Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.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
9g.99137994G>ACA374229756TGFBR1c.503G>A (p.Arg168Lys)
c.515G>A (p.Arg172Lys)
c.380-4542G>A (n.380-4542G>A)
c.272G>A (p.Arg91Lys)
c.*506G>A (n.*506G>A)
c.710G>A (p.Arg237Lys)
c.479G>A (p.Arg160Lys)
c.722G>A (p.Arg241Lys)
 ClinVar dbSNP
9g.99137994G>CCA374229753TGFBR1c.503G>C (p.Arg168Thr)
c.515G>C (p.Arg172Thr)
c.380-4542G>C (n.380-4542G>C)
c.272G>C (p.Arg91Thr)
c.*506G>C (n.*506G>C)
c.710G>C (p.Arg237Thr)
c.479G>C (p.Arg160Thr)
c.722G>C (p.Arg241Thr)
 dbSNP
9g.99137994G=CA1867255857TGFBR1c.503G= (p.Arg168=)
c.515G= (p.Arg172=)
c.380-4542G= (n.380-4542G=)
c.272G= (p.Arg91=)
c.*506G= (n.*506G=)
c.710G= (p.Arg237=)
c.479G= (p.Arg160=)
c.722G= (p.Arg241=)
9g.99137994G>TCA374229755TGFBR1c.503G>T (p.Arg168Ile)
c.515G>T (p.Arg172Ile)
c.380-4542G>T (n.380-4542G>T)
c.272G>T (p.Arg91Ile)
c.*506G>T (n.*506G>T)
c.710G>T (p.Arg237Ile)
c.479G>T (p.Arg160Ile)
c.722G>T (p.Arg241Ile)
9g.99137995A>CCA374229757TGFBR1c.504A>C (p.Arg168Ser)
c.516A>C (p.Arg172Ser)
c.380-4541A>C (n.380-4541A>C)
c.273A>C (p.Arg91Ser)
c.*507A>C (n.*507A>C)
c.711A>C (p.Arg237Ser)
c.480A>C (p.Arg160Ser)
c.723A>C (p.Arg241Ser)
9g.99137995A>GCA466434217TGFBR1c.504A>G (p.Arg168=)
c.516A>G (p.Arg172=)
c.380-4541A>G (n.380-4541A>G)
c.273A>G (p.Arg91=)
c.*507A>G (n.*507A>G)
c.711A>G (p.Arg237=)
c.480A>G (p.Arg160=)
c.723A>G (p.Arg241=)
9g.99137995A>TCA374229758TGFBR1c.504A>T (p.Arg168Ser)
c.516A>T (p.Arg172Ser)
c.380-4541A>T (n.380-4541A>T)
c.273A>T (p.Arg91Ser)
c.*507A>T (n.*507A>T)
c.711A>T (p.Arg237Ser)
c.480A>T (p.Arg160Ser)
c.723A>T (p.Arg241Ser)
 dbSNP
9g.99137999_99138001delCA2580616266TGFBR1c.508_510del (p.Glu170del)
c.520_522del (p.Glu174del)
c.380-4537_380-4535del (n.380-4537_380-4535del)
c.277_279del (p.Glu93del)
c.*511_*513del (n.*511_*513del)
c.715_717del (p.Glu239del)
c.484_486del (p.Glu162del)
c.727_729del (p.Glu243del)
 ClinVar dbSNP
9g.99137996G>ACA374229760TGFBR1c.505G>A (p.Glu169Lys)
c.517G>A (p.Glu173Lys)
c.380-4540G>A (n.380-4540G>A)
c.274G>A (p.Glu92Lys)
c.*508G>A (n.*508G>A)
c.712G>A (p.Glu238Lys)
c.481G>A (p.Glu161Lys)
c.724G>A (p.Glu242Lys)
 dbSNP
9g.99137996G>CCA374229761TGFBR1c.505G>C (p.Glu169Gln)
c.517G>C (p.Glu173Gln)
c.380-4540G>C (n.380-4540G>C)
c.274G>C (p.Glu92Gln)
c.*508G>C (n.*508G>C)
c.712G>C (p.Glu238Gln)
c.481G>C (p.Glu161Gln)
c.724G>C (p.Glu242Gln)
 dbSNP
9g.99137996G>TCA374229762TGFBR1c.505G>T (p.Glu169Ter)
c.517G>T (p.Glu173Ter)
c.380-4540G>T (n.380-4540G>T)
c.274G>T (p.Glu92Ter)
c.*508G>T (n.*508G>T)
c.712G>T (p.Glu238Ter)
c.481G>T (p.Glu161Ter)
c.724G>T (p.Glu242Ter)
9g.99137997A>CCA374229766TGFBR1c.506A>C (p.Glu169Ala)
c.518A>C (p.Glu173Ala)
c.380-4539A>C (n.380-4539A>C)
c.275A>C (p.Glu92Ala)
c.*509A>C (n.*509A>C)
c.713A>C (p.Glu238Ala)
c.482A>C (p.Glu161Ala)
c.725A>C (p.Glu242Ala)
9g.99137997A>GCA374229763TGFBR1c.506A>G (p.Glu169Gly)
c.518A>G (p.Glu173Gly)
c.380-4539A>G (n.380-4539A>G)
c.275A>G (p.Glu92Gly)
c.*509A>G (n.*509A>G)
c.713A>G (p.Glu238Gly)
c.482A>G (p.Glu161Gly)
c.725A>G (p.Glu242Gly)
 dbSNP
9g.99137997A>TCA374229764TGFBR1c.506A>T (p.Glu169Val)
c.518A>T (p.Glu173Val)
c.380-4539A>T (n.380-4539A>T)
c.275A>T (p.Glu92Val)
c.*509A>T (n.*509A>T)
c.713A>T (p.Glu238Val)
c.482A>T (p.Glu161Val)
c.725A>T (p.Glu242Val)
 dbSNP
9g.99137998A=CA1867255861TGFBR1c.507A= (p.Glu169=)
c.519A= (p.Glu173=)
c.380-4538A= (n.380-4538A=)
c.276A= (p.Glu92=)
c.*510A= (n.*510A=)
c.714A= (p.Glu238=)
c.483A= (p.Glu161=)
c.726A= (p.Glu242=)
9g.99137998A>CCA374229768TGFBR1c.507A>C (p.Glu169Asp)
c.519A>C (p.Glu173Asp)
c.380-4538A>C (n.380-4538A>C)
c.276A>C (p.Glu92Asp)
c.*510A>C (n.*510A>C)
c.714A>C (p.Glu238Asp)
c.483A>C (p.Glu161Asp)
c.726A>C (p.Glu242Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.99137998A>GCA466434218TGFBR1c.507A>G (p.Glu169=)
c.519A>G (p.Glu173=)
c.380-4538A>G (n.380-4538A>G)
c.276A>G (p.Glu92=)
c.*510A>G (n.*510A>G)
c.714A>G (p.Glu238=)
c.483A>G (p.Glu161=)
c.726A>G (p.Glu242=)
9g.99137998A>TCA374229770TGFBR1c.507A>T (p.Glu169Asp)
c.519A>T (p.Glu173Asp)
c.380-4538A>T (n.380-4538A>T)
c.276A>T (p.Glu92Asp)
c.*510A>T (n.*510A>T)
c.714A>T (p.Glu238Asp)
c.483A>T (p.Glu161Asp)
c.726A>T (p.Glu242Asp)
 dbSNP
9g.99137999G>ACA374229771TGFBR1c.508G>A (p.Glu170Lys)
c.520G>A (p.Glu174Lys)
c.380-4537G>A (n.380-4537G>A)
c.277G>A (p.Glu93Lys)
c.*511G>A (n.*511G>A)
c.715G>A (p.Glu239Lys)
c.484G>A (p.Glu162Lys)
c.727G>A (p.Glu243Lys)
 ClinVar dbSNP
9g.99137999G>CCA374229772TGFBR1c.508G>C (p.Glu170Gln)
c.520G>C (p.Glu174Gln)
c.380-4537G>C (n.380-4537G>C)
c.277G>C (p.Glu93Gln)
c.*511G>C (n.*511G>C)
c.715G>C (p.Glu239Gln)
c.484G>C (p.Glu162Gln)
c.727G>C (p.Glu243Gln)
 dbSNP
9g.99137999G>TCA374229773TGFBR1c.508G>T (p.Glu170Ter)
c.520G>T (p.Glu174Ter)
c.380-4537G>T (n.380-4537G>T)
c.277G>T (p.Glu93Ter)
c.*511G>T (n.*511G>T)
c.715G>T (p.Glu239Ter)
c.484G>T (p.Glu162Ter)
c.727G>T (p.Glu243Ter)
 dbSNP
9g.99138000A>CCA374229776TGFBR1c.509A>C (p.Glu170Ala)
c.521A>C (p.Glu174Ala)
c.380-4536A>C (n.380-4536A>C)
c.278A>C (p.Glu93Ala)
c.*512A>C (n.*512A>C)
c.716A>C (p.Glu239Ala)
c.485A>C (p.Glu162Ala)
c.728A>C (p.Glu243Ala)
 dbSNP
9g.99138000A>GCA374229777TGFBR1c.509A>G (p.Glu170Gly)
c.521A>G (p.Glu174Gly)
c.380-4536A>G (n.380-4536A>G)
c.278A>G (p.Glu93Gly)
c.*512A>G (n.*512A>G)
c.716A>G (p.Glu239Gly)
c.485A>G (p.Glu162Gly)
c.728A>G (p.Glu243Gly)
 ClinVar dbSNP
9g.99138000A>TCA374229779TGFBR1c.509A>T (p.Glu170Val)
c.521A>T (p.Glu174Val)
c.380-4536A>T (n.380-4536A>T)
c.278A>T (p.Glu93Val)
c.*512A>T (n.*512A>T)
c.716A>T (p.Glu239Val)
c.485A>T (p.Glu162Val)
c.728A>T (p.Glu243Val)
 dbSNP
9g.99138001A>CCA374229780TGFBR1c.510A>C (p.Glu170Asp)
c.522A>C (p.Glu174Asp)
c.380-4535A>C (n.380-4535A>C)
c.279A>C (p.Glu93Asp)
c.*513A>C (n.*513A>C)
c.717A>C (p.Glu239Asp)
c.486A>C (p.Glu162Asp)
c.729A>C (p.Glu243Asp)
 dbSNP gnomAD v3 gnomAD v4
9g.99138001A>GCA466434219TGFBR1c.510A>G (p.Glu170=)
c.522A>G (p.Glu174=)
c.380-4535A>G (n.380-4535A>G)
c.279A>G (p.Glu93=)
c.*513A>G (n.*513A>G)
c.717A>G (p.Glu239=)
c.486A>G (p.Glu162=)
c.729A>G (p.Glu243=)
 dbSNP
9g.99138001A>TCA374229781TGFBR1c.510A>T (p.Glu170Asp)
c.522A>T (p.Glu174Asp)
c.380-4535A>T (n.380-4535A>T)
c.279A>T (p.Glu93Asp)
c.*513A>T (n.*513A>T)
c.717A>T (p.Glu239Asp)
c.486A>T (p.Glu162Asp)
c.729A>T (p.Glu243Asp)
 dbSNP
9g.99138002C>ACA374229783TGFBR1c.511C>A (p.Arg171Ser)
c.523C>A (p.Arg175Ser)
c.380-4534C>A (n.380-4534C>A)
c.280C>A (p.Arg94Ser)
c.*514C>A (n.*514C>A)
c.718C>A (p.Arg240Ser)
c.487C>A (p.Arg163Ser)
c.730C>A (p.Arg244Ser)
9g.99138002C=CA1867255870TGFBR1c.511C= (p.Arg171=)
c.523C= (p.Arg175=)
c.380-4534C= (n.380-4534C=)
c.280C= (p.Arg94=)
c.*514C= (n.*514C=)
c.718C= (p.Arg240=)
c.487C= (p.Arg163=)
c.730C= (p.Arg244=)
9g.99138002C>GCA374229785TGFBR1c.511C>G (p.Arg171Gly)
c.523C>G (p.Arg175Gly)
c.380-4534C>G (n.380-4534C>G)
c.280C>G (p.Arg94Gly)
c.*514C>G (n.*514C>G)
c.718C>G (p.Arg240Gly)
c.487C>G (p.Arg163Gly)
c.730C>G (p.Arg244Gly)
 dbSNP
9g.99138002C>TCA042764TGFBR1c.511C>T (p.Arg171Cys)
c.523C>T (p.Arg175Cys)
c.380-4534C>T (n.380-4534C>T)
c.280C>T (p.Arg94Cys)
c.*514C>T (n.*514C>T)
c.718C>T (p.Arg240Cys)
c.487C>T (p.Arg163Cys)
c.730C>T (p.Arg244Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.99138003G>ACA374229787TGFBR1c.512G>A (p.Arg171His)
c.524G>A (p.Arg175His)
c.380-4533G>A (n.380-4533G>A)
c.281G>A (p.Arg94His)
c.*515G>A (n.*515G>A)
c.719G>A (p.Arg240His)
c.488G>A (p.Arg163His)
c.731G>A (p.Arg244His)
 dbSNP
9g.99138003G>CCA374229789TGFBR1c.512G>C (p.Arg171Pro)
c.524G>C (p.Arg175Pro)
c.380-4533G>C (n.380-4533G>C)
c.281G>C (p.Arg94Pro)
c.*515G>C (n.*515G>C)
c.719G>C (p.Arg240Pro)
c.488G>C (p.Arg163Pro)
c.731G>C (p.Arg244Pro)
 dbSNP
9g.99138003G=CA1867255875TGFBR1c.512G= (p.Arg171=)
c.524G= (p.Arg175=)
c.380-4533G= (n.380-4533G=)
c.281G= (p.Arg94=)
c.*515G= (n.*515G=)
c.719G= (p.Arg240=)
c.488G= (p.Arg163=)
c.731G= (p.Arg244=)
9g.99138003G>TCA374229788TGFBR1c.512G>T (p.Arg171Leu)
c.524G>T (p.Arg175Leu)
c.380-4533G>T (n.380-4533G>T)
c.281G>T (p.Arg94Leu)
c.*515G>T (n.*515G>T)
c.719G>T (p.Arg240Leu)
c.488G>T (p.Arg163Leu)
c.731G>T (p.Arg244Leu)
9g.99138004T>ACA466434220TGFBR1c.513T>A (p.Arg171=)
c.525T>A (p.Arg175=)
c.380-4532T>A (n.380-4532T>A)
c.282T>A (p.Arg94=)
c.*516T>A (n.*516T>A)
c.720T>A (p.Arg240=)
c.489T>A (p.Arg163=)
c.732T>A (p.Arg244=)
 ClinVar dbSNP
9g.99138004T>CCA042783TGFBR1c.513T>C (p.Arg171=)
c.525T>C (p.Arg175=)
c.380-4532T>C (n.380-4532T>C)
c.282T>C (p.Arg94=)
c.*516T>C (n.*516T>C)
c.720T>C (p.Arg240=)
c.489T>C (p.Arg163=)
c.732T>C (p.Arg244=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.99138004T>GCA466434221TGFBR1c.513T>G (p.Arg171=)
c.525T>G (p.Arg175=)
c.380-4532T>G (n.380-4532T>G)
c.282T>G (p.Arg94=)
c.*516T>G (n.*516T>G)
c.720T>G (p.Arg240=)
c.489T>G (p.Arg163=)
c.732T>G (p.Arg244=)
 dbSNP
9g.99138004T=CA1867255880TGFBR1c.513T= (p.Arg171=)
c.525T= (p.Arg175=)
