Table 3: Reported Pathogenic Indels larger than 20 bp.
Family No. | Clinical Diagnosis | Gene | Mutation detected | Size of indel | Zygosity | Reads | Q score |
1 | Angelman Syndrome | UBE3A | c.1254_1324del89 | 89 bp | het | 4/36 | 105 |
2 | Arthrogryposis | MYH3 | c.5605_5659-47del115 | 115 bp | het | 17/69 | 719 |
3 | Immunodeficiency | RFXANK | c.419_438+38del58 | 58 bp | het | 8/32 | 296 |
4 | Retinitis Pigmentosa | PDE6B | c.1923_1969ins6del47 | 41 bp | homo | 5/5* | 17 |
5 | Apert Syndrome | FGFR2 | c.940-165_978del204 | 204 bp | het | 37/109 | 1700 |
6 | Rubinstein-Taybi Syndrome | EP300 | c.1575_1622+121del169 | 169 bp | het | 29/134 | 1238 |
7 | Adrenal Insufficiency & Morbid Obesity | POMC | c.20_21ins25 | 25 bp | homo | 109/112 | 120 |
8 | Epilepsy, Autism, Intellectual Disability | MECP2 | c.1164_1207del44 | 44 bp | het# | 19/45 | 889 |
*Alteration covered at 5X in the proband but > 10X in carrier parents
# Identical alteration reported in two unrelated female probands with overlapping clinical features