Table 2.

The most frequent ABCA4 variants in the Dutch patient population

ABCA4 nucleotide changes	ABCA4 protein changes	Allele count patients	Allele frequency patients	Allele frequency general population a
c.5603A>T	p.(Asn1868Ile)	167	b	0.0677
c.5461‐10T>C c	p.[Thr1821Valfs*13, Thr1821Aspfs*6]	133	0.1002	0.0003
c.2588G>C d	p.[Gly863Ala, Gly863del]	115	0.0866	0.0074
c.768G>T	p.(Leu257Valfs*17)	103	0.0776	0.0006
c.5882G>A	p.(Gly1961Glu)	101	0.0761	0.0049
c.1822T>A	p.(Phe608Ile)	47	0.0354	0.0003
c.3113C>T e	p.(Ala1038Val)	35	0.0264	0.0022
c.4539 + 1G>T	p.(?)	27	0.0203	0
c.5714 + 5G>A	p.[=; Glu1863Leufs*33]	23	0.0173	0.0004
c.4139C>T	p.(Pro1380Leu)	22	0.0166	0.0001

Not included in this table are deep‐intronic variants c.4253 + 43G>A and c.769‐784C>T, which were identified in 17 and 10 patients. These variants were only recently associated with the disease and therefore not accurately represented in the database.

^a ABCA4 frequencies in 21,559 control individuals from The Netherlands.(Cremers et al. 2018)

^b This variant was only recently associated with STGD1 and therefore not accurately represented in the database. It was found as a single variant in 73 alleles.

^c c.5462‐10T>C is almost always complexed with c.5603A>T.

^d Only considered penetrant when in cis with c.5603A>T. In the general population of The Netherlands, the allele frequency of c.[2588G>C;5603A>T] is estimated to be 0.0007. (Cremers et al. 2018).

^e Found in cis with c.1622T>C in 37% of the alleles containing c.3113C>T in patients.