c.380-4532T= (n.380-4532T=)
c.282T= (p.Arg94=)
c.*516T= (n.*516T=)
c.720T= (p.Arg240=)
c.489T= (p.Arg163=)
c.732T= (p.Arg244=)
9g.99138005T>ACA374229792TGFBR1c.514T>A (p.Ser172Thr)
c.526T>A (p.Ser176Thr)
c.380-4531T>A (n.380-4531T>A)
c.283T>A (p.Ser95Thr)
c.*517T>A (n.*517T>A)
c.721T>A (p.Ser241Thr)
c.490T>A (p.Ser164Thr)
c.733T>A (p.Ser245Thr)
 dbSNP
9g.99138005T>CCA374229793TGFBR1c.514T>C (p.Ser172Pro)
c.526T>C (p.Ser176Pro)
c.380-4531T>C (n.380-4531T>C)
c.283T>C (p.Ser95Pro)
c.*517T>C (n.*517T>C)
c.721T>C (p.Ser241Pro)
c.490T>C (p.Ser164Pro)
c.733T>C (p.Ser245Pro)
 dbSNP
9g.99138005T>GCA374229794TGFBR1c.514T>G (p.Ser172Ala)
c.526T>G (p.Ser176Ala)
c.380-4531T>G (n.380-4531T>G)
c.283T>G (p.Ser95Ala)
c.*517T>G (n.*517T>G)
c.721T>G (p.Ser241Ala)
c.490T>G (p.Ser164Ala)
c.733T>G (p.Ser245Ala)
 dbSNP
9g.99138006delCA2690965850TGFBR1c.515del (p.Ser172CysfsTer12)
c.527del (p.Ser176CysfsTer12)
c.380-4530del (n.380-4530del)
c.284del (p.Ser95CysfsTer12)
c.*518del (n.*518del)
c.722del (p.Ser241CysfsTer12)
c.491del (p.Ser164CysfsTer12)
c.734del (p.Ser245CysfsTer12)
 gnomAD v4
9g.99138006C>ACA374229796TGFBR1c.515C>A (p.Ser172Ter)
c.527C>A (p.Ser176Ter)
c.380-4530C>A (n.380-4530C>A)
c.284C>A (p.Ser95Ter)
c.*518C>A (n.*518C>A)
c.722C>A (p.Ser241Ter)
c.491C>A (p.Ser164Ter)
c.734C>A (p.Ser245Ter)
 dbSNP gnomAD v2 gnomAD v4
9g.99138006C=CA1867255886TGFBR1c.515C= (p.Ser172=)
c.527C= (p.Ser176=)
c.380-4530C= (n.380-4530C=)
c.284C= (p.Ser95=)
c.*518C= (n.*518C=)
c.722C= (p.Ser241=)
c.491C= (p.Ser164=)
c.734C= (p.Ser245=)
9g.99138006C>GCA374229798TGFBR1c.515C>G (p.Ser172Trp)
c.527C>G (p.Ser176Trp)
c.380-4530C>G (n.380-4530C>G)
c.284C>G (p.Ser95Trp)
c.*518C>G (n.*518C>G)
c.722C>G (p.Ser241Trp)
c.491C>G (p.Ser164Trp)
c.734C>G (p.Ser245Trp)
9g.99138006C>TCA008855TGFBR1c.515C>T (p.Ser172Leu)
c.527C>T (p.Ser176Leu)
c.380-4530C>T (n.380-4530C>T)
c.284C>T (p.Ser95Leu)
c.*518C>T (n.*518C>T)
c.722C>T (p.Ser241Leu)
c.491C>T (p.Ser164Leu)
c.734C>T (p.Ser245Leu)
 ClinVar dbSNP gnomAD v4 COSMIC
9g.99138007G>ACA16605937TGFBR1c.516G>A (p.Ser172=)
c.528G>A (p.Ser176=)
c.380-4529G>A (n.380-4529G>A)
c.285G>A (p.Ser95=)
c.*519G>A (n.*519G>A)
c.723G>A (p.Ser241=)
c.492G>A (p.Ser164=)
c.735G>A (p.Ser245=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.99138007G>CCA466434223TGFBR1c.516G>C (p.Ser172=)
c.528G>C (p.Ser176=)
c.380-4529G>C (n.380-4529G>C)
c.285G>C (p.Ser95=)
c.*519G>C (n.*519G>C)
c.723G>C (p.Ser241=)
c.492G>C (p.Ser164=)
c.735G>C (p.Ser245=)
 ClinVar dbSNP
9g.99138007G=CA1867255892TGFBR1c.516G= (p.Ser172=)
c.528G= (p.Ser176=)
c.380-4529G= (n.380-4529G=)
c.285G= (p.Ser95=)
c.*519G= (n.*519G=)
c.723G= (p.Ser241=)
c.492G= (p.Ser164=)
c.735G= (p.Ser245=)
9g.99138007G>TCA466434222TGFBR1c.516G>T (p.Ser172=)
c.528G>T (p.Ser176=)
c.380-4529G>T (n.380-4529G>T)
c.285G>T (p.Ser95=)
c.*519G>T (n.*519G>T)
c.723G>T (p.Ser241=)
c.492G>T (p.Ser164=)
c.735G>T (p.Ser245=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
9g.99138008T>ACA374229800TGFBR1c.517T>A (p.Trp173Arg)
c.529T>A (p.Trp177Arg)
c.380-4528T>A (n.380-4528T>A)
c.286T>A (p.Trp96Arg)
c.*520T>A (n.*520T>A)
c.724T>A (p.Trp242Arg)
c.493T>A (p.Trp165Arg)
c.736T>A (p.Trp246Arg)
9g.99138008T>CCA324960TGFBR1c.517T>C (p.Trp173Arg)
c.529T>C (p.Trp177Arg)
c.380-4528T>C (n.380-4528T>C)
c.286T>C (p.Trp96Arg)
c.*520T>C (n.*520T>C)
c.724T>C (p.Trp242Arg)
c.493T>C (p.Trp165Arg)
c.736T>C (p.Trp246Arg)
 ClinVar dbSNP
9g.99138008T>GCA374229803TGFBR1c.517T>G (p.Trp173Gly)
c.529T>G (p.Trp177Gly)
c.380-4528T>G (n.380-4528T>G)
c.286T>G (p.Trp96Gly)
c.*520T>G (n.*520T>G)
c.724T>G (p.Trp242Gly)
c.493T>G (p.Trp165Gly)
c.736T>G (p.Trp246Gly)
9g.99138008T=CA1867255900TGFBR1c.517T= (p.Trp173=)
c.529T= (p.Trp177=)
c.380-4528T= (n.380-4528T=)
c.286T= (p.Trp96=)
c.*520T= (n.*520T=)
c.724T= (p.Trp242=)
c.493T= (p.Trp165=)
c.736T= (p.Trp246=)
9g.99138009G>ACA374229807TGFBR1c.518G>A (p.Trp173Ter)
c.530G>A (p.Trp177Ter)
c.380-4527G>A (n.380-4527G>A)
c.287G>A (p.Trp96Ter)
c.*521G>A (n.*521G>A)
c.725G>A (p.Trp242Ter)
c.494G>A (p.Trp165Ter)
c.737G>A (p.Trp246Ter)
 dbSNP
9g.99138009G>CCA374229808TGFBR1c.518G>C (p.Trp173Ser)
c.530G>C (p.Trp177Ser)
c.380-4527G>C (n.380-4527G>C)
c.287G>C (p.Trp96Ser)
c.*521G>C (n.*521G>C)
c.725G>C (p.Trp242Ser)
c.494G>C (p.Trp165Ser)
c.737G>C (p.Trp246Ser)
 ClinVar dbSNP
9g.99138009G=CA1867255905TGFBR1c.518G= (p.Trp173=)
c.530G= (p.Trp177=)
c.380-4527G= (n.380-4527G=)
c.287G= (p.Trp96=)
c.*521G= (n.*521G=)
c.725G= (p.Trp242=)
c.494G= (p.Trp165=)
c.737G= (p.Trp246=)
9g.99138009G>TCA374229810TGFBR1c.518G>T (p.Trp173Leu)
c.530G>T (p.Trp177Leu)
c.380-4527G>T (n.380-4527G>T)
c.287G>T (p.Trp96Leu)
c.*521G>T (n.*521G>T)
c.725G>T (p.Trp242Leu)
c.494G>T (p.Trp165Leu)
c.737G>T (p.Trp246Leu)
 ClinVar dbSNP
9g.99138010G>ACA374229814TGFBR1c.519G>A (p.Trp173Ter)
c.531G>A (p.Trp177Ter)
c.380-4526G>A (n.380-4526G>A)
c.288G>A (p.Trp96Ter)
c.*522G>A (n.*522G>A)
c.726G>A (p.Trp242Ter)
c.495G>A (p.Trp165Ter)
c.738G>A (p.Trp246Ter)
 dbSNP
9g.99138010G>CCA374229818TGFBR1c.519G>C (p.Trp173Cys)
c.531G>C (p.Trp177Cys)
c.380-4526G>C (n.380-4526G>C)
c.288G>C (p.Trp96Cys)
c.*522G>C (n.*522G>C)
c.726G>C (p.Trp242Cys)
c.495G>C (p.Trp165Cys)
c.738G>C (p.Trp246Cys)
 dbSNP
9g.99138010G>TCA374229815TGFBR1c.519G>T (p.Trp173Cys)
c.531G>T (p.Trp177Cys)
c.380-4526G>T (n.380-4526G>T)
c.288G>T (p.Trp96Cys)
c.*522G>T (n.*522G>T)
c.726G>T (p.Trp242Cys)
c.495G>T (p.Trp165Cys)
c.738G>T (p.Trp246Cys)
 dbSNP
9g.99138011T>ACA374229820TGFBR1c.520T>A (p.Phe174Ile)
c.532T>A (p.Phe178Ile)
c.380-4525T>A (n.380-4525T>A)
c.289T>A (p.Phe97Ile)
c.*523T>A (n.*523T>A)
c.727T>A (p.Phe243Ile)
c.496T>A (p.Phe166Ile)
c.739T>A (p.Phe247Ile)
 dbSNP
9g.99138011T>CCA374229821TGFBR1c.520T>C (p.Phe174Leu)
c.532T>C (p.Phe178Leu)
c.380-4525T>C (n.380-4525T>C)
c.289T>C (p.Phe97Leu)
c.*523T>C (n.*523T>C)
c.727T>C (p.Phe243Leu)
c.496T>C (p.Phe166Leu)
c.739T>C (p.Phe247Leu)
 dbSNP
9g.99138011T>GCA374229823TGFBR1c.520T>G (p.Phe174Val)
c.532T>G (p.Phe178Val)
c.380-4525T>G (n.380-4525T>G)
c.289T>G (p.Phe97Val)
c.*523T>G (n.*523T>G)
c.727T>G (p.Phe243Val)
c.496T>G (p.Phe166Val)
c.739T>G (p.Phe247Val)
9g.99138012T>ACA374229826TGFBR1c.521T>A (p.Phe174Tyr)
c.533T>A (p.Phe178Tyr)
c.380-4524T>A (n.380-4524T>A)
c.290T>A (p.Phe97Tyr)
c.*524T>A (n.*524T>A)
c.728T>A (p.Phe243Tyr)
c.497T>A (p.Phe166Tyr)
c.740T>A (p.Phe247Tyr)
 dbSNP
9g.99138012T>CCA374229829TGFBR1c.521T>C (p.Phe174Ser)
c.533T>C (p.Phe178Ser)
c.380-4524T>C (n.380-4524T>C)
c.290T>C (p.Phe97Ser)
c.*524T>C (n.*524T>C)
c.728T>C (p.Phe243Ser)
c.497T>C (p.Phe166Ser)
c.740T>C (p.Phe247Ser)
9g.99138012T>GCA374229831TGFBR1c.521T>G (p.Phe174Cys)
c.533T>G (p.Phe178Cys)
c.380-4524T>G (n.380-4524T>G)
c.290T>G (p.Phe97Cys)
c.*524T>G (n.*524T>G)
c.728T>G (p.Phe243Cys)
c.497T>G (p.Phe166Cys)
c.740T>G (p.Phe247Cys)
 dbSNP
9g.99138013C>ACA374229833TGFBR1c.522C>A (p.Phe174Leu)
c.534C>A (p.Phe178Leu)
c.380-4523C>A (n.380-4523C>A)
c.291C>A (p.Phe97Leu)
c.*525C>A (n.*525C>A)
c.729C>A (p.Phe243Leu)
c.498C>A (p.Phe166Leu)
c.741C>A (p.Phe247Leu)
 dbSNP
9g.99138013C>GCA374229836TGFBR1c.522C>G (p.Phe174Leu)
c.534C>G (p.Phe178Leu)
c.380-4523C>G (n.380-4523C>G)
c.291C>G (p.Phe97Leu)
c.*525C>G (n.*525C>G)
c.729C>G (p.Phe243Leu)
c.498C>G (p.Phe166Leu)
c.741C>G (p.Phe247Leu)
 dbSNP
9g.99138013C>TCA466434224TGFBR1c.522C>T (p.Phe174=)
c.534C>T (p.Phe178=)
c.380-4523C>T (n.380-4523C>T)
c.291C>T (p.Phe97=)
c.*525C>T (n.*525C>T)
c.729C>T (p.Phe243=)
c.498C>T (p.Phe166=)
c.741C>T (p.Phe247=)
 dbSNP
9g.99138014C>ACA374229838TGFBR1c.523C>A (p.Arg175Ser)
c.535C>A (p.Arg179Ser)
c.380-4522C>A (n.380-4522C>A)
c.292C>A (p.Arg98Ser)
c.*526C>A (n.*526C>A)
c.730C>A (p.Arg244Ser)
c.499C>A (p.Arg167Ser)
c.742C>A (p.Arg248Ser)
 dbSNP
9g.99138014C>GCA374229841TGFBR1c.523C>G (p.Arg175Gly)
c.535C>G (p.Arg179Gly)
c.380-4522C>G (n.380-4522C>G)
c.292C>G (p.Arg98Gly)
c.*526C>G (n.*526C>G)
c.730C>G (p.Arg244Gly)
c.499C>G (p.Arg167Gly)
c.742C>G (p.Arg248Gly)
 ClinVar dbSNP
9g.99138014C>TCA374229843TGFBR1c.523C>T (p.Arg175Cys)
c.535C>T (p.Arg179Cys)
c.380-4522C>T (n.380-4522C>T)
c.292C>T (p.Arg98Cys)
c.*526C>T (n.*526C>T)
c.730C>T (p.Arg244Cys)
c.499C>T (p.Arg167Cys)
c.742C>T (p.Arg248Cys)
 ClinVar dbSNP
9g.99138015G>ACA374229852TGFBR1c.524G>A (p.Arg175His)
c.536G>A (p.Arg179His)
c.380-4521G>A (n.380-4521G>A)
c.293G>A (p.Arg98His)
c.*527G>A (n.*527G>A)
c.731G>A (p.Arg244His)
c.500G>A (p.Arg167His)
c.743G>A (p.Arg248His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.99138015G>CCA374229853TGFBR1c.524G>C (p.Arg175Pro)
c.536G>C (p.Arg179Pro)
c.380-4521G>C (n.380-4521G>C)
c.293G>C (p.Arg98Pro)
c.*527G>C (n.*527G>C)
c.731G>C (p.Arg244Pro)
c.500G>C (p.Arg167Pro)
c.743G>C (p.Arg248Pro)
 ClinVar dbSNP
9g.99138015G=CA1867255908TGFBR1c.524G= (p.Arg175=)
c.536G= (p.Arg179=)
c.380-4521G= (n.380-4521G=)
c.293G= (p.Arg98=)
c.*527G= (n.*527G=)
c.731G= (p.Arg244=)
c.500G= (p.Arg167=)
c.743G= (p.Arg248=)
