| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48623687T>A | CA2175579254 | FBN1 | c.165-10595A>T (n.165-10595A>T) | dbSNP |
| 15 | g.48623687T>C | CA14131430 | FBN1 | c.165-10595A>G (n.165-10595A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48623687T>A | CA2175579254 | FBN1 | c.165-10595A>T (n.165-10595A>T) | dbSNP |
| 15 | g.48623687T>C | CA14131430 | FBN1 | c.165-10595A>G (n.165-10595A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |