Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.67164969_67164982dupCA715067682SMAD3c.-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
15g.67164976C>ACA392953932SMAD3c.-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)
15g.67164976C>GCA392953933SMAD3c.-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)
15g.67164976C>TCA392953934SMAD3c.-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=)
15g.67164977_67164980delCA645572329SMAD3c.-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
15g.67164977C>ACA392953935SMAD3c.-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
15g.67164977C>GCA392953936SMAD3c.-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)
15g.67164977C>TCA491071603SMAD3c.-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=)
15g.67164978T>ACA392953937SMAD3c.-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)
15g.67164978T>CCA392953938SMAD3c.-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
15g.67164978T>GCA392953939SMAD3c.-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
15g.67164978T=CA2184410344SMAD3c.-26T= (n.-26T=)
c.290T= (p.Leu97=)
c.158T= (p.Leu53=)
c.235T= (p.Cys79=)
n.140T=
c.143T= (p.Leu48=)
15g.67164979G>ACA392953940SMAD3c.-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
15g.67164979G>CCA392953941SMAD3c.-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=)
15g.67164979G=CA2184410345SMAD3c.-25G= (n.-25G=)
c.291G= (p.Leu97=)
c.159G= (p.Leu53=)
c.236G= (p.Cys79=)
n.141G=
c.144G= (p.Leu48=)
15g.67164979G>TCA392953942SMAD3c.-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=)
15g.67164980C>ACA392953945SMAD3c.-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
15g.67164980C=CA2184410346SMAD3c.-24C= (n.-24C=)
c.292C= (p.His98=)
c.160C= (p.His54=)
c.237C= (p.Cys79=)
n.142C=
c.145C= (p.His49=)
15g.67164980C>GCA392953944SMAD3c.-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)
15g.67164980C>TCA392953943SMAD3c.-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
15g.67164981A=CA2184410347SMAD3c.-23A= (n.-23A=)
c.293A= (p.His98=)
c.161A= (p.His54=)
c.238A= (p.Thr80=)
n.143A=
c.146A= (p.His49=)
15g.67164981A>CCA392953946SMAD3c.-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
15g.67164981A>GCA392953947SMAD3c.-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
15g.67164981A>TCA392953948SMAD3c.-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)
15g.67164982C>ACA392953949SMAD3c.-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)
15g.67164982C=CA2184410348SMAD3c.-22C= (n.-22C=)
c.294C= (p.His98=)
c.162C= (p.His54=)
c.239C= (p.Thr80=)
n.144C=
c.147C= (p.His49=)
15g.67164982C>GCA392953950SMAD3c.-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)
15g.67164982C>TCA062099SMAD3c.-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
15g.67164983A>CCA392953951SMAD3c.-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)
15g.67164983A>GCA392953952SMAD3c.-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
15g.67164983A>TCA392953953SMAD3c.-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)
15g.67164984G>ACA392953954SMAD3c.-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
15g.67164984G>CCA392953955SMAD3c.-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
15g.67164984G=CA2184410349SMAD3c.-20G= (n.-20G=)
c.296G= (p.Ser99=)
c.164G= (p.Ser55=)
c.241G= (p.Ala81=)
n.146G=
c.149G= (p.Ser50=)
15g.67164984G>TCA392953956SMAD3c.-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)
15g.67164985C>ACA392953957SMAD3c.-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)
15g.67164985C>GCA392953959SMAD3c.-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)
15g.67164985C>TCA392953958SMAD3c.-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
15g.67164989_67164991delCA2697549140SMAD3c.-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
15g.67164986C>ACA392953960SMAD3c.-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)
15g.67164986C>GCA392953962SMAD3c.-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)
15g.67164986C>TCA392953961SMAD3c.-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
15g.67164987A=CA2184410350SMAD3c.-17A= (n.-17A=)
c.299A= (p.His100=)
c.167A= (p.His56=)
c.244A= (p.Thr82=)
n.149A=
c.152A= (p.His51=)
15g.67164987A>CCA392953963SMAD3c.-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)
15g.67164987A>GCA392953965SMAD3c.-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
15g.67164987A>TCA392953964SMAD3c.-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)
15g.67164988C>ACA392953966SMAD3c.-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)
15g.67164988C>GCA392953967SMAD3c.-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)
15g.67164988C>TCA392953968SMAD3c.-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
15g.67164988_67164989insAGGGCCGGCAGGCCA658820888SMAD3c.-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)
15g.67164989C>ACA392953969SMAD3c.-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
15g.67164989C=CA2184410351SMAD3c.-15C= (n.-15C=)
c.301C= (p.His101=)
c.169C= (p.His57=)
c.246C= (p.Thr82=)
n.151C=
c.154C= (p.His52=)
15g.67164989C>GCA392953970SMAD3c.-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)
15g.67164989C>TCA392953971SMAD3c.-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)
15g.67164990A>CCA392953974SMAD3c.-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)
15g.67164990A>GCA392953973SMAD3c.-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
15g.67164990A>TCA392953972SMAD3c.-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
15g.67164991C>ACA392953975SMAD3c.-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)
15g.67164991C=CA2184410352SMAD3c.-13C= (n.-13C=)
c.303C= (p.His101=)
c.171C= (p.His57=)
c.248C= (p.Thr83=)
n.153C=
c.156C= (p.His52=)
15g.67164991C>GCA392953976SMAD3c.-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
15g.67164991C>TCA272378584SMAD3c.-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
15g.67164991_67164992insTCCA2825002293SMAD3c.-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
15g.67164992G>ACA392953977SMAD3c.-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
15g.67164992G>CCA392953978SMAD3c.-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)
15g.67164992G=CA2184410353SMAD3c.-12G= (n.-12G=)
c.304G= (p.Glu102=)
c.172G= (p.Glu58=)
c.249G= (p.Thr83=)
n.154G=
c.157G= (p.Glu53=)
15g.67164992G>TCA392953979SMAD3c.-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
15g.67164993A=CA2184410354SMAD3c.-11A= (n.-11A=)
c.305A= (p.Glu102=)
c.173A= (p.Glu58=)
c.250A= (p.Ser84=)
n.155A=
c.158A= (p.Glu53=)
15g.67164993A>CCA392953980SMAD3c.-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)
15g.67164993A>GCA392953982SMAD3c.-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)
15g.67164993A>TCA392953981SMAD3c.-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)
15g.67164994G>ACA392953983SMAD3c.-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
15g.67164994G>CCA392953984SMAD3c.-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)
15g.67164994G=CA2184410355SMAD3c.-10G= (n.-10G=)
c.306G= (p.Glu102=)
c.174G= (p.Glu58=)
c.251G= (p.Ser84=)
n.156G=
c.159G= (p.Glu53=)
15g.67164994G>TCA392953985SMAD3c.-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)
15g.67164994_67164996dupCA1139664043SMAD3c.-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
