Table 4.
Variants in TONSL in Subjects without a Clinical Diagnosis of SPONASTRIME Dysplasia
| Family ID | 6 | 7 | 8 |
|---|---|---|---|
| Variant 1 | c.2137C>T, (p.Gln713∗) | c.866−1G>C | c.329G>A, (p.Trp110∗) |
| rsID | N/A | N/A | N/A |
| Frequency (gnomAD) | not present | not present | not present |
| PolyPhen | N/A | N/A | N/A |
| Sift | N/A | N/A | N/A |
| CADD | N/A | 11.62 | N/A |
| Variant 2 | c.1958C>T, (p.Thr653Met) | c.595G>A, (p.Glu199Lys) | c.1837G>T, (p.Val613Leu) |
| rsID | dbSNP: rs755055463 | N/A | N/A |
| Frequency (gnomAD) | 4/244636 | not present | not present |
| PolyPhen | probably damaging | probably damaging | probably damaging |
| Sift | damaging | damaging | damaging |
| CADD | 20.8 | 36 | 21.5 |
All coordinates utilize hg19, GenBank: NM_013432.4. Variant c.866−1G>C is predicted to affect splicing by dbscSNV55 and Human Splicing Finder 3.1.56 Abbreviations are as follows: N/A = not available.