9g.99138015G>TCA374229846TGFBR1c.524G>T (p.Arg175Leu)
c.536G>T (p.Arg179Leu)
c.380-4521G>T (n.380-4521G>T)
c.293G>T (p.Arg98Leu)
c.*527G>T (n.*527G>T)
c.731G>T (p.Arg244Leu)
c.500G>T (p.Arg167Leu)
c.743G>T (p.Arg248Leu)
 gnomAD v4
9g.99138016T>ACA466434227TGFBR1c.525T>A (p.Arg175=)
c.537T>A (p.Arg179=)
c.380-4520T>A (n.380-4520T>A)
c.294T>A (p.Arg98=)
c.*528T>A (n.*528T>A)
c.732T>A (p.Arg244=)
c.501T>A (p.Arg167=)
c.744T>A (p.Arg248=)
 dbSNP
9g.99138016T>CCA466434226TGFBR1c.525T>C (p.Arg175=)
c.537T>C (p.Arg179=)
c.380-4520T>C (n.380-4520T>C)
c.294T>C (p.Arg98=)
c.*528T>C (n.*528T>C)
c.732T>C (p.Arg244=)
c.501T>C (p.Arg167=)
c.744T>C (p.Arg248=)
9g.99138016T>GCA466434225TGFBR1c.525T>G (p.Arg175=)
c.537T>G (p.Arg179=)
c.380-4520T>G (n.380-4520T>G)
c.294T>G (p.Arg98=)
c.*528T>G (n.*528T>G)
c.732T>G (p.Arg244=)
c.501T>G (p.Arg167=)
c.744T>G (p.Arg248=)
 dbSNP
9g.99138017G>ACA16605589TGFBR1c.526G>A (p.Glu176Lys)
c.538G>A (p.Glu180Lys)
c.380-4519G>A (n.380-4519G>A)
c.295G>A (p.Glu99Lys)
c.*529G>A (n.*529G>A)
c.733G>A (p.Glu245Lys)
c.502G>A (p.Glu168Lys)
c.745G>A (p.Glu249Lys)
 ClinVar dbSNP COSMIC
9g.99138017G>CCA374229854TGFBR1c.526G>C (p.Glu176Gln)
c.538G>C (p.Glu180Gln)
c.380-4519G>C (n.380-4519G>C)
c.295G>C (p.Glu99Gln)
c.*529G>C (n.*529G>C)
c.733G>C (p.Glu245Gln)
c.502G>C (p.Glu168Gln)
c.745G>C (p.Glu249Gln)
 dbSNP
9g.99138017G=CA1867255915TGFBR1c.526G= (p.Glu176=)
c.538G= (p.Glu180=)
c.380-4519G= (n.380-4519G=)
c.295G= (p.Glu99=)
c.*529G= (n.*529G=)
c.733G= (p.Glu245=)
c.502G= (p.Glu168=)
c.745G= (p.Glu249=)
9g.99138017G>TCA374229855TGFBR1c.526G>T (p.Glu176Ter)
c.538G>T (p.Glu180Ter)
c.380-4519G>T (n.380-4519G>T)
c.295G>T (p.Glu99Ter)
c.*529G>T (n.*529G>T)
c.733G>T (p.Glu245Ter)
c.502G>T (p.Glu168Ter)
c.745G>T (p.Glu249Ter)
 ClinVar dbSNP
9g.99138018A=CA1867255922TGFBR1c.527A= (p.Glu176=)
c.539A= (p.Glu180=)
c.380-4518A= (n.380-4518A=)
c.296A= (p.Glu99=)
c.*530A= (n.*530A=)
c.734A= (p.Glu245=)
c.503A= (p.Glu168=)
c.746A= (p.Glu249=)
9g.99138018A>CCA374229857TGFBR1c.527A>C (p.Glu176Ala)
c.539A>C (p.Glu180Ala)
c.380-4518A>C (n.380-4518A>C)
c.296A>C (p.Glu99Ala)
c.*530A>C (n.*530A>C)
c.734A>C (p.Glu245Ala)
c.503A>C (p.Glu168Ala)
c.746A>C (p.Glu249Ala)
 ClinVar dbSNP
9g.99138018A>GCA374229860TGFBR1c.527A>G (p.Glu176Gly)
c.539A>G (p.Glu180Gly)
c.380-4518A>G (n.380-4518A>G)
c.296A>G (p.Glu99Gly)
c.*530A>G (n.*530A>G)
c.734A>G (p.Glu245Gly)
c.503A>G (p.Glu168Gly)
c.746A>G (p.Glu249Gly)
 dbSNP
9g.99138018A>TCA374229863TGFBR1c.527A>T (p.Glu176Val)
c.539A>T (p.Glu180Val)
c.380-4518A>T (n.380-4518A>T)
c.296A>T (p.Glu99Val)
c.*530A>T (n.*530A>T)
c.734A>T (p.Glu245Val)
c.503A>T (p.Glu168Val)
c.746A>T (p.Glu249Val)
 dbSNP
9g.99138019G>ACA466434228TGFBR1c.528G>A (p.Glu176=)
c.540G>A (p.Glu180=)
c.380-4517G>A (n.380-4517G>A)
c.297G>A (p.Glu99=)
c.*531G>A (n.*531G>A)
c.735G>A (p.Glu245=)
c.504G>A (p.Glu168=)
c.747G>A (p.Glu249=)
 ClinVar dbSNP
9g.99138019G>CCA374229866TGFBR1c.528G>C (p.Glu176Asp)
c.540G>C (p.Glu180Asp)
c.380-4517G>C (n.380-4517G>C)
c.297G>C (p.Glu99Asp)
c.*531G>C (n.*531G>C)
c.735G>C (p.Glu245Asp)
c.504G>C (p.Glu168Asp)
c.747G>C (p.Glu249Asp)
 ClinVar dbSNP
9g.99138019G=CA1867255930TGFBR1c.528G= (p.Glu176=)
c.540G= (p.Glu180=)
c.380-4517G= (n.380-4517G=)
c.297G= (p.Glu99=)
c.*531G= (n.*531G=)
c.735G= (p.Glu245=)
c.504G= (p.Glu168=)
c.747G= (p.Glu249=)
9g.99138019G>TCA374229865TGFBR1c.528G>T (p.Glu176Asp)
c.540G>T (p.Glu180Asp)
c.380-4517G>T (n.380-4517G>T)
c.297G>T (p.Glu99Asp)
c.*531G>T (n.*531G>T)
c.735G>T (p.Glu245Asp)
c.504G>T (p.Glu168Asp)
c.747G>T (p.Glu249Asp)
 dbSNP
9g.99138020G>ACA374229868TGFBR1c.529G>A (p.Ala177Thr)
c.541G>A (p.Ala181Thr)
c.380-4516G>A (n.380-4516G>A)
c.298G>A (p.Ala100Thr)
c.*532G>A (n.*532G>A)
c.736G>A (p.Ala246Thr)
c.505G>A (p.Ala169Thr)
c.748G>A (p.Ala250Thr)
 dbSNP
9g.99138020G>CCA374229871TGFBR1c.529G>C (p.Ala177Pro)
c.541G>C (p.Ala181Pro)
c.380-4516G>C (n.380-4516G>C)
c.298G>C (p.Ala100Pro)
c.*532G>C (n.*532G>C)
c.736G>C (p.Ala246Pro)
c.505G>C (p.Ala169Pro)
c.748G>C (p.Ala250Pro)
 dbSNP
9g.99138020G>TCA374229873TGFBR1c.529G>T (p.Ala177Ser)
c.541G>T (p.Ala181Ser)
c.380-4516G>T (n.380-4516G>T)
c.298G>T (p.Ala100Ser)
c.*532G>T (n.*532G>T)
c.736G>T (p.Ala246Ser)
c.505G>T (p.Ala169Ser)
c.748G>T (p.Ala250Ser)
9g.99138021C>ACA374229875TGFBR1c.530C>A (p.Ala177Glu)
c.542C>A (p.Ala181Glu)
c.380-4515C>A (n.380-4515C>A)
c.299C>A (p.Ala100Glu)
c.*533C>A (n.*533C>A)
c.737C>A (p.Ala246Glu)
c.506C>A (p.Ala169Glu)
c.749C>A (p.Ala250Glu)
 dbSNP
9g.99138021C=CA1867255934TGFBR1c.530C= (p.Ala177=)
c.542C= (p.Ala181=)
c.380-4515C= (n.380-4515C=)
c.299C= (p.Ala100=)
c.*533C= (n.*533C=)
c.737C= (p.Ala246=)
c.506C= (p.Ala169=)
c.749C= (p.Ala250=)
9g.99138021C>GCA374229877TGFBR1c.530C>G (p.Ala177Gly)
c.542C>G (p.Ala181Gly)
c.380-4515C>G (n.380-4515C>G)
c.299C>G (p.Ala100Gly)
c.*533C>G (n.*533C>G)
c.737C>G (p.Ala246Gly)
c.506C>G (p.Ala169Gly)
c.749C>G (p.Ala250Gly)
 dbSNP
9g.99138021C>TCA374229879TGFBR1c.530C>T (p.Ala177Val)
c.542C>T (p.Ala181Val)
c.380-4515C>T (n.380-4515C>T)
c.299C>T (p.Ala100Val)
c.*533C>T (n.*533C>T)
c.737C>T (p.Ala246Val)
c.506C>T (p.Ala169Val)
c.749C>T (p.Ala250Val)
 dbSNP gnomAD v4
9g.99138022A>CCA466434229TGFBR1c.531A>C (p.Ala177=)
c.543A>C (p.Ala181=)
c.380-4514A>C (n.380-4514A>C)
c.300A>C (p.Ala100=)
c.*534A>C (n.*534A>C)
c.738A>C (p.Ala246=)
c.507A>C (p.Ala169=)
c.750A>C (p.Ala250=)
9g.99138022A>GCA466434230TGFBR1c.531A>G (p.Ala177=)
c.543A>G (p.Ala181=)
c.380-4514A>G (n.380-4514A>G)
c.300A>G (p.Ala100=)
c.*534A>G (n.*534A>G)
c.738A>G (p.Ala246=)
c.507A>G (p.Ala169=)
c.750A>G (p.Ala250=)
9g.99138022A>TCA466434231TGFBR1c.531A>T (p.Ala177=)
c.543A>T (p.Ala181=)
c.380-4514A>T (n.380-4514A>T)
c.300A>T (p.Ala100=)
c.*534A>T (n.*534A>T)
c.738A>T (p.Ala246=)
c.507A>T (p.Ala169=)
c.750A>T (p.Ala250=)
 dbSNP
9g.99138023G>ACA374229887TGFBR1c.532G>A (p.Glu178Lys)
c.544G>A (p.Glu182Lys)
c.380-4513G>A (n.380-4513G>A)
c.301G>A (p.Glu101Lys)
c.*535G>A (n.*535G>A)
c.739G>A (p.Glu247Lys)
c.508G>A (p.Glu170Lys)
c.751G>A (p.Glu251Lys)
 dbSNP
9g.99138023G>CCA374229881TGFBR1c.532G>C (p.Glu178Gln)
c.544G>C (p.Glu182Gln)
c.380-4513G>C (n.380-4513G>C)
c.301G>C (p.Glu101Gln)
c.*535G>C (n.*535G>C)
c.739G>C (p.Glu247Gln)
c.508G>C (p.Glu170Gln)
c.751G>C (p.Glu251Gln)
 dbSNP
9g.99138023G>TCA374229884TGFBR1c.532G>T (p.Glu178Ter)
c.544G>T (p.Glu182Ter)
c.380-4513G>T (n.380-4513G>T)
c.301G>T (p.Glu101Ter)
c.*535G>T (n.*535G>T)
c.739G>T (p.Glu247Ter)
c.508G>T (p.Glu170Ter)
c.751G>T (p.Glu251Ter)
9g.99138024A>CCA374229890TGFBR1c.533A>C (p.Glu178Ala)
c.545A>C (p.Glu182Ala)
c.380-4512A>C (n.380-4512A>C)
c.302A>C (p.Glu101Ala)
c.*536A>C (n.*536A>C)
c.740A>C (p.Glu247Ala)
c.509A>C (p.Glu170Ala)
c.752A>C (p.Glu251Ala)
9g.99138024A>GCA374229892TGFBR1c.533A>G (p.Glu178Gly)
c.545A>G (p.Glu182Gly)
c.380-4512A>G (n.380-4512A>G)
c.302A>G (p.Glu101Gly)
c.*536A>G (n.*536A>G)
c.740A>G (p.Glu247Gly)
c.509A>G (p.Glu170Gly)
c.752A>G (p.Glu251Gly)
 dbSNP
9g.99138024A>TCA374229894TGFBR1c.533A>T (p.Glu178Val)
c.545A>T (p.Glu182Val)
c.380-4512A>T (n.380-4512A>T)
c.302A>T (p.Glu101Val)
c.*536A>T (n.*536A>T)
c.740A>T (p.Glu247Val)
c.509A>T (p.Glu170Val)
c.752A>T (p.Glu251Val)
 dbSNP
9g.99138025G>ACA042798TGFBR1c.534G>A (p.Glu178=)
c.546G>A (p.Glu182=)
c.380-4511G>A (n.380-4511G>A)
c.303G>A (p.Glu101=)
c.*537G>A (n.*537G>A)
c.741G>A (p.Glu247=)
c.510G>A (p.Glu170=)
c.753G>A (p.Glu251=)
 ClinVar dbSNP ExAC gnomAD v4
9g.99138025G>CCA374229898TGFBR1c.534G>C (p.Glu178Asp)
c.546G>C (p.Glu182Asp)
c.380-4511G>C (n.380-4511G>C)
c.303G>C (p.Glu101Asp)
c.*537G>C (n.*537G>C)
c.741G>C (p.Glu247Asp)
c.510G>C (p.Glu170Asp)
c.753G>C (p.Glu251Asp)
 dbSNP
9g.99138025G=CA1867255940TGFBR1c.534G= (p.Glu178=)
c.546G= (p.Glu182=)
c.380-4511G= (n.380-4511G=)
c.303G= (p.Glu101=)
c.*537G= (n.*537G=)
c.741G= (p.Glu247=)
c.510G= (p.Glu170=)
c.753G= (p.Glu251=)
9g.99138025G>TCA374229899TGFBR1c.534G>T (p.Glu178Asp)
c.546G>T (p.Glu182Asp)
c.380-4511G>T (n.380-4511G>T)
c.303G>T (p.Glu101Asp)
c.*537G>T (n.*537G>T)
c.741G>T (p.Glu247Asp)
c.510G>T (p.Glu170Asp)
c.753G>T (p.Glu251Asp)
9g.99138026A>CCA374229901TGFBR1c.535A>C (p.Ile179Leu)
c.547A>C (p.Ile183Leu)
c.380-4510A>C (n.380-4510A>C)
c.304A>C (p.Ile102Leu)
c.*538A>C (n.*538A>C)
c.742A>C (p.Ile248Leu)
c.511A>C (p.Ile171Leu)
c.754A>C (p.Ile252Leu)
9g.99138026A>GCA374229902TGFBR1c.535A>G (p.Ile179Val)
c.547A>G (p.Ile183Val)
c.380-4510A>G (n.380-4510A>G)
c.304A>G (p.Ile102Val)
c.*538A>G (n.*538A>G)
c.742A>G (p.Ile248Val)
c.511A>G (p.Ile171Val)
c.754A>G (p.Ile252Val)
9g.99138026A>TCA374229905TGFBR1c.535A>T (p.Ile179Phe)
c.547A>T (p.Ile183Phe)
c.380-4510A>T (n.380-4510A>T)
c.304A>T (p.Ile102Phe)
c.*538A>T (n.*538A>T)
c.742A>T (p.Ile248Phe)
c.511A>T (p.Ile171Phe)
c.754A>T (p.Ile252Phe)
 ClinVar dbSNP
9g.99138026_99138027delinsATCA1867255943TGFBR1c.535_536delinsAT (p.Ile179=)
c.547_548delinsAT (p.Ile183=)
