Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.99137884_99137895delCA645563374TGFBR1c.393_404del (p.Ile132_Thr135del)
c.405_416del (p.Ile136_Thr139del)
c.380-4652_380-4641del (n.380-4652_380-4641del)
c.162_173del (p.Ile55_Thr58del)
c.*396_*407del (n.*396_*407del)
c.600_611del (p.Ile201_Thr204del)
c.369_380del (p.Ile124_Thr127del)
c.612_623del (p.Ile205_Thr208del)
 COSMIC
9g.99137891_99137902dupCA2695210823TGFBR1c.400_411dup (p.Val137_Leu138insArgThrIleVal)
c.412_423dup (p.Val141_Leu142insArgThrIleVal)
c.380-4645_380-4634dup (n.380-4645_380-4634dup)
c.169_180dup (p.Val60_Leu61insArgThrIleVal)
c.*403_*414dup (n.*403_*414dup)
c.607_618dup (p.Val206_Leu207insArgThrIleVal)
c.376_387dup (p.Val129_Leu130insArgThrIleVal)
c.619_630dup (p.Val210_Leu211insArgThrIleVal)
9g.99137893A>CCA374229415TGFBR1c.402A>C (p.Arg134Ser)
c.414A>C (p.Arg138Ser)
c.380-4643A>C (n.380-4643A>C)
c.171A>C (p.Arg57Ser)
c.*405A>C (n.*405A>C)
c.609A>C (p.Arg203Ser)
c.378A>C (p.Arg126Ser)
c.621A>C (p.Arg207Ser)
 dbSNP
9g.99137893A>GCA466434151TGFBR1c.402A>G (p.Arg134=)
c.414A>G (p.Arg138=)
c.380-4643A>G (n.380-4643A>G)
c.171A>G (p.Arg57=)
c.*405A>G (n.*405A>G)
c.609A>G (p.Arg203=)
c.378A>G (p.Arg126=)
c.621A>G (p.Arg207=)
9g.99137893A>TCA374229417TGFBR1c.402A>T (p.Arg134Ser)
c.414A>T (p.Arg138Ser)
c.380-4643A>T (n.380-4643A>T)
c.171A>T (p.Arg57Ser)
c.*405A>T (n.*405A>T)
c.609A>T (p.Arg203Ser)
c.378A>T (p.Arg126Ser)
c.621A>T (p.Arg207Ser)
 dbSNP
9g.99137894A>CCA374229418TGFBR1c.403A>C (p.Thr135Pro)
c.415A>C (p.Thr139Pro)
c.380-4642A>C (n.380-4642A>C)
c.172A>C (p.Thr58Pro)
c.*406A>C (n.*406A>C)
c.610A>C (p.Thr204Pro)
c.379A>C (p.Thr127Pro)
c.622A>C (p.Thr208Pro)
9g.99137894A>GCA374229420TGFBR1c.403A>G (p.Thr135Ala)
c.415A>G (p.Thr139Ala)
c.380-4642A>G (n.380-4642A>G)
c.172A>G (p.Thr58Ala)
c.*406A>G (n.*406A>G)
c.610A>G (p.Thr204Ala)
c.379A>G (p.Thr127Ala)
c.622A>G (p.Thr208Ala)
9g.99137894A>TCA374229421TGFBR1c.403A>T (p.Thr135Ser)
c.415A>T (p.Thr139Ser)
c.380-4642A>T (n.380-4642A>T)
c.172A>T (p.Thr58Ser)
c.*406A>T (n.*406A>T)
c.610A>T (p.Thr204Ser)
c.379A>T (p.Thr127Ser)
c.622A>T (p.Thr208Ser)
 dbSNP
9g.99137895C>ACA374229425TGFBR1c.404C>A (p.Thr135Asn)
c.416C>A (p.Thr139Asn)
c.380-4641C>A (n.380-4641C>A)
c.173C>A (p.Thr58Asn)
c.*407C>A (n.*407C>A)
c.611C>A (p.Thr204Asn)
c.380C>A (p.Thr127Asn)
c.623C>A (p.Thr208Asn)
9g.99137895C=CA1867255624TGFBR1c.404C= (p.Thr135=)
c.416C= (p.Thr139=)
c.380-4641C= (n.380-4641C=)
c.173C= (p.Thr58=)
c.*407C= (n.*407C=)
c.611C= (p.Thr204=)
c.380C= (p.Thr127=)
c.623C= (p.Thr208=)
9g.99137895C>GCA374229424TGFBR1c.404C>G (p.Thr135Ser)
c.416C>G (p.Thr139Ser)
c.380-4641C>G (n.380-4641C>G)
c.173C>G (p.Thr58Ser)
c.*407C>G (n.*407C>G)
c.611C>G (p.Thr204Ser)
c.380C>G (p.Thr127Ser)
c.623C>G (p.Thr208Ser)
 dbSNP
9g.99137895C>TCA10587681TGFBR1c.404C>T (p.Thr135Ile)
c.416C>T (p.Thr139Ile)
c.380-4641C>T (n.380-4641C>T)
c.173C>T (p.Thr58Ile)
c.*407C>T (n.*407C>T)
c.611C>T (p.Thr204Ile)
c.380C>T (p.Thr127Ile)
c.623C>T (p.Thr208Ile)
 ClinVar dbSNP
9g.99137896T>ACA466434152TGFBR1c.405T>A (p.Thr135=)
c.417T>A (p.Thr139=)
c.380-4640T>A (n.380-4640T>A)
c.174T>A (p.Thr58=)
c.*408T>A (n.*408T>A)
c.612T>A (p.Thr204=)
c.381T>A (p.Thr127=)
c.624T>A (p.Thr208=)
 dbSNP gnomAD v2 gnomAD v4
9g.99137896T>CCA466434153TGFBR1c.405T>C (p.Thr135=)
c.417T>C (p.Thr139=)
c.380-4640T>C (n.380-4640T>C)
c.174T>C (p.Thr58=)
c.*408T>C (n.*408T>C)
c.612T>C (p.Thr204=)
c.381T>C (p.Thr127=)
c.624T>C (p.Thr208=)
9g.99137896T>GCA466434154TGFBR1c.405T>G (p.Thr135=)
c.417T>G (p.Thr139=)
c.380-4640T>G (n.380-4640T>G)
c.174T>G (p.Thr58=)
c.*408T>G (n.*408T>G)
c.612T>G (p.Thr204=)
c.381T>G (p.Thr127=)
c.624T>G (p.Thr208=)
 gnomAD v4
9g.99137896T=CA1867255628TGFBR1c.405T= (p.Thr135=)
c.417T= (p.Thr139=)
c.380-4640T= (n.380-4640T=)
c.174T= (p.Thr58=)
c.*408T= (n.*408T=)
c.612T= (p.Thr204=)
c.381T= (p.Thr127=)
c.624T= (p.Thr208=)
9g.99137897A=CA1867255631TGFBR1c.406A= (p.Ile136=)
c.418A= (p.Ile140=)
c.380-4639A= (n.380-4639A=)
c.175A= (p.Ile59=)
c.*409A= (n.*409A=)
c.613A= (p.Ile205=)
c.382A= (p.Ile128=)
c.625A= (p.Ile209=)
9g.99137897A>CCA374229427TGFBR1c.406A>C (p.Ile136Leu)
c.418A>C (p.Ile140Leu)
c.380-4639A>C (n.380-4639A>C)
c.175A>C (p.Ile59Leu)
c.*409A>C (n.*409A>C)
c.613A>C (p.Ile205Leu)
c.382A>C (p.Ile128Leu)
c.625A>C (p.Ile209Leu)
9g.99137897A>GCA324028TGFBR1c.406A>G (p.Ile136Val)
c.418A>G (p.Ile140Val)
c.380-4639A>G (n.380-4639A>G)
c.175A>G (p.Ile59Val)
c.*409A>G (n.*409A>G)
c.613A>G (p.Ile205Val)
c.382A>G (p.Ile128Val)
c.625A>G (p.Ile209Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.99137897A>TCA374229429TGFBR1c.406A>T (p.Ile136Phe)
c.418A>T (p.Ile140Phe)
c.380-4639A>T (n.380-4639A>T)
c.175A>T (p.Ile59Phe)
c.*409A>T (n.*409A>T)
c.613A>T (p.Ile205Phe)
c.382A>T (p.Ile128Phe)
c.625A>T (p.Ile209Phe)
 dbSNP
9g.99137898T>ACA374229431TGFBR1c.407T>A (p.Ile136Asn)
c.419T>A (p.Ile140Asn)
c.380-4638T>A (n.380-4638T>A)
c.176T>A (p.Ile59Asn)
c.*410T>A (n.*410T>A)
c.614T>A (p.Ile205Asn)
c.383T>A (p.Ile128Asn)
c.626T>A (p.Ile209Asn)
9g.99137898T>CCA325251TGFBR1c.407T>C (p.Ile136Thr)
c.419T>C (p.Ile140Thr)
c.380-4638T>C (n.380-4638T>C)
c.176T>C (p.Ile59Thr)
c.*410T>C (n.*410T>C)
c.614T>C (p.Ile205Thr)
c.383T>C (p.Ile128Thr)
c.626T>C (p.Ile209Thr)
 dbSNP gnomAD v3 gnomAD v4
9g.99137898T>GCA374229433TGFBR1c.407T>G (p.Ile136Ser)
c.419T>G (p.Ile140Ser)
c.380-4638T>G (n.380-4638T>G)
c.176T>G (p.Ile59Ser)
c.*410T>G (n.*410T>G)
c.614T>G (p.Ile205Ser)
c.383T>G (p.Ile128Ser)
c.626T>G (p.Ile209Ser)
9g.99137898T=CA1867255639TGFBR1c.407T= (p.Ile136=)
c.419T= (p.Ile140=)
c.380-4638T= (n.380-4638T=)
c.176T= (p.Ile59=)
c.*410T= (n.*410T=)
c.614T= (p.Ile205=)
c.383T= (p.Ile128=)
c.626T= (p.Ile209=)
9g.99137899T>ACA466434155TGFBR1c.408T>A (p.Ile136=)
c.420T>A (p.Ile140=)
c.380-4637T>A (n.380-4637T>A)
c.177T>A (p.Ile59=)
c.*411T>A (n.*411T>A)
c.615T>A (p.Ile205=)
c.384T>A (p.Ile128=)
c.627T>A (p.Ile209=)
9g.99137899T>CCA466434156TGFBR1c.408T>C (p.Ile136=)
c.420T>C (p.Ile140=)
c.380-4637T>C (n.380-4637T>C)
c.177T>C (p.Ile59=)
c.*411T>C (n.*411T>C)
c.615T>C (p.Ile205=)
c.384T>C (p.Ile128=)
c.627T>C (p.Ile209=)
 dbSNP
9g.99137899T>GCA374229434TGFBR1c.408T>G (p.Ile136Met)
c.420T>G (p.Ile140Met)
c.380-4637T>G (n.380-4637T>G)
c.177T>G (p.Ile59Met)
c.*411T>G (n.*411T>G)
c.615T>G (p.Ile205Met)
c.384T>G (p.Ile128Met)
c.627T>G (p.Ile209Met)
 ClinVar
9g.99137900G>ACA374229435TGFBR1c.409G>A (p.Val137Met)
c.421G>A (p.Val141Met)
c.380-4636G>A (n.380-4636G>A)
c.178G>A (p.Val60Met)
c.*412G>A (n.*412G>A)
c.616G>A (p.Val206Met)
c.385G>A (p.Val129Met)
c.628G>A (p.Val210Met)
 dbSNP
9g.99137900G>CCA374229436TGFBR1c.409G>C (p.Val137Leu)
c.421G>C (p.Val141Leu)
c.380-4636G>C (n.380-4636G>C)
c.178G>C (p.Val60Leu)
c.*412G>C (n.*412G>C)
c.616G>C (p.Val206Leu)
c.385G>C (p.Val129Leu)
c.628G>C (p.Val210Leu)
 dbSNP
9g.99137900G>TCA374229438TGFBR1c.409G>T (p.Val137Leu)
c.421G>T (p.Val141Leu)
c.380-4636G>T (n.380-4636G>T)
c.178G>T (p.Val60Leu)
c.*412G>T (n.*412G>T)
c.616G>T (p.Val206Leu)
c.385G>T (p.Val129Leu)
c.628G>T (p.Val210Leu)
 dbSNP gnomAD v3 gnomAD v4
9g.99137901T>ACA374229440TGFBR1c.410T>A (p.Val137Glu)
c.422T>A (p.Val141Glu)
c.380-4635T>A (n.380-4635T>A)
c.179T>A (p.Val60Glu)
c.*413T>A (n.*413T>A)
c.617T>A (p.Val206Glu)
c.386T>A (p.Val129Glu)
c.629T>A (p.Val210Glu)
 dbSNP
9g.99137901T>CCA374229442TGFBR1c.410T>C (p.Val137Ala)
c.422T>C (p.Val141Ala)
c.380-4635T>C (n.380-4635T>C)
c.179T>C (p.Val60Ala)
c.*413T>C (n.*413T>C)
c.617T>C (p.Val206Ala)
c.386T>C (p.Val129Ala)
c.629T>C (p.Val210Ala)
 ClinVar dbSNP gnomAD v4
9g.99137901T>GCA374229443TGFBR1c.410T>G (p.Val137Gly)
c.422T>G (p.Val141Gly)
c.380-4635T>G (n.380-4635T>G)
c.179T>G (p.Val60Gly)
c.*413T>G (n.*413T>G)
c.617T>G (p.Val206Gly)
c.386T>G (p.Val129Gly)
c.629T>G (p.Val210Gly)
 dbSNP
9g.99137901T=CA1867255644TGFBR1c.410T= (p.Val137=)
c.422T= (p.Val141=)
c.380-4635T= (n.380-4635T=)
c.179T= (p.Val60=)
c.*413T= (n.*413T=)
c.617T= (p.Val206=)
c.386T= (p.Val129=)
c.629T= (p.Val210=)
9g.99137902G>ACA466434157TGFBR1c.411G>A (p.Val137=)
c.423G>A (p.Val141=)
c.380-4634G>A (n.380-4634G>A)
c.180G>A (p.Val60=)
c.*414G>A (n.*414G>A)
c.618G>A (p.Val206=)
c.387G>A (p.Val129=)
c.630G>A (p.Val210=)
9g.99137902G>CCA466434158TGFBR1c.411G>C (p.Val137=)
c.423G>C (p.Val141=)
c.380-4634G>C (n.380-4634G>C)
c.180G>C (p.Val60=)
c.*414G>C (n.*414G>C)
c.618G>C (p.Val206=)
c.387G>C (p.Val129=)
c.630G>C (p.Val210=)
 dbSNP
9g.99137902G=CA1867255650TGFBR1c.411G= (p.Val137=)
c.423G= (p.Val141=)
c.380-4634G= (n.380-4634G=)
c.180G= (p.Val60=)
c.*414G= (n.*414G=)
c.618G= (p.Val206=)
c.387G= (p.Val129=)
c.630G= (p.Val210=)
9g.99137902G>TCA16605588TGFBR1c.411G>T (p.Val137=)
c.423G>T (p.Val141=)
c.380-4634G>T (n.380-4634G>T)
c.180G>T (p.Val60=)
c.*414G>T (n.*414G>T)
c.618G>T (p.Val206=)
c.387G>T (p.Val129=)
c.630G>T (p.Val210=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.99137903T>ACA374229446TGFBR1c.412T>A (p.Leu138Ile)
c.424T>A (p.Leu142Ile)
c.380-4633T>A (n.380-4633T>A)
c.181T>A (p.Leu61Ile)
c.*415T>A (n.*415T>A)
c.619T>A (p.Leu207Ile)
c.388T>A (p.Leu130Ile)
c.631T>A (p.Leu211Ile)
 dbSNP
9g.99137903T>CCA466434159TGFBR1c.412T>C (p.Leu138=)
c.424T>C (p.Leu142=)
c.380-4633T>C (n.380-4633T>C)
c.181T>C (p.Leu61=)
c.*415T>C (n.*415T>C)
c.619T>C (p.Leu207=)
c.388T>C (p.Leu130=)
c.631T>C (p.Leu211=)
 dbSNP
9g.99137903T>GCA374229444TGFBR1c.412T>G (p.Leu138Val)
c.424T>G (p.Leu142Val)
c.380-4633T>G (n.380-4633T>G)
c.181T>G (p.Leu61Val)
c.*415T>G (n.*415T>G)
c.619T>G (p.Leu207Val)
c.388T>G (p.Leu130Val)
c.631T>G (p.Leu211Val)
9g.99137904T>ACA374229448TGFBR1c.413T>A (p.Leu138Ter)
c.425T>A (p.Leu142Ter)
c.380-4632T>A (n.380-4632T>A)
c.182T>A (p.Leu61Ter)
c.*416T>A (n.*416T>A)
c.620T>A (p.Leu207Ter)
c.389T>A (p.Leu130Ter)
c.632T>A (p.Leu211Ter)
 dbSNP
9g.99137904T>CCA374229450TGFBR1c.413T>C (p.Leu138Ser)
c.425T>C (p.Leu142Ser)
c.380-4632T>C (n.380-4632T>C)
c.182T>C (p.Leu61Ser)
c.*416T>C (n.*416T>C)
c.620T>C (p.Leu207Ser)
c.389T>C (p.Leu130Ser)
c.632T>C (p.Leu211Ser)
 ClinVar dbSNP
9g.99137904T>GCA374229451TGFBR1c.413T>G (p.Leu138Ter)
c.425T>G (p.Leu142Ter)
c.380-4632T>G (n.380-4632T>G)
c.182T>G (p.Leu61Ter)
c.*416T>G (n.*416T>G)
c.620T>G (p.Leu207Ter)
c.389T>G (p.Leu130Ter)
c.632T>G (p.Leu211Ter)
 dbSNP
9g.99137905A>CCA374229454TGFBR1c.414A>C (p.Leu138Phe)
c.426A>C (p.Leu142Phe)
