DFNA8/A12 |
Cys1057Ser | Exon 10 (zonadhesin) | Postlingual | Mild to severe, progressive | High frequency |
4
|
Cys1619Ser | Exon 14 (zonadhesin) | Variable | Mild to moderate-severe, progressive | High frequency |
3
|
Leu1820Phe, Gly1824Glu | Exon 17 (zona pellucida) | Prelingual | Mild to moderate, stable | Mid frequency |
6
|
Cys1837Gly | Exon 17 (zona pellucida) | Postlingual | Mild to moderate, progressive | Mid frequency |
5
|
Tyr1870Cys | Exon 18 (zona pellucida) | Prelingual | Moderate to moderate-severe, stable | Mid frequency |
6
|
Arg2021His | Exon 20 (zona pellucida) | Prelingual | Moderate, stable | Mid frequency |
7
|
DFNB21 |
649insC | Exon 5 | Prelingual | Moderate-severe | Flat or mid frequency | Present report |
IVS9+1G→A | Intron 9 | Prelingual | Severe-profound | Not defined |
8
|
6037delG | Exon 20 | Prelingual | Moderate-severe | Flat or mid frequency | Present report |