Table 1. Genetic analysis of the 75 MYH9-RD patients described in this study.
| Aminoacid change | Nucleotide change | n° of patients (n° of families) | ||
| Enrolled | Previously reported | Ref. | ||
| p.A95D | c.284C>A | 2 (1) | 2 (1) | 9 |
| p.S96L | c.287C>T | 2 (2) | 1 (1) | 9 |
| p.R702C | c.2104C>T | 11 (10) | 9 (9) | 9 |
| p.R702H | c.2105G>A | 2 (2) | 2 (2) | 9 |
| p.E1066-A1072del | c.3195_3215del | 1 (1) | 1(1) | 9 |
| p.E1066-A1072dup | c.3195_3215dup | 1 (1) | 1(1) | 9 |
| p.T1155I | c.3464C>T | 1 (1) | 1 (1) | 9 |
| p.T1155A | c.3463A>G | 1 (1) | 1 (1) | 9 |
| p.R1162T | c.3485G>C | 2 (2) | 2 (2) | 33 |
| p.R1165C | 3493C>T | 4 (4) | 3 (3) | 9 |
| p.R1165L | c.3494G>T | 2 (2) | 1 (1) | 9 |
| p.D1424H | c.4270G>C | 7 (4) | 7 (4) | 9,34 |
| p.D1424N | c.4270G>A | 2 (1) | 2 (1) | 9 |
| p.D1424Y | c.4270G>T | 1 (1) | none | - |
| p.D1447V | c.4340A>T | 5 (2) | 4 (1) | 9 |
| p.E1841K | c.5521G>A | 6 (3) | 6 (3) | 9 |
| p.G1924RfsX21 | c.5770_5779del | 1 (1) | 1 (1) | 9 |
| p.D1925TfsX23 | c.5770delG | 3 (1) | 3 (1) | 9 |
| p.V1930CfsX18 | c.5788delG | 1 (1) | 1 (1) | 9 |
| p.R1933X | c.5797C>T | 14 (8) | 13 (7) | 9 |
| p.D1941MfsX7 | c.5818delG | 5 (2) | 5 (2) | 9 |
| p.E1945X | c.5833G>T | 1 (1) | 1 (1) | 9 |
| 75 (52) | 67 (44) | |||
Abbreviations: Ref. = references.