c.380-4631A>C (n.380-4631A>C)
c.183A>C (p.Leu61Phe)
c.*417A>C (n.*417A>C)
c.621A>C (p.Leu207Phe)
c.390A>C (p.Leu130Phe)
c.633A>C (p.Leu211Phe)
9g.99137905A>GCA466434160TGFBR1c.414A>G (p.Leu138=)
c.426A>G (p.Leu142=)
c.380-4631A>G (n.380-4631A>G)
c.183A>G (p.Leu61=)
c.*417A>G (n.*417A>G)
c.621A>G (p.Leu207=)
c.390A>G (p.Leu130=)
c.633A>G (p.Leu211=)
 dbSNP
9g.99137905A>TCA374229455TGFBR1c.414A>T (p.Leu138Phe)
c.426A>T (p.Leu142Phe)
c.380-4631A>T (n.380-4631A>T)
c.183A>T (p.Leu61Phe)
c.*417A>T (n.*417A>T)
c.621A>T (p.Leu207Phe)
c.390A>T (p.Leu130Phe)
c.633A>T (p.Leu211Phe)
 dbSNP
9g.99137906C>ACA374229457TGFBR1c.415C>A (p.Gln139Lys)
c.427C>A (p.Gln143Lys)
c.380-4630C>A (n.380-4630C>A)
c.184C>A (p.Gln62Lys)
c.*418C>A (n.*418C>A)
c.622C>A (p.Gln208Lys)
c.391C>A (p.Gln131Lys)
c.634C>A (p.Gln212Lys)
 dbSNP
9g.99137906C=CA1867255655TGFBR1c.415C= (p.Gln139=)
c.427C= (p.Gln143=)
c.380-4630C= (n.380-4630C=)
c.184C= (p.Gln62=)
c.*418C= (n.*418C=)
c.622C= (p.Gln208=)
c.391C= (p.Gln131=)
c.634C= (p.Gln212=)
9g.99137906C>GCA374229459TGFBR1c.415C>G (p.Gln139Glu)
c.427C>G (p.Gln143Glu)
c.380-4630C>G (n.380-4630C>G)
c.184C>G (p.Gln62Glu)
c.*418C>G (n.*418C>G)
c.622C>G (p.Gln208Glu)
c.391C>G (p.Gln131Glu)
c.634C>G (p.Gln212Glu)
 dbSNP
9g.99137906C>TCA374229460TGFBR1c.415C>T (p.Gln139Ter)
c.427C>T (p.Gln143Ter)
c.380-4630C>T (n.380-4630C>T)
c.184C>T (p.Gln62Ter)
c.*418C>T (n.*418C>T)
c.622C>T (p.Gln208Ter)
c.391C>T (p.Gln131Ter)
c.634C>T (p.Gln212Ter)
 dbSNP
9g.99137907A=CA1867255661TGFBR1c.416A= (p.Gln139=)
c.428A= (p.Gln143=)
c.380-4629A= (n.380-4629A=)
c.185A= (p.Gln62=)
c.*419A= (n.*419A=)
c.623A= (p.Gln208=)
c.392A= (p.Gln131=)
c.635A= (p.Gln212=)
9g.99137907A>CCA374229462TGFBR1c.416A>C (p.Gln139Pro)
c.428A>C (p.Gln143Pro)
c.380-4629A>C (n.380-4629A>C)
c.185A>C (p.Gln62Pro)
c.*419A>C (n.*419A>C)
c.623A>C (p.Gln208Pro)
c.392A>C (p.Gln131Pro)
c.635A>C (p.Gln212Pro)
 ClinVar dbSNP
9g.99137907A>GCA374229463TGFBR1c.416A>G (p.Gln139Arg)
c.428A>G (p.Gln143Arg)
c.380-4629A>G (n.380-4629A>G)
c.185A>G (p.Gln62Arg)
c.*419A>G (n.*419A>G)
c.623A>G (p.Gln208Arg)
c.392A>G (p.Gln131Arg)
c.635A>G (p.Gln212Arg)
9g.99137907A>TCA374229465TGFBR1c.416A>T (p.Gln139Leu)
c.428A>T (p.Gln143Leu)
c.380-4629A>T (n.380-4629A>T)
c.185A>T (p.Gln62Leu)
c.*419A>T (n.*419A>T)
c.623A>T (p.Gln208Leu)
c.392A>T (p.Gln131Leu)
c.635A>T (p.Gln212Leu)
 ClinVar dbSNP
9g.99137908A>CCA374229467TGFBR1c.417A>C (p.Gln139His)
c.429A>C (p.Gln143His)
c.380-4628A>C (n.380-4628A>C)
c.186A>C (p.Gln62His)
c.*420A>C (n.*420A>C)
c.624A>C (p.Gln208His)
c.393A>C (p.Gln131His)
c.636A>C (p.Gln212His)
9g.99137908A>GCA466434161TGFBR1c.417A>G (p.Gln139=)
c.429A>G (p.Gln143=)
c.380-4628A>G (n.380-4628A>G)
c.186A>G (p.Gln62=)
c.*420A>G (n.*420A>G)
c.624A>G (p.Gln208=)
c.393A>G (p.Gln131=)
c.636A>G (p.Gln212=)
9g.99137908A>TCA374229468TGFBR1c.417A>T (p.Gln139His)
c.429A>T (p.Gln143His)
c.380-4628A>T (n.380-4628A>T)
c.186A>T (p.Gln62His)
c.*420A>T (n.*420A>T)
c.624A>T (p.Gln208His)
c.393A>T (p.Gln131His)
c.636A>T (p.Gln212His)
 dbSNP
9g.99137909G>ACA374229473TGFBR1c.418G>A (p.Glu140Lys)
c.430G>A (p.Glu144Lys)
c.380-4627G>A (n.380-4627G>A)
c.187G>A (p.Glu63Lys)
c.*421G>A (n.*421G>A)
c.625G>A (p.Glu209Lys)
c.394G>A (p.Glu132Lys)
c.637G>A (p.Glu213Lys)
 dbSNP
9g.99137909G>CCA374229471TGFBR1c.418G>C (p.Glu140Gln)
c.430G>C (p.Glu144Gln)
c.380-4627G>C (n.380-4627G>C)
c.187G>C (p.Glu63Gln)
c.*421G>C (n.*421G>C)
c.625G>C (p.Glu209Gln)
c.394G>C (p.Glu132Gln)
c.637G>C (p.Glu213Gln)
 COSMIC
9g.99137909G>TCA374229470TGFBR1c.418G>T (p.Glu140Ter)
c.430G>T (p.Glu144Ter)
c.380-4627G>T (n.380-4627G>T)
c.187G>T (p.Glu63Ter)
c.*421G>T (n.*421G>T)
c.625G>T (p.Glu209Ter)
c.394G>T (p.Glu132Ter)
c.637G>T (p.Glu213Ter)
9g.99137910A>CCA374229475TGFBR1c.419A>C (p.Glu140Ala)
c.431A>C (p.Glu144Ala)
c.380-4626A>C (n.380-4626A>C)
c.188A>C (p.Glu63Ala)
c.*422A>C (n.*422A>C)
c.626A>C (p.Glu209Ala)
c.395A>C (p.Glu132Ala)
c.638A>C (p.Glu213Ala)
9g.99137910A>GCA374229478TGFBR1c.419A>G (p.Glu140Gly)
c.431A>G (p.Glu144Gly)
c.380-4626A>G (n.380-4626A>G)
c.188A>G (p.Glu63Gly)
c.*422A>G (n.*422A>G)
c.626A>G (p.Glu209Gly)
c.395A>G (p.Glu132Gly)
c.638A>G (p.Glu213Gly)
9g.99137910A>TCA374229477TGFBR1c.419A>T (p.Glu140Val)
c.431A>T (p.Glu144Val)
c.380-4626A>T (n.380-4626A>T)
c.188A>T (p.Glu63Val)
c.*422A>T (n.*422A>T)
c.626A>T (p.Glu209Val)
c.395A>T (p.Glu132Val)
c.638A>T (p.Glu213Val)
 dbSNP
9g.99137911A>CCA374229479TGFBR1c.420A>C (p.Glu140Asp)
c.432A>C (p.Glu144Asp)
c.380-4625A>C (n.380-4625A>C)
c.189A>C (p.Glu63Asp)
c.*423A>C (n.*423A>C)
c.627A>C (p.Glu209Asp)
c.396A>C (p.Glu132Asp)
c.639A>C (p.Glu213Asp)
 gnomAD v4
9g.99137911A>GCA466434162TGFBR1c.420A>G (p.Glu140=)
c.432A>G (p.Glu144=)
c.380-4625A>G (n.380-4625A>G)
c.189A>G (p.Glu63=)
c.*423A>G (n.*423A>G)
c.627A>G (p.Glu209=)
c.396A>G (p.Glu132=)
c.639A>G (p.Glu213=)
9g.99137911A>TCA374229480TGFBR1c.420A>T (p.Glu140Asp)
c.432A>T (p.Glu144Asp)
c.380-4625A>T (n.380-4625A>T)
c.189A>T (p.Glu63Asp)
c.*423A>T (n.*423A>T)
c.627A>T (p.Glu209Asp)
c.396A>T (p.Glu132Asp)
c.639A>T (p.Glu213Asp)
 dbSNP
9g.99137912A>CCA374229481TGFBR1c.421A>C (p.Ser141Arg)
c.433A>C (p.Ser145Arg)
c.380-4624A>C (n.380-4624A>C)
c.190A>C (p.Ser64Arg)
c.*424A>C (n.*424A>C)
c.628A>C (p.Ser210Arg)
c.397A>C (p.Ser133Arg)
c.640A>C (p.Ser214Arg)
 gnomAD v4
9g.99137912A>GCA374229485TGFBR1c.421A>G (p.Ser141Gly)
c.433A>G (p.Ser145Gly)
c.380-4624A>G (n.380-4624A>G)
c.190A>G (p.Ser64Gly)
c.*424A>G (n.*424A>G)
c.628A>G (p.Ser210Gly)
c.397A>G (p.Ser133Gly)
c.640A>G (p.Ser214Gly)
 gnomAD v4
9g.99137912A>TCA374229483TGFBR1c.421A>T (p.Ser141Cys)
c.433A>T (p.Ser145Cys)
c.380-4624A>T (n.380-4624A>T)
c.190A>T (p.Ser64Cys)
c.*424A>T (n.*424A>T)
c.628A>T (p.Ser210Cys)
c.397A>T (p.Ser133Cys)
c.640A>T (p.Ser214Cys)
9g.99137913G>ACA374229486TGFBR1c.422G>A (p.Ser141Asn)
c.434G>A (p.Ser145Asn)
c.380-4623G>A (n.380-4623G>A)
c.191G>A (p.Ser64Asn)
c.*425G>A (n.*425G>A)
c.629G>A (p.Ser210Asn)
c.398G>A (p.Ser133Asn)
c.641G>A (p.Ser214Asn)
 dbSNP
9g.99137913G>CCA374229488TGFBR1c.422G>C (p.Ser141Thr)
c.434G>C (p.Ser145Thr)
c.380-4623G>C (n.380-4623G>C)
c.191G>C (p.Ser64Thr)
c.*425G>C (n.*425G>C)
c.629G>C (p.Ser210Thr)
c.398G>C (p.Ser133Thr)
c.641G>C (p.Ser214Thr)
 dbSNP
9g.99137913G>TCA374229487TGFBR1c.422G>T (p.Ser141Ile)
c.434G>T (p.Ser145Ile)
c.380-4623G>T (n.380-4623G>T)
c.191G>T (p.Ser64Ile)
c.*425G>T (n.*425G>T)
c.629G>T (p.Ser210Ile)
c.398G>T (p.Ser133Ile)
c.641G>T (p.Ser214Ile)
 dbSNP
9g.99137914C>ACA374229490TGFBR1c.423C>A (p.Ser141Arg)
c.435C>A (p.Ser145Arg)
c.380-4622C>A (n.380-4622C>A)
c.192C>A (p.Ser64Arg)
c.*426C>A (n.*426C>A)
c.630C>A (p.Ser210Arg)
c.399C>A (p.Ser133Arg)
c.642C>A (p.Ser214Arg)
 dbSNP
9g.99137914C>GCA374229492TGFBR1c.423C>G (p.Ser141Arg)
c.435C>G (p.Ser145Arg)
c.380-4622C>G (n.380-4622C>G)
c.192C>G (p.Ser64Arg)
c.*426C>G (n.*426C>G)
c.630C>G (p.Ser210Arg)
c.399C>G (p.Ser133Arg)
c.642C>G (p.Ser214Arg)
 ClinVar dbSNP
9g.99137914C>TCA466434163TGFBR1c.423C>T (p.Ser141=)
c.435C>T (p.Ser145=)
c.380-4622C>T (n.380-4622C>T)
c.192C>T (p.Ser64=)
c.*426C>T (n.*426C>T)
c.630C>T (p.Ser210=)
c.399C>T (p.Ser133=)
c.642C>T (p.Ser214=)
 dbSNP gnomAD v4
9g.99137915A>CCA374229494TGFBR1c.424A>C (p.Ile142Leu)
c.436A>C (p.Ile146Leu)
c.380-4621A>C (n.380-4621A>C)
c.193A>C (p.Ile65Leu)
c.*427A>C (n.*427A>C)
c.631A>C (p.Ile211Leu)
c.400A>C (p.Ile134Leu)
c.643A>C (p.Ile215Leu)
9g.99137915A>GCA374229495TGFBR1c.424A>G (p.Ile142Val)
c.436A>G (p.Ile146Val)
c.380-4621A>G (n.380-4621A>G)
c.193A>G (p.Ile65Val)
c.*427A>G (n.*427A>G)
c.631A>G (p.Ile211Val)
c.400A>G (p.Ile134Val)
c.643A>G (p.Ile215Val)
 dbSNP
9g.99137915A>TCA374229496TGFBR1c.424A>T (p.Ile142Phe)
c.436A>T (p.Ile146Phe)
c.380-4621A>T (n.380-4621A>T)
c.193A>T (p.Ile65Phe)
c.*427A>T (n.*427A>T)
c.631A>T (p.Ile211Phe)
c.400A>T (p.Ile134Phe)
c.643A>T (p.Ile215Phe)
 dbSNP
9g.99137916T>ACA374229497TGFBR1c.425T>A (p.Ile142Asn)
c.437T>A (p.Ile146Asn)
c.380-4620T>A (n.380-4620T>A)
c.194T>A (p.Ile65Asn)
c.*428T>A (n.*428T>A)
c.632T>A (p.Ile211Asn)
c.401T>A (p.Ile134Asn)
c.644T>A (p.Ile215Asn)
9g.99137916T>CCA374229498TGFBR1c.425T>C (p.Ile142Thr)
c.437T>C (p.Ile146Thr)
c.380-4620T>C (n.380-4620T>C)
c.194T>C (p.Ile65Thr)
c.*428T>C (n.*428T>C)
c.632T>C (p.Ile211Thr)
c.401T>C (p.Ile134Thr)
c.644T>C (p.Ile215Thr)
9g.99137916T>GCA374229499TGFBR1c.425T>G (p.Ile142Ser)
c.437T>G (p.Ile146Ser)
c.380-4620T>G (n.380-4620T>G)
c.194T>G (p.Ile65Ser)
c.*428T>G (n.*428T>G)
c.632T>G (p.Ile211Ser)
c.401T>G (p.Ile134Ser)
c.644T>G (p.Ile215Ser)
9g.99137916T=CA1867255667TGFBR1c.425T= (p.Ile142=)
c.437T= (p.Ile146=)
c.380-4620T= (n.380-4620T=)
c.194T= (p.Ile65=)
c.*428T= (n.*428T=)
c.632T= (p.Ile211=)
c.401T= (p.Ile134=)
c.644T= (p.Ile215=)
9g.99137917T>ACA042694TGFBR1c.426T>A (p.Ile142=)
c.438T>A (p.Ile146=)
c.380-4619T>A (n.380-4619T>A)
c.195T>A (p.Ile65=)
c.*429T>A (n.*429T>A)
c.633T>A (p.Ile211=)
c.402T>A (p.Ile134=)
c.645T>A (p.Ile215=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.99137917T>CCA466434165TGFBR1c.426T>C (p.Ile142=)
c.438T>C (p.Ile146=)
c.380-4619T>C (n.380-4619T>C)
c.195T>C (p.Ile65=)
c.*429T>C (n.*429T>C)
c.633T>C (p.Ile211=)
c.402T>C (p.Ile134=)
c.645T>C (p.Ile215=)
9g.99137917T>GCA374229501TGFBR1c.426T>G (p.Ile142Met)
c.438T>G (p.Ile146Met)
c.380-4619T>G (n.380-4619T>G)
c.195T>G (p.Ile65Met)
c.*429T>G (n.*429T>G)
c.633T>G (p.Ile211Met)
c.402T>G (p.Ile134Met)
c.645T>G (p.Ile215Met)
9g.99137917T=CA1867255676TGFBR1c.426T= (p.Ile142=)
c.438T= (p.Ile146=)
c.380-4619T= (n.380-4619T=)
c.195T= (p.Ile65=)
c.*429T= (n.*429T=)
c.633T= (p.Ile211=)
c.402T= (p.Ile134=)
c.645T= (p.Ile215=)
9g.99137917_99137919dupCA658797254TGFBR1c.426_428dup (p.Gly143_Lys144insGly)
c.438_440dup (p.Gly147_Lys148insGly)
c.380-4619_380-4617dup (n.380-4619_380-4617dup)
c.195_197dup (p.Gly66_Lys67insGly)
c.*429_*431dup (n.*429_*431dup)
c.633_635dup (p.Gly212_Lys213insGly)
c.402_404dup (p.Gly135_Lys136insGly)
c.645_647dup (p.Gly216_Lys217insGly)
 ClinVar dbSNP
9g.99137918G>ACA374229510TGFBR1c.427G>A (p.Gly143Ser)
c.439G>A (p.Gly147Ser)
c.380-4618G>A (n.380-4618G>A)
c.196G>A (p.Gly66Ser)
c.*430G>A (n.*430G>A)
c.634G>A (p.Gly212Ser)
c.403G>A (p.Gly135Ser)
c.646G>A (p.Gly216Ser)
 ClinVar dbSNP
9g.99137918G>CCA374229509TGFBR1c.427G>C (p.Gly143Arg)
c.439G>C (p.Gly147Arg)
c.380-4618G>C (n.380-4618G>C)
c.196G>C (p.Gly66Arg)
