Table 1 List of the variants identified on EDA, EDAR and EDARADD genes in the affected child investigated by NGS method
Gene name | Variant name | RS-ID | Frequency in | |||
|---|---|---|---|---|---|---|
dbSNP | Hapmap | 1000-genome | BGI’s | |||
EDA | c.898_924+8del35ins4 (Hemizygous) | Novel | - | - | 0 | 0 |
EDARADD | p.Met9Ile (Hom) | rs966365 | 0.59 | 0.881 | 0.62 | 0.8889 |
EDAR | p.Cys352Cys (Het) | rs12623957 | 0.352 | 0.066 | 0.2619 | 0.0525 |
EDAR | p.Ser250Ser (Het) | rs260632 | 0.13 | 0.007 | 0.1218 | 0.089 |