Table 1.
Gene | Chr | dbSNP | DNA ref (HG19/GRC37) | Protein ref | Proband GT | Father GT | Mother GT | Unaffected sib GT | Variant type | CADD |
---|---|---|---|---|---|---|---|---|---|---|
ZMYND11 | 10 | NA | g.294310G>A | ENSP00000381053.3:p.Ser421Asn | G|A | G|G | G|G | G|G | NSC | 28.5 |
Coverage depth | 92 | 98 | 132 | 103 |
dbSNP, Databse for Short Genetic Variations; GT, genotype; NSC, missense variant, CADD, Combined Annotation-Dependent Depletion score; NA, not applicable.