c.*430G>C (n.*430G>C)
c.634G>C (p.Gly212Arg)
c.403G>C (p.Gly135Arg)
c.646G>C (p.Gly216Arg)
 dbSNP
9g.99137918G>TCA374229503TGFBR1c.427G>T (p.Gly143Cys)
c.439G>T (p.Gly147Cys)
c.380-4618G>T (n.380-4618G>T)
c.196G>T (p.Gly66Cys)
c.*430G>T (n.*430G>T)
c.634G>T (p.Gly212Cys)
c.403G>T (p.Gly135Cys)
c.646G>T (p.Gly216Cys)
 dbSNP
9g.99137919G>ACA374229512TGFBR1c.428G>A (p.Gly143Asp)
c.440G>A (p.Gly147Asp)
c.380-4617G>A (n.380-4617G>A)
c.197G>A (p.Gly66Asp)
c.*431G>A (n.*431G>A)
c.635G>A (p.Gly212Asp)
c.404G>A (p.Gly135Asp)
c.647G>A (p.Gly216Asp)
 dbSNP
9g.99137919G>CCA374229514TGFBR1c.428G>C (p.Gly143Ala)
c.440G>C (p.Gly147Ala)
c.380-4617G>C (n.380-4617G>C)
c.197G>C (p.Gly66Ala)
c.*431G>C (n.*431G>C)
c.635G>C (p.Gly212Ala)
c.404G>C (p.Gly135Ala)
c.647G>C (p.Gly216Ala)
 dbSNP
9g.99137919G>TCA374229516TGFBR1c.428G>T (p.Gly143Val)
c.440G>T (p.Gly147Val)
c.380-4617G>T (n.380-4617G>T)
c.197G>T (p.Gly66Val)
c.*431G>T (n.*431G>T)
c.635G>T (p.Gly212Val)
c.404G>T (p.Gly135Val)
c.647G>T (p.Gly216Val)
 ClinVar dbSNP
9g.99137920C>ACA466434166TGFBR1c.429C>A (p.Gly143=)
c.441C>A (p.Gly147=)
c.380-4616C>A (n.380-4616C>A)
c.198C>A (p.Gly66=)
c.*432C>A (n.*432C>A)
c.636C>A (p.Gly212=)
c.405C>A (p.Gly135=)
c.648C>A (p.Gly216=)
9g.99137920C=CA1867255684TGFBR1c.429C= (p.Gly143=)
c.441C= (p.Gly147=)
c.380-4616C= (n.380-4616C=)
c.198C= (p.Gly66=)
c.*432C= (n.*432C=)
c.636C= (p.Gly212=)
c.405C= (p.Gly135=)
c.648C= (p.Gly216=)
9g.99137920C>GCA466434167TGFBR1c.429C>G (p.Gly143=)
c.441C>G (p.Gly147=)
c.380-4616C>G (n.380-4616C>G)
c.198C>G (p.Gly66=)
c.*432C>G (n.*432C>G)
c.636C>G (p.Gly212=)
c.405C>G (p.Gly135=)
c.648C>G (p.Gly216=)
9g.99137920C>TCA466434168TGFBR1c.429C>T (p.Gly143=)
c.441C>T (p.Gly147=)
c.380-4616C>T (n.380-4616C>T)
c.198C>T (p.Gly66=)
c.*432C>T (n.*432C>T)
c.636C>T (p.Gly212=)
c.405C>T (p.Gly135=)
c.648C>T (p.Gly216=)
 dbSNP
9g.99137921A>CCA374229517TGFBR1c.430A>C (p.Lys144Gln)
c.442A>C (p.Lys148Gln)
c.380-4615A>C (n.380-4615A>C)
c.199A>C (p.Lys67Gln)
c.*433A>C (n.*433A>C)
c.637A>C (p.Lys213Gln)
c.406A>C (p.Lys136Gln)
c.649A>C (p.Lys217Gln)
9g.99137921A>GCA374229519TGFBR1c.430A>G (p.Lys144Glu)
c.442A>G (p.Lys148Glu)
c.380-4615A>G (n.380-4615A>G)
c.199A>G (p.Lys67Glu)
c.*433A>G (n.*433A>G)
c.637A>G (p.Lys213Glu)
c.406A>G (p.Lys136Glu)
c.649A>G (p.Lys217Glu)
9g.99137921A>TCA374229520TGFBR1c.430A>T (p.Lys144Ter)
c.442A>T (p.Lys148Ter)
c.380-4615A>T (n.380-4615A>T)
c.199A>T (p.Lys67Ter)
c.*433A>T (n.*433A>T)
c.637A>T (p.Lys213Ter)
c.406A>T (p.Lys136Ter)
c.649A>T (p.Lys217Ter)
 dbSNP
9g.99137922A>CCA374229522TGFBR1c.431A>C (p.Lys144Thr)
c.443A>C (p.Lys148Thr)
c.380-4614A>C (n.380-4614A>C)
c.200A>C (p.Lys67Thr)
c.*434A>C (n.*434A>C)
c.638A>C (p.Lys213Thr)
c.407A>C (p.Lys136Thr)
c.650A>C (p.Lys217Thr)
9g.99137922A>GCA374229524TGFBR1c.431A>G (p.Lys144Arg)
c.443A>G (p.Lys148Arg)
c.380-4614A>G (n.380-4614A>G)
c.200A>G (p.Lys67Arg)
c.*434A>G (n.*434A>G)
c.638A>G (p.Lys213Arg)
c.407A>G (p.Lys136Arg)
c.650A>G (p.Lys217Arg)
 dbSNP
9g.99137922A>TCA374229525TGFBR1c.431A>T (p.Lys144Ile)
c.443A>T (p.Lys148Ile)
c.380-4614A>T (n.380-4614A>T)
c.200A>T (p.Lys67Ile)
c.*434A>T (n.*434A>T)
c.638A>T (p.Lys213Ile)
c.407A>T (p.Lys136Ile)
c.650A>T (p.Lys217Ile)
 ClinVar dbSNP
9g.99137923A>CCA374229527TGFBR1c.432A>C (p.Lys144Asn)
c.444A>C (p.Lys148Asn)
c.380-4613A>C (n.380-4613A>C)
c.201A>C (p.Lys67Asn)
c.*435A>C (n.*435A>C)
c.639A>C (p.Lys213Asn)
c.408A>C (p.Lys136Asn)
c.651A>C (p.Lys217Asn)
9g.99137923A>GCA466434169TGFBR1c.432A>G (p.Lys144=)
c.444A>G (p.Lys148=)
c.380-4613A>G (n.380-4613A>G)
c.201A>G (p.Lys67=)
c.*435A>G (n.*435A>G)
c.639A>G (p.Lys213=)
c.408A>G (p.Lys136=)
c.651A>G (p.Lys217=)
9g.99137923A>TCA374229528TGFBR1c.432A>T (p.Lys144Asn)
c.444A>T (p.Lys148Asn)
c.380-4613A>T (n.380-4613A>T)
c.201A>T (p.Lys67Asn)
c.*435A>T (n.*435A>T)
c.639A>T (p.Lys213Asn)
c.408A>T (p.Lys136Asn)
c.651A>T (p.Lys217Asn)
9g.99137924G>ACA374229530TGFBR1c.433G>A (p.Gly145Ser)
c.445G>A (p.Gly149Ser)
c.380-4612G>A (n.380-4612G>A)
c.202G>A (p.Gly68Ser)
c.*436G>A (n.*436G>A)
c.640G>A (p.Gly214Ser)
c.409G>A (p.Gly137Ser)
c.652G>A (p.Gly218Ser)
 ClinVar dbSNP
9g.99137924G>CCA374229531TGFBR1c.433G>C (p.Gly145Arg)
c.445G>C (p.Gly149Arg)
c.380-4612G>C (n.380-4612G>C)
c.202G>C (p.Gly68Arg)
c.*436G>C (n.*436G>C)
c.640G>C (p.Gly214Arg)
c.409G>C (p.Gly137Arg)
c.652G>C (p.Gly218Arg)
 ClinVar dbSNP
9g.99137924G=CA1867255690TGFBR1c.433G= (p.Gly145=)
c.445G= (p.Gly149=)
c.380-4612G= (n.380-4612G=)
c.202G= (p.Gly68=)
c.*436G= (n.*436G=)
c.640G= (p.Gly214=)
c.409G= (p.Gly137=)
c.652G= (p.Gly218=)
9g.99137924G>TCA008841TGFBR1c.433G>T (p.Gly145Cys)
c.445G>T (p.Gly149Cys)
c.380-4612G>T (n.380-4612G>T)
c.202G>T (p.Gly68Cys)
c.*436G>T (n.*436G>T)
c.640G>T (p.Gly214Cys)
c.409G>T (p.Gly137Cys)
c.652G>T (p.Gly218Cys)
 ClinVar dbSNP
9g.99137925G>ACA374229533TGFBR1c.434G>A (p.Gly145Asp)
c.446G>A (p.Gly149Asp)
c.380-4611G>A (n.380-4611G>A)
c.203G>A (p.Gly68Asp)
c.*437G>A (n.*437G>A)
c.641G>A (p.Gly214Asp)
c.410G>A (p.Gly137Asp)
c.653G>A (p.Gly218Asp)
 ClinVar dbSNP
9g.99137925G>CCA374229534TGFBR1c.434G>C (p.Gly145Ala)
c.446G>C (p.Gly149Ala)
c.380-4611G>C (n.380-4611G>C)
c.203G>C (p.Gly68Ala)
c.*437G>C (n.*437G>C)
c.641G>C (p.Gly214Ala)
c.410G>C (p.Gly137Ala)
c.653G>C (p.Gly218Ala)
 dbSNP
9g.99137925G>TCA374229536TGFBR1c.434G>T (p.Gly145Val)
c.446G>T (p.Gly149Val)
c.380-4611G>T (n.380-4611G>T)
c.203G>T (p.Gly68Val)
c.*437G>T (n.*437G>T)
c.641G>T (p.Gly214Val)
c.410G>T (p.Gly137Val)
c.653G>T (p.Gly218Val)
 dbSNP COSMIC
9g.99137926T>ACA466434170TGFBR1c.435T>A (p.Gly145=)
c.447T>A (p.Gly149=)
c.380-4610T>A (n.380-4610T>A)
c.204T>A (p.Gly68=)
c.*438T>A (n.*438T>A)
c.642T>A (p.Gly214=)
c.411T>A (p.Gly137=)
c.654T>A (p.Gly218=)
 dbSNP
9g.99137926T>CCA466434171TGFBR1c.435T>C (p.Gly145=)
c.447T>C (p.Gly149=)
c.380-4610T>C (n.380-4610T>C)
c.204T>C (p.Gly68=)
c.*438T>C (n.*438T>C)
c.642T>C (p.Gly214=)
c.411T>C (p.Gly137=)
c.654T>C (p.Gly218=)
9g.99137926T>GCA466434172TGFBR1c.435T>G (p.Gly145=)
c.447T>G (p.Gly149=)
c.380-4610T>G (n.380-4610T>G)
c.204T>G (p.Gly68=)
c.*438T>G (n.*438T>G)
c.642T>G (p.Gly214=)
c.411T>G (p.Gly137=)
c.654T>G (p.Gly218=)
 dbSNP
9g.99137927C>ACA466434173TGFBR1c.436C>A (p.Arg146=)
c.448C>A (p.Arg150=)
c.380-4609C>A (n.380-4609C>A)
c.205C>A (p.Arg69=)
c.*439C>A (n.*439C>A)
c.643C>A (p.Arg215=)
c.412C>A (p.Arg138=)
c.655C>A (p.Arg219=)
 dbSNP
9g.99137927C>GCA374229537TGFBR1c.436C>G (p.Arg146Gly)
c.448C>G (p.Arg150Gly)
c.380-4609C>G (n.380-4609C>G)
c.205C>G (p.Arg69Gly)
c.*439C>G (n.*439C>G)
c.643C>G (p.Arg215Gly)
c.412C>G (p.Arg138Gly)
c.655C>G (p.Arg219Gly)
 dbSNP COSMIC
9g.99137927C>TCA374229539TGFBR1c.436C>T (p.Arg146Ter)
c.448C>T (p.Arg150Ter)
c.380-4609C>T (n.380-4609C>T)
c.205C>T (p.Arg69Ter)
c.*439C>T (n.*439C>T)
c.643C>T (p.Arg215Ter)
c.412C>T (p.Arg138Ter)
c.655C>T (p.Arg219Ter)
 ClinVar dbSNP COSMIC
9g.99137928G>ACA374229541TGFBR1c.437G>A (p.Arg146Gln)
c.449G>A (p.Arg150Gln)
c.380-4608G>A (n.380-4608G>A)
c.206G>A (p.Arg69Gln)
c.*440G>A (n.*440G>A)
c.644G>A (p.Arg215Gln)
c.413G>A (p.Arg138Gln)
c.656G>A (p.Arg219Gln)
 ClinVar dbSNP
9g.99137928G>CCA374229542TGFBR1c.437G>C (p.Arg146Pro)
c.449G>C (p.Arg150Pro)
c.380-4608G>C (n.380-4608G>C)
c.206G>C (p.Arg69Pro)
c.*440G>C (n.*440G>C)
c.644G>C (p.Arg215Pro)
c.413G>C (p.Arg138Pro)
c.656G>C (p.Arg219Pro)
 dbSNP COSMIC
9g.99137928G>TCA374229544TGFBR1c.437G>T (p.Arg146Leu)
c.449G>T (p.Arg150Leu)
c.380-4608G>T (n.380-4608G>T)
c.206G>T (p.Arg69Leu)
c.*440G>T (n.*440G>T)
c.644G>T (p.Arg215Leu)
c.413G>T (p.Arg138Leu)
c.656G>T (p.Arg219Leu)
9g.99137929A>CCA466434174TGFBR1c.438A>C (p.Arg146=)
c.450A>C (p.Arg150=)
c.380-4607A>C (n.380-4607A>C)
c.207A>C (p.Arg69=)
c.*441A>C (n.*441A>C)
c.645A>C (p.Arg215=)
c.414A>C (p.Arg138=)
c.657A>C (p.Arg219=)
9g.99137929A>GCA466434175TGFBR1c.438A>G (p.Arg146=)
c.450A>G (p.Arg150=)
c.380-4607A>G (n.380-4607A>G)
c.207A>G (p.Arg69=)
c.*441A>G (n.*441A>G)
c.645A>G (p.Arg215=)
c.414A>G (p.Arg138=)
c.657A>G (p.Arg219=)
9g.99137929A>TCA466434176TGFBR1c.438A>T (p.Arg146=)
c.450A>T (p.Arg150=)
c.380-4607A>T (n.380-4607A>T)
c.207A>T (p.Arg69=)
c.*441A>T (n.*441A>T)
c.645A>T (p.Arg215=)
c.414A>T (p.Arg138=)
c.657A>T (p.Arg219=)
9g.99137930T>ACA374229545TGFBR1c.439T>A (p.Phe147Ile)
c.451T>A (p.Phe151Ile)
c.380-4606T>A (n.380-4606T>A)
c.208T>A (p.Phe70Ile)
c.*442T>A (n.*442T>A)
c.646T>A (p.Phe216Ile)
c.415T>A (p.Phe139Ile)
c.658T>A (p.Phe220Ile)
 dbSNP
9g.99137930T>CCA374229546TGFBR1c.439T>C (p.Phe147Leu)
c.451T>C (p.Phe151Leu)
c.380-4606T>C (n.380-4606T>C)
c.208T>C (p.Phe70Leu)
c.*442T>C (n.*442T>C)
c.646T>C (p.Phe216Leu)
c.415T>C (p.Phe139Leu)
c.658T>C (p.Phe220Leu)
9g.99137930T>GCA374229548TGFBR1c.439T>G (p.Phe147Val)
c.451T>G (p.Phe151Val)
c.380-4606T>G (n.380-4606T>G)
c.208T>G (p.Phe70Val)
c.*442T>G (n.*442T>G)
c.646T>G (p.Phe216Val)
c.415T>G (p.Phe139Val)
c.658T>G (p.Phe220Val)
 dbSNP
9g.99137931T>ACA374229552TGFBR1c.440T>A (p.Phe147Tyr)
c.452T>A (p.Phe151Tyr)
c.380-4605T>A (n.380-4605T>A)
c.209T>A (p.Phe70Tyr)
c.*443T>A (n.*443T>A)
c.647T>A (p.Phe216Tyr)
c.416T>A (p.Phe139Tyr)
c.659T>A (p.Phe220Tyr)
 dbSNP
9g.99137931T>CCA374229553TGFBR1c.440T>C (p.Phe147Ser)
c.452T>C (p.Phe151Ser)
c.380-4605T>C (n.380-4605T>C)
c.209T>C (p.Phe70Ser)
c.*443T>C (n.*443T>C)
c.647T>C (p.Phe216Ser)
c.416T>C (p.Phe139Ser)
c.659T>C (p.Phe220Ser)
9g.99137931T>GCA374229550TGFBR1c.440T>G (p.Phe147Cys)
c.452T>G (p.Phe151Cys)
c.380-4605T>G (n.380-4605T>G)
c.209T>G (p.Phe70Cys)
c.*443T>G (n.*443T>G)
c.647T>G (p.Phe216Cys)
c.416T>G (p.Phe139Cys)
c.659T>G (p.Phe220Cys)
 dbSNP
9g.99137932T>ACA374229554TGFBR1c.441T>A (p.Phe147Leu)
c.453T>A (p.Phe151Leu)
c.380-4604T>A (n.380-4604T>A)
c.210T>A (p.Phe70Leu)
c.*444T>A (n.*444T>A)
c.648T>A (p.Phe216Leu)
c.417T>A (p.Phe139Leu)
c.660T>A (p.Phe220Leu)
9g.99137932T>CCA466434177TGFBR1c.441T>C (p.Phe147=)
c.453T>C (p.Phe151=)
c.380-4604T>C (n.380-4604T>C)
c.210T>C (p.Phe70=)
c.*444T>C (n.*444T>C)
c.648T>C (p.Phe216=)
c.417T>C (p.Phe139=)
c.660T>C (p.Phe220=)
 gnomAD v4
9g.99137932T>GCA321169TGFBR1c.441T>G (p.Phe147Leu)
c.453T>G (p.Phe151Leu)
c.380-4604T>G (n.380-4604T>G)
c.210T>G (p.Phe70Leu)
c.*444T>G (n.*444T>G)
c.648T>G (p.Phe216Leu)
c.417T>G (p.Phe139Leu)
c.660T>G (p.Phe220Leu)
 ClinVar dbSNP
9g.99137932T=CA1867255700TGFBR1c.441T= (p.Phe147=)
c.453T= (p.Phe151=)
c.380-4604T= (n.380-4604T=)
