| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101770429G>A | CA343335 | GNPTAB | c.1090C>T (p.Arg364Ter) c.1009C>T (p.Arg337Ter) c.874C>T (p.Arg292Ter) c.-138C>T (n.-138C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101770429G>C | CA386302978 | GNPTAB | c.1090C>G (p.Arg364Gly) c.1009C>G (p.Arg337Gly) c.874C>G (p.Arg292Gly) c.-138C>G (n.-138C>G) | dbSNP gnomAD v4 |
| 12 | g.101770429G= | CA2058957980 | GNPTAB | c.1090C= (p.Arg364=) c.1009C= (p.Arg337=) c.874C= (p.Arg292=) c.-138C= (n.-138C=) | dbSNP |