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