Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.227273090G>A	CA16609438	COL4A3,MFF-DT	c.1900G>A (p.Gly634Arg) n.423-4321C>T c.661G>A (p.Gly221Arg) n.2038G>A	dbSNP
2	g.[227273090G>A;227273117G>A]	CA645372377	COL4A3,MFF-DT	c.[1900G>A;1927G>A] (p.[Gly634Arg;Gly643Ser]) n.[423-4348C>T;423-4321C>T] c.[661G>A;688G>A] (p.[Gly221Arg;Gly230Ser]) n.[2038G>A;2065G>A]	ClinVar
2	g.227273090G>C	CA350845023	COL4A3,MFF-DT	c.1900G>C (p.Gly634Arg) n.423-4321C>G c.661G>C (p.Gly221Arg) n.2038G>C
2	g.227273090G=	CA1332846449	COL4A3,MFF-DT	c.1900G= (p.Gly634=) n.423-4321C= c.661G= (p.Gly221=) n.2038G=
2	g.227273090G>T	CA350845024	COL4A3,MFF-DT	c.1900G>T (p.Gly634Ter) n.423-4321C>A c.661G>T (p.Gly221Ter) n.2038G>T	ClinVar dbSNP COSMIC COSMIC
2	g.227273091G>A	CA350845025	COL4A3,MFF-DT	c.1901G>A (p.Gly634Glu) n.423-4322C>T c.662G>A (p.Gly221Glu) n.2039G>A	gnomAD v4
2	g.227273091G>C	CA350845027	COL4A3,MFF-DT	c.1901G>C (p.Gly634Ala) n.423-4322C>G c.662G>C (p.Gly221Ala) n.2039G>C
2	g.227273091G>T	CA350845026	COL4A3,MFF-DT	c.1901G>T (p.Gly634Val) n.423-4322C>A c.662G>T (p.Gly221Val) n.2039G>T
2	g.227273092A>C	CA431500883	COL4A3,MFF-DT	c.1902A>C (p.Gly634=) n.423-4323T>G c.663A>C (p.Gly221=) n.2040A>C
2	g.227273092A>G	CA431500884	COL4A3,MFF-DT	c.1902A>G (p.Gly634=) n.423-4323T>C c.663A>G (p.Gly221=) n.2040A>G	ClinVar
2	g.227273092A>T	CA431500885	COL4A3,MFF-DT	c.1902A>T (p.Gly634=) n.423-4323T>A c.663A>T (p.Gly221=) n.2040A>T
2	g.227273093G>A	CA350845028	COL4A3,MFF-DT	c.1903G>A (p.Ala635Thr) n.423-4324C>T c.664G>A (p.Ala222Thr) n.2041G>A
2	g.227273093G>C	CA350845029	COL4A3,MFF-DT	c.1903G>C (p.Ala635Pro) n.423-4324C>G c.664G>C (p.Ala222Pro) n.2041G>C
2	g.227273093G>T	CA350845030	COL4A3,MFF-DT	c.1903G>T (p.Ala635Ser) n.423-4324C>A c.664G>T (p.Ala222Ser) n.2041G>T
2	g.227273094C>A	CA350845031	COL4A3,MFF-DT	c.1904C>A (p.Ala635Asp) n.423-4325G>T c.665C>A (p.Ala222Asp) n.2042C>A	gnomAD v4
2	g.227273094C=	CA1332846450	COL4A3,MFF-DT	c.1904C= (p.Ala635=) n.423-4325G= c.665C= (p.Ala222=) n.2042C=
2	g.227273094C>G	CA350845032	COL4A3,MFF-DT	c.1904C>G (p.Ala635Gly) n.423-4325G>C c.665C>G (p.Ala222Gly) n.2042C>G
2	g.227273094C>T	CA350845033	COL4A3,MFF-DT	c.1904C>T (p.Ala635Val) n.423-4325G>A c.665C>T (p.Ala222Val) n.2042C>T	dbSNP gnomAD v3 gnomAD v4
2	g.227273098dup	CA2573135514	COL4A3,MFF-DT	c.1908dup (p.Gly637ArgfsTer9) n.423-4325dup c.669dup (p.Gly224ArgfsTer9) n.2046dup	ClinVar dbSNP
2	g.227273098del	CA2586971414	COL4A3,MFF-DT	c.1908del (p.Gly637AspfsTer?) n.423-4325del c.669del (p.Gly224AspfsTer?) n.2046del	gnomAD v4
2	g.227273095C>A	CA431500892	COL4A3,MFF-DT	c.1905C>A (p.Ala635=) n.423-4326G>T c.666C>A (p.Ala222=) n.2043C>A
2	g.227273095C>G	CA431500891	COL4A3,MFF-DT	c.1905C>G (p.Ala635=) n.423-4326G>C c.666C>G (p.Ala222=) n.2043C>G
2	g.227273095C>T	CA431500890	COL4A3,MFF-DT	c.1905C>T (p.Ala635=) n.423-4326G>A c.666C>T (p.Ala222=) n.2043C>T
2	g.227273096C>A	CA350845034	COL4A3,MFF-DT	c.1906C>A (p.Pro636Thr) n.423-4327G>T c.667C>A (p.Pro223Thr) n.2044C>A
2	g.227273096C=	CA1332846451	COL4A3,MFF-DT	c.1906C= (p.Pro636=) n.423-4327G= c.667C= (p.Pro223=) n.2044C=
