Table 2 Intronic variants found in the study.

From: Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants

NO.

Gene

Disease/ Inheritance

Zyg

Genomic Positions (hg38)

cDNA variant

First Report Study

1

EYS

RP/

AR

Het

chr6:63964152 T > C

c.7055+20231 A > G

This study

2

EYS

RP/

AR

Het

chr6:65226028 A > C

c.2023+69835 T > G

This study

3

HGSNAT

RP/

AR

Het

chr8:43146937 A > G

c.119-11 A > G

This study

4

MYO7A

Usher syndrome /

AR

Hom

chr11:77214594 C > G

c.6559-13 C > G

This study

5

RIMS1

CRD/

AD

Het

chr6:72106499 T > A

c.471+6513 T > A

This study

  1. Zyg zygosity, Het heterozygous, Hom homozygous, chr chromosome.
Back to article page