Table 2.
Most common UMOD mutations (mUMOD) with in vitro score and age of ESKD
| mUMOD | In vitro score | Families (n) | Individuals (n) | Median age ESKD | Range of ESKD | Families linked to major variant | Families linked to minor variant | Families with unknown linkage |
|---|---|---|---|---|---|---|---|---|
| p.H177_R185del | 3 | 25 | 173 | 46 | 20–87 | 25 | 0 | 0 |
| p.V93_G97delins AASC |
2 | 11 | 74 | 48 | 27–75 | 10 | 0 | 1 |
| p.R178P | 4 | 9 | 48 | 53 | 39–79 | 8 | 0 | 1 |
| p.C106F | 1 | 11 | 47 | 55 | 35–72 | 11 | 0 | 0 |
| p.C148Y | 4 | 4 | 25 | 44 | 25–66 | 4 | 0 | 0 |
| p.G88D | 1 | 8 | 23 | 65.5 | 55–76 | 7 | 0 | 1 |
| p.P236L | 3 | 4 | 20 | 45 | 43–67 | 4 | 0 | 0 |
| p.C135Y | 4 | 2 | 17 | 41 | 37–47 | 2 | 0 | 0 |
| p.S91del | 2 | 5 | 17 | 50 | 37–66 | 5 | 0 | 0 |
| p.P236R | 4 | 5 | 9 | 40 | 24–50 | 4 | 0 | 1 |
ESKD, end-stage kidney disease.
Range of ESKD is earliest and latest ages of ESKD.