Table 2 Variants identified by whole-exome sequencing
Patient ID | Variant (NM no.)/parent results | SIFT | PolyPhen-2 | gnomAD | EVS | Conservation in species | MutationTaster | Grantham score |
|---|---|---|---|---|---|---|---|---|
NE_NS 001 | CUL4B c.632A>G (p.Asn211Ser) (NM_003588)/maternal | 0.4 | 0.001 | 0 | 0 | 10/13 | Disease-causing | 46 |
NE_NS 005 | KCNQ2 c.634G>T (p.Asp212Tyr) (NM_172109)/de novo | 0 | 0.999 | 0 | 0 | 11/12 | Disease-causing | 160 |
NE_NS 009 | AACS c.1894G>A (p.Gly632Ser) (NM_023928)/both parents heterozygous | 0.01 | 0.959 | 10a | 0 | 10/12 | Disease-causing | 56 |
NE_NS 010 | GNAO1 c.118G>A (p.Gly40Arg) (NM_020988)/de novo | 0 | 1 | 0 | 0 | 10/13 | Disease-causing | 125 |
NE_NS 015 | SCN2A c.4633A>G (p.Met1545Val) (NM_001040143)/de novo | 0.01 | 0.43 | 0 | 0 | 11/12 | Disease-causing | 21 |
NE_NS 017 | RAI1 c.1692G>A (p.Met564Ile) (NM_030665)/de novo | 0.04 | 0.914 | 2b | 0 | 10/12 | Disease-causing | 10 |
NE_NS019 | LIAS c.757G>C (p.Ala253Pro) (maternal)/c.708T>G (p.His236Gln) (paternal)/(NM_006859.2) | 0/0 | 1/1 | 1c-0 | 0/0 | 13/13 | Disease-causing/Disease-causing | 27/24 |
