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 |