Variant ID	Exon
72	Exon 50

Domains	RNA effect	Control frequency	Controls origin
CC III	RNA stability	0/>115	ethnically matched

The mRNA produced might be targeted for nonsense mediated decay (NMD).

This deletion creates a frame shift starting at codon Asn2290. The new reading frame ends in a STOP codon 10 positions downstream.

Patient information

Allele 1

Allele 2

Patient ID

Family ID

Gender

Age

Origin

Disease

Segregation

Parental consanguinity

Consanguinity degree

Exon/intron

Nucleotide nomencl.

Protein nomencl.

Detection method

Exon/intron

Nucleotide nomencl.

Protein nomencl.

Detection method

Reference

F99-1

F99

Italy

CORS

unknown

no

Exon 50

c.6869 del A

N2290fsX2300

Direct sequencing (Sanger)

Exon 22

c.2251 C>T

R751X

Direct sequencing (Sanger)

Tory (2007)

F375-1

F375

France

CORS

yes

no

Exon 50

c.6869 del A

N2290fsX2300

Direct sequencing (Sanger)

Exon 15

c.1361 del G

G454fsX458

Direct sequencing (Sanger)

Tory (2007)