| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101753435G>A | CA16609423 | GNPTAB | c.3539C>T (p.Ser1180Phe) c.437C>T (n.437C>T) c.3458C>T (p.Ser1153Phe) c.3323C>T (p.Ser1108Phe) c.2312C>T (p.Ser771Phe) | ClinVar dbSNP |
| 12 | g.101753435G= | CA2058950559 | GNPTAB | c.3539C= (p.Ser1180=) c.437C= (n.437C=) c.3458C= (p.Ser1153=) c.3323C= (p.Ser1108=) c.2312C= (p.Ser771=) | dbSNP |