Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.227276389_227276390delinsTA	CA1332847923	COL4A3,MFF-DT	c.1932_1933delinsTA (p.Pro644=) n.422+3093_422+3094delinsTA c.693_694delinsTA (p.Pro231=) n.2070_2071delinsTA
2	g.227276390del	CA891842464	COL4A3,MFF-DT	c.1933del (p.Arg645GlyfsTer?) n.422+3093del c.694del (p.Arg232GlyfsTer?) n.2071del	ClinVar dbSNP gnomAD v4
2	g.227276390A=	CA1332847924	COL4A3,MFF-DT	c.1933A= (p.Arg645=) n.422+3093T= c.694A= (p.Arg232=) n.2071A=
2	g.227276390A>C	CA431500990	COL4A3,MFF-DT	c.1933A>C (p.Arg645=) n.422+3093T>G c.694A>C (p.Arg232=) n.2071A>C
2	g.227276390A>G	CA350846036	COL4A3,MFF-DT	c.1933A>G (p.Arg645Gly) n.422+3093T>C c.694A>G (p.Arg232Gly) n.2071A>G
2	g.227276390A>T	CA350846041	COL4A3,MFF-DT	c.1933A>T (p.Arg645Trp) n.422+3093T>A c.694A>T (p.Arg232Trp) n.2071A>T	gnomAD v4
2	g.227276391G>A	CA350846048	COL4A3,MFF-DT	c.1934G>A (p.Arg645Lys) n.422+3092C>T c.695G>A (p.Arg232Lys) n.2072G>A
2	g.227276391G>C	CA350846051	COL4A3,MFF-DT	c.1934G>C (p.Arg645Thr) n.422+3092C>G c.695G>C (p.Arg232Thr) n.2072G>C
2	g.227276391G>T	CA350846054	COL4A3,MFF-DT	c.1934G>T (p.Arg645Met) n.422+3092C>A c.695G>T (p.Arg232Met) n.2072G>T
2	g.227276394dup	CA2146810	COL4A3,MFF-DT	c.1937dup (p.Glu647ArgfsTer?) n.422+3092dup c.698dup (p.Glu234ArgfsTer?) n.2075dup	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.227276392G>A	CA431500995	COL4A3,MFF-DT	c.1935G>A (p.Arg645=) n.422+3091C>T c.696G>A (p.Arg232=) n.2073G>A	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.227276392G>C	CA350846061	COL4A3,MFF-DT	c.1935G>C (p.Arg645Ser) n.422+3091C>G c.696G>C (p.Arg232Ser) n.2073G>C
2	g.227276392G=	CA1332847925	COL4A3,MFF-DT	c.1935G= (p.Arg645=) n.422+3091C= c.696G= (p.Arg232=) n.2073G=
2	g.227276392G>T	CA350846058	COL4A3,MFF-DT	c.1935G>T (p.Arg645Ser) n.422+3091C>A c.696G>T (p.Arg232Ser) n.2073G>T
2	g.227276393G>A	CA350846063	COL4A3,MFF-DT	c.1936G>A (p.Gly646Arg) n.422+3090C>T c.697G>A (p.Gly233Arg) n.2074G>A
2	g.227276393G>C	CA350846067	COL4A3,MFF-DT	c.1936G>C (p.Gly646Arg) n.422+3090C>G c.697G>C (p.Gly233Arg) n.2074G>C
2	g.227276393G>T	CA350846070	COL4A3,MFF-DT	c.1936G>T (p.Gly646Ter) n.422+3090C>A c.697G>T (p.Gly233Ter) n.2074G>T
2	g.227276393_227276401dup	CA1043060656	COL4A3,MFF-DT	c.1936_1944dup (p.Leu648_Ser649insGlyGluLeu) n.422+3082_422+3090dup c.697_705dup (p.Leu235_Ser236insGlyGluLeu) n.2074_2082dup	dbSNP gnomAD v3 gnomAD v4
2	g.227276394G>A	CA350846074	COL4A3,MFF-DT	c.1937G>A (p.Gly646Glu) n.422+3089C>T c.698G>A (p.Gly233Glu) n.2075G>A	ClinVar dbSNP
2	g.227276394G>C	CA350846076	COL4A3,MFF-DT	c.1937G>C (p.Gly646Ala) n.422+3089C>G c.698G>C (p.Gly233Ala) n.2075G>C
2	g.227276394G>T	CA350846080	COL4A3,MFF-DT	c.1937G>T (p.Gly646Val) n.422+3089C>A c.698G>T (p.Gly233Val) n.2075G>T
2	g.227276395A>C	CA431500999	COL4A3,MFF-DT	c.1938A>C (p.Gly646=) n.422+3088T>G c.699A>C (p.Gly233=) n.2076A>C	gnomAD v4
2	g.227276395A>G	CA431501001	COL4A3,MFF-DT	c.1938A>G (p.Gly646=) n.422+3088T>C c.699A>G (p.Gly233=) n.2076A>G
2	g.227276395A>T	CA431501000	COL4A3,MFF-DT	c.1938A>T (p.Gly646=) n.422+3088T>A c.699A>T (p.Gly233=) n.2076A>T
2	g.227276396G>A	CA350846090	COL4A3,MFF-DT	c.1939G>A (p.Glu647Lys) n.422+3087C>T c.700G>A (p.Glu234Lys) n.2077G>A
2	g.227276396G>C	CA350846092	COL4A3,MFF-DT	c.1939G>C (p.Glu647Gln) n.422+3087C>G c.700G>C (p.Glu234Gln) n.2077G>C	gnomAD v4
2	g.227276396G>T	CA350846095	COL4A3,MFF-DT	c.1939G>T (p.Glu647Ter) n.422+3087C>A c.700G>T (p.Glu234Ter) n.2077G>T
2	g.227276397A>C	CA350846098	COL4A3,MFF-DT	c.1940A>C (p.Glu647Ala) n.422+3086T>G c.701A>C (p.Glu234Ala) n.2078A>C	dbSNP
2	g.227276397A>G	CA350846101	COL4A3,MFF-DT	c.1940A>G (p.Glu647Gly) n.422+3086T>C c.701A>G (p.Glu234Gly) n.2078A>G
2	g.227276397A>T	CA350846103	COL4A3,MFF-DT	c.1940A>T (p.Glu647Val) n.422+3086T>A c.701A>T (p.Glu234Val) n.2078A>T
2	g.227276398G>A	CA431501004	COL4A3,MFF-DT	c.1941G>A (p.Glu647=) n.422+3085C>T c.702G>A (p.Glu234=) n.2079G>A
2	g.227276398G>C	CA350846110	COL4A3,MFF-DT	c.1941G>C (p.Glu647Asp) n.422+3085C>G c.702G>C (p.Glu234Asp) n.2079G>C
2	g.227276398G>T	CA350846107	COL4A3,MFF-DT	c.1941G>T (p.Glu647Asp) n.422+3085C>A c.702G>T (p.Glu234Asp) n.2079G>T
2	g.227276399C>A	CA350846113	COL4A3,MFF-DT	c.1942C>A (p.Leu648Ile) n.422+3084G>T c.703C>A (p.Leu235Ile) n.2080C>A	dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
2	g.227276399C=	CA1332847926	COL4A3,MFF-DT	c.1942C= (p.Leu648=) n.422+3084G= c.703C= (p.Leu235=) n.2080C=
2	g.227276399C>G	CA350846115	COL4A3,MFF-DT	c.1942C>G (p.Leu648Val) n.422+3084G>C c.703C>G (p.Leu235Val) n.2080C>G
2	g.227276399C>T	CA350846119	COL4A3,MFF-DT	c.1942C>T (p.Leu648Phe) n.422+3084G>A c.703C>T (p.Leu235Phe) n.2080C>T	dbSNP gnomAD v4
2	g.227276400T>A	CA350846122	COL4A3,MFF-DT	c.1943T>A (p.Leu648His) n.422+3083A>T c.704T>A (p.Leu235His) n.2081T>A
2	g.227276400T>C	CA350846125	COL4A3,MFF-DT	c.1943T>C (p.Leu648Pro) n.422+3083A>G c.704T>C (p.Leu235Pro) n.2081T>C
2	g.227276400T>G	CA350846126	COL4A3,MFF-DT	c.1943T>G (p.Leu648Arg) n.422+3083A>C c.704T>G (p.Leu235Arg) n.2081T>G
2	g.227276401C>A	CA431501008	COL4A3,MFF-DT	c.1944C>A (p.Leu648=) n.422+3082G>T c.705C>A (p.Leu235=) n.2082C>A
2	g.227276401C=	CA1332847927	COL4A3,MFF-DT	c.1944C= (p.Leu648=) n.422+3082G= c.705C= (p.Leu235=) n.2082C=
