Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.99146506C>ACA466435266TGFBR1c.945C>A (p.Leu315=)
c.957C>A (p.Leu319=)
c.*74C>A (n.*74C>A)
c.714C>A (p.Leu238=)
c.*948C>A (n.*948C>A)
c.1152C>A (p.Leu384=)
c.921C>A (p.Leu307=)
c.1143-1148C>A (n.1143-1148C>A)
c.1164C>A (p.Leu388=)
9g.99146506C=CA1867263803TGFBR1c.945C= (p.Leu315=)
c.957C= (p.Leu319=)
c.*74C= (n.*74C=)
c.714C= (p.Leu238=)
c.*948C= (n.*948C=)
c.1152C= (p.Leu384=)
c.921C= (p.Leu307=)
c.1143-1148C= (n.1143-1148C=)
c.1164C= (p.Leu388=)
9g.99146506C>GCA466435267TGFBR1c.945C>G (p.Leu315=)
c.957C>G (p.Leu319=)
c.*74C>G (n.*74C>G)
c.714C>G (p.Leu238=)
c.*948C>G (n.*948C>G)
c.1152C>G (p.Leu384=)
c.921C>G (p.Leu307=)
c.1143-1148C>G (n.1143-1148C>G)
c.1164C>G (p.Leu388=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.99146506C>TCA008710TGFBR1c.945C>T (p.Leu315=)
c.957C>T (p.Leu319=)
c.*74C>T (n.*74C>T)
c.714C>T (p.Leu238=)
c.*948C>T (n.*948C>T)
c.1152C>T (p.Leu384=)
c.921C>T (p.Leu307=)
c.1143-1148C>T (n.1143-1148C>T)
c.1164C>T (p.Leu388=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.99146507G>ACA374232705TGFBR1c.946G>A (p.Asp316Asn)
c.958G>A (p.Asp320Asn)
c.*75G>A (n.*75G>A)
c.715G>A (p.Asp239Asn)
c.*949G>A (n.*949G>A)
c.1153G>A (p.Asp385Asn)
c.922G>A (p.Asp308Asn)
c.1143-1147G>A (n.1143-1147G>A)
c.1165G>A (p.Asp389Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.99146507G>CCA374232709TGFBR1c.946G>C (p.Asp316His)
c.958G>C (p.Asp320His)
c.*75G>C (n.*75G>C)
c.715G>C (p.Asp239His)
c.*949G>C (n.*949G>C)
c.1153G>C (p.Asp385His)
c.922G>C (p.Asp308His)
c.1143-1147G>C (n.1143-1147G>C)
c.1165G>C (p.Asp389His)
9g.99146507G=CA1867263808TGFBR1c.946G= (p.Asp316=)
c.958G= (p.Asp320=)
c.*75G= (n.*75G=)
c.715G= (p.Asp239=)
c.*949G= (n.*949G=)
c.1153G= (p.Asp385=)
c.922G= (p.Asp308=)
c.1143-1147G= (n.1143-1147G=)
c.1165G= (p.Asp389=)
9g.99146507G>TCA374232708TGFBR1c.946G>T (p.Asp316Tyr)
c.958G>T (p.Asp320Tyr)
c.*75G>T (n.*75G>T)
c.715G>T (p.Asp239Tyr)
c.*949G>T (n.*949G>T)
c.1153G>T (p.Asp385Tyr)
c.922G>T (p.Asp308Tyr)
c.1143-1147G>T (n.1143-1147G>T)
c.1165G>T (p.Asp389Tyr)
9g.99146508A>CCA374232712TGFBR1c.947A>C (p.Asp316Ala)
c.959A>C (p.Asp320Ala)
c.*76A>C (n.*76A>C)
c.716A>C (p.Asp239Ala)
c.*950A>C (n.*950A>C)
c.1154A>C (p.Asp385Ala)
c.923A>C (p.Asp308Ala)
c.1143-1146A>C (n.1143-1146A>C)
c.1166A>C (p.Asp389Ala)
9g.99146508A>GCA374232715TGFBR1c.947A>G (p.Asp316Gly)
c.959A>G (p.Asp320Gly)
c.*76A>G (n.*76A>G)
c.716A>G (p.Asp239Gly)
c.*950A>G (n.*950A>G)
c.1154A>G (p.Asp385Gly)
c.923A>G (p.Asp308Gly)
c.1143-1146A>G (n.1143-1146A>G)
c.1166A>G (p.Asp389Gly)
 gnomAD v4
9g.99146508A>TCA374232717TGFBR1c.947A>T (p.Asp316Val)
c.959A>T (p.Asp320Val)
c.*76A>T (n.*76A>T)
c.716A>T (p.Asp239Val)
c.*950A>T (n.*950A>T)
c.1154A>T (p.Asp385Val)
c.923A>T (p.Asp308Val)
c.1143-1146A>T (n.1143-1146A>T)
c.1166A>T (p.Asp389Val)
9g.99146509T>ACA374232719TGFBR1c.948T>A (p.Asp316Glu)
c.960T>A (p.Asp320Glu)
c.*77T>A (n.*77T>A)
c.717T>A (p.Asp239Glu)
c.*951T>A (n.*951T>A)
c.1155T>A (p.Asp385Glu)
c.924T>A (p.Asp308Glu)
c.1143-1145T>A (n.1143-1145T>A)
c.1167T>A (p.Asp389Glu)
9g.99146509T>CCA466435270TGFBR1c.948T>C (p.Asp316=)
c.960T>C (p.Asp320=)
c.*77T>C (n.*77T>C)
c.717T>C (p.Asp239=)
c.*951T>C (n.*951T>C)
c.1155T>C (p.Asp385=)
c.924T>C (p.Asp308=)
c.1143-1145T>C (n.1143-1145T>C)
c.1167T>C (p.Asp389=)
9g.99146509T>GCA374232721TGFBR1c.948T>G (p.Asp316Glu)
c.960T>G (p.Asp320Glu)
c.*77T>G (n.*77T>G)
c.717T>G (p.Asp239Glu)
c.*951T>G (n.*951T>G)
c.1155T>G (p.Asp385Glu)
c.924T>G (p.Asp308Glu)
c.1143-1145T>G (n.1143-1145T>G)
c.1167T>G (p.Asp389Glu)
9g.99146510G>ACA374232722TGFBR1c.949G>A (p.Asp317Asn)
c.961G>A (p.Asp321Asn)
c.*78G>A (n.*78G>A)
c.718G>A (p.Asp240Asn)
c.*952G>A (n.*952G>A)
c.1156G>A (p.Asp386Asn)
c.925G>A (p.Asp309Asn)
c.1143-1144G>A (n.1143-1144G>A)
c.1168G>A (p.Asp390Asn)
9g.99146510G>CCA374232723TGFBR1c.949G>C (p.Asp317His)
c.961G>C (p.Asp321His)
c.*78G>C (n.*78G>C)
c.718G>C (p.Asp240His)
c.*952G>C (n.*952G>C)
c.1156G>C (p.Asp386His)
c.925G>C (p.Asp309His)
c.1143-1144G>C (n.1143-1144G>C)
c.1168G>C (p.Asp390His)
9g.99146510G>TCA374232725TGFBR1c.949G>T (p.Asp317Tyr)
c.961G>T (p.Asp321Tyr)
c.*78G>T (n.*78G>T)
c.718G>T (p.Asp240Tyr)
c.*952G>T (n.*952G>T)
c.1156G>T (p.Asp386Tyr)
c.925G>T (p.Asp309Tyr)
c.1143-1144G>T (n.1143-1144G>T)
c.1168G>T (p.Asp390Tyr)
9g.99146511A=CA1867263811TGFBR1c.950A= (p.Asp317=)
c.962A= (p.Asp321=)
c.*79A= (n.*79A=)
c.719A= (p.Asp240=)
c.*953A= (n.*953A=)
c.1157A= (p.Asp386=)
c.926A= (p.Asp309=)
c.1143-1143A= (n.1143-1143A=)
c.1169A= (p.Asp390=)
9g.99146511A>CCA374232731TGFBR1c.950A>C (p.Asp317Ala)
c.962A>C (p.Asp321Ala)
c.*79A>C (n.*79A>C)
c.719A>C (p.Asp240Ala)
c.*953A>C (n.*953A>C)
c.1157A>C (p.Asp386Ala)
c.926A>C (p.Asp309Ala)
c.1143-1143A>C (n.1143-1143A>C)
c.1169A>C (p.Asp390Ala)
9g.99146511A>GCA374232732TGFBR1c.950A>G (p.Asp317Gly)
c.962A>G (p.Asp321Gly)
c.*79A>G (n.*79A>G)
c.719A>G (p.Asp240Gly)
c.*953A>G (n.*953A>G)
c.1157A>G (p.Asp386Gly)
c.926A>G (p.Asp309Gly)
c.1143-1143A>G (n.1143-1143A>G)
c.1169A>G (p.Asp390Gly)
 ClinVar dbSNP
9g.99146511A>TCA374232733TGFBR1c.950A>T (p.Asp317Val)
c.962A>T (p.Asp321Val)
c.*79A>T (n.*79A>T)
c.719A>T (p.Asp240Val)
c.*953A>T (n.*953A>T)
c.1157A>T (p.Asp386Val)
c.926A>T (p.Asp309Val)
c.1143-1143A>T (n.1143-1143A>T)
c.1169A>T (p.Asp390Val)
9g.99146512T>ACA374232735TGFBR1c.951T>A (p.Asp317Glu)
c.963T>A (p.Asp321Glu)
c.*80T>A (n.*80T>A)
c.720T>A (p.Asp240Glu)
c.*954T>A (n.*954T>A)
c.1158T>A (p.Asp386Glu)
c.927T>A (p.Asp309Glu)
c.1143-1142T>A (n.1143-1142T>A)
c.1170T>A (p.Asp390Glu)
9g.99146512T>CCA466435275TGFBR1c.951T>C (p.Asp317=)
c.963T>C (p.Asp321=)
c.*80T>C (n.*80T>C)
c.720T>C (p.Asp240=)
c.*954T>C (n.*954T>C)
c.1158T>C (p.Asp386=)
c.927T>C (p.Asp309=)
c.1143-1142T>C (n.1143-1142T>C)
c.1170T>C (p.Asp390=)
9g.99146512T>GCA374232737TGFBR1c.951T>G (p.Asp317Glu)
c.963T>G (p.Asp321Glu)
c.*80T>G (n.*80T>G)
c.720T>G (p.Asp240Glu)
c.*954T>G (n.*954T>G)
c.1158T>G (p.Asp386Glu)
c.927T>G (p.Asp309Glu)
c.1143-1142T>G (n.1143-1142T>G)
c.1170T>G (p.Asp390Glu)
9g.99146513T>ACA374232739TGFBR1c.952T>A (p.Ser318Thr)
c.964T>A (p.Ser322Thr)
c.*81T>A (n.*81T>A)
c.721T>A (p.Ser241Thr)
c.*955T>A (n.*955T>A)
c.1159T>A (p.Ser387Thr)
c.928T>A (p.Ser310Thr)
c.1143-1141T>A (n.1143-1141T>A)
c.1171T>A (p.Ser391Thr)
9g.99146513T>CCA374232743TGFBR1c.952T>C (p.Ser318Pro)
c.964T>C (p.Ser322Pro)
c.*81T>C (n.*81T>C)
c.721T>C (p.Ser241Pro)
c.*955T>C (n.*955T>C)
c.1159T>C (p.Ser387Pro)
c.928T>C (p.Ser310Pro)
c.1143-1141T>C (n.1143-1141T>C)
c.1171T>C (p.Ser391Pro)
9g.99146513T>GCA374232741TGFBR1c.952T>G (p.Ser318Ala)
c.964T>G (p.Ser322Ala)
c.*81T>G (n.*81T>G)
c.721T>G (p.Ser241Ala)
c.*955T>G (n.*955T>G)
c.1159T>G (p.Ser387Ala)
c.928T>G (p.Ser310Ala)
c.1143-1141T>G (n.1143-1141T>G)
c.1171T>G (p.Ser391Ala)
9g.99146514C>ACA374232744TGFBR1c.953C>A (p.Ser318Tyr)
c.965C>A (p.Ser322Tyr)
c.*82C>A (n.*82C>A)
c.722C>A (p.Ser241Tyr)
c.*956C>A (n.*956C>A)
c.1160C>A (p.Ser387Tyr)
c.929C>A (p.Ser310Tyr)
c.1143-1140C>A (n.1143-1140C>A)
c.1172C>A (p.Ser391Tyr)
 dbSNP
9g.99146514C>GCA374232746TGFBR1c.953C>G (p.Ser318Cys)
c.965C>G (p.Ser322Cys)
c.*82C>G (n.*82C>G)
c.722C>G (p.Ser241Cys)
c.*956C>G (n.*956C>G)
c.1160C>G (p.Ser387Cys)
c.929C>G (p.Ser310Cys)
c.1143-1140C>G (n.1143-1140C>G)
c.1172C>G (p.Ser391Cys)
 dbSNP
9g.99146514C>TCA374232757TGFBR1c.953C>T (p.Ser318Phe)
c.965C>T (p.Ser322Phe)
c.*82C>T (n.*82C>T)
c.722C>T (p.Ser241Phe)
c.*956C>T (n.*956C>T)
c.1160C>T (p.Ser387Phe)
c.929C>T (p.Ser310Phe)
c.1143-1140C>T (n.1143-1140C>T)
c.1172C>T (p.Ser391Phe)
9g.99146515C>ACA466435280TGFBR1c.954C>A (p.Ser318=)
c.966C>A (p.Ser322=)
c.*83C>A (n.*83C>A)
c.723C>A (p.Ser241=)
c.*957C>A (n.*957C>A)
c.1161C>A (p.Ser387=)
c.930C>A (p.Ser310=)
c.1143-1139C>A (n.1143-1139C>A)
c.1173C>A (p.Ser391=)
9g.99146515C=CA1867263816TGFBR1c.954C= (p.Ser318=)
c.966C= (p.Ser322=)
c.*83C= (n.*83C=)
c.723C= (p.Ser241=)
c.*957C= (n.*957C=)
c.1161C= (p.Ser387=)
c.930C= (p.Ser310=)
c.1143-1139C= (n.1143-1139C=)
c.1173C= (p.Ser391=)
9g.99146515C>GCA466435281TGFBR1c.954C>G (p.Ser318=)
c.966C>G (p.Ser322=)
c.*83C>G (n.*83C>G)
c.723C>G (p.Ser241=)
c.*957C>G (n.*957C>G)
c.1161C>G (p.Ser387=)
c.930C>G (p.Ser310=)
c.1143-1139C>G (n.1143-1139C>G)
c.1173C>G (p.Ser391=)
9g.99146515C>TCA044208TGFBR1c.954C>T (p.Ser318=)
c.966C>T (p.Ser322=)
c.*83C>T (n.*83C>T)
c.723C>T (p.Ser241=)
c.*957C>T (n.*957C>T)
c.1161C>T (p.Ser387=)
c.930C>T (p.Ser310=)
c.1143-1139C>T (n.1143-1139C>T)
c.1173C>T (p.Ser391=)
 dbSNP ExAC gnomAD v4
9g.99146516A>CCA374232758TGFBR1c.955A>C (p.Ile319Leu)
c.967A>C (p.Ile323Leu)
c.*84A>C (n.*84A>C)
c.724A>C (p.Ile242Leu)
c.*958A>C (n.*958A>C)
c.1162A>C (p.Ile388Leu)
c.931A>C (p.Ile311Leu)
c.1143-1138A>C (n.1143-1138A>C)
c.1174A>C (p.Ile392Leu)
9g.99146516A>GCA374232759TGFBR1c.955A>G (p.Ile319Val)
c.967A>G (p.Ile323Val)
c.*84A>G (n.*84A>G)
c.724A>G (p.Ile242Val)
c.*958A>G (n.*958A>G)
c.1162A>G (p.Ile388Val)
c.931A>G (p.Ile311Val)
c.1143-1138A>G (n.1143-1138A>G)
c.1174A>G (p.Ile392Val)
9g.99146516A>TCA374232760TGFBR1c.955A>T (p.Ile319Leu)
c.967A>T (p.Ile323Leu)
c.*84A>T (n.*84A>T)
c.724A>T (p.Ile242Leu)
c.*958A>T (n.*958A>T)
c.1162A>T (p.Ile388Leu)
c.931A>T (p.Ile311Leu)
c.1143-1138A>T (n.1143-1138A>T)
c.1174A>T (p.Ile392Leu)
9g.99146517T>ACA374232761TGFBR1c.956T>A (p.Ile319Lys)
c.968T>A (p.Ile323Lys)
c.*85T>A (n.*85T>A)
c.725T>A (p.Ile242Lys)
c.*959T>A (n.*959T>A)
c.1163T>A (p.Ile388Lys)
c.932T>A (p.Ile311Lys)
c.1143-1137T>A (n.1143-1137T>A)
c.1175T>A (p.Ile392Lys)
9g.99146517T>CCA374232762TGFBR1c.956T>C (p.Ile319Thr)
c.968T>C (p.Ile323Thr)
c.*85T>C (n.*85T>C)
c.725T>C (p.Ile242Thr)
c.*959T>C (n.*959T>C)
c.1163T>C (p.Ile388Thr)
c.932T>C (p.Ile311Thr)
c.1143-1137T>C (n.1143-1137T>C)
c.1175T>C (p.Ile392Thr)
 gnomAD v4
9g.99146517T>GCA374232763TGFBR1c.956T>G (p.Ile319Arg)
c.968T>G (p.Ile323Arg)
c.*85T>G (n.*85T>G)
c.725T>G (p.Ile242Arg)
c.*959T>G (n.*959T>G)
c.1163T>G (p.Ile388Arg)
c.932T>G (p.Ile311Arg)
c.1143-1137T>G (n.1143-1137T>G)
c.1175T>G (p.Ile392Arg)
9g.99146518A>CCA466435283TGFBR1c.957A>C (p.Ile319=)
c.969A>C (p.Ile323=)
c.*86A>C (n.*86A>C)
c.726A>C (p.Ile242=)
c.*960A>C (n.*960A>C)
c.1164A>C (p.Ile388=)
c.933A>C (p.Ile311=)
c.1143-1136A>C (n.1143-1136A>C)
c.1176A>C (p.Ile392=)
9g.99146518A>GCA374232765TGFBR1c.957A>G (p.Ile319Met)
c.969A>G (p.Ile323Met)
c.*86A>G (n.*86A>G)
c.726A>G (p.Ile242Met)
c.*960A>G (n.*960A>G)
c.1164A>G (p.Ile388Met)
c.933A>G (p.Ile311Met)
c.1143-1136A>G (n.1143-1136A>G)
c.1176A>G (p.Ile392Met)
9g.99146518A>TCA466435287TGFBR1c.957A>T (p.Ile319=)
c.969A>T (p.Ile323=)
c.*86A>T (n.*86A>T)
c.726A>T (p.Ile242=)
c.*960A>T (n.*960A>T)
c.1164A>T (p.Ile388=)
c.933A>T (p.Ile311=)
c.1143-1136A>T (n.1143-1136A>T)
c.1176A>T (p.Ile392=)
9g.99146519A>CCA374232769TGFBR1c.958A>C (p.Asn320His)
c.970A>C (p.Asn324His)
c.*87A>C (n.*87A>C)
c.727A>C (p.Asn243His)
c.*961A>C (n.*961A>C)
c.1165A>C (p.Asn389His)
c.934A>C (p.Asn312His)
c.1143-1135A>C (n.1143-1135A>C)
c.1177A>C (p.Asn393His)
9g.99146519A>GCA374232771TGFBR1c.958A>G (p.Asn320Asp)
c.970A>G (p.Asn324Asp)
c.*87A>G (n.*87A>G)
c.727A>G (p.Asn243Asp)
c.*961A>G (n.*961A>G)
c.1165A>G (p.Asn389Asp)
c.934A>G (p.Asn312Asp)
