Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
9	g.99142487A=	CA1867259926	TGFBR1	c.599-49A= (n.599-49A=) c.611-49A= (n.611-49A=) c.380-49A= (n.380-49A=) c.368-49A= (n.368-49A=) c.602-49A= (n.602-49A=) c.806-49A= (n.806-49A=) c.575-49A= (n.575-49A=) c.818-49A= (n.818-49A=)
9	g.99142487A>C	CA196891429	TGFBR1	c.599-49A>C (n.599-49A>C) c.611-49A>C (n.611-49A>C) c.380-49A>C (n.380-49A>C) c.368-49A>C (n.368-49A>C) c.602-49A>C (n.602-49A>C) c.806-49A>C (n.806-49A>C) c.575-49A>C (n.575-49A>C) c.818-49A>C (n.818-49A>C)	dbSNP gnomAD v3 gnomAD v4
9	g.99142489T>A	CA2720054977	TGFBR1	c.599-47T>A (n.599-47T>A) c.611-47T>A (n.611-47T>A) c.380-47T>A (n.380-47T>A) c.368-47T>A (n.368-47T>A) c.602-47T>A (n.602-47T>A) c.806-47T>A (n.806-47T>A) c.575-47T>A (n.575-47T>A) c.818-47T>A (n.818-47T>A)	dbSNP
9	g.99142489T>C	CA043170	TGFBR1	c.599-47T>C (n.599-47T>C) c.611-47T>C (n.611-47T>C) c.380-47T>C (n.380-47T>C) c.368-47T>C (n.368-47T>C) c.602-47T>C (n.602-47T>C) c.806-47T>C (n.806-47T>C) c.575-47T>C (n.575-47T>C) c.818-47T>C (n.818-47T>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9	g.99142489T=	CA1867259928	TGFBR1	c.599-47T= (n.599-47T=) c.611-47T= (n.611-47T=) c.380-47T= (n.380-47T=) c.368-47T= (n.368-47T=) c.602-47T= (n.602-47T=) c.806-47T= (n.806-47T=) c.575-47T= (n.575-47T=) c.818-47T= (n.818-47T=)
9	g.99142491_99142500del	CA2579400656	TGFBR1	c.599-45_599-36del (n.599-45_599-36del) c.611-45_611-36del (n.611-45_611-36del) c.380-45_380-36del (n.380-45_380-36del) c.368-45_368-36del (n.368-45_368-36del) c.602-45_602-36del (n.602-45_602-36del) c.806-45_806-36del (n.806-45_806-36del) c.575-45_575-36del (n.575-45_575-36del) c.818-45_818-36del (n.818-45_818-36del)
9	g.99142490del	CA2690965989	TGFBR1	c.599-46del (n.599-46del) c.611-46del (n.611-46del) c.380-46del (n.380-46del) c.368-46del (n.368-46del) c.602-46del (n.602-46del) c.806-46del (n.806-46del) c.575-46del (n.575-46del) c.818-46del (n.818-46del)	gnomAD v4
9	g.99142490C>A	CA2690965990	TGFBR1	c.599-46C>A (n.599-46C>A) c.611-46C>A (n.611-46C>A) c.380-46C>A (n.380-46C>A) c.368-46C>A (n.368-46C>A) c.602-46C>A (n.602-46C>A) c.806-46C>A (n.806-46C>A) c.575-46C>A (n.575-46C>A) c.818-46C>A (n.818-46C>A)	dbSNP gnomAD v4
9	g.99142490C=	CA1867259929	TGFBR1	c.599-46C= (n.599-46C=) c.611-46C= (n.611-46C=) c.380-46C= (n.380-46C=) c.368-46C= (n.368-46C=) c.602-46C= (n.602-46C=) c.806-46C= (n.806-46C=) c.575-46C= (n.575-46C=) c.818-46C= (n.818-46C=)
9	g.99142490C>G	CA043159	TGFBR1	c.599-46C>G (n.599-46C>G) c.611-46C>G (n.611-46C>G) c.380-46C>G (n.380-46C>G) c.368-46C>G (n.368-46C>G) c.602-46C>G (n.602-46C>G) c.806-46C>G (n.806-46C>G) c.575-46C>G (n.575-46C>G) c.818-46C>G (n.818-46C>G)	dbSNP ExAC gnomAD v2 gnomAD v4
9	g.99142490C>T	CA2720056550	TGFBR1	c.599-46C>T (n.599-46C>T) c.611-46C>T (n.611-46C>T) c.380-46C>T (n.380-46C>T) c.368-46C>T (n.368-46C>T) c.602-46C>T (n.602-46C>T) c.806-46C>T (n.806-46C>T) c.575-46C>T (n.575-46C>T) c.818-46C>T (n.818-46C>T)	dbSNP
9	g.99142491A=	CA1867259930	TGFBR1	c.599-45A= (n.599-45A=) c.611-45A= (n.611-45A=) c.380-45A= (n.380-45A=) c.368-45A= (n.368-45A=) c.602-45A= (n.602-45A=) c.806-45A= (n.806-45A=) c.575-45A= (n.575-45A=) c.818-45A= (n.818-45A=)
9	g.99142491A>C	CA2690965991	TGFBR1	c.599-45A>C (n.599-45A>C) c.611-45A>C (n.611-45A>C) c.380-45A>C (n.380-45A>C) c.368-45A>C (n.368-45A>C) c.602-45A>C (n.602-45A>C) c.806-45A>C (n.806-45A>C) c.575-45A>C (n.575-45A>C) c.818-45A>C (n.818-45A>C)	gnomAD v4
9	g.99142491A>G	CA043120	TGFBR1	c.599-45A>G (n.599-45A>G) c.611-45A>G (n.611-45A>G) c.380-45A>G (n.380-45A>G) c.368-45A>G (n.368-45A>G) c.602-45A>G (n.602-45A>G) c.806-45A>G (n.806-45A>G) c.575-45A>G (n.575-45A>G) c.818-45A>G (n.818-45A>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9	g.99142491A>T	CA043142	TGFBR1	c.599-45A>T (n.599-45A>T) c.611-45A>T (n.611-45A>T) c.380-45A>T (n.380-45A>T) c.368-45A>T (n.368-45A>T) c.602-45A>T (n.602-45A>T) c.806-45A>T (n.806-45A>T) c.575-45A>T (n.575-45A>T) c.818-45A>T (n.818-45A>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9	g.99142492T>C	CA1867259932	TGFBR1	c.599-44T>C (n.599-44T>C) c.611-44T>C (n.611-44T>C) c.380-44T>C (n.380-44T>C) c.368-44T>C (n.368-44T>C) c.602-44T>C (n.602-44T>C) c.806-44T>C (n.806-44T>C) c.575-44T>C (n.575-44T>C) c.818-44T>C (n.818-44T>C)	dbSNP
9	g.99142492T=	CA1867259931	TGFBR1	c.599-44T= (n.599-44T=) c.611-44T= (n.611-44T=) c.380-44T= (n.380-44T=) c.368-44T= (n.368-44T=) c.602-44T= (n.602-44T=) c.806-44T= (n.806-44T=) c.575-44T= (n.575-44T=) c.818-44T= (n.818-44T=)
9	g.99142495A=	CA1867259933	TGFBR1	c.599-41A= (n.599-41A=) c.611-41A= (n.611-41A=) c.380-41A= (n.380-41A=) c.368-41A= (n.368-41A=) c.602-41A= (n.602-41A=) c.806-41A= (n.806-41A=) c.575-41A= (n.575-41A=) c.818-41A= (n.818-41A=)
9	g.99142495A>C	CA2690965992	TGFBR1	c.599-41A>C (n.599-41A>C) c.611-41A>C (n.611-41A>C) c.380-41A>C (n.380-41A>C) c.368-41A>C (n.368-41A>C) c.602-41A>C (n.602-41A>C) c.806-41A>C (n.806-41A>C) c.575-41A>C (n.575-41A>C) c.818-41A>C (n.818-41A>C)	gnomAD v4
9	g.99142495A>G	CA869138605	TGFBR1	c.599-41A>G (n.599-41A>G) c.611-41A>G (n.611-41A>G) c.380-41A>G (n.380-41A>G) c.368-41A>G (n.368-41A>G) c.602-41A>G (n.602-41A>G) c.806-41A>G (n.806-41A>G) c.575-41A>G (n.575-41A>G) c.818-41A>G (n.818-41A>G)	dbSNP gnomAD v3 gnomAD v4
9	g.99142495A>T	CA2690965993	TGFBR1	c.599-41A>T (n.599-41A>T) c.611-41A>T (n.611-41A>T) c.380-41A>T (n.380-41A>T) c.368-41A>T (n.368-41A>T) c.602-41A>T (n.602-41A>T) c.806-41A>T (n.806-41A>T) c.575-41A>T (n.575-41A>T) c.818-41A>T (n.818-41A>T)	gnomAD v4
9	g.99142496T>A	CA2785270290	TGFBR1	c.599-40T>A (n.599-40T>A) c.611-40T>A (n.611-40T>A) c.380-40T>A (n.380-40T>A) c.368-40T>A (n.368-40T>A) c.602-40T>A (n.602-40T>A) c.806-40T>A (n.806-40T>A) c.575-40T>A (n.575-40T>A) c.818-40T>A (n.818-40T>A)
9	g.99142497G>A	CA1867259935	TGFBR1	c.599-39G>A (n.599-39G>A) c.611-39G>A (n.611-39G>A) c.380-39G>A (n.380-39G>A) c.368-39G>A (n.368-39G>A) c.602-39G>A (n.602-39G>A) c.806-39G>A (n.806-39G>A) c.575-39G>A (n.575-39G>A) c.818-39G>A (n.818-39G>A)	dbSNP
9	g.99142497G=	CA1867259934	TGFBR1	c.599-39G= (n.599-39G=) c.611-39G= (n.611-39G=) c.380-39G= (n.380-39G=) c.368-39G= (n.368-39G=) c.602-39G= (n.602-39G=) c.806-39G= (n.806-39G=) c.575-39G= (n.575-39G=) c.818-39G= (n.818-39G=)
9	g.99142497G>T	CA2579400657	TGFBR1	c.599-39G>T (n.599-39G>T) c.611-39G>T (n.611-39G>T) c.380-39G>T (n.380-39G>T) c.368-39G>T (n.368-39G>T) c.602-39G>T (n.602-39G>T) c.806-39G>T (n.806-39G>T) c.575-39G>T (n.575-39G>T) c.818-39G>T (n.818-39G>T)
9	g.99142498G>A	CA2720302997	TGFBR1	c.599-38G>A (n.599-38G>A) c.611-38G>A (n.611-38G>A) c.380-38G>A (n.380-38G>A) c.368-38G>A (n.368-38G>A) c.602-38G>A (n.602-38G>A) c.806-38G>A (n.806-38G>A) c.575-38G>A (n.575-38G>A) c.818-38G>A (n.818-38G>A)	dbSNP
9	g.99142499T>A	CA2720303016	TGFBR1	c.599-37T>A (n.599-37T>A) c.611-37T>A (n.611-37T>A) c.380-37T>A (n.380-37T>A) c.368-37T>A (n.368-37T>A) c.602-37T>A (n.602-37T>A) c.806-37T>A (n.806-37T>A) c.575-37T>A (n.575-37T>A) c.818-37T>A (n.818-37T>A)	dbSNP
9	g.99142500C>A	CA2690965994	TGFBR1	c.599-36C>A (n.599-36C>A) c.611-36C>A (n.611-36C>A) c.380-36C>A (n.380-36C>A) c.368-36C>A (n.368-36C>A) c.602-36C>A (n.602-36C>A) c.806-36C>A (n.806-36C>A) c.575-36C>A (n.575-36C>A) c.818-36C>A (n.818-36C>A)	gnomAD v4
9	g.99142500C=	CA1867259936	TGFBR1	c.599-36C= (n.599-36C=) c.611-36C= (n.611-36C=) c.380-36C= (n.380-36C=) c.368-36C= (n.368-36C=) c.602-36C= (n.602-36C=) c.806-36C= (n.806-36C=) c.575-36C= (n.575-36C=) c.818-36C= (n.818-36C=)