c.380-4510_380-4509delinsAT (n.380-4510_380-4509delinsAT)
c.304_305delinsAT (p.Ile102=)
c.*538_*539delinsAT (n.*538_*539delinsAT)
c.742_743delinsAT (p.Ile248=)
c.511_512delinsAT (p.Ile171=)
c.754_755delinsAT (p.Ile252=)
9g.99138027T>ACA196889089TGFBR1c.536T>A (p.Ile179Asn)
c.548T>A (p.Ile183Asn)
c.380-4509T>A (n.380-4509T>A)
c.305T>A (p.Ile102Asn)
c.*539T>A (n.*539T>A)
c.743T>A (p.Ile248Asn)
c.512T>A (p.Ile171Asn)
c.755T>A (p.Ile252Asn)
 dbSNP
9g.99138027T>CCA374229909TGFBR1c.536T>C (p.Ile179Thr)
c.548T>C (p.Ile183Thr)
c.380-4509T>C (n.380-4509T>C)
c.305T>C (p.Ile102Thr)
c.*539T>C (n.*539T>C)
c.743T>C (p.Ile248Thr)
c.512T>C (p.Ile171Thr)
c.755T>C (p.Ile252Thr)
9g.99138027T>GCA374229910TGFBR1c.536T>G (p.Ile179Ser)
c.548T>G (p.Ile183Ser)
c.380-4509T>G (n.380-4509T>G)
c.305T>G (p.Ile102Ser)
c.*539T>G (n.*539T>G)
c.743T>G (p.Ile248Ser)
c.512T>G (p.Ile171Ser)
c.755T>G (p.Ile252Ser)
 dbSNP
9g.99138027T=CA1867255948TGFBR1c.536T= (p.Ile179=)
c.548T= (p.Ile183=)
c.380-4509T= (n.380-4509T=)
c.305T= (p.Ile102=)
c.*539T= (n.*539T=)
c.743T= (p.Ile248=)
c.512T= (p.Ile171=)
c.755T= (p.Ile252=)
9g.99138029delCA589583289TGFBR1c.538del (p.Tyr180IlefsTer4)
c.550del (p.Tyr184IlefsTer4)
c.380-4507del (n.380-4507del)
c.307del (p.Tyr103IlefsTer4)
c.*541del (n.*541del)
c.745del (p.Tyr249IlefsTer4)
c.514del (p.Tyr172IlefsTer4)
c.757del (p.Tyr253IlefsTer4)
 dbSNP gnomAD v2 gnomAD v4
9g.99138028T>ACA466434232TGFBR1c.537T>A (p.Ile179=)
c.549T>A (p.Ile183=)
c.380-4508T>A (n.380-4508T>A)
c.306T>A (p.Ile102=)
c.*540T>A (n.*540T>A)
c.744T>A (p.Ile248=)
c.513T>A (p.Ile171=)
c.756T>A (p.Ile252=)
 dbSNP
9g.99138028T>CCA466434233TGFBR1c.537T>C (p.Ile179=)
c.549T>C (p.Ile183=)
c.380-4508T>C (n.380-4508T>C)
c.306T>C (p.Ile102=)
c.*540T>C (n.*540T>C)
c.744T>C (p.Ile248=)
c.513T>C (p.Ile171=)
c.756T>C (p.Ile252=)
 ClinVar gnomAD v4
9g.99138028T>GCA374229911TGFBR1c.537T>G (p.Ile179Met)
c.549T>G (p.Ile183Met)
c.380-4508T>G (n.380-4508T>G)
c.306T>G (p.Ile102Met)
c.*540T>G (n.*540T>G)
c.744T>G (p.Ile248Met)
c.513T>G (p.Ile171Met)
c.756T>G (p.Ile252Met)
9g.99138029T>ACA374229917TGFBR1c.538T>A (p.Tyr180Asn)
c.550T>A (p.Tyr184Asn)
c.380-4507T>A (n.380-4507T>A)
c.307T>A (p.Tyr103Asn)
c.*541T>A (n.*541T>A)
c.745T>A (p.Tyr249Asn)
c.514T>A (p.Tyr172Asn)
c.757T>A (p.Tyr253Asn)
 dbSNP
9g.99138029T>CCA374229913TGFBR1c.538T>C (p.Tyr180His)
c.550T>C (p.Tyr184His)
c.380-4507T>C (n.380-4507T>C)
c.307T>C (p.Tyr103His)
c.*541T>C (n.*541T>C)
c.745T>C (p.Tyr249His)
c.514T>C (p.Tyr172His)
c.757T>C (p.Tyr253His)
 dbSNP
9g.99138029T>GCA374229915TGFBR1c.538T>G (p.Tyr180Asp)
c.550T>G (p.Tyr184Asp)
c.380-4507T>G (n.380-4507T>G)
c.307T>G (p.Tyr103Asp)
c.*541T>G (n.*541T>G)
c.745T>G (p.Tyr249Asp)
c.514T>G (p.Tyr172Asp)
c.757T>G (p.Tyr253Asp)
 ClinVar dbSNP
9g.99138030A>CCA374229919TGFBR1c.539A>C (p.Tyr180Ser)
c.551A>C (p.Tyr184Ser)
c.380-4506A>C (n.380-4506A>C)
c.308A>C (p.Tyr103Ser)
c.*542A>C (n.*542A>C)
c.746A>C (p.Tyr249Ser)
c.515A>C (p.Tyr172Ser)
c.758A>C (p.Tyr253Ser)
 dbSNP
9g.99138030A>GCA374229920TGFBR1c.539A>G (p.Tyr180Cys)
c.551A>G (p.Tyr184Cys)
c.380-4506A>G (n.380-4506A>G)
c.308A>G (p.Tyr103Cys)
c.*542A>G (n.*542A>G)
c.746A>G (p.Tyr249Cys)
c.515A>G (p.Tyr172Cys)
c.758A>G (p.Tyr253Cys)
 dbSNP gnomAD v4
9g.99138030A>TCA374229922TGFBR1c.539A>T (p.Tyr180Phe)
c.551A>T (p.Tyr184Phe)
c.380-4506A>T (n.380-4506A>T)
c.308A>T (p.Tyr103Phe)
c.*542A>T (n.*542A>T)
c.746A>T (p.Tyr249Phe)
c.515A>T (p.Tyr172Phe)
c.758A>T (p.Tyr253Phe)
 dbSNP
9g.99138031T>ACA374229924TGFBR1c.540T>A (p.Tyr180Ter)
c.552T>A (p.Tyr184Ter)
c.380-4505T>A (n.380-4505T>A)
c.309T>A (p.Tyr103Ter)
c.*543T>A (n.*543T>A)
c.747T>A (p.Tyr249Ter)
c.516T>A (p.Tyr172Ter)
c.759T>A (p.Tyr253Ter)
 dbSNP
9g.99138031T>CCA466434234TGFBR1c.540T>C (p.Tyr180=)
c.552T>C (p.Tyr184=)
c.380-4505T>C (n.380-4505T>C)
c.309T>C (p.Tyr103=)
c.*543T>C (n.*543T>C)
c.747T>C (p.Tyr249=)
c.516T>C (p.Tyr172=)
c.759T>C (p.Tyr253=)
 gnomAD v4
9g.99138031T>GCA374229927TGFBR1c.540T>G (p.Tyr180Ter)
c.552T>G (p.Tyr184Ter)
c.380-4505T>G (n.380-4505T>G)
c.309T>G (p.Tyr103Ter)
c.*543T>G (n.*543T>G)
c.747T>G (p.Tyr249Ter)
c.516T>G (p.Tyr172Ter)
c.759T>G (p.Tyr253Ter)
9g.99138032C>ACA374230169TGFBR1c.541C>A (p.Gln181Lys)
c.553C>A (p.Gln185Lys)
c.380-4504C>A (n.380-4504C>A)
c.310C>A (p.Gln104Lys)
c.*544C>A (n.*544C>A)
c.748C>A (p.Gln250Lys)
c.517C>A (p.Gln173Lys)
c.760C>A (p.Gln254Lys)
9g.99138032C>GCA374230171TGFBR1c.541C>G (p.Gln181Glu)
c.553C>G (p.Gln185Glu)
c.380-4504C>G (n.380-4504C>G)
c.310C>G (p.Gln104Glu)
c.*544C>G (n.*544C>G)
c.748C>G (p.Gln250Glu)
c.517C>G (p.Gln173Glu)
c.760C>G (p.Gln254Glu)
 dbSNP COSMIC
9g.99138032C>TCA374230173TGFBR1c.541C>T (p.Gln181Ter)
c.553C>T (p.Gln185Ter)
c.380-4504C>T (n.380-4504C>T)
c.310C>T (p.Gln104Ter)
c.*544C>T (n.*544C>T)
c.748C>T (p.Gln250Ter)
c.517C>T (p.Gln173Ter)
c.760C>T (p.Gln254Ter)
 dbSNP gnomAD v4
9g.99138033A>CCA374230175TGFBR1c.542A>C (p.Gln181Pro)
c.554A>C (p.Gln185Pro)
c.380-4503A>C (n.380-4503A>C)
c.311A>C (p.Gln104Pro)
c.*545A>C (n.*545A>C)
c.749A>C (p.Gln250Pro)
c.518A>C (p.Gln173Pro)
c.761A>C (p.Gln254Pro)
9g.99138033A>GCA374230176TGFBR1c.542A>G (p.Gln181Arg)
c.554A>G (p.Gln185Arg)
c.380-4503A>G (n.380-4503A>G)
c.311A>G (p.Gln104Arg)
c.*545A>G (n.*545A>G)
c.749A>G (p.Gln250Arg)
c.518A>G (p.Gln173Arg)
c.761A>G (p.Gln254Arg)
9g.99138033A>TCA374230178TGFBR1c.542A>T (p.Gln181Leu)
c.554A>T (p.Gln185Leu)
c.380-4503A>T (n.380-4503A>T)
c.311A>T (p.Gln104Leu)
c.*545A>T (n.*545A>T)
c.749A>T (p.Gln250Leu)
c.518A>T (p.Gln173Leu)
c.761A>T (p.Gln254Leu)
 dbSNP
9g.99138034A=CA1867255952TGFBR1c.543A= (p.Gln181=)
c.555A= (p.Gln185=)
c.380-4502A= (n.380-4502A=)
c.312A= (p.Gln104=)
c.*546A= (n.*546A=)
c.750A= (p.Gln250=)
c.519A= (p.Gln173=)
c.762A= (p.Gln254=)
9g.99138034A>CCA374230179TGFBR1c.543A>C (p.Gln181His)
c.555A>C (p.Gln185His)
c.380-4502A>C (n.380-4502A>C)
c.312A>C (p.Gln104His)
c.*546A>C (n.*546A>C)
c.750A>C (p.Gln250His)
c.519A>C (p.Gln173His)
c.762A>C (p.Gln254His)
 dbSNP
9g.99138034A>GCA466434272TGFBR1c.543A>G (p.Gln181=)
c.555A>G (p.Gln185=)
c.380-4502A>G (n.380-4502A>G)
c.312A>G (p.Gln104=)
c.*546A>G (n.*546A>G)
c.750A>G (p.Gln250=)
c.519A>G (p.Gln173=)
c.762A>G (p.Gln254=)
 dbSNP gnomAD v2 gnomAD v4
9g.99138034A>TCA374230181TGFBR1c.543A>T (p.Gln181His)
c.555A>T (p.Gln185His)
c.380-4502A>T (n.380-4502A>T)
c.312A>T (p.Gln104His)
c.*546A>T (n.*546A>T)
c.750A>T (p.Gln250His)
c.519A>T (p.Gln173His)
c.762A>T (p.Gln254His)
 dbSNP
9g.99138035A>CCA374230186TGFBR1c.544A>C (p.Thr182Pro)
c.556A>C (p.Thr186Pro)
c.380-4501A>C (n.380-4501A>C)
c.313A>C (p.Thr105Pro)
c.*547A>C (n.*547A>C)
c.751A>C (p.Thr251Pro)
c.520A>C (p.Thr174Pro)
c.763A>C (p.Thr255Pro)
9g.99138035A>GCA374230184TGFBR1c.544A>G (p.Thr182Ala)
c.556A>G (p.Thr186Ala)
c.380-4501A>G (n.380-4501A>G)
c.313A>G (p.Thr105Ala)
c.*547A>G (n.*547A>G)
c.751A>G (p.Thr251Ala)
c.520A>G (p.Thr174Ala)
c.763A>G (p.Thr255Ala)
9g.99138035A>TCA374230183TGFBR1c.544A>T (p.Thr182Ser)
c.556A>T (p.Thr186Ser)
c.380-4501A>T (n.380-4501A>T)
c.313A>T (p.Thr105Ser)
c.*547A>T (n.*547A>T)
c.751A>T (p.Thr251Ser)
c.520A>T (p.Thr174Ser)
c.763A>T (p.Thr255Ser)
 dbSNP
9g.99138036C>ACA374230188TGFBR1c.545C>A (p.Thr182Asn)
c.557C>A (p.Thr186Asn)
c.380-4500C>A (n.380-4500C>A)
c.314C>A (p.Thr105Asn)
c.*548C>A (n.*548C>A)
c.752C>A (p.Thr251Asn)
c.521C>A (p.Thr174Asn)
c.764C>A (p.Thr255Asn)
 dbSNP
9g.99138036C=CA1867255953TGFBR1c.545C= (p.Thr182=)
c.557C= (p.Thr186=)
c.380-4500C= (n.380-4500C=)
c.314C= (p.Thr105=)
c.*548C= (n.*548C=)
c.752C= (p.Thr251=)
c.521C= (p.Thr174=)
c.764C= (p.Thr255=)
9g.99138036C>GCA374230189TGFBR1c.545C>G (p.Thr182Ser)
c.557C>G (p.Thr186Ser)
c.380-4500C>G (n.380-4500C>G)
c.314C>G (p.Thr105Ser)
c.*548C>G (n.*548C>G)
c.752C>G (p.Thr251Ser)
c.521C>G (p.Thr174Ser)
c.764C>G (p.Thr255Ser)
 dbSNP
9g.99138036C>TCA374230190TGFBR1c.545C>T (p.Thr182Ile)
c.557C>T (p.Thr186Ile)
c.380-4500C>T (n.380-4500C>T)
c.314C>T (p.Thr105Ile)
c.*548C>T (n.*548C>T)
c.752C>T (p.Thr251Ile)
c.521C>T (p.Thr174Ile)
c.764C>T (p.Thr255Ile)
 dbSNP gnomAD v2 gnomAD v4
9g.99138036_99141407delCA658656028TGFBR1c.545_599-1129del
c.557_611-1129del
c.380-4500_380-1129del (n.380-4500_380-1129del)
c.314_368-1129del
c.*548_*602-1129del
c.752_806-1129del
c.521_575-1129del
c.764_818-1129del
 ClinVar
9g.99138037T>ACA466434277TGFBR1c.546T>A (p.Thr182=)
c.558T>A (p.Thr186=)
c.380-4499T>A (n.380-4499T>A)
c.315T>A (p.Thr105=)
c.*549T>A (n.*549T>A)
c.753T>A (p.Thr251=)
c.522T>A (p.Thr174=)
c.765T>A (p.Thr255=)
 dbSNP
9g.99138037T>CCA196889092TGFBR1c.546T>C (p.Thr182=)
c.558T>C (p.Thr186=)
c.380-4499T>C (n.380-4499T>C)
c.315T>C (p.Thr105=)
c.*549T>C (n.*549T>C)
c.753T>C (p.Thr251=)
c.522T>C (p.Thr174=)
c.765T>C (p.Thr255=)
 dbSNP gnomAD v2
9g.99138037T>GCA466434276TGFBR1c.546T>G (p.Thr182=)
c.558T>G (p.Thr186=)
c.380-4499T>G (n.380-4499T>G)
c.315T>G (p.Thr105=)
c.*549T>G (n.*549T>G)
c.753T>G (p.Thr251=)
c.522T>G (p.Thr174=)
c.765T>G (p.Thr255=)
 dbSNP
