Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.94011291_94011317dup | CA2580063562 | ABCA4 | c.5531_5557dup (p.Gln1852_Ala1853insGlyLeuIleAspLeuAlaLeuSerGln) c.1907_1933dup (p.Gln644_Ala645insGlyLeuIleAspLeuAlaLeuSerGln) | ClinVar |
1 | g.94011305G>A | CA418816852 | ABCA4 | c.5541C>T (p.Asp1847=) c.1917C>T (p.Asp639=) | dbSNP COSMIC |
1 | g.94011305G>C | CA341281052 | ABCA4 | c.5541C>G (p.Asp1847Glu) c.1917C>G (p.Asp639Glu) | gnomAD v4 |
1 | g.94011305G= | CA1181407978 | ABCA4 | c.5541C= (p.Asp1847=) c.1917C= (p.Asp639=) | |
1 | g.94011305G>T | CA341281053 | ABCA4 | c.5541C>A (p.Asp1847Glu) c.1917C>A (p.Asp639Glu) | |
1 | g.94011306T>A | CA341281054 | ABCA4 | c.5540A>T (p.Asp1847Val) c.1916A>T (p.Asp639Val) | |
1 | g.94011306T>C | CA341281056 | ABCA4 | c.5540A>G (p.Asp1847Gly) c.1916A>G (p.Asp639Gly) | |
1 | g.94011306T>G | CA341281055 | ABCA4 | c.5540A>C (p.Asp1847Ala) c.1916A>C (p.Asp639Ala) | |
1 | g.94011307C>A | CA341281057 | ABCA4 | c.5539G>T (p.Asp1847Tyr) c.1915G>T (p.Asp639Tyr) | |
1 | g.94011307C>G | CA341281059 | ABCA4 | c.5539G>C (p.Asp1847His) c.1915G>C (p.Asp639His) | |
1 | g.94011307C>T | CA341281058 | ABCA4 | c.5539G>A (p.Asp1847Asn) c.1915G>A (p.Asp639Asn) | |
1 | g.94011308A>C | CA341281060 | ABCA4 | c.5538T>G (p.Ile1846Met) c.1914T>G (p.Ile638Met) | |
1 | g.94011308A>G | CA418816860 | ABCA4 | c.5538T>C (p.Ile1846=) c.1914T>C (p.Ile638=) | gnomAD v4 |
1 | g.94011308A>T | CA418816862 | ABCA4 | c.5538T>A (p.Ile1846=) c.1914T>A (p.Ile638=) | |
1 | g.94011309A= | CA1140726114 | ABCA4 | c.5537T= (p.Ile1846=) c.1913T= (p.Ile638=) | |
1 | g.94011309A>C | CA341281061 | ABCA4 | c.5537T>G (p.Ile1846Ser) c.1913T>G (p.Ile638Ser) | |
1 | g.94011309A>G | CA227317 | ABCA4 | c.5537T>C (p.Ile1846Thr) c.1913T>C (p.Ile638Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.94011309A>T | CA341281062 | ABCA4 | c.5537T>A (p.Ile1846Asn) c.1913T>A (p.Ile638Asn) | |
1 | g.94011310T>A | CA341281063 | ABCA4 | c.5536A>T (p.Ile1846Phe) c.1912A>T (p.Ile638Phe) | |
1 | g.94011310T>C | CA341281065 | ABCA4 | c.5536A>G (p.Ile1846Val) c.1912A>G (p.Ile638Val) | gnomAD v4 |
1 | g.94011310T>G | CA341281064 | ABCA4 | c.5536A>C (p.Ile1846Leu) c.1912A>C (p.Ile638Leu) | |
1 | g.94011311G>A | CA418816882 | ABCA4 | c.5535C>T (p.Leu1845=) c.1911C>T (p.Leu637=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.94011311G>C | CA418816880 | ABCA4 | c.5535C>G (p.Leu1845=) c.1911C>G (p.Leu637=) | |
1 | g.94011311G= | CA1181407983 | ABCA4 | c.5535C= (p.Leu1845=) c.1911C= (p.Leu637=) | |
1 | g.94011311G>T | CA418816878 | ABCA4 | c.5535C>A (p.Leu1845=) c.1911C>A (p.Leu637=) | |