9	g.99142500C>T	CA196891440	TGFBR1	c.599-36C>T (n.599-36C>T) c.611-36C>T (n.611-36C>T) c.380-36C>T (n.380-36C>T) c.368-36C>T (n.368-36C>T) c.602-36C>T (n.602-36C>T) c.806-36C>T (n.806-36C>T) c.575-36C>T (n.575-36C>T) c.818-36C>T (n.818-36C>T)	dbSNP
9	g.99142501T>A	CA2690965995	TGFBR1	c.599-35T>A (n.599-35T>A) c.611-35T>A (n.611-35T>A) c.380-35T>A (n.380-35T>A) c.368-35T>A (n.368-35T>A) c.602-35T>A (n.602-35T>A) c.806-35T>A (n.806-35T>A) c.575-35T>A (n.575-35T>A) c.818-35T>A (n.818-35T>A)	gnomAD v4
9	g.99142505G>A	CA2690965996	TGFBR1	c.599-31G>A (n.599-31G>A) c.611-31G>A (n.611-31G>A) c.380-31G>A (n.380-31G>A) c.368-31G>A (n.368-31G>A) c.602-31G>A (n.602-31G>A) c.806-31G>A (n.806-31G>A) c.575-31G>A (n.575-31G>A) c.818-31G>A (n.818-31G>A)	gnomAD v4
9	g.99142505_99142506delinsGC	CA1867259937	TGFBR1	c.599-31_599-30delinsGC (n.599-31_599-30delinsGC) c.611-31_611-30delinsGC (n.611-31_611-30delinsGC) c.380-31_380-30delinsGC (n.380-31_380-30delinsGC) c.368-31_368-30delinsGC (n.368-31_368-30delinsGC) c.602-31_602-30delinsGC (n.602-31_602-30delinsGC) c.806-31_806-30delinsGC (n.806-31_806-30delinsGC) c.575-31_575-30delinsGC (n.575-31_575-30delinsGC) c.818-31_818-30delinsGC (n.818-31_818-30delinsGC)
9	g.99142506C=	CA1867259939	TGFBR1	c.599-30C= (n.599-30C=) c.611-30C= (n.611-30C=) c.380-30C= (n.380-30C=) c.368-30C= (n.368-30C=) c.602-30C= (n.602-30C=) c.806-30C= (n.806-30C=) c.575-30C= (n.575-30C=) c.818-30C= (n.818-30C=)
9	g.99142506C>G	CA589361876	TGFBR1	c.599-30C>G (n.599-30C>G) c.611-30C>G (n.611-30C>G) c.380-30C>G (n.380-30C>G) c.368-30C>G (n.368-30C>G) c.602-30C>G (n.602-30C>G) c.806-30C>G (n.806-30C>G) c.575-30C>G (n.575-30C>G) c.818-30C>G (n.818-30C>G)	dbSNP gnomAD v2 gnomAD v4
9	g.99142506C>T	CA043097	TGFBR1	c.599-30C>T (n.599-30C>T) c.611-30C>T (n.611-30C>T) c.380-30C>T (n.380-30C>T) c.368-30C>T (n.368-30C>T) c.602-30C>T (n.602-30C>T) c.806-30C>T (n.806-30C>T) c.575-30C>T (n.575-30C>T) c.818-30C>T (n.818-30C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9	g.99142508dup	CA2579400658	TGFBR1	c.599-28dup (n.599-28dup) c.611-28dup (n.611-28dup) c.380-28dup (n.380-28dup) c.368-28dup (n.368-28dup) c.602-28dup (n.602-28dup) c.806-28dup (n.806-28dup) c.575-28dup (n.575-28dup) c.818-28dup (n.818-28dup)
9	g.99142508del	CA1867259938	TGFBR1	c.599-28del (n.599-28del) c.611-28del (n.611-28del) c.380-28del (n.380-28del) c.368-28del (n.368-28del) c.602-28del (n.602-28del) c.806-28del (n.806-28del) c.575-28del (n.575-28del) c.818-28del (n.818-28del)	dbSNP
9	g.99142507C>T	CA2690965997	TGFBR1	c.599-29C>T (n.599-29C>T) c.611-29C>T (n.611-29C>T) c.380-29C>T (n.380-29C>T) c.368-29C>T (n.368-29C>T) c.602-29C>T (n.602-29C>T) c.806-29C>T (n.806-29C>T) c.575-29C>T (n.575-29C>T) c.818-29C>T (n.818-29C>T)	gnomAD v4
9	g.99142510A=	CA1867259940	TGFBR1	c.599-26A= (n.599-26A=) c.611-26A= (n.611-26A=) c.380-26A= (n.380-26A=) c.368-26A= (n.368-26A=) c.602-26A= (n.602-26A=) c.806-26A= (n.806-26A=) c.575-26A= (n.575-26A=) c.818-26A= (n.818-26A=)
9	g.99142510A>G	CA1127252131	TGFBR1	c.599-26A>G (n.599-26A>G) c.611-26A>G (n.611-26A>G) c.380-26A>G (n.380-26A>G) c.368-26A>G (n.368-26A>G) c.602-26A>G (n.602-26A>G) c.806-26A>G (n.806-26A>G) c.575-26A>G (n.575-26A>G) c.818-26A>G (n.818-26A>G)	dbSNP gnomAD v3 gnomAD v4
9	g.99142511C>A	CA2690965998	TGFBR1	c.599-25C>A (n.599-25C>A) c.611-25C>A (n.611-25C>A) c.380-25C>A (n.380-25C>A) c.368-25C>A (n.368-25C>A) c.602-25C>A (n.602-25C>A) c.806-25C>A (n.806-25C>A) c.575-25C>A (n.575-25C>A) c.818-25C>A (n.818-25C>A)	gnomAD v4
9	g.99142512C>A	CA2690965999	TGFBR1	c.599-24C>A (n.599-24C>A) c.611-24C>A (n.611-24C>A) c.380-24C>A (n.380-24C>A) c.368-24C>A (n.368-24C>A) c.602-24C>A (n.602-24C>A) c.806-24C>A (n.806-24C>A) c.575-24C>A (n.575-24C>A) c.818-24C>A (n.818-24C>A)	gnomAD v4
9	g.99142512C=	CA1867259941	TGFBR1	c.599-24C= (n.599-24C=) c.611-24C= (n.611-24C=) c.380-24C= (n.380-24C=) c.368-24C= (n.368-24C=) c.602-24C= (n.602-24C=) c.806-24C= (n.806-24C=) c.575-24C= (n.575-24C=) c.818-24C= (n.818-24C=)
9	g.99142512C>T	CA043086	TGFBR1	c.599-24C>T (n.599-24C>T) c.611-24C>T (n.611-24C>T) c.380-24C>T (n.380-24C>T) c.368-24C>T (n.368-24C>T) c.602-24C>T (n.602-24C>T) c.806-24C>T (n.806-24C>T) c.575-24C>T (n.575-24C>T) c.818-24C>T (n.818-24C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9	g.99142513G>A	CA043075	TGFBR1	c.599-23G>A (n.599-23G>A) c.611-23G>A (n.611-23G>A) c.380-23G>A (n.380-23G>A) c.368-23G>A (n.368-23G>A) c.602-23G>A (n.602-23G>A) c.806-23G>A (n.806-23G>A) c.575-23G>A (n.575-23G>A) c.818-23G>A (n.818-23G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9	g.99142513G>C	CA2720050512	TGFBR1	c.599-23G>C (n.599-23G>C) c.611-23G>C (n.611-23G>C) c.380-23G>C (n.380-23G>C) c.368-23G>C (n.368-23G>C) c.602-23G>C (n.602-23G>C) c.806-23G>C (n.806-23G>C) c.575-23G>C (n.575-23G>C) c.818-23G>C (n.818-23G>C)	dbSNP
9	g.99142513G=	CA1867259942	TGFBR1	c.599-23G= (n.599-23G=) c.611-23G= (n.611-23G=) c.380-23G= (n.380-23G=) c.368-23G= (n.368-23G=) c.602-23G= (n.602-23G=) c.806-23G= (n.806-23G=) c.575-23G= (n.575-23G=) c.818-23G= (n.818-23G=)
9	g.99142514A>T	CA2579400659	TGFBR1	c.599-22A>T (n.599-22A>T) c.611-22A>T (n.611-22A>T) c.380-22A>T (n.380-22A>T) c.368-22A>T (n.368-22A>T) c.602-22A>T (n.602-22A>T) c.806-22A>T (n.806-22A>T) c.575-22A>T (n.575-22A>T) c.818-22A>T (n.818-22A>T)
9	g.99142516dup	CA196891468	TGFBR1	c.599-20dup (n.599-20dup) c.611-20dup (n.611-20dup) c.380-20dup (n.380-20dup) c.368-20dup (n.368-20dup) c.602-20dup (n.602-20dup) c.806-20dup (n.806-20dup) c.575-20dup (n.575-20dup) c.818-20dup (n.818-20dup)	dbSNP
9	g.99142515A>T	CA2690966000	TGFBR1	c.599-21A>T (n.599-21A>T) c.611-21A>T (n.611-21A>T) c.380-21A>T (n.380-21A>T) c.368-21A>T (n.368-21A>T) c.602-21A>T (n.602-21A>T) c.806-21A>T (n.806-21A>T) c.575-21A>T (n.575-21A>T) c.818-21A>T (n.818-21A>T)	gnomAD v4
9	g.99142517T>C	CA2690966001	TGFBR1	c.599-19T>C (n.599-19T>C) c.611-19T>C (n.611-19T>C) c.380-19T>C (n.380-19T>C) c.368-19T>C (n.368-19T>C) c.602-19T>C (n.602-19T>C) c.806-19T>C (n.806-19T>C) c.575-19T>C (n.575-19T>C) c.818-19T>C (n.818-19T>C)	gnomAD v4
9	g.99142521_99142529del	CA2499220110	TGFBR1	c.599-15_599-7del (n.599-15_599-7del) c.611-15_611-7del (n.611-15_611-7del) c.380-15_380-7del (n.380-15_380-7del) c.368-15_368-7del (n.368-15_368-7del) c.602-15_602-7del (n.602-15_602-7del) c.806-15_806-7del (n.806-15_806-7del) c.575-15_575-7del (n.575-15_575-7del) c.818-15_818-7del (n.818-15_818-7del)	ClinVar dbSNP
9	g.99142518G>A	CA2690966002	TGFBR1	c.599-18G>A (n.599-18G>A) c.611-18G>A (n.611-18G>A) c.380-18G>A (n.380-18G>A) c.368-18G>A (n.368-18G>A) c.602-18G>A (n.602-18G>A) c.806-18G>A (n.806-18G>A) c.575-18G>A (n.575-18G>A) c.818-18G>A (n.818-18G>A)	gnomAD v4
9	g.99142520T>G	CA043062	TGFBR1	c.599-16T>G (n.599-16T>G) c.611-16T>G (n.611-16T>G) c.380-16T>G (n.380-16T>G) c.368-16T>G (n.368-16T>G) c.602-16T>G (n.602-16T>G) c.806-16T>G (n.806-16T>G) c.575-16T>G (n.575-16T>G) c.818-16T>G (n.818-16T>G)	dbSNP ExAC gnomAD v2
9	g.99142520T=	CA1867259943	TGFBR1	c.599-16T= (n.599-16T=) c.611-16T= (n.611-16T=) c.380-16T= (n.380-16T=) c.368-16T= (n.368-16T=) c.602-16T= (n.602-16T=) c.806-16T= (n.806-16T=) c.575-16T= (n.575-16T=) c.818-16T= (n.818-16T=)
9	g.99142522A=	CA1867259944	TGFBR1	c.599-14A= (n.599-14A=) c.611-14A= (n.611-14A=) c.380-14A= (n.380-14A=) c.368-14A= (n.368-14A=) c.602-14A= (n.602-14A=) c.806-14A= (n.806-14A=) c.575-14A= (n.575-14A=) c.818-14A= (n.818-14A=)