2	g.227276401C>G	CA431501009	COL4A3,MFF-DT	c.1944C>G (p.Leu648=) n.422+3082G>C c.705C>G (p.Leu235=) n.2082C>G
2	g.227276401C>T	CA2146811	COL4A3,MFF-DT	c.1944C>T (p.Leu648=) n.422+3082G>A c.705C>T (p.Leu235=) n.2082C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.227276401_227276402dup	CA2499830673	COL4A3,MFF-DT	c.1944_1945dup (p.Ser649ThrfsTer?) n.422+3081_422+3082dup c.705_706dup (p.Ser236ThrfsTer?) n.2082_2083dup
2	g.227276402A=	CA1332847928	COL4A3,MFF-DT	c.1945A= (p.Ser649=) n.422+3081T= c.706A= (p.Ser236=) n.2083A=
2	g.227276402A>C	CA350846131	COL4A3,MFF-DT	c.1945A>C (p.Ser649Arg) n.422+3081T>G c.706A>C (p.Ser236Arg) n.2083A>C
2	g.227276402A>G	CA350846135	COL4A3,MFF-DT	c.1945A>G (p.Ser649Gly) n.422+3081T>C c.706A>G (p.Ser236Gly) n.2083A>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.227276402A>T	CA350846138	COL4A3,MFF-DT	c.1945A>T (p.Ser649Cys) n.422+3081T>A c.706A>T (p.Ser236Cys) n.2083A>T
2	g.227276403G>A	CA350846141	COL4A3,MFF-DT	c.1946G>A (p.Ser649Asn) n.422+3080C>T c.707G>A (p.Ser236Asn) n.2084G>A
2	g.227276403G>C	CA350846145	COL4A3,MFF-DT	c.1946G>C (p.Ser649Thr) n.422+3080C>G c.707G>C (p.Ser236Thr) n.2084G>C
2	g.227276403G>T	CA350846148	COL4A3,MFF-DT	c.1946G>T (p.Ser649Ile) n.422+3080C>A c.707G>T (p.Ser236Ile) n.2084G>T
2	g.227276404T>A	CA350846156	COL4A3,MFF-DT	c.1947T>A (p.Ser649Arg) n.422+3079A>T c.708T>A (p.Ser236Arg) n.2085T>A
2	g.227276404T>C	CA2146812	COL4A3,MFF-DT	c.1947T>C (p.Ser649=) n.422+3079A>G c.708T>C (p.Ser236=) n.2085T>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.227276404T>G	CA350846152	COL4A3,MFF-DT	c.1947T>G (p.Ser649Arg) n.422+3079A>C c.708T>G (p.Ser236Arg) n.2085T>G
2	g.227276404T=	CA1332847929	COL4A3,MFF-DT	c.1947T= (p.Ser649=) n.422+3079A= c.708T= (p.Ser236=) n.2085T=
2	g.227276405G>A	CA350846163	COL4A3,MFF-DT	c.1948G>A (p.Val650Ile) n.422+3078C>T c.709G>A (p.Val237Ile) n.2086G>A
2	g.227276405G>C	CA350846165	COL4A3,MFF-DT	c.1948G>C (p.Val650Leu) n.422+3078C>G c.709G>C (p.Val237Leu) n.2086G>C
2	g.227276405G>T	CA350846167	COL4A3,MFF-DT	c.1948G>T (p.Val650Phe) n.422+3078C>A c.709G>T (p.Val237Phe) n.2086G>T
2	g.227276406T>A	CA350846170	COL4A3,MFF-DT	c.1949T>A (p.Val650Asp) n.422+3077A>T c.710T>A (p.Val237Asp) n.2087T>A
2	g.227276406T>C	CA350846173	COL4A3,MFF-DT	c.1949T>C (p.Val650Ala) n.422+3077A>G c.710T>C (p.Val237Ala) n.2087T>C	dbSNP
2	g.227276406T>G	CA350846175	COL4A3,MFF-DT	c.1949T>G (p.Val650Gly) n.422+3077A>C c.710T>G (p.Val237Gly) n.2087T>G
2	g.227276406T=	CA1332847930	COL4A3,MFF-DT	c.1949T= (p.Val650=) n.422+3077A= c.710T= (p.Val237=) n.2087T=
2	g.227276407T>A	CA431501010	COL4A3,MFF-DT	c.1950T>A (p.Val650=) n.422+3076A>T c.711T>A (p.Val237=) n.2088T>A
2	g.227276407T>C	CA431501011	COL4A3,MFF-DT	c.1950T>C (p.Val650=) n.422+3076A>G c.711T>C (p.Val237=) n.2088T>C
2	g.227276407T>G	CA431501012	COL4A3,MFF-DT	c.1950T>G (p.Val650=) n.422+3076A>C c.711T>G (p.Val237=) n.2088T>G	ClinVar dbSNP
2	g.227276408T>A	CA350846179	COL4A3,MFF-DT	c.1951T>A (p.Ser651Thr) n.422+3075A>T c.712T>A (p.Ser238Thr) n.2089T>A
2	g.227276408T>C	CA350846182	COL4A3,MFF-DT	c.1951T>C (p.Ser651Pro) n.422+3075A>G c.712T>C (p.Ser238Pro) n.2089T>C
2	g.227276408T>G	CA350846183	COL4A3,MFF-DT	c.1951T>G (p.Ser651Ala) n.422+3075A>C c.712T>G (p.Ser238Ala) n.2089T>G
2	g.227276409C>A	CA350846186	COL4A3,MFF-DT	c.1952C>A (p.Ser651Ter) n.422+3074G>T c.713C>A (p.Ser238Ter) n.2090C>A
2	g.227276409C=	CA1332847931	COL4A3,MFF-DT	c.1952C= (p.Ser651=) n.422+3074G= c.713C= (p.Ser238=) n.2090C=
2	g.227276409C>G	CA66595995	COL4A3,MFF-DT	c.1952C>G (p.Ser651Ter) n.422+3074G>C c.713C>G (p.Ser238Ter) n.2090C>G	dbSNP gnomAD v3 gnomAD v4
2	g.227276409C>T	CA350846191	COL4A3,MFF-DT	c.1952C>T (p.Ser651Leu) n.422+3074G>A c.713C>T (p.Ser238Leu) n.2090C>T
2	g.227276410A>C	CA431501015	COL4A3,MFF-DT	c.1953A>C (p.Ser651=) n.422+3073T>G c.714A>C (p.Ser238=) n.2091A>C
2	g.227276410A>G	CA431501013	COL4A3,MFF-DT	c.1953A>G (p.Ser651=) n.422+3073T>C c.714A>G (p.Ser238=) n.2091A>G
2	g.227276410A>T	CA431501014	COL4A3,MFF-DT	c.1953A>T (p.Ser651=) n.422+3073T>A c.714A>T (p.Ser238=) n.2091A>T
2	g.227276410_227276433delinsAACACCAGTTCCAGGCCCACCAGG	CA1332847932	COL4A3,MFF-DT	c.1953_1976delinsAACACCAGTTCCAGGCCCACCAGG (p.Ser651=) n.422+3050_422+3073delinsCCTGGTGGGCCTGGAACTGGTGTT c.714_737delinsAACACCAGTTCCAGGCCCACCAGG (p.Ser238=) n.2091_2114delinsAACACCAGTTCCAGGCCCACCAGG
2	g.227276411A>C	CA350846202	COL4A3,MFF-DT	c.1954A>C (p.Thr652Pro) n.422+3072T>G c.715A>C (p.Thr239Pro) n.2092A>C
2	g.227276411A>G	CA350846199	COL4A3,MFF-DT	c.1954A>G (p.Thr652Ala) n.422+3072T>C c.715A>G (p.Thr239Ala) n.2092A>G
2	g.227276411A>T	CA350846195	COL4A3,MFF-DT	c.1954A>T (p.Thr652Ser) n.422+3072T>A c.715A>T (p.Thr239Ser) n.2092A>T
2	g.227276413_227276435del	CA1139657726	COL4A3,MFF-DT	c.1956_1978del (p.Pro653SerfsTer?) n.422+3050_422+3072del c.717_739del (p.Pro240SerfsTer?) n.2094_2116del	ClinVar dbSNP
2	g.227276412C>A	CA350846206	COL4A3,MFF-DT	c.1955C>A (p.Thr652Lys) n.422+3071G>T c.716C>A (p.Thr239Lys) n.2093C>A
2	g.227276412C>G	CA350846211	COL4A3,MFF-DT	c.1955C>G (p.Thr652Arg) n.422+3071G>C c.716C>G (p.Thr239Arg) n.2093C>G
2	g.227276412C>T	CA350846208	COL4A3,MFF-DT	c.1955C>T (p.Thr652Ile) n.422+3071G>A c.716C>T (p.Thr239Ile) n.2093C>T	gnomAD v4
