c.103-13_103-18del (p.?)
Variant ID Exon
53 Intron 2
RNA effect Control frequency Controls origin NetGene2 BDGP
splicing change 0/>115 ethnically matched
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
F72-1 F72   France CORS yes no Intron 2 c.103-13 to -18 delGCTTTT pot abn transc Direct sequencing (Sanger) Exon 37 c.49634964 del AG R1655fsX1659 Direct sequencing (Sanger)
testpat testfam   Afghanistan H unknown unknown Exon 1 c.103-13_103-18del test1 Exon 1 - 5'UTR c.180+1G>T test2