9	g.99142522A>G	CA589361877	TGFBR1	c.599-14A>G (n.599-14A>G) c.611-14A>G (n.611-14A>G) c.380-14A>G (n.380-14A>G) c.368-14A>G (n.368-14A>G) c.602-14A>G (n.602-14A>G) c.806-14A>G (n.806-14A>G) c.575-14A>G (n.575-14A>G) c.818-14A>G (n.818-14A>G)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9	g.99142523T>C	CA2690966003	TGFBR1	c.599-13T>C (n.599-13T>C) c.611-13T>C (n.611-13T>C) c.380-13T>C (n.380-13T>C) c.368-13T>C (n.368-13T>C) c.602-13T>C (n.602-13T>C) c.806-13T>C (n.806-13T>C) c.575-13T>C (n.575-13T>C) c.818-13T>C (n.818-13T>C)	gnomAD v4
9	g.99142523_99142525delinsTTC	CA1867259946	TGFBR1	c.599-13_599-11delinsTTC (n.599-13_599-11delinsTTC) c.611-13_611-11delinsTTC (n.611-13_611-11delinsTTC) c.380-13_380-11delinsTTC (n.380-13_380-11delinsTTC) c.368-13_368-11delinsTTC (n.368-13_368-11delinsTTC) c.602-13_602-11delinsTTC (n.602-13_602-11delinsTTC) c.806-13_806-11delinsTTC (n.806-13_806-11delinsTTC) c.575-13_575-11delinsTTC (n.575-13_575-11delinsTTC) c.818-13_818-11delinsTTC (n.818-13_818-11delinsTTC)
9	g.99142525_99142526del	CA1127252133	TGFBR1	c.599-11_599-10del (n.599-11_599-10del) c.611-11_611-10del (n.611-11_611-10del) c.380-11_380-10del (n.380-11_380-10del) c.368-11_368-10del (n.368-11_368-10del) c.602-11_602-10del (n.602-11_602-10del) c.806-11_806-10del (n.806-11_806-10del) c.575-11_575-10del (n.575-11_575-10del) c.818-11_818-10del (n.818-11_818-10del)	dbSNP gnomAD v3 gnomAD v4
9	g.99142525C=	CA1867259947	TGFBR1	c.599-11C= (n.599-11C=) c.611-11C= (n.611-11C=) c.380-11C= (n.380-11C=) c.368-11C= (n.368-11C=) c.602-11C= (n.602-11C=) c.806-11C= (n.806-11C=) c.575-11C= (n.575-11C=) c.818-11C= (n.818-11C=)
9	g.99142525C>T	CA043052	TGFBR1	c.599-11C>T (n.599-11C>T) c.611-11C>T (n.611-11C>T) c.380-11C>T (n.380-11C>T) c.368-11C>T (n.368-11C>T) c.602-11C>T (n.602-11C>T) c.806-11C>T (n.806-11C>T) c.575-11C>T (n.575-11C>T) c.818-11C>T (n.818-11C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
9	g.99142526T>C	CA2690966004	TGFBR1	c.599-10T>C (n.599-10T>C) c.611-10T>C (n.611-10T>C) c.380-10T>C (n.380-10T>C) c.368-10T>C (n.368-10T>C) c.602-10T>C (n.602-10T>C) c.806-10T>C (n.806-10T>C) c.575-10T>C (n.575-10T>C) c.818-10T>C (n.818-10T>C)	gnomAD v4
9	g.99142531del	CA2690966005	TGFBR1	c.599-5del (n.599-5del) c.611-5del (n.611-5del) c.380-5del (n.380-5del) c.368-5del (n.368-5del) c.602-5del (n.602-5del) c.806-5del (n.806-5del) c.575-5del (n.575-5del) c.818-5del (n.818-5del)	gnomAD v4
9	g.99142529T>C	CA2579400660	TGFBR1	c.599-7T>C (n.599-7T>C) c.611-7T>C (n.611-7T>C) c.380-7T>C (n.380-7T>C) c.368-7T>C (n.368-7T>C) c.602-7T>C (n.602-7T>C) c.806-7T>C (n.806-7T>C) c.575-7T>C (n.575-7T>C) c.818-7T>C (n.818-7T>C)
9	g.99142532A>G	CA2690966006	TGFBR1	c.599-4A>G (n.599-4A>G) c.611-4A>G (n.611-4A>G) c.380-4A>G (n.380-4A>G) c.368-4A>G (n.368-4A>G) c.602-4A>G (n.602-4A>G) c.806-4A>G (n.806-4A>G) c.575-4A>G (n.575-4A>G) c.818-4A>G (n.818-4A>G)	gnomAD v4
9	g.99142533C>T	CA2720303338	TGFBR1	c.599-3C>T (n.599-3C>T) c.611-3C>T (n.611-3C>T) c.380-3C>T (n.380-3C>T) c.368-3C>T (n.368-3C>T) c.602-3C>T (n.602-3C>T) c.806-3C>T (n.806-3C>T) c.575-3C>T (n.575-3C>T) c.818-3C>T (n.818-3C>T)	ClinVar dbSNP
9	g.99142534A=	CA1867259948	TGFBR1	c.599-2A= (n.599-2A=) c.611-2A= (n.611-2A=) c.380-2A= (n.380-2A=) c.368-2A= (n.368-2A=) c.602-2A= (n.602-2A=) c.806-2A= (n.806-2A=) c.575-2A= (n.575-2A=) c.818-2A= (n.818-2A=)
9	g.99142534A>C	CA008874	TGFBR1	c.599-2A>C (n.599-2A>C) c.611-2A>C (n.611-2A>C) c.380-2A>C (n.380-2A>C) c.368-2A>C (n.368-2A>C) c.602-2A>C (n.602-2A>C) c.806-2A>C (n.806-2A>C) c.575-2A>C (n.575-2A>C) c.818-2A>C (n.818-2A>C)	ClinVar dbSNP
9	g.99142534A>G	CA374230478	TGFBR1	c.599-2A>G (n.599-2A>G) c.611-2A>G (n.611-2A>G) c.380-2A>G (n.380-2A>G) c.368-2A>G (n.368-2A>G) c.602-2A>G (n.602-2A>G) c.806-2A>G (n.806-2A>G) c.575-2A>G (n.575-2A>G) c.818-2A>G (n.818-2A>G)
9	g.99142534A>T	CA374230479	TGFBR1	c.599-2A>T (n.599-2A>T) c.611-2A>T (n.611-2A>T) c.380-2A>T (n.380-2A>T) c.368-2A>T (n.368-2A>T) c.602-2A>T (n.602-2A>T) c.806-2A>T (n.806-2A>T) c.575-2A>T (n.575-2A>T) c.818-2A>T (n.818-2A>T)
9	g.99142535G>A	CA374230482	TGFBR1	c.599-1G>A (n.599-1G>A) c.611-1G>A (n.611-1G>A) c.380-1G>A (n.380-1G>A) c.368-1G>A (n.368-1G>A) c.602-1G>A (n.602-1G>A) c.806-1G>A (n.806-1G>A) c.575-1G>A (n.575-1G>A) c.818-1G>A (n.818-1G>A)
9	g.99142535G>C	CA374230481	TGFBR1	c.599-1G>C (n.599-1G>C) c.611-1G>C (n.611-1G>C) c.380-1G>C (n.380-1G>C) c.368-1G>C (n.368-1G>C) c.602-1G>C (n.602-1G>C) c.806-1G>C (n.806-1G>C) c.575-1G>C (n.575-1G>C) c.818-1G>C (n.818-1G>C)
9	g.99142535G>T	CA374230480	TGFBR1	c.599-1G>T (n.599-1G>T) c.611-1G>T (n.611-1G>T) c.380-1G>T (n.380-1G>T) c.368-1G>T (n.368-1G>T) c.602-1G>T (n.602-1G>T) c.806-1G>T (n.806-1G>T) c.575-1G>T (n.575-1G>T) c.818-1G>T (n.818-1G>T)
9	g.99142536A=	CA1867259950	TGFBR1	c.599A= (p.Asp200=) c.611A= (p.Asp204=) c.380A= (p.Asp127=) c.368A= (p.Asp123=) c.602A= (n.602A=) c.806A= (p.Asp269=) c.575A= (p.Asp192=) c.818A= (p.Asp273=)
9	g.99142536A>C	CA374230483	TGFBR1	c.599A>C (p.Asp200Ala) c.611A>C (p.Asp204Ala) c.380A>C (p.Asp127Ala) c.368A>C (p.Asp123Ala) c.602A>C (n.602A>C) c.806A>C (p.Asp269Ala) c.575A>C (p.Asp192Ala) c.818A>C (p.Asp273Ala)
9	g.99142536A>G	CA374230484	TGFBR1	c.599A>G (p.Asp200Gly) c.611A>G (p.Asp204Gly) c.380A>G (p.Asp127Gly) c.368A>G (p.Asp123Gly) c.602A>G (n.602A>G) c.806A>G (p.Asp269Gly) c.575A>G (p.Asp192Gly) c.818A>G (p.Asp273Gly)	ClinVar
9	g.99142536A>T	CA374230485	TGFBR1	c.599A>T (p.Asp200Val) c.611A>T (p.Asp204Val) c.380A>T (p.Asp127Val) c.368A>T (p.Asp123Val) c.602A>T (n.602A>T) c.806A>T (p.Asp269Val) c.575A>T (p.Asp192Val) c.818A>T (p.Asp273Val)
9	g.99142536_99142537insAT	CA1127252136	TGFBR1	c.599_600insAT (p.Asp200GlufsTer25) c.611_612insAT (p.Asp204GlufsTer25) c.380_381insAT (p.Asp127GlufsTer25) c.368_369insAT (p.Asp123GlufsTer25) c.602_603insAT (n.602_603insAT) c.806_807insAT (p.Asp269GlufsTer25) c.575_576insAT (p.Asp192GlufsTer25) c.818_819insAT (p.Asp273GlufsTer25)	dbSNP gnomAD v3 gnomAD v4
9	g.99142537C>A	CA374230486	TGFBR1	c.600C>A (p.Asp200Glu) c.612C>A (p.Asp204Glu) c.381C>A (p.Asp127Glu) c.369C>A (p.Asp123Glu) c.603C>A (n.603C>A) c.807C>A (p.Asp269Glu) c.576C>A (p.Asp192Glu) c.819C>A (p.Asp273Glu)
9	g.99142537C=	CA1867259951	TGFBR1	c.600C= (p.Asp200=) c.612C= (p.Asp204=) c.381C= (p.Asp127=) c.369C= (p.Asp123=) c.603C= (n.603C=) c.807C= (p.Asp269=) c.576C= (p.Asp192=) c.819C= (p.Asp273=)
9	g.99142537C>G	CA374230487	TGFBR1	c.600C>G (p.Asp200Glu) c.612C>G (p.Asp204Glu) c.381C>G (p.Asp127Glu) c.369C>G (p.Asp123Glu) c.603C>G (n.603C>G) c.807C>G (p.Asp269Glu) c.576C>G (p.Asp192Glu) c.819C>G (p.Asp273Glu)
9	g.99142537C>T	CA466434390	TGFBR1	c.600C>T (p.Asp200=) c.612C>T (p.Asp204=) c.381C>T (p.Asp127=) c.369C>T (p.Asp123=) c.603C>T (n.603C>T) c.807C>T (p.Asp269=) c.576C>T (p.Asp192=) c.819C>T (p.Asp273=)	dbSNP gnomAD v3 gnomAD v4
9	g.99142538A>C	CA374230488	TGFBR1	c.601A>C (p.Asn201His) c.613A>C (p.Asn205His) c.382A>C (p.Asn128His) c.370A>C (p.Asn124His) c.604A>C (n.604A>C) c.808A>C (p.Asn270His) c.577A>C (p.Asn193His) c.820A>C (p.Asn274His)
9	g.99142538A>G	CA374230489	TGFBR1	c.601A>G (p.Asn201Asp) c.613A>G (p.Asn205Asp) c.382A>G (p.Asn128Asp) c.370A>G (p.Asn124Asp) c.604A>G (n.604A>G) c.808A>G (p.Asn270Asp) c.577A>G (p.Asn193Asp) c.820A>G (p.Asn274Asp)	ClinVar
9	g.99142538A>T	CA374230490	TGFBR1	c.601A>T (p.Asn201Tyr) c.613A>T (p.Asn205Tyr) c.382A>T (p.Asn128Tyr) c.370A>T (p.Asn124Tyr) c.604A>T (n.604A>T) c.808A>T (p.Asn270Tyr) c.577A>T (p.Asn193Tyr) c.820A>T (p.Asn274Tyr)
9	g.99142539A=	CA1867259952	TGFBR1	c.602A= (p.Asn201=) c.614A= (p.Asn205=) c.383A= (p.Asn128=) c.371A= (p.Asn124=) c.605A= (n.605A=) c.809A= (p.Asn270=) c.578A= (p.Asn193=) c.821A= (p.Asn274=)
