Table 2 Genetic test results of 5 probands with early onset high myopia (F)

Gene

OPN1LW

RP2

GPR143

FRMD7

HMGB3

Nucleotide

c.797_801del

c.513G > A

c.98G > T

c.1876_1877del

c.670_675del

Amino acid

p.Val266Alafs*75

p.Trp171Ter

p.Cys33Phe

p.Met626Valfs*

22

p.Glu192_Glu193del

Chromosome

chrX:

153,421,821-

153,421,825

chrX:

46,713,321

chrX:

9,733,760

chrX: 131,212,168-

131,212,169

chrX:

150,156,358-

150,156,363

Exon

exon5

exon2

exon1

exon12

exon5

SIFT

D

Polyphen2_HDIV

D

Polyphen2_HVAR

D

LRT

D

D

Mutation Assessor

M

REVEL

0.869

phyloP100way

0.829

5.298

phastCons100way

0.866

1

FATHMM

D

CADD

5.116

3.806

PROVEAN

D

Mutation Taster

A

D

GERP++

5.62

4.51