2	g.227276413A>C	CA431501016	COL4A3,MFF-DT	c.1956A>C (p.Thr652=) n.422+3070T>G c.717A>C (p.Thr239=) n.2094A>C	ClinVar
2	g.227276413A>G	CA431501017	COL4A3,MFF-DT	c.1956A>G (p.Thr652=) n.422+3070T>C c.717A>G (p.Thr239=) n.2094A>G
2	g.227276413A>T	CA431501018	COL4A3,MFF-DT	c.1956A>T (p.Thr652=) n.422+3070T>A c.717A>T (p.Thr239=) n.2094A>T
2	g.227276414C>A	CA350846213	COL4A3,MFF-DT	c.1957C>A (p.Pro653Thr) n.422+3069G>T c.718C>A (p.Pro240Thr) n.2095C>A	ClinVar dbSNP gnomAD v4
2	g.227276414C=	CA1332847933	COL4A3,MFF-DT	c.1957C= (p.Pro653=) n.422+3069G= c.718C= (p.Pro240=) n.2095C=
2	g.227276414C>G	CA350846216	COL4A3,MFF-DT	c.1957C>G (p.Pro653Ala) n.422+3069G>C c.718C>G (p.Pro240Ala) n.2095C>G
2	g.227276414C>T	CA350846218	COL4A3,MFF-DT	c.1957C>T (p.Pro653Ser) n.422+3069G>A c.718C>T (p.Pro240Ser) n.2095C>T	dbSNP
2	g.227276415C>A	CA350846221	COL4A3,MFF-DT	c.1958C>A (p.Pro653Gln) n.422+3068G>T c.719C>A (p.Pro240Gln) n.2096C>A
2	g.227276415C>G	CA350846223	COL4A3,MFF-DT	c.1958C>G (p.Pro653Arg) n.422+3068G>C c.719C>G (p.Pro240Arg) n.2096C>G
2	g.227276415C>T	CA350846224	COL4A3,MFF-DT	c.1958C>T (p.Pro653Leu) n.422+3068G>A c.719C>T (p.Pro240Leu) n.2096C>T
2	g.227276416A>C	CA431501019	COL4A3,MFF-DT	c.1959A>C (p.Pro653=) n.422+3067T>G c.720A>C (p.Pro240=) n.2097A>C
2	g.227276416A>G	CA431501020	COL4A3,MFF-DT	c.1959A>G (p.Pro653=) n.422+3067T>C c.720A>G (p.Pro240=) n.2097A>G
2	g.227276416A>T	CA431501021	COL4A3,MFF-DT	c.1959A>T (p.Pro653=) n.422+3067T>A c.720A>T (p.Pro240=) n.2097A>T
2	g.227276417G>A	CA350846229	COL4A3,MFF-DT	c.1960G>A (p.Val654Ile) n.422+3066C>T c.721G>A (p.Val241Ile) n.2098G>A	dbSNP gnomAD v2 gnomAD v4
2	g.227276417G>C	CA350846228	COL4A3,MFF-DT	c.1960G>C (p.Val654Leu) n.422+3066C>G c.721G>C (p.Val241Leu) n.2098G>C	dbSNP
2	g.227276417G=	CA1332847934	COL4A3,MFF-DT	c.1960G= (p.Val654=) n.422+3066C= c.721G= (p.Val241=) n.2098G=
2	g.227276417G>T	CA350846227	COL4A3,MFF-DT	c.1960G>T (p.Val654Phe) n.422+3066C>A c.721G>T (p.Val241Phe) n.2098G>T
2	g.227276418T>A	CA350846235	COL4A3,MFF-DT	c.1961T>A (p.Val654Asp) n.422+3065A>T c.722T>A (p.Val241Asp) n.2099T>A
2	g.227276418T>C	CA350846236	COL4A3,MFF-DT	c.1961T>C (p.Val654Ala) n.422+3065A>G c.722T>C (p.Val241Ala) n.2099T>C	gnomAD v4
2	g.227276418T>G	CA350846239	COL4A3,MFF-DT	c.1961T>G (p.Val654Gly) n.422+3065A>C c.722T>G (p.Val241Gly) n.2099T>G
2	g.227276419T>A	CA431501022	COL4A3,MFF-DT	c.1962T>A (p.Val654=) n.422+3064A>T c.723T>A (p.Val241=) n.2100T>A
2	g.227276419T>C	CA431501023	COL4A3,MFF-DT	c.1962T>C (p.Val654=) n.422+3064A>G c.723T>C (p.Val241=) n.2100T>C
2	g.227276419T>G	CA431501024	COL4A3,MFF-DT	c.1962T>G (p.Val654=) n.422+3064A>C c.723T>G (p.Val241=) n.2100T>G
2	g.227276419_227276428delinsTCCAGGCCCA	CA1332847935	COL4A3,MFF-DT	c.1962_1971delinsTCCAGGCCCA (p.Val654=) n.422+3055_422+3064delinsTGGGCCTGGA c.723_732delinsTCCAGGCCCA (p.Val241=) n.2100_2109delinsTCCAGGCCCA
2	g.227276420C>A	CA350846242	COL4A3,MFF-DT	c.1963C>A (p.Pro655Thr) n.422+3063G>T c.724C>A (p.Pro242Thr) n.2101C>A
2	g.227276420C=	CA1332847936	COL4A3,MFF-DT	c.1963C= (p.Pro655=) n.422+3063G= c.724C= (p.Pro242=) n.2101C=
2	g.227276420C>G	CA350846243	COL4A3,MFF-DT	c.1963C>G (p.Pro655Ala) n.422+3063G>C c.724C>G (p.Pro242Ala) n.2101C>G
2	g.227276420C>T	CA2146813	COL4A3,MFF-DT	c.1963C>T (p.Pro655Ser) n.422+3063G>A c.724C>T (p.Pro242Ser) n.2101C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.227276425_227276433del	CA765693432	COL4A3,MFF-DT	c.1968_1976del (p.Pro657_Gly659del) n.422+3055_422+3063del c.729_737del (p.Pro244_Gly246del) n.2106_2114del	dbSNP gnomAD v3 gnomAD v4
2	g.227276421C>A	CA350846247	COL4A3,MFF-DT	c.1964C>A (p.Pro655Gln) n.422+3062G>T c.725C>A (p.Pro242Gln) n.2102C>A
2	g.227276421C>G	CA350846255	COL4A3,MFF-DT	c.1964C>G (p.Pro655Arg) n.422+3062G>C c.725C>G (p.Pro242Arg) n.2102C>G
2	g.227276421C>T	CA350846250	COL4A3,MFF-DT	c.1964C>T (p.Pro655Leu) n.422+3062G>A c.725C>T (p.Pro242Leu) n.2102C>T	COSMIC COSMIC
2	g.227276422A>C	CA431501026	COL4A3,MFF-DT	c.1965A>C (p.Pro655=) n.422+3061T>G c.726A>C (p.Pro242=) n.2103A>C
2	g.227276422A>G	CA431501027	COL4A3,MFF-DT	c.1965A>G (p.Pro655=) n.422+3061T>C c.726A>G (p.Pro242=) n.2103A>G
2	g.227276422A>T	CA431501028	COL4A3,MFF-DT	c.1965A>T (p.Pro655=) n.422+3061T>A c.726A>T (p.Pro242=) n.2103A>T
2	g.227276423G>A	CA350846259	COL4A3,MFF-DT	c.1966G>A (p.Gly656Ser) n.422+3060C>T c.727G>A (p.Gly243Ser) n.2104G>A
2	g.227276423G>C	CA350846262	COL4A3,MFF-DT	c.1966G>C (p.Gly656Arg) n.422+3060C>G c.727G>C (p.Gly243Arg) n.2104G>C
2	g.227276423G>T	CA350846265	COL4A3,MFF-DT	c.1966G>T (p.Gly656Cys) n.422+3060C>A c.727G>T (p.Gly243Cys) n.2104G>T
2	g.227276424del	CA2529709357	COL4A3,MFF-DT	c.1967del (p.Gly656AlafsTer?) n.422+3060del c.728del (p.Gly243AlafsTer?) n.2105del
2	g.227276424G>A	CA350846270	COL4A3,MFF-DT	c.1967G>A (p.Gly656Asp) n.422+3059C>T c.728G>A (p.Gly243Asp) n.2105G>A
2	g.227276424G>C	CA350846273	COL4A3,MFF-DT	c.1967G>C (p.Gly656Ala) n.422+3059C>G c.728G>C (p.Gly243Ala) n.2105G>C
2	g.227276424G>T	CA350846275	COL4A3,MFF-DT	c.1967G>T (p.Gly656Val) n.422+3059C>A c.728G>T (p.Gly243Val) n.2105G>T