9	g.99142539A>C	CA374230491	TGFBR1	c.602A>C (p.Asn201Thr) c.614A>C (p.Asn205Thr) c.383A>C (p.Asn128Thr) c.371A>C (p.Asn124Thr) c.605A>C (n.605A>C) c.809A>C (p.Asn270Thr) c.578A>C (p.Asn193Thr) c.821A>C (p.Asn274Thr)
9	g.99142539A>G	CA043182	TGFBR1	c.602A>G (p.Asn201Ser) c.614A>G (p.Asn205Ser) c.383A>G (p.Asn128Ser) c.371A>G (p.Asn124Ser) c.605A>G (n.605A>G) c.809A>G (p.Asn270Ser) c.578A>G (p.Asn193Ser) c.821A>G (p.Asn274Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9	g.99142539A>T	CA374230492	TGFBR1	c.602A>T (p.Asn201Ile) c.614A>T (p.Asn205Ile) c.383A>T (p.Asn128Ile) c.371A>T (p.Asn124Ile) c.605A>T (n.605A>T) c.809A>T (p.Asn270Ile) c.578A>T (p.Asn193Ile) c.821A>T (p.Asn274Ile)
9	g.99142539_99142540insCT	CA1127252148	TGFBR1	c.602_603insCT (p.Gly202LeufsTer23) c.614_615insCT (p.Gly206LeufsTer23) c.383_384insCT (p.Gly129LeufsTer23) c.371_372insCT (p.Gly125LeufsTer23) c.605_606insCT (n.605_606insCT) c.809_810insCT (p.Gly271LeufsTer23) c.578_579insCT (p.Gly194LeufsTer23) c.821_822insCT (p.Gly275LeufsTer23)	dbSNP gnomAD v3 gnomAD v4
9	g.99142540T>A	CA374230494	TGFBR1	c.603T>A (p.Asn201Lys) c.615T>A (p.Asn205Lys) c.384T>A (p.Asn128Lys) c.372T>A (p.Asn124Lys) c.606T>A (n.606T>A) c.810T>A (p.Asn270Lys) c.579T>A (p.Asn193Lys) c.822T>A (p.Asn274Lys)
9	g.99142540T>C	CA043200	TGFBR1	c.603T>C (p.Asn201=) c.615T>C (p.Asn205=) c.384T>C (p.Asn128=) c.372T>C (p.Asn124=) c.606T>C (n.606T>C) c.810T>C (p.Asn270=) c.579T>C (p.Asn193=) c.822T>C (p.Asn274=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9	g.99142540T>G	CA374230493	TGFBR1	c.603T>G (p.Asn201Lys) c.615T>G (p.Asn205Lys) c.384T>G (p.Asn128Lys) c.372T>G (p.Asn124Lys) c.606T>G (n.606T>G) c.810T>G (p.Asn270Lys) c.579T>G (p.Asn193Lys) c.822T>G (p.Asn274Lys)
9	g.99142540T=	CA1867259954	TGFBR1	c.603T= (p.Asn201=) c.615T= (p.Asn205=) c.384T= (p.Asn128=) c.372T= (p.Asn124=) c.606T= (n.606T=) c.810T= (p.Asn270=) c.579T= (p.Asn193=) c.822T= (p.Asn274=)
9	g.99142541G>A	CA374230495	TGFBR1	c.604G>A (p.Gly202Ser) c.616G>A (p.Gly206Ser) c.385G>A (p.Gly129Ser) c.373G>A (p.Gly125Ser) c.607G>A (n.607G>A) c.811G>A (p.Gly271Ser) c.580G>A (p.Gly194Ser) c.823G>A (p.Gly275Ser)
9	g.99142541G>C	CA374230496	TGFBR1	c.604G>C (p.Gly202Arg) c.616G>C (p.Gly206Arg) c.385G>C (p.Gly129Arg) c.373G>C (p.Gly125Arg) c.607G>C (n.607G>C) c.811G>C (p.Gly271Arg) c.580G>C (p.Gly194Arg) c.823G>C (p.Gly275Arg)
9	g.99142541G>T	CA374230497	TGFBR1	c.604G>T (p.Gly202Cys) c.616G>T (p.Gly206Cys) c.385G>T (p.Gly129Cys) c.373G>T (p.Gly125Cys) c.607G>T (n.607G>T) c.811G>T (p.Gly271Cys) c.580G>T (p.Gly194Cys) c.823G>T (p.Gly275Cys)
9	g.99142542G>A	CA374230498	TGFBR1	c.605G>A (p.Gly202Asp) c.617G>A (p.Gly206Asp) c.386G>A (p.Gly129Asp) c.374G>A (p.Gly125Asp) c.608G>A (n.608G>A) c.812G>A (p.Gly271Asp) c.581G>A (p.Gly194Asp) c.824G>A (p.Gly275Asp)	gnomAD v4
9	g.99142542G>C	CA374230499	TGFBR1	c.605G>C (p.Gly202Ala) c.617G>C (p.Gly206Ala) c.386G>C (p.Gly129Ala) c.374G>C (p.Gly125Ala) c.608G>C (n.608G>C) c.812G>C (p.Gly271Ala) c.581G>C (p.Gly194Ala) c.824G>C (p.Gly275Ala)
9	g.99142542G>T	CA374230500	TGFBR1	c.605G>T (p.Gly202Val) c.617G>T (p.Gly206Val) c.386G>T (p.Gly129Val) c.374G>T (p.Gly125Val) c.608G>T (n.608G>T) c.812G>T (p.Gly271Val) c.581G>T (p.Gly194Val) c.824G>T (p.Gly275Val)
9	g.99142543T>A	CA466434396	TGFBR1	c.606T>A (p.Gly202=) c.618T>A (p.Gly206=) c.387T>A (p.Gly129=) c.375T>A (p.Gly125=) c.609T>A (n.609T>A) c.813T>A (p.Gly271=) c.582T>A (p.Gly194=) c.825T>A (p.Gly275=)
9	g.99142543T>C	CA043219	TGFBR1	c.606T>C (p.Gly202=) c.618T>C (p.Gly206=) c.387T>C (p.Gly129=) c.375T>C (p.Gly125=) c.609T>C (n.609T>C) c.813T>C (p.Gly271=) c.582T>C (p.Gly194=) c.825T>C (p.Gly275=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9	g.99142543T>G	CA466434399	TGFBR1	c.606T>G (p.Gly202=) c.618T>G (p.Gly206=) c.387T>G (p.Gly129=) c.375T>G (p.Gly125=) c.609T>G (n.609T>G) c.813T>G (p.Gly271=) c.582T>G (p.Gly194=) c.825T>G (p.Gly275=)
9	g.99142543T=	CA1867259957	TGFBR1	c.606T= (p.Gly202=) c.618T= (p.Gly206=) c.387T= (p.Gly129=) c.375T= (p.Gly125=) c.609T= (n.609T=) c.813T= (p.Gly271=) c.582T= (p.Gly194=) c.825T= (p.Gly275=)
9	g.99142544A>C	CA374230501	TGFBR1	c.607A>C (p.Thr203Pro) c.619A>C (p.Thr207Pro) c.388A>C (p.Thr130Pro) c.376A>C (p.Thr126Pro) c.610A>C (n.610A>C) c.814A>C (p.Thr272Pro) c.583A>C (p.Thr195Pro) c.826A>C (p.Thr276Pro)	ClinVar dbSNP
9	g.99142544A>G	CA374230502	TGFBR1	c.607A>G (p.Thr203Ala) c.619A>G (p.Thr207Ala) c.388A>G (p.Thr130Ala) c.376A>G (p.Thr126Ala) c.610A>G (n.610A>G) c.814A>G (p.Thr272Ala) c.583A>G (p.Thr195Ala) c.826A>G (p.Thr276Ala)
9	g.99142544A>T	CA374230503	TGFBR1	c.607A>T (p.Thr203Ser) c.619A>T (p.Thr207Ser) c.388A>T (p.Thr130Ser) c.376A>T (p.Thr126Ser) c.610A>T (n.610A>T) c.814A>T (p.Thr272Ser) c.583A>T (p.Thr195Ser) c.826A>T (p.Thr276Ser)
9	g.99142545C>A	CA374230504	TGFBR1	c.608C>A (p.Thr203Asn) c.620C>A (p.Thr207Asn) c.389C>A (p.Thr130Asn) c.377C>A (p.Thr126Asn) c.611C>A (n.611C>A) c.815C>A (p.Thr272Asn) c.584C>A (p.Thr195Asn) c.827C>A (p.Thr276Asn)
9	g.99142545C>G	CA374230505	TGFBR1	c.608C>G (p.Thr203Ser) c.620C>G (p.Thr207Ser) c.389C>G (p.Thr130Ser) c.377C>G (p.Thr126Ser) c.611C>G (n.611C>G) c.815C>G (p.Thr272Ser) c.584C>G (p.Thr195Ser) c.827C>G (p.Thr276Ser)
9	g.99142545C>T	CA374230506	TGFBR1	c.608C>T (p.Thr203Ile) c.620C>T (p.Thr207Ile) c.389C>T (p.Thr130Ile) c.377C>T (p.Thr126Ile) c.611C>T (n.611C>T) c.815C>T (p.Thr272Ile) c.584C>T (p.Thr195Ile) c.827C>T (p.Thr276Ile)	dbSNP
9	g.99142546T>A	CA466434401	TGFBR1	c.609T>A (p.Thr203=) c.621T>A (p.Thr207=) c.390T>A (p.Thr130=) c.378T>A (p.Thr126=) c.612T>A (n.612T>A) c.816T>A (p.Thr272=) c.585T>A (p.Thr195=) c.828T>A (p.Thr276=)	ClinVar
9	g.99142546T>C	CA466434402	TGFBR1	c.609T>C (p.Thr203=) c.621T>C (p.Thr207=) c.390T>C (p.Thr130=) c.378T>C (p.Thr126=) c.612T>C (n.612T>C) c.816T>C (p.Thr272=) c.585T>C (p.Thr195=) c.828T>C (p.Thr276=)	ClinVar dbSNP gnomAD v3 gnomAD v4
9	g.99142546T>G	CA466434404	TGFBR1	c.609T>G (p.Thr203=) c.621T>G (p.Thr207=) c.390T>G (p.Thr130=) c.378T>G (p.Thr126=) c.612T>G (n.612T>G) c.816T>G (p.Thr272=) c.585T>G (p.Thr195=) c.828T>G (p.Thr276=)
9	g.99142546T=	CA1867259959	TGFBR1	c.609T= (p.Thr203=) c.621T= (p.Thr207=) c.390T= (p.Thr130=) c.378T= (p.Thr126=) c.612T= (n.612T=) c.816T= (p.Thr272=) c.585T= (p.Thr195=) c.828T= (p.Thr276=)
9	g.99142547T>A	CA374230508	TGFBR1	c.610T>A (p.Trp204Arg) c.622T>A (p.Trp208Arg) c.391T>A (p.Trp131Arg) c.379T>A (p.Trp127Arg) c.613T>A (n.613T>A) c.817T>A (p.Trp273Arg) c.586T>A (p.Trp196Arg) c.829T>A (p.Trp277Arg)
9	g.99142547T>C	CA374230509	TGFBR1	c.610T>C (p.Trp204Arg) c.622T>C (p.Trp208Arg) c.391T>C (p.Trp131Arg) c.379T>C (p.Trp127Arg) c.613T>C (n.613T>C) c.817T>C (p.Trp273Arg) c.586T>C (p.Trp196Arg) c.829T>C (p.Trp277Arg)
9	g.99142547T>G	CA374230507	TGFBR1	c.610T>G (p.Trp204Gly) c.622T>G (p.Trp208Gly) c.391T>G (p.Trp131Gly) c.379T>G (p.Trp127Gly) c.613T>G (n.613T>G) c.817T>G (p.Trp273Gly) c.586T>G (p.Trp196Gly) c.829T>G (p.Trp277Gly)
9	g.99142548G>A	CA374230510	TGFBR1	c.611G>A (p.Trp204Ter) c.623G>A (p.Trp208Ter) c.392G>A (p.Trp131Ter) c.380G>A (p.Trp127Ter) c.614G>A (n.614G>A) c.818G>A (p.Trp273Ter) c.587G>A (p.Trp196Ter) c.830G>A (p.Trp277Ter)
9	g.99142548G>C	CA374230511	TGFBR1	c.611G>C (p.Trp204Ser) c.623G>C (p.Trp208Ser) c.392G>C (p.Trp131Ser) c.380G>C (p.Trp127Ser) c.614G>C (n.614G>C) c.818G>C (p.Trp273Ser) c.587G>C (p.Trp196Ser) c.830G>C (p.Trp277Ser)
9	g.99142548G>T	CA374230512	TGFBR1	c.611G>T (p.Trp204Leu) c.623G>T (p.Trp208Leu) c.392G>T (p.Trp131Leu) c.380G>T (p.Trp127Leu) c.614G>T (n.614G>T) c.818G>T (p.Trp273Leu) c.587G>T (p.Trp196Leu) c.830G>T (p.Trp277Leu)
