| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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) | |
| 15 | g.67165069C>A | CA392954173 | SMAD3 | c.66C>A (p.Tyr22Ter) c.381C>A (p.Tyr127Ter) c.249C>A (p.Tyr83Ter) n.231C>A c.234C>A (p.Tyr78Ter) | ClinVar |
| 15 | g.67165069C= | CA2184410392 | SMAD3 | c.66C= (p.Tyr22=) c.381C= (p.Tyr127=) c.249C= (p.Tyr83=) n.231C= c.234C= (p.Tyr78=) | |
| 15 | g.67165069C>G | CA392954174 | SMAD3 | c.66C>G (p.Tyr22Ter) c.381C>G (p.Tyr127Ter) c.249C>G (p.Tyr83Ter) n.231C>G c.234C>G (p.Tyr78Ter) | |
| 15 | g.67165069C>T | CA10587873 | SMAD3 | c.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 |
| 15 | g.67165070C>A | CA392954177 | SMAD3 | c.67C>A (p.Gln23Lys) c.382C>A (p.Gln128Lys) c.250C>A (p.Gln84Lys) n.232C>A c.235C>A (p.Gln79Lys) | |
| 15 | g.67165070C>G | CA392954176 | SMAD3 | c.67C>G (p.Gln23Glu) c.382C>G (p.Gln128Glu) c.250C>G (p.Gln84Glu) n.232C>G c.235C>G (p.Gln79Glu) | |
| 15 | g.67165070C>T | CA392954175 | SMAD3 | c.67C>T (p.Gln23Ter) c.382C>T (p.Gln128Ter) c.250C>T (p.Gln84Ter) n.232C>T c.235C>T (p.Gln79Ter) | ClinVar dbSNP |
| 15 | g.67165070_67165072delinsCAG | CA2184410393 | SMAD3 | c.67_69delinsCAG (p.Gln23=) c.382_384delinsCAG (p.Gln128=) c.250_252delinsCAG (p.Gln84=) n.232_234delinsCAG c.235_237delinsCAG (p.Gln79=) | |
| 15 | g.67165071A>C | CA392954178 | SMAD3 | c.68A>C (p.Gln23Pro) c.383A>C (p.Gln128Pro) c.251A>C (p.Gln84Pro) n.233A>C c.236A>C (p.Gln79Pro) | |
| 15 | g.67165071A>G | CA392954179 | SMAD3 | c.68A>G (p.Gln23Arg) c.383A>G (p.Gln128Arg) c.251A>G (p.Gln84Arg) n.233A>G c.236A>G (p.Gln79Arg) | gnomAD v4 |
| 15 | g.67165071A>T | CA392954180 | SMAD3 | c.68A>T (p.Gln23Leu) c.383A>T (p.Gln128Leu) c.251A>T (p.Gln84Leu) n.233A>T c.236A>T (p.Gln79Leu) | |
| 15 | g.67165075_67165076del | CA322453 | SMAD3 | c.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 |
| 15 | g.67165072G>A | CA491071625 | SMAD3 | c.69G>A (p.Gln23=) c.384G>A (p.Gln128=) c.252G>A (p.Gln84=) n.234G>A c.237G>A (p.Gln79=) | dbSNP |
| 15 | g.67165072G>C | CA392954181 | SMAD3 | c.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 |
| 15 | g.67165072G= | CA2184410394 | SMAD3 | c.69G= (p.Gln23=) c.384G= (p.Gln128=) c.252G= (p.Gln84=) n.234G= c.237G= (p.Gln79=) | |
| 15 | g.67165072G>T | CA392954182 | SMAD3 | c.69G>T (p.Gln23His) c.384G>T (p.Gln128His) c.252G>T (p.Gln84His) n.234G>T c.237G>T (p.Gln79His) | |
