| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.40078630A>T | CA254581 | PPT1 | c.653T>A (p.Leu218Gln) c.656T>A (p.Leu219Gln) c.347T>A (p.Leu116Gln) c.425T>A (p.Leu142Gln) c.-2T>A (n.-2T>A) c.*279T>A (n.*279T>A) c.634T>A n.893T>A c.149-1717T>A c.743T>A (p.Leu248Gln) c.*508T>A (n.*508T>A) c.*85T>A (n.*85T>A) n.53T>A c.341T>A (p.Leu114Gln) c.431T>A (p.Leu144Gln) | ClinVar dbSNP |
| 1 | g.40078630A= | CA1141580713 | PPT1 | c.653T= (p.Leu218=) c.656T= (p.Leu219=) c.347T= (p.Leu116=) c.425T= (p.Leu142=) c.-2T= (n.-2T=) c.*279T= (n.*279T=) c.634T= n.893T= c.149-1717T= c.743T= (p.Leu248=) c.*508T= (n.*508T=) c.*85T= (n.*85T=) n.53T= c.341T= (p.Leu114=) c.431T= (p.Leu144=) | dbSNP |