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. Author manuscript; available in PMC: 2018 Jan 26.
Published in final edited form as: J Med Genet. 2017 Apr 26;54(6):404–412. doi: 10.1136/jmedgenet-2017-104540

Table 2.

Type and frequency of the allele in trans for selected ABCA4 disease alleles

ABCA4 disease allele (no. of cases) Type and fraction (%) of the allele in trans
Deleterious (X, FS, splice) Deleterious missense Non-deleterious missense Hypomorphic
p.Asn1868Ile (60) 46.7 53.3 0 0
p.[Gly863Ala;Asn1868Ile] (35) 51.4 22.9 22.9 2.9
p.Gly1961Glu (118) 40.7 32.2 20.3 6.8
p.Arg2107His (21) 23.8 33.3 38.1 4.8
c.5461–10T>C (p.?) (36) 11.1 30.6 25 33.3

FS, frameshift mutation; splice, mutation affecting splice site; X, stop mutation.