| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101761201G>A | CA343387 | GNPTAB | c.3061C>T (p.Gln1021Ter) c.2980C>T (p.Gln994Ter) c.2845C>T (p.Gln949Ter) c.1834C>T (p.Gln612Ter) | ClinVar dbSNP |
| 12 | g.101761201G= | CA2058952448 | GNPTAB | c.3061C= (p.Gln1021=) c.2980C= (p.Gln994=) c.2845C= (p.Gln949=) c.1834C= (p.Gln612=) | dbSNP |