Table 3.
Mutations of the PKD2 gene in 2 patients with IAs
Case No. | Exon | Kind of mutation | Mutation | Amino acid | Established |
---|---|---|---|---|---|
14 | 4 | missense | 964 C/T | R 322 W | highly likely pathogenic |
15 | 13 | missense | 2420 G/A | R 807 Q | undetermined |
Mutations of the PKD2 gene in 2 patients with IAs
Case No. | Exon | Kind of mutation | Mutation | Amino acid | Established |
---|---|---|---|---|---|
14 | 4 | missense | 964 C/T | R 322 W | highly likely pathogenic |
15 | 13 | missense | 2420 G/A | R 807 Q | undetermined |