c.1143-1135A>G (n.1143-1135A>G)
c.1177A>G (p.Asn393Asp)
 ClinVar
9g.99146519A>TCA374232767TGFBR1c.958A>T (p.Asn320Tyr)
c.970A>T (p.Asn324Tyr)
c.*87A>T (n.*87A>T)
c.727A>T (p.Asn243Tyr)
c.*961A>T (n.*961A>T)
c.1165A>T (p.Asn389Tyr)
c.934A>T (p.Asn312Tyr)
c.1143-1135A>T (n.1143-1135A>T)
c.1177A>T (p.Asn393Tyr)
9g.99146520A=CA1867263820TGFBR1c.959A= (p.Asn320=)
c.971A= (p.Asn324=)
c.*88A= (n.*88A=)
c.728A= (p.Asn243=)
c.*962A= (n.*962A=)
c.1166A= (p.Asn389=)
c.935A= (p.Asn312=)
c.1143-1134A= (n.1143-1134A=)
c.1178A= (p.Asn393=)
9g.99146520A>CCA374232775TGFBR1c.959A>C (p.Asn320Thr)
c.971A>C (p.Asn324Thr)
c.*88A>C (n.*88A>C)
c.728A>C (p.Asn243Thr)
c.*962A>C (n.*962A>C)
c.1166A>C (p.Asn389Thr)
c.935A>C (p.Asn312Thr)
c.1143-1134A>C (n.1143-1134A>C)
c.1178A>C (p.Asn393Thr)
9g.99146520A>GCA323179TGFBR1c.959A>G (p.Asn320Ser)
c.971A>G (p.Asn324Ser)
c.*88A>G (n.*88A>G)
c.728A>G (p.Asn243Ser)
c.*962A>G (n.*962A>G)
c.1166A>G (p.Asn389Ser)
c.935A>G (p.Asn312Ser)
c.1143-1134A>G (n.1143-1134A>G)
c.1178A>G (p.Asn393Ser)
 dbSNP gnomAD v2 gnomAD v4
9g.99146520A>TCA374232777TGFBR1c.959A>T (p.Asn320Ile)
c.971A>T (p.Asn324Ile)
c.*88A>T (n.*88A>T)
c.728A>T (p.Asn243Ile)
c.*962A>T (n.*962A>T)
c.1166A>T (p.Asn389Ile)
c.935A>T (p.Asn312Ile)
c.1143-1134A>T (n.1143-1134A>T)
c.1178A>T (p.Asn393Ile)
9g.99146521T>ACA374232779TGFBR1c.960T>A (p.Asn320Lys)
c.972T>A (p.Asn324Lys)
c.*89T>A (n.*89T>A)
c.729T>A (p.Asn243Lys)
c.*963T>A (n.*963T>A)
c.1167T>A (p.Asn389Lys)
c.936T>A (p.Asn312Lys)
c.1143-1133T>A (n.1143-1133T>A)
c.1179T>A (p.Asn393Lys)
9g.99146521T>CCA044223TGFBR1c.960T>C (p.Asn320=)
c.972T>C (p.Asn324=)
c.*89T>C (n.*89T>C)
c.729T>C (p.Asn243=)
c.*963T>C (n.*963T>C)
c.1167T>C (p.Asn389=)
c.936T>C (p.Asn312=)
c.1143-1133T>C (n.1143-1133T>C)
c.1179T>C (p.Asn393=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.99146521T>GCA374232783TGFBR1c.960T>G (p.Asn320Lys)
c.972T>G (p.Asn324Lys)
c.*89T>G (n.*89T>G)
c.729T>G (p.Asn243Lys)
c.*963T>G (n.*963T>G)
c.1167T>G (p.Asn389Lys)
c.936T>G (p.Asn312Lys)
c.1143-1133T>G (n.1143-1133T>G)
c.1179T>G (p.Asn393Lys)
9g.99146521T=CA1867263823TGFBR1c.960T= (p.Asn320=)
c.972T= (p.Asn324=)
c.*89T= (n.*89T=)
c.729T= (p.Asn243=)
c.*963T= (n.*963T=)
c.1167T= (p.Asn389=)
c.936T= (p.Asn312=)
c.1143-1133T= (n.1143-1133T=)
c.1179T= (p.Asn393=)
9g.99146522A>CCA374232785TGFBR1c.961A>C (p.Met321Leu)
c.973A>C (p.Met325Leu)
c.*90A>C (n.*90A>C)
c.730A>C (p.Met244Leu)
c.*964A>C (n.*964A>C)
c.1168A>C (p.Met390Leu)
c.937A>C (p.Met313Leu)
c.1143-1132A>C (n.1143-1132A>C)
c.1180A>C (p.Met394Leu)
9g.99146522A>GCA374232787TGFBR1c.961A>G (p.Met321Val)
c.973A>G (p.Met325Val)
c.*90A>G (n.*90A>G)
c.730A>G (p.Met244Val)
c.*964A>G (n.*964A>G)
c.1168A>G (p.Met390Val)
c.937A>G (p.Met313Val)
c.1143-1132A>G (n.1143-1132A>G)
c.1180A>G (p.Met394Val)
9g.99146522A>TCA374232790TGFBR1c.961A>T (p.Met321Leu)
c.973A>T (p.Met325Leu)
c.*90A>T (n.*90A>T)
c.730A>T (p.Met244Leu)
c.*964A>T (n.*964A>T)
c.1168A>T (p.Met390Leu)
c.937A>T (p.Met313Leu)
c.1143-1132A>T (n.1143-1132A>T)
c.1180A>T (p.Met394Leu)
9g.99146523T>ACA374232791TGFBR1c.962T>A (p.Met321Lys)
c.974T>A (p.Met325Lys)
c.*91T>A (n.*91T>A)
c.731T>A (p.Met244Lys)
c.*965T>A (n.*965T>A)
c.1169T>A (p.Met390Lys)
c.938T>A (p.Met313Lys)
c.1143-1131T>A (n.1143-1131T>A)
c.1181T>A (p.Met394Lys)
9g.99146523T>CCA044231TGFBR1c.962T>C (p.Met321Thr)
c.974T>C (p.Met325Thr)
c.*91T>C (n.*91T>C)
c.731T>C (p.Met244Thr)
c.*965T>C (n.*965T>C)
c.1169T>C (p.Met390Thr)
c.938T>C (p.Met313Thr)
c.1143-1131T>C (n.1143-1131T>C)
c.1181T>C (p.Met394Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.99146523T>GCA374232796TGFBR1c.962T>G (p.Met321Arg)
c.974T>G (p.Met325Arg)
c.*91T>G (n.*91T>G)
c.731T>G (p.Met244Arg)
c.*965T>G (n.*965T>G)
c.1169T>G (p.Met390Arg)
c.938T>G (p.Met313Arg)
c.1143-1131T>G (n.1143-1131T>G)
c.1181T>G (p.Met394Arg)
9g.99146523T=CA1867263825TGFBR1c.962T= (p.Met321=)
c.974T= (p.Met325=)
c.*91T= (n.*91T=)
c.731T= (p.Met244=)
c.*965T= (n.*965T=)
c.1169T= (p.Met390=)
c.938T= (p.Met313=)
c.1143-1131T= (n.1143-1131T=)
c.1181T= (p.Met394=)
9g.99146524G>ACA374232797TGFBR1c.963G>A (p.Met321Ile)
c.975G>A (p.Met325Ile)
c.*92G>A (n.*92G>A)
c.732G>A (p.Met244Ile)
c.*966G>A (n.*966G>A)
c.1170G>A (p.Met390Ile)
c.939G>A (p.Met313Ile)
c.1143-1130G>A (n.1143-1130G>A)
c.1182G>A (p.Met394Ile)
9g.99146524G>CCA374232799TGFBR1c.963G>C (p.Met321Ile)
c.975G>C (p.Met325Ile)
c.*92G>C (n.*92G>C)
c.732G>C (p.Met244Ile)
c.*966G>C (n.*966G>C)
c.1170G>C (p.Met390Ile)
c.939G>C (p.Met313Ile)
c.1143-1130G>C (n.1143-1130G>C)
c.1182G>C (p.Met394Ile)
9g.99146524G>TCA374232801TGFBR1c.963G>T (p.Met321Ile)
c.975G>T (p.Met325Ile)
c.*92G>T (n.*92G>T)
c.732G>T (p.Met244Ile)
c.*966G>T (n.*966G>T)
c.1170G>T (p.Met390Ile)
c.939G>T (p.Met313Ile)
c.1143-1130G>T (n.1143-1130G>T)
c.1182G>T (p.Met394Ile)
9g.99146525A>CCA374232807TGFBR1c.964A>C (p.Lys322Gln)
c.976A>C (p.Lys326Gln)
c.*93A>C (n.*93A>C)
c.733A>C (p.Lys245Gln)
c.*967A>C (n.*967A>C)
c.1171A>C (p.Lys391Gln)
c.940A>C (p.Lys314Gln)
c.1143-1129A>C (n.1143-1129A>C)
c.1183A>C (p.Lys395Gln)
9g.99146525A>GCA374232804TGFBR1c.964A>G (p.Lys322Glu)
c.976A>G (p.Lys326Glu)
c.*93A>G (n.*93A>G)
c.733A>G (p.Lys245Glu)
c.*967A>G (n.*967A>G)
c.1171A>G (p.Lys391Glu)
c.940A>G (p.Lys314Glu)
c.1143-1129A>G (n.1143-1129A>G)
c.1183A>G (p.Lys395Glu)
9g.99146525A>TCA374232803TGFBR1c.964A>T (p.Lys322Ter)
c.976A>T (p.Lys326Ter)
c.*93A>T (n.*93A>T)
c.733A>T (p.Lys245Ter)
c.*967A>T (n.*967A>T)
c.1171A>T (p.Lys391Ter)
c.940A>T (p.Lys314Ter)
c.1143-1129A>T (n.1143-1129A>T)
c.1183A>T (p.Lys395Ter)
9g.99146526A=CA1867263827TGFBR1c.965A= (p.Lys322=)
c.977A= (p.Lys326=)
c.*94A= (n.*94A=)
c.734A= (p.Lys245=)
c.*968A= (n.*968A=)
c.1172A= (p.Lys391=)
c.941A= (p.Lys314=)
c.1143-1128A= (n.1143-1128A=)
c.1184A= (p.Lys395=)
9g.99146526A>CCA374232810TGFBR1c.965A>C (p.Lys322Thr)
c.977A>C (p.Lys326Thr)
c.*94A>C (n.*94A>C)
c.734A>C (p.Lys245Thr)
c.*968A>C (n.*968A>C)
c.1172A>C (p.Lys391Thr)
c.941A>C (p.Lys314Thr)
c.1143-1128A>C (n.1143-1128A>C)
c.1184A>C (p.Lys395Thr)
9g.99146526A>GCA374232812TGFBR1c.965A>G (p.Lys322Arg)
c.977A>G (p.Lys326Arg)
c.*94A>G (n.*94A>G)
c.734A>G (p.Lys245Arg)
c.*968A>G (n.*968A>G)
c.1172A>G (p.Lys391Arg)
c.941A>G (p.Lys314Arg)
c.1143-1128A>G (n.1143-1128A>G)
c.1184A>G (p.Lys395Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.99146526A>TCA374232813TGFBR1c.965A>T (p.Lys322Ile)
c.977A>T (p.Lys326Ile)
c.*94A>T (n.*94A>T)
c.734A>T (p.Lys245Ile)
c.*968A>T (n.*968A>T)
c.1172A>T (p.Lys391Ile)
c.941A>T (p.Lys314Ile)
c.1143-1128A>T (n.1143-1128A>T)
c.1184A>T (p.Lys395Ile)
9g.99146527A>CCA374232816TGFBR1c.966A>C (p.Lys322Asn)
c.978A>C (p.Lys326Asn)
c.*95A>C (n.*95A>C)
c.735A>C (p.Lys245Asn)
c.*969A>C (n.*969A>C)
c.1173A>C (p.Lys391Asn)
c.942A>C (p.Lys314Asn)
c.1143-1127A>C (n.1143-1127A>C)
c.1185A>C (p.Lys395Asn)
9g.99146527A>GCA466435296TGFBR1c.966A>G (p.Lys322=)
c.978A>G (p.Lys326=)
c.*95A>G (n.*95A>G)
c.735A>G (p.Lys245=)
c.*969A>G (n.*969A>G)
c.1173A>G (p.Lys391=)
c.942A>G (p.Lys314=)
c.1143-1127A>G (n.1143-1127A>G)
c.1185A>G (p.Lys395=)
 ClinVar
9g.99146527A>TCA374232817TGFBR1c.966A>T (p.Lys322Asn)
c.978A>T (p.Lys326Asn)
c.*95A>T (n.*95A>T)
c.735A>T (p.Lys245Asn)
c.*969A>T (n.*969A>T)
c.1173A>T (p.Lys391Asn)
c.942A>T (p.Lys314Asn)
c.1143-1127A>T (n.1143-1127A>T)
c.1185A>T (p.Lys395Asn)
 gnomAD v4
9g.99146528C>ACA374232819TGFBR1c.967C>A (p.His323Asn)
c.979C>A (p.His327Asn)
c.*96C>A (n.*96C>A)
c.736C>A (p.His246Asn)
c.*970C>A (n.*970C>A)
c.1174C>A (p.His392Asn)
c.943C>A (p.His315Asn)
c.1143-1126C>A (n.1143-1126C>A)
c.1186C>A (p.His396Asn)
 gnomAD v4
9g.99146528C>GCA374232821TGFBR1c.967C>G (p.His323Asp)
c.979C>G (p.His327Asp)
c.*96C>G (n.*96C>G)
c.736C>G (p.His246Asp)
c.*970C>G (n.*970C>G)
c.1174C>G (p.His392Asp)
c.943C>G (p.His315Asp)
c.1143-1126C>G (n.1143-1126C>G)
c.1186C>G (p.His396Asp)
9g.99146528C>TCA374232824TGFBR1c.967C>T (p.His323Tyr)
c.979C>T (p.His327Tyr)
c.*96C>T (n.*96C>T)
c.736C>T (p.His246Tyr)
c.*970C>T (n.*970C>T)
c.1174C>T (p.His392Tyr)
c.943C>T (p.His315Tyr)
c.1143-1126C>T (n.1143-1126C>T)
c.1186C>T (p.His396Tyr)
9g.99146529A>CCA374232829TGFBR1c.968A>C (p.His323Pro)
c.980A>C (p.His327Pro)
c.*97A>C (n.*97A>C)
c.737A>C (p.His246Pro)
c.*971A>C (n.*971A>C)
c.1175A>C (p.His392Pro)
c.944A>C (p.His315Pro)
c.1143-1125A>C (n.1143-1125A>C)
c.1187A>C (p.His396Pro)
9g.99146529A>GCA374232830TGFBR1c.968A>G (p.His323Arg)
c.980A>G (p.His327Arg)
c.*97A>G (n.*97A>G)
c.737A>G (p.His246Arg)
c.*971A>G (n.*971A>G)
c.1175A>G (p.His392Arg)
c.944A>G (p.His315Arg)
c.1143-1125A>G (n.1143-1125A>G)
c.1187A>G (p.His396Arg)
9g.99146529A>TCA374232832TGFBR1c.968A>T (p.His323Leu)
c.980A>T (p.His327Leu)
c.*97A>T (n.*97A>T)
c.737A>T (p.His246Leu)
c.*971A>T (n.*971A>T)
c.1175A>T (p.His392Leu)
c.944A>T (p.His315Leu)
c.1143-1125A>T (n.1143-1125A>T)
c.1187A>T (p.His396Leu)
9g.99146530T>ACA374232835TGFBR1c.969T>A (p.His323Gln)
c.981T>A (p.His327Gln)
c.*98T>A (n.*98T>A)
c.738T>A (p.His246Gln)
c.*972T>A (n.*972T>A)
c.1176T>A (p.His392Gln)
c.945T>A (p.His315Gln)
c.1143-1124T>A (n.1143-1124T>A)
c.1188T>A (p.His396Gln)
9g.99146530T>CCA466435305TGFBR1c.969T>C (p.His323=)
c.981T>C (p.His327=)
c.*98T>C (n.*98T>C)
c.738T>C (p.His246=)
c.*972T>C (n.*972T>C)
c.1176T>C (p.His392=)
c.945T>C (p.His315=)
c.1143-1124T>C (n.1143-1124T>C)
c.1188T>C (p.His396=)
9g.99146530T>GCA374232837TGFBR1c.969T>G (p.His323Gln)
c.981T>G (p.His327Gln)
c.*98T>G (n.*98T>G)
c.738T>G (p.His246Gln)
c.*972T>G (n.*972T>G)
c.1176T>G (p.His392Gln)
c.945T>G (p.His315Gln)
c.1143-1124T>G (n.1143-1124T>G)
c.1188T>G (p.His396Gln)
9g.99146531T>ACA374232841TGFBR1c.970T>A (p.Phe324Ile)
c.982T>A (p.Phe328Ile)
c.*99T>A (n.*99T>A)
c.739T>A (p.Phe247Ile)
c.*973T>A (n.*973T>A)
c.1177T>A (p.Phe393Ile)
c.946T>A (p.Phe316Ile)
c.1143-1123T>A (n.1143-1123T>A)
c.1189T>A (p.Phe397Ile)
9g.99146531T>CCA374232839TGFBR1c.970T>C (p.Phe324Leu)
c.982T>C (p.Phe328Leu)
c.*99T>C (n.*99T>C)
c.739T>C (p.Phe247Leu)
c.*973T>C (n.*973T>C)
c.1177T>C (p.Phe393Leu)
c.946T>C (p.Phe316Leu)
c.1143-1123T>C (n.1143-1123T>C)
c.1189T>C (p.Phe397Leu)
9g.99146531T>GCA374232838TGFBR1c.970T>G (p.Phe324Val)
c.982T>G (p.Phe328Val)
c.*99T>G (n.*99T>G)
c.739T>G (p.Phe247Val)
c.*973T>G (n.*973T>G)
c.1177T>G (p.Phe393Val)
c.946T>G (p.Phe316Val)
c.1143-1123T>G (n.1143-1123T>G)
c.1189T>G (p.Phe397Val)
9g.99146532T>ACA374232850TGFBR1c.971T>A (p.Phe324Tyr)
c.983T>A (p.Phe328Tyr)
c.*100T>A (n.*100T>A)
c.740T>A (p.Phe247Tyr)
c.*974T>A (n.*974T>A)
c.1178T>A (p.Phe393Tyr)
c.947T>A (p.Phe316Tyr)
c.1143-1122T>A (n.1143-1122T>A)
c.1190T>A (p.Phe397Tyr)
9g.99146532T>CCA374232844TGFBR1c.971T>C (p.Phe324Ser)
c.983T>C (p.Phe328Ser)
c.*100T>C (n.*100T>C)
c.740T>C (p.Phe247Ser)
c.*974T>C (n.*974T>C)
c.1178T>C (p.Phe393Ser)
c.947T>C (p.Phe316Ser)
c.1143-1122T>C (n.1143-1122T>C)
c.1190T>C (p.Phe397Ser)
9g.99146532T>GCA374232846TGFBR1c.971T>G (p.Phe324Cys)
c.983T>G (p.Phe328Cys)
c.*100T>G (n.*100T>G)
c.740T>G (p.Phe247Cys)
c.*974T>G (n.*974T>G)
c.1178T>G (p.Phe393Cys)
c.947T>G (p.Phe316Cys)
c.1143-1122T>G (n.1143-1122T>G)
c.1190T>G (p.Phe397Cys)
9g.99146533T>ACA374232854TGFBR1c.972T>A (p.Phe324Leu)
c.984T>A (p.Phe328Leu)
