| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101760106G>A | CA386294817 | GNPTAB | c.3173C>T (p.Ser1058Leu) n.39C>T c.3092C>T (p.Ser1031Leu) c.2957C>T (p.Ser986Leu) c.1946C>T (p.Ser649Leu) | dbSNP |
| 12 | g.101760106G>C | CA340011 | GNPTAB | c.3173C>G (p.Ser1058Ter) n.39C>G c.3092C>G (p.Ser1031Ter) c.2957C>G (p.Ser986Ter) c.1946C>G (p.Ser649Ter) | ClinVar dbSNP |