1 | g.94011312A>C | CA341281066 | ABCA4 | c.5534T>G (p.Leu1845Arg) c.1910T>G (p.Leu637Arg) | |
1 | g.94011312A>G | CA341281068 | ABCA4 | c.5534T>C (p.Leu1845Pro) c.1910T>C (p.Leu637Pro) | |
1 | g.94011312A>T | CA341281067 | ABCA4 | c.5534T>A (p.Leu1845His) c.1910T>A (p.Leu637His) | |
1 | g.94011312_94011318delinsAGGCCCC | CA1181407987 | ABCA4 | c.5528_5534delinsGGGGCCT (p.Arg1843=) c.1904_1910delinsGGGGCCT (p.Arg635=) | |
1 | g.94011313G>A | CA341281069 | ABCA4 | c.5533C>T (p.Leu1845Phe) c.1909C>T (p.Leu637Phe) | ClinVar dbSNP gnomAD v4 |
1 | g.94011313G>C | CA341281070 | ABCA4 | c.5533C>G (p.Leu1845Val) c.1909C>G (p.Leu637Val) | |
1 | g.94011313G= | CA1181407996 | ABCA4 | c.5533C= (p.Leu1845=) c.1909C= (p.Leu637=) | |
1 | g.94011313G>T | CA341281071 | ABCA4 | c.5533C>A (p.Leu1845Ile) c.1909C>A (p.Leu637Ile) | ClinVar |
1 | g.94011318_94011323del | CA645372214 | ABCA4 | c.5528_5533del (p.Arg1843_Gly1844del) c.1904_1909del (p.Arg635_Gly636del) | ClinVar dbSNP |
1 | g.94011314G>A | CA418816892 | ABCA4 | c.5532C>T (p.Gly1844=) c.1908C>T (p.Gly636=) | |
1 | g.94011314G>C | CA418816895 | ABCA4 | c.5532C>G (p.Gly1844=) c.1908C>G (p.Gly636=) | |
1 | g.94011314G>T | CA418816897 | ABCA4 | c.5532C>A (p.Gly1844=) c.1908C>A (p.Gly636=) | |
1 | g.94011315C>A | CA341281072 | ABCA4 | c.5531G>T (p.Gly1844Val) c.1907G>T (p.Gly636Val) | |
1 | g.94011315C= | CA1181408000 | ABCA4 | c.5531G= (p.Gly1844=) c.1907G= (p.Gly636=) | |
1 | g.94011315C>G | CA341281073 | ABCA4 | c.5531G>C (p.Gly1844Ala) c.1907G>C (p.Gly636Ala) | |
1 | g.94011315C>T | CA341281074 | ABCA4 | c.5531G>A (p.Gly1844Asp) c.1907G>A (p.Gly636Asp) | ClinVar dbSNP gnomAD v4 |
1 | g.94011316C>A | CA341281077 | ABCA4 | c.5530G>T (p.Gly1844Cys) c.1906G>T (p.Gly636Cys) | ClinVar dbSNP gnomAD v4 |
1 | g.94011316C>G | CA341281075 | ABCA4 | c.5530G>C (p.Gly1844Arg) c.1906G>C (p.Gly636Arg) | |
1 | g.94011316C>T | CA341281076 | ABCA4 | c.5530G>A (p.Gly1844Ser) c.1906G>A (p.Gly636Ser) | |
1 | g.94011319_94011323del | CA2586964110 | ABCA4 | c.5526_5530del (p.Arg1843ProfsTer3) c.1902_1906del (p.Arg635ProfsTer3) | |
1 | g.94011317C>A | CA418816898 | ABCA4 | c.5529G>T (p.Arg1843=) c.1905G>T (p.Arg635=) | |
1 | g.94011317C= | CA1181408002 | ABCA4 | c.5529G= (p.Arg1843=) c.1905G= (p.Arg635=) | |
1 | g.94011317C>G | CA418816899 | ABCA4 | c.5529G>C (p.Arg1843=) c.1905G>C (p.Arg635=) | |
1 | g.94011317C>T | CA418816900 | ABCA4 | c.5529G>A (p.Arg1843=) c.1905G>A (p.Arg635=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.94011318C>A | CA341281078 | ABCA4 | c.5528G>T (p.Arg1843Leu) c.1904G>T (p.Arg635Leu) |