c.*101T>A (n.*101T>A)
c.741T>A (p.Phe247Leu)
c.*975T>A (n.*975T>A)
c.1179T>A (p.Phe393Leu)
c.948T>A (p.Phe316Leu)
c.1143-1121T>A (n.1143-1121T>A)
c.1191T>A (p.Phe397Leu)
9g.99146533T>CCA466435309TGFBR1c.972T>C (p.Phe324=)
c.984T>C (p.Phe328=)
c.*101T>C (n.*101T>C)
c.741T>C (p.Phe247=)
c.*975T>C (n.*975T>C)
c.1179T>C (p.Phe393=)
c.948T>C (p.Phe316=)
c.1143-1121T>C (n.1143-1121T>C)
c.1191T>C (p.Phe397=)
9g.99146533T>GCA374232857TGFBR1c.972T>G (p.Phe324Leu)
c.984T>G (p.Phe328Leu)
c.*101T>G (n.*101T>G)
c.741T>G (p.Phe247Leu)
c.*975T>G (n.*975T>G)
c.1179T>G (p.Phe393Leu)
c.948T>G (p.Phe316Leu)
c.1143-1121T>G (n.1143-1121T>G)
c.1191T>G (p.Phe397Leu)
 COSMIC
9g.99146534G>ACA374232859TGFBR1c.973G>A (p.Glu325Lys)
c.985G>A (p.Glu329Lys)
c.*102G>A (n.*102G>A)
c.742G>A (p.Glu248Lys)
c.*976G>A (n.*976G>A)
c.1180G>A (p.Glu394Lys)
c.949G>A (p.Glu317Lys)
c.1143-1120G>A (n.1143-1120G>A)
c.1192G>A (p.Glu398Lys)
 ClinVar dbSNP
9g.99146534G>CCA374232861TGFBR1c.973G>C (p.Glu325Gln)
c.985G>C (p.Glu329Gln)
c.*102G>C (n.*102G>C)
c.742G>C (p.Glu248Gln)
c.*976G>C (n.*976G>C)
c.1180G>C (p.Glu394Gln)
c.949G>C (p.Glu317Gln)
c.1143-1120G>C (n.1143-1120G>C)
c.1192G>C (p.Glu398Gln)
9g.99146534G=CA1867263833TGFBR1c.973G= (p.Glu325=)
c.985G= (p.Glu329=)
c.*102G= (n.*102G=)
c.742G= (p.Glu248=)
c.*976G= (n.*976G=)
c.1180G= (p.Glu394=)
c.949G= (p.Glu317=)
c.1143-1120G= (n.1143-1120G=)
c.1192G= (p.Glu398=)
9g.99146534G>TCA374232863TGFBR1c.973G>T (p.Glu325Ter)
c.985G>T (p.Glu329Ter)
c.*102G>T (n.*102G>T)
c.742G>T (p.Glu248Ter)
c.*976G>T (n.*976G>T)
c.1180G>T (p.Glu394Ter)
c.949G>T (p.Glu317Ter)
c.1143-1120G>T (n.1143-1120G>T)
c.1192G>T (p.Glu398Ter)
9g.99146535A>CCA374232865TGFBR1c.974A>C (p.Glu325Ala)
c.986A>C (p.Glu329Ala)
c.*103A>C (n.*103A>C)
c.743A>C (p.Glu248Ala)
c.*977A>C (n.*977A>C)
c.1181A>C (p.Glu394Ala)
c.950A>C (p.Glu317Ala)
c.1143-1119A>C (n.1143-1119A>C)
c.1193A>C (p.Glu398Ala)
9g.99146535A>GCA374232867TGFBR1c.974A>G (p.Glu325Gly)
c.986A>G (p.Glu329Gly)
c.*103A>G (n.*103A>G)
c.743A>G (p.Glu248Gly)
c.*977A>G (n.*977A>G)
c.1181A>G (p.Glu394Gly)
c.950A>G (p.Glu317Gly)
c.1143-1119A>G (n.1143-1119A>G)
c.1193A>G (p.Glu398Gly)
9g.99146535A>TCA374232870TGFBR1c.974A>T (p.Glu325Val)
c.986A>T (p.Glu329Val)
c.*103A>T (n.*103A>T)
c.743A>T (p.Glu248Val)
c.*977A>T (n.*977A>T)
c.1181A>T (p.Glu394Val)
c.950A>T (p.Glu317Val)
c.1143-1119A>T (n.1143-1119A>T)
c.1193A>T (p.Glu398Val)
9g.99146536A=CA1867263839TGFBR1c.975A= (p.Glu325=)
c.987A= (p.Glu329=)
c.*104A= (n.*104A=)
c.744A= (p.Glu248=)
c.*978A= (n.*978A=)
c.1182A= (p.Glu394=)
c.951A= (p.Glu317=)
c.1143-1118A= (n.1143-1118A=)
c.1194A= (p.Glu398=)
9g.99146536A>CCA374232874TGFBR1c.975A>C (p.Glu325Asp)
c.987A>C (p.Glu329Asp)
c.*104A>C (n.*104A>C)
c.744A>C (p.Glu248Asp)
c.*978A>C (n.*978A>C)
c.1182A>C (p.Glu394Asp)
c.951A>C (p.Glu317Asp)
c.1143-1118A>C (n.1143-1118A>C)
c.1194A>C (p.Glu398Asp)
9g.99146536A>GCA466435316TGFBR1c.975A>G (p.Glu325=)
c.987A>G (p.Glu329=)
c.*104A>G (n.*104A>G)
c.744A>G (p.Glu248=)
c.*978A>G (n.*978A>G)
c.1182A>G (p.Glu394=)
c.951A>G (p.Glu317=)
c.1143-1118A>G (n.1143-1118A>G)
c.1194A>G (p.Glu398=)
 dbSNP gnomAD v4
9g.99146536A>TCA374232875TGFBR1c.975A>T (p.Glu325Asp)
c.987A>T (p.Glu329Asp)
c.*104A>T (n.*104A>T)
c.744A>T (p.Glu248Asp)
c.*978A>T (n.*978A>T)
c.1182A>T (p.Glu394Asp)
c.951A>T (p.Glu317Asp)
c.1143-1118A>T (n.1143-1118A>T)
c.1194A>T (p.Glu398Asp)
9g.99146537T>ACA374232884TGFBR1c.976T>A (p.Ser326Thr)
c.988T>A (p.Ser330Thr)
c.*105T>A (n.*105T>A)
c.745T>A (p.Ser249Thr)
c.*979T>A (n.*979T>A)
c.1183T>A (p.Ser395Thr)
c.952T>A (p.Ser318Thr)
c.1143-1117T>A (n.1143-1117T>A)
c.1195T>A (p.Ser399Thr)
 dbSNP
9g.99146537T>CCA374232886TGFBR1c.976T>C (p.Ser326Pro)
c.988T>C (p.Ser330Pro)
c.*105T>C (n.*105T>C)
c.745T>C (p.Ser249Pro)
c.*979T>C (n.*979T>C)
c.1183T>C (p.Ser395Pro)
c.952T>C (p.Ser318Pro)
c.1143-1117T>C (n.1143-1117T>C)
c.1195T>C (p.Ser399Pro)
 ClinVar
9g.99146537T>GCA374232881TGFBR1c.976T>G (p.Ser326Ala)
c.988T>G (p.Ser330Ala)
c.*105T>G (n.*105T>G)
c.745T>G (p.Ser249Ala)
c.*979T>G (n.*979T>G)
c.1183T>G (p.Ser395Ala)
c.952T>G (p.Ser318Ala)
c.1143-1117T>G (n.1143-1117T>G)
c.1195T>G (p.Ser399Ala)
9g.99146537T=CA1867263844TGFBR1c.976T= (p.Ser326=)
c.988T= (p.Ser330=)
c.*105T= (n.*105T=)
c.745T= (p.Ser249=)
c.*979T= (n.*979T=)
c.1183T= (p.Ser395=)
c.952T= (p.Ser318=)
c.1143-1117T= (n.1143-1117T=)
c.1195T= (p.Ser399=)
9g.99146538C>ACA374232890TGFBR1c.977C>A (p.Ser326Tyr)
c.989C>A (p.Ser330Tyr)
c.*106C>A (n.*106C>A)
c.746C>A (p.Ser249Tyr)
c.*980C>A (n.*980C>A)
c.1184C>A (p.Ser395Tyr)
c.953C>A (p.Ser318Tyr)
c.1143-1116C>A (n.1143-1116C>A)
c.1196C>A (p.Ser399Tyr)
9g.99146538C>GCA374232893TGFBR1c.977C>G (p.Ser326Cys)
c.989C>G (p.Ser330Cys)
c.*106C>G (n.*106C>G)
c.746C>G (p.Ser249Cys)
c.*980C>G (n.*980C>G)
c.1184C>G (p.Ser395Cys)
c.953C>G (p.Ser318Cys)
c.1143-1116C>G (n.1143-1116C>G)
c.1196C>G (p.Ser399Cys)
9g.99146538C>TCA374232897TGFBR1c.977C>T (p.Ser326Phe)
c.989C>T (p.Ser330Phe)
c.*106C>T (n.*106C>T)
c.746C>T (p.Ser249Phe)
c.*980C>T (n.*980C>T)
c.1184C>T (p.Ser395Phe)
c.953C>T (p.Ser318Phe)
c.1143-1116C>T (n.1143-1116C>T)
c.1196C>T (p.Ser399Phe)
9g.99146539C>ACA466435324TGFBR1c.978C>A (p.Ser326=)
c.990C>A (p.Ser330=)
c.*107C>A (n.*107C>A)
c.747C>A (p.Ser249=)
c.*981C>A (n.*981C>A)
c.1185C>A (p.Ser395=)
c.954C>A (p.Ser318=)
c.1143-1115C>A (n.1143-1115C>A)
c.1197C>A (p.Ser399=)
 dbSNP
9g.99146539C>GCA466435327TGFBR1c.978C>G (p.Ser326=)
c.990C>G (p.Ser330=)
c.*107C>G (n.*107C>G)
c.747C>G (p.Ser249=)
c.*981C>G (n.*981C>G)
c.1185C>G (p.Ser395=)
c.954C>G (p.Ser318=)
c.1143-1115C>G (n.1143-1115C>G)
c.1197C>G (p.Ser399=)
9g.99146539C>TCA466435328TGFBR1c.978C>T (p.Ser326=)
c.990C>T (p.Ser330=)
c.*107C>T (n.*107C>T)
c.747C>T (p.Ser249=)
c.*981C>T (n.*981C>T)
c.1185C>T (p.Ser395=)
c.954C>T (p.Ser318=)
c.1143-1115C>T (n.1143-1115C>T)
c.1197C>T (p.Ser399=)
9g.99146540T>ACA374232902TGFBR1c.979T>A (p.Phe327Ile)
c.991T>A (p.Phe331Ile)
c.*108T>A (n.*108T>A)
c.748T>A (p.Phe250Ile)
c.*982T>A (n.*982T>A)
c.1186T>A (p.Phe396Ile)
c.955T>A (p.Phe319Ile)
c.1143-1114T>A (n.1143-1114T>A)
c.1198T>A (p.Phe400Ile)
9g.99146540T>CCA374232903TGFBR1c.979T>C (p.Phe327Leu)
c.991T>C (p.Phe331Leu)
c.*108T>C (n.*108T>C)
c.748T>C (p.Phe250Leu)
c.*982T>C (n.*982T>C)
c.1186T>C (p.Phe396Leu)
c.955T>C (p.Phe319Leu)
c.1143-1114T>C (n.1143-1114T>C)
c.1198T>C (p.Phe400Leu)
9g.99146540T>GCA044241TGFBR1c.979T>G (p.Phe327Val)
c.991T>G (p.Phe331Val)
c.*108T>G (n.*108T>G)
c.748T>G (p.Phe250Val)
c.*982T>G (n.*982T>G)
c.1186T>G (p.Phe396Val)
c.955T>G (p.Phe319Val)
c.1143-1114T>G (n.1143-1114T>G)
c.1198T>G (p.Phe400Val)
 dbSNP ExAC gnomAD v2
9g.99146540T=CA1867263846TGFBR1c.979T= (p.Phe327=)
c.991T= (p.Phe331=)
c.*108T= (n.*108T=)
c.748T= (p.Phe250=)
c.*982T= (n.*982T=)
c.1186T= (p.Phe396=)
c.955T= (p.Phe319=)
c.1143-1114T= (n.1143-1114T=)
c.1198T= (p.Phe400=)
9g.99146541T>ACA374232907TGFBR1c.980T>A (p.Phe327Tyr)
c.992T>A (p.Phe331Tyr)
c.*109T>A (n.*109T>A)
c.749T>A (p.Phe250Tyr)
c.*983T>A (n.*983T>A)
c.1187T>A (p.Phe396Tyr)
c.956T>A (p.Phe319Tyr)
c.1143-1113T>A (n.1143-1113T>A)
c.1199T>A (p.Phe400Tyr)
9g.99146541T>CCA374232911TGFBR1c.980T>C (p.Phe327Ser)
c.992T>C (p.Phe331Ser)
c.*109T>C (n.*109T>C)
c.749T>C (p.Phe250Ser)
c.*983T>C (n.*983T>C)
c.1187T>C (p.Phe396Ser)
c.956T>C (p.Phe319Ser)
c.1143-1113T>C (n.1143-1113T>C)
c.1199T>C (p.Phe400Ser)
9g.99146541T>GCA374232909TGFBR1c.980T>G (p.Phe327Cys)
c.992T>G (p.Phe331Cys)
c.*109T>G (n.*109T>G)
c.749T>G (p.Phe250Cys)
c.*983T>G (n.*983T>G)
c.1187T>G (p.Phe396Cys)
c.956T>G (p.Phe319Cys)
c.1143-1113T>G (n.1143-1113T>G)
c.1199T>G (p.Phe400Cys)
9g.99146542C>ACA374232914TGFBR1c.981C>A (p.Phe327Leu)
c.993C>A (p.Phe331Leu)
c.*110C>A (n.*110C>A)
c.750C>A (p.Phe250Leu)
c.*984C>A (n.*984C>A)
c.1188C>A (p.Phe396Leu)
c.957C>A (p.Phe319Leu)
c.1143-1112C>A (n.1143-1112C>A)
c.1200C>A (p.Phe400Leu)
 gnomAD v4
9g.99146542C>GCA374232917TGFBR1c.981C>G (p.Phe327Leu)
c.993C>G (p.Phe331Leu)
c.*110C>G (n.*110C>G)
c.750C>G (p.Phe250Leu)
c.*984C>G (n.*984C>G)
c.1188C>G (p.Phe396Leu)
c.957C>G (p.Phe319Leu)
c.1143-1112C>G (n.1143-1112C>G)
c.1200C>G (p.Phe400Leu)
 COSMIC
9g.99146542C>TCA466435332TGFBR1c.981C>T (p.Phe327=)
c.993C>T (p.Phe331=)
c.*110C>T (n.*110C>T)
c.750C>T (p.Phe250=)
c.*984C>T (n.*984C>T)
c.1188C>T (p.Phe396=)
c.957C>T (p.Phe319=)
c.1143-1112C>T (n.1143-1112C>T)
c.1200C>T (p.Phe400=)
9g.99146543A>CCA374232920TGFBR1c.982A>C (p.Lys328Gln)
c.994A>C (p.Lys332Gln)
c.*111A>C (n.*111A>C)
c.751A>C (p.Lys251Gln)
c.*985A>C (n.*985A>C)
c.1189A>C (p.Lys397Gln)
c.958A>C (p.Lys320Gln)
c.1143-1111A>C (n.1143-1111A>C)
c.1201A>C (p.Lys401Gln)
9g.99146543A>GCA374232921TGFBR1c.982A>G (p.Lys328Glu)
c.994A>G (p.Lys332Glu)
c.*111A>G (n.*111A>G)
c.751A>G (p.Lys251Glu)
c.*985A>G (n.*985A>G)
c.1189A>G (p.Lys397Glu)
c.958A>G (p.Lys320Glu)
c.1143-1111A>G (n.1143-1111A>G)
c.1201A>G (p.Lys401Glu)
9g.99146543A>TCA374232922TGFBR1c.982A>T (p.Lys328Ter)
c.994A>T (p.Lys332Ter)
c.*111A>T (n.*111A>T)
c.751A>T (p.Lys251Ter)
c.*985A>T (n.*985A>T)
c.1189A>T (p.Lys397Ter)
c.958A>T (p.Lys320Ter)
c.1143-1111A>T (n.1143-1111A>T)
c.1201A>T (p.Lys401Ter)
 ClinVar
9g.99146544A=CA1867263853TGFBR1c.983A= (p.Lys328=)
c.995A= (p.Lys332=)
c.*112A= (n.*112A=)
c.752A= (p.Lys251=)
c.*986A= (n.*986A=)
c.1190A= (p.Lys397=)
c.959A= (p.Lys320=)
c.1143-1110A= (n.1143-1110A=)
c.1202A= (p.Lys401=)
9g.99146544A>CCA374232924TGFBR1c.983A>C (p.Lys328Thr)
c.995A>C (p.Lys332Thr)
c.*112A>C (n.*112A>C)
c.752A>C (p.Lys251Thr)
c.*986A>C (n.*986A>C)
c.1190A>C (p.Lys397Thr)
c.959A>C (p.Lys320Thr)
c.1143-1110A>C (n.1143-1110A>C)
c.1202A>C (p.Lys401Thr)
9g.99146544A>GCA196894159TGFBR1c.983A>G (p.Lys328Arg)
c.995A>G (p.Lys332Arg)
c.*112A>G (n.*112A>G)
c.752A>G (p.Lys251Arg)
c.*986A>G (n.*986A>G)
c.1190A>G (p.Lys397Arg)
c.959A>G (p.Lys320Arg)
c.1143-1110A>G (n.1143-1110A>G)
c.1202A>G (p.Lys401Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.99146544A>TCA374232923TGFBR1c.983A>T (p.Lys328Ile)
c.995A>T (p.Lys332Ile)
c.*112A>T (n.*112A>T)
c.752A>T (p.Lys251Ile)
c.*986A>T (n.*986A>T)
c.1190A>T (p.Lys397Ile)
c.959A>T (p.Lys320Ile)
c.1143-1110A>T (n.1143-1110A>T)
c.1202A>T (p.Lys401Ile)
9g.99146545A>CCA374232925TGFBR1c.984A>C (p.Lys328Asn)
c.996A>C (p.Lys332Asn)
c.*113A>C (n.*113A>C)
c.753A>C (p.Lys251Asn)
c.*987A>C (n.*987A>C)
c.1191A>C (p.Lys397Asn)
c.960A>C (p.Lys320Asn)
c.1143-1109A>C (n.1143-1109A>C)
c.1203A>C (p.Lys401Asn)
9g.99146545A>GCA466435338TGFBR1c.984A>G (p.Lys328=)
c.996A>G (p.Lys332=)
c.*113A>G (n.*113A>G)
c.753A>G (p.Lys251=)
c.*987A>G (n.*987A>G)
c.1191A>G (p.Lys397=)
c.960A>G (p.Lys320=)
c.1143-1109A>G (n.1143-1109A>G)
c.1203A>G (p.Lys401=)
9g.99146545A>TCA374232926TGFBR1c.984A>T (p.Lys328Asn)
c.996A>T (p.Lys332Asn)
c.*113A>T (n.*113A>T)
c.753A>T (p.Lys251Asn)
c.*987A>T (n.*987A>T)
c.1191A>T (p.Lys397Asn)
c.960A>T (p.Lys320Asn)
c.1143-1109A>T (n.1143-1109A>T)
c.1203A>T (p.Lys401Asn)
9g.99146546C>ACA374232928TGFBR1c.985C>A (p.Arg329Ser)
c.997C>A (p.Arg333Ser)
c.*114C>A (n.*114C>A)
c.754C>A (p.Arg252Ser)
c.*988C>A (n.*988C>A)
c.1192C>A (p.Arg398Ser)
c.961C>A (p.Arg321Ser)
c.1143-1108C>A (n.1143-1108C>A)
c.1204C>A (p.Arg402Ser)