| 15 | g.67165073A>C | CA491071626 | SMAD3 | c.70A>C (p.Arg24=) c.385A>C (p.Arg129=) c.253A>C (p.Arg85=) n.235A>C c.238A>C (p.Arg80=) | |
| 15 | g.67165073A>G | CA392954183 | SMAD3 | c.70A>G (p.Arg24Gly) c.385A>G (p.Arg129Gly) c.253A>G (p.Arg85Gly) n.235A>G c.238A>G (p.Arg80Gly) | |
| 15 | g.67165073A>T | CA392954184 | SMAD3 | c.70A>T (p.Arg24Ter) c.385A>T (p.Arg129Ter) c.253A>T (p.Arg85Ter) n.235A>T c.238A>T (p.Arg80Ter) | |
| 15 | g.67165074G>A | CA392954185 | SMAD3 | c.71G>A (p.Arg24Lys) c.386G>A (p.Arg129Lys) c.254G>A (p.Arg85Lys) n.236G>A c.239G>A (p.Arg80Lys) | |
| 15 | g.67165074G>C | CA392954186 | SMAD3 | c.71G>C (p.Arg24Thr) c.386G>C (p.Arg129Thr) c.254G>C (p.Arg85Thr) n.236G>C c.239G>C (p.Arg80Thr) | |
| 15 | g.67165074G>T | CA392954187 | SMAD3 | c.71G>T (p.Arg24Ile) c.386G>T (p.Arg129Ile) c.254G>T (p.Arg85Ile) n.236G>T c.239G>T (p.Arg80Ile) | |
| 15 | g.67165075A>C | CA392954188 | SMAD3 | c.72A>C (p.Arg24Ser) c.387A>C (p.Arg129Ser) c.255A>C (p.Arg85Ser) n.237A>C c.240A>C (p.Arg80Ser) | |
| 15 | g.67165075A>G | CA491071627 | SMAD3 | c.72A>G (p.Arg24=) c.387A>G (p.Arg129=) c.255A>G (p.Arg85=) n.237A>G c.240A>G (p.Arg80=) | gnomAD v4 |
| 15 | g.67165075A>T | CA392954189 | SMAD3 | c.72A>T (p.Arg24Ser) c.387A>T (p.Arg129Ser) c.255A>T (p.Arg85Ser) n.237A>T c.240A>T (p.Arg80Ser) | |
| 15 | g.67165076G>A | CA392954192 | SMAD3 | c.73G>A (p.Val25Ile) c.388G>A (p.Val130Ile) c.256G>A (p.Val86Ile) n.238G>A c.241G>A (p.Val81Ile) | gnomAD v4 |
| 15 | g.67165076G>C | CA392954191 | SMAD3 | c.73G>C (p.Val25Leu) c.388G>C (p.Val130Leu) c.256G>C (p.Val86Leu) n.238G>C c.241G>C (p.Val81Leu) | |
| 15 | g.67165076G>T | CA392954190 | SMAD3 | c.73G>T (p.Val25Leu) c.388G>T (p.Val130Leu) c.256G>T (p.Val86Leu) n.238G>T c.241G>T (p.Val81Leu) | |
| 15 | g.67165077T>A | CA392954193 | SMAD3 | c.74T>A (p.Val25Glu) c.389T>A (p.Val130Glu) c.257T>A (p.Val86Glu) n.239T>A c.242T>A (p.Val81Glu) | |
| 15 | g.67165077T>C | CA392954195 | SMAD3 | c.74T>C (p.Val25Ala) c.389T>C (p.Val130Ala) c.257T>C (p.Val86Ala) n.239T>C c.242T>C (p.Val81Ala) | dbSNP |
| 15 | g.67165077T>G | CA392954194 | SMAD3 | c.74T>G (p.Val25Gly) c.389T>G (p.Val130Gly) c.257T>G (p.Val86Gly) n.239T>G c.242T>G (p.Val81Gly) | |
| 15 | g.67165077T= | CA2184410395 | SMAD3 | c.74T= (p.Val25=) c.389T= (p.Val130=) c.257T= (p.Val86=) n.239T= c.242T= (p.Val81=) | |
| 15 | g.67165078A>C | CA491071628 | SMAD3 | c.75A>C (p.Val25=) c.390A>C (p.Val130=) c.258A>C (p.Val86=) n.240A>C c.243A>C (p.Val81=) | |