9g.99138037T=CA1867255955TGFBR1c.546T= (p.Thr182=)
c.558T= (p.Thr186=)
c.380-4499T= (n.380-4499T=)
c.315T= (p.Thr105=)
c.*549T= (n.*549T=)
c.753T= (p.Thr251=)
c.522T= (p.Thr174=)
c.765T= (p.Thr255=)
9g.99138038_99138039delCA2690965851TGFBR1c.547_548del (p.Val183AsnfsTer5)
c.559_560del (p.Val187AsnfsTer5)
c.380-4498_380-4497del (n.380-4498_380-4497del)
c.316_317del (p.Val106AsnfsTer5)
c.*550_*551del (n.*550_*551del)
c.754_755del (p.Val252AsnfsTer5)
c.523_524del (p.Val175AsnfsTer5)
c.766_767del (p.Val256AsnfsTer5)
 gnomAD v4
9g.99138038G>ACA374230191TGFBR1c.547G>A (p.Val183Ile)
c.559G>A (p.Val187Ile)
c.380-4498G>A (n.380-4498G>A)
c.316G>A (p.Val106Ile)
c.*550G>A (n.*550G>A)
c.754G>A (p.Val252Ile)
c.523G>A (p.Val175Ile)
c.766G>A (p.Val256Ile)
 dbSNP gnomAD v3 gnomAD v4
9g.99138038G>CCA374230192TGFBR1c.547G>C (p.Val183Leu)
c.559G>C (p.Val187Leu)
c.380-4498G>C (n.380-4498G>C)
c.316G>C (p.Val106Leu)
c.*550G>C (n.*550G>C)
c.754G>C (p.Val252Leu)
c.523G>C (p.Val175Leu)
c.766G>C (p.Val256Leu)
9g.99138038G=CA1867255959TGFBR1c.547G= (p.Val183=)
c.559G= (p.Val187=)
c.380-4498G= (n.380-4498G=)
c.316G= (p.Val106=)
c.*550G= (n.*550G=)
c.754G= (p.Val252=)
c.523G= (p.Val175=)
c.766G= (p.Val256=)
9g.99138038G>TCA374230193TGFBR1c.547G>T (p.Val183Leu)
c.559G>T (p.Val187Leu)
c.380-4498G>T (n.380-4498G>T)
c.316G>T (p.Val106Leu)
c.*550G>T (n.*550G>T)
c.754G>T (p.Val252Leu)
c.523G>T (p.Val175Leu)
c.766G>T (p.Val256Leu)
9g.99138039T>ACA374230194TGFBR1c.548T>A (p.Val183Glu)
c.560T>A (p.Val187Glu)
c.380-4497T>A (n.380-4497T>A)
c.317T>A (p.Val106Glu)
c.*551T>A (n.*551T>A)
c.755T>A (p.Val252Glu)
c.524T>A (p.Val175Glu)
c.767T>A (p.Val256Glu)
 dbSNP
9g.99138039T>CCA374230195TGFBR1c.548T>C (p.Val183Ala)
c.560T>C (p.Val187Ala)
c.380-4497T>C (n.380-4497T>C)
c.317T>C (p.Val106Ala)
c.*551T>C (n.*551T>C)
c.755T>C (p.Val252Ala)
c.524T>C (p.Val175Ala)
c.767T>C (p.Val256Ala)
 dbSNP
9g.99138039T>GCA374230196TGFBR1c.548T>G (p.Val183Gly)
c.560T>G (p.Val187Gly)
c.380-4497T>G (n.380-4497T>G)
c.317T>G (p.Val106Gly)
c.*551T>G (n.*551T>G)
c.755T>G (p.Val252Gly)
c.524T>G (p.Val175Gly)
c.767T>G (p.Val256Gly)
 dbSNP
9g.99138040A>CCA466434281TGFBR1c.549A>C (p.Val183=)
c.561A>C (p.Val187=)
c.380-4496A>C (n.380-4496A>C)
c.318A>C (p.Val106=)
c.*552A>C (n.*552A>C)
c.756A>C (p.Val252=)
c.525A>C (p.Val175=)
c.768A>C (p.Val256=)
 ClinVar
9g.99138040A>GCA466434282TGFBR1c.549A>G (p.Val183=)
c.561A>G (p.Val187=)
c.380-4496A>G (n.380-4496A>G)
c.318A>G (p.Val106=)
c.*552A>G (n.*552A>G)
c.756A>G (p.Val252=)
c.525A>G (p.Val175=)
c.768A>G (p.Val256=)
 gnomAD v4
9g.99138040A>TCA466434283TGFBR1c.549A>T (p.Val183=)
c.561A>T (p.Val187=)
c.380-4496A>T (n.380-4496A>T)
c.318A>T (p.Val106=)
c.*552A>T (n.*552A>T)
c.756A>T (p.Val252=)
c.525A>T (p.Val175=)
c.768A>T (p.Val256=)
9g.99138041A=CA1867255961TGFBR1c.550A= (p.Met184=)
c.562A= (p.Met188=)
c.380-4495A= (n.380-4495A=)
c.319A= (p.Met107=)
c.*553A= (n.*553A=)
c.757A= (p.Met253=)
c.526A= (p.Met176=)
c.769A= (p.Met257=)
9g.99138041A>CCA374230197TGFBR1c.550A>C (p.Met184Leu)
c.562A>C (p.Met188Leu)
c.380-4495A>C (n.380-4495A>C)
c.319A>C (p.Met107Leu)
c.*553A>C (n.*553A>C)
c.757A>C (p.Met253Leu)
c.526A>C (p.Met176Leu)
c.769A>C (p.Met257Leu)
9g.99138041A>GCA10587682TGFBR1c.550A>G (p.Met184Val)
c.562A>G (p.Met188Val)
c.380-4495A>G (n.380-4495A>G)
c.319A>G (p.Met107Val)
c.*553A>G (n.*553A>G)
c.757A>G (p.Met253Val)
c.526A>G (p.Met176Val)
c.769A>G (p.Met257Val)
 ClinVar dbSNP
9g.99138041A>TCA374230198TGFBR1c.550A>T (p.Met184Leu)
c.562A>T (p.Met188Leu)
c.380-4495A>T (n.380-4495A>T)
c.319A>T (p.Met107Leu)
c.*553A>T (n.*553A>T)
c.757A>T (p.Met253Leu)
c.526A>T (p.Met176Leu)
c.769A>T (p.Met257Leu)
 dbSNP
9g.99138042T>ACA374230202TGFBR1c.551T>A (p.Met184Lys)
c.563T>A (p.Met188Lys)
c.380-4494T>A (n.380-4494T>A)
c.320T>A (p.Met107Lys)
c.*554T>A (n.*554T>A)
c.758T>A (p.Met253Lys)
c.527T>A (p.Met176Lys)
c.770T>A (p.Met257Lys)
 dbSNP
9g.99138042T>CCA321603TGFBR1c.551T>C (p.Met184Thr)
c.563T>C (p.Met188Thr)
c.380-4494T>C (n.380-4494T>C)
c.320T>C (p.Met107Thr)
c.*554T>C (n.*554T>C)
c.758T>C (p.Met253Thr)
c.527T>C (p.Met176Thr)
c.770T>C (p.Met257Thr)
 ClinVar dbSNP
9g.99138042T>GCA374230200TGFBR1c.551T>G (p.Met184Arg)
c.563T>G (p.Met188Arg)
c.380-4494T>G (n.380-4494T>G)
c.320T>G (p.Met107Arg)
c.*554T>G (n.*554T>G)
c.758T>G (p.Met253Arg)
c.527T>G (p.Met176Arg)
c.770T>G (p.Met257Arg)
9g.99138042T=CA1867255967TGFBR1c.551T= (p.Met184=)
c.563T= (p.Met188=)
c.380-4494T= (n.380-4494T=)
c.320T= (p.Met107=)
c.*554T= (n.*554T=)
c.758T= (p.Met253=)
c.527T= (p.Met176=)
c.770T= (p.Met257=)
9g.99138043G>ACA374230203TGFBR1c.552G>A (p.Met184Ile)
c.564G>A (p.Met188Ile)
c.380-4493G>A (n.380-4493G>A)
c.321G>A (p.Met107Ile)
c.*555G>A (n.*555G>A)
c.759G>A (p.Met253Ile)
c.528G>A (p.Met176Ile)
c.771G>A (p.Met257Ile)
 ClinVar
9g.99138043G>CCA374230206TGFBR1c.552G>C (p.Met184Ile)
c.564G>C (p.Met188Ile)
c.380-4493G>C (n.380-4493G>C)
c.321G>C (p.Met107Ile)
c.*555G>C (n.*555G>C)
c.759G>C (p.Met253Ile)
c.528G>C (p.Met176Ile)
c.771G>C (p.Met257Ile)
9g.99138043G>TCA374230204TGFBR1c.552G>T (p.Met184Ile)
c.564G>T (p.Met188Ile)
c.380-4493G>T (n.380-4493G>T)
c.321G>T (p.Met107Ile)
c.*555G>T (n.*555G>T)
c.759G>T (p.Met253Ile)
c.528G>T (p.Met176Ile)
c.771G>T (p.Met257Ile)
9g.99138044T>ACA374230208TGFBR1c.553T>A (p.Leu185Ile)
c.565T>A (p.Leu189Ile)
c.380-4492T>A (n.380-4492T>A)
c.322T>A (p.Leu108Ile)
c.*556T>A (n.*556T>A)
c.760T>A (p.Leu254Ile)
c.529T>A (p.Leu177Ile)
c.772T>A (p.Leu258Ile)
 dbSNP
9g.99138044T>CCA042841TGFBR1c.553T>C (p.Leu185=)
c.565T>C (p.Leu189=)
c.380-4492T>C (n.380-4492T>C)
c.322T>C (p.Leu108=)
c.*556T>C (n.*556T>C)
c.760T>C (p.Leu254=)
c.529T>C (p.Leu177=)
c.772T>C (p.Leu258=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.99138044T>GCA374230210TGFBR1c.553T>G (p.Leu185Val)
c.565T>G (p.Leu189Val)
c.380-4492T>G (n.380-4492T>G)
c.322T>G (p.Leu108Val)
c.*556T>G (n.*556T>G)
c.760T>G (p.Leu254Val)
c.529T>G (p.Leu177Val)
c.772T>G (p.Leu258Val)
 ClinVar
9g.99138044T=CA1867255974TGFBR1c.553T= (p.Leu185=)
c.565T= (p.Leu189=)
c.380-4492T= (n.380-4492T=)
c.322T= (p.Leu108=)
c.*556T= (n.*556T=)
c.760T= (p.Leu254=)
c.529T= (p.Leu177=)
c.772T= (p.Leu258=)
9g.99138045T>ACA374230212TGFBR1c.554T>A (p.Leu185Ter)
c.566T>A (p.Leu189Ter)
c.380-4491T>A (n.380-4491T>A)
c.323T>A (p.Leu108Ter)
c.*557T>A (n.*557T>A)
c.761T>A (p.Leu254Ter)
c.530T>A (p.Leu177Ter)
c.773T>A (p.Leu258Ter)
9g.99138045T>CCA374230214TGFBR1c.554T>C (p.Leu185Ser)
c.566T>C (p.Leu189Ser)
c.380-4491T>C (n.380-4491T>C)
c.323T>C (p.Leu108Ser)
c.*557T>C (n.*557T>C)
c.761T>C (p.Leu254Ser)
c.530T>C (p.Leu177Ser)
c.773T>C (p.Leu258Ser)
9g.99138045T>GCA374230216TGFBR1c.554T>G (p.Leu185Ter)
c.566T>G (p.Leu189Ter)
c.380-4491T>G (n.380-4491T>G)
c.323T>G (p.Leu108Ter)
c.*557T>G (n.*557T>G)
c.761T>G (p.Leu254Ter)
c.530T>G (p.Leu177Ter)
c.773T>G (p.Leu258Ter)
9g.99138046A>CCA374230217TGFBR1c.555A>C (p.Leu185Phe)
c.567A>C (p.Leu189Phe)
c.380-4490A>C (n.380-4490A>C)
c.324A>C (p.Leu108Phe)
c.*558A>C (n.*558A>C)
c.762A>C (p.Leu254Phe)
c.531A>C (p.Leu177Phe)
c.774A>C (p.Leu258Phe)
9g.99138046A>GCA466434284TGFBR1c.555A>G (p.Leu185=)
c.567A>G (p.Leu189=)
c.380-4490A>G (n.380-4490A>G)
c.324A>G (p.Leu108=)
c.*558A>G (n.*558A>G)
c.762A>G (p.Leu254=)
c.531A>G (p.Leu177=)
c.774A>G (p.Leu258=)
 dbSNP
9g.99138046A>TCA374230219TGFBR1c.555A>T (p.Leu185Phe)
c.567A>T (p.Leu189Phe)
c.380-4490A>T (n.380-4490A>T)
c.324A>T (p.Leu108Phe)
c.*558A>T (n.*558A>T)
c.762A>T (p.Leu254Phe)
c.531A>T (p.Leu177Phe)
c.774A>T (p.Leu258Phe)
 dbSNP
9g.99138047C>ACA374230220TGFBR1c.556C>A (p.Arg186Ser)
c.568C>A (p.Arg190Ser)
c.380-4489C>A (n.380-4489C>A)
c.325C>A (p.Arg109Ser)
c.*559C>A (n.*559C>A)
c.763C>A (p.Arg255Ser)
c.532C>A (p.Arg178Ser)
c.775C>A (p.Arg259Ser)
 dbSNP
9g.99138047C=CA1867255981TGFBR1c.556C= (p.Arg186=)
c.568C= (p.Arg190=)
c.380-4489C= (n.380-4489C=)
c.325C= (p.Arg109=)
c.*559C= (n.*559C=)
c.763C= (p.Arg255=)
c.532C= (p.Arg178=)
c.775C= (p.Arg259=)
9g.99138047C>GCA374230221TGFBR1c.556C>G (p.Arg186Gly)
c.568C>G (p.Arg190Gly)
c.380-4489C>G (n.380-4489C>G)
c.325C>G (p.Arg109Gly)
c.*559C>G (n.*559C>G)
c.763C>G (p.Arg255Gly)
c.532C>G (p.Arg178Gly)
c.775C>G (p.Arg259Gly)
 dbSNP
9g.99138047C>TCA374230223TGFBR1c.556C>T (p.Arg186Cys)
c.568C>T (p.Arg190Cys)
c.380-4489C>T (n.380-4489C>T)
c.325C>T (p.Arg109Cys)
c.*559C>T (n.*559C>T)
c.763C>T (p.Arg255Cys)
c.532C>T (p.Arg178Cys)
c.775C>T (p.Arg259Cys)
 ClinVar dbSNP COSMIC
9g.99138048G>ACA374230228TGFBR1c.557G>A (p.Arg186His)
c.569G>A (p.Arg190His)
c.380-4488G>A (n.380-4488G>A)
c.326G>A (p.Arg109His)
c.*560G>A (n.*560G>A)
c.764G>A (p.Arg255His)
c.533G>A (p.Arg178His)
c.776G>A (p.Arg259His)
 dbSNP COSMIC
9g.99138048G>CCA374230227TGFBR1c.557G>C (p.Arg186Pro)
c.569G>C (p.Arg190Pro)
c.380-4488G>C (n.380-4488G>C)
c.326G>C (p.Arg109Pro)
c.*560G>C (n.*560G>C)
c.764G>C (p.Arg255Pro)
c.533G>C (p.Arg178Pro)
c.776G>C (p.Arg259Pro)
 dbSNP