c.210T= (p.Phe70=)
c.*444T= (n.*444T=)
c.648T= (p.Phe216=)
c.417T= (p.Phe139=)
c.660T= (p.Phe220=)
9g.99137933G>ACA374229556TGFBR1c.442G>A (p.Gly148Arg)
c.454G>A (p.Gly152Arg)
c.380-4603G>A (n.380-4603G>A)
c.211G>A (p.Gly71Arg)
c.*445G>A (n.*445G>A)
c.649G>A (p.Gly217Arg)
c.418G>A (p.Gly140Arg)
c.661G>A (p.Gly221Arg)
 dbSNP
9g.99137933G>CCA374229558TGFBR1c.442G>C (p.Gly148Arg)
c.454G>C (p.Gly152Arg)
c.380-4603G>C (n.380-4603G>C)
c.211G>C (p.Gly71Arg)
c.*445G>C (n.*445G>C)
c.649G>C (p.Gly217Arg)
c.418G>C (p.Gly140Arg)
c.661G>C (p.Gly221Arg)
 dbSNP
9g.99137933G>TCA374229560TGFBR1c.442G>T (p.Gly148Ter)
c.454G>T (p.Gly152Ter)
c.380-4603G>T (n.380-4603G>T)
c.211G>T (p.Gly71Ter)
c.*445G>T (n.*445G>T)
c.649G>T (p.Gly217Ter)
c.418G>T (p.Gly140Ter)
c.661G>T (p.Gly221Ter)
 dbSNP
9g.99137934G>ACA374229564TGFBR1c.443G>A (p.Gly148Glu)
c.455G>A (p.Gly152Glu)
c.380-4602G>A (n.380-4602G>A)
c.212G>A (p.Gly71Glu)
c.*446G>A (n.*446G>A)
c.650G>A (p.Gly217Glu)
c.419G>A (p.Gly140Glu)
c.662G>A (p.Gly221Glu)
 ClinVar dbSNP
9g.99137934G>CCA374229561TGFBR1c.443G>C (p.Gly148Ala)
c.455G>C (p.Gly152Ala)
c.380-4602G>C (n.380-4602G>C)
c.212G>C (p.Gly71Ala)
c.*446G>C (n.*446G>C)
c.650G>C (p.Gly217Ala)
c.419G>C (p.Gly140Ala)
c.662G>C (p.Gly221Ala)
 dbSNP COSMIC
9g.99137934G>TCA374229562TGFBR1c.443G>T (p.Gly148Val)
c.455G>T (p.Gly152Val)
c.380-4602G>T (n.380-4602G>T)
c.212G>T (p.Gly71Val)
c.*446G>T (n.*446G>T)
c.650G>T (p.Gly217Val)
c.419G>T (p.Gly140Val)
c.662G>T (p.Gly221Val)
 ClinVar dbSNP
9g.99137935A=CA1867255708TGFBR1c.444A= (p.Gly148=)
c.456A= (p.Gly152=)
c.380-4601A= (n.380-4601A=)
c.213A= (p.Gly71=)
c.*447A= (n.*447A=)
c.651A= (p.Gly217=)
c.420A= (p.Gly140=)
c.663A= (p.Gly221=)
9g.99137935A>CCA466434178TGFBR1c.444A>C (p.Gly148=)
c.456A>C (p.Gly152=)
c.380-4601A>C (n.380-4601A>C)
c.213A>C (p.Gly71=)
c.*447A>C (n.*447A>C)
c.651A>C (p.Gly217=)
c.420A>C (p.Gly140=)
c.663A>C (p.Gly221=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.99137935A>GCA466434179TGFBR1c.444A>G (p.Gly148=)
c.456A>G (p.Gly152=)
c.380-4601A>G (n.380-4601A>G)
c.213A>G (p.Gly71=)
c.*447A>G (n.*447A>G)
c.651A>G (p.Gly217=)
c.420A>G (p.Gly140=)
c.663A>G (p.Gly221=)
 ClinVar dbSNP
9g.99137935A>TCA466434180TGFBR1c.444A>T (p.Gly148=)
c.456A>T (p.Gly152=)
c.380-4601A>T (n.380-4601A>T)
c.213A>T (p.Gly71=)
c.*447A>T (n.*447A>T)
c.651A>T (p.Gly217=)
c.420A>T (p.Gly140=)
c.663A>T (p.Gly221=)
 dbSNP gnomAD v3 gnomAD v4
9g.99137936G>ACA374229566TGFBR1c.445G>A (p.Glu149Lys)
c.457G>A (p.Glu153Lys)
c.380-4600G>A (n.380-4600G>A)
c.214G>A (p.Glu72Lys)
c.*448G>A (n.*448G>A)
c.652G>A (p.Glu218Lys)
c.421G>A (p.Glu141Lys)
c.664G>A (p.Glu222Lys)
 dbSNP
9g.99137936G>CCA374229567TGFBR1c.445G>C (p.Glu149Gln)
c.457G>C (p.Glu153Gln)
c.380-4600G>C (n.380-4600G>C)
c.214G>C (p.Glu72Gln)
c.*448G>C (n.*448G>C)
c.652G>C (p.Glu218Gln)
c.421G>C (p.Glu141Gln)
c.664G>C (p.Glu222Gln)
 dbSNP
9g.99137936G>TCA374229568TGFBR1c.445G>T (p.Glu149Ter)
c.457G>T (p.Glu153Ter)
c.380-4600G>T (n.380-4600G>T)
c.214G>T (p.Glu72Ter)
c.*448G>T (n.*448G>T)
c.652G>T (p.Glu218Ter)
c.421G>T (p.Glu141Ter)
c.664G>T (p.Glu222Ter)
 dbSNP
9g.99137937A>CCA374229570TGFBR1c.446A>C (p.Glu149Ala)
c.458A>C (p.Glu153Ala)
c.380-4599A>C (n.380-4599A>C)
c.215A>C (p.Glu72Ala)
c.*449A>C (n.*449A>C)
c.653A>C (p.Glu218Ala)
c.422A>C (p.Glu141Ala)
c.665A>C (p.Glu222Ala)
9g.99137937A>GCA374229571TGFBR1c.446A>G (p.Glu149Gly)
c.458A>G (p.Glu153Gly)
c.380-4599A>G (n.380-4599A>G)
c.215A>G (p.Glu72Gly)
c.*449A>G (n.*449A>G)
c.653A>G (p.Glu218Gly)
c.422A>G (p.Glu141Gly)
c.665A>G (p.Glu222Gly)
9g.99137937A>TCA374229572TGFBR1c.446A>T (p.Glu149Val)
c.458A>T (p.Glu153Val)
c.380-4599A>T (n.380-4599A>T)
c.215A>T (p.Glu72Val)
c.*449A>T (n.*449A>T)
c.653A>T (p.Glu218Val)
c.422A>T (p.Glu141Val)
c.665A>T (p.Glu222Val)
 dbSNP
9g.99137938A>CCA374229575TGFBR1c.447A>C (p.Glu149Asp)
c.459A>C (p.Glu153Asp)
c.380-4598A>C (n.380-4598A>C)
c.216A>C (p.Glu72Asp)
c.*450A>C (n.*450A>C)
c.654A>C (p.Glu218Asp)
c.423A>C (p.Glu141Asp)
c.666A>C (p.Glu222Asp)
 dbSNP gnomAD v3 gnomAD v4
9g.99137938A>GCA466434181TGFBR1c.447A>G (p.Glu149=)
c.459A>G (p.Glu153=)
c.380-4598A>G (n.380-4598A>G)
c.216A>G (p.Glu72=)
c.*450A>G (n.*450A>G)
c.654A>G (p.Glu218=)
c.423A>G (p.Glu141=)
c.666A>G (p.Glu222=)
 ClinVar gnomAD v4
9g.99137938A>TCA374229574TGFBR1c.447A>T (p.Glu149Asp)
c.459A>T (p.Glu153Asp)
c.380-4598A>T (n.380-4598A>T)
c.216A>T (p.Glu72Asp)
c.*450A>T (n.*450A>T)
c.654A>T (p.Glu218Asp)
c.423A>T (p.Glu141Asp)
c.666A>T (p.Glu222Asp)
 dbSNP
9g.99137939G>ACA374229577TGFBR1c.448G>A (p.Val150Ile)
c.460G>A (p.Val154Ile)
c.380-4597G>A (n.380-4597G>A)
c.217G>A (p.Val73Ile)
c.*451G>A (n.*451G>A)
c.655G>A (p.Val219Ile)
c.424G>A (p.Val142Ile)
c.667G>A (p.Val223Ile)
 ClinVar
9g.99137939G>CCA374229580TGFBR1c.448G>C (p.Val150Leu)
c.460G>C (p.Val154Leu)
c.380-4597G>C (n.380-4597G>C)
c.217G>C (p.Val73Leu)
c.*451G>C (n.*451G>C)
c.655G>C (p.Val219Leu)
c.424G>C (p.Val142Leu)
c.667G>C (p.Val223Leu)
 dbSNP
9g.99137939G=CA1867255715TGFBR1c.448G= (p.Val150=)
c.460G= (p.Val154=)
c.380-4597G= (n.380-4597G=)
c.217G= (p.Val73=)
c.*451G= (n.*451G=)
c.655G= (p.Val219=)
c.424G= (p.Val142=)
c.667G= (p.Val223=)
9g.99137939G>TCA322797TGFBR1c.448G>T (p.Val150Phe)
c.460G>T (p.Val154Phe)
c.380-4597G>T (n.380-4597G>T)
c.217G>T (p.Val73Phe)
c.*451G>T (n.*451G>T)
c.655G>T (p.Val219Phe)
c.424G>T (p.Val142Phe)
c.667G>T (p.Val223Phe)
 ClinVar dbSNP COSMIC
9g.99137940T>ACA374229581TGFBR1c.449T>A (p.Val150Asp)
c.461T>A (p.Val154Asp)
c.380-4596T>A (n.380-4596T>A)
c.218T>A (p.Val73Asp)
c.*452T>A (n.*452T>A)
c.656T>A (p.Val219Asp)
c.425T>A (p.Val142Asp)
c.668T>A (p.Val223Asp)
 dbSNP
9g.99137940T>CCA374229583TGFBR1c.449T>C (p.Val150Ala)
c.461T>C (p.Val154Ala)
c.380-4596T>C (n.380-4596T>C)
c.218T>C (p.Val73Ala)
c.*452T>C (n.*452T>C)
c.656T>C (p.Val219Ala)
c.425T>C (p.Val142Ala)
c.668T>C (p.Val223Ala)
9g.99137940T>GCA374229584TGFBR1c.449T>G (p.Val150Gly)
c.461T>G (p.Val154Gly)
c.380-4596T>G (n.380-4596T>G)
c.218T>G (p.Val73Gly)
c.*452T>G (n.*452T>G)
c.656T>G (p.Val219Gly)
c.425T>G (p.Val142Gly)
c.668T>G (p.Val223Gly)
 ClinVar dbSNP
9g.99137941T>ACA466434183TGFBR1c.450T>A (p.Val150=)
c.462T>A (p.Val154=)
c.380-4595T>A (n.380-4595T>A)
c.219T>A (p.Val73=)
c.*453T>A (n.*453T>A)
c.657T>A (p.Val219=)
c.426T>A (p.Val142=)
c.669T>A (p.Val223=)
 dbSNP
9g.99137941T>CCA466434184TGFBR1c.450T>C (p.Val150=)
c.462T>C (p.Val154=)
c.380-4595T>C (n.380-4595T>C)
c.219T>C (p.Val73=)
c.*453T>C (n.*453T>C)
c.657T>C (p.Val219=)
c.426T>C (p.Val142=)
c.669T>C (p.Val223=)
 gnomAD v4
9g.99137941T>GCA466434182TGFBR1c.450T>G (p.Val150=)
c.462T>G (p.Val154=)
c.380-4595T>G (n.380-4595T>G)
c.219T>G (p.Val73=)
c.*453T>G (n.*453T>G)
c.657T>G (p.Val219=)
c.426T>G (p.Val142=)
c.669T>G (p.Val223=)
 dbSNP
9g.99137942T>ACA374229586TGFBR1c.451T>A (p.Trp151Arg)
c.463T>A (p.Trp155Arg)
c.380-4594T>A (n.380-4594T>A)
c.220T>A (p.Trp74Arg)
c.*454T>A (n.*454T>A)
c.658T>A (p.Trp220Arg)
c.427T>A (p.Trp143Arg)
c.670T>A (p.Trp224Arg)
9g.99137942T>CCA374229587TGFBR1c.451T>C (p.Trp151Arg)
c.463T>C (p.Trp155Arg)
c.380-4594T>C (n.380-4594T>C)
c.220T>C (p.Trp74Arg)
c.*454T>C (n.*454T>C)
c.658T>C (p.Trp220Arg)
c.427T>C (p.Trp143Arg)
c.670T>C (p.Trp224Arg)
9g.99137942T>GCA374229588TGFBR1c.451T>G (p.Trp151Gly)
c.463T>G (p.Trp155Gly)
c.380-4594T>G (n.380-4594T>G)
c.220T>G (p.Trp74Gly)
c.*454T>G (n.*454T>G)
c.658T>G (p.Trp220Gly)
c.427T>G (p.Trp143Gly)
c.670T>G (p.Trp224Gly)
 ClinVar
9g.99137943G>ACA374229590TGFBR1c.452G>A (p.Trp151Ter)
c.464G>A (p.Trp155Ter)
c.380-4593G>A (n.380-4593G>A)
c.221G>A (p.Trp74Ter)
c.*455G>A (n.*455G>A)
c.659G>A (p.Trp220Ter)
c.428G>A (p.Trp143Ter)
c.671G>A (p.Trp224Ter)
9g.99137943G>CCA374229591TGFBR1c.452G>C (p.Trp151Ser)
c.464G>C (p.Trp155Ser)
c.380-4593G>C (n.380-4593G>C)
c.221G>C (p.Trp74Ser)
c.*455G>C (n.*455G>C)
c.659G>C (p.Trp220Ser)
c.428G>C (p.Trp143Ser)
c.671G>C (p.Trp224Ser)
9g.99137943G>TCA374229593TGFBR1c.452G>T (p.Trp151Leu)
c.464G>T (p.Trp155Leu)
c.380-4593G>T (n.380-4593G>T)
c.221G>T (p.Trp74Leu)
c.*455G>T (n.*455G>T)
c.659G>T (p.Trp220Leu)
c.428G>T (p.Trp143Leu)
c.671G>T (p.Trp224Leu)
9g.99137944G>ACA374229595TGFBR1c.453G>A (p.Trp151Ter)
c.465G>A (p.Trp155Ter)
c.380-4592G>A (n.380-4592G>A)
c.222G>A (p.Trp74Ter)
c.*456G>A (n.*456G>A)
c.660G>A (p.Trp220Ter)
c.429G>A (p.Trp143Ter)
c.672G>A (p.Trp224Ter)
 dbSNP
9g.99137944G>CCA374229596TGFBR1c.453G>C (p.Trp151Cys)
c.465G>C (p.Trp155Cys)
c.380-4592G>C (n.380-4592G>C)
c.222G>C (p.Trp74Cys)
c.*456G>C (n.*456G>C)
c.660G>C (p.Trp220Cys)
c.429G>C (p.Trp143Cys)
c.672G>C (p.Trp224Cys)
 dbSNP
9g.99137944G=CA1867255718TGFBR1c.453G= (p.Trp151=)
c.465G= (p.Trp155=)
c.380-4592G= (n.380-4592G=)
c.222G= (p.Trp74=)
c.*456G= (n.*456G=)
c.660G= (p.Trp220=)
c.429G= (p.Trp143=)
c.672G= (p.Trp224=)
9g.99137944G>TCA196889015TGFBR1c.453G>T (p.Trp151Cys)
c.465G>T (p.Trp155Cys)
c.380-4592G>T (n.380-4592G>T)
c.222G>T (p.Trp74Cys)
c.*456G>T (n.*456G>T)
c.660G>T (p.Trp220Cys)
c.429G>T (p.Trp143Cys)
c.672G>T (p.Trp224Cys)
 ClinVar dbSNP
9g.99137945A>CCA466434185TGFBR1c.454A>C (p.Arg152=)
c.466A>C (p.Arg156=)
c.380-4591A>C (n.380-4591A>C)
c.223A>C (p.Arg75=)
c.*457A>C (n.*457A>C)
c.661A>C (p.Arg221=)
c.430A>C (p.Arg144=)
c.673A>C (p.Arg225=)
9g.99137945A>GCA374229600TGFBR1c.454A>G (p.Arg152Gly)
c.466A>G (p.Arg156Gly)
c.380-4591A>G (n.380-4591A>G)
c.223A>G (p.Arg75Gly)
c.*457A>G (n.*457A>G)
c.661A>G (p.Arg221Gly)
c.430A>G (p.Arg144Gly)
c.673A>G (p.Arg225Gly)
9g.99137945A>TCA374229598TGFBR1c.454A>T (p.Arg152Ter)
c.466A>T (p.Arg156Ter)
c.380-4591A>T (n.380-4591A>T)
c.223A>T (p.Arg75Ter)
c.*457A>T (n.*457A>T)
c.661A>T (p.Arg221Ter)
c.430A>T (p.Arg144Ter)
c.673A>T (p.Arg225Ter)
 dbSNP
9g.99137946G>ACA374229602TGFBR1c.455G>A (p.Arg152Lys)
c.467G>A (p.Arg156Lys)
c.380-4590G>A (n.380-4590G>A)
c.224G>A (p.Arg75Lys)
c.*458G>A (n.*458G>A)
c.662G>A (p.Arg221Lys)
c.431G>A (p.Arg144Lys)
c.674G>A (p.Arg225Lys)
 dbSNP
9g.99137946G>CCA374229603TGFBR1c.455G>C (p.Arg152Thr)
c.467G>C (p.Arg156Thr)
c.380-4590G>C (n.380-4590G>C)
c.224G>C (p.Arg75Thr)
c.*458G>C (n.*458G>C)
c.662G>C (p.Arg221Thr)
c.431G>C (p.Arg144Thr)
c.674G>C (p.Arg225Thr)
 dbSNP
9g.99137946G>TCA374229604TGFBR1c.455G>T (p.Arg152Ile)
c.467G>T (p.Arg156Ile)
c.380-4590G>T (n.380-4590G>T)
c.224G>T (p.Arg75Ile)
c.*458G>T (n.*458G>T)
c.662G>T (p.Arg221Ile)
c.431G>T (p.Arg144Ile)