9g.99146546C=CA1867263854TGFBR1c.985C= (p.Arg329=)
c.997C= (p.Arg333=)
c.*114C= (n.*114C=)
c.754C= (p.Arg252=)
c.*988C= (n.*988C=)
c.1192C= (p.Arg398=)
c.961C= (p.Arg321=)
c.1143-1108C= (n.1143-1108C=)
c.1204C= (p.Arg402=)
9g.99146546C>GCA374232931TGFBR1c.985C>G (p.Arg329Gly)
c.997C>G (p.Arg333Gly)
c.*114C>G (n.*114C>G)
c.754C>G (p.Arg252Gly)
c.*988C>G (n.*988C>G)
c.1192C>G (p.Arg398Gly)
c.961C>G (p.Arg321Gly)
c.1143-1108C>G (n.1143-1108C>G)
c.1204C>G (p.Arg402Gly)
9g.99146546C>TCA374232932TGFBR1c.985C>T (p.Arg329Cys)
c.997C>T (p.Arg333Cys)
c.*114C>T (n.*114C>T)
c.754C>T (p.Arg252Cys)
c.*988C>T (n.*988C>T)
c.1192C>T (p.Arg398Cys)
c.961C>T (p.Arg321Cys)
c.1143-1108C>T (n.1143-1108C>T)
c.1204C>T (p.Arg402Cys)
 dbSNP gnomAD v4
9g.99146547G>ACA044253TGFBR1c.986G>A (p.Arg329His)
c.998G>A (p.Arg333His)
c.*115G>A (n.*115G>A)
c.755G>A (p.Arg252His)
c.*989G>A (n.*989G>A)
c.1193G>A (p.Arg398His)
c.962G>A (p.Arg321His)
c.1143-1107G>A (n.1143-1107G>A)
c.1205G>A (p.Arg402His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.99146547G>CCA374232935TGFBR1c.986G>C (p.Arg329Pro)
c.998G>C (p.Arg333Pro)
c.*115G>C (n.*115G>C)
c.755G>C (p.Arg252Pro)
c.*989G>C (n.*989G>C)
c.1193G>C (p.Arg398Pro)
c.962G>C (p.Arg321Pro)
c.1143-1107G>C (n.1143-1107G>C)
c.1205G>C (p.Arg402Pro)
9g.99146547G=CA1867263857TGFBR1c.986G= (p.Arg329=)
c.998G= (p.Arg333=)
c.*115G= (n.*115G=)
c.755G= (p.Arg252=)
c.*989G= (n.*989G=)
c.1193G= (p.Arg398=)
c.962G= (p.Arg321=)
c.1143-1107G= (n.1143-1107G=)
c.1205G= (p.Arg402=)
9g.99146547G>TCA374232933TGFBR1c.986G>T (p.Arg329Leu)
c.998G>T (p.Arg333Leu)
c.*115G>T (n.*115G>T)
c.755G>T (p.Arg252Leu)
c.*989G>T (n.*989G>T)
c.1193G>T (p.Arg398Leu)
c.962G>T (p.Arg321Leu)
c.1143-1107G>T (n.1143-1107G>T)
c.1205G>T (p.Arg402Leu)
 gnomAD v4
9g.99146548T>ACA466435342TGFBR1c.987T>A (p.Arg329=)
c.999T>A (p.Arg333=)
c.*116T>A (n.*116T>A)
c.756T>A (p.Arg252=)
c.*990T>A (n.*990T>A)
c.1194T>A (p.Arg398=)
c.963T>A (p.Arg321=)
c.1143-1106T>A (n.1143-1106T>A)
c.1206T>A (p.Arg402=)
9g.99146548T>CCA466435343TGFBR1c.987T>C (p.Arg329=)
c.999T>C (p.Arg333=)
c.*116T>C (n.*116T>C)
c.756T>C (p.Arg252=)
c.*990T>C (n.*990T>C)
c.1194T>C (p.Arg398=)
c.963T>C (p.Arg321=)
c.1143-1106T>C (n.1143-1106T>C)
c.1206T>C (p.Arg402=)
 ClinVar
9g.99146548T>GCA466435344TGFBR1c.987T>G (p.Arg329=)
c.999T>G (p.Arg333=)
c.*116T>G (n.*116T>G)
c.756T>G (p.Arg252=)
c.*990T>G (n.*990T>G)
c.1194T>G (p.Arg398=)
c.963T>G (p.Arg321=)
c.1143-1106T>G (n.1143-1106T>G)
c.1206T>G (p.Arg402=)
9g.99146549G>ACA374232937TGFBR1c.988G>A (p.Ala330Thr)
c.1000G>A (p.Ala334Thr)
c.*117G>A (n.*117G>A)
c.757G>A (p.Ala253Thr)
c.*991G>A (n.*991G>A)
c.1195G>A (p.Ala399Thr)
c.964G>A (p.Ala322Thr)
c.1143-1105G>A (n.1143-1105G>A)
c.1207G>A (p.Ala403Thr)
 dbSNP
9g.99146549G>CCA374232939TGFBR1c.988G>C (p.Ala330Pro)
c.1000G>C (p.Ala334Pro)
c.*117G>C (n.*117G>C)
c.757G>C (p.Ala253Pro)
c.*991G>C (n.*991G>C)
c.1195G>C (p.Ala399Pro)
c.964G>C (p.Ala322Pro)
c.1143-1105G>C (n.1143-1105G>C)
c.1207G>C (p.Ala403Pro)
9g.99146549G=CA1867263859TGFBR1c.988G= (p.Ala330=)
c.1000G= (p.Ala334=)
c.*117G= (n.*117G=)
c.757G= (p.Ala253=)
c.*991G= (n.*991G=)
c.1195G= (p.Ala399=)
c.964G= (p.Ala322=)
c.1143-1105G= (n.1143-1105G=)
c.1207G= (p.Ala403=)
9g.99146549G>TCA374232942TGFBR1c.988G>T (p.Ala330Ser)
c.1000G>T (p.Ala334Ser)
c.*117G>T (n.*117G>T)
c.757G>T (p.Ala253Ser)
c.*991G>T (n.*991G>T)
c.1195G>T (p.Ala399Ser)
c.964G>T (p.Ala322Ser)
c.1143-1105G>T (n.1143-1105G>T)
c.1207G>T (p.Ala403Ser)
 dbSNP gnomAD v2 gnomAD v4
9g.99146550C>ACA374232945TGFBR1c.989C>A (p.Ala330Asp)
c.1001C>A (p.Ala334Asp)
c.*118C>A (n.*118C>A)
c.758C>A (p.Ala253Asp)
c.*992C>A (n.*992C>A)
c.1196C>A (p.Ala399Asp)
c.965C>A (p.Ala322Asp)
c.1143-1104C>A (n.1143-1104C>A)
c.1208C>A (p.Ala403Asp)
9g.99146550C=CA1867263863TGFBR1c.989C= (p.Ala330=)
c.1001C= (p.Ala334=)
c.*118C= (n.*118C=)
c.758C= (p.Ala253=)
c.*992C= (n.*992C=)
c.1196C= (p.Ala399=)
c.965C= (p.Ala322=)
c.1143-1104C= (n.1143-1104C=)
c.1208C= (p.Ala403=)
9g.99146550C>GCA374232946TGFBR1c.989C>G (p.Ala330Gly)
c.1001C>G (p.Ala334Gly)
c.*118C>G (n.*118C>G)
c.758C>G (p.Ala253Gly)
c.*992C>G (n.*992C>G)
c.1196C>G (p.Ala399Gly)
c.965C>G (p.Ala322Gly)
c.1143-1104C>G (n.1143-1104C>G)
c.1208C>G (p.Ala403Gly)
 ClinVar dbSNP gnomAD v4
9g.99146550C>TCA374232947TGFBR1c.989C>T (p.Ala330Val)
c.1001C>T (p.Ala334Val)
c.*118C>T (n.*118C>T)
c.758C>T (p.Ala253Val)
c.*992C>T (n.*992C>T)
c.1196C>T (p.Ala399Val)
c.965C>T (p.Ala322Val)
c.1143-1104C>T (n.1143-1104C>T)
c.1208C>T (p.Ala403Val)
9g.99146551T>ACA466435347TGFBR1c.990T>A (p.Ala330=)
c.1002T>A (p.Ala334=)
c.*119T>A (n.*119T>A)
c.759T>A (p.Ala253=)
c.*993T>A (n.*993T>A)
c.1197T>A (p.Ala399=)
c.966T>A (p.Ala322=)
c.1143-1103T>A (n.1143-1103T>A)
c.1209T>A (p.Ala403=)
9g.99146551T>CCA466435350TGFBR1c.990T>C (p.Ala330=)
c.1002T>C (p.Ala334=)
c.*119T>C (n.*119T>C)
c.759T>C (p.Ala253=)
c.*993T>C (n.*993T>C)
c.1197T>C (p.Ala399=)
c.966T>C (p.Ala322=)
c.1143-1103T>C (n.1143-1103T>C)
c.1209T>C (p.Ala403=)
 gnomAD v4
9g.99146551T>GCA466435345TGFBR1c.990T>G (p.Ala330=)
c.1002T>G (p.Ala334=)
c.*119T>G (n.*119T>G)
c.759T>G (p.Ala253=)
c.*993T>G (n.*993T>G)
c.1197T>G (p.Ala399=)
c.966T>G (p.Ala322=)
c.1143-1103T>G (n.1143-1103T>G)
c.1209T>G (p.Ala403=)
 gnomAD v4
9g.99146552G>ACA374232951TGFBR1c.991G>A (p.Asp331Asn)
c.1003G>A (p.Asp335Asn)
c.*120G>A (n.*120G>A)
c.760G>A (p.Asp254Asn)
c.*994G>A (n.*994G>A)
c.1198G>A (p.Asp400Asn)
c.967G>A (p.Asp323Asn)
c.1143-1102G>A (n.1143-1102G>A)
c.1210G>A (p.Asp404Asn)
 ClinVar dbSNP
9g.99146552G>CCA374232948TGFBR1c.991G>C (p.Asp331His)
c.1003G>C (p.Asp335His)
c.*120G>C (n.*120G>C)
c.760G>C (p.Asp254His)
c.*994G>C (n.*994G>C)
c.1198G>C (p.Asp400His)
c.967G>C (p.Asp323His)
c.1143-1102G>C (n.1143-1102G>C)
c.1210G>C (p.Asp404His)
 COSMIC
9g.99146552G>TCA374232950TGFBR1c.991G>T (p.Asp331Tyr)
c.1003G>T (p.Asp335Tyr)
c.*120G>T (n.*120G>T)
c.760G>T (p.Asp254Tyr)
c.*994G>T (n.*994G>T)
c.1198G>T (p.Asp400Tyr)
c.967G>T (p.Asp323Tyr)
c.1143-1102G>T (n.1143-1102G>T)
c.1210G>T (p.Asp404Tyr)
 dbSNP COSMIC
9g.99146553A=CA1867263867TGFBR1c.992A= (p.Asp331=)
c.1004A= (p.Asp335=)
c.*121A= (n.*121A=)
c.761A= (p.Asp254=)
c.*995A= (n.*995A=)
c.1199A= (p.Asp400=)
c.968A= (p.Asp323=)
c.1143-1101A= (n.1143-1101A=)
c.1211A= (p.Asp404=)
9g.99146553A>CCA374232953TGFBR1c.992A>C (p.Asp331Ala)
c.1004A>C (p.Asp335Ala)
c.*121A>C (n.*121A>C)
c.761A>C (p.Asp254Ala)
c.*995A>C (n.*995A>C)
c.1199A>C (p.Asp400Ala)
c.968A>C (p.Asp323Ala)
c.1143-1101A>C (n.1143-1101A>C)
c.1211A>C (p.Asp404Ala)
9g.99146553A>GCA008717TGFBR1c.992A>G (p.Asp331Gly)
c.1004A>G (p.Asp335Gly)
c.*121A>G (n.*121A>G)
c.761A>G (p.Asp254Gly)
c.*995A>G (n.*995A>G)
c.1199A>G (p.Asp400Gly)
c.968A>G (p.Asp323Gly)
c.1143-1101A>G (n.1143-1101A>G)
c.1211A>G (p.Asp404Gly)
 ClinVar dbSNP
9g.99146553A>TCA374232956TGFBR1c.992A>T (p.Asp331Val)
c.1004A>T (p.Asp335Val)
c.*121A>T (n.*121A>T)
c.761A>T (p.Asp254Val)
c.*995A>T (n.*995A>T)
c.1199A>T (p.Asp400Val)
c.968A>T (p.Asp323Val)
c.1143-1101A>T (n.1143-1101A>T)
c.1211A>T (p.Asp404Val)
9g.99146554C>ACA374232957TGFBR1c.993C>A (p.Asp331Glu)
c.1005C>A (p.Asp335Glu)
c.*122C>A (n.*122C>A)
c.762C>A (p.Asp254Glu)
c.*996C>A (n.*996C>A)
c.1200C>A (p.Asp400Glu)
c.969C>A (p.Asp323Glu)
c.1143-1100C>A (n.1143-1100C>A)
c.1212C>A (p.Asp404Glu)
9g.99146554C=CA1867263871TGFBR1c.993C= (p.Asp331=)
c.1005C= (p.Asp335=)
c.*122C= (n.*122C=)
c.762C= (p.Asp254=)
c.*996C= (n.*996C=)
c.1200C= (p.Asp400=)
c.969C= (p.Asp323=)
c.1143-1100C= (n.1143-1100C=)
c.1212C= (p.Asp404=)
9g.99146554C>GCA374232958TGFBR1c.993C>G (p.Asp331Glu)
c.1005C>G (p.Asp335Glu)
c.*122C>G (n.*122C>G)
c.762C>G (p.Asp254Glu)
c.*996C>G (n.*996C>G)
c.1200C>G (p.Asp400Glu)
c.969C>G (p.Asp323Glu)
c.1143-1100C>G (n.1143-1100C>G)
c.1212C>G (p.Asp404Glu)
9g.99146554C>TCA466435356TGFBR1c.993C>T (p.Asp331=)
c.1005C>T (p.Asp335=)
c.*122C>T (n.*122C>T)
c.762C>T (p.Asp254=)
c.*996C>T (n.*996C>T)
c.1200C>T (p.Asp400=)
c.969C>T (p.Asp323=)
c.1143-1100C>T (n.1143-1100C>T)
c.1212C>T (p.Asp404=)
 dbSNP gnomAD v4
9g.99146555A>CCA374232959TGFBR1c.994A>C (p.Ile332Leu)
c.1006A>C (p.Ile336Leu)
c.*123A>C (n.*123A>C)
c.763A>C (p.Ile255Leu)
c.*997A>C (n.*997A>C)
c.1201A>C (p.Ile401Leu)
c.970A>C (p.Ile324Leu)
c.1143-1099A>C (n.1143-1099A>C)
c.1213A>C (p.Ile405Leu)
9g.99146555A>GCA374232961TGFBR1c.994A>G (p.Ile332Val)
c.1006A>G (p.Ile336Val)
c.*123A>G (n.*123A>G)
c.763A>G (p.Ile255Val)
c.*997A>G (n.*997A>G)
c.1201A>G (p.Ile401Val)
c.970A>G (p.Ile324Val)
c.1143-1099A>G (n.1143-1099A>G)
c.1213A>G (p.Ile405Val)
9g.99146555A>TCA374232963TGFBR1c.994A>T (p.Ile332Phe)
c.1006A>T (p.Ile336Phe)
c.*123A>T (n.*123A>T)
c.763A>T (p.Ile255Phe)
c.*997A>T (n.*997A>T)
c.1201A>T (p.Ile401Phe)
c.970A>T (p.Ile324Phe)
c.1143-1099A>T (n.1143-1099A>T)
c.1213A>T (p.Ile405Phe)
9g.99146556T>ACA374232966TGFBR1c.995T>A (p.Ile332Asn)
c.1007T>A (p.Ile336Asn)
c.*124T>A (n.*124T>A)
c.764T>A (p.Ile255Asn)
c.*998T>A (n.*998T>A)
c.1202T>A (p.Ile401Asn)
c.971T>A (p.Ile324Asn)
c.1143-1098T>A (n.1143-1098T>A)
c.1214T>A (p.Ile405Asn)
 dbSNP gnomAD v2
9g.99146556T>CCA374232967TGFBR1c.995T>C (p.Ile332Thr)
c.1007T>C (p.Ile336Thr)
c.*124T>C (n.*124T>C)
c.764T>C (p.Ile255Thr)
c.*998T>C (n.*998T>C)
c.1202T>C (p.Ile401Thr)
c.971T>C (p.Ile324Thr)
c.1143-1098T>C (n.1143-1098T>C)
c.1214T>C (p.Ile405Thr)
9g.99146556T>GCA374232969TGFBR1c.995T>G (p.Ile332Ser)
c.1007T>G (p.Ile336Ser)
c.*124T>G (n.*124T>G)
c.764T>G (p.Ile255Ser)
c.*998T>G (n.*998T>G)
c.1202T>G (p.Ile401Ser)
c.971T>G (p.Ile324Ser)
c.1143-1098T>G (n.1143-1098T>G)
c.1214T>G (p.Ile405Ser)
9g.99146556T=CA1867263874TGFBR1c.995T= (p.Ile332=)
c.1007T= (p.Ile336=)
c.*124T= (n.*124T=)
c.764T= (p.Ile255=)
c.*998T= (n.*998T=)
c.1202T= (p.Ile401=)
c.971T= (p.Ile324=)
c.1143-1098T= (n.1143-1098T=)
c.1214T= (p.Ile405=)
9g.99146557C>ACA466435364TGFBR1c.996C>A (p.Ile332=)
c.1008C>A (p.Ile336=)
c.*125C>A (n.*125C>A)
c.765C>A (p.Ile255=)
c.*999C>A (n.*999C>A)
c.1203C>A (p.Ile401=)
c.972C>A (p.Ile324=)
c.1143-1097C>A (n.1143-1097C>A)
c.1215C>A (p.Ile405=)
 ClinVar dbSNP gnomAD v4
9g.99146557C=CA1867263880TGFBR1c.996C= (p.Ile332=)
c.1008C= (p.Ile336=)
c.*125C= (n.*125C=)
c.765C= (p.Ile255=)
c.*999C= (n.*999C=)
c.1203C= (p.Ile401=)
c.972C= (p.Ile324=)
c.1143-1097C= (n.1143-1097C=)
c.1215C= (p.Ile405=)
9g.99146557C>GCA374232971TGFBR1c.996C>G (p.Ile332Met)
c.1008C>G (p.Ile336Met)
c.*125C>G (n.*125C>G)
c.765C>G (p.Ile255Met)
c.*999C>G (n.*999C>G)
c.1203C>G (p.Ile401Met)
c.972C>G (p.Ile324Met)
c.1143-1097C>G (n.1143-1097C>G)
c.1215C>G (p.Ile405Met)
 ClinVar gnomAD v4
9g.99146557C>TCA044274TGFBR1c.996C>T (p.Ile332=)
c.1008C>T (p.Ile336=)
c.*125C>T (n.*125C>T)
c.765C>T (p.Ile255=)
c.*999C>T (n.*999C>T)
c.1203C>T (p.Ile401=)
c.972C>T (p.Ile324=)
c.1143-1097C>T (n.1143-1097C>T)
c.1215C>T (p.Ile405=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.99146558T>ACA374232974TGFBR1c.997T>A (p.Tyr333Asn)
c.1009T>A (p.Tyr337Asn)
c.*126T>A (n.*126T>A)
c.766T>A (p.Tyr256Asn)
c.*1000T>A (n.*1000T>A)
c.1204T>A (p.Tyr402Asn)
c.973T>A (p.Tyr325Asn)
c.1143-1096T>A (n.1143-1096T>A)
c.1216T>A (p.Tyr406Asn)
9g.99146558T>CCA374232977TGFBR1c.997T>C (p.Tyr333His)
c.1009T>C (p.Tyr337His)
