Table 5.
Segregation of likely pathogenic missense and small in-frame indel mutations of PKD1 with polycystic kidney disease in affected families
| Amino acid change | Nucleotide change | Family | Number of affected/healthy family members |
|---|---|---|---|
| p.Cys522Arg |
c.1564 T > C |
338 |
5/2 |
| p.Gly1999Ser |
c.5995G > A |
301 |
3/2 |
| p.Asn2044Asp |
c.6130A > G |
315 |
6/4 |
| p.Cys2495Tyr |
c.7484G > A |
112 |
3/3 |
| p.Leu2619Arg |
c.7856 T > G |
357 |
2/3 |
| p.Glu2771Lys |
c.8311G > A |
336 |
2/1 |
| 389 |
6/5 |
||
| p.Gly3651Ser |
c.10951G > A |
330 |
2/3 |
| p.Arg3750Gly |
c.11248C > G |
419 |
2/2 |
| p.Glu3660_Ala3661delinsAsp |
c.10980_10982delAGC |
297 |
2/4 |
| p.Leu3998_Leu3999insPheLeuLeu |
c.11993_11994dup9 |
161 |
3/3 |
| p.Lys4147del | c.12439_12441delAAG | 454 | 3/2 |