Table 2 Filtering the called variants by exome sequencing

From: A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathy

 

IV-14

IV-19

V-4

V-6

SNVs

 Called SNVs

150,251

172,375

231,744

262,960

 

↓

↓

↓

↓

 And not in the dbSNP 132

7,485

10,607

14,995

12,969

 

↓

 And shared by all four individuals

194

 

↓

 And not in our in-house database, and heterozygous

7

 

↓

 And located within the F1 linkage regions (chr1, chr14, chr15 and chr17)

7

 

↓

 And located within the F2 linkage region (chr1q23.3-24.1)

1

INDELs

 Called INDELs

62,860

60,479

58,671

75,259

 

↓

 And shared by all four individuals

5,125

 

↓

 And heterozygous

1,543

 

↓

 And located within the F1 linkage regions (chr1, chr14, chr15 and chr17)

21

 

↓

 And located within the F2 linkage region (chr1q23.3-24.1)

4

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