From: SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing
Patient ID | Amino acid | Predicted pathogenicity | Allele | hg19 coordinates |
---|---|---|---|---|
LAT0820 | p.E1775K | - - - | Homozygous | chr4: 77,680,822 |
LAT0844 | p.P173H | + + + | Heterozygous | chr4:77,652,019 |
LAT0982 | p.G1864D | + + + | Heterozygous | chr4:77,692,019 |
LAT0990 | p.D537N | - - - | Homozygous | chr4: 77,660,935 |
LAT1180 | p.G60V | + + + | Homozygous | chr4:77,476,772 |