2	g.227276425C>A	CA431501030	COL4A3,MFF-DT	c.1968C>A (p.Gly656=) n.422+3058G>T c.729C>A (p.Gly243=) n.2106C>A	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.227276425C=	CA1332847937	COL4A3,MFF-DT	c.1968C= (p.Gly656=) n.422+3058G= c.729C= (p.Gly243=) n.2106C=
2	g.227276425C>G	CA431501031	COL4A3,MFF-DT	c.1968C>G (p.Gly656=) n.422+3058G>C c.729C>G (p.Gly243=) n.2106C>G
2	g.227276425C>T	CA431501032	COL4A3,MFF-DT	c.1968C>T (p.Gly656=) n.422+3058G>A c.729C>T (p.Gly243=) n.2106C>T
2	g.227276426C>A	CA350846278	COL4A3,MFF-DT	c.1969C>A (p.Pro657Thr) n.422+3057G>T c.730C>A (p.Pro244Thr) n.2107C>A
2	g.227276426C>G	CA350846280	COL4A3,MFF-DT	c.1969C>G (p.Pro657Ala) n.422+3057G>C c.730C>G (p.Pro244Ala) n.2107C>G
2	g.227276426C>T	CA350846281	COL4A3,MFF-DT	c.1969C>T (p.Pro657Ser) n.422+3057G>A c.730C>T (p.Pro244Ser) n.2107C>T	ClinVar
2	g.227276427C>A	CA350846282	COL4A3,MFF-DT	c.1970C>A (p.Pro657Gln) n.422+3056G>T c.731C>A (p.Pro244Gln) n.2108C>A
2	g.227276427C>G	CA350846283	COL4A3,MFF-DT	c.1970C>G (p.Pro657Arg) n.422+3056G>C c.731C>G (p.Pro244Arg) n.2108C>G
2	g.227276427C>T	CA350846284	COL4A3,MFF-DT	c.1970C>T (p.Pro657Leu) n.422+3056G>A c.731C>T (p.Pro244Leu) n.2108C>T	ClinVar dbSNP
2	g.227276428A>C	CA431501037	COL4A3,MFF-DT	c.1971A>C (p.Pro657=) n.422+3055T>G c.732A>C (p.Pro244=) n.2109A>C
2	g.227276428A>G	CA431501038	COL4A3,MFF-DT	c.1971A>G (p.Pro657=) n.422+3055T>C c.732A>G (p.Pro244=) n.2109A>G
2	g.227276428A>T	CA431501039	COL4A3,MFF-DT	c.1971A>T (p.Pro657=) n.422+3055T>A c.732A>T (p.Pro244=) n.2109A>T
2	g.227276429C>A	CA350846286	COL4A3,MFF-DT	c.1972C>A (p.Pro658Thr) n.422+3054G>T c.733C>A (p.Pro245Thr) n.2110C>A
2	g.227276429C=	CA1332847938	COL4A3,MFF-DT	c.1972C= (p.Pro658=) n.422+3054G= c.733C= (p.Pro245=) n.2110C=
2	g.227276429C>G	CA2146814	COL4A3,MFF-DT	c.1972C>G (p.Pro658Ala) n.422+3054G>C c.733C>G (p.Pro245Ala) n.2110C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.227276429C>T	CA350846287	COL4A3,MFF-DT	c.1972C>T (p.Pro658Ser) n.422+3054G>A c.733C>T (p.Pro245Ser) n.2110C>T	ClinVar dbSNP
2	g.227276430C>A	CA350846291	COL4A3,MFF-DT	c.1973C>A (p.Pro658Gln) n.422+3053G>T c.734C>A (p.Pro245Gln) n.2111C>A
2	g.227276430C=	CA1332847939	COL4A3,MFF-DT	c.1973C= (p.Pro658=) n.422+3053G= c.734C= (p.Pro245=) n.2111C=
2	g.227276430C>G	CA350846295	COL4A3,MFF-DT	c.1973C>G (p.Pro658Arg) n.422+3053G>C c.734C>G (p.Pro245Arg) n.2111C>G
2	g.227276430C>T	CA2146815	COL4A3,MFF-DT	c.1973C>T (p.Pro658Leu) n.422+3053G>A c.734C>T (p.Pro245Leu) n.2111C>T	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.227276431A>C	CA431501045	COL4A3,MFF-DT	c.1974A>C (p.Pro658=) n.422+3052T>G c.735A>C (p.Pro245=) n.2112A>C
2	g.227276431A>G	CA431501043	COL4A3,MFF-DT	c.1974A>G (p.Pro658=) n.422+3052T>C c.735A>G (p.Pro245=) n.2112A>G	ClinVar
2	g.227276431A>T	CA431501044	COL4A3,MFF-DT	c.1974A>T (p.Pro658=) n.422+3052T>A c.735A>T (p.Pro245=) n.2112A>T
2	g.227276432G>A	CA350846301	COL4A3,MFF-DT	c.1975G>A (p.Gly659Arg) n.422+3051C>T c.736G>A (p.Gly246Arg) n.2113G>A
2	g.227276432G>C	CA350846304	COL4A3,MFF-DT	c.1975G>C (p.Gly659Arg) n.422+3051C>G c.736G>C (p.Gly246Arg) n.2113G>C
2	g.227276432G>T	CA350846307	COL4A3,MFF-DT	c.1975G>T (p.Gly659Ter) n.422+3051C>A c.736G>T (p.Gly246Ter) n.2113G>T	COSMIC COSMIC
2	g.227276433G>A	CA350846311	COL4A3,MFF-DT	c.1976G>A (p.Gly659Glu) n.422+3050C>T c.737G>A (p.Gly246Glu) n.2114G>A	ClinVar dbSNP
2	g.227276433G>C	CA350846313	COL4A3,MFF-DT	c.1976G>C (p.Gly659Ala) n.422+3050C>G c.737G>C (p.Gly246Ala) n.2114G>C
2	g.227276433G=	CA1332847940	COL4A3,MFF-DT	c.1976G= (p.Gly659=) n.422+3050C= c.737G= (p.Gly246=) n.2114G=
2	g.227276433G>T	CA350846315	COL4A3,MFF-DT	c.1976G>T (p.Gly659Val) n.422+3050C>A c.737G>T (p.Gly246Val) n.2114G>T
2	g.227276434A=	CA1332847941	COL4A3,MFF-DT	c.1977A= (p.Gly659=) n.422+3049T= c.738A= (p.Gly246=) n.2115A=
2	g.227276434A>C	CA431501047	COL4A3,MFF-DT	c.1977A>C (p.Gly659=) n.422+3049T>G c.738A>C (p.Gly246=) n.2115A>C	ClinVar dbSNP
2	g.227276434A>G	CA431501048	COL4A3,MFF-DT	c.1977A>G (p.Gly659=) n.422+3049T>C c.738A>G (p.Gly246=) n.2115A>G	ClinVar
2	g.227276434A>T	CA431501049	COL4A3,MFF-DT	c.1977A>T (p.Gly659=) n.422+3049T>A c.738A>T (p.Gly246=) n.2115A>T	ClinVar dbSNP
2	g.227276435C>A	CA2146816	COL4A3,MFF-DT	c.1978C>A (p.Pro660Thr) n.422+3048G>T c.739C>A (p.Pro247Thr) n.2116C>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.227276435C=	CA1332847942	COL4A3,MFF-DT	c.1978C= (p.Pro660=) n.422+3048G= c.739C= (p.Pro247=) n.2116C=
2	g.227276435C>G	CA350846320	COL4A3,MFF-DT	c.1978C>G (p.Pro660Ala) n.422+3048G>C c.739C>G (p.Pro247Ala) n.2116C>G
2	g.227276435C>T	CA350846322	COL4A3,MFF-DT	c.1978C>T (p.Pro660Ser) n.422+3048G>A c.739C>T (p.Pro247Ser) n.2116C>T
2	g.227276436C>A	CA350846332	COL4A3,MFF-DT	c.1979C>A (p.Pro660His) n.422+3047G>T c.740C>A (p.Pro247His) n.2117C>A
2	g.227276436C=	CA1332847943	COL4A3,MFF-DT	c.1979C= (p.Pro660=) n.422+3047G= c.740C= (p.Pro247=) n.2117C=
2	g.227276436C>G	CA350846328	COL4A3,MFF-DT	c.1979C>G (p.Pro660Arg) n.422+3047G>C c.740C>G (p.Pro247Arg) n.2117C>G
2	g.227276436C>T	CA350846325	COL4A3,MFF-DT	c.1979C>T (p.Pro660Leu) n.422+3047G>A c.740C>T (p.Pro247Leu) n.2117C>T	dbSNP
2	g.227276437T>A	CA431501053	COL4A3,MFF-DT	c.1980T>A (p.Pro660=) n.422+3046A>T c.741T>A (p.Pro247=) n.2118T>A
