| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.79938062A>G | CA214548 | MBL1P,SFTPD | c.918T>C (p.Ala306=) n.3123T>C n.3044T>C n.234+1406A>G c.801T>C (p.Ala267=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.79938062A= | CA1922419971 | MBL1P,SFTPD | c.918T= (p.Ala306=) n.3123T= n.3044T= n.234+1406A= c.801T= (p.Ala267=) | dbSNP |