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.94062580_94062590dup | CA2646651743 | ABCA4 | c.1930_1937+3dup c.-65+590_-65+600dup (n.-65+590_-65+600dup) | gnomAD v4 |
1 | g.94062580T>A | CA341279130 | ABCA4 | c.1934A>T (p.Asp645Val) c.-65+594A>T (n.-65+594A>T) | |
1 | g.94062580T>C | CA341279128 | ABCA4 | c.1934A>G (p.Asp645Gly) c.-65+594A>G (n.-65+594A>G) | ClinVar dbSNP |
1 | g.94062580T>G | CA341279126 | ABCA4 | c.1934A>C (p.Asp645Ala) c.-65+594A>C (n.-65+594A>C) | |
1 | g.94062581C>A | CA958397 | ABCA4 | c.1933G>T (p.Asp645Tyr) c.-65+593G>T (n.-65+593G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94062581C= | CA1140726044 | ABCA4 | c.1933G= (p.Asp645=) c.-65+593G= (n.-65+593G=) | |
1 | g.94062581C>G | CA341279133 | ABCA4 | c.1933G>C (p.Asp645His) c.-65+593G>C (n.-65+593G>C) | |
1 | g.94062581C>T | CA226960 | ABCA4 | c.1933G>A (p.Asp645Asn) c.-65+593G>A (n.-65+593G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94062582_94062585del | CA645521474 | ABCA4 | c.1930_1933del (p.Asp644IlefsTer4) c.-65+590_-65+593del (n.-65+590_-65+593del) | COSMIC COSMIC |
1 | g.94062582del | CA2696611702 | ABCA4 | c.1932del (p.Asp644GlufsTer5) c.-65+592del (n.-65+592del) | dbSNP |
1 | g.94062582G>A | CA958398 | ABCA4 | c.1932C>T (p.Asp644=) c.-65+592C>T (n.-65+592C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94062582G>C | CA341279137 | ABCA4 | c.1932C>G (p.Asp644Glu) c.-65+592C>G (n.-65+592C>G) | |
1 | g.94062582G= | CA1141565955 | ABCA4 | c.1932C= (p.Asp644=) c.-65+592C= (n.-65+592C=) | |
1 | g.94062582G>T | CA341279139 | ABCA4 | c.1932C>A (p.Asp644Glu) c.-65+592C>A (n.-65+592C>A) | ClinVar |
1 | g.94062583T>A | CA341279142 | ABCA4 | c.1931A>T (p.Asp644Val) c.-65+591A>T (n.-65+591A>T) | |
1 | g.94062583T>C | CA341279145 | ABCA4 | c.1931A>G (p.Asp644Gly) c.-65+591A>G (n.-65+591A>G) | |
1 | g.94062583T>G | CA341279144 | ABCA4 | c.1931A>C (p.Asp644Ala) c.-65+591A>C (n.-65+591A>C) | |
1 | g.94062584C>A | CA341279146 | ABCA4 | c.1930G>T (p.Asp644Tyr) c.-65+590G>T (n.-65+590G>T) | |
1 | g.94062584C>G | CA341279148 | ABCA4 | c.1930G>C (p.Asp644His) c.-65+590G>C (n.-65+590G>C) | |
1 | g.94062584C>T | CA341279150 | ABCA4 | c.1930G>A (p.Asp644Asn) c.-65+590G>A (n.-65+590G>A) | gnomAD v4 |
1 | g.94062585C>A | CA418821785 | ABCA4 | c.1929G>T (p.Val643=) c.-65+589G>T (n.-65+589G>T) | |
1 | g.94062585C>G | CA418821786 | ABCA4 | c.1929G>C (p.Val643=) c.-65+589G>C (n.-65+589G>C) | |
1 | g.94062585C>T | CA418821788 | ABCA4 | c.1929G>A (p.Val643=) c.-65+589G>A (n.-65+589G>A) | gnomAD v4 |
1 | g.94062586A= | CA1140726049 | ABCA4 | c.1928T= (p.Val643=) c.-65+588T= (n.-65+588T=) | |
