Table 3 Results of PCR followed by Sanger sequencing
Sample | Gene/transcript | Chromosome position (GRCH37) | Variant | Zygosity |
|---|---|---|---|---|
Patient | GHR NM_001242399.2 | Chr5:42.700.021 | c.556C>T p.R186C | het |
Father | GHR NM_001242399.2 | Chr5:42.700.021 | c.556C>T p.R186C | het |
Mother | GHR NM_001242399.2 | Chr5:42.700.021 | c.556C>T p.R186C | Normal homozygous |
Patient | AGBL1 NM_152336.2 | Chr15:87.217.553 | c.2969G>C p.C990S | het |
Father | AGBL1 NM_152336.2 | Chr15:87.217.553 | c.2969G>C p.C990S | Normal homozygous |
Mother | AGBL1 NM_152336.2 | Chr15:87.217.553 | c.2969G>C p.C990S | het |
Patient | ACAN NM_013227.3 | Chr15:89.417.157 | c.7418G>A p.R2473Q | het |
Father | ACAN NM_013227.3 | Chr15:89.417.157 | c.7418G>A p.R2473Q | Normal homozygous |
Mother | ACAN NM_013227.3 | Chr15:89.417.157 | c.7418G>A p.R2473Q | Normal homozygous |