Table 2.
Details of CDH-associated PLS3 variants
| Family | Inheritance | Variant position (GRCh38) | cDNA variant | Protein variant | Allele frequency (gnomAD v2.1) | CADD score (v1.6) |
|---|---|---|---|---|---|---|
| 1 | maternal | chrX:115636895G>A | c.808G>A | p.Glu270Lys | 0 | 31 |
| 2 | maternal | chrX:115646521G>C | c.1497G>C | p.Trp499Cys | 0 | 32 |
| 3 | maternal | chrX:115649442A>G | c.1774A>G | p.Met592Val | 0 | 21.8 |
| 4 | maternal | chrX:115643415A>G | c.1090A>G | p.Lys364Glu | 0 | 27.4 |
| 5 | maternal | chrX:115629319C>T | c.359C>T | p.Ser120Phe | 0 | 26.2 |
| 6 | maternal | chrX:115635001A>G | c.703A>G | p.Ile235Val | 0 | 24.8 |
| 7 | de novo | chrX:115634915C>T | c.617C>T | p.Ala206Val | 0 | 25.4 |
| 8 | maternal | chrX:115643379T>C | c.1054T>C | p.Phe352Leu | 0 | 27.8 |
Variant descriptions are provided for the canonical transcript ENST00000420625.2 or GenBank: NM_005032.