From: New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease
Family | Exon/Intron | Nucleotide change | Aminoacid change/ Predicted effect | Reference |
---|---|---|---|---|
HD 53 | 34 | c.10462 C>T | p.Q3488X | Current paper |
HD 15 | IVS36 | c.10821+1G>C | probably splice defect | Current paper |
340 | 37 | c.10850 T>C | p.L3617P (Fig. 2) | Current paper |
173 | 38 | c.11078 C>T | p.S3693L (Fig. 2) | Current paper |
HD 15 | 38 | c.11080 T>C | p.C3694R (Fig. 2) | Current paper |
329 | 39 | c.11258 G>A | p.R3753Q | [19] |
HD 2 | 40 | c.11340_11345 delTTACGA | p.Y3781_D3782del (Fig. 3a) | Current paper |
HD 12 | 40 | c.11345dup8 | p.D3782EfsX46 (Fig. 3b) | Current paper |
HD 23 | 41 | c.11417 G>A | p.W3806X | Current paper |
HD 41 | 42 | c.11623_11645del22 | p.A3875PfsX62 | Current paper |
256 | 43 | c.11752 G>T | p.E3918X (Fig. 1) | Current paper |
HD 10 | 44 | c.12031 C>T | p.Q4011X | [29] |
323 | 44 | c.12056 T>G | p.L4019X | Current paper |
281 | 44 | c.12061 C>T | p.R4021X | [27] |
HD 31 | 44 | c.12061 C>T | p.R4021X | [27] |
387 | 44 | c.12124 C>T | p.Q4042X | [27] |
237 | 46 | c.12648 A>C | p.Q4216H (Fig. 2) | Current paper |
HD 38 | 46 | c.12683 G>C | p.R4228P (Fig. 2) | Current paper |
HD 1 | 46 | c.12691 C>T | p.Q4231X | Current paper |
HD 40 | 46 | c.12724 C>T | p.Q4242X | Current paper |