c.674G>T (p.Arg225Ile)
 dbSNP
9g.99137947A>CCA374229606TGFBR1c.456A>C (p.Arg152Ser)
c.468A>C (p.Arg156Ser)
c.380-4589A>C (n.380-4589A>C)
c.225A>C (p.Arg75Ser)
c.*459A>C (n.*459A>C)
c.663A>C (p.Arg221Ser)
c.432A>C (p.Arg144Ser)
c.675A>C (p.Arg225Ser)
9g.99137947A>GCA466434186TGFBR1c.456A>G (p.Arg152=)
c.468A>G (p.Arg156=)
c.380-4589A>G (n.380-4589A>G)
c.225A>G (p.Arg75=)
c.*459A>G (n.*459A>G)
c.663A>G (p.Arg221=)
c.432A>G (p.Arg144=)
c.675A>G (p.Arg225=)
 dbSNP
9g.99137947A>TCA374229608TGFBR1c.456A>T (p.Arg152Ser)
c.468A>T (p.Arg156Ser)
c.380-4589A>T (n.380-4589A>T)
c.225A>T (p.Arg75Ser)
c.*459A>T (n.*459A>T)
c.663A>T (p.Arg221Ser)
c.432A>T (p.Arg144Ser)
c.675A>T (p.Arg225Ser)
 dbSNP
9g.99137948G>ACA374229609TGFBR1c.457G>A (p.Gly153Arg)
c.469G>A (p.Gly157Arg)
c.380-4588G>A (n.380-4588G>A)
c.226G>A (p.Gly76Arg)
c.*460G>A (n.*460G>A)
c.664G>A (p.Gly222Arg)
c.433G>A (p.Gly145Arg)
c.676G>A (p.Gly226Arg)
 dbSNP gnomAD v2 gnomAD v4
9g.99137948G>CCA374229610TGFBR1c.457G>C (p.Gly153Arg)
c.469G>C (p.Gly157Arg)
c.380-4588G>C (n.380-4588G>C)
c.226G>C (p.Gly76Arg)
c.*460G>C (n.*460G>C)
c.664G>C (p.Gly222Arg)
c.433G>C (p.Gly145Arg)
c.676G>C (p.Gly226Arg)
 dbSNP
9g.99137948G=CA1867255722TGFBR1c.457G= (p.Gly153=)
c.469G= (p.Gly157=)
c.380-4588G= (n.380-4588G=)
c.226G= (p.Gly76=)
c.*460G= (n.*460G=)
c.664G= (p.Gly222=)
c.433G= (p.Gly145=)
c.676G= (p.Gly226=)
9g.99137948G>TCA374229612TGFBR1c.457G>T (p.Gly153Ter)
c.469G>T (p.Gly157Ter)
c.380-4588G>T (n.380-4588G>T)
c.226G>T (p.Gly76Ter)
c.*460G>T (n.*460G>T)
c.664G>T (p.Gly222Ter)
c.433G>T (p.Gly145Ter)
c.676G>T (p.Gly226Ter)
9g.99137949G>ACA374229614TGFBR1c.458G>A (p.Gly153Glu)
c.470G>A (p.Gly157Glu)
c.380-4587G>A (n.380-4587G>A)
c.227G>A (p.Gly76Glu)
c.*461G>A (n.*461G>A)
c.665G>A (p.Gly222Glu)
c.434G>A (p.Gly145Glu)
c.677G>A (p.Gly226Glu)
 ClinVar dbSNP
9g.99137949G>CCA374229616TGFBR1c.458G>C (p.Gly153Ala)
c.470G>C (p.Gly157Ala)
c.380-4587G>C (n.380-4587G>C)
c.227G>C (p.Gly76Ala)
c.*461G>C (n.*461G>C)
c.665G>C (p.Gly222Ala)
c.434G>C (p.Gly145Ala)
c.677G>C (p.Gly226Ala)
 dbSNP gnomAD v4
9g.99137949G>TCA374229617TGFBR1c.458G>T (p.Gly153Val)
c.470G>T (p.Gly157Val)
c.380-4587G>T (n.380-4587G>T)
c.227G>T (p.Gly76Val)
c.*461G>T (n.*461G>T)
c.665G>T (p.Gly222Val)
c.434G>T (p.Gly145Val)
c.677G>T (p.Gly226Val)
9g.99137950A=CA1867255726TGFBR1c.459A= (p.Gly153=)
c.471A= (p.Gly157=)
c.380-4586A= (n.380-4586A=)
c.228A= (p.Gly76=)
c.*462A= (n.*462A=)
c.666A= (p.Gly222=)
c.435A= (p.Gly145=)
c.678A= (p.Gly226=)
9g.99137950A>CCA466434187TGFBR1c.459A>C (p.Gly153=)
c.471A>C (p.Gly157=)
c.380-4586A>C (n.380-4586A>C)
c.228A>C (p.Gly76=)
c.*462A>C (n.*462A>C)
c.666A>C (p.Gly222=)
c.435A>C (p.Gly145=)
c.678A>C (p.Gly226=)
9g.99137950A>GCA10627781TGFBR1c.459A>G (p.Gly153=)
c.471A>G (p.Gly157=)
c.380-4586A>G (n.380-4586A>G)
c.228A>G (p.Gly76=)
c.*462A>G (n.*462A>G)
c.666A>G (p.Gly222=)
c.435A>G (p.Gly145=)
c.678A>G (p.Gly226=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.99137950A>TCA466434188TGFBR1c.459A>T (p.Gly153=)
c.471A>T (p.Gly157=)
c.380-4586A>T (n.380-4586A>T)
c.228A>T (p.Gly76=)
c.*462A>T (n.*462A>T)
c.666A>T (p.Gly222=)
c.435A>T (p.Gly145=)
c.678A>T (p.Gly226=)
9g.99137951A>CCA374229623TGFBR1c.460A>C (p.Lys154Gln)
c.472A>C (p.Lys158Gln)
c.380-4585A>C (n.380-4585A>C)
c.229A>C (p.Lys77Gln)
c.*463A>C (n.*463A>C)
c.667A>C (p.Lys223Gln)
c.436A>C (p.Lys146Gln)
c.679A>C (p.Lys227Gln)
9g.99137951A>GCA374229621TGFBR1c.460A>G (p.Lys154Glu)
c.472A>G (p.Lys158Glu)
c.380-4585A>G (n.380-4585A>G)
c.229A>G (p.Lys77Glu)
c.*463A>G (n.*463A>G)
c.667A>G (p.Lys223Glu)
c.436A>G (p.Lys146Glu)
c.679A>G (p.Lys227Glu)
 dbSNP
9g.99137951A>TCA374229619TGFBR1c.460A>T (p.Lys154Ter)
c.472A>T (p.Lys158Ter)
c.380-4585A>T (n.380-4585A>T)
c.229A>T (p.Lys77Ter)
c.*463A>T (n.*463A>T)
c.667A>T (p.Lys223Ter)
c.436A>T (p.Lys146Ter)
c.679A>T (p.Lys227Ter)
 dbSNP
9g.99137952A>CCA374229627TGFBR1c.461A>C (p.Lys154Thr)
c.473A>C (p.Lys158Thr)
c.380-4584A>C (n.380-4584A>C)
c.230A>C (p.Lys77Thr)
c.*464A>C (n.*464A>C)
c.668A>C (p.Lys223Thr)
c.437A>C (p.Lys146Thr)
c.680A>C (p.Lys227Thr)
9g.99137952A>GCA374229624TGFBR1c.461A>G (p.Lys154Arg)
c.473A>G (p.Lys158Arg)
c.380-4584A>G (n.380-4584A>G)
c.230A>G (p.Lys77Arg)
c.*464A>G (n.*464A>G)
c.668A>G (p.Lys223Arg)
c.437A>G (p.Lys146Arg)
c.680A>G (p.Lys227Arg)
 dbSNP
9g.99137952A>TCA374229625TGFBR1c.461A>T (p.Lys154Met)
c.473A>T (p.Lys158Met)
c.380-4584A>T (n.380-4584A>T)
c.230A>T (p.Lys77Met)
c.*464A>T (n.*464A>T)
c.668A>T (p.Lys223Met)
c.437A>T (p.Lys146Met)
c.680A>T (p.Lys227Met)
 dbSNP
9g.99137953G>ACA466434189TGFBR1c.462G>A (p.Lys154=)
c.474G>A (p.Lys158=)
c.380-4583G>A (n.380-4583G>A)
c.231G>A (p.Lys77=)
c.*465G>A (n.*465G>A)
c.669G>A (p.Lys223=)
c.438G>A (p.Lys146=)
c.681G>A (p.Lys227=)
 dbSNP
9g.99137953G>CCA374229629TGFBR1c.462G>C (p.Lys154Asn)
c.474G>C (p.Lys158Asn)
c.380-4583G>C (n.380-4583G>C)
c.231G>C (p.Lys77Asn)
c.*465G>C (n.*465G>C)
c.669G>C (p.Lys223Asn)
c.438G>C (p.Lys146Asn)
c.681G>C (p.Lys227Asn)
 dbSNP
9g.99137953G>TCA374229630TGFBR1c.462G>T (p.Lys154Asn)
c.474G>T (p.Lys158Asn)
c.380-4583G>T (n.380-4583G>T)
c.231G>T (p.Lys77Asn)
c.*465G>T (n.*465G>T)
c.669G>T (p.Lys223Asn)
c.438G>T (p.Lys146Asn)
c.681G>T (p.Lys227Asn)
9g.99137953_99137961delCA2552107444TGFBR1c.462_470del (p.Trp155_Gly157del)
c.474_482del (p.Trp159_Gly161del)
c.380-4583_380-4575del (n.380-4583_380-4575del)
c.231_239del (p.Trp78_Gly80del)
c.*465_*473del (n.*465_*473del)
c.669_677del (p.Trp224_Gly226del)
c.438_446del (p.Trp147_Gly149del)
c.681_689del (p.Trp228_Gly230del)
9g.99137954T>ACA374229632TGFBR1c.463T>A (p.Trp155Arg)
c.475T>A (p.Trp159Arg)
c.380-4582T>A (n.380-4582T>A)
c.232T>A (p.Trp78Arg)
c.*466T>A (n.*466T>A)
c.670T>A (p.Trp224Arg)
c.439T>A (p.Trp147Arg)
c.682T>A (p.Trp228Arg)
 dbSNP
9g.99137954T>CCA374229634TGFBR1c.463T>C (p.Trp155Arg)
c.475T>C (p.Trp159Arg)
c.380-4582T>C (n.380-4582T>C)
c.232T>C (p.Trp78Arg)
c.*466T>C (n.*466T>C)
c.670T>C (p.Trp224Arg)
c.439T>C (p.Trp147Arg)
c.682T>C (p.Trp228Arg)
9g.99137954T>GCA374229635TGFBR1c.463T>G (p.Trp155Gly)
c.475T>G (p.Trp159Gly)
c.380-4582T>G (n.380-4582T>G)
c.232T>G (p.Trp78Gly)
c.*466T>G (n.*466T>G)
c.670T>G (p.Trp224Gly)
c.439T>G (p.Trp147Gly)
c.682T>G (p.Trp228Gly)
 dbSNP
9g.99137955G>ACA374229636TGFBR1c.464G>A (p.Trp155Ter)
c.476G>A (p.Trp159Ter)
c.380-4581G>A (n.380-4581G>A)
c.233G>A (p.Trp78Ter)
c.*467G>A (n.*467G>A)
c.671G>A (p.Trp224Ter)
c.440G>A (p.Trp147Ter)
c.683G>A (p.Trp228Ter)
 dbSNP
9g.99137955G>CCA374229637TGFBR1c.464G>C (p.Trp155Ser)
c.476G>C (p.Trp159Ser)
c.380-4581G>C (n.380-4581G>C)
c.233G>C (p.Trp78Ser)
c.*467G>C (n.*467G>C)
c.671G>C (p.Trp224Ser)
c.440G>C (p.Trp147Ser)
c.683G>C (p.Trp228Ser)
 dbSNP
9g.99137955G=CA1867255734TGFBR1c.464G= (p.Trp155=)
c.476G= (p.Trp159=)
c.380-4581G= (n.380-4581G=)
c.233G= (p.Trp78=)
c.*467G= (n.*467G=)
c.671G= (p.Trp224=)
c.440G= (p.Trp147=)
c.683G= (p.Trp228=)
9g.99137955G>TCA374229638TGFBR1c.464G>T (p.Trp155Leu)
c.476G>T (p.Trp159Leu)
c.380-4581G>T (n.380-4581G>T)
c.233G>T (p.Trp78Leu)
c.*467G>T (n.*467G>T)
c.671G>T (p.Trp224Leu)
c.440G>T (p.Trp147Leu)
c.683G>T (p.Trp228Leu)
 ClinVar dbSNP
9g.99137956G>ACA042712TGFBR1c.465G>A (p.Trp155Ter)
c.477G>A (p.Trp159Ter)
c.380-4580G>A (n.380-4580G>A)
c.234G>A (p.Trp78Ter)
c.*468G>A (n.*468G>A)
c.672G>A (p.Trp224Ter)
c.441G>A (p.Trp147Ter)
c.684G>A (p.Trp228Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.99137956G>CCA374229642TGFBR1c.465G>C (p.Trp155Cys)
c.477G>C (p.Trp159Cys)
c.380-4580G>C (n.380-4580G>C)
c.234G>C (p.Trp78Cys)
c.*468G>C (n.*468G>C)
c.672G>C (p.Trp224Cys)
c.441G>C (p.Trp147Cys)
c.684G>C (p.Trp228Cys)
 dbSNP
9g.99137956G=CA1867255739TGFBR1c.465G= (p.Trp155=)
c.477G= (p.Trp159=)
c.380-4580G= (n.380-4580G=)
c.234G= (p.Trp78=)
c.*468G= (n.*468G=)
c.672G= (p.Trp224=)
c.441G= (p.Trp147=)
c.684G= (p.Trp228=)
9g.99137956G>TCA374229640TGFBR1c.465G>T (p.Trp155Cys)
c.477G>T (p.Trp159Cys)
c.380-4580G>T (n.380-4580G>T)
c.234G>T (p.Trp78Cys)
c.*468G>T (n.*468G>T)
c.672G>T (p.Trp224Cys)
c.441G>T (p.Trp147Cys)
c.684G>T (p.Trp228Cys)
 dbSNP
9g.99137957C>ACA466434190TGFBR1c.466C>A (p.Arg156=)
c.478C>A (p.Arg160=)
c.380-4579C>A (n.380-4579C>A)
c.235C>A (p.Arg79=)
c.*469C>A (n.*469C>A)
c.673C>A (p.Arg225=)
c.442C>A (p.Arg148=)
c.685C>A (p.Arg229=)
9g.99137957C=CA1867255745TGFBR1c.466C= (p.Arg156=)
c.478C= (p.Arg160=)
c.380-4579C= (n.380-4579C=)
c.235C= (p.Arg79=)
c.*469C= (n.*469C=)
c.673C= (p.Arg225=)
c.442C= (p.Arg148=)
c.685C= (p.Arg229=)
9g.99137957C>GCA374229644TGFBR1c.466C>G (p.Arg156Gly)
c.478C>G (p.Arg160Gly)
c.380-4579C>G (n.380-4579C>G)
c.235C>G (p.Arg79Gly)
c.*469C>G (n.*469C>G)
c.673C>G (p.Arg225Gly)
c.442C>G (p.Arg148Gly)
c.685C>G (p.Arg229Gly)
 dbSNP gnomAD v2 gnomAD v4
9g.99137957C>TCA374229645TGFBR1c.466C>T (p.Arg156Trp)
c.478C>T (p.Arg160Trp)
c.380-4579C>T (n.380-4579C>T)
c.235C>T (p.Arg79Trp)
c.*469C>T (n.*469C>T)
c.673C>T (p.Arg225Trp)
c.442C>T (p.Arg148Trp)
c.685C>T (p.Arg229Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.99137958G>ACA374229646TGFBR1c.467G>A (p.Arg156Gln)
c.479G>A (p.Arg160Gln)
c.380-4578G>A (n.380-4578G>A)
c.236G>A (p.Arg79Gln)
c.*470G>A (n.*470G>A)
c.674G>A (p.Arg225Gln)
c.443G>A (p.Arg148Gln)
c.686G>A (p.Arg229Gln)
 ClinVar dbSNP gnomAD v4
9g.99137958G>CCA374229647TGFBR1c.467G>C (p.Arg156Pro)
c.479G>C (p.Arg160Pro)
c.380-4578G>C (n.380-4578G>C)
c.236G>C (p.Arg79Pro)
c.*470G>C (n.*470G>C)
c.674G>C (p.Arg225Pro)
c.443G>C (p.Arg148Pro)
c.686G>C (p.Arg229Pro)
 dbSNP
9g.99137958G=CA1867255749TGFBR1c.467G= (p.Arg156=)
c.479G= (p.Arg160=)
c.380-4578G= (n.380-4578G=)
c.236G= (p.Arg79=)
c.*470G= (n.*470G=)
c.674G= (p.Arg225=)
c.443G= (p.Arg148=)
c.686G= (p.Arg229=)
9g.99137958G>TCA374229648TGFBR1c.467G>T (p.Arg156Leu)
c.479G>T (p.Arg160Leu)
c.380-4578G>T (n.380-4578G>T)
c.236G>T (p.Arg79Leu)
c.*470G>T (n.*470G>T)
c.674G>T (p.Arg225Leu)
c.443G>T (p.Arg148Leu)
c.686G>T (p.Arg229Leu)
 dbSNP
9g.99137959_99137961dupCA589583288TGFBR1c.468_470dup (p.Gly157_Glu158insGly)
c.480_482dup (p.Gly161_Glu162insGly)
c.380-4577_380-4575dup (n.380-4577_380-4575dup)
c.237_239dup (p.Gly80_Glu81insGly)
c.*471_*473dup (n.*471_*473dup)
c.675_677dup (p.Gly226_Glu227insGly)
c.444_446dup (p.Gly149_Glu150insGly)
c.687_689dup (p.Gly230_Glu231insGly)
 gnomAD v2 COSMIC
9g.99137959G>ACA466434191TGFBR1c.468G>A (p.Arg156=)
c.480G>A (p.Arg160=)
