Table 2 Mutations and polymorphisms of PKD1 identified in this study
Patient ID | Region | cDNA Change | Amino Acid Change | Type | Clinical Significance |
|---|---|---|---|---|---|
421 | EX44 | c.12014A > G | p.Gln4005Arg | Missense | Uncertain Significance |
48.1 | Ex44 | c.12092 T > A | p.Leu4031X | Stop codon | ​ Definitely Pathogenic |
418.2 | Ex44 | c.12103G > A | p.Val4035Met | Missense | Possibly Damaging |
45.1 | EX44 | c.12133A > G | p.Ile4045Val | Missense | Likely Neutral |
410.2 | EX44 | c.12133A > G | p.Ile4045Val | Missense | Likely Neutral |
47.1 | Ex44 | c.12039C > T | p.Ser4013= | Synonymous | Not Reported |
45.3 | EX45 | c.12276A > G | p.Ala4092= | Synonymous | Likely Neutral |
417.1 | EX45 | c.12276A > G | p.Ala4092= | Synonymous | Likely Neutral |
419.1 | EX45 | c.12276A > G | p.Ala4092= | Synonymous | Likely Neutral |
410.1 | EX45 | c.12276A > G | p.Ala4092= | Synonymous | Likely Neutral |
422 | EX45 | 12217A > G | p.Thr4073Ala | Missense | Likely Neutral |