Subject | L16S†§ | I205V‡ | V597I§ | C1666S†§ | I1954L‡§ | V1956I¶ | F1992I§ | 5′ 17 in** | 3′ 17 in†† | *M34T‡‡ |
---|---|---|---|---|---|---|---|---|---|---|
†Previously reported by Levy et al (1997).21 | ||||||||||
‡Previously reported by Adato et al (1997).33 | ||||||||||
§Previously reported by Janecke et al (1999).35 | ||||||||||
¶Novel to this report | ||||||||||
**intronic g/c SNP positioned 112 bp 5′ of exon 17 ORF | ||||||||||
††intronic a/g SNP positioned 208 bp 3′ of exon 17 ORF | ||||||||||
§§Mild auditory phenotype | ||||||||||
¶¶More servere auditory phenotype | ||||||||||
‡‡Previously reported by Kelly et al (1998).38 | ||||||||||
NT = Not determined | ||||||||||
63§§ | L/S | I | V | C/S | L | I/V | F | g | g | M |
65§§ | L/S | I | V | C/S | I/L | V | F | g | a/g | M |
66¶¶ | L/S | I | V | S | L | V | F | g | g | M |
68¶¶ | L/S | I | NT | C/S | I/L | V | F | g | a/g | M/T |