c.380-4577G>A (n.380-4577G>A)
c.237G>A (p.Arg79=)
c.*471G>A (n.*471G>A)
c.675G>A (p.Arg225=)
c.444G>A (p.Arg148=)
c.687G>A (p.Arg229=)
 dbSNP gnomAD v4
9g.99137959G>CCA466434192TGFBR1c.468G>C (p.Arg156=)
c.480G>C (p.Arg160=)
c.380-4577G>C (n.380-4577G>C)
c.237G>C (p.Arg79=)
c.*471G>C (n.*471G>C)
c.675G>C (p.Arg225=)
c.444G>C (p.Arg148=)
c.687G>C (p.Arg229=)
 dbSNP
9g.99137959G>TCA466434193TGFBR1c.468G>T (p.Arg156=)
c.480G>T (p.Arg160=)
c.380-4577G>T (n.380-4577G>T)
c.237G>T (p.Arg79=)
c.*471G>T (n.*471G>T)
c.675G>T (p.Arg225=)
c.444G>T (p.Arg148=)
c.687G>T (p.Arg229=)
 dbSNP
9g.99137960G>ACA374229649TGFBR1c.469G>A (p.Gly157Arg)
c.481G>A (p.Gly161Arg)
c.380-4576G>A (n.380-4576G>A)
c.238G>A (p.Gly80Arg)
c.*472G>A (n.*472G>A)
c.676G>A (p.Gly226Arg)
c.445G>A (p.Gly149Arg)
c.688G>A (p.Gly230Arg)
 ClinVar dbSNP COSMIC
9g.99137960G>CCA374229650TGFBR1c.469G>C (p.Gly157Arg)
c.481G>C (p.Gly161Arg)
c.380-4576G>C (n.380-4576G>C)
c.238G>C (p.Gly80Arg)
c.*472G>C (n.*472G>C)
c.676G>C (p.Gly226Arg)
c.445G>C (p.Gly149Arg)
c.688G>C (p.Gly230Arg)
 dbSNP
9g.99137960G=CA1867255756TGFBR1c.469G= (p.Gly157=)
c.481G= (p.Gly161=)
c.380-4576G= (n.380-4576G=)
c.238G= (p.Gly80=)
c.*472G= (n.*472G=)
c.676G= (p.Gly226=)
c.445G= (p.Gly149=)
c.688G= (p.Gly230=)
9g.99137960G>TCA374229652TGFBR1c.469G>T (p.Gly157Ter)
c.481G>T (p.Gly161Ter)
c.380-4576G>T (n.380-4576G>T)
c.238G>T (p.Gly80Ter)
c.*472G>T (n.*472G>T)
c.676G>T (p.Gly226Ter)
c.445G>T (p.Gly149Ter)
c.688G>T (p.Gly230Ter)
 dbSNP
9g.99137961G>ACA374229653TGFBR1c.470G>A (p.Gly157Glu)
c.482G>A (p.Gly161Glu)
c.380-4575G>A (n.380-4575G>A)
c.239G>A (p.Gly80Glu)
c.*473G>A (n.*473G>A)
c.677G>A (p.Gly226Glu)
c.446G>A (p.Gly149Glu)
c.689G>A (p.Gly230Glu)
 dbSNP gnomAD v4
9g.99137961G>CCA374229655TGFBR1c.470G>C (p.Gly157Ala)
c.482G>C (p.Gly161Ala)
c.380-4575G>C (n.380-4575G>C)
c.239G>C (p.Gly80Ala)
c.*473G>C (n.*473G>C)
c.677G>C (p.Gly226Ala)
c.446G>C (p.Gly149Ala)
c.689G>C (p.Gly230Ala)
 dbSNP
9g.99137961G>TCA374229656TGFBR1c.470G>T (p.Gly157Val)
c.482G>T (p.Gly161Val)
c.380-4575G>T (n.380-4575G>T)
c.239G>T (p.Gly80Val)
c.*473G>T (n.*473G>T)
c.677G>T (p.Gly226Val)
c.446G>T (p.Gly149Val)
c.689G>T (p.Gly230Val)
 dbSNP
9g.99137961_99137964delinsGAGACA1867255759TGFBR1c.470_473delinsGAGA (p.Gly157=)
c.482_485delinsGAGA (p.Gly161=)
c.380-4575_380-4572delinsGAGA (n.380-4575_380-4572delinsGAGA)
c.239_242delinsGAGA (p.Gly80=)
c.*473_*476delinsGAGA (n.*473_*476delinsGAGA)
c.677_680delinsGAGA (p.Gly226=)
c.446_449delinsGAGA (p.Gly149=)
c.689_692delinsGAGA (p.Gly230=)
9g.99137962A=CA1867255766TGFBR1c.471A= (p.Gly157=)
c.483A= (p.Gly161=)
c.380-4574A= (n.380-4574A=)
c.240A= (p.Gly80=)
c.*474A= (n.*474A=)
c.678A= (p.Gly226=)
c.447A= (p.Gly149=)
c.690A= (p.Gly230=)
9g.99137962A>CCA466434195TGFBR1c.471A>C (p.Gly157=)
c.483A>C (p.Gly161=)
c.380-4574A>C (n.380-4574A>C)
c.240A>C (p.Gly80=)
c.*474A>C (n.*474A>C)
c.678A>C (p.Gly226=)
c.447A>C (p.Gly149=)
c.690A>C (p.Gly230=)
9g.99137962A>GCA042720TGFBR1c.471A>G (p.Gly157=)
c.483A>G (p.Gly161=)
c.380-4574A>G (n.380-4574A>G)
c.240A>G (p.Gly80=)
c.*474A>G (n.*474A>G)
c.678A>G (p.Gly226=)
c.447A>G (p.Gly149=)
c.690A>G (p.Gly230=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.99137962A>TCA466434194TGFBR1c.471A>T (p.Gly157=)
c.483A>T (p.Gly161=)
c.380-4574A>T (n.380-4574A>T)
c.240A>T (p.Gly80=)
c.*474A>T (n.*474A>T)
c.678A>T (p.Gly226=)
c.447A>T (p.Gly149=)
c.690A>T (p.Gly230=)
 dbSNP
9g.99137967_99137969delCA321828TGFBR1c.476_478del (p.Glu159del)
c.488_490del (p.Glu163del)
c.380-4569_380-4567del (n.380-4569_380-4567del)
c.245_247del (p.Glu82del)
c.*479_*481del (n.*479_*481del)
c.683_685del (p.Glu228del)
c.452_454del (p.Glu151del)
c.695_697del (p.Glu232del)
 ClinVar dbSNP
9g.99137963G>ACA16612704TGFBR1c.472G>A (p.Glu158Lys)
c.484G>A (p.Glu162Lys)
c.380-4573G>A (n.380-4573G>A)
c.241G>A (p.Glu81Lys)
c.*475G>A (n.*475G>A)
c.679G>A (p.Glu227Lys)
c.448G>A (p.Glu150Lys)
c.691G>A (p.Glu231Lys)
 ClinVar dbSNP
9g.99137963G>CCA374229659TGFBR1c.472G>C (p.Glu158Gln)
c.484G>C (p.Glu162Gln)
c.380-4573G>C (n.380-4573G>C)
c.241G>C (p.Glu81Gln)
c.*475G>C (n.*475G>C)
c.679G>C (p.Glu227Gln)
c.448G>C (p.Glu150Gln)
c.691G>C (p.Glu231Gln)
 dbSNP
9g.99137963G=CA1867255772TGFBR1c.472G= (p.Glu158=)
c.484G= (p.Glu162=)
c.380-4573G= (n.380-4573G=)
c.241G= (p.Glu81=)
c.*475G= (n.*475G=)
c.679G= (p.Glu227=)
c.448G= (p.Glu150=)
c.691G= (p.Glu231=)
9g.99137963G>TCA374229660TGFBR1c.472G>T (p.Glu158Ter)
c.484G>T (p.Glu162Ter)
c.380-4573G>T (n.380-4573G>T)
c.241G>T (p.Glu81Ter)
c.*475G>T (n.*475G>T)
c.679G>T (p.Glu227Ter)
c.448G>T (p.Glu150Ter)
c.691G>T (p.Glu231Ter)
9g.99137963_99137976delCA2515919060TGFBR1c.472_485del (p.Glu158Ter)
c.484_497del (p.Glu162Ter)
c.380-4573_380-4560del (n.380-4573_380-4560del)
c.241_254del (p.Glu81Ter)
c.*475_*488del (n.*475_*488del)
c.679_692del (p.Glu227Ter)
c.448_461del (p.Glu150Ter)
c.691_704del (p.Glu231Ter)
9g.99137964A=CA1867255778TGFBR1c.473A= (p.Glu158=)
c.485A= (p.Glu162=)
c.380-4572A= (n.380-4572A=)
c.242A= (p.Glu81=)
c.*476A= (n.*476A=)
c.680A= (p.Glu227=)
c.449A= (p.Glu150=)
c.692A= (p.Glu231=)
9g.99137964A>CCA374229661TGFBR1c.473A>C (p.Glu158Ala)
c.485A>C (p.Glu162Ala)
c.380-4572A>C (n.380-4572A>C)
c.242A>C (p.Glu81Ala)
c.*476A>C (n.*476A>C)
c.680A>C (p.Glu227Ala)
c.449A>C (p.Glu150Ala)
c.692A>C (p.Glu231Ala)
 ClinVar
9g.99137964A>GCA042734TGFBR1c.473A>G (p.Glu158Gly)
c.485A>G (p.Glu162Gly)
c.380-4572A>G (n.380-4572A>G)
c.242A>G (p.Glu81Gly)
c.*476A>G (n.*476A>G)
c.680A>G (p.Glu227Gly)
c.449A>G (p.Glu150Gly)
c.692A>G (p.Glu231Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.99137964A>TCA16618918TGFBR1c.473A>T (p.Glu158Val)
c.485A>T (p.Glu162Val)
c.380-4572A>T (n.380-4572A>T)
c.242A>T (p.Glu81Val)
c.*476A>T (n.*476A>T)
c.680A>T (p.Glu227Val)
c.449A>T (p.Glu150Val)
c.692A>T (p.Glu231Val)
 ClinVar dbSNP
9g.99137965A=CA1867255781TGFBR1c.474A= (p.Glu158=)
c.486A= (p.Glu162=)
c.380-4571A= (n.380-4571A=)
c.243A= (p.Glu81=)
c.*477A= (n.*477A=)
c.681A= (p.Glu227=)
c.450A= (p.Glu150=)
c.693A= (p.Glu231=)
9g.99137965A>CCA374229664TGFBR1c.474A>C (p.Glu158Asp)
c.486A>C (p.Glu162Asp)
c.380-4571A>C (n.380-4571A>C)
c.243A>C (p.Glu81Asp)
c.*477A>C (n.*477A>C)
c.681A>C (p.Glu227Asp)
c.450A>C (p.Glu150Asp)
c.693A>C (p.Glu231Asp)
9g.99137965A>GCA466434196TGFBR1c.474A>G (p.Glu158=)
c.486A>G (p.Glu162=)
c.380-4571A>G (n.380-4571A>G)
c.243A>G (p.Glu81=)
c.*477A>G (n.*477A>G)
c.681A>G (p.Glu227=)
c.450A>G (p.Glu150=)
c.693A>G (p.Glu231=)
 dbSNP gnomAD v2
9g.99137965A>TCA374229666TGFBR1c.474A>T (p.Glu158Asp)
c.486A>T (p.Glu162Asp)
c.380-4571A>T (n.380-4571A>T)
c.243A>T (p.Glu81Asp)
c.*477A>T (n.*477A>T)
c.681A>T (p.Glu227Asp)
c.450A>T (p.Glu150Asp)
c.693A>T (p.Glu231Asp)
 dbSNP
9g.99137966G>ACA374229668TGFBR1c.475G>A (p.Glu159Lys)
c.487G>A (p.Glu163Lys)
c.380-4570G>A (n.380-4570G>A)
c.244G>A (p.Glu82Lys)
c.*478G>A (n.*478G>A)
c.682G>A (p.Glu228Lys)
c.451G>A (p.Glu151Lys)
c.694G>A (p.Glu232Lys)
 dbSNP
9g.99137966G>CCA374229667TGFBR1c.475G>C (p.Glu159Gln)
c.487G>C (p.Glu163Gln)
c.380-4570G>C (n.380-4570G>C)
c.244G>C (p.Glu82Gln)
c.*478G>C (n.*478G>C)
c.682G>C (p.Glu228Gln)
c.451G>C (p.Glu151Gln)
c.694G>C (p.Glu232Gln)
 dbSNP
9g.99137966G>TCA374229670TGFBR1c.475G>T (p.Glu159Ter)
c.487G>T (p.Glu163Ter)
c.380-4570G>T (n.380-4570G>T)
c.244G>T (p.Glu82Ter)
c.*478G>T (n.*478G>T)
c.682G>T (p.Glu228Ter)
c.451G>T (p.Glu151Ter)
c.694G>T (p.Glu232Ter)
9g.99137967A>CCA374229674TGFBR1c.476A>C (p.Glu159Ala)
c.488A>C (p.Glu163Ala)
c.380-4569A>C (n.380-4569A>C)
c.245A>C (p.Glu82Ala)
c.*479A>C (n.*479A>C)
c.683A>C (p.Glu228Ala)
c.452A>C (p.Glu151Ala)
c.695A>C (p.Glu232Ala)
9g.99137967A>GCA374229671TGFBR1c.476A>G (p.Glu159Gly)
c.488A>G (p.Glu163Gly)
c.380-4569A>G (n.380-4569A>G)
c.245A>G (p.Glu82Gly)
c.*479A>G (n.*479A>G)
c.683A>G (p.Glu228Gly)
c.452A>G (p.Glu151Gly)
c.695A>G (p.Glu232Gly)
9g.99137967A>TCA374229673TGFBR1c.476A>T (p.Glu159Val)
c.488A>T (p.Glu163Val)
c.380-4569A>T (n.380-4569A>T)
c.245A>T (p.Glu82Val)
c.*479A>T (n.*479A>T)
c.683A>T (p.Glu228Val)
c.452A>T (p.Glu151Val)
c.695A>T (p.Glu232Val)
 COSMIC
9g.99137968A>CCA374229680TGFBR1c.477A>C (p.Glu159Asp)
c.489A>C (p.Glu163Asp)
c.380-4568A>C (n.380-4568A>C)
c.246A>C (p.Glu82Asp)
c.*480A>C (n.*480A>C)
c.684A>C (p.Glu228Asp)
c.453A>C (p.Glu151Asp)
c.696A>C (p.Glu232Asp)
9g.99137968A>GCA466434197TGFBR1c.477A>G (p.Glu159=)
c.489A>G (p.Glu163=)
c.380-4568A>G (n.380-4568A>G)
c.246A>G (p.Glu82=)
c.*480A>G (n.*480A>G)
c.684A>G (p.Glu228=)
c.453A>G (p.Glu151=)
c.696A>G (p.Glu232=)
 dbSNP
9g.99137968A>TCA374229682TGFBR1c.477A>T (p.Glu159Asp)
c.489A>T (p.Glu163Asp)
c.380-4568A>T (n.380-4568A>T)
c.246A>T (p.Glu82Asp)
c.*480A>T (n.*480A>T)
c.684A>T (p.Glu228Asp)
c.453A>T (p.Glu151Asp)
c.696A>T (p.Glu232Asp)
 dbSNP
9g.99137969G>ACA374229684TGFBR1c.478G>A (p.Val160Ile)
c.490G>A (p.Val164Ile)
c.380-4567G>A (n.380-4567G>A)
c.247G>A (p.Val83Ile)
c.*481G>A (n.*481G>A)
c.685G>A (p.Val229Ile)
c.454G>A (p.Val152Ile)
c.697G>A (p.Val233Ile)
 dbSNP
9g.99137969G>CCA374229685TGFBR1c.478G>C (p.Val160Leu)
c.490G>C (p.Val164Leu)
c.380-4567G>C (n.380-4567G>C)
c.247G>C (p.Val83Leu)
c.*481G>C (n.*481G>C)
c.685G>C (p.Val229Leu)
c.454G>C (p.Val152Leu)
c.697G>C (p.Val233Leu)
 ClinVar dbSNP
9g.99137969G=CA1867255785TGFBR1c.478G= (p.Val160=)
c.490G= (p.Val164=)
c.380-4567G= (n.380-4567G=)
c.247G= (p.Val83=)
c.*481G= (n.*481G=)
c.685G= (p.Val229=)
c.454G= (p.Val152=)
c.697G= (p.Val233=)
9g.99137969G>TCA374229687TGFBR1c.478G>T (p.Val160Phe)
c.490G>T (p.Val164Phe)
c.380-4567G>T (n.380-4567G>T)
c.247G>T (p.Val83Phe)
c.*481G>T (n.*481G>T)
c.685G>T (p.Val229Phe)
c.454G>T (p.Val152Phe)
c.697G>T (p.Val233Phe)
9g.99137970T>ACA374229688TGFBR1c.479T>A (p.Val160Asp)
c.491T>A (p.Val164Asp)
c.380-4566T>A (n.380-4566T>A)
c.248T>A (p.Val83Asp)
c.*482T>A (n.*482T>A)
c.686T>A (p.Val229Asp)
c.455T>A (p.Val152Asp)
c.698T>A (p.Val233Asp)
 dbSNP
9g.99137970T>CCA374229690TGFBR1c.479T>C (p.Val160Ala)
c.491T>C (p.Val164Ala)
c.380-4566T>C (n.380-4566T>C)
c.248T>C (p.Val83Ala)
c.*482T>C (n.*482T>C)
c.686T>C (p.Val229Ala)
c.455T>C (p.Val152Ala)
c.698T>C (p.Val233Ala)
 ClinVar dbSNP
9g.99137970T>GCA374229691TGFBR1c.479T>G (p.Val160Gly)
c.491T>G (p.Val164Gly)
c.380-4566T>G (n.380-4566T>G)
c.248T>G (p.Val83Gly)
c.*482T>G (n.*482T>G)
c.686T>G (p.Val229Gly)
c.455T>G (p.Val152Gly)
