Table 2.
SNVs, Indels, and exon deletions identified by the assay in Test Group
| Patient ID | Gene | RefSeq | Exon or Intron | Mutation(s) by nucleotide | Mutation(s) by amino acid | Mutation type | Conventional method of detection |
|---|---|---|---|---|---|---|---|
| F01 | FLCN | NM_144997 | exon11 | c.1285dupC | p.H429PfsX27 | Frameshift insertion, protein truncation | Sanger Sequence |
| F02 | FLCN | NM_144997 | exon11 | c.1285dupC | p.H429PfsX27 | Frameshift insertion, protein truncation | Sanger Sequence |
| F03 | FLCN | NM_144997 | exon14 | c.1579_1580insA | p.R527QfsX75 | Frameshift deletion, protein truncation | Sanger Sequence |
| F04 | FLCN | NM_144997 | exon4 | c.182_186dupACAGC | p.P63TfsX69 | Frameshift deletion, protein truncation | Sanger Sequence |
| F05 | FLCN | NM_144997 | exon12 | c.1360dupT | p.C454LfsX2 | Frameshift deletion, protein truncation | Sanger Sequence |
| F06 | FLCN | NM_144997 | exon11 | c.1285delC | p.H429TfsX39 | Frameshift deletion, protein truncation | Sanger Sequence |
| F07 | FLCN | NM_144997 | exon9 | c.946_947delAG | p.S316YfsX73 | Frameshift deletion, protein truncation | Sanger Sequence |
| F08 | FLCN | NM_144997 | exon10 | c.1156_1175del | p.S386DfsX63 | Frameshift deletion, protein truncation | Sanger Sequence |
| F09 | FLCN | NM_144997 | exon14 | c.1648_1658del | p.L550DfsX48 | Frameshift deletion, protein truncation | Sanger Sequence |
| F10 | FLCN | NM_144997 | exon6 | c.469_471delTTC | p.F157del | In-frame deletion | Sanger Sequence |
| F11 | FLCN | NM_144997 | exon13 | c.1522_1524delAAG | p.K508del | In-frame deletion | Sanger Sequence |
| F12 | FLCN | NM_144997 | intron4 | c.250–3_268del | --- | Splice site | Sanger Sequence |
| F13 | FLCN | NM_144997 | exon6 | c.507G > A | p.W169X | Nonsense mutation | Sanger Sequence |
| F14 | FLCN | NM_144997 | exon6 | c.507G > A | p.W169X | Nonsense mutation | Sanger Sequence |
| F15 | FLCN | NM_144997 | intron13 | c.1539–1G > A | --- | Splice site | Sanger Sequence |
| F16 | FLCN | NM_144997 | exon1–3 | c.-504–1355_-25 + 894 del | --- | Large intragenic deletion | MLPA |
| F17 | FLCN | NM_144997 | exon14 | c.1539–476_1740 + 1077 del | --- | Large intragenic deletion | MLPA |
| F18 | FLCN | NM_144997 | exon9–14 | c.872–562_1740 + ?a del | --- | Large intragenic deletion | MLPA |
| F19 | FLCN | NM_144997 | exon9–14 | c.872–562_1740 + ?a del | --- | Large intragenic deletion | MLPA |
aThe breakpoint is within the 3′ flank of the FLCN gene, which was not included in the panel