2	g.227276437T>C	CA431501054	COL4A3,MFF-DT	c.1980T>C (p.Pro660=) n.422+3046A>G c.741T>C (p.Pro247=) n.2118T>C
2	g.227276437T>G	CA431501055	COL4A3,MFF-DT	c.1980T>G (p.Pro660=) n.422+3046A>C c.741T>G (p.Pro247=) n.2118T>G
2	g.227276438C>A	CA350846334	COL4A3,MFF-DT	c.1981C>A (p.Pro661Thr) n.422+3045G>T c.742C>A (p.Pro248Thr) n.2119C>A
2	g.227276438C>G	CA350846336	COL4A3,MFF-DT	c.1981C>G (p.Pro661Ala) n.422+3045G>C c.742C>G (p.Pro248Ala) n.2119C>G
2	g.227276438C>T	CA350846338	COL4A3,MFF-DT	c.1981C>T (p.Pro661Ser) n.422+3045G>A c.742C>T (p.Pro248Ser) n.2119C>T	COSMIC COSMIC
2	g.227276439C>A	CA350846340	COL4A3,MFF-DT	c.1982C>A (p.Pro661Gln) n.422+3044G>T c.743C>A (p.Pro248Gln) n.2120C>A
2	g.227276439C>G	CA350846343	COL4A3,MFF-DT	c.1982C>G (p.Pro661Arg) n.422+3044G>C c.743C>G (p.Pro248Arg) n.2120C>G
2	g.227276439C>T	CA350846345	COL4A3,MFF-DT	c.1982C>T (p.Pro661Leu) n.422+3044G>A c.743C>T (p.Pro248Leu) n.2120C>T
2	g.227276440A=	CA1332847944	COL4A3,MFF-DT	c.1983A= (p.Pro661=) n.422+3043T= c.744A= (p.Pro248=) n.2121A=
2	g.227276440A>C	CA431501059	COL4A3,MFF-DT	c.1983A>C (p.Pro661=) n.422+3043T>G c.744A>C (p.Pro248=) n.2121A>C	ClinVar dbSNP gnomAD v4
2	g.227276440A>G	CA431501060	COL4A3,MFF-DT	c.1983A>G (p.Pro661=) n.422+3043T>C c.744A>G (p.Pro248=) n.2121A>G	dbSNP gnomAD v4
2	g.227276440A>T	CA431501061	COL4A3,MFF-DT	c.1983A>T (p.Pro661=) n.422+3043T>A c.744A>T (p.Pro248=) n.2121A>T
2	g.227276441G>A	CA350846348	COL4A3,MFF-DT	c.1984G>A (p.Gly662Arg) n.422+3042C>T c.745G>A (p.Gly249Arg) n.2122G>A	ClinVar dbSNP
2	g.227276441G>C	CA350846350	COL4A3,MFF-DT	c.1984G>C (p.Gly662Arg) n.422+3042C>G c.745G>C (p.Gly249Arg) n.2122G>C
2	g.227276441G>T	CA350846351	COL4A3,MFF-DT	c.1984G>T (p.Gly662Trp) n.422+3042C>A c.745G>T (p.Gly249Trp) n.2122G>T
2	g.227276442G>A	CA350846354	COL4A3,MFF-DT	c.1985G>A (p.Gly662Glu) n.422+3041C>T c.746G>A (p.Gly249Glu) n.2123G>A	ClinVar gnomAD v4
2	g.227276442G>C	CA350846356	COL4A3,MFF-DT	c.1985G>C (p.Gly662Ala) n.422+3041C>G c.746G>C (p.Gly249Ala) n.2123G>C
2	g.227276442G>T	CA350846359	COL4A3,MFF-DT	c.1985G>T (p.Gly662Val) n.422+3041C>A c.746G>T (p.Gly249Val) n.2123G>T
2	g.227276443G>A	CA431501065	COL4A3,MFF-DT	c.1986G>A (p.Gly662=) n.422+3040C>T c.747G>A (p.Gly249=) n.2124G>A	gnomAD v4
2	g.227276443G>C	CA431501066	COL4A3,MFF-DT	c.1986G>C (p.Gly662=) n.422+3040C>G c.747G>C (p.Gly249=) n.2124G>C	gnomAD v4
2	g.227276443G>T	CA431501067	COL4A3,MFF-DT	c.1986G>T (p.Gly662=) n.422+3040C>A c.747G>T (p.Gly249=) n.2124G>T
2	g.227276443_227276444delinsGC	CA1332847945	COL4A3,MFF-DT	c.1986_1987delinsGC (p.Gly662=) n.422+3039_422+3040delinsGC c.747_748delinsGC (p.Gly249=) n.2124_2125delinsGC
2	g.227276444C>A	CA2146818	COL4A3,MFF-DT	c.1987C>A (p.Pro663Thr) n.422+3039G>T c.748C>A (p.Pro250Thr) n.2125C>A	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.227276444C=	CA1332847946	COL4A3,MFF-DT	c.1987C= (p.Pro663=) n.422+3039G= c.748C= (p.Pro250=) n.2125C=
2	g.227276444C>G	CA350846365	COL4A3,MFF-DT	c.1987C>G (p.Pro663Ala) n.422+3039G>C c.748C>G (p.Pro250Ala) n.2125C>G	ClinVar dbSNP
2	g.227276444C>T	CA350846362	COL4A3,MFF-DT	c.1987C>T (p.Pro663Ser) n.422+3039G>A c.748C>T (p.Pro250Ser) n.2125C>T	ClinVar dbSNP gnomAD v4
2	g.227276448dup	CA765693480	COL4A3,MFF-DT	c.1991dup (p.Gly665TrpfsTer27) n.422+3039dup c.1991dup (p.Gly665TrpfsTer?) c.752dup (p.Gly252TrpfsTer27) n.2129dup	dbSNP
2	g.227276448del	CA2146817	COL4A3,MFF-DT	c.1991del (p.Pro664LeufsTer?) n.422+3039del c.752del (p.Pro251LeufsTer?) n.2129del	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.227276445C>A	CA350846368	COL4A3,MFF-DT	c.1988C>A (p.Pro663His) n.422+3038G>T c.749C>A (p.Pro250His) n.2126C>A
2	g.227276445C=	CA1332847947	COL4A3,MFF-DT	c.1988C= (p.Pro663=) n.422+3038G= c.749C= (p.Pro250=) n.2126C=
2	g.227276445C>G	CA350846370	COL4A3,MFF-DT	c.1988C>G (p.Pro663Arg) n.422+3038G>C c.749C>G (p.Pro250Arg) n.2126C>G	dbSNP
2	g.227276445C>T	CA350846373	COL4A3,MFF-DT	c.1988C>T (p.Pro663Leu) n.422+3038G>A c.749C>T (p.Pro250Leu) n.2126C>T	dbSNP gnomAD v4
2	g.227276446C>A	CA431501071	COL4A3,MFF-DT	c.1989C>A (p.Pro663=) n.422+3037G>T c.750C>A (p.Pro250=) n.2127C>A
2	g.227276446C>G	CA431501072	COL4A3,MFF-DT	c.1989C>G (p.Pro663=) n.422+3037G>C c.750C>G (p.Pro250=) n.2127C>G
2	g.227276446C>T	CA431501073	COL4A3,MFF-DT	c.1989C>T (p.Pro663=) n.422+3037G>A c.750C>T (p.Pro250=) n.2127C>T	ClinVar gnomAD v4
2	g.227276447C>A	CA350846376	COL4A3,MFF-DT	c.1990C>A (p.Pro664Thr) n.422+3036G>T c.751C>A (p.Pro251Thr) n.2128C>A
2	g.227276447C=	CA1332847948	COL4A3,MFF-DT	c.1990C= (p.Pro664=) n.422+3036G= c.751C= (p.Pro251=) n.2128C=
2	g.227276447C>G	CA350846377	COL4A3,MFF-DT	c.1990C>G (p.Pro664Ala) n.422+3036G>C c.751C>G (p.Pro251Ala) n.2128C>G
2	g.227276447C>T	CA350846378	COL4A3,MFF-DT	c.1990C>T (p.Pro664Ser) n.422+3036G>A c.751C>T (p.Pro251Ser) n.2128C>T	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.227276448C>A	CA350846381	COL4A3,MFF-DT	c.1991C>A (p.Pro664His) n.422+3035G>T c.752C>A (p.Pro251His) n.2129C>A
2	g.227276448C=	CA1332847949	COL4A3,MFF-DT	c.1991C= (p.Pro664=) n.422+3035G= c.752C= (p.Pro251=) n.2129C=
2	g.227276448C>G	CA350846383	COL4A3,MFF-DT	c.1991C>G (p.Pro664Arg) n.422+3035G>C c.752C>G (p.Pro251Arg) n.2129C>G