| 15 | g.67165078A>G | CA491071629 | SMAD3 | c.75A>G (p.Val25=) c.390A>G (p.Val130=) c.258A>G (p.Val86=) n.240A>G c.243A>G (p.Val81=) | |
| 15 | g.67165078A>T | CA491071630 | SMAD3 | c.75A>T (p.Val25=) c.390A>T (p.Val130=) c.258A>T (p.Val86=) n.240A>T c.243A>T (p.Val81=) | |
| 15 | g.67165079_67165082dup | CA2695220922 | SMAD3 | c.76_79dup (p.Thr27ArgfsTer?) c.391_394dup (p.Thr132ArgfsTer?) c.259_262dup (p.Thr88ArgfsTer?) n.241_244dup c.391_394dup (p.Thr132ArgfsTer13) c.244_247dup (p.Thr83ArgfsTer?) | |
| 15 | g.67165079G>A | CA392954196 | SMAD3 | c.76G>A (p.Glu26Lys) c.391G>A (p.Glu131Lys) c.259G>A (p.Glu87Lys) n.241G>A c.244G>A (p.Glu82Lys) | dbSNP |
| 15 | g.67165079G>C | CA062168 | SMAD3 | c.76G>C (p.Glu26Gln) c.391G>C (p.Glu131Gln) c.259G>C (p.Glu87Gln) n.241G>C c.244G>C (p.Glu82Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.67165079G= | CA2184410396 | SMAD3 | c.76G= (p.Glu26=) c.391G= (p.Glu131=) c.259G= (p.Glu87=) n.241G= c.244G= (p.Glu82=) | |
| 15 | g.67165079G>T | CA392954197 | SMAD3 | c.76G>T (p.Glu26Ter) c.391G>T (p.Glu131Ter) c.259G>T (p.Glu87Ter) n.241G>T c.244G>T (p.Glu82Ter) | |
| 15 | g.67165080A>C | CA392954198 | SMAD3 | c.77A>C (p.Glu26Ala) c.392A>C (p.Glu131Ala) c.260A>C (p.Glu87Ala) n.242A>C c.245A>C (p.Glu82Ala) | |
| 15 | g.67165080A>G | CA392954200 | SMAD3 | c.77A>G (p.Glu26Gly) c.392A>G (p.Glu131Gly) c.260A>G (p.Glu87Gly) n.242A>G c.245A>G (p.Glu82Gly) | |
| 15 | g.67165080A>T | CA392954199 | SMAD3 | c.77A>T (p.Glu26Val) c.392A>T (p.Glu131Val) c.260A>T (p.Glu87Val) n.242A>T c.245A>T (p.Glu82Val) | |
| 15 | g.67165080_67165113delinsAGACACCAGGTATGCTGCCTGGCCTGCCTGTGGG | CA2184410397 | SMAD3 | c.77_85+25delinsAGACACCAGGTATGCTGCCTGGCCTGCCTGTGGG c.392_400+25delinsAGACACCAGGTATGCTGCCTGGCCTGCCTGTGGG c.260_268+25delinsAGACACCAGGTATGCTGCCTGGCCTGCCTGTGGG n.242_250+25delinsAGACACCAGGTATGCTGCCTGGCCTGCCTGTGGG c.245_253+25delinsAGACACCAGGTATGCTGCCTGGCCTGCCTGTGGG | |
| 15 | g.67165081G>A | CA491071633 | SMAD3 | c.78G>A (p.Glu26=) c.393G>A (p.Glu131=) c.261G>A (p.Glu87=) n.243G>A c.246G>A (p.Glu82=) | ClinVar dbSNP |
| 15 | g.67165081G>C | CA392954201 | SMAD3 | c.78G>C (p.Glu26Asp) c.393G>C (p.Glu131Asp) c.261G>C (p.Glu87Asp) n.243G>C c.246G>C (p.Glu82Asp) | dbSNP |
| 15 | g.67165081G>T | CA392954202 | SMAD3 | c.78G>T (p.Glu26Asp) c.393G>T (p.Glu131Asp) c.261G>T (p.Glu87Asp) n.243G>T c.246G>T (p.Glu82Asp) | |
