| 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.94011295T>A | CA341281033 | ABCA4 | c.5551A>T (p.Ser1851Cys) c.1927A>T (p.Ser643Cys) | |
| 1 | g.94011295T>C | CA341281034 | ABCA4 | c.5551A>G (p.Ser1851Gly) c.1927A>G (p.Ser643Gly) | |
| 1 | g.94011295T>G | CA341281035 | ABCA4 | c.5551A>C (p.Ser1851Arg) c.1927A>C (p.Ser643Arg) | |
| 1 | g.94011296C>A | CA418816792 | ABCA4 | c.5550G>T (p.Leu1850=) c.1926G>T (p.Leu642=) | |
| 1 | g.94011296C= | CA1181407963 | ABCA4 | c.5550G= (p.Leu1850=) c.1926G= (p.Leu642=) | |
| 1 | g.94011296C>G | CA418816794 | ABCA4 | c.5550G>C (p.Leu1850=) c.1926G>C (p.Leu642=) | |
| 1 | g.94011296C>T | CA957224 | ABCA4 | c.5550G>A (p.Leu1850=) c.1926G>A (p.Leu642=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94011297A= | CA1144184223 | ABCA4 | c.5549T= (p.Leu1850=) c.1925T= (p.Leu642=) | |
| 1 | g.94011297A>C | CA341281037 | ABCA4 | c.5549T>G (p.Leu1850Arg) c.1925T>G (p.Leu642Arg) | |
| 1 | g.94011297A>G | CA244968 | ABCA4 | c.5549T>C (p.Leu1850Pro) c.1925T>C (p.Leu642Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94011297A>T | CA341281036 | ABCA4 | c.5549T>A (p.Leu1850Gln) c.1925T>A (p.Leu642Gln) | |
| 1 | g.94011298G>A | CA418816806 | ABCA4 | c.5548C>T (p.Leu1850=) c.1924C>T (p.Leu642=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94011298G>C | CA341281038 | ABCA4 | c.5548C>G (p.Leu1850Val) c.1924C>G (p.Leu642Val) | gnomAD v4 |
| 1 | g.94011298G= | CA1181407975 | ABCA4 | c.5548C= (p.Leu1850=) c.1924C= (p.Leu642=) | |
| 1 | g.94011298G>T | CA341281039 | ABCA4 | c.5548C>A (p.Leu1850Met) c.1924C>A (p.Leu642Met) | |
| 1 | g.94011299T>A | CA418816813 | ABCA4 | c.5547A>T (p.Ala1849=) c.1923A>T (p.Ala641=) | |
| 1 | g.94011299T>C | CA418816815 | ABCA4 | c.5547A>G (p.Ala1849=) c.1923A>G (p.Ala641=) | |
| 1 | g.94011299T>G | CA418816819 | ABCA4 | c.5547A>C (p.Ala1849=) c.1923A>C (p.Ala641=) | |
| 1 | g.94011300G>A | CA341281040 | ABCA4 | c.5546C>T (p.Ala1849Val) c.1922C>T (p.Ala641Val) | |
| 1 | g.94011300G>C | CA341281041 | ABCA4 | c.5546C>G (p.Ala1849Gly) c.1922C>G (p.Ala641Gly) | |
| 1 | g.94011300G>T | CA341281042 | ABCA4 | c.5546C>A (p.Ala1849Glu) c.1922C>A (p.Ala641Glu) | |
| 1 | g.94011301C>A | CA341281045 | ABCA4 | c.5545G>T (p.Ala1849Ser) c.1921G>T (p.Ala641Ser) | |
| 1 | g.94011301C>G | CA341281043 | ABCA4 | c.5545G>C (p.Ala1849Pro) c.1921G>C (p.Ala641Pro) | |
| 1 | g.94011301C>T | CA341281044 | ABCA4 | c.5545G>A (p.Ala1849Thr) c.1921G>A (p.Ala641Thr) | |
| 1 | g.94011302A>C | CA418816835 | ABCA4 | c.5544T>G (p.Leu1848=) c.1920T>G (p.Leu640=) | COSMIC COSMIC |
| 1 | g.94011302A>G | CA418816840 | ABCA4 | c.5544T>C (p.Leu1848=) c.1920T>C (p.Leu640=) | |
| 1 | g.94011302A>T | CA418816843 | ABCA4 | c.5544T>A (p.Leu1848=) c.1920T>A (p.Leu640=) | |
| 1 | g.94011303A>C | CA341281046 | ABCA4 | c.5543T>G (p.Leu1848Arg) c.1919T>G (p.Leu640Arg) | |
| 1 | g.94011303A>G | CA341281047 | ABCA4 | c.5543T>C (p.Leu1848Pro) c.1919T>C (p.Leu640Pro) | |
| 1 | g.94011303A>T | CA341281048 | ABCA4 | c.5543T>A (p.Leu1848His) c.1919T>A (p.Leu640His) | |
| 1 | g.94011304G>A | CA341281049 | ABCA4 | c.5542C>T (p.Leu1848Phe) c.1918C>T (p.Leu640Phe) | ClinVar dbSNP |
| 1 | g.94011304G>C | CA341281050 | ABCA4 | c.5542C>G (p.Leu1848Val) c.1918C>G (p.Leu640Val) | gnomAD v4 |
| 1 | g.94011304G>T | CA341281051 | ABCA4 | c.5542C>A (p.Leu1848Ile) c.1918C>A (p.Leu640Ile) | |
| 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 |