2	g.227273096C>G	CA350845035	COL4A3,MFF-DT	c.1906C>G (p.Pro636Ala) n.423-4327G>C c.667C>G (p.Pro223Ala) n.2044C>G
2	g.227273096C>T	CA2146780	COL4A3,MFF-DT	c.1906C>T (p.Pro636Ser) n.423-4327G>A c.667C>T (p.Pro223Ser) n.2044C>T	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.227273097C>A	CA350845037	COL4A3,MFF-DT	c.1907C>A (p.Pro636His) n.423-4328G>T c.668C>A (p.Pro223His) n.2045C>A
2	g.227273097C>G	CA350845038	COL4A3,MFF-DT	c.1907C>G (p.Pro636Arg) n.423-4328G>C c.668C>G (p.Pro223Arg) n.2045C>G
2	g.227273097C>T	CA350845036	COL4A3,MFF-DT	c.1907C>T (p.Pro636Leu) n.423-4328G>A c.668C>T (p.Pro223Leu) n.2045C>T
2	g.227273098C>A	CA431500896	COL4A3,MFF-DT	c.1908C>A (p.Pro636=) n.423-4329G>T c.669C>A (p.Pro223=) n.2046C>A
2	g.227273098C=	CA1332846452	COL4A3,MFF-DT	c.1908C= (p.Pro636=) n.423-4329G= c.669C= (p.Pro223=) n.2046C=
2	g.227273098C>G	CA431500898	COL4A3,MFF-DT	c.1908C>G (p.Pro636=) n.423-4329G>C c.669C>G (p.Pro223=) n.2046C>G
2	g.227273098C>T	CA2146781	COL4A3,MFF-DT	c.1908C>T (p.Pro636=) n.423-4329G>A c.669C>T (p.Pro223=) n.2046C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.227273099G>A	CA2146782	COL4A3,MFF-DT	c.1909G>A (p.Gly637Arg) n.423-4330C>T c.670G>A (p.Gly224Arg) n.2047G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.227273099G>C	CA350845039	COL4A3,MFF-DT	c.1909G>C (p.Gly637Arg) n.423-4330C>G c.670G>C (p.Gly224Arg) n.2047G>C	ClinVar dbSNP
2	g.227273099G=	CA1332846453	COL4A3,MFF-DT	c.1909G= (p.Gly637=) n.423-4330C= c.670G= (p.Gly224=) n.2047G=
2	g.227273099G>T	CA350845040	COL4A3,MFF-DT	c.1909G>T (p.Gly637Ter) n.423-4330C>A c.670G>T (p.Gly224Ter) n.2047G>T
2	g.227273100G>A	CA350845041	COL4A3,MFF-DT	c.1910G>A (p.Gly637Glu) n.423-4331C>T c.671G>A (p.Gly224Glu) n.2048G>A
2	g.227273100G>C	CA350845042	COL4A3,MFF-DT	c.1910G>C (p.Gly637Ala) n.423-4331C>G c.671G>C (p.Gly224Ala) n.2048G>C
2	g.227273100G>T	CA350845043	COL4A3,MFF-DT	c.1910G>T (p.Gly637Val) n.423-4331C>A c.671G>T (p.Gly224Val) n.2048G>T
2	g.227273101A=	CA1332846454	COL4A3,MFF-DT	c.1911A= (p.Gly637=) n.423-4332T= c.672A= (p.Gly224=) n.2049A=
2	g.227273101A>C	CA431500904	COL4A3,MFF-DT	c.1911A>C (p.Gly637=) n.423-4332T>G c.672A>C (p.Gly224=) n.2049A>C
2	g.227273101A>G	CA431500905	COL4A3,MFF-DT	c.1911A>G (p.Gly637=) n.423-4332T>C c.672A>G (p.Gly224=) n.2049A>G	ClinVar dbSNP
2	g.227273101A>T	CA431500906	COL4A3,MFF-DT	c.1911A>T (p.Gly637=) n.423-4332T>A c.672A>T (p.Gly224=) n.2049A>T	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.227273102C>A	CA350845044	COL4A3,MFF-DT	c.1912C>A (p.Pro638Thr) n.423-4333G>T c.673C>A (p.Pro225Thr) n.2050C>A	dbSNP
2	g.227273102C=	CA1332846455	COL4A3,MFF-DT	c.1912C= (p.Pro638=) n.423-4333G= c.673C= (p.Pro225=) n.2050C=
2	g.227273102C>G	CA350845045	COL4A3,MFF-DT	c.1912C>G (p.Pro638Ala) n.423-4333G>C c.673C>G (p.Pro225Ala) n.2050C>G
2	g.227273102C>T	CA2146783	COL4A3,MFF-DT	c.1912C>T (p.Pro638Ser) n.423-4333G>A c.673C>T (p.Pro225Ser) n.2050C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.227273103C>A	CA350845046	COL4A3,MFF-DT	c.1913C>A (p.Pro638Gln) n.423-4334G>T c.674C>A (p.Pro225Gln) n.2051C>A

Number of alleles fetched