| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.6107594G>A | CA115712 | FERMT1 | c.787C>T (p.Gln263Ter) n.1249C>T c.16C>T (p.Gln6Ter) | ClinVar dbSNP |
| 20 | g.6107594G= | CA2347806438 | FERMT1 | c.787C= (p.Gln263=) n.1249C= c.16C= (p.Gln6=) | dbSNP |
| 20 | g.6107594G>T | CA408186795 | FERMT1 | c.787C>A (p.Gln263Lys) n.1249C>A c.16C>A (p.Gln6Lys) | dbSNP gnomAD v4 |