1 | g.94062586A>C | CA226958 | ABCA4 | c.1928T>G (p.Val643Gly) c.-65+588T>G (n.-65+588T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94062586A>G | CA341279152 | ABCA4 | c.1928T>C (p.Val643Ala) c.-65+588T>C (n.-65+588T>C) | dbSNP |
1 | g.94062586A>T | CA341279154 | ABCA4 | c.1928T>A (p.Val643Glu) c.-65+588T>A (n.-65+588T>A) | |
1 | g.94062587C>A | CA341279156 | ABCA4 | c.1927G>T (p.Val643Leu) c.-65+587G>T (n.-65+587G>T) | |
1 | g.94062587C= | CA1140726051 | ABCA4 | c.1927G= (p.Val643=) c.-65+587G= (n.-65+587G=) | |
1 | g.94062587C>G | CA341279158 | ABCA4 | c.1927G>C (p.Val643Leu) c.-65+587G>C (n.-65+587G>C) | ClinVar dbSNP |
1 | g.94062587C>T | CA201008 | ABCA4 | c.1927G>A (p.Val643Met) c.-65+587G>A (n.-65+587G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94062588G>A | CA418821793 | ABCA4 | c.1926C>T (p.Phe642=) c.-65+586C>T (n.-65+586C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.94062588G>C | CA341279161 | ABCA4 | c.1926C>G (p.Phe642Leu) c.-65+586C>G (n.-65+586C>G) | |
1 | g.94062588G= | CA1181418800 | ABCA4 | c.1926C= (p.Phe642=) c.-65+586C= (n.-65+586C=) | |
1 | g.94062588G>T | CA341279163 | ABCA4 | c.1926C>A (p.Phe642Leu) c.-65+586C>A (n.-65+586C>A) | |
1 | g.94062589A>C | CA341279165 | ABCA4 | c.1925T>G (p.Phe642Cys) c.-65+585T>G (n.-65+585T>G) | |
1 | g.94062589A>G | CA341279169 | ABCA4 | c.1925T>C (p.Phe642Ser) c.-65+585T>C (n.-65+585T>C) | |
1 | g.94062589A>T | CA341279167 | ABCA4 | c.1925T>A (p.Phe642Tyr) c.-65+585T>A (n.-65+585T>A) | |
1 | g.94062590A>C | CA341279172 | ABCA4 | c.1924T>G (p.Phe642Val) c.-65+584T>G (n.-65+584T>G) | |
1 | g.94062590A>G | CA341279174 | ABCA4 | c.1924T>C (p.Phe642Leu) c.-65+584T>C (n.-65+584T>C) | |
1 | g.94062590A>T | CA341279176 | ABCA4 | c.1924T>A (p.Phe642Ile) c.-65+584T>A (n.-65+584T>A) | ClinVar dbSNP gnomAD v4 |
1 | g.94062591G>A | CA418821797 | ABCA4 | c.1923C>T (p.Cys641=) c.-65+583C>T (n.-65+583C>T) | |
1 | g.94062591G>C | CA341279178 | ABCA4 | c.1923C>G (p.Cys641Trp) c.-65+583C>G (n.-65+583C>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.94062591G= | CA1181418801 | ABCA4 | c.1923C= (p.Cys641=) c.-65+583C= (n.-65+583C=) | |
1 | g.94062591G>T | CA341279180 | ABCA4 | c.1923C>A (p.Cys641Ter) c.-65+583C>A (n.-65+583C>A) | |
1 | g.94062592C>A | CA341279185 | ABCA4 | c.1922G>T (p.Cys641Phe) c.-65+582G>T (n.-65+582G>T) | |
1 | g.94062592C= | CA1140726053 | ABCA4 | c.1922G= (p.Cys641=) c.-65+582G= (n.-65+582G=) | |
1 | g.94062592C>G | CA226956 | ABCA4 | c.1922G>C (p.Cys641Ser) c.-65+582G>C (n.-65+582G>C) | ClinVar dbSNP gnomAD v4 |
1 | g.94062592C>T | CA341279182 | ABCA4 | c.1922G>A (p.Cys641Tyr) c.-65+582G>A (n.-65+582G>A) | dbSNP gnomAD v3 gnomAD v4 |