Table 1 Genetic alterations identified by next-generation sequencing
Gene | Transcript Number | Nucleotide Change | Amino Acid Alteration | Exon Position | Coding Effect | Variant Allele Frequency |
|---|---|---|---|---|---|---|
Pathogenic findings | ||||||
ARID1A | NM_006015.5 | c.1970_1971 del | p.Leu657Glnfs *18 | Exon 5 | Frameshift | 45.08% |
ARID1A | NM_006015.5 | c.4604_4605 del | p.Thr1535Argfs *36 | Exon 18 | Frameshift | 42.79% |
Variants of uncertain significance | ||||||
ATM | NM_000051.3 | c.7886_7890 del | p.Ile2629Serfs *25 | Exon 53 | Frameshift | 39.95% |
STK11 | NM_000455.4 | c.328_329 del | p.Val110Hisfs *52 | Exon 2 | Frameshift | 40.44% |
FLCN | NM_144997.6 | c.1691_1692 del | p.His564Profs *95 | Exon 14 | Frameshift | 15.81% |