15g.67164995C>ACA392953986SMAD3c.-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)
15g.67164995C>GCA392953987SMAD3c.-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)
15g.67164995C>TCA491071605SMAD3c.-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=)
15g.67164996T>ACA392953988SMAD3c.-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)
15g.67164996T>CCA392953989SMAD3c.-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)
15g.67164996T>GCA392953990SMAD3c.-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)
15g.67164996_67164997delinsCGCA2573151067SMAD3c.-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
15g.67164997A=CA2184410356SMAD3c.-7A= (n.-7A=)
c.309A= (p.Leu103=)
c.177A= (p.Leu59=)
c.254A= (p.Tyr85=)
n.159A=
c.162A= (p.Leu54=)
15g.67164997A>CCA392953991SMAD3c.-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
15g.67164997A>GCA019603SMAD3c.-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
15g.67164997A>TCA16614882SMAD3c.-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
15g.67164997_67164998delinsGTCA1139664044SMAD3c.-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
15g.67164997_67164999delinsGCACA2573054095SMAD3c.-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
15g.67164998C>ACA392953992SMAD3c.-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=)
15g.67164998C=CA2184410358SMAD3c.-6C= (n.-6C=)
c.310C= (p.Arg104=)
c.178C= (p.Arg60=)
c.255C= (p.Tyr85=)
n.160C=
c.163C= (p.Arg55=)
15g.67164998C>GCA392953994SMAD3c.-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)
15g.67164998C>TCA392953993SMAD3c.-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
15g.67164998_67164999delinsCGCA2184410357SMAD3c.-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=)
15g.67164999G>ACA062114SMAD3c.-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
15g.67164999G>CCA392953995SMAD3c.-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)
15g.67164999G=CA2184410359SMAD3c.-5G= (n.-5G=)
c.311G= (p.Arg104=)
c.179G= (p.Arg60=)
c.256G= (p.Gly86=)
n.161G=
c.164G= (p.Arg55=)
15g.67164999G>TCA392953996SMAD3c.-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
15g.67165001delCA020072SMAD3c.-3del (n.-3del)
c.313del (p.Ala105ProfsTer11)
c.181del (p.Ala61ProfsTer11)
c.258del (p.Pro87HisfsTer5)
n.163del
c.166del (p.Ala56ProfsTer11)
 ClinVar dbSNP
15g.67165000G>ACA392953997SMAD3c.-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=)
15g.67165000G>CCA392953998SMAD3c.-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=)
15g.67165000G>TCA392953999SMAD3c.-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=)
15g.67165001G>ACA392954000SMAD3c.-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
15g.67165001G>CCA392954001SMAD3c.-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
15g.67165001G=CA2184410360SMAD3c.-3G= (n.-3G=)
c.313G= (p.Ala105=)
c.181G= (p.Ala61=)
c.258G= (p.Gly86=)
n.163G=
c.166G= (p.Ala56=)
15g.67165001G>TCA392954002SMAD3c.-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
15g.67165001_67165002delinsTTCA2580613860SMAD3c.-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
15g.67165002C>ACA392954003SMAD3c.-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)
15g.67165002C>GCA392954004SMAD3c.-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)
15g.67165002C>TCA392954005SMAD3c.-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
15g.67165003C>ACA392954006SMAD3c.-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=)
15g.67165003C>GCA392954008SMAD3c.-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=)
15g.67165003C>TCA392954007SMAD3c.-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=)
15g.67165004A=CA2184410361SMAD3c.1A= (p.Met1=)
c.316A= (p.Met106=)
c.184A= (p.Met62=)
c.261A= (p.Pro87=)
n.166A=
c.169A= (p.Met57=)
15g.67165004A>CCA392954009SMAD3c.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)
15g.67165004A>GCA062116SMAD3c.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
15g.67165004A>TCA392954010SMAD3c.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
15g.67165005T>ACA392954011SMAD3c.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)
15g.67165005T>CCA392954012SMAD3c.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
15g.67165005T>GCA392954013SMAD3c.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
15g.67165005T=CA2184410362SMAD3c.2T= (p.Met1=)
c.317T= (p.Met106=)
c.185T= (p.Met62=)
c.262T= (p.Trp88=)
n.167T=
c.170T= (p.Met57=)
15g.67165006G>ACA392954014SMAD3c.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)
15g.67165006G>CCA392954015SMAD3c.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)
15g.67165006G>TCA392954016SMAD3c.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)
15g.67165007G>ACA392954019SMAD3c.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)
15g.67165007G>CCA392954018SMAD3c.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)
15g.67165007G>TCA392954017SMAD3c.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
15g.67165008A>CCA392954020SMAD3c.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)
15g.67165008A>GCA392954021SMAD3c.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
15g.67165008A>TCA392954022SMAD3c.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
15g.67165009G>ACA392954023SMAD3c.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
15g.67165009G>CCA392954024SMAD3c.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)
15g.67165009G=CA2184410363SMAD3c.6G= (p.Glu2=)
c.321G= (p.Glu107=)
c.189G= (p.Glu63=)
c.266G= (p.Ser89=)
n.171G=
c.174G= (p.Glu58=)
15g.67165009G>TCA392954025SMAD3c.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
15g.67165010C>ACA392954027SMAD3c.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
15g.67165010C=CA2184410364SMAD3c.7C= (p.Leu3=)
c.322C= (p.Leu108=)
c.190C= (p.Leu64=)
c.267C= (p.Ser89=)
n.172C=
c.175C= (p.Leu59=)
15g.67165010C>GCA392954026SMAD3c.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)
15g.67165010C>TCA491071608SMAD3c.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
15g.67165010_67165012delinsCTGCA2184410365SMAD3c.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=)
15g.67165011T>ACA392954028SMAD3c.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)
15g.67165011T>CCA392954029SMAD3c.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)
15g.67165011T>GCA392954030SMAD3c.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
15g.67165011T=CA2184410366SMAD3c.8T= (p.Leu3=)
c.323T= (p.Leu108=)
c.191T= (p.Leu64=)
c.268T= (p.Cys90=)
n.173T=
c.176T= (p.Leu59=)
15g.67165015_67165016delCA618958998SMAD3c.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
15g.67165012G>ACA392954031SMAD3c.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=)
15g.67165012G>CCA392954032SMAD3c.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
15g.67165012G>TCA392954033SMAD3c.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=)
15g.67165013T>ACA392954036SMAD3c.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
15g.67165013T>CCA392954034SMAD3c.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
15g.67165013T>GCA392954035SMAD3c.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)
15g.67165013T=CA2184410367SMAD3c.10T= (p.Cys4=)
c.325T= (p.Cys109=)
c.193T= (p.Cys65=)
c.270T= (p.Cys90=)
n.175T=
c.178T= (p.Cys60=)
