Table 1.

Identified candidate variants following the recessive inheritance model

Chr Position Reference allele Mutated allele Gene Amino acid change Affected Unaffected 
   Ind. 05 Ind. 06 Ind. 02 (Father) Ind. 01 (Mother) Ind. 04 
139931629 SRA1 V110L (rs117757312) 34 21 30 39 NA 
11 64506903 RASGRP2 G248W 36 24 18 41 15 
11 66458798 SPTBN2 R1841Q 21 13 21 
11 67209291 CORO1B E123Q 14 14 15 
Chr Position Reference allele Mutated allele Gene Amino acid change Affected Unaffected 
   Ind. 05 Ind. 06 Ind. 02 (Father) Ind. 01 (Mother) Ind. 04 
139931629 SRA1 V110L (rs117757312) 34 21 30 39 NA 
11 64506903 RASGRP2 G248W 36 24 18 41 15 
11 66458798 SPTBN2 R1841Q 21 13 21 
11 67209291 CORO1B E123Q 14 14 15 

Reads depth of the identified variants that passed the whole-exome filtering strategy consisting of selecting candidate variants that were nonsynonymous variants, frameshifts/insertions/deletions affecting coding regions, that were absent or reported at a low frequency (<1‰) in public databases (including the 1000 Genomes project and the Exome Variant Server), and that were found in the homozygous state in the two affected siblings (with a minimum depth of 10X) but which were heterozygous in the two unaffected parents. NA indicates that the individual is not carrying the identified variant.

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