9g.99138048G>TCA374230225TGFBR1c.557G>T (p.Arg186Leu)
c.569G>T (p.Arg190Leu)
c.380-4488G>T (n.380-4488G>T)
c.326G>T (p.Arg109Leu)
c.*560G>T (n.*560G>T)
c.764G>T (p.Arg255Leu)
c.533G>T (p.Arg178Leu)
c.776G>T (p.Arg259Leu)
 gnomAD v4 COSMIC
9g.99138049T>ACA466434285TGFBR1c.558T>A (p.Arg186=)
c.570T>A (p.Arg190=)
c.380-4487T>A (n.380-4487T>A)
c.327T>A (p.Arg109=)
c.*561T>A (n.*561T>A)
c.765T>A (p.Arg255=)
c.534T>A (p.Arg178=)
c.777T>A (p.Arg259=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.99138049T>CCA466434286TGFBR1c.558T>C (p.Arg186=)
c.570T>C (p.Arg190=)
c.380-4487T>C (n.380-4487T>C)
c.327T>C (p.Arg109=)
c.*561T>C (n.*561T>C)
c.765T>C (p.Arg255=)
c.534T>C (p.Arg178=)
c.777T>C (p.Arg259=)
9g.99138049T>GCA466434287TGFBR1c.558T>G (p.Arg186=)
c.570T>G (p.Arg190=)
c.380-4487T>G (n.380-4487T>G)
c.327T>G (p.Arg109=)
c.*561T>G (n.*561T>G)
c.765T>G (p.Arg255=)
c.534T>G (p.Arg178=)
c.777T>G (p.Arg259=)
9g.99138049T=CA1867255985TGFBR1c.558T= (p.Arg186=)
c.570T= (p.Arg190=)
c.380-4487T= (n.380-4487T=)
c.327T= (p.Arg109=)
c.*561T= (n.*561T=)
c.765T= (p.Arg255=)
c.534T= (p.Arg178=)
c.777T= (p.Arg259=)
9g.99138050C>ACA374230229TGFBR1c.559C>A (p.His187Asn)
c.571C>A (p.His191Asn)
c.380-4486C>A (n.380-4486C>A)
c.328C>A (p.His110Asn)
c.*562C>A (n.*562C>A)
c.766C>A (p.His256Asn)
c.535C>A (p.His179Asn)
c.778C>A (p.His260Asn)
 dbSNP
9g.99138050C>GCA374230231TGFBR1c.559C>G (p.His187Asp)
c.571C>G (p.His191Asp)
c.380-4486C>G (n.380-4486C>G)
c.328C>G (p.His110Asp)
c.*562C>G (n.*562C>G)
c.766C>G (p.His256Asp)
c.535C>G (p.His179Asp)
c.778C>G (p.His260Asp)
 dbSNP
9g.99138050C>TCA374230233TGFBR1c.559C>T (p.His187Tyr)
c.571C>T (p.His191Tyr)
c.380-4486C>T (n.380-4486C>T)
c.328C>T (p.His110Tyr)
c.*562C>T (n.*562C>T)
c.766C>T (p.His256Tyr)
c.535C>T (p.His179Tyr)
c.778C>T (p.His260Tyr)
 dbSNP
9g.99138050dupCA658797255TGFBR1c.559dup (p.His187ProfsTer2)
c.571dup (p.His191ProfsTer2)
c.380-4486dup (n.380-4486dup)
c.328dup (p.His110ProfsTer2)
c.*562dup (n.*562dup)
c.766dup (p.His256ProfsTer2)
c.535dup (p.His179ProfsTer2)
c.778dup (p.His260ProfsTer2)
 ClinVar dbSNP
9g.99138051A=CA1867255994TGFBR1c.560A= (p.His187=)
c.572A= (p.His191=)
c.380-4485A= (n.380-4485A=)
c.329A= (p.His110=)
c.*563A= (n.*563A=)
c.767A= (p.His256=)
c.536A= (p.His179=)
c.779A= (p.His260=)
9g.99138051A>CCA374230235TGFBR1c.560A>C (p.His187Pro)
c.572A>C (p.His191Pro)
c.380-4485A>C (n.380-4485A>C)
c.329A>C (p.His110Pro)
c.*563A>C (n.*563A>C)
c.767A>C (p.His256Pro)
c.536A>C (p.His179Pro)
c.779A>C (p.His260Pro)
9g.99138051A>GCA374230236TGFBR1c.560A>G (p.His187Arg)
c.572A>G (p.His191Arg)
c.380-4485A>G (n.380-4485A>G)
c.329A>G (p.His110Arg)
c.*563A>G (n.*563A>G)
c.767A>G (p.His256Arg)
c.536A>G (p.His179Arg)
c.779A>G (p.His260Arg)
 ClinVar dbSNP
9g.99138051A>TCA374230238TGFBR1c.560A>T (p.His187Leu)
c.572A>T (p.His191Leu)
c.380-4485A>T (n.380-4485A>T)
c.329A>T (p.His110Leu)
c.*563A>T (n.*563A>T)
c.767A>T (p.His256Leu)
c.536A>T (p.His179Leu)
c.779A>T (p.His260Leu)
 dbSNP
9g.99138052T>ACA374230240TGFBR1c.561T>A (p.His187Gln)
c.573T>A (p.His191Gln)
c.380-4484T>A (n.380-4484T>A)
c.330T>A (p.His110Gln)
c.*564T>A (n.*564T>A)
c.768T>A (p.His256Gln)
c.537T>A (p.His179Gln)
c.780T>A (p.His260Gln)
 dbSNP
9g.99138052T>CCA042874TGFBR1c.561T>C (p.His187=)
c.573T>C (p.His191=)
c.380-4484T>C (n.380-4484T>C)
c.330T>C (p.His110=)
c.*564T>C (n.*564T>C)
c.768T>C (p.His256=)
c.537T>C (p.His179=)
c.780T>C (p.His260=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.99138052T>GCA374230242TGFBR1c.561T>G (p.His187Gln)
c.573T>G (p.His191Gln)
c.380-4484T>G (n.380-4484T>G)
c.330T>G (p.His110Gln)
c.*564T>G (n.*564T>G)
c.768T>G (p.His256Gln)
c.537T>G (p.His179Gln)
c.780T>G (p.His260Gln)
9g.99138052T=CA1867255998TGFBR1c.561T= (p.His187=)
c.573T= (p.His191=)
c.380-4484T= (n.380-4484T=)
c.330T= (p.His110=)
c.*564T= (n.*564T=)
c.768T= (p.His256=)
c.537T= (p.His179=)
c.780T= (p.His260=)
9g.99138053G>ACA374230244TGFBR1c.562G>A (p.Glu188Lys)
c.574G>A (p.Glu192Lys)
c.380-4483G>A (n.380-4483G>A)
c.331G>A (p.Glu111Lys)
c.*565G>A (n.*565G>A)
c.769G>A (p.Glu257Lys)
c.538G>A (p.Glu180Lys)
c.781G>A (p.Glu261Lys)
9g.99138053G>CCA374230246TGFBR1c.562G>C (p.Glu188Gln)
c.574G>C (p.Glu192Gln)
c.380-4483G>C (n.380-4483G>C)
c.331G>C (p.Glu111Gln)
c.*565G>C (n.*565G>C)
c.769G>C (p.Glu257Gln)
c.538G>C (p.Glu180Gln)
c.781G>C (p.Glu261Gln)
 dbSNP
9g.99138053G>TCA374230247TGFBR1c.562G>T (p.Glu188Ter)
c.574G>T (p.Glu192Ter)
c.380-4483G>T (n.380-4483G>T)
c.331G>T (p.Glu111Ter)
c.*565G>T (n.*565G>T)
c.769G>T (p.Glu257Ter)
c.538G>T (p.Glu180Ter)
c.781G>T (p.Glu261Ter)
9g.99138054A>CCA374230250TGFBR1c.563A>C (p.Glu188Ala)
c.575A>C (p.Glu192Ala)
c.380-4482A>C (n.380-4482A>C)
c.332A>C (p.Glu111Ala)
c.*566A>C (n.*566A>C)
c.770A>C (p.Glu257Ala)
c.539A>C (p.Glu180Ala)
c.782A>C (p.Glu261Ala)
9g.99138054A>GCA374230249TGFBR1c.563A>G (p.Glu188Gly)
c.575A>G (p.Glu192Gly)
c.380-4482A>G (n.380-4482A>G)
c.332A>G (p.Glu111Gly)
c.*566A>G (n.*566A>G)
c.770A>G (p.Glu257Gly)
c.539A>G (p.Glu180Gly)
c.782A>G (p.Glu261Gly)
9g.99138054A>TCA374230248TGFBR1c.563A>T (p.Glu188Val)
c.575A>T (p.Glu192Val)
c.380-4482A>T (n.380-4482A>T)
c.332A>T (p.Glu111Val)
c.*566A>T (n.*566A>T)
c.770A>T (p.Glu257Val)
c.539A>T (p.Glu180Val)
c.782A>T (p.Glu261Val)
 dbSNP
9g.99138055A>CCA374230252TGFBR1c.564A>C (p.Glu188Asp)
c.576A>C (p.Glu192Asp)
c.380-4481A>C (n.380-4481A>C)
c.333A>C (p.Glu111Asp)
c.*567A>C (n.*567A>C)
c.771A>C (p.Glu257Asp)
c.540A>C (p.Glu180Asp)
c.783A>C (p.Glu261Asp)
9g.99138055A>GCA466434288TGFBR1c.564A>G (p.Glu188=)
c.576A>G (p.Glu192=)
c.380-4481A>G (n.380-4481A>G)
c.333A>G (p.Glu111=)
c.*567A>G (n.*567A>G)
c.771A>G (p.Glu257=)
c.540A>G (p.Glu180=)
c.783A>G (p.Glu261=)
9g.99138055A>TCA374230254TGFBR1c.564A>T (p.Glu188Asp)
c.576A>T (p.Glu192Asp)
c.380-4481A>T (n.380-4481A>T)
c.333A>T (p.Glu111Asp)
c.*567A>T (n.*567A>T)
c.771A>T (p.Glu257Asp)
c.540A>T (p.Glu180Asp)
c.783A>T (p.Glu261Asp)
 dbSNP
9g.99138056A>CCA374230256TGFBR1c.565A>C (p.Asn189His)
c.577A>C (p.Asn193His)
c.380-4480A>C (n.380-4480A>C)
c.334A>C (p.Asn112His)
c.*568A>C (n.*568A>C)
c.772A>C (p.Asn258His)
c.541A>C (p.Asn181His)
c.784A>C (p.Asn262His)
9g.99138056A>GCA374230257TGFBR1c.565A>G (p.Asn189Asp)
c.577A>G (p.Asn193Asp)
c.380-4480A>G (n.380-4480A>G)
c.334A>G (p.Asn112Asp)
c.*568A>G (n.*568A>G)
c.772A>G (p.Asn258Asp)
c.541A>G (p.Asn181Asp)
c.784A>G (p.Asn262Asp)
9g.99138056A>TCA374230259TGFBR1c.565A>T (p.Asn189Tyr)
c.577A>T (p.Asn193Tyr)
c.380-4480A>T (n.380-4480A>T)
c.334A>T (p.Asn112Tyr)
c.*568A>T (n.*568A>T)
c.772A>T (p.Asn258Tyr)
c.541A>T (p.Asn181Tyr)
c.784A>T (p.Asn262Tyr)
9g.99138057A>CCA374230261TGFBR1c.566A>C (p.Asn189Thr)
c.578A>C (p.Asn193Thr)
c.380-4479A>C (n.380-4479A>C)
c.335A>C (p.Asn112Thr)
c.*569A>C (n.*569A>C)
c.773A>C (p.Asn258Thr)
c.542A>C (p.Asn181Thr)
c.785A>C (p.Asn262Thr)
 dbSNP
9g.99138057A>GCA374230263TGFBR1c.566A>G (p.Asn189Ser)
c.578A>G (p.Asn193Ser)
c.380-4479A>G (n.380-4479A>G)
c.335A>G (p.Asn112Ser)
c.*569A>G (n.*569A>G)
c.773A>G (p.Asn258Ser)
c.542A>G (p.Asn181Ser)
c.785A>G (p.Asn262Ser)
9g.99138057A>TCA374230264TGFBR1c.566A>T (p.Asn189Ile)
c.578A>T (p.Asn193Ile)
c.380-4479A>T (n.380-4479A>T)
c.335A>T (p.Asn112Ile)
c.*569A>T (n.*569A>T)
c.773A>T (p.Asn258Ile)
c.542A>T (p.Asn181Ile)
c.785A>T (p.Asn262Ile)
 dbSNP
9g.99138058C>ACA374230266TGFBR1c.567C>A (p.Asn189Lys)
c.579C>A (p.Asn193Lys)
c.380-4478C>A (n.380-4478C>A)
c.336C>A (p.Asn112Lys)
c.*570C>A (n.*570C>A)
c.774C>A (p.Asn258Lys)
c.543C>A (p.Asn181Lys)
c.786C>A (p.Asn262Lys)
 dbSNP
9g.99138058C>GCA374230268TGFBR1c.567C>G (p.Asn189Lys)
c.579C>G (p.Asn193Lys)
c.380-4478C>G (n.380-4478C>G)
c.336C>G (p.Asn112Lys)
c.*570C>G (n.*570C>G)
c.774C>G (p.Asn258Lys)
c.543C>G (p.Asn181Lys)
c.786C>G (p.Asn262Lys)
 dbSNP
9g.99138058C>TCA466434289TGFBR1c.567C>T (p.Asn189=)
c.579C>T (p.Asn193=)
c.380-4478C>T (n.380-4478C>T)
c.336C>T (p.Asn112=)
c.*570C>T (n.*570C>T)
c.774C>T (p.Asn258=)
c.543C>T (p.Asn181=)
c.786C>T (p.Asn262=)
 dbSNP
9g.99138059A>CCA374230269TGFBR1c.568A>C (p.Ile190Leu)
c.580A>C (p.Ile194Leu)
c.380-4477A>C (n.380-4477A>C)
c.337A>C (p.Ile113Leu)
c.*571A>C (n.*571A>C)
c.775A>C (p.Ile259Leu)
c.544A>C (p.Ile182Leu)
c.787A>C (p.Ile263Leu)
 dbSNP
9g.99138059A>GCA374230271TGFBR1c.568A>G (p.Ile190Val)
c.580A>G (p.Ile194Val)
c.380-4477A>G (n.380-4477A>G)
c.337A>G (p.Ile113Val)
c.*571A>G (n.*571A>G)
c.775A>G (p.Ile259Val)
c.544A>G (p.Ile182Val)
c.787A>G (p.Ile263Val)
 ClinVar
9g.99138059A>TCA374230273TGFBR1c.568A>T (p.Ile190Phe)
c.580A>T (p.Ile194Phe)
c.380-4477A>T (n.380-4477A>T)
c.337A>T (p.Ile113Phe)
c.*571A>T (n.*571A>T)
c.775A>T (p.Ile259Phe)
c.544A>T (p.Ile182Phe)
c.787A>T (p.Ile263Phe)
 dbSNP
9g.99138060T>ACA374230278TGFBR1c.569T>A (p.Ile190Asn)
c.581T>A (p.Ile194Asn)
c.380-4476T>A (n.380-4476T>A)
c.338T>A (p.Ile113Asn)
c.*572T>A (n.*572T>A)
c.776T>A (p.Ile259Asn)
c.545T>A (p.Ile182Asn)
c.788T>A (p.Ile263Asn)
 dbSNP COSMIC
