Fig. 4

Summary of the CLCNKB deletion alleles identified in this study. Breakpoint regions are indicated by coloured vertical lines. Corresponding breakpoint regions are indicated by coloured arrows. Identical breakpoint regions are coloured in the same colour. Two common CLCNKA 3′ UTR sequence transpositions identified in this study are indicated by the orange box within the yellow box of CLCNKA. Breakpoint region coordinates of the 2.2 kb and 3 kb sized sequence transpositions are listed in Additional file 1: Table S3. Exons are indicated as vertical bars. Orientation and length of CLCNKA and CLCNKB are indicated by grey arrows. The gene FAM131C, located on the negative strand, is indicated by the grey-hatched arrow and is only partially visualized. FAM131C exons are indicated by dotted lines. A Deletion allele A is derived from the reference haplotype. Deletion alleles B, C, and D are derived from the smaller 2.2 kb sized sequence transposition haplotype. Deletion alleles E and F are derived from the larger 3 kb sized sequence transposition haplotype. Adjacent breakpoint region coordinates that discriminate the deletion alleles E and F are listed in Additional file 1: Table S3. All patients show the corresponding deletion allele in a homozygous state if not indicated otherwise. B Deletion alleles G and H that result in CLCNKA/CLCNKB hybrid genes. Since the haplotype-defining genomic sequence is deleted on these alleles, a haplotype determination could not be made. † Patients, compound heterozygous for the deletion alleles B and F; ‡ Heterozygous deletion allele. This patient carries a 5 bp deletion in exon 9 in trans