15g.67165014G>ACA10583258SMAD3c.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
15g.67165014G>CCA392954037SMAD3c.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)
15g.67165014G=CA2184410368SMAD3c.11G= (p.Cys4=)
c.326G= (p.Cys109=)
c.194G= (p.Cys65=)
c.271G= (p.Val91=)
n.176G=
c.179G= (p.Cys60=)
15g.67165014G>TCA392954038SMAD3c.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)
15g.67165015T>ACA392954039SMAD3c.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)
15g.67165015T>CCA392954040SMAD3c.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=)
15g.67165015T>GCA392954041SMAD3c.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)
15g.67165016G>ACA392954042SMAD3c.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)
15g.67165016G>CCA392954043SMAD3c.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)
15g.67165016G>TCA392954044SMAD3c.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)
15g.67165017A>CCA392954045SMAD3c.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)
15g.67165017A>GCA392954046SMAD3c.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)
15g.67165017A>TCA392954047SMAD3c.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)
15g.67165018G>ACA392954048SMAD3c.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
15g.67165018G>CCA392954050SMAD3c.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)
15g.67165018G=CA2184410369SMAD3c.15G= (p.Glu5=)
c.330G= (p.Glu110=)
c.198G= (p.Glu66=)
c.275G= (p.Ser92=)
n.180G=
c.183G= (p.Glu61=)
15g.67165018G>TCA392954049SMAD3c.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
15g.67165019T>ACA392954051SMAD3c.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)
15g.67165019T>CCA392954052SMAD3c.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
15g.67165019T>GCA392954053SMAD3c.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)
15g.67165019T=CA2184410370SMAD3c.16T= (p.Phe6=)
c.331T= (p.Phe111=)
c.199T= (p.Phe67=)
c.276T= (p.Ser92=)
n.181T=
c.184T= (p.Phe62=)
15g.67165020T>ACA392954054SMAD3c.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)
15g.67165020T>CCA392954055SMAD3c.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)
15g.67165020T>GCA392954056SMAD3c.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)
15g.67165021C>ACA392954057SMAD3c.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)
15g.67165021C=CA2184410371SMAD3c.18C= (p.Phe6=)
c.333C= (p.Phe111=)
c.201C= (p.Phe67=)
c.278C= (p.Ser93=)
n.183C=
c.186C= (p.Phe62=)
15g.67165021C>GCA392954058SMAD3c.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)
15g.67165021C>TCA062118SMAD3c.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
15g.67165022G>ACA062122SMAD3c.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
15g.67165022G>CCA392954059SMAD3c.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
15g.67165022G=CA2184410372SMAD3c.19G= (p.Ala7=)
c.334G= (p.Ala112=)
c.202G= (p.Ala68=)
c.279G= (p.Ser93=)
n.184G=
c.187G= (p.Ala63=)
15g.67165022G>TCA272378585SMAD3c.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
15g.67165022_67165023delinsCTCA915946051SMAD3c.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
15g.67165022_67165023delinsGCCA2184410373SMAD3c.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=)
15g.67165023C>ACA392954061SMAD3c.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
15g.67165023C=CA2184410374SMAD3c.20C= (p.Ala7=)
c.335C= (p.Ala112=)
c.203C= (p.Ala68=)
c.280C= (p.Pro94=)
n.185C=
c.188C= (p.Ala63=)
15g.67165023C>GCA392954060SMAD3c.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
15g.67165023C>TCA020077SMAD3c.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
15g.67165024C>ACA392954062SMAD3c.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=)
15g.67165024C>GCA392954063SMAD3c.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=)
15g.67165024C>TCA392954064SMAD3c.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
15g.67165025T>ACA392954065SMAD3c.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)
15g.67165025T>CCA392954066SMAD3c.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)
15g.67165025T>GCA392954067SMAD3c.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)
15g.67165026T>ACA392954068SMAD3c.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
15g.67165026T>CCA392954069SMAD3c.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)
15g.67165026T>GCA392954070SMAD3c.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)
15g.67165027C>ACA392954071SMAD3c.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)
15g.67165027C>GCA392954072SMAD3c.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)
15g.67165027C>TCA392954073SMAD3c.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
15g.67165028A>CCA392954076SMAD3c.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)
15g.67165028A>GCA392954075SMAD3c.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
15g.67165028A>TCA392954074SMAD3c.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)
15g.67165029A=CA2184410375SMAD3c.26A= (p.Asn9=)
c.341A= (p.Asn114=)
c.209A= (p.Asn70=)
c.286A= (p.Ile96=)
n.191A=
c.194A= (p.Asn65=)
15g.67165029A>CCA392954078SMAD3c.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)
15g.67165029A>GCA062138SMAD3c.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
15g.67165029A>TCA392954077SMAD3c.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)
15g.67165030T>ACA392954079SMAD3c.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)
15g.67165030T>CCA062142SMAD3c.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
15g.67165030T>GCA392954080SMAD3c.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)
15g.67165030T=CA2184410376SMAD3c.27T= (p.Asn9=)
c.342T= (p.Asn114=)
c.210T= (p.Asn70=)
c.287T= (p.Ile96=)
n.192T=
c.195T= (p.Asn65=)
15g.67165031A>CCA392954083SMAD3c.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)
15g.67165031A>GCA392954082SMAD3c.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
15g.67165031A>TCA392954081SMAD3c.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
15g.67165032T>ACA392954084SMAD3c.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)
15g.67165032T>CCA062148SMAD3c.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
15g.67165032T>GCA392954085SMAD3c.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)
15g.67165032T=CA2184410377SMAD3c.29T= (p.Met10=)
c.344T= (p.Met115=)
c.212T= (p.Met71=)
c.289T= (p.Ter97=)
n.194T=
c.197T= (p.Met66=)
15g.67165033G>ACA392954086SMAD3c.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
15g.67165033G>CCA392954087SMAD3c.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)
15g.67165033G=CA2184410378SMAD3c.30G= (p.Met10=)
c.345G= (p.Met115=)
c.213G= (p.Met71=)
c.290G= (p.Ter97=)
n.195G=
c.198G= (p.Met66=)
15g.67165033G>TCA392954088SMAD3c.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)
15g.67165037_67165039delCA491071609SMAD3c.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
15g.67165034A>CCA392954091SMAD3c.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)
15g.67165034A>GCA392954089SMAD3c.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)
15g.67165034A>TCA392954090SMAD3c.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)
15g.67165035dupCA645572330SMAD3c.32dup (p.Lys12GlufsTer?)
c.347dup (p.Lys117GlufsTer?)
c.215dup (p.Lys73GlufsTer?)
n.197dup
c.347dup (p.Lys117GlufsTer27)
c.200dup (p.Lys68GlufsTer?)
