| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149063022T>C | CA339657 | SH3TC2 | c.1A>G (p.Met1Val) n.37A>G n.41A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149063022T>G | CA129019491 | SH3TC2 | c.1A>C (p.Met1Leu) n.37A>C n.41A>C | dbSNP gnomAD v4 |
| 5 | g.149063022T= | CA1590328150 | SH3TC2 | c.1A= (p.Met1=) n.37A= n.41A= | dbSNP |