From: A multiplex PCR amplicon sequencing assay to screen genetic hearing loss variants in newborns
Gene | Nucleotide variant | Homozygous | Heterozygous | Homoplasmy | Heteroplasmy | Total | Sensitivity (%) |
---|---|---|---|---|---|---|---|
GJB2 | c.235delC | 0 | 43 | – | – | 43 | 100 |
SLC26A4 | c.919-2A>G | 0 | 20 | – | – | 20 | 100 |
GJB2 | c.109G>A | 1 | 13 | – | – | 14 | 100 |
SLC26A4 | c.1229C>T | 0 | 9 | – | – | 9 | 100 |
GJB2 | c.299_300delAT | 0 | 9 | – | – | 9 | 100 |
MT-RNR1 | m.1555A>G | – | – | 4 | 1 | 5 | 100 |
SLC26A4 | c.1707 + 5G>A | 0 | 1 | – | – | 1 | 100 |
Total | – | 1 | 95 | 4 | 1 | 101 | 100 |