| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41850561C>A | CA2336659142 | DMRTC2 | c.852C>A (p.Gly284=) c.1005C>A (p.Gly335=) n.318C>A c.*370C>A (n.*370C>A) c.861C>A (p.Gly287=) c.483C>A (p.Gly161=) c.1020C>A (p.Gly340=) c.1014C>A (p.Gly338=) c.867C>A (p.Gly289=) | dbSNP |
| 19 | g.41850561C>T | CA308582312 | DMRTC2 | c.852C>T (p.Gly284=) c.1005C>T (p.Gly335=) n.318C>T c.*370C>T (n.*370C>T) c.861C>T (p.Gly287=) c.483C>T (p.Gly161=) c.1020C>T (p.Gly340=) c.1014C>T (p.Gly338=) c.867C>T (p.Gly289=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.41850561C>G | CA2336659143 | DMRTC2 | c.852C>G (p.Gly284=) c.1005C>G (p.Gly335=) n.318C>G c.*370C>G (n.*370C>G) c.861C>G (p.Gly287=) c.483C>G (p.Gly161=) c.1020C>G (p.Gly340=) c.1014C>G (p.Gly338=) c.867C>G (p.Gly289=) | dbSNP |