Table 3. Summary of rare and potentially deleterious TCF4 variants identified in a FECD CTG18.1 Exp- cohort (n = 134).
| Variant ID | FECD Exp− Cases (n = 134) | Variant (hg38) | HGVSc, HGVSp | CADD, MAF gnomAD | Included within CoCoRV analysis |
|---|---|---|---|---|---|
| 1a | Proband A | chr18:55588479-C-A | ENST00000566286.1: c.57G>T, p.(Arg19Ser) | 18.3, 0 | Yes |
| 1b | Proband A | chr18:55588478-T-A | ENST00000566286.1: c.58A>T, p.(Lys20Ter) | 16.45, 0 | Yes |
| 2 | Proband B | chr18:55588470-C-T | ENST00000566286.1: c.66G>A, p.(Glu22 =) | 18.39, 0.002122 | Yes |
| 3 | Proband C | chr18:55464063-T-C | ENST00000354452.3: c.207+13A>G | 20.6, 0.0002234 | Yes |
| 4 | Proband D | chr18:55403689-A-G | ENST00000544241.2: c.26T>C, p.(Ile9Thr) | 17.29, 0 | Yes |
| 5 | Proband E | chr18:55321599-C-T | ENST00000354452.3: c.549+28760G>A | 16.74, 0 | No* |
| 6 | Proband F | chr18:55261560-A-C | ENST00000354452.3: c.923-27T>G | 22.3, 0.0007644 | Yes |
| 7 | Proband G | chr18:55261512-G-A | ENST00000354452.3: c.944C>T, p.(Ala315Val) | 24.6, 0.0005734 | Yes |
Rare (MAF < 0.005 in gnomAD genomes) and potentially deleterious (CADD score threshold of >15) TCF4 variants identified within a FECD CTG18.1 Exp- cohort (n = 134). Abbreviations are as follows: gnomAD, The Genome Aggregation Database; MAF, minor allele frequency, HGVSc, coding DNA sequence based on the Human Genome Variation Society; HGVSp, protein sequence based on the Human Genome Variation Society. *Variant filtered out at Variant Quality Score Recalibration step.