2	g.227276448C>T	CA66596017	COL4A3,MFF-DT	c.1991C>T (p.Pro664Leu) n.422+3035G>A c.752C>T (p.Pro251Leu) n.2129C>T	dbSNP gnomAD v4
2	g.227276448_227276449delinsCT	CA1332847950	COL4A3,MFF-DT	c.1991_1992delinsCT (p.Pro664=) n.422+3034_422+3035delinsAG c.752_753delinsCT (p.Pro251=) n.2129_2130delinsCT
2	g.227276449del	CA2146819	COL4A3,MFF-DT	c.1992del (p.Gly665AlafsTer?) n.422+3034del c.753del (p.Gly252AlafsTer?) n.2130del	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.227276449T>A	CA431501074	COL4A3,MFF-DT	c.1992T>A (p.Pro664=) n.422+3034A>T c.753T>A (p.Pro251=) n.2130T>A
2	g.227276449T>C	CA431501076	COL4A3,MFF-DT	c.1992T>C (p.Pro664=) n.422+3034A>G c.753T>C (p.Pro251=) n.2130T>C
2	g.227276449T>G	CA431501078	COL4A3,MFF-DT	c.1992T>G (p.Pro664=) n.422+3034A>C c.753T>G (p.Pro251=) n.2130T>G
2	g.227276449T=	CA1332847951	COL4A3,MFF-DT	c.1992T= (p.Pro664=) n.422+3034A= c.753T= (p.Pro251=) n.2130T=
2	g.227276450G>A	CA350846389	COL4A3,MFF-DT	c.1993G>A (p.Gly665Ser) n.422+3033C>T c.754G>A (p.Gly252Ser) n.2131G>A
2	g.227276450G>C	CA350846391	COL4A3,MFF-DT	c.1993G>C (p.Gly665Arg) n.422+3033C>G c.754G>C (p.Gly252Arg) n.2131G>C
2	g.227276450G>T	CA350846393	COL4A3,MFF-DT	c.1993G>T (p.Gly665Cys) n.422+3033C>A c.754G>T (p.Gly252Cys) n.2131G>T
2	g.227276451dup	CA1332847952	COL4A3,MFF-DT	c.1994dup (p.His666ProfsTer26) n.422+3033dup c.1994dup (p.His666ProfsTer?) c.755dup (p.His253ProfsTer26) n.2132dup	dbSNP
2	g.227276451G>A	CA350846400	COL4A3,MFF-DT	c.1994G>A (p.Gly665Asp) n.422+3032C>T c.755G>A (p.Gly252Asp) n.2132G>A
2	g.227276451G>C	CA350846398	COL4A3,MFF-DT	c.1994G>C (p.Gly665Ala) n.422+3032C>G c.755G>C (p.Gly252Ala) n.2132G>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.227276451G=	CA1332847953	COL4A3,MFF-DT	c.1994G= (p.Gly665=) n.422+3032C= c.755G= (p.Gly252=) n.2132G=
2	g.227276451G>T	CA350846396	COL4A3,MFF-DT	c.1994G>T (p.Gly665Val) n.422+3032C>A c.755G>T (p.Gly252Val) n.2132G>T
2	g.227276452C>A	CA431501085	COL4A3,MFF-DT	c.1995C>A (p.Gly665=) n.422+3031G>T c.756C>A (p.Gly252=) n.2133C>A
2	g.227276452C>G	CA431501082	COL4A3,MFF-DT	c.1995C>G (p.Gly665=) n.422+3031G>C c.756C>G (p.Gly252=) n.2133C>G
2	g.227276452C>T	CA431501084	COL4A3,MFF-DT	c.1995C>T (p.Gly665=) n.422+3031G>A c.756C>T (p.Gly252=) n.2133C>T	ClinVar
2	g.227276453C>A	CA350846402	COL4A3,MFF-DT	c.1996C>A (p.His666Asn) n.422+3030G>T c.757C>A (p.His253Asn) n.2134C>A
2	g.227276453C>G	CA350846404	COL4A3,MFF-DT	c.1996C>G (p.His666Asp) n.422+3030G>C c.757C>G (p.His253Asp) n.2134C>G
2	g.227276453C>T	CA350846407	COL4A3,MFF-DT	c.1996C>T (p.His666Tyr) n.422+3030G>A c.757C>T (p.His253Tyr) n.2134C>T
2	g.227276454A=	CA1332847954	COL4A3,MFF-DT	c.1997A= (p.His666=) n.422+3029T= c.758A= (p.His253=) n.2135A=
2	g.227276454A>C	CA350846409	COL4A3,MFF-DT	c.1997A>C (p.His666Pro) n.422+3029T>G c.758A>C (p.His253Pro) n.2135A>C
2	g.227276454A>G	CA350846412	COL4A3,MFF-DT	c.1997A>G (p.His666Arg) n.422+3029T>C c.758A>G (p.His253Arg) n.2135A>G
2	g.227276454A>T	CA2146820	COL4A3,MFF-DT	c.1997A>T (p.His666Leu) n.422+3029T>A c.758A>T (p.His253Leu) n.2135A>T	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.227276455T>A	CA350846416	COL4A3,MFF-DT	c.1998T>A (p.His666Gln) n.422+3028A>T c.759T>A (p.His253Gln) n.2136T>A	gnomAD v4 COSMIC COSMIC
2	g.227276455T>C	CA431501089	COL4A3,MFF-DT	c.1998T>C (p.His666=) n.422+3028A>G c.759T>C (p.His253=) n.2136T>C	dbSNP
2	g.227276455T>G	CA350846417	COL4A3,MFF-DT	c.1998T>G (p.His666Gln) n.422+3028A>C c.759T>G (p.His253Gln) n.2136T>G
2	g.227276455T=	CA1332847955	COL4A3,MFF-DT	c.1998T= (p.His666=) n.422+3028A= c.759T= (p.His253=) n.2136T=
2	g.227276456C>A	CA350846420	COL4A3,MFF-DT	c.1999C>A (p.Pro667Thr) n.422+3027G>T c.760C>A (p.Pro254Thr) n.2137C>A
2	g.227276456C>G	CA350846422	COL4A3,MFF-DT	c.1999C>G (p.Pro667Ala) n.422+3027G>C c.760C>G (p.Pro254Ala) n.2137C>G
2	g.227276456C>T	CA350846424	COL4A3,MFF-DT	c.1999C>T (p.Pro667Ser) n.422+3027G>A c.760C>T (p.Pro254Ser) n.2137C>T	gnomAD v4 COSMIC COSMIC
2	g.227276457C>A	CA350846426	COL4A3,MFF-DT	c.2000C>A (p.Pro667His) n.422+3026G>T c.761C>A (p.Pro254His) n.2138C>A
2	g.227276457C>G	CA350846428	COL4A3,MFF-DT	c.2000C>G (p.Pro667Arg) n.422+3026G>C c.761C>G (p.Pro254Arg) n.2138C>G
2	g.227276457C>T	CA350846430	COL4A3,MFF-DT	c.2000C>T (p.Pro667Leu) n.422+3026G>A c.761C>T (p.Pro254Leu) n.2138C>T
2	g.227276458T>A	CA431501091	COL4A3,MFF-DT	c.2001T>A (p.Pro667=) n.422+3025A>T c.762T>A (p.Pro254=) n.2139T>A
2	g.227276458T>C	CA431501092	COL4A3,MFF-DT	c.2001T>C (p.Pro667=) n.422+3025A>G c.762T>C (p.Pro254=) n.2139T>C
2	g.227276458T>G	CA431501093	COL4A3,MFF-DT	c.2001T>G (p.Pro667=) n.422+3025A>C c.762T>G (p.Pro254=) n.2139T>G	dbSNP gnomAD v3 gnomAD v4
2	g.227276458T=	CA1332847956	COL4A3,MFF-DT	c.2001T= (p.Pro667=) n.422+3025A= c.762T= (p.Pro254=) n.2139T=
2	g.227276458_227276459delinsTG	CA1332847957	COL4A3,MFF-DT	c.2001_2002delinsTG (p.Pro667=) n.422+3024_422+3025delinsCA c.762_763delinsTG (p.Pro254=) n.2139_2140delinsTG
2	g.227276459G>A	CA350846436	COL4A3,MFF-DT	c.2002G>A (p.Gly668Ser) n.422+3024C>T c.763G>A (p.Gly255Ser) n.2140G>A
2	g.227276459G>C	CA350846438	COL4A3,MFF-DT	c.2002G>C (p.Gly668Arg) n.422+3024C>G c.763G>C (p.Gly255Arg) n.2140G>C	ClinVar dbSNP
2	g.227276459G=	CA1332847958	COL4A3,MFF-DT	c.2002G= (p.Gly668=) n.422+3024C= c.763G= (p.Gly255=) n.2140G=
