| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.6085276G>A | CA9758144 | FERMT1 | c.1383C>T (p.Tyr461=) n.343C>T c.612C>T (p.Tyr204=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 20 | g.6085276G>T | CA357160 | FERMT1 | c.1383C>A (p.Tyr461Ter) n.343C>A c.612C>A (p.Tyr204Ter) | ClinVar dbSNP gnomAD v4 |
| 20 | g.6085276G= | CA2347796900 | FERMT1 | c.1383C= (p.Tyr461=) n.343C= c.612C= (p.Tyr204=) | dbSNP |