| 15 | g.67165085_67165117del | CA919580148 | SMAD3 | c.82_85+29del c.397_400+29del c.265_268+29del n.247_250+29del c.250_253+29del | dbSNP |
| 15 | g.67165082A= | CA2184410398 | SMAD3 | c.79A= (p.Thr27=) c.394A= (p.Thr132=) c.262A= (p.Thr88=) n.244A= c.247A= (p.Thr83=) | |
| 15 | g.67165082A>C | CA392954203 | SMAD3 | c.79A>C (p.Thr27Pro) c.394A>C (p.Thr132Pro) c.262A>C (p.Thr88Pro) n.244A>C c.247A>C (p.Thr83Pro) | |
| 15 | g.67165082A>G | CA062171 | SMAD3 | c.79A>G (p.Thr27Ala) c.394A>G (p.Thr132Ala) c.262A>G (p.Thr88Ala) n.244A>G c.247A>G (p.Thr83Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.67165082A>T | CA392954204 | SMAD3 | c.79A>T (p.Thr27Ser) c.394A>T (p.Thr132Ser) c.262A>T (p.Thr88Ser) n.244A>T c.247A>T (p.Thr83Ser) | |
| 15 | g.67165083C>A | CA392954205 | SMAD3 | c.80C>A (p.Thr27Lys) c.395C>A (p.Thr132Lys) c.263C>A (p.Thr88Lys) n.245C>A c.248C>A (p.Thr83Lys) | |
| 15 | g.67165083C>G | CA392954206 | SMAD3 | c.80C>G (p.Thr27Arg) c.395C>G (p.Thr132Arg) c.263C>G (p.Thr88Arg) n.245C>G c.248C>G (p.Thr83Arg) | |
| 15 | g.67165083C>T | CA392954207 | SMAD3 | c.80C>T (p.Thr27Ile) c.395C>T (p.Thr132Ile) c.263C>T (p.Thr88Ile) n.245C>T c.248C>T (p.Thr83Ile) | |
| 15 | g.67165084A= | CA2184410399 | SMAD3 | c.81A= (p.Thr27=) c.396A= (p.Thr132=) c.264A= (p.Thr88=) n.246A= c.249A= (p.Thr83=) | |
| 15 | g.67165084A>C | CA491071634 | SMAD3 | c.81A>C (p.Thr27=) c.396A>C (p.Thr132=) c.264A>C (p.Thr88=) n.246A>C c.249A>C (p.Thr83=) | dbSNP |
| 15 | g.67165084A>G | CA491071635 | SMAD3 | c.81A>G (p.Thr27=) c.396A>G (p.Thr132=) c.264A>G (p.Thr88=) n.246A>G c.249A>G (p.Thr83=) | |
| 15 | g.67165084A>T | CA491071636 | SMAD3 | c.81A>T (p.Thr27=) c.396A>T (p.Thr132=) c.264A>T (p.Thr88=) n.246A>T c.249A>T (p.Thr83=) | |
| 15 | g.67165084_67165085delinsAC | CA2184410400 | SMAD3 | c.81_82delinsAC (p.Thr27=) c.396_397delinsAC (p.Thr132=) c.264_265delinsAC (p.Thr88=) n.246_247delinsAC c.249_250delinsAC (p.Thr83=) | |
| 15 | g.67165085C>A | CA392954208 | SMAD3 | c.82C>A (p.Pro28Thr) c.397C>A (p.Pro133Thr) c.265C>A (p.Pro89Thr) n.247C>A c.250C>A (p.Pro84Thr) | |
| 15 | g.67165085C>G | CA392954209 | SMAD3 | c.82C>G (p.Pro28Ala) c.397C>G (p.Pro133Ala) c.265C>G (p.Pro89Ala) n.247C>G c.250C>G (p.Pro84Ala) | |
| 15 | g.67165085C>T | CA392954210 | SMAD3 | c.82C>T (p.Pro28Ser) c.397C>T (p.Pro133Ser) c.265C>T (p.Pro89Ser) n.247C>T c.250C>T (p.Pro84Ser) | |
