| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48485451C>T | CA392324546 | FBN1 | c.3635G>A (p.Cys1212Tyr) n.2309G>A c.637-10801G>A (n.637-10801G>A) | ClinVar dbSNP |
| 15 | g.48485451C>G | CA16606967 | FBN1 | c.3635G>C (p.Cys1212Ser) n.2309G>C c.637-10801G>C (n.637-10801G>C) | ClinVar dbSNP |
| 15 | g.48485451C>A | CA392324544 | FBN1 | c.3635G>T (p.Cys1212Phe) n.2309G>T c.637-10801G>T (n.637-10801G>T) | dbSNP |
| 15 | g.48485451C= | CA2175511932 | FBN1 | c.3635G= (p.Cys1212=) n.2309G= c.637-10801G= (n.637-10801G=) | dbSNP |