Table 4 Mutations identified in the 21 SP patients of the blinded sample group
Patient ID | Gene | RefSeq | Exon or Intron | Mutation(s) by nucleotide | Mutation(s) by amino acid | Mutation type | Zygosity | Classification | Comments |
|---|---|---|---|---|---|---|---|---|---|
F29 | FLCN | NM_144997 | exon14 | c.1648_1658del | p.L550DfsX48 | Frameshift deletion | Heterozygous | Definitely Pathogenic | |
F37 | FLCN | NM_144997 | exon6 | c.473delT | p.I158TfsX19 | Frameshift deletion | Heterozygous | Definitely Pathogenic | |
F32 | FBN1 | NM_000138 | exon51 | c.6169C > T | p.R2057X | Stopgain SNV | Heterozygous | Definitely Pathogenic | Not reported in any database |
F27 | FBN1 | NM_000138 | exon19 | c.2269G > C | p.D757H | Missense SNV | Heterozygous | Likely Pathogenic | Situates in the EGF-like calcium-binding domain of FBN1; highly conserved; predicted damaging |
F33 | TSC1 | NM_000368 | exon15 | c.1631G > A | p.G544E | Missense SNV | Heterozygous | Likely Pathogenic | Highly conserved; predicted damaging |
F34 | FLCN | NM_144997 | intron10 | c.1177–21G > A | --- | Splicing | Heterozygous | Likely Pathogenic | Branch Site mutation |