c.698T>G (p.Val233Gly)
 dbSNP
9g.99137970T=CA1867255787TGFBR1c.479T= (p.Val160=)
c.491T= (p.Val164=)
c.380-4566T= (n.380-4566T=)
c.248T= (p.Val83=)
c.*482T= (n.*482T=)
c.686T= (p.Val229=)
c.455T= (p.Val152=)
c.698T= (p.Val233=)
9g.99137971dupCA918517626TGFBR1c.480dup (p.Ala161CysfsTer3)
c.492dup (p.Ala165CysfsTer3)
c.380-4565dup (n.380-4565dup)
c.249dup (p.Ala84CysfsTer3)
c.*483dup (n.*483dup)
c.687dup (p.Ala230CysfsTer3)
c.456dup (p.Ala153CysfsTer3)
c.699dup (p.Ala234CysfsTer3)
 dbSNP
9g.99137971T>ACA466434198TGFBR1c.480T>A (p.Val160=)
c.492T>A (p.Val164=)
c.380-4565T>A (n.380-4565T>A)
c.249T>A (p.Val83=)
c.*483T>A (n.*483T>A)
c.687T>A (p.Val229=)
c.456T>A (p.Val152=)
c.699T>A (p.Val233=)
 dbSNP
9g.99137971T>CCA466434199TGFBR1c.480T>C (p.Val160=)
c.492T>C (p.Val164=)
c.380-4565T>C (n.380-4565T>C)
c.249T>C (p.Val83=)
c.*483T>C (n.*483T>C)
c.687T>C (p.Val229=)
c.456T>C (p.Val152=)
c.699T>C (p.Val233=)
 dbSNP
9g.99137971T>GCA466434200TGFBR1c.480T>G (p.Val160=)
c.492T>G (p.Val164=)
c.380-4565T>G (n.380-4565T>G)
c.249T>G (p.Val83=)
c.*483T>G (n.*483T>G)
c.687T>G (p.Val229=)
c.456T>G (p.Val152=)
c.699T>G (p.Val233=)
 dbSNP
9g.99137971T=CA1867255790TGFBR1c.480T= (p.Val160=)
c.492T= (p.Val164=)
c.380-4565T= (n.380-4565T=)
c.249T= (p.Val83=)
c.*483T= (n.*483T=)
c.687T= (p.Val229=)
c.456T= (p.Val152=)
c.699T= (p.Val233=)
9g.99137971_99137972insACA2690965847TGFBR1c.480_481insA (p.Ala161SerfsTer3)
c.492_493insA (p.Ala165SerfsTer3)
c.380-4565_380-4564insA (n.380-4565_380-4564insA)
c.249_250insA (p.Ala84SerfsTer3)
c.*483_*484insA (n.*483_*484insA)
c.687_688insA (p.Ala230SerfsTer3)
c.456_457insA (p.Ala153SerfsTer3)
c.699_700insA (p.Ala234SerfsTer3)
 gnomAD v4
9g.99137972G>ACA374229692TGFBR1c.481G>A (p.Ala161Thr)
c.493G>A (p.Ala165Thr)
c.380-4564G>A (n.380-4564G>A)
c.250G>A (p.Ala84Thr)
c.*484G>A (n.*484G>A)
c.688G>A (p.Ala230Thr)
c.457G>A (p.Ala153Thr)
c.700G>A (p.Ala234Thr)
 dbSNP
9g.99137972G>CCA374229695TGFBR1c.481G>C (p.Ala161Pro)
c.493G>C (p.Ala165Pro)
c.380-4564G>C (n.380-4564G>C)
c.250G>C (p.Ala84Pro)
c.*484G>C (n.*484G>C)
c.688G>C (p.Ala230Pro)
c.457G>C (p.Ala153Pro)
c.700G>C (p.Ala234Pro)
 dbSNP
9g.99137972G>TCA374229693TGFBR1c.481G>T (p.Ala161Ser)
c.493G>T (p.Ala165Ser)
c.380-4564G>T (n.380-4564G>T)
c.250G>T (p.Ala84Ser)
c.*484G>T (n.*484G>T)
c.688G>T (p.Ala230Ser)
c.457G>T (p.Ala153Ser)
c.700G>T (p.Ala234Ser)
 dbSNP
9g.99137973C>ACA374229696TGFBR1c.482C>A (p.Ala161Asp)
c.494C>A (p.Ala165Asp)
c.380-4563C>A (n.380-4563C>A)
c.251C>A (p.Ala84Asp)
c.*485C>A (n.*485C>A)
c.689C>A (p.Ala230Asp)
c.458C>A (p.Ala153Asp)
c.701C>A (p.Ala234Asp)
 dbSNP
9g.99137973C>GCA374229697TGFBR1c.482C>G (p.Ala161Gly)
c.494C>G (p.Ala165Gly)
c.380-4563C>G (n.380-4563C>G)
c.251C>G (p.Ala84Gly)
c.*485C>G (n.*485C>G)
c.689C>G (p.Ala230Gly)
c.458C>G (p.Ala153Gly)
c.701C>G (p.Ala234Gly)
 dbSNP
9g.99137973C>TCA374229698TGFBR1c.482C>T (p.Ala161Val)
c.494C>T (p.Ala165Val)
c.380-4563C>T (n.380-4563C>T)
c.251C>T (p.Ala84Val)
c.*485C>T (n.*485C>T)
c.689C>T (p.Ala230Val)
c.458C>T (p.Ala153Val)
c.701C>T (p.Ala234Val)
 dbSNP
9g.99137974T>ACA466434201TGFBR1c.483T>A (p.Ala161=)
c.495T>A (p.Ala165=)
c.380-4562T>A (n.380-4562T>A)
c.252T>A (p.Ala84=)
c.*486T>A (n.*486T>A)
c.690T>A (p.Ala230=)
c.459T>A (p.Ala153=)
c.702T>A (p.Ala234=)
 dbSNP
9g.99137974T>CCA466434202TGFBR1c.483T>C (p.Ala161=)
c.495T>C (p.Ala165=)
c.380-4562T>C (n.380-4562T>C)
c.252T>C (p.Ala84=)
c.*486T>C (n.*486T>C)
c.690T>C (p.Ala230=)
c.459T>C (p.Ala153=)
c.702T>C (p.Ala234=)
 ClinVar gnomAD v4
9g.99137974T>GCA466434203TGFBR1c.483T>G (p.Ala161=)
c.495T>G (p.Ala165=)
c.380-4562T>G (n.380-4562T>G)
c.252T>G (p.Ala84=)
c.*486T>G (n.*486T>G)
c.690T>G (p.Ala230=)
c.459T>G (p.Ala153=)
c.702T>G (p.Ala234=)
9g.99137975_99137984delCA2690965848TGFBR1c.484_493del (p.Val162SerfsTer19)
c.496_505del (p.Val166SerfsTer19)
c.380-4561_380-4552del (n.380-4561_380-4552del)
c.253_262del (p.Val85SerfsTer19)
c.*487_*496del (n.*487_*496del)
c.691_700del (p.Val231SerfsTer19)
c.460_469del (p.Val154SerfsTer19)
c.703_712del (p.Val235SerfsTer19)
 gnomAD v4
9g.99137975G>ACA374229699TGFBR1c.484G>A (p.Val162Ile)
c.496G>A (p.Val166Ile)
c.380-4561G>A (n.380-4561G>A)
c.253G>A (p.Val85Ile)
c.*487G>A (n.*487G>A)
c.691G>A (p.Val231Ile)
c.460G>A (p.Val154Ile)
c.703G>A (p.Val235Ile)
 ClinVar dbSNP
9g.99137975G>CCA374229700TGFBR1c.484G>C (p.Val162Leu)
c.496G>C (p.Val166Leu)
c.380-4561G>C (n.380-4561G>C)
c.253G>C (p.Val85Leu)
c.*487G>C (n.*487G>C)
c.691G>C (p.Val231Leu)
c.460G>C (p.Val154Leu)
c.703G>C (p.Val235Leu)
 ClinVar dbSNP
9g.99137975G=CA1867255792TGFBR1c.484G= (p.Val162=)
c.496G= (p.Val166=)
c.380-4561G= (n.380-4561G=)
c.253G= (p.Val85=)
c.*487G= (n.*487G=)
c.691G= (p.Val231=)
c.460G= (p.Val154=)
c.703G= (p.Val235=)
9g.99137975G>TCA374229701TGFBR1c.484G>T (p.Val162Phe)
c.496G>T (p.Val166Phe)
c.380-4561G>T (n.380-4561G>T)
c.253G>T (p.Val85Phe)
c.*487G>T (n.*487G>T)
c.691G>T (p.Val231Phe)
c.460G>T (p.Val154Phe)
c.703G>T (p.Val235Phe)
9g.99137976T>ACA374229702TGFBR1c.485T>A (p.Val162Asp)
c.497T>A (p.Val166Asp)
c.380-4560T>A (n.380-4560T>A)
c.254T>A (p.Val85Asp)
c.*488T>A (n.*488T>A)
c.692T>A (p.Val231Asp)
c.461T>A (p.Val154Asp)
c.704T>A (p.Val235Asp)
 dbSNP
9g.99137976T>CCA374229703TGFBR1c.485T>C (p.Val162Ala)
c.497T>C (p.Val166Ala)
c.380-4560T>C (n.380-4560T>C)
c.254T>C (p.Val85Ala)
c.*488T>C (n.*488T>C)
c.692T>C (p.Val231Ala)
c.461T>C (p.Val154Ala)
c.704T>C (p.Val235Ala)
 dbSNP
9g.99137976T>GCA374229704TGFBR1c.485T>G (p.Val162Gly)
c.497T>G (p.Val166Gly)
c.380-4560T>G (n.380-4560T>G)
c.254T>G (p.Val85Gly)
c.*488T>G (n.*488T>G)
c.692T>G (p.Val231Gly)
c.461T>G (p.Val154Gly)
c.704T>G (p.Val235Gly)
 ClinVar dbSNP
9g.99137977T>ACA466434204TGFBR1c.486T>A (p.Val162=)
c.498T>A (p.Val166=)
c.380-4559T>A (n.380-4559T>A)
c.255T>A (p.Val85=)
c.*489T>A (n.*489T>A)
c.693T>A (p.Val231=)
c.462T>A (p.Val154=)
c.705T>A (p.Val235=)
 dbSNP
9g.99137977T>CCA466434205TGFBR1c.486T>C (p.Val162=)
c.498T>C (p.Val166=)
c.380-4559T>C (n.380-4559T>C)
c.255T>C (p.Val85=)
c.*489T>C (n.*489T>C)
c.693T>C (p.Val231=)
c.462T>C (p.Val154=)
c.705T>C (p.Val235=)
9g.99137977T>GCA466434206TGFBR1c.486T>G (p.Val162=)
c.498T>G (p.Val166=)
c.380-4559T>G (n.380-4559T>G)
c.255T>G (p.Val85=)
c.*489T>G (n.*489T>G)
c.693T>G (p.Val231=)
c.462T>G (p.Val154=)
c.705T>G (p.Val235=)
 dbSNP
9g.99137977_99137983delinsCCA2695210824TGFBR1c.486_492delinsC (p.Lys163_Ile164del)
c.498_504delinsC (p.Lys167_Ile168del)
c.380-4559_380-4553delinsC (n.380-4559_380-4553delinsC)
c.255_261delinsC (p.Lys86_Ile87del)
c.*489_*495delinsC (n.*489_*495delinsC)
c.693_699delinsC (p.Lys232_Ile233del)
c.462_468delinsC (p.Lys155_Ile156del)
c.705_711delinsC (p.Lys236_Ile237del)
9g.99137978A=CA1867255794TGFBR1c.487A= (p.Lys163=)
c.499A= (p.Lys167=)
c.380-4558A= (n.380-4558A=)
c.256A= (p.Lys86=)
c.*490A= (n.*490A=)
c.694A= (p.Lys232=)
c.463A= (p.Lys155=)
c.706A= (p.Lys236=)
9g.99137978A>CCA374229708TGFBR1c.487A>C (p.Lys163Gln)
c.499A>C (p.Lys167Gln)
c.380-4558A>C (n.380-4558A>C)
c.256A>C (p.Lys86Gln)
c.*490A>C (n.*490A>C)
c.694A>C (p.Lys232Gln)
c.463A>C (p.Lys155Gln)
c.706A>C (p.Lys236Gln)
9g.99137978A>GCA374229710TGFBR1c.487A>G (p.Lys163Glu)
c.499A>G (p.Lys167Glu)
c.380-4558A>G (n.380-4558A>G)
c.256A>G (p.Lys86Glu)
c.*490A>G (n.*490A>G)
c.694A>G (p.Lys232Glu)
c.463A>G (p.Lys155Glu)
c.706A>G (p.Lys236Glu)
9g.99137978A>TCA374229706TGFBR1c.487A>T (p.Lys163Ter)
c.499A>T (p.Lys167Ter)
c.380-4558A>T (n.380-4558A>T)
c.256A>T (p.Lys86Ter)
c.*490A>T (n.*490A>T)
c.694A>T (p.Lys232Ter)
c.463A>T (p.Lys155Ter)
c.706A>T (p.Lys236Ter)
 ClinVar dbSNP
9g.99137979delCA2690965849TGFBR1c.488del (p.Lys163ArgfsTer21)
c.500del (p.Lys167ArgfsTer21)
c.380-4557del (n.380-4557del)
c.257del (p.Lys86ArgfsTer21)
c.*491del (n.*491del)
c.695del (p.Lys232ArgfsTer21)
c.464del (p.Lys155ArgfsTer21)
c.707del (p.Lys236ArgfsTer21)
 gnomAD v4
9g.99137979A>CCA374229711TGFBR1c.488A>C (p.Lys163Thr)
c.500A>C (p.Lys167Thr)
c.380-4557A>C (n.380-4557A>C)
c.257A>C (p.Lys86Thr)
c.*491A>C (n.*491A>C)
c.695A>C (p.Lys232Thr)
c.464A>C (p.Lys155Thr)
c.707A>C (p.Lys236Thr)
9g.99137979A>GCA374229712TGFBR1c.488A>G (p.Lys163Arg)
c.500A>G (p.Lys167Arg)
c.380-4557A>G (n.380-4557A>G)
c.257A>G (p.Lys86Arg)
c.*491A>G (n.*491A>G)
c.695A>G (p.Lys232Arg)
c.464A>G (p.Lys155Arg)
c.707A>G (p.Lys236Arg)
9g.99137979A>TCA374229714TGFBR1c.488A>T (p.Lys163Met)
c.500A>T (p.Lys167Met)
c.380-4557A>T (n.380-4557A>T)
c.257A>T (p.Lys86Met)
c.*491A>T (n.*491A>T)
c.695A>T (p.Lys232Met)
c.464A>T (p.Lys155Met)
c.707A>T (p.Lys236Met)
 dbSNP
9g.99137980G>ACA466434207TGFBR1c.489G>A (p.Lys163=)
c.501G>A (p.Lys167=)
c.380-4556G>A (n.380-4556G>A)
c.258G>A (p.Lys86=)
c.*492G>A (n.*492G>A)
c.696G>A (p.Lys232=)
c.465G>A (p.Lys155=)
c.708G>A (p.Lys236=)
 dbSNP
9g.99137980G>CCA325117TGFBR1c.489G>C (p.Lys163Asn)
c.501G>C (p.Lys167Asn)
c.380-4556G>C (n.380-4556G>C)
c.258G>C (p.Lys86Asn)
c.*492G>C (n.*492G>C)
c.696G>C (p.Lys232Asn)
c.465G>C (p.Lys155Asn)
c.708G>C (p.Lys236Asn)
 ClinVar dbSNP COSMIC
9g.99137980G=CA1867255798TGFBR1c.489G= (p.Lys163=)
c.501G= (p.Lys167=)
c.380-4556G= (n.380-4556G=)
c.258G= (p.Lys86=)
c.*492G= (n.*492G=)
c.696G= (p.Lys232=)
c.465G= (p.Lys155=)
c.708G= (p.Lys236=)
9g.99137980G>TCA374229716TGFBR1c.489G>T (p.Lys163Asn)
c.501G>T (p.Lys167Asn)
c.380-4556G>T (n.380-4556G>T)
c.258G>T (p.Lys86Asn)
c.*492G>T (n.*492G>T)
c.696G>T (p.Lys232Asn)
c.465G>T (p.Lys155Asn)
c.708G>T (p.Lys236Asn)
 dbSNP gnomAD v4
9g.99137981A>CCA374229718TGFBR1c.490A>C (p.Ile164Leu)
c.502A>C (p.Ile168Leu)
c.380-4555A>C (n.380-4555A>C)
c.259A>C (p.Ile87Leu)
c.*493A>C (n.*493A>C)
c.697A>C (p.Ile233Leu)
c.466A>C (p.Ile156Leu)
c.709A>C (p.Ile237Leu)
9g.99137981A>GCA374229719TGFBR1c.490A>G (p.Ile164Val)
c.502A>G (p.Ile168Val)
c.380-4555A>G (n.380-4555A>G)
c.259A>G (p.Ile87Val)
c.*493A>G (n.*493A>G)
c.697A>G (p.Ile233Val)
c.466A>G (p.Ile156Val)
c.709A>G (p.Ile237Val)
9g.99137981A>TCA374229720TGFBR1c.490A>T (p.Ile164Leu)
c.502A>T (p.Ile168Leu)
c.380-4555A>T (n.380-4555A>T)
c.259A>T (p.Ile87Leu)
c.*493A>T (n.*493A>T)
c.697A>T (p.Ile233Leu)
c.466A>T (p.Ile156Leu)
c.709A>T (p.Ile237Leu)
 dbSNP
9g.99137982T>ACA374229721TGFBR1c.491T>A (p.Ile164Lys)
c.503T>A (p.Ile168Lys)
c.380-4554T>A (n.380-4554T>A)
c.260T>A (p.Ile87Lys)
c.*494T>A (n.*494T>A)
c.698T>A (p.Ile233Lys)
c.467T>A (p.Ile156Lys)
c.710T>A (p.Ile237Lys)
 dbSNP