| 15 | g.67165086del | CA915946052 | SMAD3 | c.83del (p.Pro28GlnfsTer?) c.398del (p.Pro133GlnfsTer?) c.266del (p.Pro89GlnfsTer?) n.248del c.398del (p.Pro133GlnfsTer9) c.251del (p.Pro84GlnfsTer?) | ClinVar dbSNP |
| 15 | g.67165086C>A | CA392954213 | SMAD3 | c.83C>A (p.Pro28Gln) c.398C>A (p.Pro133Gln) c.266C>A (p.Pro89Gln) n.248C>A c.251C>A (p.Pro84Gln) | |
| 15 | g.67165086C>G | CA392954212 | SMAD3 | c.83C>G (p.Pro28Arg) c.398C>G (p.Pro133Arg) c.266C>G (p.Pro89Arg) n.248C>G c.251C>G (p.Pro84Arg) | ClinVar dbSNP |
| 15 | g.67165086C>T | CA392954211 | SMAD3 | c.83C>T (p.Pro28Leu) c.398C>T (p.Pro133Leu) c.266C>T (p.Pro89Leu) n.248C>T c.251C>T (p.Pro84Leu) | |
| 15 | g.67165086_67165087delinsCA | CA2184410401 | SMAD3 | c.83_84delinsCA (p.Pro28=) c.398_399delinsCA (p.Pro133=) c.266_267delinsCA (p.Pro89=) n.248_249delinsCA c.251_252delinsCA (p.Pro84=) | |
| 15 | g.67165087del | CA324048 | SMAD3 | c.84del (p.Val29PhefsTer?) c.399del (p.Val134PhefsTer?) c.267del (p.Val90PhefsTer?) n.249del c.399del (p.Glu134ArgfsTer8) c.252del (p.Val85PhefsTer?) | dbSNP |
| 15 | g.67165087A>C | CA491071637 | SMAD3 | c.84A>C (p.Pro28=) c.399A>C (p.Pro133=) c.267A>C (p.Pro89=) n.249A>C c.252A>C (p.Pro84=) | |
| 15 | g.67165087A>G | CA491071638 | SMAD3 | c.84A>G (p.Pro28=) c.399A>G (p.Pro133=) c.267A>G (p.Pro89=) n.249A>G c.252A>G (p.Pro84=) | |
| 15 | g.67165087A>T | CA491071639 | SMAD3 | c.84A>T (p.Pro28=) c.399A>T (p.Pro133=) c.267A>T (p.Pro89=) n.249A>T c.252A>T (p.Pro84=) | |
| 15 | g.67165088G>A | CA392954214 | SMAD3 | c.85G>A (p.Val29Ile) c.400G>A (p.Val134Ile) c.268G>A (p.Val90Ile) n.250G>A c.400G>A (p.Glu134Lys) c.253G>A (p.Val85Ile) | gnomAD v4 |
| 15 | g.67165088G>C | CA392954215 | SMAD3 | c.85G>C (p.Val29Leu) c.400G>C (p.Val134Leu) c.268G>C (p.Val90Leu) n.250G>C c.400G>C (p.Glu134Gln) c.253G>C (p.Val85Leu) | |
| 15 | g.67165088G>T | CA392954216 | SMAD3 | c.85G>T (p.Val29Phe) c.400G>T (p.Val134Phe) c.268G>T (p.Val90Phe) n.250G>T c.400G>T (p.Glu134Ter) c.253G>T (p.Val85Phe) | |
| 15 | g.67165089G>A | CA392954217 | SMAD3 | c.85+1G>A (n.85+1G>A) c.400+1G>A (n.400+1G>A) c.268+1G>A (n.268+1G>A) n.250+1G>A c.253+1G>A (n.253+1G>A) | |
| 15 | g.67165089G>C | CA392954218 | SMAD3 | c.85+1G>C (n.85+1G>C) c.400+1G>C (n.400+1G>C) c.268+1G>C (n.268+1G>C) n.250+1G>C c.253+1G>C (n.253+1G>C) | gnomAD v4 |
| 15 | g.67165089G>T | CA392954219 | SMAD3 | c.85+1G>T (n.85+1G>T) c.400+1G>T (n.400+1G>T) c.268+1G>T (n.268+1G>T) n.250+1G>T c.253+1G>T (n.253+1G>T) | |