 COSMIC COSMIC
15g.67165035A>CCA392954092SMAD3c.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)
15g.67165035A>GCA392954093SMAD3c.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)
15g.67165035A>TCA392954094SMAD3c.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)
15g.67165036G>ACA491071610SMAD3c.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
15g.67165036G>CCA392954095SMAD3c.33G>C (p.Lys11Asn)
c.348G>C (p.Lys116Asn)
c.216G>C (p.Lys72Asn)
n.198G>C
c.201G>C (p.Lys67Asn)
15g.67165036G>TCA392954096SMAD3c.33G>T (p.Lys11Asn)
c.348G>T (p.Lys116Asn)
c.216G>T (p.Lys72Asn)
n.198G>T
c.201G>T (p.Lys67Asn)
15g.67165037A>CCA392954097SMAD3c.34A>C (p.Lys12Gln)
c.349A>C (p.Lys117Gln)
c.217A>C (p.Lys73Gln)
n.199A>C
c.202A>C (p.Lys68Gln)
15g.67165037A>GCA392954098SMAD3c.34A>G (p.Lys12Glu)
c.349A>G (p.Lys117Glu)
c.217A>G (p.Lys73Glu)
n.199A>G
c.202A>G (p.Lys68Glu)
15g.67165037A>TCA392954099SMAD3c.34A>T (p.Lys12Ter)
c.349A>T (p.Lys117Ter)
c.217A>T (p.Lys73Ter)
n.199A>T
c.202A>T (p.Lys68Ter)
15g.67165038A>CCA392954100SMAD3c.35A>C (p.Lys12Thr)
c.350A>C (p.Lys117Thr)
c.218A>C (p.Lys73Thr)
n.200A>C
c.203A>C (p.Lys68Thr)
15g.67165038A>GCA392954101SMAD3c.35A>G (p.Lys12Arg)
c.350A>G (p.Lys117Arg)
c.218A>G (p.Lys73Arg)
n.200A>G
c.203A>G (p.Lys68Arg)
15g.67165038A>TCA392954102SMAD3c.35A>T (p.Lys12Met)
c.350A>T (p.Lys117Met)
c.218A>T (p.Lys73Met)
n.200A>T
c.203A>T (p.Lys68Met)
15g.67165039G>ACA491071611SMAD3c.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
15g.67165039G>CCA392954103SMAD3c.36G>C (p.Lys12Asn)
c.351G>C (p.Lys117Asn)
c.219G>C (p.Lys73Asn)
n.201G>C
c.204G>C (p.Lys68Asn)
 gnomAD v4
15g.67165039G>TCA392954104SMAD3c.36G>T (p.Lys12Asn)
c.351G>T (p.Lys117Asn)
c.219G>T (p.Lys73Asn)
n.201G>T
c.204G>T (p.Lys68Asn)
15g.67165040G>ACA392954107SMAD3c.37G>A (p.Asp13Asn)
c.352G>A (p.Asp118Asn)
c.220G>A (p.Asp74Asn)
n.202G>A
c.205G>A (p.Asp69Asn)
15g.67165040G>CCA392954105SMAD3c.37G>C (p.Asp13His)
c.352G>C (p.Asp118His)
c.220G>C (p.Asp74His)
n.202G>C
c.205G>C (p.Asp69His)
15g.67165040G>TCA392954106SMAD3c.37G>T (p.Asp13Tyr)
c.352G>T (p.Asp118Tyr)
c.220G>T (p.Asp74Tyr)
n.202G>T
c.205G>T (p.Asp69Tyr)
15g.67165041A>CCA392954108SMAD3c.38A>C (p.Asp13Ala)
c.353A>C (p.Asp118Ala)
c.221A>C (p.Asp74Ala)
n.203A>C
c.206A>C (p.Asp69Ala)
15g.67165041A>GCA392954109SMAD3c.38A>G (p.Asp13Gly)
c.353A>G (p.Asp118Gly)
c.221A>G (p.Asp74Gly)
n.203A>G
c.206A>G (p.Asp69Gly)
15g.67165041A>TCA392954110SMAD3c.38A>T (p.Asp13Val)
c.353A>T (p.Asp118Val)
c.221A>T (p.Asp74Val)
n.203A>T
c.206A>T (p.Asp69Val)
15g.67165042C>ACA392954111SMAD3c.39C>A (p.Asp13Glu)
c.354C>A (p.Asp118Glu)
c.222C>A (p.Asp74Glu)
n.204C>A
c.207C>A (p.Asp69Glu)
15g.67165042C=CA2184410379SMAD3c.39C= (p.Asp13=)
c.354C= (p.Asp118=)
c.222C= (p.Asp74=)
n.204C=
c.207C= (p.Asp69=)
15g.67165042C>GCA392954112SMAD3c.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
15g.67165042C>TCA062149SMAD3c.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
15g.67165043G>ACA392954115SMAD3c.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
15g.67165043G>CCA392954113SMAD3c.40G>C (p.Glu14Gln)
c.355G>C (p.Glu119Gln)
c.223G>C (p.Glu75Gln)
n.205G>C
c.208G>C (p.Glu70Gln)
15g.67165043G=CA2184410380SMAD3c.40G= (p.Glu14=)
c.355G= (p.Glu119=)
c.223G= (p.Glu75=)
n.205G=
c.208G= (p.Glu70=)
15g.67165043G>TCA392954114SMAD3c.40G>T (p.Glu14Ter)
c.355G>T (p.Glu119Ter)
c.223G>T (p.Glu75Ter)
n.205G>T
c.208G>T (p.Glu70Ter)
15g.67165044A>CCA392954116SMAD3c.41A>C (p.Glu14Ala)
c.356A>C (p.Glu119Ala)
c.224A>C (p.Glu75Ala)
n.206A>C
c.209A>C (p.Glu70Ala)
15g.67165044A>GCA392954117SMAD3c.41A>G (p.Glu14Gly)
c.356A>G (p.Glu119Gly)
c.224A>G (p.Glu75Gly)
n.206A>G
c.209A>G (p.Glu70Gly)
 gnomAD v4
15g.67165044A>TCA392954118SMAD3c.41A>T (p.Glu14Val)
c.356A>T (p.Glu119Val)
c.224A>T (p.Glu75Val)
n.206A>T
c.209A>T (p.Glu70Val)
15g.67165045G>ACA491071613SMAD3c.42G>A (p.Glu14=)
c.357G>A (p.Glu119=)
c.225G>A (p.Glu75=)
n.207G>A
c.210G>A (p.Glu70=)
15g.67165045G>CCA392954119SMAD3c.42G>C (p.Glu14Asp)
c.357G>C (p.Glu119Asp)
c.225G>C (p.Glu75Asp)
n.207G>C
