TABLE 2.
Nonsynonymous NTD case‐specific variants within the VCL coding region found in the cohort.
| Nucleotide change a | aa. change b | SIFT | Mutation Taster2 | Number in Case (387) | Number in Control (224) | dbSNP |
MAF 1000G freq |
MAF in gnomAD |
|---|---|---|---|---|---|---|---|---|
| c.625A>T | p.M209L |
0.28 Tolerated |
disease causing | 1 | 0 | rs144683137 | 2 × 10−4 | 3.6 × 10−5 |
| c.768delT | p.D256fs | NA c | disease causing | 1 | 0 | NA | NA | NA |
| c.1663C>G | p.L555V |
0.008 Damaging |
disease causing | 1 | 0 | NA | NA | NA |
| c.1757G>A | p.R586Q |
0.57 Tolerated |
probably harmless | 2 | 0 | rs774076269 | NA | 8.0 × 10−6 |
a
For nucleotide numbering, +1 corresponds to the A of ATG of mRNA sequence NM_003373.3.
b
Reference protein sequence NP_003364.1.
c
Not available.