Table 4

Exome sequencing and filtering strategy in LAT1180¶

Total variants identified

70,812

Total coding variants identified

26,065

Total dbSNP132 variants

63,728

Total changes not present in dbSNP132 database

7,084

Coding changes

4,351

Homozygous missense changes

62

Homozygous missense changes not present in 1000 Genomes data

36

Homozygous missense changes on chromosomes 1, 4, 7, 13, 15, 18

18

Homozygous missense changes within absence-of-heterozygosity

4


¶An autosomal recessive inheritance model was assumed.

Tariq et al. Genome Biology 2011 12:R91   doi:10.1186/gb-2011-12-9-r91

Open Data