c.210G>C (p.Glu70Asp)
 gnomAD v4
15g.67165045G>TCA392954120SMAD3c.42G>T (p.Glu14Asp)
c.357G>T (p.Glu119Asp)
c.225G>T (p.Glu75Asp)
n.207G>T
c.210G>T (p.Glu70Asp)
15g.67165046G>ACA392954123SMAD3c.43G>A (p.Val15Ile)
c.358G>A (p.Val120Ile)
c.226G>A (p.Val76Ile)
n.208G>A
c.211G>A (p.Val71Ile)
15g.67165046G>CCA392954121SMAD3c.43G>C (p.Val15Leu)
c.358G>C (p.Val120Leu)
c.226G>C (p.Val76Leu)
n.208G>C
c.211G>C (p.Val71Leu)
15g.67165046G>TCA392954122SMAD3c.43G>T (p.Val15Phe)
c.358G>T (p.Val120Phe)
c.226G>T (p.Val76Phe)
n.208G>T
c.211G>T (p.Val71Phe)
 ClinVar
15g.67165047T>ACA392954124SMAD3c.44T>A (p.Val15Asp)
c.359T>A (p.Val120Asp)
c.227T>A (p.Val76Asp)
n.209T>A
c.212T>A (p.Val71Asp)
 ClinVar dbSNP
15g.67165047T>CCA392954125SMAD3c.44T>C (p.Val15Ala)
c.359T>C (p.Val120Ala)
c.227T>C (p.Val76Ala)
n.209T>C
c.212T>C (p.Val71Ala)
 COSMIC COSMIC
15g.67165047T>GCA392954126SMAD3c.44T>G (p.Val15Gly)
c.359T>G (p.Val120Gly)
c.227T>G (p.Val76Gly)
n.209T>G
c.212T>G (p.Val71Gly)
 ClinVar dbSNP
15g.67165047T=CA2184410381SMAD3c.44T= (p.Val15=)
c.359T= (p.Val120=)
c.227T= (p.Val76=)
n.209T=
c.212T= (p.Val71=)
15g.67165048C>ACA491071614SMAD3c.45C>A (p.Val15=)
c.360C>A (p.Val120=)
c.228C>A (p.Val76=)
n.210C>A
c.213C>A (p.Val71=)
15g.67165048C>GCA491071615SMAD3c.45C>G (p.Val15=)
c.360C>G (p.Val120=)
c.228C>G (p.Val76=)
n.210C>G
c.213C>G (p.Val71=)
15g.67165048C>TCA491071616SMAD3c.45C>T (p.Val15=)
c.360C>T (p.Val120=)
c.228C>T (p.Val76=)
n.210C>T
c.213C>T (p.Val71=)
15g.67165049T>ACA392954127SMAD3c.46T>A (p.Cys16Ser)
c.361T>A (p.Cys121Ser)
c.229T>A (p.Cys77Ser)
n.211T>A
c.214T>A (p.Cys72Ser)
15g.67165049T>CCA392954128SMAD3c.46T>C (p.Cys16Arg)
c.361T>C (p.Cys121Arg)
c.229T>C (p.Cys77Arg)
n.211T>C
c.214T>C (p.Cys72Arg)
15g.67165049T>GCA392954129SMAD3c.46T>G (p.Cys16Gly)
c.361T>G (p.Cys121Gly)
c.229T>G (p.Cys77Gly)
n.211T>G
c.214T>G (p.Cys72Gly)
15g.67165050G>ACA392954130SMAD3c.47G>A (p.Cys16Tyr)
c.362G>A (p.Cys121Tyr)
c.230G>A (p.Cys77Tyr)
n.212G>A
c.215G>A (p.Cys72Tyr)
15g.67165050G>CCA392954131SMAD3c.47G>C (p.Cys16Ser)
c.362G>C (p.Cys121Ser)
c.230G>C (p.Cys77Ser)
n.212G>C
c.215G>C (p.Cys72Ser)
15g.67165050G>TCA392954132SMAD3c.47G>T (p.Cys16Phe)
c.362G>T (p.Cys121Phe)
c.230G>T (p.Cys77Phe)
n.212G>T
c.215G>T (p.Cys72Phe)
15g.67165051C>ACA392954133SMAD3c.48C>A (p.Cys16Ter)
c.363C>A (p.Cys121Ter)
c.231C>A (p.Cys77Ter)
n.213C>A
c.216C>A (p.Cys72Ter)
 ClinVar
15g.67165051C=CA2184410382SMAD3c.48C= (p.Cys16=)
c.363C= (p.Cys121=)
c.231C= (p.Cys77=)
n.213C=
c.216C= (p.Cys72=)
15g.67165051C>GCA392954134SMAD3c.48C>G (p.Cys16Trp)
c.363C>G (p.Cys121Trp)
c.231C>G (p.Cys77Trp)
n.213C>G
c.216C>G (p.Cys72Trp)
15g.67165051C>TCA062154SMAD3c.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
15g.67165052G>ACA020081SMAD3c.49G>A (p.Val17Met)
c.364G>A (p.Val122Met)
c.232G>A (p.Val78Met)
n.214G>A
c.217G>A (p.Val73Met)
 ClinVar dbSNP
15g.67165052G>CCA392954136SMAD3c.49G>C (p.Val17Leu)
c.364G>C (p.Val122Leu)
c.232G>C (p.Val78Leu)
n.214G>C
c.217G>C (p.Val73Leu)
 gnomAD v4
15g.67165052G=CA2184410383SMAD3c.49G= (p.Val17=)
c.364G= (p.Val122=)
c.232G= (p.Val78=)
n.214G=
c.217G= (p.Val73=)
15g.67165052G>TCA392954135SMAD3c.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
15g.67165053T>ACA392954137SMAD3c.50T>A (p.Val17Glu)
c.365T>A (p.Val122Glu)
c.233T>A (p.Val78Glu)
n.215T>A
c.218T>A (p.Val73Glu)
15g.67165053T>CCA392954139SMAD3c.50T>C (p.Val17Ala)
c.365T>C (p.Val122Ala)
c.233T>C (p.Val78Ala)
n.215T>C
c.218T>C (p.Val73Ala)
15g.67165053T>GCA392954138SMAD3c.50T>G (p.Val17Gly)
c.365T>G (p.Val122Gly)
c.233T>G (p.Val78Gly)
n.215T>G
c.218T>G (p.Val73Gly)
15g.67165054G>ACA491071619SMAD3c.51G>A (p.Val17=)
c.366G>A (p.Val122=)
c.234G>A (p.Val78=)
n.216G>A
c.219G>A (p.Val73=)
 dbSNP
15g.67165054G>CCA491071618SMAD3c.51G>C (p.Val17=)
c.366G>C (p.Val122=)
c.234G>C (p.Val78=)
n.216G>C
c.219G>C (p.Val73=)
15g.67165054G>TCA491071617SMAD3c.51G>T (p.Val17=)
c.366G>T (p.Val122=)
c.234G>T (p.Val78=)
n.216G>T
c.219G>T (p.Val73=)
15g.67165054_67165066dupCA2695220920SMAD3c.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?)
15g.67165055A>CCA392954140SMAD3c.52A>C (p.Asn18His)
c.367A>C (p.Asn123His)
c.235A>C (p.Asn79His)
n.217A>C
c.220A>C (p.Asn74His)
15g.67165055A>GCA392954141SMAD3c.52A>G (p.Asn18Asp)
c.367A>G (p.Asn123Asp)
c.235A>G (p.Asn79Asp)
n.217A>G
c.220A>G (p.Asn74Asp)
15g.67165055A>TCA392954142SMAD3c.52A>T (p.Asn18Tyr)
c.367A>T (p.Asn123Tyr)
c.235A>T (p.Asn79Tyr)
n.217A>T
c.220A>T (p.Asn74Tyr)
15g.67165056A>CCA392954143SMAD3c.53A>C (p.Asn18Thr)
c.368A>C (p.Asn123Thr)
c.236A>C (p.Asn79Thr)
n.218A>C
c.221A>C (p.Asn74Thr)
15g.67165056A>GCA392954144SMAD3c.53A>G (p.Asn18Ser)
c.368A>G (p.Asn123Ser)
c.236A>G (p.Asn79Ser)
n.218A>G
c.221A>G (p.Asn74Ser)
15g.67165056A>TCA392954145SMAD3c.53A>T (p.Asn18Ile)
c.368A>T (p.Asn123Ile)
c.236A>T (p.Asn79Ile)
n.218A>T
c.221A>T (p.Asn74Ile)
15g.67165057T>ACA392954146SMAD3c.54T>A (p.Asn18Lys)
c.369T>A (p.Asn123Lys)
c.237T>A (p.Asn79Lys)
n.219T>A
c.222T>A (p.Asn74Lys)
15g.67165057T>CCA491071620SMAD3c.54T>C (p.Asn18=)
c.369T>C (p.Asn123=)
c.237T>C (p.Asn79=)
n.219T>C
c.222T>C (p.Asn74=)
 dbSNP
15g.67165057T>GCA392954147SMAD3c.54T>G (p.Asn18Lys)
c.369T>G (p.Asn123Lys)
c.237T>G (p.Asn79Lys)
n.219T>G
c.222T>G (p.Asn74Lys)
15g.67165057T=CA2184410384SMAD3c.54T= (p.Asn18=)
c.369T= (p.Asn123=)
c.237T= (p.Asn79=)
n.219T=
c.222T= (p.Asn74=)
15g.67165057dupCA2695220921SMAD3c.54dup (p.Pro19SerfsTer?)
c.369dup (p.Pro124SerfsTer?)
c.237dup (p.Pro80SerfsTer?)
n.219dup
c.369dup (p.Pro124SerfsTer20)
c.222dup (p.Pro75SerfsTer?)
15g.67165058C>ACA392954148SMAD3c.55C>A (p.Pro19Thr)
c.370C>A (p.Pro124Thr)
c.238C>A (p.Pro80Thr)
n.220C>A
c.223C>A (p.Pro75Thr)
15g.67165058C>GCA392954149SMAD3c.55C>G (p.Pro19Ala)
c.370C>G (p.Pro124Ala)
c.238C>G (p.Pro80Ala)
n.220C>G
c.223C>G (p.Pro75Ala)
15g.67165058C>TCA392954150SMAD3c.55C>T (p.Pro19Ser)
c.370C>T (p.Pro124Ser)
c.238C>T (p.Pro80Ser)
n.220C>T
c.223C>T (p.Pro75Ser)
15g.67165059C>ACA392954152SMAD3c.56C>A (p.Pro19His)
c.371C>A (p.Pro124His)
c.239C>A (p.Pro80His)
n.221C>A
c.224C>A (p.Pro75His)
15g.67165059C=CA2184410385SMAD3c.56C= (p.Pro19=)
c.371C= (p.Pro124=)
c.239C= (p.Pro80=)
n.221C=
c.224C= (p.Pro75=)
15g.67165059C>GCA392954151SMAD3c.56C>G (p.Pro19Arg)
c.371C>G (p.Pro124Arg)
c.239C>G (p.Pro80Arg)
n.221C>G
c.224C>G (p.Pro75Arg)
15g.67165059C>TCA10587875SMAD3c.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
15g.67165060C>ACA062162SMAD3c.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
15g.67165060C=CA2184410386SMAD3c.57C= (p.Pro19=)
c.372C= (p.Pro124=)
c.240C= (p.Pro80=)
n.222C=
c.225C= (p.Pro75=)
15g.67165060C>GCA491071621SMAD3c.57C>G (p.Pro19=)
c.372C>G (p.Pro124=)
c.240C>G (p.Pro80=)
n.222C>G
c.225C>G (p.Pro75=)
 gnomAD v4
15g.67165060C>TCA491071622SMAD3c.57C>T (p.Pro19=)
c.372C>T (p.Pro124=)
c.240C>T (p.Pro80=)
n.222C>T
c.225C>T (p.Pro75=)
 gnomAD v4
15g.67165061T>ACA392954153SMAD3c.58T>A (p.Tyr20Asn)
c.373T>A (p.Tyr125Asn)
c.241T>A (p.Tyr81Asn)
n.223T>A
c.226T>A (p.Tyr76Asn)
15g.67165061T>CCA392954154SMAD3c.58T>C (p.Tyr20His)
c.373T>C (p.Tyr125His)
c.241T>C (p.Tyr81His)
n.223T>C
c.226T>C (p.Tyr76His)
15g.67165061T>GCA392954155SMAD3c.58T>G (p.Tyr20Asp)
c.373T>G (p.Tyr125Asp)
c.241T>G (p.Tyr81Asp)
n.223T>G
c.226T>G (p.Tyr76Asp)
15g.67165062A>CCA392954156SMAD3c.59A>C (p.Tyr20Ser)
c.374A>C (p.Tyr125Ser)
c.242A>C (p.Tyr81Ser)
n.224A>C
c.227A>C (p.Tyr76Ser)
15g.67165062A>GCA392954157SMAD3c.59A>G (p.Tyr20Cys)
c.374A>G (p.Tyr125Cys)
c.242A>G (p.Tyr81Cys)
n.224A>G
c.227A>G (p.Tyr76Cys)
15g.67165062A>TCA392954158SMAD3c.59A>T (p.Tyr20Phe)
c.374A>T (p.Tyr125Phe)
c.242A>T (p.Tyr81Phe)
n.224A>T
c.227A>T (p.Tyr76Phe)
