| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101753409G>C | CA386292237 | GNPTAB | c.3565C>G (p.Arg1189Gly) c.463C>G (n.463C>G) c.3484C>G (p.Arg1162Gly) c.3349C>G (p.Arg1117Gly) c.2338C>G (p.Arg780Gly) | dbSNP gnomAD v4 |
| 12 | g.101753409G>A | CA340009 | GNPTAB | c.3565C>T (p.Arg1189Ter) c.463C>T (n.463C>T) c.3484C>T (p.Arg1162Ter) c.3349C>T (p.Arg1117Ter) c.2338C>T (p.Arg780Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101753409G= | CA2058950547 | GNPTAB | c.3565C= (p.Arg1189=) c.463C= (n.463C=) c.3484C= (p.Arg1162=) c.3349C= (p.Arg1117=) c.2338C= (p.Arg780=) | dbSNP |