| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101770558T>C | CA284843 | GNPTAB | c.961A>G (p.Ser321Gly) c.880A>G (p.Ser294Gly) c.745A>G (p.Ser249Gly) c.-267A>G (n.-267A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101770558T= | CA2058958033 | GNPTAB | c.961A= (p.Ser321=) c.880A= (p.Ser294=) c.745A= (p.Ser249=) c.-267A= (n.-267A=) | dbSNP |