15g.67165063C>ACA392954159SMAD3c.60C>A (p.Tyr20Ter)
c.375C>A (p.Tyr125Ter)
c.243C>A (p.Tyr81Ter)
n.225C>A
c.228C>A (p.Tyr76Ter)
15g.67165063C=CA2184410387SMAD3c.60C= (p.Tyr20=)
c.375C= (p.Tyr125=)
c.243C= (p.Tyr81=)
n.225C=
c.228C= (p.Tyr76=)
15g.67165063C>GCA392954160SMAD3c.60C>G (p.Tyr20Ter)
c.375C>G (p.Tyr125Ter)
c.243C>G (p.Tyr81Ter)
n.225C>G
c.228C>G (p.Tyr76Ter)
15g.67165063C>TCA491071623SMAD3c.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
15g.67165064C>ACA392954161SMAD3c.61C>A (p.His21Asn)
c.376C>A (p.His126Asn)
c.244C>A (p.His82Asn)
n.226C>A
c.229C>A (p.His77Asn)
 ClinVar dbSNP
15g.67165064C=CA2184410388SMAD3c.61C= (p.His21=)
c.376C= (p.His126=)
c.244C= (p.His82=)
n.226C=
c.229C= (p.His77=)
15g.67165064C>GCA392954162SMAD3c.61C>G (p.His21Asp)
c.376C>G (p.His126Asp)
c.244C>G (p.His82Asp)
n.226C>G
c.229C>G (p.His77Asp)
15g.67165064C>TCA10587872SMAD3c.61C>T (p.His21Tyr)
c.376C>T (p.His126Tyr)
c.244C>T (p.His82Tyr)
n.226C>T
c.229C>T (p.His77Tyr)
 ClinVar dbSNP
15g.67165064_67165067dupCA2629117466SMAD3c.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
15g.67165065A=CA2184410389SMAD3c.62A= (p.His21=)
c.377A= (p.His126=)
c.245A= (p.His82=)
n.227A=
c.230A= (p.His77=)
15g.67165065A>CCA392954164SMAD3c.62A>C (p.His21Pro)
c.377A>C (p.His126Pro)
c.245A>C (p.His82Pro)
n.227A>C
c.230A>C (p.His77Pro)
15g.67165065A>GCA324009SMAD3c.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
15g.67165065A>TCA392954163SMAD3c.62A>T (p.His21Leu)
c.377A>T (p.His126Leu)
c.245A>T (p.His82Leu)
n.227A>T
c.230A>T (p.His77Leu)
15g.67165066C>ACA392954165SMAD3c.63C>A (p.His21Gln)
c.378C>A (p.His126Gln)
c.246C>A (p.His82Gln)
n.228C>A
c.231C>A (p.His77Gln)
15g.67165066C>GCA392954166SMAD3c.63C>G (p.His21Gln)
c.378C>G (p.His126Gln)
c.246C>G (p.His82Gln)
n.228C>G
c.231C>G (p.His77Gln)
15g.67165066C>TCA491071624SMAD3c.63C>T (p.His21=)
c.378C>T (p.His126=)
c.246C>T (p.His82=)
n.228C>T
c.231C>T (p.His77=)
 dbSNP
15g.67165066_67165067delinsCTCA2184410390SMAD3c.63_64delinsCT (p.His21=)
c.378_379delinsCT (p.His126=)
c.246_247delinsCT (p.His82=)
n.228_229delinsCT
c.231_232delinsCT (p.His77=)
15g.67165067delCA062166SMAD3c.64del (p.Tyr22ThrfsTer4)
c.379del (p.Tyr127ThrfsTer4)
c.247del (p.Tyr83ThrfsTer4)
n.229del
c.232del (p.Tyr78ThrfsTer4)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.67165067T>ACA392954167SMAD3c.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
15g.67165067T>CCA392954168SMAD3c.64T>C (p.Tyr22His)
c.379T>C (p.Tyr127His)
c.247T>C (p.Tyr83His)
n.229T>C
c.232T>C (p.Tyr78His)
15g.67165067T>GCA392954169SMAD3c.64T>G (p.Tyr22Asp)
c.379T>G (p.Tyr127Asp)
c.247T>G (p.Tyr83Asp)
n.229T>G
c.232T>G (p.Tyr78Asp)
15g.67165067T=CA2184410391SMAD3c.64T= (p.Tyr22=)
c.379T= (p.Tyr127=)
c.247T= (p.Tyr83=)
n.229T=
c.232T= (p.Tyr78=)
15g.67165068A>CCA392954170SMAD3c.65A>C (p.Tyr22Ser)
c.380A>C (p.Tyr127Ser)
c.248A>C (p.Tyr83Ser)
n.230A>C
c.233A>C (p.Tyr78Ser)
15g.67165068A>GCA392954171SMAD3c.65A>G (p.Tyr22Cys)
c.380A>G (p.Tyr127Cys)
c.248A>G (p.Tyr83Cys)
n.230A>G
c.233A>G (p.Tyr78Cys)
 ClinVar
15g.67165068A>TCA392954172SMAD3c.65A>T (p.Tyr22Phe)
c.380A>T (p.Tyr127Phe)
c.248A>T (p.Tyr83Phe)
n.230A>T
c.233A>T (p.Tyr78Phe)
15g.67165069C>ACA392954173SMAD3c.66C>A (p.Tyr22Ter)
c.381C>A (p.Tyr127Ter)
c.249C>A (p.Tyr83Ter)
n.231C>A
c.234C>A (p.Tyr78Ter)
 ClinVar
15g.67165069C=CA2184410392SMAD3c.66C= (p.Tyr22=)
c.381C= (p.Tyr127=)
c.249C= (p.Tyr83=)
n.231C=
c.234C= (p.Tyr78=)
15g.67165069C>GCA392954174SMAD3c.66C>G (p.Tyr22Ter)
c.381C>G (p.Tyr127Ter)
c.249C>G (p.Tyr83Ter)
n.231C>G
