Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.94011318_94011323del | CA645372214 | ABCA4 | c.5528_5533del (p.Arg1843_Gly1844del) c.1904_1909del (p.Arg635_Gly636del) | ClinVar dbSNP |
1 | g.94011319_94011323del | CA2586964110 | ABCA4 | c.5526_5530del (p.Arg1843ProfsTer3) c.1902_1906del (p.Arg635ProfsTer3) | |
1 | g.94011322C>A | CA26838254 | ABCA4 | c.5524G>T (p.Gly1842Cys) c.1900G>T (p.Gly634Cys) | dbSNP |
1 | g.94011322C= | CA1143509550 | ABCA4 | c.5524G= (p.Gly1842=) c.1900G= (p.Gly634=) | |
1 | g.94011322C>G | CA957226 | ABCA4 | c.5524G>C (p.Gly1842Arg) c.1900G>C (p.Gly634Arg) | dbSNP ExAC gnomAD v2 |
1 | g.94011322C>T | CA341281084 | ABCA4 | c.5524G>A (p.Gly1842Ser) c.1900G>A (p.Gly634Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.94011323C>A | CA418816906 | ABCA4 | c.5523G>T (p.Leu1841=) c.1899G>T (p.Leu633=) | |
1 | g.94011323C= | CA1143944239 | ABCA4 | c.5523G= (p.Leu1841=) c.1899G= (p.Leu633=) | |
1 | g.94011323C>G | CA418816907 | ABCA4 | c.5523G>C (p.Leu1841=) c.1899G>C (p.Leu633=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94011323C>T | CA26838258 | ABCA4 | c.5523G>A (p.Leu1841=) c.1899G>A (p.Leu633=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94011324A>C | CA341281085 | ABCA4 | c.5522T>G (p.Leu1841Arg) c.1898T>G (p.Leu633Arg) | |
1 | g.94011324A>G | CA341281086 | ABCA4 | c.5522T>C (p.Leu1841Pro) c.1898T>C (p.Leu633Pro) | gnomAD v4 |
1 | g.94011324A>T | CA341281087 | ABCA4 | c.5522T>A (p.Leu1841Gln) c.1898T>A (p.Leu633Gln) | ClinVar |
1 | g.94011324_94011325delinsCA | CA2739272661 | ABCA4 | c.5521_5522delinsTG (p.Leu1841Trp) c.1897_1898delinsTG (p.Leu633Trp) | ClinVar |
1 | g.94011325G>A | CA418816909 | ABCA4 | c.5521C>T (p.Leu1841=) c.1897C>T (p.Leu633=) | |
1 | g.94011325G>C | CA341281088 | ABCA4 | c.5521C>G (p.Leu1841Val) c.1897C>G (p.Leu633Val) | gnomAD v4 |
1 | g.94011325G>T | CA341281089 | ABCA4 | c.5521C>A (p.Leu1841Met) c.1897C>A (p.Leu633Met) | |
1 | g.94011326G>A | CA418816910 | ABCA4 | c.5520C>T (p.Cys1840=) c.1896C>T (p.Cys632=) | |
1 | g.94011326G>C | CA341281090 | ABCA4 | c.5520C>G (p.Cys1840Trp) c.1896C>G (p.Cys632Trp) | |
1 | g.94011326G>T | CA341281091 | ABCA4 | c.5520C>A (p.Cys1840Ter) c.1896C>A (p.Cys632Ter) | |
1 | g.94011327C>A | CA26838261 | ABCA4 | c.5519G>T (p.Cys1840Phe) c.1895G>T (p.Cys632Phe) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.94011327C= | CA1181408015 | ABCA4 | c.5519G= (p.Cys1840=) c.1895G= (p.Cys632=) | |
1 | g.94011327C>G | CA341281093 | ABCA4 | c.5519G>C (p.Cys1840Ser) c.1895G>C (p.Cys632Ser) | ClinVar dbSNP gnomAD v4 |
1 | g.94011327C>T | CA341281092 | ABCA4 | c.5519G>A (p.Cys1840Tyr) c.1895G>A (p.Cys632Tyr) | ClinVar dbSNP |
