| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48505139C>A | CA392339193 | FBN1 | c.1846G>T (p.Glu616Ter) n.520G>T c.637-30489G>T (n.637-30489G>T) | ClinVar dbSNP |
| 15 | g.48505139C>T | CA012592 | FBN1 | c.1846G>A (p.Glu616Lys) n.520G>A c.637-30489G>A (n.637-30489G>A) | ClinVar dbSNP |
| 15 | g.48505139C= | CA2175527487 | FBN1 | c.1846G= (p.Glu616=) n.520G= c.637-30489G= (n.637-30489G=) | dbSNP |
| 15 | g.48505139C>G | CA392339194 | FBN1 | c.1846G>C (p.Glu616Gln) n.520G>C c.637-30489G>C (n.637-30489G>C) | ClinVar dbSNP |