Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.27309958G>T | CA342983 | MPV17 | c.485C>A (p.Ala162Asp) c.317C>A (p.Ala106Asp) c.432C>A (p.Cys144Ter) c.*64C>A (n.*64C>A) c.296C>A (p.Ala99Asp) c.530C>A (p.Ala177Asp) c.*286C>A (n.*286C>A) c.*150C>A (n.*150C>A) c.319C>A n.158C>A n.788C>A c.326C>A (p.Ala109Asp) c.437C>A (p.Ala146Asp) c.467C>A (p.Ala156Asp) | dbSNP |
2 | g.27309958G>C | CA346205425 | MPV17 | c.485C>G (p.Ala162Gly) c.317C>G (p.Ala106Gly) c.432C>G (p.Cys144Trp) c.*64C>G (n.*64C>G) c.296C>G (p.Ala99Gly) c.530C>G (p.Ala177Gly) c.*286C>G (n.*286C>G) c.*150C>G (n.*150C>G) c.319C>G n.158C>G n.788C>G c.326C>G (p.Ala109Gly) c.437C>G (p.Ala146Gly) c.467C>G (p.Ala156Gly) | dbSNP gnomAD v3 gnomAD v4 |