9	g.99142549G>A	CA374230513	TGFBR1	c.612G>A (p.Trp204Ter) c.624G>A (p.Trp208Ter) c.393G>A (p.Trp131Ter) c.381G>A (p.Trp127Ter) c.615G>A (n.615G>A) c.819G>A (p.Trp273Ter) c.588G>A (p.Trp196Ter) c.831G>A (p.Trp277Ter)
9	g.99142549G>C	CA374230514	TGFBR1	c.612G>C (p.Trp204Cys) c.624G>C (p.Trp208Cys) c.393G>C (p.Trp131Cys) c.381G>C (p.Trp127Cys) c.615G>C (n.615G>C) c.819G>C (p.Trp273Cys) c.588G>C (p.Trp196Cys) c.831G>C (p.Trp277Cys)
9	g.99142549G>T	CA374230515	TGFBR1	c.612G>T (p.Trp204Cys) c.624G>T (p.Trp208Cys) c.393G>T (p.Trp131Cys) c.381G>T (p.Trp127Cys) c.615G>T (n.615G>T) c.819G>T (p.Trp273Cys) c.588G>T (p.Trp196Cys) c.831G>T (p.Trp277Cys)
9	g.99142550A=	CA1867259962	TGFBR1	c.613A= (p.Thr205=) c.625A= (p.Thr209=) c.394A= (p.Thr132=) c.382A= (p.Thr128=) c.616A= (n.616A=) c.820A= (p.Thr274=) c.589A= (p.Thr197=) c.832A= (p.Thr278=)
9	g.99142550A>C	CA16612811	TGFBR1	c.613A>C (p.Thr205Pro) c.625A>C (p.Thr209Pro) c.394A>C (p.Thr132Pro) c.382A>C (p.Thr128Pro) c.616A>C (n.616A>C) c.820A>C (p.Thr274Pro) c.589A>C (p.Thr197Pro) c.832A>C (p.Thr278Pro)	ClinVar dbSNP
9	g.99142550A>G	CA323920	TGFBR1	c.613A>G (p.Thr205Ala) c.625A>G (p.Thr209Ala) c.394A>G (p.Thr132Ala) c.382A>G (p.Thr128Ala) c.616A>G (n.616A>G) c.820A>G (p.Thr274Ala) c.589A>G (p.Thr197Ala) c.832A>G (p.Thr278Ala)	ClinVar dbSNP
9	g.99142550A>T	CA374230516	TGFBR1	c.613A>T (p.Thr205Ser) c.625A>T (p.Thr209Ser) c.394A>T (p.Thr132Ser) c.382A>T (p.Thr128Ser) c.616A>T (n.616A>T) c.820A>T (p.Thr274Ser) c.589A>T (p.Thr197Ser) c.832A>T (p.Thr278Ser)	dbSNP
9	g.99142551C>A	CA374230517	TGFBR1	c.614C>A (p.Thr205Asn) c.626C>A (p.Thr209Asn) c.395C>A (p.Thr132Asn) c.383C>A (p.Thr128Asn) c.617C>A (n.617C>A) c.821C>A (p.Thr274Asn) c.590C>A (p.Thr197Asn) c.833C>A (p.Thr278Asn)
9	g.99142551C>G	CA374230518	TGFBR1	c.614C>G (p.Thr205Ser) c.626C>G (p.Thr209Ser) c.395C>G (p.Thr132Ser) c.383C>G (p.Thr128Ser) c.617C>G (n.617C>G) c.821C>G (p.Thr274Ser) c.590C>G (p.Thr197Ser) c.833C>G (p.Thr278Ser)	COSMIC
9	g.99142551C>T	CA374230519	TGFBR1	c.614C>T (p.Thr205Ile) c.626C>T (p.Thr209Ile) c.395C>T (p.Thr132Ile) c.383C>T (p.Thr128Ile) c.617C>T (n.617C>T) c.821C>T (p.Thr274Ile) c.590C>T (p.Thr197Ile) c.833C>T (p.Thr278Ile)
9	g.99142552T>A	CA466434408	TGFBR1	c.615T>A (p.Thr205=) c.627T>A (p.Thr209=) c.396T>A (p.Thr132=) c.384T>A (p.Thr128=) c.618T>A (n.618T>A) c.822T>A (p.Thr274=) c.591T>A (p.Thr197=) c.834T>A (p.Thr278=)
9	g.99142552T>C	CA466434410	TGFBR1	c.615T>C (p.Thr205=) c.627T>C (p.Thr209=) c.396T>C (p.Thr132=) c.384T>C (p.Thr128=) c.618T>C (n.618T>C) c.822T>C (p.Thr274=) c.591T>C (p.Thr197=) c.834T>C (p.Thr278=)	gnomAD v4
9	g.99142552T>G	CA466434409	TGFBR1	c.615T>G (p.Thr205=) c.627T>G (p.Thr209=) c.396T>G (p.Thr132=) c.384T>G (p.Thr128=) c.618T>G (n.618T>G) c.822T>G (p.Thr274=) c.591T>G (p.Thr197=) c.834T>G (p.Thr278=)	ClinVar dbSNP gnomAD v4
9	g.99142552T=	CA1867259970	TGFBR1	c.615T= (p.Thr205=) c.627T= (p.Thr209=) c.396T= (p.Thr132=) c.384T= (p.Thr128=) c.618T= (n.618T=) c.822T= (p.Thr274=) c.591T= (p.Thr197=) c.834T= (p.Thr278=)
9	g.99142553C>A	CA374230520	TGFBR1	c.616C>A (p.Gln206Lys) c.628C>A (p.Gln210Lys) c.397C>A (p.Gln133Lys) c.385C>A (p.Gln129Lys) c.619C>A (n.619C>A) c.823C>A (p.Gln275Lys) c.592C>A (p.Gln198Lys) c.835C>A (p.Gln279Lys)
9	g.99142553C>G	CA374230521	TGFBR1	c.616C>G (p.Gln206Glu) c.628C>G (p.Gln210Glu) c.397C>G (p.Gln133Glu) c.385C>G (p.Gln129Glu) c.619C>G (n.619C>G) c.823C>G (p.Gln275Glu) c.592C>G (p.Gln198Glu) c.835C>G (p.Gln279Glu)
9	g.99142553C>T	CA374230522	TGFBR1	c.616C>T (p.Gln206Ter) c.628C>T (p.Gln210Ter) c.397C>T (p.Gln133Ter) c.385C>T (p.Gln129Ter) c.619C>T (n.619C>T) c.823C>T (p.Gln275Ter) c.592C>T (p.Gln198Ter) c.835C>T (p.Gln279Ter)
9	g.99142554A=	CA1867259979	TGFBR1	c.617A= (p.Gln206=) c.629A= (p.Gln210=) c.398A= (p.Gln133=) c.386A= (p.Gln129=) c.620A= (n.620A=) c.824A= (p.Gln275=) c.593A= (p.Gln198=) c.836A= (p.Gln279=)
9	g.99142554A>C	CA374230523	TGFBR1	c.617A>C (p.Gln206Pro) c.629A>C (p.Gln210Pro) c.398A>C (p.Gln133Pro) c.386A>C (p.Gln129Pro) c.620A>C (n.620A>C) c.824A>C (p.Gln275Pro) c.593A>C (p.Gln198Pro) c.836A>C (p.Gln279Pro)
9	g.99142554A>G	CA319831	TGFBR1	c.617A>G (p.Gln206Arg) c.629A>G (p.Gln210Arg) c.398A>G (p.Gln133Arg) c.386A>G (p.Gln129Arg) c.620A>G (n.620A>G) c.824A>G (p.Gln275Arg) c.593A>G (p.Gln198Arg) c.836A>G (p.Gln279Arg)	ClinVar dbSNP
9	g.99142554A>T	CA374230524	TGFBR1	c.617A>T (p.Gln206Leu) c.629A>T (p.Gln210Leu) c.398A>T (p.Gln133Leu) c.386A>T (p.Gln129Leu) c.620A>T (n.620A>T) c.824A>T (p.Gln275Leu) c.593A>T (p.Gln198Leu) c.836A>T (p.Gln279Leu)
9	g.99142555G>A	CA466434413	TGFBR1	c.618G>A (p.Gln206=) c.630G>A (p.Gln210=) c.399G>A (p.Gln133=) c.387G>A (p.Gln129=) c.621G>A (n.621G>A) c.825G>A (p.Gln275=) c.594G>A (p.Gln198=) c.837G>A (p.Gln279=)
9	g.99142555G>C	CA374230525	TGFBR1	c.618G>C (p.Gln206His) c.630G>C (p.Gln210His) c.399G>C (p.Gln133His) c.387G>C (p.Gln129His) c.621G>C (n.621G>C) c.825G>C (p.Gln275His) c.594G>C (p.Gln198His) c.837G>C (p.Gln279His)
9	g.99142555G>T	CA374230526	TGFBR1	c.618G>T (p.Gln206His) c.630G>T (p.Gln210His) c.399G>T (p.Gln133His) c.387G>T (p.Gln129His) c.621G>T (n.621G>T) c.825G>T (p.Gln275His) c.594G>T (p.Gln198His) c.837G>T (p.Gln279His)
9	g.99142556C>A	CA374230527	TGFBR1	c.619C>A (p.Leu207Ile) c.631C>A (p.Leu211Ile) c.400C>A (p.Leu134Ile) c.388C>A (p.Leu130Ile) c.622C>A (n.622C>A) c.826C>A (p.Leu276Ile) c.595C>A (p.Leu199Ile) c.838C>A (p.Leu280Ile)
9	g.99142556C>G	CA374230528	TGFBR1	c.619C>G (p.Leu207Val) c.631C>G (p.Leu211Val) c.400C>G (p.Leu134Val) c.388C>G (p.Leu130Val) c.622C>G (n.622C>G) c.826C>G (p.Leu276Val) c.595C>G (p.Leu199Val) c.838C>G (p.Leu280Val)	dbSNP
9	g.99142556C>T	CA374230529	TGFBR1	c.619C>T (p.Leu207Phe) c.631C>T (p.Leu211Phe) c.400C>T (p.Leu134Phe) c.388C>T (p.Leu130Phe) c.622C>T (n.622C>T) c.826C>T (p.Leu276Phe) c.595C>T (p.Leu199Phe) c.838C>T (p.Leu280Phe)
9	g.99142557T>A	CA374230530	TGFBR1	c.620T>A (p.Leu207His) c.632T>A (p.Leu211His) c.401T>A (p.Leu134His) c.389T>A (p.Leu130His) c.623T>A (n.623T>A) c.827T>A (p.Leu276His) c.596T>A (p.Leu199His) c.839T>A (p.Leu280His)
9	g.99142557T>C	CA374230531	TGFBR1	c.620T>C (p.Leu207Pro) c.632T>C (p.Leu211Pro) c.401T>C (p.Leu134Pro) c.389T>C (p.Leu130Pro) c.623T>C (n.623T>C) c.827T>C (p.Leu276Pro) c.596T>C (p.Leu199Pro) c.839T>C (p.Leu280Pro)	ClinVar dbSNP
9	g.99142557T>G	CA374230532	TGFBR1	c.620T>G (p.Leu207Arg) c.632T>G (p.Leu211Arg) c.401T>G (p.Leu134Arg) c.389T>G (p.Leu130Arg) c.623T>G (n.623T>G) c.827T>G (p.Leu276Arg) c.596T>G (p.Leu199Arg) c.839T>G (p.Leu280Arg)
9	g.99142557T=	CA1867259982	TGFBR1	c.620T= (p.Leu207=) c.632T= (p.Leu211=) c.401T= (p.Leu134=) c.389T= (p.Leu130=) c.623T= (n.623T=) c.827T= (p.Leu276=) c.596T= (p.Leu199=) c.839T= (p.Leu280=)
9	g.99142558C>A	CA466434414	TGFBR1	c.621C>A (p.Leu207=) c.633C>A (p.Leu211=) c.402C>A (p.Leu134=) c.390C>A (p.Leu130=) c.624C>A (n.624C>A) c.828C>A (p.Leu276=) c.597C>A (p.Leu199=) c.840C>A (p.Leu280=)
9	g.99142558C=	CA1867259986	TGFBR1	c.621C= (p.Leu207=) c.633C= (p.Leu211=) c.402C= (p.Leu134=) c.390C= (p.Leu130=) c.624C= (n.624C=) c.828C= (p.Leu276=) c.597C= (p.Leu199=) c.840C= (p.Leu280=)
9	g.99142558C>G	CA10630698	TGFBR1	c.621C>G (p.Leu207=) c.633C>G (p.Leu211=) c.402C>G (p.Leu134=) c.390C>G (p.Leu130=) c.624C>G (n.624C>G) c.828C>G (p.Leu276=) c.597C>G (p.Leu199=) c.840C>G (p.Leu280=)	ClinVar dbSNP
9	g.99142558C>T	CA466434416	TGFBR1	c.621C>T (p.Leu207=) c.633C>T (p.Leu211=) c.402C>T (p.Leu134=) c.390C>T (p.Leu130=) c.624C>T (n.624C>T) c.828C>T (p.Leu276=) c.597C>T (p.Leu199=) c.840C>T (p.Leu280=)
