| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.79941966T>C | CA177964 | MBL1P,SFTPD | c.538A>G (p.Thr180Ala) n.2743A>G n.2664A>G n.333+431T>C c.577A>G (p.Thr193Ala) c.421A>G (p.Thr141Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.79941966T>G | CA377357337 | MBL1P,SFTPD | c.538A>C (p.Thr180Pro) n.2743A>C n.2664A>C n.333+431T>G c.577A>C (p.Thr193Pro) c.421A>C (p.Thr141Pro) | dbSNP |
| 10 | g.79941966T= | CA1922423148 | MBL1P,SFTPD | c.538A= (p.Thr180=) n.2743A= n.2664A= n.333+431T= c.577A= (p.Thr193=) c.421A= (p.Thr141=) | dbSNP dbSNP |