| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36222887A>G | CA16041312 | CLTA,GNE | c.1616T>C (p.Leu539Ser) c.1346T>C (p.Leu449Ser) c.1523T>C (p.Leu508Ser) c.1411+486T>C (n.1411+486T>C) c.485+18708A>G (n.485+18708A>G) c.1193T>C (p.Leu398Ser) c.1508T>C (p.Leu503Ser) c.1463T>C (p.Leu488Ser) c.1370T>C (p.Leu457Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.36222887A= | CA1846333545 | CLTA,GNE | c.1616T= (p.Leu539=) c.1346T= (p.Leu449=) c.1523T= (p.Leu508=) c.1411+486T= (n.1411+486T=) c.485+18708A= (n.485+18708A=) c.1193T= (p.Leu398=) c.1508T= (p.Leu503=) c.1463T= (p.Leu488=) c.1370T= (p.Leu457=) | dbSNP |