9	g.99142559T>A	CA374230533	TGFBR1	c.622T>A (p.Trp208Arg) c.634T>A (p.Trp212Arg) c.403T>A (p.Trp135Arg) c.391T>A (p.Trp131Arg) c.625T>A (n.625T>A) c.829T>A (p.Trp277Arg) c.598T>A (p.Trp200Arg) c.841T>A (p.Trp281Arg)	ClinVar dbSNP
9	g.99142559T>C	CA374230534	TGFBR1	c.622T>C (p.Trp208Arg) c.634T>C (p.Trp212Arg) c.403T>C (p.Trp135Arg) c.391T>C (p.Trp131Arg) c.625T>C (n.625T>C) c.829T>C (p.Trp277Arg) c.598T>C (p.Trp200Arg) c.841T>C (p.Trp281Arg)
9	g.99142559T>G	CA374230535	TGFBR1	c.622T>G (p.Trp208Gly) c.634T>G (p.Trp212Gly) c.403T>G (p.Trp135Gly) c.391T>G (p.Trp131Gly) c.625T>G (n.625T>G) c.829T>G (p.Trp277Gly) c.598T>G (p.Trp200Gly) c.841T>G (p.Trp281Gly)
9	g.99142559T=	CA1867259991	TGFBR1	c.622T= (p.Trp208=) c.634T= (p.Trp212=) c.403T= (p.Trp135=) c.391T= (p.Trp131=) c.625T= (n.625T=) c.829T= (p.Trp277=) c.598T= (p.Trp200=) c.841T= (p.Trp281=)
9	g.99142559_99142570delinsTGGTTGGTGTCA	CA1867259993	TGFBR1	c.622_633delinsTGGTTGGTGTCA (p.Trp208=) c.634_645delinsTGGTTGGTGTCA (p.Trp212=) c.403_414delinsTGGTTGGTGTCA (p.Trp135=) c.391_402delinsTGGTTGGTGTCA (p.Trp131=) c.625_636delinsTGGTTGGTGTCA (n.625_636delinsTGGTTGGTGTCA) c.829_840delinsTGGTTGGTGTCA (p.Trp277=) c.598_609delinsTGGTTGGTGTCA (p.Trp200=) c.841_852delinsTGGTTGGTGTCA (p.Trp281=)
9	g.99142560G>A	CA374230536	TGFBR1	c.623G>A (p.Trp208Ter) c.635G>A (p.Trp212Ter) c.404G>A (p.Trp135Ter) c.392G>A (p.Trp131Ter) c.626G>A (n.626G>A) c.830G>A (p.Trp277Ter) c.599G>A (p.Trp200Ter) c.842G>A (p.Trp281Ter)
9	g.99142560G>C	CA374230538	TGFBR1	c.623G>C (p.Trp208Ser) c.635G>C (p.Trp212Ser) c.404G>C (p.Trp135Ser) c.392G>C (p.Trp131Ser) c.626G>C (n.626G>C) c.830G>C (p.Trp277Ser) c.599G>C (p.Trp200Ser) c.842G>C (p.Trp281Ser)
9	g.99142560G>T	CA374230537	TGFBR1	c.623G>T (p.Trp208Leu) c.635G>T (p.Trp212Leu) c.404G>T (p.Trp135Leu) c.392G>T (p.Trp131Leu) c.626G>T (n.626G>T) c.830G>T (p.Trp277Leu) c.599G>T (p.Trp200Leu) c.842G>T (p.Trp281Leu)
9	g.99142561_99142571del	CA1139661071	TGFBR1	c.624_634del (p.Trp208Ter) c.636_646del (p.Trp212Ter) c.405_415del (p.Trp135Ter) c.393_403del (p.Trp131Ter) c.627_637del (n.627_637del) c.831_841del (p.Trp277Ter) c.600_610del (p.Trp200Ter) c.843_853del (p.Trp281Ter)	ClinVar dbSNP
9	g.99142561G>A	CA374230539	TGFBR1	c.624G>A (p.Trp208Ter) c.636G>A (p.Trp212Ter) c.405G>A (p.Trp135Ter) c.393G>A (p.Trp131Ter) c.627G>A (n.627G>A) c.831G>A (p.Trp277Ter) c.600G>A (p.Trp200Ter) c.843G>A (p.Trp281Ter)	gnomAD v4
9	g.99142561G>C	CA374230540	TGFBR1	c.624G>C (p.Trp208Cys) c.636G>C (p.Trp212Cys) c.405G>C (p.Trp135Cys) c.393G>C (p.Trp131Cys) c.627G>C (n.627G>C) c.831G>C (p.Trp277Cys) c.600G>C (p.Trp200Cys) c.843G>C (p.Trp281Cys)
9	g.99142561G=	CA1867259998	TGFBR1	c.624G= (p.Trp208=) c.636G= (p.Trp212=) c.405G= (p.Trp135=) c.393G= (p.Trp131=) c.627G= (n.627G=) c.831G= (p.Trp277=) c.600G= (p.Trp200=) c.843G= (p.Trp281=)
9	g.99142561G>T	CA374230541	TGFBR1	c.624G>T (p.Trp208Cys) c.636G>T (p.Trp212Cys) c.405G>T (p.Trp135Cys) c.393G>T (p.Trp131Cys) c.627G>T (n.627G>T) c.831G>T (p.Trp277Cys) c.600G>T (p.Trp200Cys) c.843G>T (p.Trp281Cys)
9	g.99142562T>A	CA374230542	TGFBR1	c.625T>A (p.Leu209Met) c.637T>A (p.Leu213Met) c.406T>A (p.Leu136Met) c.394T>A (p.Leu132Met) c.628T>A (n.628T>A) c.832T>A (p.Leu278Met) c.601T>A (p.Leu201Met) c.844T>A (p.Leu282Met)
9	g.99142562T>C	CA466434419	TGFBR1	c.625T>C (p.Leu209=) c.637T>C (p.Leu213=) c.406T>C (p.Leu136=) c.394T>C (p.Leu132=) c.628T>C (n.628T>C) c.832T>C (p.Leu278=) c.601T>C (p.Leu201=) c.844T>C (p.Leu282=)
9	g.99142562T>G	CA374230543	TGFBR1	c.625T>G (p.Leu209Val) c.637T>G (p.Leu213Val) c.406T>G (p.Leu136Val) c.394T>G (p.Leu132Val) c.628T>G (n.628T>G) c.832T>G (p.Leu278Val) c.601T>G (p.Leu201Val) c.844T>G (p.Leu282Val)
9	g.99142563dup	CA1139661072	TGFBR1	c.626dup (p.Leu209PhefsTer7) c.638dup (p.Leu213PhefsTer7) c.407dup (p.Leu136PhefsTer7) c.395dup (p.Leu132PhefsTer7) c.629dup (n.629dup) c.833dup (p.Leu278PhefsTer7) c.602dup (p.Leu201PhefsTer7) c.845dup (p.Leu282PhefsTer7)	ClinVar dbSNP
9	g.99142563T>A	CA374230544	TGFBR1	c.626T>A (p.Leu209Ter) c.638T>A (p.Leu213Ter) c.407T>A (p.Leu136Ter) c.395T>A (p.Leu132Ter) c.629T>A (n.629T>A) c.833T>A (p.Leu278Ter) c.602T>A (p.Leu201Ter) c.845T>A (p.Leu282Ter)
9	g.99142563T>C	CA374230545	TGFBR1	c.626T>C (p.Leu209Ser) c.638T>C (p.Leu213Ser) c.407T>C (p.Leu136Ser) c.395T>C (p.Leu132Ser) c.629T>C (n.629T>C) c.833T>C (p.Leu278Ser) c.602T>C (p.Leu201Ser) c.845T>C (p.Leu282Ser)
9	g.99142563T>G	CA374230546	TGFBR1	c.626T>G (p.Leu209Trp) c.638T>G (p.Leu213Trp) c.407T>G (p.Leu136Trp) c.395T>G (p.Leu132Trp) c.629T>G (n.629T>G) c.833T>G (p.Leu278Trp) c.602T>G (p.Leu201Trp) c.845T>G (p.Leu282Trp)
9	g.99142564G>A	CA466434420	TGFBR1	c.627G>A (p.Leu209=) c.639G>A (p.Leu213=) c.408G>A (p.Leu136=) c.396G>A (p.Leu132=) c.630G>A (n.630G>A) c.834G>A (p.Leu278=) c.603G>A (p.Leu201=) c.846G>A (p.Leu282=)	gnomAD v4
9	g.99142564G>C	CA374230547	TGFBR1	c.627G>C (p.Leu209Phe) c.639G>C (p.Leu213Phe) c.408G>C (p.Leu136Phe) c.396G>C (p.Leu132Phe) c.630G>C (n.630G>C) c.834G>C (p.Leu278Phe) c.603G>C (p.Leu201Phe) c.846G>C (p.Leu282Phe)
9	g.99142564G>T	CA374230548	TGFBR1	c.627G>T (p.Leu209Phe) c.639G>T (p.Leu213Phe) c.408G>T (p.Leu136Phe) c.396G>T (p.Leu132Phe) c.630G>T (n.630G>T) c.834G>T (p.Leu278Phe) c.603G>T (p.Leu201Phe) c.846G>T (p.Leu282Phe)
9	g.99142565G>A	CA374230549	TGFBR1	c.628G>A (p.Val210Met) c.640G>A (p.Val214Met) c.409G>A (p.Val137Met) c.397G>A (p.Val133Met) c.631G>A (n.631G>A) c.835G>A (p.Val279Met) c.604G>A (p.Val202Met) c.847G>A (p.Val283Met)	dbSNP
9	g.99142565G>C	CA10587683	TGFBR1	c.628G>C (p.Val210Leu) c.640G>C (p.Val214Leu) c.409G>C (p.Val137Leu) c.397G>C (p.Val133Leu) c.631G>C (n.631G>C) c.835G>C (p.Val279Leu) c.604G>C (p.Val202Leu) c.847G>C (p.Val283Leu)	ClinVar dbSNP gnomAD v4
9	g.99142565G=	CA1867260010	TGFBR1	c.628G= (p.Val210=) c.640G= (p.Val214=) c.409G= (p.Val137=) c.397G= (p.Val133=) c.631G= (n.631G=) c.835G= (p.Val279=) c.604G= (p.Val202=) c.847G= (p.Val283=)
9	g.99142565G>T	CA374230550	TGFBR1	c.628G>T (p.Val210Leu) c.640G>T (p.Val214Leu) c.409G>T (p.Val137Leu) c.397G>T (p.Val133Leu) c.631G>T (n.631G>T) c.835G>T (p.Val279Leu) c.604G>T (p.Val202Leu) c.847G>T (p.Val283Leu)
9	g.99142566T>A	CA374230553	TGFBR1	c.629T>A (p.Val210Glu) c.641T>A (p.Val214Glu) c.410T>A (p.Val137Glu) c.398T>A (p.Val133Glu) c.632T>A (n.632T>A) c.836T>A (p.Val279Glu) c.605T>A (p.Val202Glu) c.848T>A (p.Val283Glu)
9	g.99142566T>C	CA374230551	TGFBR1	c.629T>C (p.Val210Ala) c.641T>C (p.Val214Ala) c.410T>C (p.Val137Ala) c.398T>C (p.Val133Ala) c.632T>C (n.632T>C) c.836T>C (p.Val279Ala) c.605T>C (p.Val202Ala) c.848T>C (p.Val283Ala)	ClinVar
9	g.99142566T>G	CA374230552	TGFBR1	c.629T>G (p.Val210Gly) c.641T>G (p.Val214Gly) c.410T>G (p.Val137Gly) c.398T>G (p.Val133Gly) c.632T>G (n.632T>G) c.836T>G (p.Val279Gly) c.605T>G (p.Val202Gly) c.848T>G (p.Val283Gly)
9	g.99142567G>A	CA466434422	TGFBR1	c.630G>A (p.Val210=) c.642G>A (p.Val214=) c.411G>A (p.Val137=) c.399G>A (p.Val133=) c.633G>A (n.633G>A) c.837G>A (p.Val279=) c.606G>A (p.Val202=) c.849G>A (p.Val283=)	dbSNP
9	g.99142567G>C	CA466434423	TGFBR1	c.630G>C (p.Val210=) c.642G>C (p.Val214=) c.411G>C (p.Val137=) c.399G>C (p.Val133=) c.633G>C (n.633G>C) c.837G>C (p.Val279=) c.606G>C (p.Val202=) c.849G>C (p.Val283=)
9	g.99142567G>T	CA466434424	TGFBR1	c.630G>T (p.Val210=) c.642G>T (p.Val214=) c.411G>T (p.Val137=) c.399G>T (p.Val133=) c.633G>T (n.633G>T) c.837G>T (p.Val279=) c.606G>T (p.Val202=) c.849G>T (p.Val283=)	gnomAD v4
9	g.99142568T>A	CA374230554	TGFBR1	c.631T>A (p.Ser211Thr) c.643T>A (p.Ser215Thr) c.412T>A (p.Ser138Thr) c.400T>A (p.Ser134Thr) c.634T>A (n.634T>A) c.838T>A (p.Ser280Thr) c.607T>A (p.Ser203Thr) c.850T>A (p.Ser284Thr)
