Genotypes of 92 pregnancies in 59 families
| Number of families | Maternal mutation (Mm) | Paternal mutation (Mp) | N/N | N/Mm | N/Mp | Mm/Mp |
|---|---|---|---|---|---|---|
| Genotypes are based on linkage analysis. N, normal allele; NI, not identified. | ||||||
| 10 | F119L | R141H | 2 | 5 | 5 | 8 |
| 14 | R141H | F119L | 5 | 3 | 6 | 8 |
| 1 | G15R | R141H | 1 | |||
| 1 | D65Y | R141H | 1 | 1 | ||
| 2 | V129M | R141H | 2 | |||
| 1 | E139K | R141H | 1 | |||
| 1 | R162W | R141H | 1 | |||
| 2 | D188G | R141H | 2 | 1 | ||
| 3 | V231M | R141H | 1 | 1 | 1 | |
| 1 | T237M | R141H | 1 | |||
| 1 | R141H | D65Y | 1 | 1 | ||
| 1 | R141H | P69S | 1 | |||
| 1 | R141H | A108V | 1 | |||
| 1 | R141H | P113A | 1 | |||
| 2 | R141H | P113L | 1 | 1 | 1 | |
| 2 | R141H | E139K | 1 | 1 | 1 | |
| 1 | R141H | D188G | 1 | 1 | 4 | |
| 2 | R141H | V231M | 1 | 2 | ||
| 1 | R141H | NI | 1 | |||
| 1 | F119L | G117R | 1 | 2 | ||
| 1 | F119L | V231M | 1 | |||
| 1 | D65Y | R123Q | 1 | |||
| 1 | c.389_390delC | T237M | 1 | |||
| 1 | V129M | IVS3+2 T→C | 1 | |||
| 1 | F157S | V231M | 1 | |||
| 1 | R162W | R123Q | 1 | 2 | ||
| 1 | H218L | IVS3+2 T→C | 1 | |||
| 1 | V231M | D188G | 1 | |||
| 1 | V231M | I120T | 1 | |||
| 1 | NI | L32R | 1 | |||