c.*126T>C (n.*126T>C)
c.766T>C (p.Tyr256His)
c.*1000T>C (n.*1000T>C)
c.1204T>C (p.Tyr402His)
c.973T>C (p.Tyr325His)
c.1143-1096T>C (n.1143-1096T>C)
c.1216T>C (p.Tyr406His)
9g.99146558T>GCA374232976TGFBR1c.997T>G (p.Tyr333Asp)
c.1009T>G (p.Tyr337Asp)
c.*126T>G (n.*126T>G)
c.766T>G (p.Tyr256Asp)
c.*1000T>G (n.*1000T>G)
c.1204T>G (p.Tyr402Asp)
c.973T>G (p.Tyr325Asp)
c.1143-1096T>G (n.1143-1096T>G)
c.1216T>G (p.Tyr406Asp)
9g.99146558_99146559insTTGGCA2720314617TGFBR1c.997_998insTTGG (p.Tyr333PhefsTer22)
c.1009_1010insTTGG (p.Tyr337PhefsTer22)
c.*126_*127insTTGG (n.*126_*127insTTGG)
c.766_767insTTGG (p.Tyr256PhefsTer22)
c.*1000_*1001insTTGG (n.*1000_*1001insTTGG)
c.1204_1205insTTGG (p.Tyr402PhefsTer22)
c.973_974insTTGG (p.Tyr325PhefsTer22)
c.1143-1096_1143-1095insTTGG (n.1143-1096_1143-1095insTTGG)
c.1216_1217insTTGG (p.Tyr406PhefsTer22)
 dbSNP
9g.99146559A=CA1867263886TGFBR1c.998A= (p.Tyr333=)
c.1010A= (p.Tyr337=)
c.*127A= (n.*127A=)
c.767A= (p.Tyr256=)
c.*1001A= (n.*1001A=)
c.1205A= (p.Tyr402=)
c.974A= (p.Tyr325=)
c.1143-1095A= (n.1143-1095A=)
c.1217A= (p.Tyr406=)
9g.99146559A>CCA374232979TGFBR1c.998A>C (p.Tyr333Ser)
c.1010A>C (p.Tyr337Ser)
c.*127A>C (n.*127A>C)
c.767A>C (p.Tyr256Ser)
c.*1001A>C (n.*1001A>C)
c.1205A>C (p.Tyr402Ser)
c.974A>C (p.Tyr325Ser)
c.1143-1095A>C (n.1143-1095A>C)
c.1217A>C (p.Tyr406Ser)
9g.99146559A>GCA044286TGFBR1c.998A>G (p.Tyr333Cys)
c.1010A>G (p.Tyr337Cys)
c.*127A>G (n.*127A>G)
c.767A>G (p.Tyr256Cys)
c.*1001A>G (n.*1001A>G)
c.1205A>G (p.Tyr402Cys)
c.974A>G (p.Tyr325Cys)
c.1143-1095A>G (n.1143-1095A>G)
c.1217A>G (p.Tyr406Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.99146559A>TCA374232981TGFBR1c.998A>T (p.Tyr333Phe)
c.1010A>T (p.Tyr337Phe)
c.*127A>T (n.*127A>T)
c.767A>T (p.Tyr256Phe)
c.*1001A>T (n.*1001A>T)
c.1205A>T (p.Tyr402Phe)
c.974A>T (p.Tyr325Phe)
c.1143-1095A>T (n.1143-1095A>T)
c.1217A>T (p.Tyr406Phe)
9g.99146560T>ACA374232982TGFBR1c.999T>A (p.Tyr333Ter)
c.1011T>A (p.Tyr337Ter)
c.*128T>A (n.*128T>A)
c.768T>A (p.Tyr256Ter)
c.*1002T>A (n.*1002T>A)
c.1206T>A (p.Tyr402Ter)
c.975T>A (p.Tyr325Ter)
c.1143-1094T>A (n.1143-1094T>A)
c.1218T>A (p.Tyr406Ter)
9g.99146560T>CCA466435371TGFBR1c.999T>C (p.Tyr333=)
c.1011T>C (p.Tyr337=)
c.*128T>C (n.*128T>C)
c.768T>C (p.Tyr256=)
c.*1002T>C (n.*1002T>C)
c.1206T>C (p.Tyr402=)
c.975T>C (p.Tyr325=)
c.1143-1094T>C (n.1143-1094T>C)
c.1218T>C (p.Tyr406=)
9g.99146560T>GCA374232983TGFBR1c.999T>G (p.Tyr333Ter)
c.1011T>G (p.Tyr337Ter)
c.*128T>G (n.*128T>G)
c.768T>G (p.Tyr256Ter)
c.*1002T>G (n.*1002T>G)
c.1206T>G (p.Tyr402Ter)
c.975T>G (p.Tyr325Ter)
c.1143-1094T>G (n.1143-1094T>G)
c.1218T>G (p.Tyr406Ter)
9g.99146561G>ACA374232985TGFBR1c.1000G>A (p.Ala334Thr)
c.1012G>A (p.Ala338Thr)
c.*129G>A (n.*129G>A)
c.769G>A (p.Ala257Thr)
c.*1003G>A (n.*1003G>A)
c.1207G>A (p.Ala403Thr)
c.976G>A (p.Ala326Thr)
c.1143-1093G>A (n.1143-1093G>A)
c.1219G>A (p.Ala407Thr)
9g.99146561G>CCA374232988TGFBR1c.1000G>C (p.Ala334Pro)
c.1012G>C (p.Ala338Pro)
c.*129G>C (n.*129G>C)
c.769G>C (p.Ala257Pro)
c.*1003G>C (n.*1003G>C)
c.1207G>C (p.Ala403Pro)
c.976G>C (p.Ala326Pro)
c.1143-1093G>C (n.1143-1093G>C)
c.1219G>C (p.Ala407Pro)
9g.99146561G>TCA374232990TGFBR1c.1000G>T (p.Ala334Ser)
c.1012G>T (p.Ala338Ser)
c.*129G>T (n.*129G>T)
c.769G>T (p.Ala257Ser)
c.*1003G>T (n.*1003G>T)
c.1207G>T (p.Ala403Ser)
c.976G>T (p.Ala326Ser)
c.1143-1093G>T (n.1143-1093G>T)
c.1219G>T (p.Ala407Ser)
9g.99146561_99146562insAACCTCCTTTCAGACA2720314621TGFBR1c.1000_1001insAACCTCCTTTCAGA (p.Ala334GlufsTer9)
c.1012_1013insAACCTCCTTTCAGA (p.Ala338GlufsTer9)
c.*129_*130insAACCTCCTTTCAGA (n.*129_*130insAACCTCCTTTCAGA)
c.769_770insAACCTCCTTTCAGA (p.Ala257GlufsTer9)
c.*1003_*1004insAACCTCCTTTCAGA (n.*1003_*1004insAACCTCCTTTCAGA)
c.1207_1208insAACCTCCTTTCAGA (p.Ala403GlufsTer9)
c.976_977insAACCTCCTTTCAGA (p.Ala326GlufsTer9)
c.1143-1093_1143-1092insAACCTCCTTTCAGA (n.1143-1093_1143-1092insAACCTCCTTTCAGA)
c.1219_1220insAACCTCCTTTCAGA (p.Ala407GlufsTer9)
 dbSNP
9g.99146562C>ACA374232992TGFBR1c.1001C>A (p.Ala334Glu)
c.1013C>A (p.Ala338Glu)
c.*130C>A (n.*130C>A)
c.770C>A (p.Ala257Glu)
c.*1004C>A (n.*1004C>A)
c.1208C>A (p.Ala403Glu)
c.977C>A (p.Ala326Glu)
c.1143-1092C>A (n.1143-1092C>A)
c.1220C>A (p.Ala407Glu)
9g.99146562C=CA1867263890TGFBR1c.1001C= (p.Ala334=)
c.1013C= (p.Ala338=)
c.*130C= (n.*130C=)
c.770C= (p.Ala257=)
c.*1004C= (n.*1004C=)
c.1208C= (p.Ala403=)
c.977C= (p.Ala326=)
c.1143-1092C= (n.1143-1092C=)
c.1220C= (p.Ala407=)
9g.99146562C>GCA044303TGFBR1c.1001C>G (p.Ala334Gly)
c.1013C>G (p.Ala338Gly)
c.*130C>G (n.*130C>G)
c.770C>G (p.Ala257Gly)
c.*1004C>G (n.*1004C>G)
c.1208C>G (p.Ala403Gly)
c.977C>G (p.Ala326Gly)
c.1143-1092C>G (n.1143-1092C>G)
c.1220C>G (p.Ala407Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.99146562C>TCA044324TGFBR1c.1001C>T (p.Ala334Val)
c.1013C>T (p.Ala338Val)
c.*130C>T (n.*130C>T)
c.770C>T (p.Ala257Val)
c.*1004C>T (n.*1004C>T)
c.1208C>T (p.Ala403Val)
c.977C>T (p.Ala326Val)
c.1143-1092C>T (n.1143-1092C>T)
c.1220C>T (p.Ala407Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.99146563A>CCA466435373TGFBR1c.1002A>C (p.Ala334=)
c.1014A>C (p.Ala338=)
c.*131A>C (n.*131A>C)
c.771A>C (p.Ala257=)
c.*1005A>C (n.*1005A>C)
c.1209A>C (p.Ala403=)
c.978A>C (p.Ala326=)
c.1143-1091A>C (n.1143-1091A>C)
c.1221A>C (p.Ala407=)
9g.99146563A>GCA466435375TGFBR1c.1002A>G (p.Ala334=)
c.1014A>G (p.Ala338=)
c.*131A>G (n.*131A>G)
c.771A>G (p.Ala257=)
c.*1005A>G (n.*1005A>G)
c.1209A>G (p.Ala403=)
c.978A>G (p.Ala326=)
c.1143-1091A>G (n.1143-1091A>G)
c.1221A>G (p.Ala407=)
9g.99146563A>TCA466435377TGFBR1c.1002A>T (p.Ala334=)
c.1014A>T (p.Ala338=)
c.*131A>T (n.*131A>T)
c.771A>T (p.Ala257=)
c.*1005A>T (n.*1005A>T)
c.1209A>T (p.Ala403=)
c.978A>T (p.Ala326=)
c.1143-1091A>T (n.1143-1091A>T)
c.1221A>T (p.Ala407=)
9g.99146564A=CA1867263895TGFBR1c.1003A= (p.Met335=)
c.1015A= (p.Met339=)
c.*132A= (n.*132A=)
c.772A= (p.Met258=)
c.*1006A= (n.*1006A=)
c.1210A= (p.Met404=)
c.979A= (p.Met327=)
c.1143-1090A= (n.1143-1090A=)
c.1222A= (p.Met408=)
9g.99146564A>CCA374233000TGFBR1c.1003A>C (p.Met335Leu)
c.1015A>C (p.Met339Leu)
c.*132A>C (n.*132A>C)
c.772A>C (p.Met258Leu)
c.*1006A>C (n.*1006A>C)
c.1210A>C (p.Met404Leu)
c.979A>C (p.Met327Leu)
c.1143-1090A>C (n.1143-1090A>C)
c.1222A>C (p.Met408Leu)
9g.99146564A>GCA044334TGFBR1c.1003A>G (p.Met335Val)
c.1015A>G (p.Met339Val)
c.*132A>G (n.*132A>G)
c.772A>G (p.Met258Val)
c.*1006A>G (n.*1006A>G)
c.1210A>G (p.Met404Val)
c.979A>G (p.Met327Val)
c.1143-1090A>G (n.1143-1090A>G)
c.1222A>G (p.Met408Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.99146564A>TCA374232997TGFBR1c.1003A>T (p.Met335Leu)
c.1015A>T (p.Met339Leu)
c.*132A>T (n.*132A>T)
c.772A>T (p.Met258Leu)
c.*1006A>T (n.*1006A>T)
c.1210A>T (p.Met404Leu)
c.979A>T (p.Met327Leu)
c.1143-1090A>T (n.1143-1090A>T)
c.1222A>T (p.Met408Leu)
 dbSNP
9g.99146565T>ACA374233002TGFBR1c.1004T>A (p.Met335Lys)
c.1016T>A (p.Met339Lys)
c.*133T>A (n.*133T>A)
c.773T>A (p.Met258Lys)
c.*1007T>A (n.*1007T>A)
c.1211T>A (p.Met404Lys)
c.980T>A (p.Met327Lys)
c.1143-1089T>A (n.1143-1089T>A)
c.1223T>A (p.Met408Lys)
9g.99146565T>CCA374233005TGFBR1c.1004T>C (p.Met335Thr)
c.1016T>C (p.Met339Thr)
c.*133T>C (n.*133T>C)
c.773T>C (p.Met258Thr)
c.*1007T>C (n.*1007T>C)
c.1211T>C (p.Met404Thr)
c.980T>C (p.Met327Thr)
c.1143-1089T>C (n.1143-1089T>C)
c.1223T>C (p.Met408Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.99146565T>GCA374233007TGFBR1c.1004T>G (p.Met335Arg)
c.1016T>G (p.Met339Arg)
c.*133T>G (n.*133T>G)
c.773T>G (p.Met258Arg)
c.*1007T>G (n.*1007T>G)
c.1211T>G (p.Met404Arg)
c.980T>G (p.Met327Arg)
c.1143-1089T>G (n.1143-1089T>G)
c.1223T>G (p.Met408Arg)
9g.99146565T=CA1867263899TGFBR1c.1004T= (p.Met335=)
c.1016T= (p.Met339=)
c.*133T= (n.*133T=)
c.773T= (p.Met258=)
c.*1007T= (n.*1007T=)
c.1211T= (p.Met404=)
c.980T= (p.Met327=)
c.1143-1089T= (n.1143-1089T=)
c.1223T= (p.Met408=)
9g.99146566G>ACA374233012TGFBR1c.1005G>A (p.Met335Ile)
c.1017G>A (p.Met339Ile)
c.*134G>A (n.*134G>A)
c.774G>A (p.Met258Ile)
c.*1008G>A (n.*1008G>A)
c.1212G>A (p.Met404Ile)
c.981G>A (p.Met327Ile)
c.1143-1088G>A (n.1143-1088G>A)
c.1224G>A (p.Met408Ile)
9g.99146566G>CCA374233014TGFBR1c.1005G>C (p.Met335Ile)
c.1017G>C (p.Met339Ile)
c.*134G>C (n.*134G>C)
c.774G>C (p.Met258Ile)
c.*1008G>C (n.*1008G>C)
c.1212G>C (p.Met404Ile)
c.981G>C (p.Met327Ile)
c.1143-1088G>C (n.1143-1088G>C)
c.1224G>C (p.Met408Ile)
9g.99146566G>TCA374233019TGFBR1c.1005G>T (p.Met335Ile)
c.1017G>T (p.Met339Ile)
c.*134G>T (n.*134G>T)
c.774G>T (p.Met258Ile)
c.*1008G>T (n.*1008G>T)
c.1212G>T (p.Met404Ile)
c.981G>T (p.Met327Ile)
c.1143-1088G>T (n.1143-1088G>T)
c.1224G>T (p.Met408Ile)
 gnomAD v4
9g.99146567G>ACA374233022TGFBR1c.1006G>A (p.Gly336Ser)
c.1018G>A (p.Gly340Ser)
c.*135G>A (n.*135G>A)
c.775G>A (p.Gly259Ser)
c.*1009G>A (n.*1009G>A)
c.1213G>A (p.Gly405Ser)
c.982G>A (p.Gly328Ser)
c.1143-1087G>A (n.1143-1087G>A)
c.1225G>A (p.Gly409Ser)
9g.99146567G>CCA374233023TGFBR1c.1006G>C (p.Gly336Arg)
c.1018G>C (p.Gly340Arg)
c.*135G>C (n.*135G>C)
c.775G>C (p.Gly259Arg)
c.*1009G>C (n.*1009G>C)
c.1213G>C (p.Gly405Arg)
c.982G>C (p.Gly328Arg)
c.1143-1087G>C (n.1143-1087G>C)
c.1225G>C (p.Gly409Arg)
9g.99146567G>TCA374233025TGFBR1c.1006G>T (p.Gly336Cys)
c.1018G>T (p.Gly340Cys)
c.*135G>T (n.*135G>T)
c.775G>T (p.Gly259Cys)
c.*1009G>T (n.*1009G>T)
c.1213G>T (p.Gly405Cys)
c.982G>T (p.Gly328Cys)
c.1143-1087G>T (n.1143-1087G>T)
c.1225G>T (p.Gly409Cys)
9g.99146568G>ACA374233027TGFBR1c.1007G>A (p.Gly336Asp)
c.1019G>A (p.Gly340Asp)
c.*136G>A (n.*136G>A)
c.776G>A (p.Gly259Asp)
c.*1010G>A (n.*1010G>A)
c.1214G>A (p.Gly405Asp)
c.983G>A (p.Gly328Asp)
c.1143-1086G>A (n.1143-1086G>A)
c.1226G>A (p.Gly409Asp)
 dbSNP
9g.99146568G>CCA374233028TGFBR1c.1007G>C (p.Gly336Ala)
c.1019G>C (p.Gly340Ala)
c.*136G>C (n.*136G>C)
c.776G>C (p.Gly259Ala)
c.*1010G>C (n.*1010G>C)
c.1214G>C (p.Gly405Ala)
c.983G>C (p.Gly328Ala)
c.1143-1086G>C (n.1143-1086G>C)
c.1226G>C (p.Gly409Ala)
9g.99146568G>TCA374233029TGFBR1c.1007G>T (p.Gly336Val)
c.1019G>T (p.Gly340Val)
c.*136G>T (n.*136G>T)
c.776G>T (p.Gly259Val)
c.*1010G>T (n.*1010G>T)
c.1214G>T (p.Gly405Val)
c.983G>T (p.Gly328Val)
c.1143-1086G>T (n.1143-1086G>T)
c.1226G>T (p.Gly409Val)
 gnomAD v4
9g.99146569C>ACA466435379TGFBR1c.1008C>A (p.Gly336=)
c.1020C>A (p.Gly340=)
c.*137C>A (n.*137C>A)
c.777C>A (p.Gly259=)
c.*1011C>A (n.*1011C>A)
c.1215C>A (p.Gly405=)
c.984C>A (p.Gly328=)
c.1143-1085C>A (n.1143-1085C>A)
c.1227C>A (p.Gly409=)
9g.99146569C>GCA466435380TGFBR1c.1008C>G (p.Gly336=)
c.1020C>G (p.Gly340=)
c.*137C>G (n.*137C>G)
c.777C>G (p.Gly259=)
c.*1011C>G (n.*1011C>G)
c.1215C>G (p.Gly405=)
c.984C>G (p.Gly328=)
c.1143-1085C>G (n.1143-1085C>G)
c.1227C>G (p.Gly409=)
9g.99146569C>TCA466435381TGFBR1c.1008C>T (p.Gly336=)
c.1020C>T (p.Gly340=)
c.*137C>T (n.*137C>T)
c.777C>T (p.Gly259=)
c.*1011C>T (n.*1011C>T)
c.1215C>T (p.Gly405=)
c.984C>T (p.Gly328=)
c.1143-1085C>T (n.1143-1085C>T)
c.1227C>T (p.Gly409=)
9g.99146570T>ACA044656TGFBR1c.1009T>A (p.Leu337Ile)
c.1021T>A (p.Leu341Ile)
c.*138T>A (n.*138T>A)
c.778T>A (p.Leu260Ile)
c.*1012T>A (n.*1012T>A)
c.1216T>A (p.Leu406Ile)
c.985T>A (p.Leu329Ile)
c.1143-1084T>A (n.1143-1084T>A)