| 15 | g.67165090T>A | CA392954220 | SMAD3 | c.85+2T>A (n.85+2T>A) c.400+2T>A (n.400+2T>A) c.268+2T>A (n.268+2T>A) n.250+2T>A c.253+2T>A (n.253+2T>A) | |
| 15 | g.67165090T>C | CA392954221 | SMAD3 | c.85+2T>C (n.85+2T>C) c.400+2T>C (n.400+2T>C) c.268+2T>C (n.268+2T>C) n.250+2T>C c.253+2T>C (n.253+2T>C) | |
| 15 | g.67165090T>G | CA392954222 | SMAD3 | c.85+2T>G (n.85+2T>G) c.400+2T>G (n.400+2T>G) c.268+2T>G (n.268+2T>G) n.250+2T>G c.253+2T>G (n.253+2T>G) | |
| 15 | g.67165090dup | CA2629117467 | SMAD3 | c.85+2dup (n.85+2dup) c.400+2dup (n.400+2dup) c.268+2dup (n.268+2dup) n.250+2dup c.253+2dup (n.253+2dup) | gnomAD v4 |
| 15 | g.67165091A= | CA2184410402 | SMAD3 | c.85+3A= (n.85+3A=) c.400+3A= (n.400+3A=) c.268+3A= (n.268+3A=) n.250+3A= c.253+3A= (n.253+3A=) | |
| 15 | g.67165091A>G | CA618958999 | SMAD3 | c.85+3A>G (n.85+3A>G) c.400+3A>G (n.400+3A>G) c.268+3A>G (n.268+3A>G) n.250+3A>G c.253+3A>G (n.253+3A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.67165093G= | CA2184410403 | SMAD3 | c.85+5G= (n.85+5G=) c.400+5G= (n.400+5G=) c.268+5G= (n.268+5G=) n.250+5G= c.253+5G= (n.253+5G=) | |
| 15 | g.67165093G>T | CA062181 | SMAD3 | c.85+5G>T (n.85+5G>T) c.400+5G>T (n.400+5G>T) c.268+5G>T (n.268+5G>T) n.250+5G>T c.253+5G>T (n.253+5G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.67165094C>A | CA2629117468 | SMAD3 | c.85+6C>A (n.85+6C>A) c.400+6C>A (n.400+6C>A) c.268+6C>A (n.268+6C>A) n.250+6C>A c.253+6C>A (n.253+6C>A) | gnomAD v4 |
| 15 | g.67165095T>C | CA2184410405 | SMAD3 | c.85+7T>C (n.85+7T>C) c.400+7T>C (n.400+7T>C) c.268+7T>C (n.268+7T>C) n.250+7T>C c.253+7T>C (n.253+7T>C) | dbSNP |
| 15 | g.67165095T= | CA2184410404 | SMAD3 | c.85+7T= (n.85+7T=) c.400+7T= (n.400+7T=) c.268+7T= (n.268+7T=) n.250+7T= c.253+7T= (n.253+7T=) | |
| 15 | g.67165096G>A | CA2184410407 | SMAD3 | c.85+8G>A (n.85+8G>A) c.400+8G>A (n.400+8G>A) c.268+8G>A (n.268+8G>A) n.250+8G>A c.253+8G>A (n.253+8G>A) | dbSNP |
| 15 | g.67165096G>C | CA2629117469 | SMAD3 | c.85+8G>C (n.85+8G>C) c.400+8G>C (n.400+8G>C) c.268+8G>C (n.268+8G>C) n.250+8G>C c.253+8G>C (n.253+8G>C) | gnomAD v4 |
| 15 | g.67165096G= | CA2184410406 | SMAD3 | c.85+8G= (n.85+8G=) c.400+8G= (n.400+8G=) c.268+8G= (n.268+8G=) n.250+8G= c.253+8G= (n.253+8G=) | |
| 15 | g.67165097C>T | CA2804553037 | SMAD3 | c.85+9C>T (n.85+9C>T) c.400+9C>T (n.400+9C>T) c.268+9C>T (n.268+9C>T) n.250+9C>T c.253+9C>T (n.253+9C>T) |