TABLE 2.
CNV | Zygosity State | Breakpoint | ||
Genomic Coordinates | Length (bp) | HGVS Notation | ||
5′UTR, exon 1 | Heterozygous | Chr8: 19,795,544–19,801,460 | 5,917 | g.19795544-19801460del |
c.1_88del | ||||
p.Met1? | ||||
5′UTR, exon 2 | Heterozygous | Chr8: 19,795,150–19,806,747 | 11,598 | g.19795150-19806747del |
c.1_249del | ||||
p.Met1? |
The sequences are in the forward-strand orientation. Chr, chromosome; HGVS, Human Genome Variation Society.