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. 2016 Jun 15;5(3):174–180. doi: 10.1055/s-0036-1584358

Table 1. Variants detected in the DNA of the proband upon sequencing (A) and dosage analysis (B).

Nucleotide change Amino acid change Exon/intron rs IDa accession number Variant state
A c.395C>T p.(Ser132Leu) Exon 3 – Heterozygous
c.498T>C p.(=) Exon 4 150193069 Heterozygous
c.3063+7G>C Intron 25 2228098 Heterozygous
B c.256-?_334+?del p.(Ser86Valfs*119) Deletion of exon 2 – Heterozygous
a

rs ID: reference single nucleotide polymorphism identity.