c.1228T>A (p.Leu410Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.99146570T>CCA008730TGFBR1c.1009T>C (p.Leu337=)
c.1021T>C (p.Leu341=)
c.*138T>C (n.*138T>C)
c.778T>C (p.Leu260=)
c.*1012T>C (n.*1012T>C)
c.1216T>C (p.Leu406=)
c.985T>C (p.Leu329=)
c.1143-1084T>C (n.1143-1084T>C)
c.1228T>C (p.Leu410=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.99146570T>GCA374233033TGFBR1c.1009T>G (p.Leu337Val)
c.1021T>G (p.Leu341Val)
c.*138T>G (n.*138T>G)
c.778T>G (p.Leu260Val)
c.*1012T>G (n.*1012T>G)
c.1216T>G (p.Leu406Val)
c.985T>G (p.Leu329Val)
c.1143-1084T>G (n.1143-1084T>G)
c.1228T>G (p.Leu410Val)
 COSMIC
9g.99146570T=CA1867263905TGFBR1c.1009T= (p.Leu337=)
c.1021T= (p.Leu341=)
c.*138T= (n.*138T=)
c.778T= (p.Leu260=)
c.*1012T= (n.*1012T=)
c.1216T= (p.Leu406=)
c.985T= (p.Leu329=)
c.1143-1084T= (n.1143-1084T=)
c.1228T= (p.Leu410=)
9g.99146571T>ACA374233036TGFBR1c.1010T>A (p.Leu337Ter)
c.1022T>A (p.Leu341Ter)
c.*139T>A (n.*139T>A)
c.779T>A (p.Leu260Ter)
c.*1013T>A (n.*1013T>A)
c.1217T>A (p.Leu406Ter)
c.986T>A (p.Leu329Ter)
c.1143-1083T>A (n.1143-1083T>A)
c.1229T>A (p.Leu410Ter)
9g.99146571T>CCA374233037TGFBR1c.1010T>C (p.Leu337Ser)
c.1022T>C (p.Leu341Ser)
c.*139T>C (n.*139T>C)
c.779T>C (p.Leu260Ser)
c.*1013T>C (n.*1013T>C)
c.1217T>C (p.Leu406Ser)
c.986T>C (p.Leu329Ser)
c.1143-1083T>C (n.1143-1083T>C)
c.1229T>C (p.Leu410Ser)
9g.99146571T>GCA374233039TGFBR1c.1010T>G (p.Leu337Ter)
c.1022T>G (p.Leu341Ter)
c.*139T>G (n.*139T>G)
c.779T>G (p.Leu260Ter)
c.*1013T>G (n.*1013T>G)
c.1217T>G (p.Leu406Ter)
c.986T>G (p.Leu329Ter)
c.1143-1083T>G (n.1143-1083T>G)
c.1229T>G (p.Leu410Ter)
9g.99146572A=CA1867263915TGFBR1c.1011A= (p.Leu337=)
c.1023A= (p.Leu341=)
c.*140A= (n.*140A=)
c.780A= (p.Leu260=)
c.*1014A= (n.*1014A=)
c.1218A= (p.Leu406=)
c.987A= (p.Leu329=)
c.1143-1082A= (n.1143-1082A=)
c.1230A= (p.Leu410=)
9g.99146572A>CCA374233040TGFBR1c.1011A>C (p.Leu337Phe)
c.1023A>C (p.Leu341Phe)
c.*140A>C (n.*140A>C)
c.780A>C (p.Leu260Phe)
c.*1014A>C (n.*1014A>C)
c.1218A>C (p.Leu406Phe)
c.987A>C (p.Leu329Phe)
c.1143-1082A>C (n.1143-1082A>C)
c.1230A>C (p.Leu410Phe)
9g.99146572A>GCA044775TGFBR1c.1011A>G (p.Leu337=)
c.1023A>G (p.Leu341=)
c.*140A>G (n.*140A>G)
c.780A>G (p.Leu260=)
c.*1014A>G (n.*1014A>G)
c.1218A>G (p.Leu406=)
c.987A>G (p.Leu329=)
c.1143-1082A>G (n.1143-1082A>G)
c.1230A>G (p.Leu410=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.99146572A>TCA374233042TGFBR1c.1011A>T (p.Leu337Phe)
c.1023A>T (p.Leu341Phe)
c.*140A>T (n.*140A>T)
c.780A>T (p.Leu260Phe)
c.*1014A>T (n.*1014A>T)
c.1218A>T (p.Leu406Phe)
c.987A>T (p.Leu329Phe)
c.1143-1082A>T (n.1143-1082A>T)
c.1230A>T (p.Leu410Phe)
9g.99146573G>ACA374233049TGFBR1c.1012G>A (p.Val338Ile)
c.1024G>A (p.Val342Ile)
c.*141G>A (n.*141G>A)
c.781G>A (p.Val261Ile)
c.*1015G>A (n.*1015G>A)
c.1219G>A (p.Val407Ile)
c.988G>A (p.Val330Ile)
c.1143-1081G>A (n.1143-1081G>A)
c.1231G>A (p.Val411Ile)
 COSMIC
9g.99146573G>CCA196894196TGFBR1c.1012G>C (p.Val338Leu)
c.1024G>C (p.Val342Leu)
c.*141G>C (n.*141G>C)
c.781G>C (p.Val261Leu)
c.*1015G>C (n.*1015G>C)
c.1219G>C (p.Val407Leu)
c.988G>C (p.Val330Leu)
c.1143-1081G>C (n.1143-1081G>C)
c.1231G>C (p.Val411Leu)
 dbSNP
9g.99146573G=CA1867263921TGFBR1c.1012G= (p.Val338=)
c.1024G= (p.Val342=)
c.*141G= (n.*141G=)
c.781G= (p.Val261=)
c.*1015G= (n.*1015G=)
c.1219G= (p.Val407=)
c.988G= (p.Val330=)
c.1143-1081G= (n.1143-1081G=)
c.1231G= (p.Val411=)
9g.99146573G>TCA374233045TGFBR1c.1012G>T (p.Val338Leu)
c.1024G>T (p.Val342Leu)
c.*141G>T (n.*141G>T)
c.781G>T (p.Val261Leu)
c.*1015G>T (n.*1015G>T)
c.1219G>T (p.Val407Leu)
c.988G>T (p.Val330Leu)
c.1143-1081G>T (n.1143-1081G>T)
c.1231G>T (p.Val411Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.99146574T>ACA374233051TGFBR1c.1013T>A (p.Val338Glu)
c.1025T>A (p.Val342Glu)
c.*142T>A (n.*142T>A)
c.782T>A (p.Val261Glu)
c.*1016T>A (n.*1016T>A)
c.1220T>A (p.Val407Glu)
c.989T>A (p.Val330Glu)
c.1143-1080T>A (n.1143-1080T>A)
c.1232T>A (p.Val411Glu)
9g.99146574T>CCA374233053TGFBR1c.1013T>C (p.Val338Ala)
c.1025T>C (p.Val342Ala)
c.*142T>C (n.*142T>C)
c.782T>C (p.Val261Ala)
c.*1016T>C (n.*1016T>C)
c.1220T>C (p.Val407Ala)
c.989T>C (p.Val330Ala)
c.1143-1080T>C (n.1143-1080T>C)
c.1232T>C (p.Val411Ala)
9g.99146574T>GCA374233054TGFBR1c.1013T>G (p.Val338Gly)
c.1025T>G (p.Val342Gly)
c.*142T>G (n.*142T>G)
c.782T>G (p.Val261Gly)
c.*1016T>G (n.*1016T>G)
c.1220T>G (p.Val407Gly)
c.989T>G (p.Val330Gly)
c.1143-1080T>G (n.1143-1080T>G)
c.1232T>G (p.Val411Gly)
9g.99146575A>CCA466435386TGFBR1c.1014A>C (p.Val338=)
c.1026A>C (p.Val342=)
c.*143A>C (n.*143A>C)
c.783A>C (p.Val261=)
c.*1017A>C (n.*1017A>C)
c.1221A>C (p.Val407=)
c.990A>C (p.Val330=)
c.1143-1079A>C (n.1143-1079A>C)
c.1233A>C (p.Val411=)
9g.99146575A>GCA466435387TGFBR1c.1014A>G (p.Val338=)
c.1026A>G (p.Val342=)
c.*143A>G (n.*143A>G)
c.783A>G (p.Val261=)
c.*1017A>G (n.*1017A>G)
c.1221A>G (p.Val407=)
c.990A>G (p.Val330=)
c.1143-1079A>G (n.1143-1079A>G)
c.1233A>G (p.Val411=)
 gnomAD v4
9g.99146575A>TCA466435388TGFBR1c.1014A>T (p.Val338=)
c.1026A>T (p.Val342=)
c.*143A>T (n.*143A>T)
c.783A>T (p.Val261=)
c.*1017A>T (n.*1017A>T)
c.1221A>T (p.Val407=)
c.990A>T (p.Val330=)
c.1143-1079A>T (n.1143-1079A>T)
c.1233A>T (p.Val411=)
9g.99146576T>ACA374233057TGFBR1c.1015T>A (p.Phe339Ile)
c.1027T>A (p.Phe343Ile)
c.*144T>A (n.*144T>A)
c.784T>A (p.Phe262Ile)
c.*1018T>A (n.*1018T>A)
c.1222T>A (p.Phe408Ile)
c.991T>A (p.Phe331Ile)
c.1143-1078T>A (n.1143-1078T>A)
c.1234T>A (p.Phe412Ile)
 ClinVar dbSNP
9g.99146576T>CCA374233059TGFBR1c.1015T>C (p.Phe339Leu)
c.1027T>C (p.Phe343Leu)
c.*144T>C (n.*144T>C)
c.784T>C (p.Phe262Leu)
c.*1018T>C (n.*1018T>C)
c.1222T>C (p.Phe408Leu)
c.991T>C (p.Phe331Leu)
c.1143-1078T>C (n.1143-1078T>C)
c.1234T>C (p.Phe412Leu)
9g.99146576T>GCA374233061TGFBR1c.1015T>G (p.Phe339Val)
c.1027T>G (p.Phe343Val)
c.*144T>G (n.*144T>G)
c.784T>G (p.Phe262Val)
c.*1018T>G (n.*1018T>G)
c.1222T>G (p.Phe408Val)
c.991T>G (p.Phe331Val)
c.1143-1078T>G (n.1143-1078T>G)
c.1234T>G (p.Phe412Val)
9g.99146576T=CA1867263925TGFBR1c.1015T= (p.Phe339=)
c.1027T= (p.Phe343=)
c.*144T= (n.*144T=)
c.784T= (p.Phe262=)
c.*1018T= (n.*1018T=)
c.1222T= (p.Phe408=)
c.991T= (p.Phe331=)
c.1143-1078T= (n.1143-1078T=)
c.1234T= (p.Phe412=)
9g.99146577T>ACA374233066TGFBR1c.1016T>A (p.Phe339Tyr)
c.1028T>A (p.Phe343Tyr)
c.*145T>A (n.*145T>A)
c.785T>A (p.Phe262Tyr)
c.*1019T>A (n.*1019T>A)
c.1223T>A (p.Phe408Tyr)
c.992T>A (p.Phe331Tyr)
c.1143-1077T>A (n.1143-1077T>A)
c.1235T>A (p.Phe412Tyr)
 gnomAD v4
9g.99146577T>CCA374233063TGFBR1c.1016T>C (p.Phe339Ser)
c.1028T>C (p.Phe343Ser)
c.*145T>C (n.*145T>C)
c.785T>C (p.Phe262Ser)
c.*1019T>C (n.*1019T>C)
c.1223T>C (p.Phe408Ser)
c.992T>C (p.Phe331Ser)
c.1143-1077T>C (n.1143-1077T>C)
c.1235T>C (p.Phe412Ser)
9g.99146577T>GCA374233064TGFBR1c.1016T>G (p.Phe339Cys)
c.1028T>G (p.Phe343Cys)
c.*145T>G (n.*145T>G)
c.785T>G (p.Phe262Cys)
c.*1019T>G (n.*1019T>G)
c.1223T>G (p.Phe408Cys)
c.992T>G (p.Phe331Cys)
c.1143-1077T>G (n.1143-1077T>G)
c.1235T>G (p.Phe412Cys)
9g.99146578C>ACA374233068TGFBR1c.1017C>A (p.Phe339Leu)
c.1029C>A (p.Phe343Leu)
c.*146C>A (n.*146C>A)
c.786C>A (p.Phe262Leu)
c.*1020C>A (n.*1020C>A)
c.1224C>A (p.Phe408Leu)
c.993C>A (p.Phe331Leu)
c.1143-1076C>A (n.1143-1076C>A)
c.1236C>A (p.Phe412Leu)
9g.99146578C>GCA374233070TGFBR1c.1017C>G (p.Phe339Leu)
c.1029C>G (p.Phe343Leu)
c.*146C>G (n.*146C>G)
c.786C>G (p.Phe262Leu)
c.*1020C>G (n.*1020C>G)
c.1224C>G (p.Phe408Leu)
c.993C>G (p.Phe331Leu)
c.1143-1076C>G (n.1143-1076C>G)
c.1236C>G (p.Phe412Leu)
9g.99146578C>TCA466435390TGFBR1c.1017C>T (p.Phe339=)
c.1029C>T (p.Phe343=)
c.*146C>T (n.*146C>T)
c.786C>T (p.Phe262=)
c.*1020C>T (n.*1020C>T)
c.1224C>T (p.Phe408=)
c.993C>T (p.Phe331=)
c.1143-1076C>T (n.1143-1076C>T)
c.1236C>T (p.Phe412=)
9g.99146579T>ACA374233073TGFBR1c.1018T>A (p.Trp340Arg)
c.1030T>A (p.Trp344Arg)
c.*147T>A (n.*147T>A)
c.787T>A (p.Trp263Arg)
c.*1021T>A (n.*1021T>A)
c.1225T>A (p.Trp409Arg)
c.994T>A (p.Trp332Arg)
c.1143-1075T>A (n.1143-1075T>A)
c.1237T>A (p.Trp413Arg)
9g.99146579T>CCA374233075TGFBR1c.1018T>C (p.Trp340Arg)
c.1030T>C (p.Trp344Arg)
c.*147T>C (n.*147T>C)
c.787T>C (p.Trp263Arg)
c.*1021T>C (n.*1021T>C)
c.1225T>C (p.Trp409Arg)
c.994T>C (p.Trp332Arg)
c.1143-1075T>C (n.1143-1075T>C)
c.1237T>C (p.Trp413Arg)
9g.99146579T>GCA374233077TGFBR1c.1018T>G (p.Trp340Gly)
c.1030T>G (p.Trp344Gly)
c.*147T>G (n.*147T>G)
c.787T>G (p.Trp263Gly)
c.*1021T>G (n.*1021T>G)
c.1225T>G (p.Trp409Gly)
c.994T>G (p.Trp332Gly)
c.1143-1075T>G (n.1143-1075T>G)
c.1237T>G (p.Trp413Gly)
9g.99146582_99146610dupCA2739264896TGFBR1c.1021_1048+1dup
c.1033_1060+1dup
c.*150_*177+1dup
c.790_817+1dup
c.*1024_*1051+1dup
c.1228_1255+1dup
c.997_1024+1dup
c.1143-1072_1143-1044dup (n.1143-1072_1143-1044dup)
c.1240_1267+1dup
 ClinVar
9g.99146580G>ACA374233083TGFBR1c.1019G>A (p.Trp340Ter)
c.1031G>A (p.Trp344Ter)
c.*148G>A (n.*148G>A)
c.788G>A (p.Trp263Ter)
c.*1022G>A (n.*1022G>A)
c.1226G>A (p.Trp409Ter)
c.995G>A (p.Trp332Ter)
c.1143-1074G>A (n.1143-1074G>A)
c.1238G>A (p.Trp413Ter)
9g.99146580G>CCA374233082TGFBR1c.1019G>C (p.Trp340Ser)
c.1031G>C (p.Trp344Ser)
c.*148G>C (n.*148G>C)
c.788G>C (p.Trp263Ser)
c.*1022G>C (n.*1022G>C)
c.1226G>C (p.Trp409Ser)
c.995G>C (p.Trp332Ser)
c.1143-1074G>C (n.1143-1074G>C)
c.1238G>C (p.Trp413Ser)
9g.99146580G>TCA374233080TGFBR1c.1019G>T (p.Trp340Leu)
c.1031G>T (p.Trp344Leu)
c.*148G>T (n.*148G>T)
c.788G>T (p.Trp263Leu)
c.*1022G>T (n.*1022G>T)
c.1226G>T (p.Trp409Leu)
c.995G>T (p.Trp332Leu)
c.1143-1074G>T (n.1143-1074G>T)
c.1238G>T (p.Trp413Leu)
9g.99146581G>ACA374233086TGFBR1c.1020G>A (p.Trp340Ter)
c.1032G>A (p.Trp344Ter)
c.*149G>A (n.*149G>A)
c.789G>A (p.Trp263Ter)
c.*1023G>A (n.*1023G>A)
c.1227G>A (p.Trp409Ter)
c.996G>A (p.Trp332Ter)
c.1143-1073G>A (n.1143-1073G>A)
c.1239G>A (p.Trp413Ter)
9g.99146581G>CCA374233088TGFBR1c.1020G>C (p.Trp340Cys)
c.1032G>C (p.Trp344Cys)
c.*149G>C (n.*149G>C)
c.789G>C (p.Trp263Cys)
c.*1023G>C (n.*1023G>C)
c.1227G>C (p.Trp409Cys)
c.996G>C (p.Trp332Cys)
c.1143-1073G>C (n.1143-1073G>C)
c.1239G>C (p.Trp413Cys)
9g.99146581G>TCA374233092TGFBR1c.1020G>T (p.Trp340Cys)
c.1032G>T (p.Trp344Cys)
c.*149G>T (n.*149G>T)
c.789G>T (p.Trp263Cys)
c.*1023G>T (n.*1023G>T)
c.1227G>T (p.Trp409Cys)
c.996G>T (p.Trp332Cys)
c.1143-1073G>T (n.1143-1073G>T)
c.1239G>T (p.Trp413Cys)
9g.99146582G>ACA374233094TGFBR1c.1021G>A (p.Glu341Lys)
c.1033G>A (p.Glu345Lys)
c.*150G>A (n.*150G>A)
c.790G>A (p.Glu264Lys)
c.*1024G>A (n.*1024G>A)
c.1228G>A (p.Glu410Lys)
c.997G>A (p.Glu333Lys)
c.1143-1072G>A (n.1143-1072G>A)
c.1240G>A (p.Glu414Lys)
9g.99146582G>CCA374233096TGFBR1c.1021G>C (p.Glu341Gln)
c.1033G>C (p.Glu345Gln)
c.*150G>C (n.*150G>C)
c.790G>C (p.Glu264Gln)
c.*1024G>C (n.*1024G>C)
c.1228G>C (p.Glu410Gln)
c.997G>C (p.Glu333Gln)
c.1143-1072G>C (n.1143-1072G>C)
c.1240G>C (p.Glu414Gln)
9g.99146582G>TCA374233100TGFBR1c.1021G>T (p.Glu341Ter)
c.1033G>T (p.Glu345Ter)
c.*150G>T (n.*150G>T)
c.790G>T (p.Glu264Ter)
c.*1024G>T (n.*1024G>T)
c.1228G>T (p.Glu410Ter)
c.997G>T (p.Glu333Ter)
c.1143-1072G>T (n.1143-1072G>T)
c.1240G>T (p.Glu414Ter)
9g.99146583A=CA1867263931TGFBR1c.1022A= (p.Glu341=)
c.1034A= (p.Glu345=)
c.*151A= (n.*151A=)
c.791A= (p.Glu264=)
c.*1025A= (n.*1025A=)
c.1229A= (p.Glu410=)