9	g.99142568T>C	CA374230555	TGFBR1	c.631T>C (p.Ser211Pro) c.643T>C (p.Ser215Pro) c.412T>C (p.Ser138Pro) c.400T>C (p.Ser134Pro) c.634T>C (n.634T>C) c.838T>C (p.Ser280Pro) c.607T>C (p.Ser203Pro) c.850T>C (p.Ser284Pro)
9	g.99142568T>G	CA374230556	TGFBR1	c.631T>G (p.Ser211Ala) c.643T>G (p.Ser215Ala) c.412T>G (p.Ser138Ala) c.400T>G (p.Ser134Ala) c.634T>G (n.634T>G) c.838T>G (p.Ser280Ala) c.607T>G (p.Ser203Ala) c.850T>G (p.Ser284Ala)
9	g.99142569C>A	CA374230557	TGFBR1	c.632C>A (p.Ser211Ter) c.644C>A (p.Ser215Ter) c.413C>A (p.Ser138Ter) c.401C>A (p.Ser134Ter) c.635C>A (n.635C>A) c.839C>A (p.Ser280Ter) c.608C>A (p.Ser203Ter) c.851C>A (p.Ser284Ter)
9	g.99142569C>G	CA374230558	TGFBR1	c.632C>G (p.Ser211Ter) c.644C>G (p.Ser215Ter) c.413C>G (p.Ser138Ter) c.401C>G (p.Ser134Ter) c.635C>G (n.635C>G) c.839C>G (p.Ser280Ter) c.608C>G (p.Ser203Ter) c.851C>G (p.Ser284Ter)	ClinVar
9	g.99142569C>T	CA374230559	TGFBR1	c.632C>T (p.Ser211Leu) c.644C>T (p.Ser215Leu) c.413C>T (p.Ser138Leu) c.401C>T (p.Ser134Leu) c.635C>T (n.635C>T) c.839C>T (p.Ser280Leu) c.608C>T (p.Ser203Leu) c.851C>T (p.Ser284Leu)	gnomAD v4
9	g.99142570A=	CA1867260012	TGFBR1	c.633A= (p.Ser211=) c.645A= (p.Ser215=) c.414A= (p.Ser138=) c.402A= (p.Ser134=) c.636A= (n.636A=) c.840A= (p.Ser280=) c.609A= (p.Ser203=) c.852A= (p.Ser284=)
9	g.99142570A>C	CA466434427	TGFBR1	c.633A>C (p.Ser211=) c.645A>C (p.Ser215=) c.414A>C (p.Ser138=) c.402A>C (p.Ser134=) c.636A>C (n.636A>C) c.840A>C (p.Ser280=) c.609A>C (p.Ser203=) c.852A>C (p.Ser284=)
9	g.99142570A>G	CA466434428	TGFBR1	c.633A>G (p.Ser211=) c.645A>G (p.Ser215=) c.414A>G (p.Ser138=) c.402A>G (p.Ser134=) c.636A>G (n.636A>G) c.840A>G (p.Ser280=) c.609A>G (p.Ser203=) c.852A>G (p.Ser284=)	dbSNP
9	g.99142570A>T	CA466434429	TGFBR1	c.633A>T (p.Ser211=) c.645A>T (p.Ser215=) c.414A>T (p.Ser138=) c.402A>T (p.Ser134=) c.636A>T (n.636A>T) c.840A>T (p.Ser280=) c.609A>T (p.Ser203=) c.852A>T (p.Ser284=)
9	g.99142571G>A	CA374230560	TGFBR1	c.634G>A (p.Asp212Asn) c.646G>A (p.Asp216Asn) c.415G>A (p.Asp139Asn) c.403G>A (p.Asp135Asn) c.637G>A (n.637G>A) c.841G>A (p.Asp281Asn) c.610G>A (p.Asp204Asn) c.853G>A (p.Asp285Asn)	dbSNP
9	g.99142571G>C	CA374230561	TGFBR1	c.634G>C (p.Asp212His) c.646G>C (p.Asp216His) c.415G>C (p.Asp139His) c.403G>C (p.Asp135His) c.637G>C (n.637G>C) c.841G>C (p.Asp281His) c.610G>C (p.Asp204His) c.853G>C (p.Asp285His)
9	g.99142571G>T	CA374230562	TGFBR1	c.634G>T (p.Asp212Tyr) c.646G>T (p.Asp216Tyr) c.415G>T (p.Asp139Tyr) c.403G>T (p.Asp135Tyr) c.637G>T (n.637G>T) c.841G>T (p.Asp281Tyr) c.610G>T (p.Asp204Tyr) c.853G>T (p.Asp285Tyr)
9	g.99142573_99142581del	CA2739264890	TGFBR1	c.636_644del (p.Asp212_His214del) c.648_656del (p.Asp216_His218del) c.417_425del (p.Asp139_His141del) c.405_413del (p.Asp135_His137del) c.639_647del (n.639_647del) c.843_851del (p.Asp281_His283del) c.612_620del (p.Asp204_His206del) c.855_863del (p.Asp285_His287del)	ClinVar
9	g.99142572A=	CA1867260018	TGFBR1	c.635A= (p.Asp212=) c.647A= (p.Asp216=) c.416A= (p.Asp139=) c.404A= (p.Asp135=) c.638A= (n.638A=) c.842A= (p.Asp281=) c.611A= (p.Asp204=) c.854A= (p.Asp285=)
9	g.99142572A>C	CA374230563	TGFBR1	c.635A>C (p.Asp212Ala) c.647A>C (p.Asp216Ala) c.416A>C (p.Asp139Ala) c.404A>C (p.Asp135Ala) c.638A>C (n.638A>C) c.842A>C (p.Asp281Ala) c.611A>C (p.Asp204Ala) c.854A>C (p.Asp285Ala)	ClinVar dbSNP
9	g.99142572A>G	CA374230564	TGFBR1	c.635A>G (p.Asp212Gly) c.647A>G (p.Asp216Gly) c.416A>G (p.Asp139Gly) c.404A>G (p.Asp135Gly) c.638A>G (n.638A>G) c.842A>G (p.Asp281Gly) c.611A>G (p.Asp204Gly) c.854A>G (p.Asp285Gly)
9	g.99142572A>T	CA374230565	TGFBR1	c.635A>T (p.Asp212Val) c.647A>T (p.Asp216Val) c.416A>T (p.Asp139Val) c.404A>T (p.Asp135Val) c.638A>T (n.638A>T) c.842A>T (p.Asp281Val) c.611A>T (p.Asp204Val) c.854A>T (p.Asp285Val)
9	g.99142573T>A	CA374230566	TGFBR1	c.636T>A (p.Asp212Glu) c.648T>A (p.Asp216Glu) c.417T>A (p.Asp139Glu) c.405T>A (p.Asp135Glu) c.639T>A (n.639T>A) c.843T>A (p.Asp281Glu) c.612T>A (p.Asp204Glu) c.855T>A (p.Asp285Glu)
9	g.99142573T>C	CA466434430	TGFBR1	c.636T>C (p.Asp212=) c.648T>C (p.Asp216=) c.417T>C (p.Asp139=) c.405T>C (p.Asp135=) c.639T>C (n.639T>C) c.843T>C (p.Asp281=) c.612T>C (p.Asp204=) c.855T>C (p.Asp285=)
9	g.99142573T>G	CA374230567	TGFBR1	c.636T>G (p.Asp212Glu) c.648T>G (p.Asp216Glu) c.417T>G (p.Asp139Glu) c.405T>G (p.Asp135Glu) c.639T>G (n.639T>G) c.843T>G (p.Asp281Glu) c.612T>G (p.Asp204Glu) c.855T>G (p.Asp285Glu)
9	g.99142574T>A	CA374230568	TGFBR1	c.637T>A (p.Tyr213Asn) c.649T>A (p.Tyr217Asn) c.418T>A (p.Tyr140Asn) c.406T>A (p.Tyr136Asn) c.640T>A (n.640T>A) c.844T>A (p.Tyr282Asn) c.613T>A (p.Tyr205Asn) c.856T>A (p.Tyr286Asn)
9	g.99142574T>C	CA043241	TGFBR1	c.637T>C (p.Tyr213His) c.649T>C (p.Tyr217His) c.418T>C (p.Tyr140His) c.406T>C (p.Tyr136His) c.640T>C (n.640T>C) c.844T>C (p.Tyr282His) c.613T>C (p.Tyr205His) c.856T>C (p.Tyr286His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9	g.99142574T>G	CA374230569	TGFBR1	c.637T>G (p.Tyr213Asp) c.649T>G (p.Tyr217Asp) c.418T>G (p.Tyr140Asp) c.406T>G (p.Tyr136Asp) c.640T>G (n.640T>G) c.844T>G (p.Tyr282Asp) c.613T>G (p.Tyr205Asp) c.856T>G (p.Tyr286Asp)	ClinVar dbSNP COSMIC
9	g.99142574T=	CA1867260025	TGFBR1	c.637T= (p.Tyr213=) c.649T= (p.Tyr217=) c.418T= (p.Tyr140=) c.406T= (p.Tyr136=) c.640T= (n.640T=) c.844T= (p.Tyr282=) c.613T= (p.Tyr205=) c.856T= (p.Tyr286=)
9	g.99142574_99142577delinsTATC	CA1867260028	TGFBR1	c.637_640delinsTATC (p.Tyr213=) c.649_652delinsTATC (p.Tyr217=) c.418_421delinsTATC (p.Tyr140=) c.406_409delinsTATC (p.Tyr136=) c.640_643delinsTATC (n.640_643delinsTATC) c.844_847delinsTATC (p.Tyr282=) c.613_616delinsTATC (p.Tyr205=) c.856_859delinsTATC (p.Tyr286=)
9	g.99142575A>C	CA374230570	TGFBR1	c.638A>C (p.Tyr213Ser) c.650A>C (p.Tyr217Ser) c.419A>C (p.Tyr140Ser) c.407A>C (p.Tyr136Ser) c.641A>C (n.641A>C) c.845A>C (p.Tyr282Ser) c.614A>C (p.Tyr205Ser) c.857A>C (p.Tyr286Ser)
9	g.99142575A>G	CA374230572	TGFBR1	c.638A>G (p.Tyr213Cys) c.650A>G (p.Tyr217Cys) c.419A>G (p.Tyr140Cys) c.407A>G (p.Tyr136Cys) c.641A>G (n.641A>G) c.845A>G (p.Tyr282Cys) c.614A>G (p.Tyr205Cys) c.857A>G (p.Tyr286Cys)
9	g.99142575A>T	CA374230571	TGFBR1	c.638A>T (p.Tyr213Phe) c.650A>T (p.Tyr217Phe) c.419A>T (p.Tyr140Phe) c.407A>T (p.Tyr136Phe) c.641A>T (n.641A>T) c.845A>T (p.Tyr282Phe) c.614A>T (p.Tyr205Phe) c.857A>T (p.Tyr286Phe)
9	g.99142577_99142579del	CA915947111	TGFBR1	c.640_642del (p.His214del) c.652_654del (p.His218del) c.421_423del (p.His141del) c.409_411del (p.His137del) c.643_645del (n.643_645del) c.847_849del (p.His283del) c.616_618del (p.His206del) c.859_861del (p.His287del)	ClinVar dbSNP
9	g.99142576T>A	CA374230573	TGFBR1	c.639T>A (p.Tyr213Ter) c.651T>A (p.Tyr217Ter) c.420T>A (p.Tyr140Ter) c.408T>A (p.Tyr136Ter) c.642T>A (n.642T>A) c.846T>A (p.Tyr282Ter) c.615T>A (p.Tyr205Ter) c.858T>A (p.Tyr286Ter)
9	g.99142576T>C	CA466434431	TGFBR1	c.639T>C (p.Tyr213=) c.651T>C (p.Tyr217=) c.420T>C (p.Tyr140=) c.408T>C (p.Tyr136=) c.642T>C (n.642T>C) c.846T>C (p.Tyr282=) c.615T>C (p.Tyr205=) c.858T>C (p.Tyr286=)
9	g.99142576T>G	CA374230574	TGFBR1	c.639T>G (p.Tyr213Ter) c.651T>G (p.Tyr217Ter) c.420T>G (p.Tyr140Ter) c.408T>G (p.Tyr136Ter) c.642T>G (n.642T>G) c.846T>G (p.Tyr282Ter) c.615T>G (p.Tyr205Ter) c.858T>G (p.Tyr286Ter)
9	g.99142577C>A	CA374230575	TGFBR1	c.640C>A (p.His214Asn) c.652C>A (p.His218Asn) c.421C>A (p.His141Asn) c.409C>A (p.His137Asn) c.643C>A (n.643C>A) c.847C>A (p.His283Asn) c.616C>A (p.His206Asn) c.859C>A (p.His287Asn)	dbSNP