c.234C>G (p.Tyr78Ter)
15g.67165069C>TCA10587873SMAD3c.66C>T (p.Tyr22=)
c.381C>T (p.Tyr127=)
c.249C>T (p.Tyr83=)
n.231C>T
c.234C>T (p.Tyr78=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.67165070C>ACA392954177SMAD3c.67C>A (p.Gln23Lys)
c.382C>A (p.Gln128Lys)
c.250C>A (p.Gln84Lys)
n.232C>A
c.235C>A (p.Gln79Lys)
15g.67165070C>GCA392954176SMAD3c.67C>G (p.Gln23Glu)
c.382C>G (p.Gln128Glu)
c.250C>G (p.Gln84Glu)
n.232C>G
c.235C>G (p.Gln79Glu)
15g.67165070C>TCA392954175SMAD3c.67C>T (p.Gln23Ter)
c.382C>T (p.Gln128Ter)
c.250C>T (p.Gln84Ter)
n.232C>T
c.235C>T (p.Gln79Ter)
 ClinVar dbSNP
15g.67165070_67165072delinsCAGCA2184410393SMAD3c.67_69delinsCAG (p.Gln23=)
c.382_384delinsCAG (p.Gln128=)
c.250_252delinsCAG (p.Gln84=)
n.232_234delinsCAG
c.235_237delinsCAG (p.Gln79=)
15g.67165071A>CCA392954178SMAD3c.68A>C (p.Gln23Pro)
c.383A>C (p.Gln128Pro)
c.251A>C (p.Gln84Pro)
n.233A>C
c.236A>C (p.Gln79Pro)
15g.67165071A>GCA392954179SMAD3c.68A>G (p.Gln23Arg)
c.383A>G (p.Gln128Arg)
c.251A>G (p.Gln84Arg)
n.233A>G
c.236A>G (p.Gln79Arg)
 gnomAD v4
15g.67165071A>TCA392954180SMAD3c.68A>T (p.Gln23Leu)
c.383A>T (p.Gln128Leu)
c.251A>T (p.Gln84Leu)
n.233A>T
c.236A>T (p.Gln79Leu)
15g.67165075_67165076delCA322453SMAD3c.72_73del (p.Arg24SerfsTer?)
c.387_388del (p.Arg129SerfsTer?)
c.255_256del (p.Arg85SerfsTer?)
n.237_238del
c.387_388del (p.Arg129SerfsTer14)
c.240_241del (p.Arg80SerfsTer?)
 ClinVar dbSNP
15g.67165072G>ACA491071625SMAD3c.69G>A (p.Gln23=)
c.384G>A (p.Gln128=)
c.252G>A (p.Gln84=)
n.234G>A
c.237G>A (p.Gln79=)
 dbSNP
15g.67165072G>CCA392954181SMAD3c.69G>C (p.Gln23His)
c.384G>C (p.Gln128His)
c.252G>C (p.Gln84His)
n.234G>C
c.237G>C (p.Gln79His)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
15g.67165072G=CA2184410394SMAD3c.69G= (p.Gln23=)
c.384G= (p.Gln128=)
c.252G= (p.Gln84=)
n.234G=
c.237G= (p.Gln79=)
15g.67165072G>TCA392954182SMAD3c.69G>T (p.Gln23His)
c.384G>T (p.Gln128His)
c.252G>T (p.Gln84His)
n.234G>T
c.237G>T (p.Gln79His)
15g.67165073A>CCA491071626SMAD3c.70A>C (p.Arg24=)
c.385A>C (p.Arg129=)
c.253A>C (p.Arg85=)
n.235A>C
c.238A>C (p.Arg80=)
15g.67165073A>GCA392954183SMAD3c.70A>G (p.Arg24Gly)
c.385A>G (p.Arg129Gly)
c.253A>G (p.Arg85Gly)
n.235A>G
c.238A>G (p.Arg80Gly)
15g.67165073A>TCA392954184SMAD3c.70A>T (p.Arg24Ter)
c.385A>T (p.Arg129Ter)
c.253A>T (p.Arg85Ter)
n.235A>T
c.238A>T (p.Arg80Ter)
15g.67165074G>ACA392954185SMAD3c.71G>A (p.Arg24Lys)
c.386G>A (p.Arg129Lys)
c.254G>A (p.Arg85Lys)
n.236G>A
c.239G>A (p.Arg80Lys)
15g.67165074G>CCA392954186SMAD3c.71G>C (p.Arg24Thr)
c.386G>C (p.Arg129Thr)
c.254G>C (p.Arg85Thr)
n.236G>C
c.239G>C (p.Arg80Thr)
15g.67165074G>TCA392954187SMAD3c.71G>T (p.Arg24Ile)
c.386G>T (p.Arg129Ile)
c.254G>T (p.Arg85Ile)
n.236G>T
c.239G>T (p.Arg80Ile)
15g.67165075A>CCA392954188SMAD3c.72A>C (p.Arg24Ser)
c.387A>C (p.Arg129Ser)
c.255A>C (p.Arg85Ser)
n.237A>C
c.240A>C (p.Arg80Ser)
15g.67165075A>GCA491071627SMAD3c.72A>G (p.Arg24=)
c.387A>G (p.Arg129=)
c.255A>G (p.Arg85=)
n.237A>G
c.240A>G (p.Arg80=)
 gnomAD v4
15g.67165075A>TCA392954189SMAD3c.72A>T (p.Arg24Ser)
c.387A>T (p.Arg129Ser)
c.255A>T (p.Arg85Ser)
n.237A>T
c.240A>T (p.Arg80Ser)
15g.67165076G>ACA392954192SMAD3c.73G>A (p.Val25Ile)
c.388G>A (p.Val130Ile)
c.256G>A (p.Val86Ile)
n.238G>A
c.241G>A (p.Val81Ile)
 gnomAD v4
15g.67165076G>CCA392954191SMAD3c.73G>C (p.Val25Leu)
c.388G>C (p.Val130Leu)
c.256G>C (p.Val86Leu)
n.238G>C
c.241G>C (p.Val81Leu)
15g.67165076G>TCA392954190SMAD3c.73G>T (p.Val25Leu)
c.388G>T (p.Val130Leu)
c.256G>T (p.Val86Leu)
n.238G>T
c.241G>T (p.Val81Leu)

Number of alleles fetched