c.998A= (p.Glu333=)
c.1143-1071A= (n.1143-1071A=)
c.1241A= (p.Glu414=)
9g.99146583A>CCA374233103TGFBR1c.1022A>C (p.Glu341Ala)
c.1034A>C (p.Glu345Ala)
c.*151A>C (n.*151A>C)
c.791A>C (p.Glu264Ala)
c.*1025A>C (n.*1025A>C)
c.1229A>C (p.Glu410Ala)
c.998A>C (p.Glu333Ala)
c.1143-1071A>C (n.1143-1071A>C)
c.1241A>C (p.Glu414Ala)
 gnomAD v4
9g.99146583A>GCA374233107TGFBR1c.1022A>G (p.Glu341Gly)
c.1034A>G (p.Glu345Gly)
c.*151A>G (n.*151A>G)
c.791A>G (p.Glu264Gly)
c.*1025A>G (n.*1025A>G)
c.1229A>G (p.Glu410Gly)
c.998A>G (p.Glu333Gly)
c.1143-1071A>G (n.1143-1071A>G)
c.1241A>G (p.Glu414Gly)
 ClinVar dbSNP
9g.99146583A>TCA374233105TGFBR1c.1022A>T (p.Glu341Val)
c.1034A>T (p.Glu345Val)
c.*151A>T (n.*151A>T)
c.791A>T (p.Glu264Val)
c.*1025A>T (n.*1025A>T)
c.1229A>T (p.Glu410Val)
c.998A>T (p.Glu333Val)
c.1143-1071A>T (n.1143-1071A>T)
c.1241A>T (p.Glu414Val)
9g.99146592_99146620delCA2580610796TGFBR1c.1031_1048+11del
c.1043_1060+11del
c.*160_*177+11del
c.800_817+11del
c.*1034_*1051+11del
c.1238_1255+11del
c.1007_1024+11del
c.1143-1062_1143-1034del (n.1143-1062_1143-1034del)
c.1250_1267+11del
9g.99146584A=CA1867263933TGFBR1c.1023A= (p.Glu341=)
c.1035A= (p.Glu345=)
c.*152A= (n.*152A=)
c.792A= (p.Glu264=)
c.*1026A= (n.*1026A=)
c.1230A= (p.Glu410=)
c.999A= (p.Glu333=)
c.1143-1070A= (n.1143-1070A=)
c.1242A= (p.Glu414=)
9g.99146584A>CCA374233108TGFBR1c.1023A>C (p.Glu341Asp)
c.1035A>C (p.Glu345Asp)
c.*152A>C (n.*152A>C)
c.792A>C (p.Glu264Asp)
c.*1026A>C (n.*1026A>C)
c.1230A>C (p.Glu410Asp)
c.999A>C (p.Glu333Asp)
c.1143-1070A>C (n.1143-1070A>C)
c.1242A>C (p.Glu414Asp)
9g.99146584A>GCA466435392TGFBR1c.1023A>G (p.Glu341=)
c.1035A>G (p.Glu345=)
c.*152A>G (n.*152A>G)
c.792A>G (p.Glu264=)
c.*1026A>G (n.*1026A>G)
c.1230A>G (p.Glu410=)
c.999A>G (p.Glu333=)
c.1143-1070A>G (n.1143-1070A>G)
c.1242A>G (p.Glu414=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.99146584A>TCA374233109TGFBR1c.1023A>T (p.Glu341Asp)
c.1035A>T (p.Glu345Asp)
c.*152A>T (n.*152A>T)
c.792A>T (p.Glu264Asp)
c.*1026A>T (n.*1026A>T)
c.1230A>T (p.Glu410Asp)
c.999A>T (p.Glu333Asp)
c.1143-1070A>T (n.1143-1070A>T)
c.1242A>T (p.Glu414Asp)
9g.99146585A=CA1867263936TGFBR1c.1024A= (p.Ile342=)
c.1036A= (p.Ile346=)
c.*153A= (n.*153A=)
c.793A= (p.Ile265=)
c.*1027A= (n.*1027A=)
c.1231A= (p.Ile411=)
c.1000A= (p.Ile334=)
c.1143-1069A= (n.1143-1069A=)
c.1243A= (p.Ile415=)
9g.99146585A>CCA374233111TGFBR1c.1024A>C (p.Ile342Leu)
c.1036A>C (p.Ile346Leu)
c.*153A>C (n.*153A>C)
c.793A>C (p.Ile265Leu)
c.*1027A>C (n.*1027A>C)
c.1231A>C (p.Ile411Leu)
c.1000A>C (p.Ile334Leu)
c.1143-1069A>C (n.1143-1069A>C)
c.1243A>C (p.Ile415Leu)
9g.99146585A>GCA324752TGFBR1c.1024A>G (p.Ile342Val)
c.1036A>G (p.Ile346Val)
c.*153A>G (n.*153A>G)
c.793A>G (p.Ile265Val)
c.*1027A>G (n.*1027A>G)
c.1231A>G (p.Ile411Val)
c.1000A>G (p.Ile334Val)
c.1143-1069A>G (n.1143-1069A>G)
c.1243A>G (p.Ile415Val)
 ClinVar dbSNP
9g.99146585A>TCA374233113TGFBR1c.1024A>T (p.Ile342Phe)
c.1036A>T (p.Ile346Phe)
c.*153A>T (n.*153A>T)
c.793A>T (p.Ile265Phe)
c.*1027A>T (n.*1027A>T)
c.1231A>T (p.Ile411Phe)
c.1000A>T (p.Ile334Phe)
c.1143-1069A>T (n.1143-1069A>T)
c.1243A>T (p.Ile415Phe)
9g.99146586T>ACA374233115TGFBR1c.1025T>A (p.Ile342Asn)
c.1037T>A (p.Ile346Asn)
c.*154T>A (n.*154T>A)
c.794T>A (p.Ile265Asn)
c.*1028T>A (n.*1028T>A)
c.1232T>A (p.Ile411Asn)
c.1001T>A (p.Ile334Asn)
c.1143-1068T>A (n.1143-1068T>A)
c.1244T>A (p.Ile415Asn)
9g.99146586T>CCA039998TGFBR1c.1025T>C (p.Ile342Thr)
c.1037T>C (p.Ile346Thr)
c.*154T>C (n.*154T>C)
c.794T>C (p.Ile265Thr)
c.*1028T>C (n.*1028T>C)
c.1232T>C (p.Ile411Thr)
c.1001T>C (p.Ile334Thr)
c.1143-1068T>C (n.1143-1068T>C)
c.1244T>C (p.Ile415Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.99146586T>GCA374233118TGFBR1c.1025T>G (p.Ile342Ser)
c.1037T>G (p.Ile346Ser)
c.*154T>G (n.*154T>G)
c.794T>G (p.Ile265Ser)
c.*1028T>G (n.*1028T>G)
c.1232T>G (p.Ile411Ser)
c.1001T>G (p.Ile334Ser)
c.1143-1068T>G (n.1143-1068T>G)
c.1244T>G (p.Ile415Ser)
9g.99146586T=CA1867263938TGFBR1c.1025T= (p.Ile342=)
c.1037T= (p.Ile346=)
c.*154T= (n.*154T=)
c.794T= (p.Ile265=)
c.*1028T= (n.*1028T=)
c.1232T= (p.Ile411=)
c.1001T= (p.Ile334=)
c.1143-1068T= (n.1143-1068T=)
c.1244T= (p.Ile415=)
9g.99146587T>ACA466435394TGFBR1c.1026T>A (p.Ile342=)
c.1038T>A (p.Ile346=)
c.*155T>A (n.*155T>A)
c.795T>A (p.Ile265=)
c.*1029T>A (n.*1029T>A)
c.1233T>A (p.Ile411=)
c.1002T>A (p.Ile334=)
c.1143-1067T>A (n.1143-1067T>A)
c.1245T>A (p.Ile415=)
9g.99146587T>CCA466435395TGFBR1c.1026T>C (p.Ile342=)
c.1038T>C (p.Ile346=)
c.*155T>C (n.*155T>C)
c.795T>C (p.Ile265=)
c.*1029T>C (n.*1029T>C)
c.1233T>C (p.Ile411=)
c.1002T>C (p.Ile334=)
c.1143-1067T>C (n.1143-1067T>C)
c.1245T>C (p.Ile415=)
 gnomAD v4
9g.99146587T>GCA374233119TGFBR1c.1026T>G (p.Ile342Met)
c.1038T>G (p.Ile346Met)
c.*155T>G (n.*155T>G)
c.795T>G (p.Ile265Met)
c.*1029T>G (n.*1029T>G)
c.1233T>G (p.Ile411Met)
c.1002T>G (p.Ile334Met)
c.1143-1067T>G (n.1143-1067T>G)
c.1245T>G (p.Ile415Met)
9g.99146588G>ACA374233121TGFBR1c.1027G>A (p.Ala343Thr)
c.1039G>A (p.Ala347Thr)
c.*156G>A (n.*156G>A)
c.796G>A (p.Ala266Thr)
c.*1030G>A (n.*1030G>A)
c.1234G>A (p.Ala412Thr)
c.1003G>A (p.Ala335Thr)
c.1143-1066G>A (n.1143-1066G>A)
c.1246G>A (p.Ala416Thr)
 dbSNP
9g.99146588G>CCA374233123TGFBR1c.1027G>C (p.Ala343Pro)
c.1039G>C (p.Ala347Pro)
c.*156G>C (n.*156G>C)
c.796G>C (p.Ala266Pro)
c.*1030G>C (n.*1030G>C)
c.1234G>C (p.Ala412Pro)
c.1003G>C (p.Ala335Pro)
c.1143-1066G>C (n.1143-1066G>C)
c.1246G>C (p.Ala416Pro)
 gnomAD v4
9g.99146588G=CA1867263941TGFBR1c.1027G= (p.Ala343=)
c.1039G= (p.Ala347=)
c.*156G= (n.*156G=)
c.796G= (p.Ala266=)
c.*1030G= (n.*1030G=)
c.1234G= (p.Ala412=)
c.1003G= (p.Ala335=)
c.1143-1066G= (n.1143-1066G=)
c.1246G= (p.Ala416=)
9g.99146588G>TCA374233125TGFBR1c.1027G>T (p.Ala343Ser)
c.1039G>T (p.Ala347Ser)
c.*156G>T (n.*156G>T)
c.796G>T (p.Ala266Ser)
c.*1030G>T (n.*1030G>T)
c.1234G>T (p.Ala412Ser)
c.1003G>T (p.Ala335Ser)
c.1143-1066G>T (n.1143-1066G>T)
c.1246G>T (p.Ala416Ser)
 dbSNP
9g.99146589C>ACA374233131TGFBR1c.1028C>A (p.Ala343Asp)
c.1040C>A (p.Ala347Asp)
c.*157C>A (n.*157C>A)
c.797C>A (p.Ala266Asp)
c.*1031C>A (n.*1031C>A)
c.1235C>A (p.Ala412Asp)
c.1004C>A (p.Ala335Asp)
c.1143-1065C>A (n.1143-1065C>A)
c.1247C>A (p.Ala416Asp)
9g.99146589C=CA1867263944TGFBR1c.1028C= (p.Ala343=)
c.1040C= (p.Ala347=)
c.*157C= (n.*157C=)
c.797C= (p.Ala266=)
c.*1031C= (n.*1031C=)
c.1235C= (p.Ala412=)
c.1004C= (p.Ala335=)
c.1143-1065C= (n.1143-1065C=)
c.1247C= (p.Ala416=)
9g.99146589C>GCA196894221TGFBR1c.1028C>G (p.Ala343Gly)
c.1040C>G (p.Ala347Gly)
c.*157C>G (n.*157C>G)
c.797C>G (p.Ala266Gly)
c.*1031C>G (n.*1031C>G)
c.1235C>G (p.Ala412Gly)
c.1004C>G (p.Ala335Gly)
c.1143-1065C>G (n.1143-1065C>G)
c.1247C>G (p.Ala416Gly)
 dbSNP gnomAD v2 gnomAD v4
9g.99146589C>TCA374233128TGFBR1c.1028C>T (p.Ala343Val)
c.1040C>T (p.Ala347Val)
c.*157C>T (n.*157C>T)
c.797C>T (p.Ala266Val)
c.*1031C>T (n.*1031C>T)
c.1235C>T (p.Ala412Val)
c.1004C>T (p.Ala335Val)
c.1143-1065C>T (n.1143-1065C>T)
c.1247C>T (p.Ala416Val)
 dbSNP
9g.99146590T>ACA466435397TGFBR1c.1029T>A (p.Ala343=)
c.1041T>A (p.Ala347=)
c.*158T>A (n.*158T>A)
c.798T>A (p.Ala266=)
c.*1032T>A (n.*1032T>A)
c.1236T>A (p.Ala412=)
c.1005T>A (p.Ala335=)
c.1143-1064T>A (n.1143-1064T>A)
c.1248T>A (p.Ala416=)
9g.99146590T>CCA466435398TGFBR1c.1029T>C (p.Ala343=)
c.1041T>C (p.Ala347=)
c.*158T>C (n.*158T>C)
c.798T>C (p.Ala266=)
c.*1032T>C (n.*1032T>C)
c.1236T>C (p.Ala412=)
c.1005T>C (p.Ala335=)
c.1143-1064T>C (n.1143-1064T>C)
c.1248T>C (p.Ala416=)
9g.99146590T>GCA196894233TGFBR1c.1029T>G (p.Ala343=)
c.1041T>G (p.Ala347=)
c.*158T>G (n.*158T>G)
c.798T>G (p.Ala266=)
c.*1032T>G (n.*1032T>G)
c.1236T>G (p.Ala412=)
c.1005T>G (p.Ala335=)
c.1143-1064T>G (n.1143-1064T>G)
c.1248T>G (p.Ala416=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.99146590T=CA1867263948TGFBR1c.1029T= (p.Ala343=)
c.1041T= (p.Ala347=)
c.*158T= (n.*158T=)
c.798T= (p.Ala266=)
c.*1032T= (n.*1032T=)
c.1236T= (p.Ala412=)
c.1005T= (p.Ala335=)
c.1143-1064T= (n.1143-1064T=)
c.1248T= (p.Ala416=)
9g.99146591C>ACA466435399TGFBR1c.1030C>A (p.Arg344=)
c.1042C>A (p.Arg348=)
c.*159C>A (n.*159C>A)
c.799C>A (p.Arg267=)
c.*1033C>A (n.*1033C>A)
c.1237C>A (p.Arg413=)
c.1006C>A (p.Arg336=)
c.1143-1063C>A (n.1143-1063C>A)
c.1249C>A (p.Arg417=)
9g.99146591C=CA1867263956TGFBR1c.1030C= (p.Arg344=)
c.1042C= (p.Arg348=)
c.*159C= (n.*159C=)
c.799C= (p.Arg267=)
c.*1033C= (n.*1033C=)
c.1237C= (p.Arg413=)
c.1006C= (p.Arg336=)
c.1143-1063C= (n.1143-1063C=)
c.1249C= (p.Arg417=)
9g.99146591C>GCA374233135TGFBR1c.1030C>G (p.Arg344Gly)
c.1042C>G (p.Arg348Gly)
c.*159C>G (n.*159C>G)
c.799C>G (p.Arg267Gly)
c.*1033C>G (n.*1033C>G)
c.1237C>G (p.Arg413Gly)
c.1006C>G (p.Arg336Gly)
c.1143-1063C>G (n.1143-1063C>G)
c.1249C>G (p.Arg417Gly)
 ClinVar
9g.99146591C>TCA196894240TGFBR1c.1030C>T (p.Arg344Ter)
c.1042C>T (p.Arg348Ter)
c.*159C>T (n.*159C>T)
c.799C>T (p.Arg267Ter)
c.*1033C>T (n.*1033C>T)
c.1237C>T (p.Arg413Ter)
c.1006C>T (p.Arg336Ter)
c.1143-1063C>T (n.1143-1063C>T)
c.1249C>T (p.Arg417Ter)
 ClinVar dbSNP gnomAD v4 COSMIC
9g.99146592G>ACA374233137TGFBR1c.1031G>A (p.Arg344Gln)
c.1043G>A (p.Arg348Gln)
c.*160G>A (n.*160G>A)
c.800G>A (p.Arg267Gln)
c.*1034G>A (n.*1034G>A)
c.1238G>A (p.Arg413Gln)
c.1007G>A (p.Arg336Gln)
c.1143-1062G>A (n.1143-1062G>A)
c.1250G>A (p.Arg417Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.99146592G>CCA374233139TGFBR1c.1031G>C (p.Arg344Pro)
c.1043G>C (p.Arg348Pro)
c.*160G>C (n.*160G>C)
c.800G>C (p.Arg267Pro)
c.*1034G>C (n.*1034G>C)
c.1238G>C (p.Arg413Pro)
c.1007G>C (p.Arg336Pro)
c.1143-1062G>C (n.1143-1062G>C)
c.1250G>C (p.Arg417Pro)
9g.99146592G=CA1867263964TGFBR1c.1031G= (p.Arg344=)
c.1043G= (p.Arg348=)
c.*160G= (n.*160G=)
c.800G= (p.Arg267=)
c.*1034G= (n.*1034G=)
c.1238G= (p.Arg413=)
c.1007G= (p.Arg336=)
c.1143-1062G= (n.1143-1062G=)
c.1250G= (p.Arg417=)
9g.99146592G>TCA374233140TGFBR1c.1031G>T (p.Arg344Leu)
c.1043G>T (p.Arg348Leu)
c.*160G>T (n.*160G>T)
c.800G>T (p.Arg267Leu)
c.*1034G>T (n.*1034G>T)
c.1238G>T (p.Arg413Leu)
c.1007G>T (p.Arg336Leu)
c.1143-1062G>T (n.1143-1062G>T)
c.1250G>T (p.Arg417Leu)
9g.99146593A>CCA466435402TGFBR1c.1032A>C (p.Arg344=)
c.1044A>C (p.Arg348=)
c.*161A>C (n.*161A>C)
c.801A>C (p.Arg267=)
c.*1035A>C (n.*1035A>C)
c.1239A>C (p.Arg413=)
c.1008A>C (p.Arg336=)
c.1143-1061A>C (n.1143-1061A>C)
c.1251A>C (p.Arg417=)
 gnomAD v4
9g.99146593A>GCA466435401TGFBR1c.1032A>G (p.Arg344=)
c.1044A>G (p.Arg348=)
c.*161A>G (n.*161A>G)
c.801A>G (p.Arg267=)
c.*1035A>G (n.*1035A>G)
c.1239A>G (p.Arg413=)
c.1008A>G (p.Arg336=)
c.1143-1061A>G (n.1143-1061A>G)
c.1251A>G (p.Arg417=)
9g.99146593A>TCA466435400TGFBR1c.1032A>T (p.Arg344=)
c.1044A>T (p.Arg348=)
c.*161A>T (n.*161A>T)
c.801A>T (p.Arg267=)
c.*1035A>T (n.*1035A>T)
c.1239A>T (p.Arg413=)
c.1008A>T (p.Arg336=)
c.1143-1061A>T (n.1143-1061A>T)
c.1251A>T (p.Arg417=)
9g.99146594C>ACA466435403TGFBR1c.1033C>A (p.Arg345=)
c.1045C>A (p.Arg349=)
c.*162C>A (n.*162C>A)
c.802C>A (p.Arg268=)
c.*1036C>A (n.*1036C>A)
c.1240C>A (p.Arg414=)
c.1009C>A (p.Arg337=)
c.1143-1060C>A (n.1143-1060C>A)
c.1252C>A (p.Arg418=)
9g.99146594C=CA1867263967TGFBR1c.1033C= (p.Arg345=)
c.1045C= (p.Arg349=)
c.*162C= (n.*162C=)
