(bp) / Missed (bp) / Covered (%) / Amplicons
UMOD / chr16 / 20348612 / 20348775 / 163 / 1 / 99,39 / 2
UMOD / chr16 / 20346803 / 20346842 / 39 / 0 / 100 / 1
UMOD / chr16 / 20352412 / 20352658 / 246 / 11 / 95,53 / 2
UMOD / chr16 / 20357447 / 20357656 / 209 / 0 / 100 / 2
UMOD / chr16 / 20359757 / 20360534 / 777 / 0 / 100 / 5
UMOD / chr16 / 20359544 / 20359652 / 108 / 0 / 100 / 1
UMOD / chr16 / 20344635 / 20344697 / 62 / 0 / 100 / 1
UMOD / chr16 / 20361971 / 20362059 / 88 / 0 / 100 / 1
UMOD / chr16 / 20347967 / 20348049 / 82 / 0 / 100 / 1
UMOD / chr16 / 20355345 / 20355494 / 149 / 0 / 100 / 2
Suppl. Table 1. Summary of the UMODamplicons that covered the 10 coding exons.
Suppl. figure 1. Nucleotide reads for the 18 amplicons that covered the UMOD coding exons in one of the DNA pools. The lanes for 20 (20x) and 50 (50x) nucleotide reads per amplicon are indicated.
Suppl figure 2. Figure 1: A) Load density (83%) and total output (814 Mb) of the semiconductor chip, where red color indicate filled chip wells . B) Summary of the main chip: % of usable, polyclonal, and low quality reads. C) Histogram corresponding to the read length values. D) Reads alignment quality values.
Suppl figure 3. A. NGS-IGV of the amplicon containing the p.V458L variant in one of the DNA pools. B. Sanger electropherogramm of one individual heterozygous for this variant. C. PCR-RFLP of five individuals, one heterozygous for this variant (lane 3).