| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48487396C>T | CA014015 | FBN1 | c.3379G>A (p.Gly1127Ser) n.2053G>A c.637-12746G>A (n.637-12746G>A) | ClinVar dbSNP |
| 15 | g.48487396C>G | CA392326589 | FBN1 | c.3379G>C (p.Gly1127Arg) n.2053G>C c.637-12746G>C (n.637-12746G>C) | dbSNP |
| 15 | g.48487396C= | CA2175514908 | FBN1 | c.3379G= (p.Gly1127=) n.2053G= c.637-12746G= (n.637-12746G=) | dbSNP |