| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.42384007dup | CA261817 | TMPRSS3 | c.579dup (p.Cys194MetfsTer17) c.573dup (p.Cys192MetfsTer17) n.447dup n.866dup c.198dup (p.Cys67MetfsTer17) n.1535dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.42384007T= | CA3241877854 | TMPRSS3 | c.579A= (p.Gly193=) c.573A= (p.Gly191=) n.447A= n.866A= c.198A= (p.Gly66=) n.1535A= | dbSNP |