Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.94060699_94062639del | CA2580101943 | ABCA4 | c.1876_1999del c.-65+536_-65+2476del (n.-65+536_-65+2476del) | ClinVar |
1 | g.94060740G>A | CA226965 | ABCA4 | c.1957C>T (p.Arg653Cys) n.77C>T c.-65+2434C>T (n.-65+2434C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94060740G>C | CA341278912 | ABCA4 | c.1957C>G (p.Arg653Gly) n.77C>G c.-65+2434C>G (n.-65+2434C>G) | COSMIC COSMIC |
1 | g.94060740G= | CA1140726028 | ABCA4 | c.1957C= (p.Arg653=) n.77C= c.-65+2434C= (n.-65+2434C=) | |
1 | g.94060740G>T | CA341278910 | ABCA4 | c.1957C>A (p.Arg653Ser) n.77C>A c.-65+2434C>A (n.-65+2434C>A) | |
1 | g.94060741G>A | CA418821678 | ABCA4 | c.1956C>T (p.Asn652=) n.76C>T c.-65+2433C>T (n.-65+2433C>T) | |
1 | g.94060741G>C | CA341278914 | ABCA4 | c.1956C>G (p.Asn652Lys) n.76C>G c.-65+2433C>G (n.-65+2433C>G) | |
1 | g.94060741G>T | CA341278916 | ABCA4 | c.1956C>A (p.Asn652Lys) n.76C>A c.-65+2433C>A (n.-65+2433C>A) | |
1 | g.94060742T>A | CA341278918 | ABCA4 | c.1955A>T (p.Asn652Ile) n.75A>T c.-65+2432A>T (n.-65+2432A>T) | |
1 | g.94060742T>C | CA341278922 | ABCA4 | c.1955A>G (p.Asn652Ser) n.75A>G c.-65+2432A>G (n.-65+2432A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94060742T>G | CA341278920 | ABCA4 | c.1955A>C (p.Asn652Thr) n.75A>C c.-65+2432A>C (n.-65+2432A>C) | |
1 | g.94060742T= | CA1181428085 | ABCA4 | c.1955A= (p.Asn652=) n.75A= c.-65+2432A= (n.-65+2432A=) | |
1 | g.94060743T>A | CA341278923 | ABCA4 | c.1954A>T (p.Asn652Tyr) n.74A>T c.-65+2431A>T (n.-65+2431A>T) | |
1 | g.94060743T>C | CA341278924 | ABCA4 | c.1954A>G (p.Asn652Asp) n.74A>G c.-65+2431A>G (n.-65+2431A>G) | |
1 | g.94060743T>G | CA341278926 | ABCA4 | c.1954A>C (p.Asn652His) n.74A>C c.-65+2431A>C (n.-65+2431A>C) | gnomAD v4 |
1 | g.94060744C>A | CA418821680 | ABCA4 | c.1953G>T (p.Leu651=) n.73G>T c.-65+2430G>T (n.-65+2430G>T) | |
1 | g.94060744C= | CA1181428086 | ABCA4 | c.1953G= (p.Leu651=) n.73G= c.-65+2430G= (n.-65+2430G=) | |
1 | g.94060744C>G | CA418821681 | ABCA4 | c.1953G>C (p.Leu651=) n.73G>C c.-65+2430G>C (n.-65+2430G>C) | |
1 | g.94060744C>T | CA26846634 | ABCA4 | c.1953G>A (p.Leu651=) n.73G>A c.-65+2430G>A (n.-65+2430G>A) | dbSNP |
1 | g.94060745A>C | CA341278928 | ABCA4 | c.1952T>G (p.Leu651Arg) n.72T>G c.-65+2429T>G (n.-65+2429T>G) | |
1 | g.94060745A>G | CA341278930 | ABCA4 | c.1952T>C (p.Leu651Pro) n.72T>C c.-65+2429T>C (n.-65+2429T>C) | gnomAD v4 |
1 | g.94060745A>T | CA341278932 | ABCA4 | c.1952T>A (p.Leu651Gln) n.72T>A c.-65+2429T>A (n.-65+2429T>A) | |
1 | g.94060746G>A | CA418821683 | ABCA4 | c.1951C>T (p.Leu651=) n.71C>T c.-65+2428C>T (n.-65+2428C>T) | |
1 | g.94060746G>C | CA341278934 | ABCA4 | c.1951C>G (p.Leu651Val) n.71C>G c.-65+2428C>G (n.-65+2428C>G) | |
1 | g.94060746G>T | CA341278936 | ABCA4 | c.1951C>A (p.Leu651Met) n.71C>A c.-65+2428C>A (n.-65+2428C>A) | |