2	g.227276459G>T	CA350846440	COL4A3,MFF-DT	c.2002G>T (p.Gly668Cys) n.422+3024C>A c.763G>T (p.Gly255Cys) n.2140G>T
2	g.227276460del	CA2146821	COL4A3,MFF-DT	c.2003del (p.Gly668AlafsTer?) n.422+3024del c.764del (p.Gly255AlafsTer?) n.2141del	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.227276460G>A	CA350846442	COL4A3,MFF-DT	c.2003G>A (p.Gly668Asp) n.422+3023C>T c.764G>A (p.Gly255Asp) n.2141G>A	gnomAD v4
2	g.227276460G>C	CA350846444	COL4A3,MFF-DT	c.2003G>C (p.Gly668Ala) n.422+3023C>G c.764G>C (p.Gly255Ala) n.2141G>C
2	g.227276460G>T	CA350846447	COL4A3,MFF-DT	c.2003G>T (p.Gly668Val) n.422+3023C>A c.764G>T (p.Gly255Val) n.2141G>T
2	g.227276461C>A	CA2146822	COL4A3,MFF-DT	c.2004C>A (p.Gly668=) n.422+3022G>T c.765C>A (p.Gly255=) n.2142C>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.227276461C=	CA1332847959	COL4A3,MFF-DT	c.2004C= (p.Gly668=) n.422+3022G= c.765C= (p.Gly255=) n.2142C=
2	g.227276461C>G	CA431501096	COL4A3,MFF-DT	c.2004C>G (p.Gly668=) n.422+3022G>C c.765C>G (p.Gly255=) n.2142C>G
2	g.227276461C>T	CA431501097	COL4A3,MFF-DT	c.2004C>T (p.Gly668=) n.422+3022G>A c.765C>T (p.Gly255=) n.2142C>T	gnomAD v4
2	g.227276462C>A	CA350846451	COL4A3,MFF-DT	c.2005C>A (p.Pro669Thr) n.422+3021G>T c.766C>A (p.Pro256Thr) n.2143C>A
2	g.227276462C=	CA1332847960	COL4A3,MFF-DT	c.2005C= (p.Pro669=) n.422+3021G= c.766C= (p.Pro256=) n.2143C=
2	g.227276462C>G	CA66596034	COL4A3,MFF-DT	c.2005C>G (p.Pro669Ala) n.422+3021G>C c.766C>G (p.Pro256Ala) n.2143C>G	dbSNP gnomAD v4
2	g.227276462C>T	CA2146823	COL4A3,MFF-DT	c.2005C>T (p.Pro669Ser) n.422+3021G>A c.766C>T (p.Pro256Ser) n.2143C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.227276463C>A	CA350846455	COL4A3,MFF-DT	c.2006C>A (p.Pro669His) n.422+3020G>T c.767C>A (p.Pro256His) n.2144C>A
2	g.227276463C=	CA1332847961	COL4A3,MFF-DT	c.2006C= (p.Pro669=) n.422+3020G= c.767C= (p.Pro256=) n.2144C=
2	g.227276463C>G	CA350846456	COL4A3,MFF-DT	c.2006C>G (p.Pro669Arg) n.422+3020G>C c.767C>G (p.Pro256Arg) n.2144C>G	dbSNP gnomAD v2 gnomAD v4
2	g.227276463C>T	CA2146824	COL4A3,MFF-DT	c.2006C>T (p.Pro669Leu) n.422+3020G>A c.767C>T (p.Pro256Leu) n.2144C>T	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.227276464C>A	CA431501098	COL4A3,MFF-DT	c.2007C>A (p.Pro669=) n.422+3019G>T c.768C>A (p.Pro256=) n.2145C>A
2	g.227276464C=	CA1332847962	COL4A3,MFF-DT	c.2007C= (p.Pro669=) n.422+3019G= c.768C= (p.Pro256=) n.2145C=
2	g.227276464C>G	CA2146825	COL4A3,MFF-DT	c.2007C>G (p.Pro669=) n.422+3019G>C c.768C>G (p.Pro256=) n.2145C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.227276464C>T	CA431501099	COL4A3,MFF-DT	c.2007C>T (p.Pro669=) n.422+3019G>A c.768C>T (p.Pro256=) n.2145C>T	ClinVar dbSNP
2	g.227276465C>A	CA350846467	COL4A3,MFF-DT	c.2008C>A (p.Gln670Lys) n.422+3018G>T c.769C>A (p.Gln257Lys) n.2146C>A	gnomAD v4
2	g.227276465C>G	CA350846462	COL4A3,MFF-DT	c.2008C>G (p.Gln670Glu) n.422+3018G>C c.769C>G (p.Gln257Glu) n.2146C>G
2	g.227276465C>T	CA350846464	COL4A3,MFF-DT	c.2008C>T (p.Gln670Ter) n.422+3018G>A c.769C>T (p.Gln257Ter) n.2146C>T
2	g.227276466A>C	CA350846471	COL4A3,MFF-DT	c.2009A>C (p.Gln670Pro) n.422+3017T>G c.770A>C (p.Gln257Pro) n.2147A>C
2	g.227276466A>G	CA350846472	COL4A3,MFF-DT	c.2009A>G (p.Gln670Arg) n.422+3017T>C c.770A>G (p.Gln257Arg) n.2147A>G	gnomAD v4
2	g.227276466A>T	CA350846473	COL4A3,MFF-DT	c.2009A>T (p.Gln670Leu) n.422+3017T>A c.770A>T (p.Gln257Leu) n.2147A>T
2	g.227276467A>C	CA350846476	COL4A3,MFF-DT	c.2010A>C (p.Gln670His) n.422+3016T>G c.771A>C (p.Gln257His) n.2148A>C
2	g.227276467A>G	CA431501101	COL4A3,MFF-DT	c.2010A>G (p.Gln670=) n.422+3016T>C c.771A>G (p.Gln257=) n.2148A>G
2	g.227276467A>T	CA350846477	COL4A3,MFF-DT	c.2010A>T (p.Gln670His) n.422+3016T>A c.771A>T (p.Gln257His) n.2148A>T
2	g.227276468G>A	CA2146826	COL4A3,MFF-DT	c.2011G>A (p.Gly671Ser) n.422+3015C>T c.772G>A (p.Gly258Ser) n.2149G>A	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.227276468G>C	CA350846481	COL4A3,MFF-DT	c.2011G>C (p.Gly671Arg) n.422+3015C>G c.772G>C (p.Gly258Arg) n.2149G>C
2	g.227276468G=	CA1332847963	COL4A3,MFF-DT	c.2011G= (p.Gly671=) n.422+3015C= c.772G= (p.Gly258=) n.2149G=
2	g.227276468G>T	CA350846483	COL4A3,MFF-DT	c.2011G>T (p.Gly671Cys) n.422+3015C>A c.772G>T (p.Gly258Cys) n.2149G>T
2	g.227276469G>A	CA350846486	COL4A3,MFF-DT	c.2012G>A (p.Gly671Asp) n.422+3014C>T c.773G>A (p.Gly258Asp) n.2150G>A	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
2	g.227276469G>C	CA350846487	COL4A3,MFF-DT	c.2012G>C (p.Gly671Ala) n.422+3014C>G c.773G>C (p.Gly258Ala) n.2150G>C
2	g.227276469G=	CA1332847964	COL4A3,MFF-DT	c.2012G= (p.Gly671=) n.422+3014C= c.773G= (p.Gly258=) n.2150G=
2	g.227276469G>T	CA350846489	COL4A3,MFF-DT	c.2012G>T (p.Gly671Val) n.422+3014C>A c.773G>T (p.Gly258Val) n.2150G>T
2	g.227276470T>A	CA431501102	COL4A3,MFF-DT	c.2013T>A (p.Gly671=) n.422+3013A>T c.774T>A (p.Gly258=) n.2151T>A
2	g.227276470T>C	CA431501103	COL4A3,MFF-DT	c.2013T>C (p.Gly671=) n.422+3013A>G c.774T>C (p.Gly258=) n.2151T>C	ClinVar dbSNP
2	g.227276470T>G	CA431501104	COL4A3,MFF-DT	c.2013T>G (p.Gly671=) n.422+3013A>C c.774T>G (p.Gly258=) n.2151T>G
2	g.227276470T=	CA1332847965	COL4A3,MFF-DT	c.2013T= (p.Gly671=) n.422+3013A= c.774T= (p.Gly258=) n.2151T=