1 | g.94011328A>C | CA341281094 | ABCA4 | c.5518T>G (p.Cys1840Gly) c.1894T>G (p.Cys632Gly) | |
1 | g.94011328A>G | CA341281095 | ABCA4 | c.5518T>C (p.Cys1840Arg) c.1894T>C (p.Cys632Arg) | |
1 | g.94011328A>T | CA341281096 | ABCA4 | c.5518T>A (p.Cys1840Ser) c.1894T>A (p.Cys632Ser) | |
1 | g.94011329G>A | CA418816915 | ABCA4 | c.5517C>T (p.Phe1839=) c.1893C>T (p.Phe631=) | |
1 | g.94011329G>C | CA341281097 | ABCA4 | c.5517C>G (p.Phe1839Leu) c.1893C>G (p.Phe631Leu) | |
1 | g.94011329G>T | CA341281098 | ABCA4 | c.5517C>A (p.Phe1839Leu) c.1893C>A (p.Phe631Leu) | |
1 | g.94011330A= | CA1181408021 | ABCA4 | c.5516T= (p.Phe1839=) c.1892T= (p.Phe631=) | |
1 | g.94011330A>C | CA341281099 | ABCA4 | c.5516T>G (p.Phe1839Cys) c.1892T>G (p.Phe631Cys) | |
1 | g.94011330A>G | CA341281100 | ABCA4 | c.5516T>C (p.Phe1839Ser) c.1892T>C (p.Phe631Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.94011330A>T | CA341281101 | ABCA4 | c.5516T>A (p.Phe1839Tyr) c.1892T>A (p.Phe631Tyr) | |
1 | g.94011331A>C | CA341281102 | ABCA4 | c.5515T>G (p.Phe1839Val) c.1891T>G (p.Phe631Val) | |
1 | g.94011331A>G | CA341281103 | ABCA4 | c.5515T>C (p.Phe1839Leu) c.1891T>C (p.Phe631Leu) | |
1 | g.94011331A>T | CA341281104 | ABCA4 | c.5515T>A (p.Phe1839Ile) c.1891T>A (p.Phe631Ile) | |
1 | g.94011332G>A | CA957227 | ABCA4 | c.5514C>T (p.His1838=) c.1890C>T (p.His630=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94011332G>C | CA341281105 | ABCA4 | c.5514C>G (p.His1838Gln) c.1890C>G (p.His630Gln) | |
1 | g.94011332G= | CA1181408024 | ABCA4 | c.5514C= (p.His1838=) c.1890C= (p.His630=) | |
1 | g.94011332G>T | CA341281106 | ABCA4 | c.5514C>A (p.His1838Gln) c.1890C>A (p.His630Gln) | |
1 | g.94011333T>A | CA341281107 | ABCA4 | c.5513A>T (p.His1838Leu) c.1889A>T (p.His630Leu) | |
1 | g.94011333T>C | CA10602417 | ABCA4 | c.5513A>G (p.His1838Arg) c.1889A>G (p.His630Arg) | ClinVar dbSNP |
1 | g.94011333T>G | CA341281108 | ABCA4 | c.5513A>C (p.His1838Pro) c.1889A>C (p.His630Pro) | gnomAD v4 |
1 | g.94011333T= | CA1181408028 | ABCA4 | c.5513A= (p.His1838=) c.1889A= (p.His630=) | |
1 | g.94011334G>A | CA227315 | ABCA4 | c.5512C>T (p.His1838Tyr) c.1888C>T (p.His630Tyr) | ClinVar dbSNP gnomAD v4 |
1 | g.94011334G>C | CA227313 | ABCA4 | c.5512C>G (p.His1838Asp) c.1888C>G (p.His630Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.94011334G= | CA1140762690 | ABCA4 | c.5512C= (p.His1838=) c.1888C= (p.His630=) | |
1 | g.94011334G>T | CA10602418 | ABCA4 | c.5512C>A (p.His1838Asn) c.1888C>A (p.His630Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.94011334_94011338delinsGGGGG | CA1140521757 | ABCA4 | c.5508_5512delinsCCCCC (p.Phe1836=) c.1884_1888delinsCCCCC (p.Phe628=) |