Table 2 of Midgley, Mol Vis 2020; 26:613-622.
Genotypes | Number of unaffected individuals | Number of affected individuals | Median age of onset | Age of onset range | |
---|---|---|---|---|---|
Allele1 | Allele2 | ||||
c.5603A>T | 6 | 0 | N/A | N/A | |
c.5603A>T | c.5603A>T | 1 | 0 | N/A | N/A |
c.5603A>T | c.6079C>T | 1 | 0 | N/A | N/A |
[c.5603A>T; c.4469G>A] | 36 | 4* | 12 | 12 | |
[c.5603A>T; c.4469G>A] | c.5603A>T | 4 | 0 | N/A | N/A |
[c.5603A>T; c.4469G>A] | [c.5603A>T;c.4469G>A] | 0 | 12 | 8 | 7 - 10 |
[c.5603A>T; c.4469G>A] | c.6079C>T | 0 | 7 | 11 | 7 - 15 |
[c.5603A>T; c.4469G>A] | c.454C>T | 0 | 2 | 8 | 7 - 9 |
[c.5603A>T; c.4469G>A] | c.3304G>T | 0 | 1 | 13 | 13 |
[c.5603A>T;c.4469G>A] | c.1804C>T | 0 | 10 | 8.5 | 4 - 12 |
[c.5603A>T; c.4469G>A] | c.768G>T | 0 | 3 | 7 | 5 - 9 |
[c.5603A>T; c.4469G>A] | c.6107A>G | 0 | 1 | 18 | 18 |
[c.5603A>T; c.4469G>A] | c.4169T>C | 0 | 2 | 8 | 8 |
[c.5603A>T; c.4469G>A] | c.5714+5G>A | 0 | 2 | 10 | 9 - 11 |
[c.5603A>T; c.5461–10T>C] | 12 | 0 | N/A | N/A | |
[c.5603A>T; c.5461–10T>C] | c.5603A>T | 1 | 0 | N/A | N/A |
[c.5603A>T; c.5461–10T>C] | [c.5603A>T; c.5461–10T>C] | 0 | 4 | 7 | 6 - 9 |
[c.5603A>T; c.5461–10T>C] | c.454C>T | 0 | 2 | 6.5 | 5 - 8 |
[c.5603A>T; c.5461–10T>C] | c.3056C>T | 0 | 2 | 7.5 | 6 - 9 |
[c.5603A>T; c.5461–10T>C] | c.2966T>C | 0 | 1 | 13 | 13 |
[c.5603A>T; c.5461–10T>C] | c.1804C>T | 0 | 1 | 11 | 11 |
[c.2588G>C; c.5603A>T] | 7 | 1* | 6 | 6 | |
[c.2588G>C; c.5603A>T] | c.5603A>T | 1 | 0 | N/A | N/A |
[c.2588G>C; c.5603A>T] | c.768G>T | 0 | 1 | 20 | 20 |
[c.2588G>C; c.5603A>T] | c.454C>T | 0 | 2 | 30 | 30 |
[c.2588G>C; c.5603A>T] | [c.6282+7G>A>A,c.4319T>C] | 0 | 2 | 16 | 5 - 27 |
[c.5603A>T, c.4469G>A] | [c.5603A>T; c.2588G>C] | 0 | 2 | 17.5 | 16 - 19 |
[c.5603A>T; c.4469G>A] | [c.5603A>T; c.5461–10T>C] | 0 | 8 | 8 | 0 - 10 |