| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101761615G>A | CA356543 | GNPTAB | c.2864C>T (p.Ala955Val) c.2783C>T (p.Ala928Val) c.2648C>T (p.Ala883Val) c.1637C>T (p.Ala546Val) | ClinVar dbSNP gnomAD v4 |
| 12 | g.101761615G= | CA2058953055 | GNPTAB | c.2864C= (p.Ala955=) c.2783C= (p.Ala928=) c.2648C= (p.Ala883=) c.1637C= (p.Ala546=) | dbSNP |