Table 1 Whole exome analysis of variation data with autosomal recessive homozygous model in this family with coats plus syndrome and dextrocardia phenotype
II-1(proband) | I-1(Father) | I-2(Mother) | |
|---|---|---|---|
Number of variations called(Pass/total) | 70060/78946 | ||
number of variations per subject | 54353 | 53466 | 51118 |
Novel variations(not reported in dbSNP135,TGP) count Total(homo/het) | 1696(128/1568) | 1700(143/1557) | 1530(115/1415) |
Novel protein deleterious variations(homo/het) | 370(20/350) | 381(19/362) | 360(345/15) |
Autosomal recessive homozygous model filtered variations | 7 | ||
SNV | 5(CTC1,NKTR,PER1,TEK,ZBTB4) | ||
ins/del | 2(FAM157A,MUC17) | ||
Deleterious variations after computational prediction | 4 | ||
SNV | CTC1(p.H484P),PER1(p.A772T),TEK(p.E103D) | ||
ins/del | MUC17(Q1903Hfs*13) | ||
Putative variation explaining Coats plus phenotype | c.1451A > C; p.H484P( CTC1 ) | ||