9g.99138060T>CCA374230274TGFBR1c.569T>C (p.Ile190Thr)
c.581T>C (p.Ile194Thr)
c.380-4476T>C (n.380-4476T>C)
c.338T>C (p.Ile113Thr)
c.*572T>C (n.*572T>C)
c.776T>C (p.Ile259Thr)
c.545T>C (p.Ile182Thr)
c.788T>C (p.Ile263Thr)
9g.99138060T>GCA374230276TGFBR1c.569T>G (p.Ile190Ser)
c.581T>G (p.Ile194Ser)
c.380-4476T>G (n.380-4476T>G)
c.338T>G (p.Ile113Ser)
c.*572T>G (n.*572T>G)
c.776T>G (p.Ile259Ser)
c.545T>G (p.Ile182Ser)
c.788T>G (p.Ile263Ser)
9g.99138061C>ACA466434290TGFBR1c.570C>A (p.Ile190=)
c.582C>A (p.Ile194=)
c.380-4475C>A (n.380-4475C>A)
c.339C>A (p.Ile113=)
c.*573C>A (n.*573C>A)
c.777C>A (p.Ile259=)
c.546C>A (p.Ile182=)
c.789C>A (p.Ile263=)
 dbSNP
9g.99138061C>GCA374230279TGFBR1c.570C>G (p.Ile190Met)
c.582C>G (p.Ile194Met)
c.380-4475C>G (n.380-4475C>G)
c.339C>G (p.Ile113Met)
c.*573C>G (n.*573C>G)
c.777C>G (p.Ile259Met)
c.546C>G (p.Ile182Met)
c.789C>G (p.Ile263Met)
 dbSNP
9g.99138061C>TCA466434291TGFBR1c.570C>T (p.Ile190=)
c.582C>T (p.Ile194=)
c.380-4475C>T (n.380-4475C>T)
c.339C>T (p.Ile113=)
c.*573C>T (n.*573C>T)
c.777C>T (p.Ile259=)
c.546C>T (p.Ile182=)
c.789C>T (p.Ile263=)
 ClinVar dbSNP COSMIC
9g.99138062C>ACA374230281TGFBR1c.571C>A (p.Leu191Met)
c.583C>A (p.Leu195Met)
c.380-4474C>A (n.380-4474C>A)
c.340C>A (p.Leu114Met)
c.*574C>A (n.*574C>A)
c.778C>A (p.Leu260Met)
c.547C>A (p.Leu183Met)
c.790C>A (p.Leu264Met)
 ClinVar dbSNP gnomAD v2
9g.99138062C=CA1867256001TGFBR1c.571C= (p.Leu191=)
c.583C= (p.Leu195=)
c.380-4474C= (n.380-4474C=)
c.340C= (p.Leu114=)
c.*574C= (n.*574C=)
c.778C= (p.Leu260=)
c.547C= (p.Leu183=)
c.790C= (p.Leu264=)
9g.99138062C>GCA374230282TGFBR1c.571C>G (p.Leu191Val)
c.583C>G (p.Leu195Val)
c.380-4474C>G (n.380-4474C>G)
c.340C>G (p.Leu114Val)
c.*574C>G (n.*574C>G)
c.778C>G (p.Leu260Val)
c.547C>G (p.Leu183Val)
c.790C>G (p.Leu264Val)
 dbSNP
9g.99138062C>TCA466434292TGFBR1c.571C>T (p.Leu191=)
c.583C>T (p.Leu195=)
c.380-4474C>T (n.380-4474C>T)
c.340C>T (p.Leu114=)
c.*574C>T (n.*574C>T)
c.778C>T (p.Leu260=)
c.547C>T (p.Leu183=)
c.790C>T (p.Leu264=)
 dbSNP
9g.99138063T>ACA008863TGFBR1c.572T>A (p.Leu191Gln)
c.584T>A (p.Leu195Gln)
c.380-4473T>A (n.380-4473T>A)
c.341T>A (p.Leu114Gln)
c.*575T>A (n.*575T>A)
c.779T>A (p.Leu260Gln)
c.548T>A (p.Leu183Gln)
c.791T>A (p.Leu264Gln)
 ClinVar dbSNP
9g.99138063T>CCA374230285TGFBR1c.572T>C (p.Leu191Pro)
c.584T>C (p.Leu195Pro)
c.380-4473T>C (n.380-4473T>C)
c.341T>C (p.Leu114Pro)
c.*575T>C (n.*575T>C)
c.779T>C (p.Leu260Pro)
c.548T>C (p.Leu183Pro)
c.791T>C (p.Leu264Pro)
 ClinVar dbSNP
9g.99138063T>GCA374230286TGFBR1c.572T>G (p.Leu191Arg)
c.584T>G (p.Leu195Arg)
c.380-4473T>G (n.380-4473T>G)
c.341T>G (p.Leu114Arg)
c.*575T>G (n.*575T>G)
c.779T>G (p.Leu260Arg)
c.548T>G (p.Leu183Arg)
c.791T>G (p.Leu264Arg)
9g.99138063T=CA1867256005TGFBR1c.572T= (p.Leu191=)
c.584T= (p.Leu195=)
c.380-4473T= (n.380-4473T=)
c.341T= (p.Leu114=)
c.*575T= (n.*575T=)
c.779T= (p.Leu260=)
c.548T= (p.Leu183=)
c.791T= (p.Leu264=)
9g.99138064G>ACA466434293TGFBR1c.573G>A (p.Leu191=)
c.585G>A (p.Leu195=)
c.380-4472G>A (n.380-4472G>A)
c.342G>A (p.Leu114=)
c.*576G>A (n.*576G>A)
c.780G>A (p.Leu260=)
c.549G>A (p.Leu183=)
c.792G>A (p.Leu264=)
9g.99138064G>CCA466434294TGFBR1c.573G>C (p.Leu191=)
c.585G>C (p.Leu195=)
c.380-4472G>C (n.380-4472G>C)
c.342G>C (p.Leu114=)
c.*576G>C (n.*576G>C)
c.780G>C (p.Leu260=)
c.549G>C (p.Leu183=)
c.792G>C (p.Leu264=)
 dbSNP
9g.99138064G>TCA466434295TGFBR1c.573G>T (p.Leu191=)
c.585G>T (p.Leu195=)
c.380-4472G>T (n.380-4472G>T)
c.342G>T (p.Leu114=)
c.*576G>T (n.*576G>T)
c.780G>T (p.Leu260=)
c.549G>T (p.Leu183=)
c.792G>T (p.Leu264=)
9g.99138064_99138070delinsGGGATTTCA1867256013TGFBR1c.573_579delinsGGGATTT (p.Leu191=)
c.585_591delinsGGGATTT (p.Leu195=)
c.380-4472_380-4466delinsGGGATTT (n.380-4472_380-4466delinsGGGATTT)
c.342_348delinsGGGATTT (p.Leu114=)
c.*576_*582delinsGGGATTT (n.*576_*582delinsGGGATTT)
c.780_786delinsGGGATTT (p.Leu260=)
c.549_555delinsGGGATTT (p.Leu183=)
c.792_798delinsGGGATTT (p.Leu264=)
9g.99138065G>ACA374230287TGFBR1c.574G>A (p.Gly192Arg)
c.586G>A (p.Gly196Arg)
c.380-4471G>A (n.380-4471G>A)
c.343G>A (p.Gly115Arg)
c.*577G>A (n.*577G>A)
c.781G>A (p.Gly261Arg)
c.550G>A (p.Gly184Arg)
c.793G>A (p.Gly265Arg)
 dbSNP
9g.99138065G>CCA374230289TGFBR1c.574G>C (p.Gly192Arg)
c.586G>C (p.Gly196Arg)
c.380-4471G>C (n.380-4471G>C)
c.343G>C (p.Gly115Arg)
c.*577G>C (n.*577G>C)
c.781G>C (p.Gly261Arg)
c.550G>C (p.Gly184Arg)
c.793G>C (p.Gly265Arg)
 dbSNP
9g.99138065G=CA1867256021TGFBR1c.574G= (p.Gly192=)
c.586G= (p.Gly196=)
c.380-4471G= (n.380-4471G=)
c.343G= (p.Gly115=)
c.*577G= (n.*577G=)
c.781G= (p.Gly261=)
c.550G= (p.Gly184=)
c.793G= (p.Gly265=)
9g.99138065G>TCA374230291TGFBR1c.574G>T (p.Gly192Ter)
c.586G>T (p.Gly196Ter)
c.380-4471G>T (n.380-4471G>T)
c.343G>T (p.Gly115Ter)
c.*577G>T (n.*577G>T)
c.781G>T (p.Gly261Ter)
c.550G>T (p.Gly184Ter)
c.793G>T (p.Gly265Ter)
 ClinVar dbSNP
9g.99138065_99138070delCA589361519TGFBR1c.574_579del (p.Gly192_Phe193del)
c.586_591del (p.Gly196_Phe197del)
c.380-4471_380-4466del (n.380-4471_380-4466del)
c.343_348del (p.Gly115_Phe116del)
c.*577_*582del (n.*577_*582del)
c.781_786del (p.Gly261_Phe262del)
c.550_555del (p.Gly184_Phe185del)
c.793_798del (p.Gly265_Phe266del)
 dbSNP gnomAD v2
9g.99138066G>ACA374230292TGFBR1c.575G>A (p.Gly192Glu)
c.587G>A (p.Gly196Glu)
c.380-4470G>A (n.380-4470G>A)
c.344G>A (p.Gly115Glu)
c.*578G>A (n.*578G>A)
c.782G>A (p.Gly261Glu)
c.551G>A (p.Gly184Glu)
c.794G>A (p.Gly265Glu)
 ClinVar dbSNP
9g.99138066G>CCA374230294TGFBR1c.575G>C (p.Gly192Ala)
c.587G>C (p.Gly196Ala)
c.380-4470G>C (n.380-4470G>C)
c.344G>C (p.Gly115Ala)
c.*578G>C (n.*578G>C)
c.782G>C (p.Gly261Ala)
c.551G>C (p.Gly184Ala)
c.794G>C (p.Gly265Ala)
 dbSNP
9g.99138066G>TCA374230295TGFBR1c.575G>T (p.Gly192Val)
c.587G>T (p.Gly196Val)
c.380-4470G>T (n.380-4470G>T)
c.344G>T (p.Gly115Val)
c.*578G>T (n.*578G>T)
c.782G>T (p.Gly261Val)
c.551G>T (p.Gly184Val)
c.794G>T (p.Gly265Val)
 dbSNP
9g.99138067A>CCA466434296TGFBR1c.576A>C (p.Gly192=)
c.588A>C (p.Gly196=)
c.380-4469A>C (n.380-4469A>C)
c.345A>C (p.Gly115=)
c.*579A>C (n.*579A>C)
c.783A>C (p.Gly261=)
c.552A>C (p.Gly184=)
c.795A>C (p.Gly265=)
9g.99138067A>GCA466434297TGFBR1c.576A>G (p.Gly192=)
c.588A>G (p.Gly196=)
c.380-4469A>G (n.380-4469A>G)
c.345A>G (p.Gly115=)
c.*579A>G (n.*579A>G)
c.783A>G (p.Gly261=)
c.552A>G (p.Gly184=)
c.795A>G (p.Gly265=)
9g.99138067A>TCA466434298TGFBR1c.576A>T (p.Gly192=)
c.588A>T (p.Gly196=)
c.380-4469A>T (n.380-4469A>T)
c.345A>T (p.Gly115=)
c.*579A>T (n.*579A>T)
c.783A>T (p.Gly261=)
c.552A>T (p.Gly184=)
c.795A>T (p.Gly265=)
9g.99138068T>ACA374230297TGFBR1c.577T>A (p.Phe193Ile)
c.589T>A (p.Phe197Ile)
c.380-4468T>A (n.380-4468T>A)
c.346T>A (p.Phe116Ile)
c.*580T>A (n.*580T>A)
c.784T>A (p.Phe262Ile)
c.553T>A (p.Phe185Ile)
c.796T>A (p.Phe266Ile)
 dbSNP
9g.99138068T>CCA374230300TGFBR1c.577T>C (p.Phe193Leu)
c.589T>C (p.Phe197Leu)
c.380-4468T>C (n.380-4468T>C)
c.346T>C (p.Phe116Leu)
c.*580T>C (n.*580T>C)
c.784T>C (p.Phe262Leu)
c.553T>C (p.Phe185Leu)
c.796T>C (p.Phe266Leu)
9g.99138068T>GCA374230299TGFBR1c.577T>G (p.Phe193Val)
c.589T>G (p.Phe197Val)
c.380-4468T>G (n.380-4468T>G)
c.346T>G (p.Phe116Val)
c.*580T>G (n.*580T>G)
c.784T>G (p.Phe262Val)
c.553T>G (p.Phe185Val)
c.796T>G (p.Phe266Val)
9g.99138069T>ACA374230301TGFBR1c.578T>A (p.Phe193Tyr)
c.590T>A (p.Phe197Tyr)
c.380-4467T>A (n.380-4467T>A)
c.347T>A (p.Phe116Tyr)
c.*581T>A (n.*581T>A)
c.785T>A (p.Phe262Tyr)
c.554T>A (p.Phe185Tyr)
c.797T>A (p.Phe266Tyr)
 dbSNP
9g.99138069T>CCA374230303TGFBR1c.578T>C (p.Phe193Ser)
c.590T>C (p.Phe197Ser)
c.380-4467T>C (n.380-4467T>C)
c.347T>C (p.Phe116Ser)
c.*581T>C (n.*581T>C)
c.785T>C (p.Phe262Ser)
c.554T>C (p.Phe185Ser)
c.797T>C (p.Phe266Ser)
9g.99138069T>GCA374230302TGFBR1c.578T>G (p.Phe193Cys)
c.590T>G (p.Phe197Cys)
c.380-4467T>G (n.380-4467T>G)
c.347T>G (p.Phe116Cys)
c.*581T>G (n.*581T>G)
c.785T>G (p.Phe262Cys)
c.554T>G (p.Phe185Cys)
c.797T>G (p.Phe266Cys)
9g.99138070T>ACA374230305TGFBR1c.579T>A (p.Phe193Leu)
c.591T>A (p.Phe197Leu)
c.380-4466T>A (n.380-4466T>A)
c.348T>A (p.Phe116Leu)
c.*582T>A (n.*582T>A)
c.786T>A (p.Phe262Leu)
c.555T>A (p.Phe185Leu)
c.798T>A (p.Phe266Leu)
 dbSNP
9g.99138070T>CCA466434299TGFBR1c.579T>C (p.Phe193=)
c.591T>C (p.Phe197=)
c.380-4466T>C (n.380-4466T>C)
c.348T>C (p.Phe116=)
c.*582T>C (n.*582T>C)
c.786T>C (p.Phe262=)
c.555T>C (p.Phe185=)
c.798T>C (p.Phe266=)
9g.99138070T>GCA374230307TGFBR1c.579T>G (p.Phe193Leu)
c.591T>G (p.Phe197Leu)
c.380-4466T>G (n.380-4466T>G)
c.348T>G (p.Phe116Leu)
c.*582T>G (n.*582T>G)
c.786T>G (p.Phe262Leu)
c.555T>G (p.Phe185Leu)
c.798T>G (p.Phe266Leu)
9g.99138071A=CA1867256026TGFBR1c.580A= (p.Ile194=)
c.592A= (p.Ile198=)
c.380-4465A= (n.380-4465A=)
c.349A= (p.Ile117=)
c.*583A= (n.*583A=)
c.787A= (p.Ile263=)
c.556A= (p.Ile186=)
c.799A= (p.Ile267=)
9g.99138071A>CCA374230309TGFBR1c.580A>C (p.Ile194Leu)
c.592A>C (p.Ile198Leu)
c.380-4465A>C (n.380-4465A>C)
c.349A>C (p.Ile117Leu)
c.*583A>C (n.*583A>C)
