Suzanne de Bruijn

273 Exploring the missing heritability in subjects with hearing loss and EVA 3 5 2 8 2 2 1 5 1 4 1 5 SLC003 6 7 2 4 2 6 1 5 2 8 2 5 1 7 1 4 1 3 6 5 2 8 2 4 6 7 2 4 2 6 1 7 1 4 1 3 SLC012 3 5 2 8 2 5 7 7 1 4 1 5 SLC013 3 5 2 8 2 5 3 7 1 4 1 5 SLC031 3 8 2 9 2 6 3 7 2 4 2 5 1 7 1 4 1 5 5 8 2 7 2 2 3 8 2 9 2 6 1 7 1 4 1 5 SLC036 3 5 2 8 2 1 5 7 1 4 1 5 SLC039 7 6 2 2 2 4 8 5 2 9 2 2 7 7 1 4 1 4 3 5 2 8 2 5 7 6 2 2 2 4 7 7 1 4 1 4 SLC040 6 7 2 4 2 6 7 7 1 4 1 4 SLC056 7 ? 2 6 2 ? 8 ? 2 6 2 ? 7 7 1 4 1 5 7 7 2 4 2 6 7 1 2 6 2 4 7 7 1 4 1 5 SLC071 7 6 2 8 2 4 7 7 1 4 1 5 SLC078 7 6 2 8 2 4 7 7 1 4 1 5 6 5 2 8 2 5 7 7 1 4 1 3 SLC079 5 4 2 8 2 6 7 7 1 4 1 5 SLC080 Marker D7S501 D7S2420 rs199667576 D7S496 rs199915614 D7S2459 Mb 106.44 106.89 106.99 107.15 107.24 107.33 Marker D7S501 D7S2420 rs199667576 D7S496 rs199915614 D7S2459 Mb 106.44 106.89 106.99 107.15 107.24 107.33 Marker D7S501 D7S2420 rs199667576 D7S496 rs199915614 D7S2459 Mb 106.44 106.89 106.99 107.15 107.24 107.33 Marker D7S501 D7S2420 rs199667576 D7S496 rs199915614 D7S2459 Mb 106.44 106.89 106.99 107.15 107.24 107.33 M1/+ +/CEVA M1/+ +/CEVA M1/CEVA M1/CEVA M1/CEVA M1/CEVA M1/CEVA +/CEVA +/CEVA-V1 M1/+ M1/+ +/CEVA-V1 M1/V1-CEVA M1/CEVA M1/V1-CEVA M1/CEVA M1/CEVA M1/CEVA +/CEVA Figure S2. Family pedigrees with haplotypes of VNTR markers. The allele carrying the CEVA haplotype is marked in red. VNTR markers for which the phase of the alleles could be conclusively determined via segregation in the family are marked in bold. Genomic positions (Mb) on chromosome 7 are according to the UCSC genome browser (GRCh37/hg19). VNTR makers of the CEVA haplotype are marked in red. A shared haplotype of 0.89 Mb delimited by the markers D7S501 and D7S2459 was identified. A different repeat length was determined for marker D7S2420 in individual SLC003, the marker is still considered to be potentially part of the shared haplotype as a change of repeat length cannot be excluded. +, wildtype allele; M1, (likely) pathogenic SLC26A4 variant.