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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.