c.802C= (p.Arg268=)
c.*1036C= (n.*1036C=)
c.1240C= (p.Arg414=)
c.1009C= (p.Arg337=)
c.1143-1060C= (n.1143-1060C=)
c.1252C= (p.Arg418=)
9g.99146594C>GCA374233143TGFBR1c.1033C>G (p.Arg345Gly)
c.1045C>G (p.Arg349Gly)
c.*162C>G (n.*162C>G)
c.802C>G (p.Arg268Gly)
c.*1036C>G (n.*1036C>G)
c.1240C>G (p.Arg414Gly)
c.1009C>G (p.Arg337Gly)
c.1143-1060C>G (n.1143-1060C>G)
c.1252C>G (p.Arg418Gly)
9g.99146594C>TCA008738TGFBR1c.1033C>T (p.Arg345Ter)
c.1045C>T (p.Arg349Ter)
c.*162C>T (n.*162C>T)
c.802C>T (p.Arg268Ter)
c.*1036C>T (n.*1036C>T)
c.1240C>T (p.Arg414Ter)
c.1009C>T (p.Arg337Ter)
c.1143-1060C>T (n.1143-1060C>T)
c.1252C>T (p.Arg418Ter)
 ClinVar dbSNP gnomAD v4
9g.99146595G>ACA374233145TGFBR1c.1034G>A (p.Arg345Gln)
c.1046G>A (p.Arg349Gln)
c.*163G>A (n.*163G>A)
c.803G>A (p.Arg268Gln)
c.*1037G>A (n.*1037G>A)
c.1241G>A (p.Arg414Gln)
c.1010G>A (p.Arg337Gln)
c.1143-1059G>A (n.1143-1059G>A)
c.1253G>A (p.Arg418Gln)
 dbSNP gnomAD v2 gnomAD v4
9g.99146595G>CCA374233147TGFBR1c.1034G>C (p.Arg345Pro)
c.1046G>C (p.Arg349Pro)
c.*163G>C (n.*163G>C)
c.803G>C (p.Arg268Pro)
c.*1037G>C (n.*1037G>C)
c.1241G>C (p.Arg414Pro)
c.1010G>C (p.Arg337Pro)
c.1143-1059G>C (n.1143-1059G>C)
c.1253G>C (p.Arg418Pro)
9g.99146595G=CA1867263972TGFBR1c.1034G= (p.Arg345=)
c.1046G= (p.Arg349=)
c.*163G= (n.*163G=)
c.803G= (p.Arg268=)
c.*1037G= (n.*1037G=)
c.1241G= (p.Arg414=)
c.1010G= (p.Arg337=)
c.1143-1059G= (n.1143-1059G=)
c.1253G= (p.Arg418=)
9g.99146595G>TCA374233149TGFBR1c.1034G>T (p.Arg345Leu)
c.1046G>T (p.Arg349Leu)
c.*163G>T (n.*163G>T)
c.803G>T (p.Arg268Leu)
c.*1037G>T (n.*1037G>T)
c.1241G>T (p.Arg414Leu)
c.1010G>T (p.Arg337Leu)
c.1143-1059G>T (n.1143-1059G>T)
c.1253G>T (p.Arg418Leu)
 dbSNP
9g.99146596A>CCA466435409TGFBR1c.1035A>C (p.Arg345=)
c.1047A>C (p.Arg349=)
c.*164A>C (n.*164A>C)
c.804A>C (p.Arg268=)
c.*1038A>C (n.*1038A>C)
c.1242A>C (p.Arg414=)
c.1011A>C (p.Arg337=)
c.1143-1058A>C (n.1143-1058A>C)
c.1254A>C (p.Arg418=)
9g.99146596A>GCA466435408TGFBR1c.1035A>G (p.Arg345=)
c.1047A>G (p.Arg349=)
c.*164A>G (n.*164A>G)
c.804A>G (p.Arg268=)
c.*1038A>G (n.*1038A>G)
c.1242A>G (p.Arg414=)
c.1011A>G (p.Arg337=)
c.1143-1058A>G (n.1143-1058A>G)
c.1254A>G (p.Arg418=)
 gnomAD v4
9g.99146596A>TCA466435406TGFBR1c.1035A>T (p.Arg345=)
c.1047A>T (p.Arg349=)
c.*164A>T (n.*164A>T)
c.804A>T (p.Arg268=)
c.*1038A>T (n.*1038A>T)
c.1242A>T (p.Arg414=)
c.1011A>T (p.Arg337=)
c.1143-1058A>T (n.1143-1058A>T)
c.1254A>T (p.Arg418=)
9g.99146597T>ACA374233152TGFBR1c.1036T>A (p.Cys346Ser)
c.1048T>A (p.Cys350Ser)
c.*165T>A (n.*165T>A)
c.805T>A (p.Cys269Ser)
c.*1039T>A (n.*1039T>A)
c.1243T>A (p.Cys415Ser)
c.1012T>A (p.Cys338Ser)
c.1143-1057T>A (n.1143-1057T>A)
c.1255T>A (p.Cys419Ser)
9g.99146597T>CCA374233154TGFBR1c.1036T>C (p.Cys346Arg)
c.1048T>C (p.Cys350Arg)
c.*165T>C (n.*165T>C)
c.805T>C (p.Cys269Arg)
c.*1039T>C (n.*1039T>C)
c.1243T>C (p.Cys415Arg)
c.1012T>C (p.Cys338Arg)
c.1143-1057T>C (n.1143-1057T>C)
c.1255T>C (p.Cys419Arg)
 dbSNP
9g.99146597T>GCA374233156TGFBR1c.1036T>G (p.Cys346Gly)
c.1048T>G (p.Cys350Gly)
c.*165T>G (n.*165T>G)
c.805T>G (p.Cys269Gly)
c.*1039T>G (n.*1039T>G)
c.1243T>G (p.Cys415Gly)
c.1012T>G (p.Cys338Gly)
c.1143-1057T>G (n.1143-1057T>G)
c.1255T>G (p.Cys419Gly)
9g.99146597T=CA1867263974TGFBR1c.1036T= (p.Cys346=)
c.1048T= (p.Cys350=)
c.*165T= (n.*165T=)
c.805T= (p.Cys269=)
c.*1039T= (n.*1039T=)
c.1243T= (p.Cys415=)
c.1012T= (p.Cys338=)
c.1143-1057T= (n.1143-1057T=)
c.1255T= (p.Cys419=)
9g.99146598G>ACA374233159TGFBR1c.1037G>A (p.Cys346Tyr)
c.1049G>A (p.Cys350Tyr)
c.*166G>A (n.*166G>A)
c.806G>A (p.Cys269Tyr)
c.*1040G>A (n.*1040G>A)
c.1244G>A (p.Cys415Tyr)
c.1013G>A (p.Cys338Tyr)
c.1143-1056G>A (n.1143-1056G>A)
c.1256G>A (p.Cys419Tyr)
 gnomAD v4
9g.99146598G>CCA374233162TGFBR1c.1037G>C (p.Cys346Ser)
c.1049G>C (p.Cys350Ser)
c.*166G>C (n.*166G>C)
c.806G>C (p.Cys269Ser)
c.*1040G>C (n.*1040G>C)
c.1244G>C (p.Cys415Ser)
c.1013G>C (p.Cys338Ser)
c.1143-1056G>C (n.1143-1056G>C)
c.1256G>C (p.Cys419Ser)
9g.99146598G>TCA374233160TGFBR1c.1037G>T (p.Cys346Phe)
c.1049G>T (p.Cys350Phe)
c.*166G>T (n.*166G>T)
c.806G>T (p.Cys269Phe)
c.*1040G>T (n.*1040G>T)
c.1244G>T (p.Cys415Phe)
c.1013G>T (p.Cys338Phe)
c.1143-1056G>T (n.1143-1056G>T)
c.1256G>T (p.Cys419Phe)
9g.99146599T>ACA374233164TGFBR1c.1038T>A (p.Cys346Ter)
c.1050T>A (p.Cys350Ter)
c.*167T>A (n.*167T>A)
c.807T>A (p.Cys269Ter)
c.*1041T>A (n.*1041T>A)
c.1245T>A (p.Cys415Ter)
c.1014T>A (p.Cys338Ter)
c.1143-1055T>A (n.1143-1055T>A)
c.1257T>A (p.Cys419Ter)
9g.99146599T>CCA466435410TGFBR1c.1038T>C (p.Cys346=)
c.1050T>C (p.Cys350=)
c.*167T>C (n.*167T>C)
c.807T>C (p.Cys269=)
c.*1041T>C (n.*1041T>C)
c.1245T>C (p.Cys415=)
c.1014T>C (p.Cys338=)
c.1143-1055T>C (n.1143-1055T>C)
c.1257T>C (p.Cys419=)
9g.99146599T>GCA374233165TGFBR1c.1038T>G (p.Cys346Trp)
c.1050T>G (p.Cys350Trp)
c.*167T>G (n.*167T>G)
c.807T>G (p.Cys269Trp)
c.*1041T>G (n.*1041T>G)
c.1245T>G (p.Cys415Trp)
c.1014T>G (p.Cys338Trp)
c.1143-1055T>G (n.1143-1055T>G)
c.1257T>G (p.Cys419Trp)
9g.99146600T>ACA374233167TGFBR1c.1039T>A (p.Ser347Thr)
c.1051T>A (p.Ser351Thr)
c.*168T>A (n.*168T>A)
c.808T>A (p.Ser270Thr)
c.*1042T>A (n.*1042T>A)
c.1246T>A (p.Ser416Thr)
c.1015T>A (p.Ser339Thr)
c.1143-1054T>A (n.1143-1054T>A)
c.1258T>A (p.Ser420Thr)
9g.99146600T>CCA374233169TGFBR1c.1039T>C (p.Ser347Pro)
c.1051T>C (p.Ser351Pro)
c.*168T>C (n.*168T>C)
c.808T>C (p.Ser270Pro)
c.*1042T>C (n.*1042T>C)
c.1246T>C (p.Ser416Pro)
c.1015T>C (p.Ser339Pro)
c.1143-1054T>C (n.1143-1054T>C)
c.1258T>C (p.Ser420Pro)
9g.99146600T>GCA374233170TGFBR1c.1039T>G (p.Ser347Ala)
c.1051T>G (p.Ser351Ala)
c.*168T>G (n.*168T>G)
c.808T>G (p.Ser270Ala)
c.*1042T>G (n.*1042T>G)
c.1246T>G (p.Ser416Ala)
c.1015T>G (p.Ser339Ala)
c.1143-1054T>G (n.1143-1054T>G)
c.1258T>G (p.Ser420Ala)
 dbSNP gnomAD v3 gnomAD v4
9g.99146600T=CA1867263977TGFBR1c.1039T= (p.Ser347=)
c.1051T= (p.Ser351=)
c.*168T= (n.*168T=)
c.808T= (p.Ser270=)
c.*1042T= (n.*1042T=)
c.1246T= (p.Ser416=)
c.1015T= (p.Ser339=)
c.1143-1054T= (n.1143-1054T=)
c.1258T= (p.Ser420=)
9g.99146601C>ACA374233173TGFBR1c.1040C>A (p.Ser347Tyr)
c.1052C>A (p.Ser351Tyr)
c.*169C>A (n.*169C>A)
c.809C>A (p.Ser270Tyr)
c.*1043C>A (n.*1043C>A)
c.1247C>A (p.Ser416Tyr)
c.1016C>A (p.Ser339Tyr)
c.1143-1053C>A (n.1143-1053C>A)
c.1259C>A (p.Ser420Tyr)
9g.99146601C=CA1867263980TGFBR1c.1040C= (p.Ser347=)
c.1052C= (p.Ser351=)
c.*169C= (n.*169C=)
c.809C= (p.Ser270=)
c.*1043C= (n.*1043C=)
c.1247C= (p.Ser416=)
c.1016C= (p.Ser339=)
c.1143-1053C= (n.1143-1053C=)
c.1259C= (p.Ser420=)
9g.99146601C>GCA374233175TGFBR1c.1040C>G (p.Ser347Cys)
c.1052C>G (p.Ser351Cys)
c.*169C>G (n.*169C>G)
c.809C>G (p.Ser270Cys)
c.*1043C>G (n.*1043C>G)
c.1247C>G (p.Ser416Cys)
c.1016C>G (p.Ser339Cys)
c.1143-1053C>G (n.1143-1053C>G)
c.1259C>G (p.Ser420Cys)
 dbSNP
9g.99146601C>TCA374233177TGFBR1c.1040C>T (p.Ser347Phe)
c.1052C>T (p.Ser351Phe)
c.*169C>T (n.*169C>T)
c.809C>T (p.Ser270Phe)
c.*1043C>T (n.*1043C>T)
c.1247C>T (p.Ser416Phe)
c.1016C>T (p.Ser339Phe)
c.1143-1053C>T (n.1143-1053C>T)
c.1259C>T (p.Ser420Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.99146602C>ACA466435414TGFBR1c.1041C>A (p.Ser347=)
c.1053C>A (p.Ser351=)
c.*170C>A (n.*170C>A)
c.810C>A (p.Ser270=)
c.*1044C>A (n.*1044C>A)
c.1248C>A (p.Ser416=)
c.1017C>A (p.Ser339=)
c.1143-1052C>A (n.1143-1052C>A)
c.1260C>A (p.Ser420=)
9g.99146602C>GCA466435415TGFBR1c.1041C>G (p.Ser347=)
c.1053C>G (p.Ser351=)
c.*170C>G (n.*170C>G)
c.810C>G (p.Ser270=)
c.*1044C>G (n.*1044C>G)
c.1248C>G (p.Ser416=)
c.1017C>G (p.Ser339=)
c.1143-1052C>G (n.1143-1052C>G)
c.1260C>G (p.Ser420=)
9g.99146602C>TCA466435416TGFBR1c.1041C>T (p.Ser347=)
c.1053C>T (p.Ser351=)
c.*170C>T (n.*170C>T)
c.810C>T (p.Ser270=)
c.*1044C>T (n.*1044C>T)
c.1248C>T (p.Ser416=)
c.1017C>T (p.Ser339=)
c.1143-1052C>T (n.1143-1052C>T)
c.1260C>T (p.Ser420=)
9g.99146603A=CA1867263988TGFBR1c.1042A= (p.Ile348=)
c.1054A= (p.Ile352=)
c.*171A= (n.*171A=)
c.811A= (p.Ile271=)
c.*1045A= (n.*1045A=)
c.1249A= (p.Ile417=)
c.1018A= (p.Ile340=)
c.1143-1051A= (n.1143-1051A=)
c.1261A= (p.Ile421=)
9g.99146603A>CCA374233180TGFBR1c.1042A>C (p.Ile348Leu)
c.1054A>C (p.Ile352Leu)
c.*171A>C (n.*171A>C)
c.811A>C (p.Ile271Leu)
c.*1045A>C (n.*1045A>C)
c.1249A>C (p.Ile417Leu)
c.1018A>C (p.Ile340Leu)
c.1143-1051A>C (n.1143-1051A>C)
c.1261A>C (p.Ile421Leu)
9g.99146603A>GCA040011TGFBR1c.1042A>G (p.Ile348Val)
c.1054A>G (p.Ile352Val)
c.*171A>G (n.*171A>G)
c.811A>G (p.Ile271Val)
c.*1045A>G (n.*1045A>G)
c.1249A>G (p.Ile417Val)
c.1018A>G (p.Ile340Val)
c.1143-1051A>G (n.1143-1051A>G)
c.1261A>G (p.Ile421Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.99146603A>TCA374233183TGFBR1c.1042A>T (p.Ile348Phe)
c.1054A>T (p.Ile352Phe)
c.*171A>T (n.*171A>T)
c.811A>T (p.Ile271Phe)
c.*1045A>T (n.*1045A>T)
c.1249A>T (p.Ile417Phe)
c.1018A>T (p.Ile340Phe)
c.1143-1051A>T (n.1143-1051A>T)
c.1261A>T (p.Ile421Phe)
 gnomAD v4
9g.99146604T>ACA374233185TGFBR1c.1043T>A (p.Ile348Asn)
c.1055T>A (p.Ile352Asn)
c.*172T>A (n.*172T>A)
c.812T>A (p.Ile271Asn)
c.*1046T>A (n.*1046T>A)
c.1250T>A (p.Ile417Asn)
c.1019T>A (p.Ile340Asn)
c.1143-1050T>A (n.1143-1050T>A)
c.1262T>A (p.Ile421Asn)
9g.99146604T>CCA374233187TGFBR1c.1043T>C (p.Ile348Thr)
c.1055T>C (p.Ile352Thr)
c.*172T>C (n.*172T>C)
c.812T>C (p.Ile271Thr)
c.*1046T>C (n.*1046T>C)
c.1250T>C (p.Ile417Thr)
c.1019T>C (p.Ile340Thr)
c.1143-1050T>C (n.1143-1050T>C)
c.1262T>C (p.Ile421Thr)
 ClinVar gnomAD v4
9g.99146604T>GCA374233188TGFBR1c.1043T>G (p.Ile348Ser)
c.1055T>G (p.Ile352Ser)
c.*172T>G (n.*172T>G)
c.812T>G (p.Ile271Ser)
c.*1046T>G (n.*1046T>G)
c.1250T>G (p.Ile417Ser)
c.1019T>G (p.Ile340Ser)
c.1143-1050T>G (n.1143-1050T>G)
c.1262T>G (p.Ile421Ser)
9g.99146605T>ACA466435418TGFBR1c.1044T>A (p.Ile348=)
c.1056T>A (p.Ile352=)
c.*173T>A (n.*173T>A)
c.813T>A (p.Ile271=)
c.*1047T>A (n.*1047T>A)
c.1251T>A (p.Ile417=)
c.1020T>A (p.Ile340=)
c.1143-1049T>A (n.1143-1049T>A)
c.1263T>A (p.Ile421=)
9g.99146605T>CCA466435419TGFBR1c.1044T>C (p.Ile348=)
c.1056T>C (p.Ile352=)
c.*173T>C (n.*173T>C)
c.813T>C (p.Ile271=)
c.*1047T>C (n.*1047T>C)
c.1251T>C (p.Ile417=)
c.1020T>C (p.Ile340=)
c.1143-1049T>C (n.1143-1049T>C)
c.1263T>C (p.Ile421=)
9g.99146605T>GCA374233190TGFBR1c.1044T>G (p.Ile348Met)
c.1056T>G (p.Ile352Met)
c.*173T>G (n.*173T>G)
c.813T>G (p.Ile271Met)
c.*1047T>G (n.*1047T>G)
c.1251T>G (p.Ile417Met)
c.1020T>G (p.Ile340Met)
c.1143-1049T>G (n.1143-1049T>G)
c.1263T>G (p.Ile421Met)
9g.99146606G>ACA374233194TGFBR1c.1045G>A (p.Gly349Ser)
c.1057G>A (p.Gly353Ser)
c.*174G>A (n.*174G>A)
c.814G>A (p.Gly272Ser)
c.*1048G>A (n.*1048G>A)
c.1252G>A (p.Gly418Ser)
c.1021G>A (p.Gly341Ser)
c.1143-1048G>A (n.1143-1048G>A)
c.1264G>A (p.Gly422Ser)
9g.99146606G>CCA374233192TGFBR1c.1045G>C (p.Gly349Arg)
c.1057G>C (p.Gly353Arg)
c.*174G>C (n.*174G>C)
c.814G>C (p.Gly272Arg)
c.*1048G>C (n.*1048G>C)
c.1252G>C (p.Gly418Arg)
c.1021G>C (p.Gly341Arg)
c.1143-1048G>C (n.1143-1048G>C)
c.1264G>C (p.Gly422Arg)
9g.99146606G>TCA374233193TGFBR1c.1045G>T (p.Gly349Cys)
c.1057G>T (p.Gly353Cys)
c.*174G>T (n.*174G>T)
c.814G>T (p.Gly272Cys)
c.*1048G>T (n.*1048G>T)
c.1252G>T (p.Gly418Cys)
c.1021G>T (p.Gly341Cys)
c.1143-1048G>T (n.1143-1048G>T)
c.1264G>T (p.Gly422Cys)

Number of alleles fetched