| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48608389T>C | CA16505541 | FBN1 | c.346+2339A>G (n.346+2339A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48608389T= | CA2175572516 | FBN1 | c.346+2339A= (n.346+2339A=) | dbSNP |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48608389T>C | CA16505541 | FBN1 | c.346+2339A>G (n.346+2339A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48608389T= | CA2175572516 | FBN1 | c.346+2339A= (n.346+2339A=) | dbSNP |