From: Exome sequencing identifies mutations in ABCD1 and DACH2in two brothers with a distinct phenotype
Gene | Chromosome | Position | Reference | Exome sequencing | Sanger sequencing | |||||
---|---|---|---|---|---|---|---|---|---|---|
(NCBI36/hg18) | Patient 1 | Patient 2 | Mother | Patient 1 | Patient 2 | Mother | Father | |||
GNAQ | 9 | 79,726,915 | G | G/T | G/T | G | G | G | G | G |
GNAQ | 9 | 79,726,932 | T | T/A | T/A | T/A | T | T | T | T |
DACH2 | X | 85,856,344 | A | T | T | A/T | T | T | A/T | A |
ABCD1 | X | 152,654,804 | G | C | C | C/G | C | C | C/G | G |