| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36236946G>A | CA16041320 | CLTA,GNE | c.748C>T (p.Gln250Ter) c.478C>T (p.Gln160Ter) c.655C>T (p.Gln219Ter) c.486-26252G>A (n.486-26252G>A) c.440-2814C>T (n.440-2814C>T) c.640C>T (p.Gln214Ter) c.710-2814C>T (n.710-2814C>T) c.617-2814C>T (n.617-2814C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.36236946G>T | CA373415405 | CLTA,GNE | c.748C>A (p.Gln250Lys) c.478C>A (p.Gln160Lys) c.655C>A (p.Gln219Lys) c.486-26252G>T (n.486-26252G>T) c.440-2814C>A (n.440-2814C>A) c.640C>A (p.Gln214Lys) c.710-2814C>A (n.710-2814C>A) c.617-2814C>A (n.617-2814C>A) | dbSNP |
| 9 | g.36236946G= | CA1846360692 | CLTA,GNE | c.748C= (p.Gln250=) c.478C= (p.Gln160=) c.655C= (p.Gln219=) c.486-26252G= (n.486-26252G=) c.440-2814C= (n.440-2814C=) c.640C= (p.Gln214=) c.710-2814C= (n.710-2814C=) c.617-2814C= (n.617-2814C=) | dbSNP |