| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.85666618G>A | CA177942 | SFTPB | c.392C>T (p.Thr131Ile) c.428C>T (p.Thr143Ile) c.381C>T n.398C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.85666618G>C | CA347490919 | SFTPB | c.392C>G (p.Thr131Ser) c.428C>G (p.Thr143Ser) c.381C>G n.398C>G | dbSNP gnomAD v4 |
| 2 | g.85666618G= | CA1266878759 | SFTPB | c.392C= (p.Thr131=) c.428C= (p.Thr143=) c.381C= n.398C= | dbSNP |