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KIZ Mutations Causing RCD
| Index individual | Family | Exon | Nucleotide Exchangea | Allele State | Protein Effect |
|---|---|---|---|---|---|
| CIC00173 (II.2) | A (128) | 3 | c.226C>T | homozygous | p.Arg76∗ |
| CIC01611 (II.1) | B (951) | 3 | c.226C>T | homozygous | p.Arg76∗ |
| CIC01225 (II.1) | C (737) | 1 | c.52G>T | heterozygous | p.Glu18∗ |
| 2 | c.119_122delAACT | heterozygous | p.Lys40Ilefs∗14 |
RefSeq NM_018474.4.