1 | g.94060747G>A | CA418821686 | ABCA4 | c.1950C>T (p.Ile650=) n.70C>T c.-65+2427C>T (n.-65+2427C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.94060747G>C | CA341278938 | ABCA4 | c.1950C>G (p.Ile650Met) n.70C>G c.-65+2427C>G (n.-65+2427C>G) | |
1 | g.94060747G= | CA1181428087 | ABCA4 | c.1950C= (p.Ile650=) n.70C= c.-65+2427C= (n.-65+2427C=) | |
1 | g.94060747G>T | CA418821687 | ABCA4 | c.1950C>A (p.Ile650=) n.70C>A c.-65+2427C>A (n.-65+2427C>A) | |
1 | g.94060748A>C | CA341278942 | ABCA4 | c.1949T>G (p.Ile650Ser) n.69T>G c.-65+2426T>G (n.-65+2426T>G) | |
1 | g.94060748A>G | CA341278943 | ABCA4 | c.1949T>C (p.Ile650Thr) n.69T>C c.-65+2426T>C (n.-65+2426T>C) | ClinVar |
1 | g.94060748A>T | CA341278944 | ABCA4 | c.1949T>A (p.Ile650Asn) n.69T>A c.-65+2426T>A (n.-65+2426T>A) | |
1 | g.94060749T>A | CA341278950 | ABCA4 | c.1948A>T (p.Ile650Phe) n.68A>T c.-65+2425A>T (n.-65+2425A>T) | dbSNP gnomAD v4 |
1 | g.94060749T>C | CA341278949 | ABCA4 | c.1948A>G (p.Ile650Val) n.68A>G c.-65+2425A>G (n.-65+2425A>G) | |
1 | g.94060749T>G | CA341278946 | ABCA4 | c.1948A>C (p.Ile650Leu) n.68A>C c.-65+2425A>C (n.-65+2425A>C) | dbSNP |
1 | g.94060749T= | CA1181428088 | ABCA4 | c.1948A= (p.Ile650=) n.68A= c.-65+2425A= (n.-65+2425A=) | |
1 | g.94060750G>A | CA418821692 | ABCA4 | c.1947C>T (p.Ile649=) n.67C>T c.-65+2424C>T (n.-65+2424C>T) | ClinVar |
1 | g.94060750G>C | CA341278952 | ABCA4 | c.1947C>G (p.Ile649Met) n.67C>G c.-65+2424C>G (n.-65+2424C>G) | |
1 | g.94060750G>T | CA418821694 | ABCA4 | c.1947C>A (p.Ile649=) n.67C>A c.-65+2424C>A (n.-65+2424C>A) | |
1 | g.94060751A>C | CA341278954 | ABCA4 | c.1946T>G (p.Ile649Ser) n.66T>G c.-65+2423T>G (n.-65+2423T>G) | |
1 | g.94060751A>G | CA341278955 | ABCA4 | c.1946T>C (p.Ile649Thr) n.66T>C c.-65+2423T>C (n.-65+2423T>C) | |
1 | g.94060751A>T | CA341278957 | ABCA4 | c.1946T>A (p.Ile649Asn) n.66T>A c.-65+2423T>A (n.-65+2423T>A) | |
1 | g.94060752T>A | CA958378 | ABCA4 | c.1945A>T (p.Ile649Phe) n.65A>T c.-65+2422A>T (n.-65+2422A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94060752T>C | CA341278959 | ABCA4 | c.1945A>G (p.Ile649Val) n.65A>G c.-65+2422A>G (n.-65+2422A>G) | dbSNP |
1 | g.94060752T>G | CA341278961 | ABCA4 | c.1945A>C (p.Ile649Leu) n.65A>C c.-65+2422A>C (n.-65+2422A>C) | |
1 | g.94060752T= | CA1143995602 | ABCA4 | c.1945A= (p.Ile649=) n.65A= c.-65+2422A= (n.-65+2422A=) | |
1 | g.94060753C>A | CA958379 | ABCA4 | c.1944G>T (p.Met648Ile) n.64G>T c.-65+2421G>T (n.-65+2421G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94060753C= | CA1181428089 | ABCA4 | c.1944G= (p.Met648=) n.64G= c.-65+2421G= (n.-65+2421G=) | |
1 | g.94060753C>G | CA341278964 | ABCA4 | c.1944G>C (p.Met648Ile) n.64G>C c.-65+2421G>C (n.-65+2421G>C) | |
1 | g.94060753C>T | CA341278966 | ABCA4 | c.1944G>A (p.Met648Ile) n.64G>A c.-65+2421G>A (n.-65+2421G>A) |