063C>G | CA392954160 | SMAD3 | c.60C>G (p.Tyr20Ter) c.375C>G (p.Tyr125Ter) c.243C>G (p.Tyr81Ter) n.225C>G c.228C>G (p.Tyr76Ter) | |
15 | g.67165063C>T | CA491071623 | SMAD3 | c.60C>T (p.Tyr20=) c.375C>T (p.Tyr125=) c.243C>T (p.Tyr81=) n.225C>T c.228C>T (p.Tyr76=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.67165064C>A | CA392954161 | SMAD3 | c.61C>A (p.His21Asn) c.376C>A (p.His126Asn) c.244C>A (p.His82Asn) n.226C>A c.229C>A (p.His77Asn) | ClinVar dbSNP |
15 | g.67165064C= | CA2184410388 | SMAD3 | c.61C= (p.His21=) c.376C= (p.His126=) c.244C= (p.His82=) n.226C= c.229C= (p.His77=) | |
15 | g.67165064C>G | CA392954162 | SMAD3 | c.61C>G (p.His21Asp) c.376C>G (p.His126Asp) c.244C>G (p.His82Asp) n.226C>G c.229C>G (p.His77Asp) | |
15 | g.67165064C>T | CA10587872 | SMAD3 | c.61C>T (p.His21Tyr) c.376C>T (p.His126Tyr) c.244C>T (p.His82Tyr) n.226C>T c.229C>T (p.His77Tyr) | ClinVar dbSNP |
15 | g.67165064_67165067dup | CA2629117466 | SMAD3 | c.61_64dup (p.Tyr22SerfsTer?) c.376_379dup (p.Tyr127SerfsTer?) c.244_247dup (p.Tyr83SerfsTer?) n.226_229dup c.376_379dup (p.Tyr127SerfsTer18) c.229_232dup (p.Tyr78SerfsTer?) | gnomAD v4 |
15 | g.67165065A= | CA2184410389 | SMAD3 | c.62A= (p.His21=) c.377A= (p.His126=) c.245A= (p.His82=) n.227A= c.230A= (p.His77=) | |
15 | g.67165065A>C | CA392954164 | SMAD3 | c.62A>C (p.His21Pro) c.377A>C (p.His126Pro) c.245A>C (p.His82Pro) n.227A>C c.230A>C (p.His77Pro) | |
15 | g.67165065A>G | CA324009 | SMAD3 | c.62A>G (p.His21Arg) c.377A>G (p.His126Arg) c.245A>G (p.His82Arg) n.227A>G c.230A>G (p.His77Arg) | ClinVar dbSNP COSMIC |
15 | g.67165065A>T | CA392954163 | SMAD3 | c.62A>T (p.His21Leu) c.377A>T (p.His126Leu) c.245A>T (p.His82Leu) n.227A>T c.230A>T (p.His77Leu) | |
15 | g.67165066C>A | CA392954165 | SMAD3 | c.63C>A (p.His21Gln) c.378C>A (p.His126Gln) c.246C>A (p.His82Gln) n.228C>A c.231C>A (p.His77Gln) | |
15 | g.67165066C>G | CA392954166 | SMAD3 | c.63C>G (p.His21Gln) c.378C>G (p.His126Gln) c.246C>G (p.His82Gln) n.228C>G c.231C>G (p.His77Gln) | |
15 | g.67165066C>T | CA491071624 | SMAD3 | c.63C>T (p.His21=) c.378C>T (p.His126=) c.246C>T (p.His82=) n.228C>T c.231C>T (p.His77=) | dbSNP |
15 | g.67165066_67165067delinsCT | CA2184410390 | SMAD3 | c.63_64delinsCT (p.His21=) c.378_379delinsCT (p.His126=) c.246_247delinsCT (p.His82=) n.228_229delinsCT c.231_232delinsCT (p.His77=) | |
15 | g.67165067del | CA062166 | SMAD3 | c.64del (p.Tyr22ThrfsTer4) c.379del (p.Tyr127ThrfsTer4) c.247del (p.Tyr83ThrfsTer4) n.229del c.232del (p.Tyr78ThrfsTer4) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.67165067T>A | CA392954167 | SMAD3 | c.64T>A (p.Tyr22Asn) c.379T>A (p.Tyr127Asn) c.247T>A (p.Tyr83Asn) n.229T>A c.232T>A (p.Tyr78Asn) | ClinVar dbSNP gnomAD v4 |
15 | g.67165067T>C | CA392954168 | SMAD3 | c.64T>C (p.Tyr22His) c.379T>C (p.Tyr127His) c.247T>C (p.Tyr83His) n.229T>C c.232T>C (p.Tyr78His) | |
15 | g.67165067T>G | CA392954169 | SMAD3 | c.64T>G (p.Tyr22Asp) c.379T>G (p.Tyr127Asp) c.247T>G (p.Tyr83Asp) n.229T>G c.232T>G (p.Tyr78Asp) | |
15 | g.67165067T= | CA2184410391 | SMAD3 | c.64T= (p.Tyr22=) c.379T= (p.Tyr127=) c.247T= (p.Tyr83=) n.229T= c.232T= (p.Tyr78=) | |
15 | g.67165068A>C | CA392954170 | SMAD3 | c.65A>C (p.Tyr22Ser) c.380A>C (p.Tyr127Ser) c.248A>C (p.Tyr83Ser) n.230A>C c.233A>C (p.Tyr78Ser) | |
15 | g.67165068A>G | CA392954171 | SMAD3 | c.65A>G (p.Tyr22Cys) c.380A>G (p.Tyr127Cys) c.248A>G (p.Tyr83Cys) n.230A>G c.233A>G (p.Tyr78Cys) | ClinVar |
15 | g.67165068A>T | CA392954172 | SMAD3 | c.65A>T (p.Tyr22Phe) c.380A>T (p.Tyr127Phe) c.248A>T (p.Tyr83Phe) n.230A>T c.233A>T (p.Tyr78Phe) |