Skip to main content

Table 2 Mutations identified in these families

From: Clinical and whole exome sequencing findings in children from Yunnan Yi minority ethnic group with retinitis pigmentosa: two case reports

Family

Gene

Exon

Nucleotide mutations

Protein effect

Db SNP ID

Mutation type

1

RDH12

7

c.524C > T

p.S175L

Known

Non-synonymous

2

PRPF4

13

c.1273G > A

p.G425S

Known

Non-synonymous

Back to article page

Journal of Medical Case Reports

ISSN: 1752-1947