| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.46907878C>G | CA46626204 | MCFD2 | c.241G>C (p.Asp81His) c.85G>C (p.Asp29His) c.142G>C (p.Asp48His) c.184G>C (p.Asp62His) n.203-2284G>C n.316G>C n.390G>C n.68-2284G>C | dbSNP |
| 2 | g.46907878C>A | CA115804 | MCFD2 | c.241G>T (p.Asp81Tyr) c.85G>T (p.Asp29Tyr) c.142G>T (p.Asp48Tyr) c.184G>T (p.Asp62Tyr) n.203-2284G>T n.316G>T n.390G>T n.68-2284G>T | ClinVar dbSNP |
| 2 | g.46907878C= | CA2495554980 | MCFD2 | c.241G= (p.Asp81=) c.85G= (p.Asp29=) c.142G= (p.Asp48=) c.184G= (p.Asp62=) n.203-2284G= n.316G= n.390G= n.68-2284G= | dbSNP |