9g.99137982T>CCA374229722TGFBR1c.491T>C (p.Ile164Thr)
c.503T>C (p.Ile168Thr)
c.380-4554T>C (n.380-4554T>C)
c.260T>C (p.Ile87Thr)
c.*494T>C (n.*494T>C)
c.698T>C (p.Ile233Thr)
c.467T>C (p.Ile156Thr)
c.710T>C (p.Ile237Thr)
9g.99137982T>GCA374229723TGFBR1c.491T>G (p.Ile164Arg)
c.503T>G (p.Ile168Arg)
c.380-4554T>G (n.380-4554T>G)
c.260T>G (p.Ile87Arg)
c.*494T>G (n.*494T>G)
c.698T>G (p.Ile233Arg)
c.467T>G (p.Ile156Arg)
c.710T>G (p.Ile237Arg)
 dbSNP
9g.99137983A>CCA466434209TGFBR1c.492A>C (p.Ile164=)
c.504A>C (p.Ile168=)
c.380-4553A>C (n.380-4553A>C)
c.261A>C (p.Ile87=)
c.*495A>C (n.*495A>C)
c.699A>C (p.Ile233=)
c.468A>C (p.Ile156=)
c.711A>C (p.Ile237=)
 dbSNP
9g.99137983A>GCA374229724TGFBR1c.492A>G (p.Ile164Met)
c.504A>G (p.Ile168Met)
c.380-4553A>G (n.380-4553A>G)
c.261A>G (p.Ile87Met)
c.*495A>G (n.*495A>G)
c.699A>G (p.Ile233Met)
c.468A>G (p.Ile156Met)
c.711A>G (p.Ile237Met)
9g.99137983A>TCA466434208TGFBR1c.492A>T (p.Ile164=)
c.504A>T (p.Ile168=)
c.380-4553A>T (n.380-4553A>T)
c.261A>T (p.Ile87=)
c.*495A>T (n.*495A>T)
c.699A>T (p.Ile233=)
c.468A>T (p.Ile156=)
c.711A>T (p.Ile237=)
 ClinVar dbSNP
9g.99137984T>ACA374229727TGFBR1c.493T>A (p.Phe165Ile)
c.505T>A (p.Phe169Ile)
c.380-4552T>A (n.380-4552T>A)
c.262T>A (p.Phe88Ile)
c.*496T>A (n.*496T>A)
c.700T>A (p.Phe234Ile)
c.469T>A (p.Phe157Ile)
c.712T>A (p.Phe238Ile)
 dbSNP
9g.99137984T>CCA16612911TGFBR1c.493T>C (p.Phe165Leu)
c.505T>C (p.Phe169Leu)
c.380-4552T>C (n.380-4552T>C)
c.262T>C (p.Phe88Leu)
c.*496T>C (n.*496T>C)
c.700T>C (p.Phe234Leu)
c.469T>C (p.Phe157Leu)
c.712T>C (p.Phe238Leu)
 ClinVar dbSNP
9g.99137984T>GCA374229726TGFBR1c.493T>G (p.Phe165Val)
c.505T>G (p.Phe169Val)
c.380-4552T>G (n.380-4552T>G)
c.262T>G (p.Phe88Val)
c.*496T>G (n.*496T>G)
c.700T>G (p.Phe234Val)
c.469T>G (p.Phe157Val)
c.712T>G (p.Phe238Val)
 dbSNP gnomAD v4
9g.99137984T=CA1867255804TGFBR1c.493T= (p.Phe165=)
c.505T= (p.Phe169=)
c.380-4552T= (n.380-4552T=)
c.262T= (p.Phe88=)
c.*496T= (n.*496T=)
c.700T= (p.Phe234=)
c.469T= (p.Phe157=)
c.712T= (p.Phe238=)
9g.99137985T>ACA374229728TGFBR1c.494T>A (p.Phe165Tyr)
c.506T>A (p.Phe169Tyr)
c.380-4551T>A (n.380-4551T>A)
c.263T>A (p.Phe88Tyr)
c.*497T>A (n.*497T>A)
c.701T>A (p.Phe234Tyr)
c.470T>A (p.Phe157Tyr)
c.713T>A (p.Phe238Tyr)
 dbSNP
9g.99137985T>CCA374229729TGFBR1c.494T>C (p.Phe165Ser)
c.506T>C (p.Phe169Ser)
c.380-4551T>C (n.380-4551T>C)
c.263T>C (p.Phe88Ser)
c.*497T>C (n.*497T>C)
c.701T>C (p.Phe234Ser)
c.470T>C (p.Phe157Ser)
c.713T>C (p.Phe238Ser)
9g.99137985T>GCA374229730TGFBR1c.494T>G (p.Phe165Cys)
c.506T>G (p.Phe169Cys)
c.380-4551T>G (n.380-4551T>G)
c.263T>G (p.Phe88Cys)
c.*497T>G (n.*497T>G)
c.701T>G (p.Phe234Cys)
c.470T>G (p.Phe157Cys)
c.713T>G (p.Phe238Cys)
 ClinVar
9g.99137985_99137988delinsTCTCCA1867255808TGFBR1c.494_497delinsTCTC (p.Phe165=)
c.506_509delinsTCTC (p.Phe169=)
c.380-4551_380-4548delinsTCTC (n.380-4551_380-4548delinsTCTC)
c.263_266delinsTCTC (p.Phe88=)
c.*497_*500delinsTCTC (n.*497_*500delinsTCTC)
c.701_704delinsTCTC (p.Phe234=)
c.470_473delinsTCTC (p.Phe157=)
c.713_716delinsTCTC (p.Phe238=)
9g.99137986C>ACA374229731TGFBR1c.495C>A (p.Phe165Leu)
c.507C>A (p.Phe169Leu)
c.380-4550C>A (n.380-4550C>A)
c.264C>A (p.Phe88Leu)
c.*498C>A (n.*498C>A)
c.702C>A (p.Phe234Leu)
c.471C>A (p.Phe157Leu)
c.714C>A (p.Phe238Leu)
 dbSNP
9g.99137986C=CA1867255816TGFBR1c.495C= (p.Phe165=)
c.507C= (p.Phe169=)
c.380-4550C= (n.380-4550C=)
c.264C= (p.Phe88=)
c.*498C= (n.*498C=)
c.702C= (p.Phe234=)
c.471C= (p.Phe157=)
c.714C= (p.Phe238=)
9g.99137986C>GCA374229732TGFBR1c.495C>G (p.Phe165Leu)
c.507C>G (p.Phe169Leu)
c.380-4550C>G (n.380-4550C>G)
c.264C>G (p.Phe88Leu)
c.*498C>G (n.*498C>G)
c.702C>G (p.Phe234Leu)
c.471C>G (p.Phe157Leu)
c.714C>G (p.Phe238Leu)
 dbSNP gnomAD v2 gnomAD v4
9g.99137986C>TCA196889032TGFBR1c.495C>T (p.Phe165=)
c.507C>T (p.Phe169=)
c.380-4550C>T (n.380-4550C>T)
c.264C>T (p.Phe88=)
c.*498C>T (n.*498C>T)
c.702C>T (p.Phe234=)
c.471C>T (p.Phe157=)
c.714C>T (p.Phe238=)
 ClinVar dbSNP gnomAD v4
9g.99137989_99137991delCA323464TGFBR1c.498_500del (p.Ser167del)
c.510_512del (p.Ser171del)
c.380-4547_380-4545del (n.380-4547_380-4545del)
c.267_269del (p.Ser90del)
c.*501_*503del (n.*501_*503del)
c.705_707del (p.Ser236del)
c.474_476del (p.Ser159del)
c.717_719del (p.Ser240del)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
9g.99137987T>ACA374229734TGFBR1c.496T>A (p.Ser166Thr)
c.508T>A (p.Ser170Thr)
c.380-4549T>A (n.380-4549T>A)
c.265T>A (p.Ser89Thr)
c.*499T>A (n.*499T>A)
c.703T>A (p.Ser235Thr)
c.472T>A (p.Ser158Thr)
c.715T>A (p.Ser239Thr)
 dbSNP
9g.99137987T>CCA374229736TGFBR1c.496T>C (p.Ser166Pro)
c.508T>C (p.Ser170Pro)
c.380-4549T>C (n.380-4549T>C)
c.265T>C (p.Ser89Pro)
c.*499T>C (n.*499T>C)
c.703T>C (p.Ser235Pro)
c.472T>C (p.Ser158Pro)
c.715T>C (p.Ser239Pro)
9g.99137987T>GCA374229738TGFBR1c.496T>G (p.Ser166Ala)
c.508T>G (p.Ser170Ala)
c.380-4549T>G (n.380-4549T>G)
c.265T>G (p.Ser89Ala)
c.*499T>G (n.*499T>G)
c.703T>G (p.Ser235Ala)
c.472T>G (p.Ser158Ala)
c.715T>G (p.Ser239Ala)
 dbSNP
9g.99137987T=CA1867255821TGFBR1c.496T= (p.Ser166=)
c.508T= (p.Ser170=)
c.380-4549T= (n.380-4549T=)
c.265T= (p.Ser89=)
c.*499T= (n.*499T=)
c.703T= (p.Ser235=)
c.472T= (p.Ser158=)
c.715T= (p.Ser239=)
9g.99137988C>ACA374229739TGFBR1c.497C>A (p.Ser166Tyr)
c.509C>A (p.Ser170Tyr)
c.380-4548C>A (n.380-4548C>A)
c.266C>A (p.Ser89Tyr)
c.*500C>A (n.*500C>A)
c.704C>A (p.Ser235Tyr)
c.473C>A (p.Ser158Tyr)
c.716C>A (p.Ser239Tyr)
 dbSNP
9g.99137988C=CA1867255827TGFBR1c.497C= (p.Ser166=)
c.509C= (p.Ser170=)
c.380-4548C= (n.380-4548C=)
c.266C= (p.Ser89=)
c.*500C= (n.*500C=)
c.704C= (p.Ser235=)
c.473C= (p.Ser158=)
c.716C= (p.Ser239=)
9g.99137988C>GCA374229740TGFBR1c.497C>G (p.Ser166Cys)
c.509C>G (p.Ser170Cys)
c.380-4548C>G (n.380-4548C>G)
c.266C>G (p.Ser89Cys)
c.*500C>G (n.*500C>G)
c.704C>G (p.Ser235Cys)
c.473C>G (p.Ser158Cys)
c.716C>G (p.Ser239Cys)
 dbSNP
9g.99137988C>TCA374229742TGFBR1c.497C>T (p.Ser166Phe)
c.509C>T (p.Ser170Phe)
c.380-4548C>T (n.380-4548C>T)
c.266C>T (p.Ser89Phe)
c.*500C>T (n.*500C>T)
c.704C>T (p.Ser235Phe)
c.473C>T (p.Ser158Phe)
c.716C>T (p.Ser239Phe)
 ClinVar dbSNP
9g.99137989C>ACA466434210TGFBR1c.498C>A (p.Ser166=)
c.510C>A (p.Ser170=)
c.380-4547C>A (n.380-4547C>A)
c.267C>A (p.Ser89=)
c.*501C>A (n.*501C>A)
c.705C>A (p.Ser235=)
c.474C>A (p.Ser158=)
c.717C>A (p.Ser239=)
 dbSNP
9g.99137989C=CA1867255832TGFBR1c.498C= (p.Ser166=)
c.510C= (p.Ser170=)
c.380-4547C= (n.380-4547C=)
c.267C= (p.Ser89=)
c.*501C= (n.*501C=)
c.705C= (p.Ser235=)
c.474C= (p.Ser158=)
c.717C= (p.Ser239=)
9g.99137989C>GCA466434211TGFBR1c.498C>G (p.Ser166=)
c.510C>G (p.Ser170=)
c.380-4547C>G (n.380-4547C>G)
c.267C>G (p.Ser89=)
c.*501C>G (n.*501C>G)
c.705C>G (p.Ser235=)
c.474C>G (p.Ser158=)
c.717C>G (p.Ser239=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.99137989C>TCA466434212TGFBR1c.498C>T (p.Ser166=)
c.510C>T (p.Ser170=)
c.380-4547C>T (n.380-4547C>T)
c.267C>T (p.Ser89=)
c.*501C>T (n.*501C>T)
c.705C>T (p.Ser235=)
c.474C>T (p.Ser158=)
c.717C>T (p.Ser239=)
 dbSNP
9g.99137990T>ACA374229744TGFBR1c.499T>A (p.Ser167Thr)
c.511T>A (p.Ser171Thr)
c.380-4546T>A (n.380-4546T>A)
c.268T>A (p.Ser90Thr)
c.*502T>A (n.*502T>A)
c.706T>A (p.Ser236Thr)
c.475T>A (p.Ser159Thr)
c.718T>A (p.Ser240Thr)
 dbSNP
9g.99137990T>CCA374229746TGFBR1c.499T>C (p.Ser167Pro)
c.511T>C (p.Ser171Pro)
c.380-4546T>C (n.380-4546T>C)
c.268T>C (p.Ser90Pro)
c.*502T>C (n.*502T>C)
c.706T>C (p.Ser236Pro)
c.475T>C (p.Ser159Pro)
c.718T>C (p.Ser240Pro)
 ClinVar
9g.99137990T>GCA374229743TGFBR1c.499T>G (p.Ser167Ala)
c.511T>G (p.Ser171Ala)
c.380-4546T>G (n.380-4546T>G)
c.268T>G (p.Ser90Ala)
c.*502T>G (n.*502T>G)
c.706T>G (p.Ser236Ala)
c.475T>G (p.Ser159Ala)
c.718T>G (p.Ser240Ala)
 ClinVar dbSNP
9g.99137990T=CA1867255838TGFBR1c.499T= (p.Ser167=)
c.511T= (p.Ser171=)
c.380-4546T= (n.380-4546T=)
c.268T= (p.Ser90=)
c.*502T= (n.*502T=)
c.706T= (p.Ser236=)
c.475T= (p.Ser159=)
c.718T= (p.Ser240=)
9g.99137991C>ACA374229748TGFBR1c.500C>A (p.Ser167Tyr)
c.512C>A (p.Ser171Tyr)
c.380-4545C>A (n.380-4545C>A)
c.269C>A (p.Ser90Tyr)
c.*503C>A (n.*503C>A)
c.707C>A (p.Ser236Tyr)
c.476C>A (p.Ser159Tyr)
c.719C>A (p.Ser240Tyr)
 dbSNP
9g.99137991C=CA1867255846TGFBR1c.500C= (p.Ser167=)
c.512C= (p.Ser171=)
c.380-4545C= (n.380-4545C=)
c.269C= (p.Ser90=)
c.*503C= (n.*503C=)
c.707C= (p.Ser236=)
c.476C= (p.Ser159=)
c.719C= (p.Ser240=)
9g.99137991C>GCA374229749TGFBR1c.500C>G (p.Ser167Cys)
c.512C>G (p.Ser171Cys)
c.380-4545C>G (n.380-4545C>G)
c.269C>G (p.Ser90Cys)
c.*503C>G (n.*503C>G)
c.707C>G (p.Ser236Cys)
c.476C>G (p.Ser159Cys)
c.719C>G (p.Ser240Cys)
 dbSNP
9g.99137991C>TCA321749TGFBR1c.500C>T (p.Ser167Phe)
c.512C>T (p.Ser171Phe)
c.380-4545C>T (n.380-4545C>T)
c.269C>T (p.Ser90Phe)
c.*503C>T (n.*503C>T)
c.707C>T (p.Ser236Phe)
c.476C>T (p.Ser159Phe)
c.719C>T (p.Ser240Phe)
 ClinVar dbSNP
9g.99137992T>ACA466434213TGFBR1c.501T>A (p.Ser167=)
c.513T>A (p.Ser171=)
c.380-4544T>A (n.380-4544T>A)
c.270T>A (p.Ser90=)
c.*504T>A (n.*504T>A)
c.708T>A (p.Ser236=)
c.477T>A (p.Ser159=)
c.720T>A (p.Ser240=)
9g.99137992T>CCA466434214TGFBR1c.501T>C (p.Ser167=)
c.513T>C (p.Ser171=)
c.380-4544T>C (n.380-4544T>C)
c.270T>C (p.Ser90=)
c.*504T>C (n.*504T>C)
c.708T>C (p.Ser236=)
c.477T>C (p.Ser159=)
c.720T>C (p.Ser240=)
9g.99137992T>GCA466434215TGFBR1c.501T>G (p.Ser167=)
c.513T>G (p.Ser171=)
c.380-4544T>G (n.380-4544T>G)
c.270T>G (p.Ser90=)
c.*504T>G (n.*504T>G)
c.708T>G (p.Ser236=)
c.477T>G (p.Ser159=)
c.720T>G (p.Ser240=)
9g.99137993A=CA1867255850TGFBR1c.502A= (p.Arg168=)
c.514A= (p.Arg172=)
c.380-4543A= (n.380-4543A=)
c.271A= (p.Arg91=)
c.*505A= (n.*505A=)
c.709A= (p.Arg237=)
c.478A= (p.Arg160=)
c.721A= (p.Arg241=)
9g.99137993A>CCA466434216TGFBR1c.502A>C (p.Arg168=)
c.514A>C (p.Arg172=)
c.380-4543A>C (n.380-4543A>C)
c.271A>C (p.Arg91=)
c.*505A>C (n.*505A>C)
c.709A>C (p.Arg237=)
c.478A>C (p.Arg160=)
c.721A>C (p.Arg241=)
9g.99137993A>GCA323375TGFBR1c.502A>G (p.Arg168Gly)
c.514A>G (p.Arg172Gly)
c.380-4543A>G (n.380-4543A>G)
c.271A>G (p.Arg91Gly)
c.*505A>G (n.*505A>G)
c.709A>G (p.Arg237Gly)
c.478A>G (p.Arg160Gly)
c.721A>G (p.Arg241Gly)
 ClinVar dbSNP
9g.99137993A>TCA374229752TGFBR1c.502A>T (p.Arg168Ter)
c.514A>T (p.Arg172Ter)
c.380-4543A>T (n.380-4543A>T)
c.271A>T (p.Arg91Ter)
c.*505A>T (n.*505A>T)
c.709A>T (p.Arg237Ter)
c.478A>T (p.Arg160Ter)
c.721A>T (p.Arg241Ter)
 dbSNP

Number of alleles fetched