| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.115604099G>A | CA117606 | TRPS1 | c.1870C>T (p.Arg624Ter) c.1831C>T (p.Arg611Ter) c.1292-49C>T (n.1292-49C>T) c.1142-49C>T (n.1142-49C>T) c.1843C>T (p.Arg615Ter) c.1849C>T (p.Arg617Ter) | ClinVar dbSNP COSMIC |
| 8 | g.115604099G>C | CA4851759 | TRPS1 | c.1870C>G (p.Arg624Gly) c.1831C>G (p.Arg611Gly) c.1292-49C>G (n.1292-49C>G) c.1142-49C>G (n.1142-49C>G) c.1843C>G (p.Arg615Gly) c.1849C>G (p.Arg617Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |