Table 4 of Iwanami, Mol Vis 2019; 25:766-779.

Table 4. The recessive genotypes of patients with arRP and sRP carrying likely pathogenic variants.

Variants Type No. of
patients Frequency
(%)
Allele 1 Allele 2
JV1 JV1 Homozygous 15 3.5
JV1 JV2 Compound heterozygous 10 2.3
JV1 JV3 Compound heterozygous 15 3.5
JV1 JV4 Compound heterozygous 3 0.7
JV1 JV5 Compound heterozygous 1 0.2
JV1 JVX Compound heterozygous 6 1.4
JV1 NI Single heterozygous 22 5.1
JV2 JV2 Homozygous 3 0.7
JV2 JV3 Compound heterozygous 7 1.6
JV2 JV4 Compound heterozygous 1 0.2
JV2 JV5 Compound heterozygous 1 0.2
JV2 JVX Compound heterozygous 5 1.2
JV2 NI Single heterozygous 14 3.2
JV3 JV3 Homozygous 5 1.2
JV3 JV4 Compound heterozygous 1 0.2
JV3 JV5 Compound heterozygous 2 0.5
JV3 JVX Compound heterozygous 5 1.2
JV3 NI Single heterozygous 19 4.4
JV4 JV4 Homozygous 2 0.5
JV4 NI Single heterozygous 2 0.5
JV5 NI Single heterozygous 1 0.2
JVX JVX Homozygous 2 0.5
JVX JVY Compound heterozygous 1 0.2
JVX NI Single heterozygous 5 1.2
    Total 148 34.3

JV1, c.4957dupA (p.(Ser1653Lysfs*2)); JV2, c.8868C>A (p.(Tyr2956*)); JV3, c.2528G>A (p.(Gly843Glu)); JV4, c.6557G>A (p.(Gly2186Glu)); JV5, c.6563T>C (p.(Ile2188Thr)); JVX and JVY, one of likely pathogenic variants; NI, not identified

Iwanami, Mol Vis 2019; 25:766-779. http://www.molvis.org/molvis/v25/766

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