c.787A>C (p.Ile263Leu)
c.556A>C (p.Ile186Leu)
c.799A>C (p.Ile267Leu)
 dbSNP
9g.99138071A>GCA374230310TGFBR1c.580A>G (p.Ile194Val)
c.592A>G (p.Ile198Val)
c.380-4465A>G (n.380-4465A>G)
c.349A>G (p.Ile117Val)
c.*583A>G (n.*583A>G)
c.787A>G (p.Ile263Val)
c.556A>G (p.Ile186Val)
c.799A>G (p.Ile267Val)
 ClinVar dbSNP
9g.99138071A>TCA374230311TGFBR1c.580A>T (p.Ile194Leu)
c.592A>T (p.Ile198Leu)
c.380-4465A>T (n.380-4465A>T)
c.349A>T (p.Ile117Leu)
c.*583A>T (n.*583A>T)
c.787A>T (p.Ile263Leu)
c.556A>T (p.Ile186Leu)
c.799A>T (p.Ile267Leu)
 dbSNP
9g.99138072T>ACA374230313TGFBR1c.581T>A (p.Ile194Lys)
c.593T>A (p.Ile198Lys)
c.380-4464T>A (n.380-4464T>A)
c.350T>A (p.Ile117Lys)
c.*584T>A (n.*584T>A)
c.788T>A (p.Ile263Lys)
c.557T>A (p.Ile186Lys)
c.800T>A (p.Ile267Lys)
9g.99138072T>CCA374230315TGFBR1c.581T>C (p.Ile194Thr)
c.593T>C (p.Ile198Thr)
c.380-4464T>C (n.380-4464T>C)
c.350T>C (p.Ile117Thr)
c.*584T>C (n.*584T>C)
c.788T>C (p.Ile263Thr)
c.557T>C (p.Ile186Thr)
c.800T>C (p.Ile267Thr)
 gnomAD v4
9g.99138072T>GCA374230316TGFBR1c.581T>G (p.Ile194Arg)
c.593T>G (p.Ile198Arg)
c.380-4464T>G (n.380-4464T>G)
c.350T>G (p.Ile117Arg)
c.*584T>G (n.*584T>G)
c.788T>G (p.Ile263Arg)
c.557T>G (p.Ile186Arg)
c.800T>G (p.Ile267Arg)
9g.99138072_99138075delinsTAGCCA1867256031TGFBR1c.581_584delinsTAGC (p.Ile194=)
c.593_596delinsTAGC (p.Ile198=)
c.380-4464_380-4461delinsTAGC (n.380-4464_380-4461delinsTAGC)
c.350_353delinsTAGC (p.Ile117=)
c.*584_*587delinsTAGC (n.*584_*587delinsTAGC)
c.788_791delinsTAGC (p.Ile263=)
c.557_560delinsTAGC (p.Ile186=)
c.800_803delinsTAGC (p.Ile267=)
9g.99138073A>CCA466434300TGFBR1c.582A>C (p.Ile194=)
c.594A>C (p.Ile198=)
c.380-4463A>C (n.380-4463A>C)
c.351A>C (p.Ile117=)
c.*585A>C (n.*585A>C)
c.789A>C (p.Ile263=)
c.558A>C (p.Ile186=)
c.801A>C (p.Ile267=)
9g.99138073A>GCA374230318TGFBR1c.582A>G (p.Ile194Met)
c.594A>G (p.Ile198Met)
c.380-4463A>G (n.380-4463A>G)
c.351A>G (p.Ile117Met)
c.*585A>G (n.*585A>G)
c.789A>G (p.Ile263Met)
c.558A>G (p.Ile186Met)
c.801A>G (p.Ile267Met)
9g.99138073A>TCA466434301TGFBR1c.582A>T (p.Ile194=)
c.594A>T (p.Ile198=)
c.380-4463A>T (n.380-4463A>T)
c.351A>T (p.Ile117=)
c.*585A>T (n.*585A>T)
c.789A>T (p.Ile263=)
c.558A>T (p.Ile186=)
c.801A>T (p.Ile267=)
 dbSNP
9g.99138078_99138080delCA1867256034TGFBR1c.587_589del (p.Ala196del)
c.599_601del (p.Ala200del)
c.380-4458_380-4456del (n.380-4458_380-4456del)
c.356_358del (p.Ala119del)
c.*590_*592del (n.*590_*592del)
c.794_796del (p.Ala265del)
c.563_565del (p.Ala188del)
c.806_808del (p.Ala269del)
 ClinVar dbSNP
9g.99138074G>ACA374230319TGFBR1c.583G>A (p.Ala195Thr)
c.595G>A (p.Ala199Thr)
c.380-4462G>A (n.380-4462G>A)
c.352G>A (p.Ala118Thr)
c.*586G>A (n.*586G>A)
c.790G>A (p.Ala264Thr)
c.559G>A (p.Ala187Thr)
c.802G>A (p.Ala268Thr)
 ClinVar dbSNP
9g.99138074G>CCA374230321TGFBR1c.583G>C (p.Ala195Pro)
c.595G>C (p.Ala199Pro)
c.380-4462G>C (n.380-4462G>C)
c.352G>C (p.Ala118Pro)
c.*586G>C (n.*586G>C)
c.790G>C (p.Ala264Pro)
c.559G>C (p.Ala187Pro)
c.802G>C (p.Ala268Pro)
 dbSNP
9g.99138074G>TCA374230323TGFBR1c.583G>T (p.Ala195Ser)
c.595G>T (p.Ala199Ser)
c.380-4462G>T (n.380-4462G>T)
c.352G>T (p.Ala118Ser)
c.*586G>T (n.*586G>T)
c.790G>T (p.Ala264Ser)
c.559G>T (p.Ala187Ser)
c.802G>T (p.Ala268Ser)
 dbSNP
9g.99138075C>ACA374230325TGFBR1c.584C>A (p.Ala195Glu)
c.596C>A (p.Ala199Glu)
c.380-4461C>A (n.380-4461C>A)
c.353C>A (p.Ala118Glu)
c.*587C>A (n.*587C>A)
c.791C>A (p.Ala264Glu)
c.560C>A (p.Ala187Glu)
c.803C>A (p.Ala268Glu)
 dbSNP
9g.99138075C>GCA374230326TGFBR1c.584C>G (p.Ala195Gly)
c.596C>G (p.Ala199Gly)
c.380-4461C>G (n.380-4461C>G)
c.353C>G (p.Ala118Gly)
c.*587C>G (n.*587C>G)
c.791C>G (p.Ala264Gly)
c.560C>G (p.Ala187Gly)
c.803C>G (p.Ala268Gly)
 dbSNP
9g.99138075C>TCA374230327TGFBR1c.584C>T (p.Ala195Val)
c.596C>T (p.Ala199Val)
c.380-4461C>T (n.380-4461C>T)
c.353C>T (p.Ala118Val)
c.*587C>T (n.*587C>T)
c.791C>T (p.Ala264Val)
c.560C>T (p.Ala187Val)
c.803C>T (p.Ala268Val)
 ClinVar dbSNP
9g.99138076A>CCA466434302TGFBR1c.585A>C (p.Ala195=)
c.597A>C (p.Ala199=)
c.380-4460A>C (n.380-4460A>C)
c.354A>C (p.Ala118=)
c.*588A>C (n.*588A>C)
c.792A>C (p.Ala264=)
c.561A>C (p.Ala187=)
c.804A>C (p.Ala268=)
9g.99138076A>GCA466434304TGFBR1c.585A>G (p.Ala195=)
c.597A>G (p.Ala199=)
c.380-4460A>G (n.380-4460A>G)
c.354A>G (p.Ala118=)
c.*588A>G (n.*588A>G)
c.792A>G (p.Ala264=)
c.561A>G (p.Ala187=)
c.804A>G (p.Ala268=)
 dbSNP
9g.99138076A>TCA466434303TGFBR1c.585A>T (p.Ala195=)
c.597A>T (p.Ala199=)
c.380-4460A>T (n.380-4460A>T)
c.354A>T (p.Ala118=)
c.*588A>T (n.*588A>T)
c.792A>T (p.Ala264=)
c.561A>T (p.Ala187=)
c.804A>T (p.Ala268=)
 dbSNP
9g.99138077G>ACA374230330TGFBR1c.586G>A (p.Ala196Thr)
c.598G>A (p.Ala200Thr)
c.380-4459G>A (n.380-4459G>A)
c.355G>A (p.Ala119Thr)
c.*589G>A (n.*589G>A)
c.793G>A (p.Ala265Thr)
c.562G>A (p.Ala188Thr)
c.805G>A (p.Ala269Thr)
 dbSNP
9g.99138077G>CCA374230333TGFBR1c.586G>C (p.Ala196Pro)
c.598G>C (p.Ala200Pro)
c.380-4459G>C (n.380-4459G>C)
c.355G>C (p.Ala119Pro)
c.*589G>C (n.*589G>C)
c.793G>C (p.Ala265Pro)
c.562G>C (p.Ala188Pro)
c.805G>C (p.Ala269Pro)
 dbSNP
9g.99138077G=CA1867256037TGFBR1c.586G= (p.Ala196=)
c.598G= (p.Ala200=)
c.380-4459G= (n.380-4459G=)
c.355G= (p.Ala119=)
c.*589G= (n.*589G=)
c.793G= (p.Ala265=)
c.562G= (p.Ala188=)
c.805G= (p.Ala269=)
9g.99138077G>TCA374230331TGFBR1c.586G>T (p.Ala196Ser)
c.598G>T (p.Ala200Ser)
c.380-4459G>T (n.380-4459G>T)
c.355G>T (p.Ala119Ser)
c.*589G>T (n.*589G>T)
c.793G>T (p.Ala265Ser)
c.562G>T (p.Ala188Ser)
c.805G>T (p.Ala269Ser)
 dbSNP gnomAD v2 gnomAD v4
9g.99138078C>ACA374230334TGFBR1c.587C>A (p.Ala196Glu)
c.599C>A (p.Ala200Glu)
c.380-4458C>A (n.380-4458C>A)
c.356C>A (p.Ala119Glu)
c.*590C>A (n.*590C>A)
c.794C>A (p.Ala265Glu)
c.563C>A (p.Ala188Glu)
c.806C>A (p.Ala269Glu)
 dbSNP
9g.99138078C>GCA374230336TGFBR1c.587C>G (p.Ala196Gly)
c.599C>G (p.Ala200Gly)
c.380-4458C>G (n.380-4458C>G)
c.356C>G (p.Ala119Gly)
c.*590C>G (n.*590C>G)
c.794C>G (p.Ala265Gly)
c.563C>G (p.Ala188Gly)
c.806C>G (p.Ala269Gly)
 dbSNP
9g.99138078C>TCA374230338TGFBR1c.587C>T (p.Ala196Val)
c.599C>T (p.Ala200Val)
c.380-4458C>T (n.380-4458C>T)
c.356C>T (p.Ala119Val)
c.*590C>T (n.*590C>T)
c.794C>T (p.Ala265Val)
c.563C>T (p.Ala188Val)
c.806C>T (p.Ala269Val)
 dbSNP
9g.99138079A=CA1867256042TGFBR1c.588A= (p.Ala196=)
c.600A= (p.Ala200=)
c.380-4457A= (n.380-4457A=)
c.357A= (p.Ala119=)
c.*591A= (n.*591A=)
c.795A= (p.Ala265=)
c.564A= (p.Ala188=)
c.807A= (p.Ala269=)
9g.99138079A>CCA196889130TGFBR1c.588A>C (p.Ala196=)
c.600A>C (p.Ala200=)
c.380-4457A>C (n.380-4457A>C)
c.357A>C (p.Ala119=)
c.*591A>C (n.*591A>C)
c.795A>C (p.Ala265=)
c.564A>C (p.Ala188=)
c.807A>C (p.Ala269=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.99138079A>GCA466434305TGFBR1c.588A>G (p.Ala196=)
c.600A>G (p.Ala200=)
c.380-4457A>G (n.380-4457A>G)
c.357A>G (p.Ala119=)
c.*591A>G (n.*591A>G)
c.795A>G (p.Ala265=)
c.564A>G (p.Ala188=)
c.807A>G (p.Ala269=)
9g.99138079A>TCA466434306TGFBR1c.588A>T (p.Ala196=)
c.600A>T (p.Ala200=)
c.380-4457A>T (n.380-4457A>T)
c.357A>T (p.Ala119=)
c.*591A>T (n.*591A>T)
c.795A>T (p.Ala265=)
c.564A>T (p.Ala188=)
c.807A>T (p.Ala269=)
 dbSNP
9g.99138080G>ACA16612966TGFBR1c.589G>A (p.Asp197Asn)
c.601G>A (p.Asp201Asn)
c.380-4456G>A (n.380-4456G>A)
c.358G>A (p.Asp120Asn)
c.*592G>A (n.*592G>A)
c.796G>A (p.Asp266Asn)
c.565G>A (p.Asp189Asn)
c.808G>A (p.Asp270Asn)
 ClinVar dbSNP COSMIC
9g.99138080G>CCA374230341TGFBR1c.589G>C (p.Asp197His)
c.601G>C (p.Asp201His)
c.380-4456G>C (n.380-4456G>C)
c.358G>C (p.Asp120His)
c.*592G>C (n.*592G>C)
c.796G>C (p.Asp266His)
c.565G>C (p.Asp189His)
c.808G>C (p.Asp270His)
 dbSNP
9g.99138080G=CA1867256047TGFBR1c.589G= (p.Asp197=)
c.601G= (p.Asp201=)
c.380-4456G= (n.380-4456G=)
c.358G= (p.Asp120=)
c.*592G= (n.*592G=)
c.796G= (p.Asp266=)
c.565G= (p.Asp189=)
c.808G= (p.Asp270=)
9g.99138080G>TCA374230342TGFBR1c.589G>T (p.Asp197Tyr)
c.601G>T (p.Asp201Tyr)
c.380-4456G>T (n.380-4456G>T)
c.358G>T (p.Asp120Tyr)
c.*592G>T (n.*592G>T)
c.796G>T (p.Asp266Tyr)
c.565G>T (p.Asp189Tyr)
c.808G>T (p.Asp270Tyr)
9g.99138081A=CA1867256051TGFBR1c.590A= (p.Asp197=)
c.602A= (p.Asp201=)
c.380-4455A= (n.380-4455A=)
c.359A= (p.Asp120=)
c.*593A= (n.*593A=)
c.797A= (p.Asp266=)
c.566A= (p.Asp189=)
c.809A= (p.Asp270=)
9g.99138081A>CCA374230344TGFBR1c.590A>C (p.Asp197Ala)
c.602A>C (p.Asp201Ala)
c.380-4455A>C (n.380-4455A>C)
c.359A>C (p.Asp120Ala)
c.*593A>C (n.*593A>C)
c.797A>C (p.Asp266Ala)
c.566A>C (p.Asp189Ala)
c.809A>C (p.Asp270Ala)
9g.99138081A>GCA322019TGFBR1c.590A>G (p.Asp197Gly)
c.602A>G (p.Asp201Gly)
c.380-4455A>G (n.380-4455A>G)
c.359A>G (p.Asp120Gly)
c.*593A>G (n.*593A>G)
c.797A>G (p.Asp266Gly)
c.566A>G (p.Asp189Gly)
c.809A>G (p.Asp270Gly)
 ClinVar dbSNP
9g.99138081A>TCA374230346TGFBR1c.590A>T (p.Asp197Val)
c.602A>T (p.Asp201Val)
c.380-4455A>T (n.380-4455A>T)
c.359A>T (p.Asp120Val)
c.*593A>T (n.*593A>T)
c.797A>T (p.Asp266Val)
c.566A>T (p.Asp189Val)
c.809A>T (p.Asp270Val)
 ClinVar dbSNP

Number of alleles fetched