| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101770579G>A | CA343418 | GNPTAB | c.940C>T (p.Gln314Ter) c.859C>T (p.Gln287Ter) c.724C>T (p.Gln242Ter) c.-288C>T (n.-288C>T) | ClinVar dbSNP |
| 12 | g.101770579G= | CA2058958040 | GNPTAB | c.940C= (p.Gln314=) c.859C= (p.Gln287=) c.724C= (p.Gln242=) c.-288C= (n.-288C=) | dbSNP |