9	g.99142577C>G	CA374230576	TGFBR1	c.640C>G (p.His214Asp) c.652C>G (p.His218Asp) c.421C>G (p.His141Asp) c.409C>G (p.His137Asp) c.643C>G (n.643C>G) c.847C>G (p.His283Asp) c.616C>G (p.His206Asp) c.859C>G (p.His287Asp)
9	g.99142577C>T	CA374230577	TGFBR1	c.640C>T (p.His214Tyr) c.652C>T (p.His218Tyr) c.421C>T (p.His141Tyr) c.409C>T (p.His137Tyr) c.643C>T (n.643C>T) c.847C>T (p.His283Tyr) c.616C>T (p.His206Tyr) c.859C>T (p.His287Tyr)	ClinVar
9	g.99142578A=	CA1867260030	TGFBR1	c.641A= (p.His214=) c.653A= (p.His218=) c.422A= (p.His141=) c.410A= (p.His137=) c.644A= (n.644A=) c.848A= (p.His283=) c.617A= (p.His206=) c.860A= (p.His287=)
9	g.99142578A>C	CA16618919	TGFBR1	c.641A>C (p.His214Pro) c.653A>C (p.His218Pro) c.422A>C (p.His141Pro) c.410A>C (p.His137Pro) c.644A>C (n.644A>C) c.848A>C (p.His283Pro) c.617A>C (p.His206Pro) c.860A>C (p.His287Pro)	ClinVar dbSNP
9	g.99142578A>G	CA374230578	TGFBR1	c.641A>G (p.His214Arg) c.653A>G (p.His218Arg) c.422A>G (p.His141Arg) c.410A>G (p.His137Arg) c.644A>G (n.644A>G) c.848A>G (p.His283Arg) c.617A>G (p.His206Arg) c.860A>G (p.His287Arg)	ClinVar dbSNP gnomAD v4 COSMIC
9	g.99142578A>T	CA374230579	TGFBR1	c.641A>T (p.His214Leu) c.653A>T (p.His218Leu) c.422A>T (p.His141Leu) c.410A>T (p.His137Leu) c.644A>T (n.644A>T) c.848A>T (p.His283Leu) c.617A>T (p.His206Leu) c.860A>T (p.His287Leu)	ClinVar
9	g.99142579T>A	CA374230580	TGFBR1	c.642T>A (p.His214Gln) c.654T>A (p.His218Gln) c.423T>A (p.His141Gln) c.411T>A (p.His137Gln) c.645T>A (n.645T>A) c.849T>A (p.His283Gln) c.618T>A (p.His206Gln) c.861T>A (p.His287Gln)
9	g.99142579T>C	CA196891535	TGFBR1	c.642T>C (p.His214=) c.654T>C (p.His218=) c.423T>C (p.His141=) c.411T>C (p.His137=) c.645T>C (n.645T>C) c.849T>C (p.His283=) c.618T>C (p.His206=) c.861T>C (p.His287=)	dbSNP gnomAD v4
9	g.99142579T>G	CA374230581	TGFBR1	c.642T>G (p.His214Gln) c.654T>G (p.His218Gln) c.423T>G (p.His141Gln) c.411T>G (p.His137Gln) c.645T>G (n.645T>G) c.849T>G (p.His283Gln) c.618T>G (p.His206Gln) c.861T>G (p.His287Gln)
9	g.99142579T=	CA1867260033	TGFBR1	c.642T= (p.His214=) c.654T= (p.His218=) c.423T= (p.His141=) c.411T= (p.His137=) c.645T= (n.645T=) c.849T= (p.His283=) c.618T= (p.His206=) c.861T= (p.His287=)
9	g.99142580G>A	CA374230582	TGFBR1	c.643G>A (p.Glu215Lys) c.655G>A (p.Glu219Lys) c.424G>A (p.Glu142Lys) c.412G>A (p.Glu138Lys) c.646G>A (n.646G>A) c.850G>A (p.Glu284Lys) c.619G>A (p.Glu207Lys) c.862G>A (p.Glu288Lys)	dbSNP
9	g.99142580G>C	CA374230583	TGFBR1	c.643G>C (p.Glu215Gln) c.655G>C (p.Glu219Gln) c.424G>C (p.Glu142Gln) c.412G>C (p.Glu138Gln) c.646G>C (n.646G>C) c.850G>C (p.Glu284Gln) c.619G>C (p.Glu207Gln) c.862G>C (p.Glu288Gln)
9	g.99142580G=	CA1867260036	TGFBR1	c.643G= (p.Glu215=) c.655G= (p.Glu219=) c.424G= (p.Glu142=) c.412G= (p.Glu138=) c.646G= (n.646G=) c.850G= (p.Glu284=) c.619G= (p.Glu207=) c.862G= (p.Glu288=)
9	g.99142580G>T	CA374230584	TGFBR1	c.643G>T (p.Glu215Ter) c.655G>T (p.Glu219Ter) c.424G>T (p.Glu142Ter) c.412G>T (p.Glu138Ter) c.646G>T (n.646G>T) c.850G>T (p.Glu284Ter) c.619G>T (p.Glu207Ter) c.862G>T (p.Glu288Ter)	COSMIC
9	g.99142581A>C	CA374230587	TGFBR1	c.644A>C (p.Glu215Ala) c.656A>C (p.Glu219Ala) c.425A>C (p.Glu142Ala) c.413A>C (p.Glu138Ala) c.647A>C (n.647A>C) c.851A>C (p.Glu284Ala) c.620A>C (p.Glu207Ala) c.863A>C (p.Glu288Ala)
9	g.99142581A>G	CA374230585	TGFBR1	c.644A>G (p.Glu215Gly) c.656A>G (p.Glu219Gly) c.425A>G (p.Glu142Gly) c.413A>G (p.Glu138Gly) c.647A>G (n.647A>G) c.851A>G (p.Glu284Gly) c.620A>G (p.Glu207Gly) c.863A>G (p.Glu288Gly)
9	g.99142581A>T	CA374230586	TGFBR1	c.644A>T (p.Glu215Val) c.656A>T (p.Glu219Val) c.425A>T (p.Glu142Val) c.413A>T (p.Glu138Val) c.647A>T (n.647A>T) c.851A>T (p.Glu284Val) c.620A>T (p.Glu207Val) c.863A>T (p.Glu288Val)
9	g.99142582G>A	CA466434433	TGFBR1	c.645G>A (p.Glu215=) c.657G>A (p.Glu219=) c.426G>A (p.Glu142=) c.414G>A (p.Glu138=) c.648G>A (n.648G>A) c.852G>A (p.Glu284=) c.621G>A (p.Glu207=) c.864G>A (p.Glu288=)	ClinVar gnomAD v4
9	g.99142582G>C	CA374230588	TGFBR1	c.645G>C (p.Glu215Asp) c.657G>C (p.Glu219Asp) c.426G>C (p.Glu142Asp) c.414G>C (p.Glu138Asp) c.648G>C (n.648G>C) c.852G>C (p.Glu284Asp) c.621G>C (p.Glu207Asp) c.864G>C (p.Glu288Asp)
9	g.99142582G>T	CA374230589	TGFBR1	c.645G>T (p.Glu215Asp) c.657G>T (p.Glu219Asp) c.426G>T (p.Glu142Asp) c.414G>T (p.Glu138Asp) c.648G>T (n.648G>T) c.852G>T (p.Glu284Asp) c.621G>T (p.Glu207Asp) c.864G>T (p.Glu288Asp)
9	g.99142583C>A	CA374230590	TGFBR1	c.646C>A (p.His216Asn) c.658C>A (p.His220Asn) c.427C>A (p.His143Asn) c.415C>A (p.His139Asn) c.649C>A (n.649C>A) c.853C>A (p.His285Asn) c.622C>A (p.His208Asn) c.865C>A (p.His289Asn)
9	g.99142583C=	CA1867260040	TGFBR1	c.646C= (p.His216=) c.658C= (p.His220=) c.427C= (p.His143=) c.415C= (p.His139=) c.649C= (n.649C=) c.853C= (p.His285=) c.622C= (p.His208=) c.865C= (p.His289=)
9	g.99142583C>G	CA374230591	TGFBR1	c.646C>G (p.His216Asp) c.658C>G (p.His220Asp) c.427C>G (p.His143Asp) c.415C>G (p.His139Asp) c.649C>G (n.649C>G) c.853C>G (p.His285Asp) c.622C>G (p.His208Asp) c.865C>G (p.His289Asp)
9	g.99142583C>T	CA374230592	TGFBR1	c.646C>T (p.His216Tyr) c.658C>T (p.His220Tyr) c.427C>T (p.His143Tyr) c.415C>T (p.His139Tyr) c.649C>T (n.649C>T) c.853C>T (p.His285Tyr) c.622C>T (p.His208Tyr) c.865C>T (p.His289Tyr)	dbSNP gnomAD v2 gnomAD v4
9	g.99142584A=	CA1867260045	TGFBR1	c.647A= (p.His216=) c.659A= (p.His220=) c.428A= (p.His143=) c.416A= (p.His139=) c.650A= (n.650A=) c.854A= (p.His285=) c.623A= (p.His208=) c.866A= (p.His289=)
9	g.99142584A>C	CA374230593	TGFBR1	c.647A>C (p.His216Pro) c.659A>C (p.His220Pro) c.428A>C (p.His143Pro) c.416A>C (p.His139Pro) c.650A>C (n.650A>C) c.854A>C (p.His285Pro) c.623A>C (p.His208Pro) c.866A>C (p.His289Pro)
9	g.99142584A>G	CA374230594	TGFBR1	c.647A>G (p.His216Arg) c.659A>G (p.His220Arg) c.428A>G (p.His143Arg) c.416A>G (p.His139Arg) c.650A>G (n.650A>G) c.854A>G (p.His285Arg) c.623A>G (p.His208Arg) c.866A>G (p.His289Arg)	ClinVar dbSNP gnomAD v4
9	g.99142584A>T	CA374230595	TGFBR1	c.647A>T (p.His216Leu) c.659A>T (p.His220Leu) c.428A>T (p.His143Leu) c.416A>T (p.His139Leu) c.650A>T (n.650A>T) c.854A>T (p.His285Leu) c.623A>T (p.His208Leu) c.866A>T (p.His289Leu)	ClinVar dbSNP
9	g.99142585T>A	CA374230596	TGFBR1	c.648T>A (p.His216Gln) c.660T>A (p.His220Gln) c.429T>A (p.His143Gln) c.417T>A (p.His139Gln) c.651T>A (n.651T>A) c.855T>A (p.His285Gln) c.624T>A (p.His208Gln) c.867T>A (p.His289Gln)
9	g.99142585T>C	CA466434437	TGFBR1	c.648T>C (p.His216=) c.660T>C (p.His220=) c.429T>C (p.His143=) c.417T>C (p.His139=) c.651T>C (n.651T>C) c.855T>C (p.His285=) c.624T>C (p.His208=) c.867T>C (p.His289=)	dbSNP
9	g.99142585T>G	CA374230597	TGFBR1	c.648T>G (p.His216Gln) c.660T>G (p.His220Gln) c.429T>G (p.His143Gln) c.417T>G (p.His139Gln) c.651T>G (n.651T>G) c.855T>G (p.His285Gln) c.624T>G (p.His208Gln) c.867T>G (p.His289Gln)
9	g.99142585T=	CA1867260050	TGFBR1	c.648T= (p.His216=) c.660T= (p.His220=) c.429T= (p.His143=) c.417T= (p.His139=) c.651T= (n.651T=) c.855T= (p.His285=) c.624T= (p.His208=) c.867T= (p.His289=)
9	g.99142586G>A	CA374230599	TGFBR1	c.649G>A (p.Gly217Arg) c.661G>A (p.Gly221Arg) c.430G>A (p.Gly144Arg) c.418G>A (p.Gly140Arg) c.652G>A (n.652G>A) c.856G>A (p.Gly286Arg) c.625G>A (p.Gly209Arg) c.868G>A (p.Gly290Arg)	COSMIC
9	g.99142586G>C	CA374230600	TGFBR1	c.649G>C (p.Gly217Arg) c.661G>C (p.Gly221Arg) c.430G>C (p.Gly144Arg) c.418G>C (p.Gly140Arg) c.652G>C (n.652G>C) c.856G>C (p.Gly286Arg) c.625G>C (p.Gly209Arg) c.868G>C (p.Gly290Arg)
9	g.99142586G>T	CA374230598	TGFBR1	c.649G>T (p.Gly217Ter) c.661G>T (p.Gly221Ter) c.430G>T (p.Gly144Ter) c.418G>T (p.Gly140Ter) c.652G>T (n.652G>T) c.856G>T (p.Gly286Ter) c.625G>T (p.Gly209Ter) c.868G>T (p.Gly290Ter)

Number of alleles fetched