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Table 4 Exome sequencing and filtering strategy in LAT1180¶

From: SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing

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

  1. ¶An autosomal recessive inheritance model was assumed.