Table 2.
Characteristics of the variants identified in the LARP7 and OTOG genes.
| Chromosome | Start | End | Reference Allele | Alternative Allele | Genotype | Gene | Nucleotide Change | Amino Acid Change | Gene Impact | dbSNP ID | gnomAD_exome Allele Count | TOPMED Allele Count | ExAC_ALL Allele Count |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 4 | 113568939 | 113568941 | AAG | A | homo_alt |
LARP7
NM_015454.2 |
c.1097_1098del | p.(Arg366Thrfs*2) | frameshift substitution | rs566464249 | 4/237240 MAF 0.00002 |
6/125568 MAF 0.00005 |
3/113350 0.00003 |
| 11 | 17632554 | 17632554 | C | T | homo_alt |
OTOG NM_001277269.1 |
c.5743C>T | p.(Arg1915*) | stopgain | rs761287044 | 5/146398 MAF 0.00003 |
2/125568 MAF 0.00002 |
1/15676 0.0001 |