Table 6. Validation of single nucleotide variants and confirmation of the diagnosis in a family with MYO15A-associated deafness.
Variant in NM_016239.4 (MYO15A) | Proband | Healthy mother | Affected sibs |
---|---|---|---|
c.823G>C | G/C | G/C | G/C |
c.3576G>A | G/A | G/G | G/A |
c.5192T>C | T/C | T/C | T/C |