| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.319825C>G | CA351420525 | CHL1 | c.49C>G (p.Leu17Val) c.*387C>G (n.*387C>G) n.22C>G | dbSNP |
| 3 | g.319825C>T | CA2224186 | CHL1 | c.49C>T (p.Leu17Phe) c.*387C>T (n.*387C>T) n.22C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.319825C= | CA1340136184 | CHL1 | c.49C= (p.Leu17=) c.*387C= (n.*387C=) n.22C= | dbSNP |