Table 4 of
Rosenberg, Mol Vis 2007;
13:1962-1969.Table 4 of
Rosenberg, Mol Vis 2007;
13:1962-1969.
Table 4. Common polymorphisms and the number of involved alleles
Non-disease causing variants are extremely common among patients with Stargardt-related retinopathies. Most patients harbour several polymorphisms, which to some extent are linked indicating conserved haplotypes. Only a selected extract of polymorphisms are shown in the table.
Alleles
Mutation Effect (N)
------------ -------- -------
c.635G>A p.R212H 9
c.1268A>G p.H423R 59
c.1269C>T p.H423H 23
c.1356+5delG 95
c.2828G>A p.R943Q 32
c.4203C>A p.P1401P 47
c.4506C>T p.C1502C 1
c.4773+48C>T 127
c.5603A>T p.N1868I 62
c.5682G>C p.L1894L 129
c.5814A>G p.L1938L 66
c.5843CA>TG p.P1948L 14
c.5844A>G p.P1948P 12
c.6069C>T p.I2023I 12
c.6249C>T p.I2083I 13
c.6285T>C p.D2095D 28
c.6764G>T p.S2255I 5
c.6729+21C>T 11
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