2	g.227276471C>A	CA350846491	COL4A3,MFF-DT	c.2014C>A (p.Pro672Thr) n.422+3012G>T c.775C>A (p.Pro259Thr) n.2152C>A	gnomAD v4
2	g.227276471C>G	CA350846496	COL4A3,MFF-DT	c.2014C>G (p.Pro672Ala) n.422+3012G>C c.775C>G (p.Pro259Ala) n.2152C>G
2	g.227276471C>T	CA350846494	COL4A3,MFF-DT	c.2014C>T (p.Pro672Ser) n.422+3012G>A c.775C>T (p.Pro259Ser) n.2152C>T
2	g.227276472C>A	CA350846497	COL4A3,MFF-DT	c.2015C>A (p.Pro672Gln) n.422+3011G>T c.776C>A (p.Pro259Gln) n.2153C>A
2	g.227276472C>G	CA350846500	COL4A3,MFF-DT	c.2015C>G (p.Pro672Arg) n.422+3011G>C c.776C>G (p.Pro259Arg) n.2153C>G
2	g.227276472C>T	CA350846499	COL4A3,MFF-DT	c.2015C>T (p.Pro672Leu) n.422+3011G>A c.776C>T (p.Pro259Leu) n.2153C>T
2	g.227276473A=	CA1332847966	COL4A3,MFF-DT	c.2016A= (p.Pro672=) n.422+3010T= c.777A= (p.Pro259=) n.2154A=
2	g.227276473A>C	CA431501108	COL4A3,MFF-DT	c.2016A>C (p.Pro672=) n.422+3010T>G c.777A>C (p.Pro259=) n.2154A>C	dbSNP
2	g.227276473A>G	CA431501107	COL4A3,MFF-DT	c.2016A>G (p.Pro672=) n.422+3010T>C c.777A>G (p.Pro259=) n.2154A>G
2	g.227276473A>T	CA431501106	COL4A3,MFF-DT	c.2016A>T (p.Pro672=) n.422+3010T>A c.777A>T (p.Pro259=) n.2154A>T
2	g.227276474C>A	CA350846503	COL4A3,MFF-DT	c.2017C>A (p.Pro673Thr) n.422+3009G>T c.778C>A (p.Pro260Thr) n.2155C>A
2	g.227276474C=	CA1332847967	COL4A3,MFF-DT	c.2017C= (p.Pro673=) n.422+3009G= c.778C= (p.Pro260=) n.2155C=
2	g.227276474C>G	CA350846506	COL4A3,MFF-DT	c.2017C>G (p.Pro673Ala) n.422+3009G>C c.778C>G (p.Pro260Ala) n.2155C>G	dbSNP gnomAD v3 gnomAD v4
2	g.227276474C>T	CA350846504	COL4A3,MFF-DT	c.2017C>T (p.Pro673Ser) n.422+3009G>A c.778C>T (p.Pro260Ser) n.2155C>T
2	g.227276475C>A	CA350846509	COL4A3,MFF-DT	c.2018C>A (p.Pro673His) n.422+3008G>T c.779C>A (p.Pro260His) n.2156C>A
2	g.227276475C>G	CA350846512	COL4A3,MFF-DT	c.2018C>G (p.Pro673Arg) n.422+3008G>C c.779C>G (p.Pro260Arg) n.2156C>G
2	g.227276475C>T	CA350846514	COL4A3,MFF-DT	c.2018C>T (p.Pro673Leu) n.422+3008G>A c.779C>T (p.Pro260Leu) n.2156C>T
2	g.227276476T>A	CA431501109	COL4A3,MFF-DT	c.2019T>A (p.Pro673=) n.422+3007A>T c.780T>A (p.Pro260=) n.2157T>A
2	g.227276476T>C	CA431501110	COL4A3,MFF-DT	c.2019T>C (p.Pro673=) n.422+3007A>G c.780T>C (p.Pro260=) n.2157T>C	gnomAD v4
2	g.227276476T>G	CA431501111	COL4A3,MFF-DT	c.2019T>G (p.Pro673=) n.422+3007A>C c.780T>G (p.Pro260=) n.2157T>G
2	g.227276477G>A	CA350846517	COL4A3,MFF-DT	c.2020G>A (p.Gly674Ser) n.422+3006C>T c.2020G>A (p.Gly674Arg) c.781G>A (p.Gly261Ser) n.2158G>A
2	g.227276477G>C	CA350846518	COL4A3,MFF-DT	c.2020G>C (p.Gly674Arg) n.422+3006C>G c.781G>C (p.Gly261Arg) n.2158G>C
2	g.227276477G>T	CA350846521	COL4A3,MFF-DT	c.2020G>T (p.Gly674Cys) n.422+3006C>A c.2020G>T (p.Gly674Ter) c.781G>T (p.Gly261Cys) n.2158G>T
2	g.227276478dup	CA2663420884	COL4A3,MFF-DT	c.2020+1dup n.422+3006dup c.781+1dup n.2158+1dup	gnomAD v4
2	g.227276478del	CA2663420885	COL4A3,MFF-DT	c.2020+1del n.422+3006del c.781+1del n.2158+1del	gnomAD v4
2	g.227276478G>A	CA350846523	COL4A3,MFF-DT	c.2020+1G>A (n.2020+1G>A) n.422+3005C>T c.781+1G>A (n.781+1G>A) n.2158+1G>A	gnomAD v4
2	g.227276478G>C	CA350846525	COL4A3,MFF-DT	c.2020+1G>C (n.2020+1G>C) n.422+3005C>G c.781+1G>C (n.781+1G>C) n.2158+1G>C
2	g.227276478G>T	CA350846526	COL4A3,MFF-DT	c.2020+1G>T (n.2020+1G>T) n.422+3005C>A c.781+1G>T (n.781+1G>T) n.2158+1G>T	ClinVar gnomAD v4
2	g.227276479T>A	CA350846528	COL4A3,MFF-DT	c.2020+2T>A (n.2020+2T>A) n.422+3004A>T c.781+2T>A (n.781+2T>A) n.2158+2T>A
2	g.227276479T>C	CA350846530	COL4A3,MFF-DT	c.2020+2T>C (n.2020+2T>C) n.422+3004A>G c.781+2T>C (n.781+2T>C) n.2158+2T>C
2	g.227276479T>G	CA350846531	COL4A3,MFF-DT	c.2020+2T>G (n.2020+2T>G) n.422+3004A>C c.781+2T>G (n.781+2T>G) n.2158+2T>G
2	g.227276480A=	CA1332847968	COL4A3,MFF-DT	c.2020+3A= (n.2020+3A=) n.422+3003T= c.781+3A= (n.781+3A=) n.2158+3A=
2	g.227276480A>G	CA2146827	COL4A3,MFF-DT	c.2020+3A>G (n.2020+3A>G) n.422+3003T>C c.781+3A>G (n.781+3A>G) n.2158+3A>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.227276481A>C	CA2754514348	COL4A3,MFF-DT	c.2020+4A>C (n.2020+4A>C) n.422+3002T>G c.781+4A>C (n.781+4A>C) n.2158+4A>C
2	g.227276485T>C	CA66596073	COL4A3,MFF-DT	c.2020+8T>C (n.2020+8T>C) n.422+2998A>G c.781+8T>C (n.781+8T>C) n.2158+8T>C	dbSNP
2	g.227276485T=	CA1332847969	COL4A3,MFF-DT	c.2020+8T= (n.2020+8T=) n.422+2998A= c.781+8T= (n.781+8T=) n.2158+8T=
2	g.227276486C>A	CA2663420902	COL4A3,MFF-DT	c.2020+9C>A (n.2020+9C>A) n.422+2997G>T c.781+9C>A (n.781+9C>A) n.2158+9C>A	gnomAD v4
2	g.227276486_227276495del	CA2577265012	COL4A3,MFF-DT	c.2020+9_2020+18del (n.2020+9_2020+18del) n.422+2988_422+2997del c.781+9_781+18del (n.781+9_781+18del) n.2158+9_2158+18del
2	g.227276487C>A	CA2663420904	COL4A3,MFF-DT	c.2020+10C>A (n.2020+10C>A) n.422+2996G>T c.781+10C>A (n.781+10C>A) n.2158+10C>A	gnomAD v4
2	g.227276488T>C	CA2663420906	COL4A3,MFF-DT	c.2020+11T>C (n.2020+11T>C) n.422+2995A>G c.781+11T>C (n.781+11T>C) n.2158+11T>C	gnomAD v4
2	g.227276489C>A	CA2577265013	COL4A3,MFF-DT	c.2020+12C>A (n.2020+12C>A) n.422+2994G>T c.781+12C>A (n.781+12C>A) n.2158+12C>A	gnomAD v4
2	g.227276489C>G	CA2663420907	COL4A3,MFF-DT	c.2020+12C>G (n.2020+12C>G) n.422+2994G>C c.781+12C>G (n.781+12C>G) n.2158+12C>G	ClinVar gnomAD v4

Number of alleles fetched