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 | ||||||
| 5 | 139931629 | C | G | SRA1 | V110L (rs117757312) | 34 | 21 | 30 | 39 | NA |
| 11 | 64506903 | C | A | RASGRP2 | G248W | 36 | 24 | 18 | 41 | 15 |
| 11 | 66458798 | C | T | SPTBN2 | R1841Q | 21 | 13 | 9 | 21 | 8 |
| 11 | 67209291 | C | G | CORO1B | E123Q | 14 | 14 | 7 | 15 | 6 |
| Chr | Position | Reference allele | Mutated allele | Gene | Amino acid change | Affected | Unaffected | |||
| Ind. 05 | Ind. 06 | Ind. 02 (Father) | Ind. 01 (Mother) | Ind. 04 | ||||||
| 5 | 139931629 | C | G | SRA1 | V110L (rs117757312) | 34 | 21 | 30 | 39 | NA |
| 11 | 64506903 | C | A | RASGRP2 | G248W | 36 | 24 | 18 | 41 | 15 |
| 11 | 66458798 | C | T | SPTBN2 | R1841Q | 21 | 13 | 9 | 21 | 8 |
| 11 | 67209291 | C | G | CORO1B | E123Q | 14 | 14 | 7 | 15 | 6 |
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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