Table 2.
Transmitted mutations in EPHB4 and CLDN14 in VOGM
| Family | Type of VOGM | Ethnicity | Gene | Mutation | Domain affected | ExAC MAF* | gnomAD MAF* | pLI | MetaSVM | CADD |
|---|---|---|---|---|---|---|---|---|---|---|
| VGAM115 | Choroidal | European | EPHB4 | p.(Glu432fs1) | N/A | < 9.06E-06 | < 4.76E-06 | 0.99 | N/A | N/A |
| KVGAM25 | Choroidal | European | EPHB4 | p.(Ala509Gly) | Fibronectin III | 3.30E-05 | 1.13E-05 | 0.99 | D | 25 |
| KVGAM33 | Choroidal | Mexican | EPHB4 | p.(Lys650Asn) | Tyrosine kinase | < 8.24E-06 | < 4.06E-06 | 0.99 | D | 29.9 |
| KVGAM18 | Choroidal | European | EPHB4 | p.(Phe867Leu) | Tyrosine kinase | < 9.03E-06 | < 5.17E-06 | 0.99 | D | 31 |
| VGAM100 | Choroidal | Mexican | CLDN14 | p.(Ala113Pro) | Second intracellular segment | < 8.37E-06 | 8.28E-06 | 0 | D | 24.2 |
| KVGAM20 | Choroidal | European | CLDN14 | p.(Val143Met) | Second extracellular segment | 9.43E-06 | 1.24E-05 | 0 | D | 31 |
| KVGAM51 | Mural | European | CLDN14 | p.(Val143Met) | Second extracellular segment | 9.43E-06 | 1.24E-05 | 0 | D | 31 |
*
For variants not observed in public databases, their minor allele frequency is calculated as less than 1 out of total number of alleles sampled at the closest locus with allele number available