| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48497265C>T | CA16614665 | FBN1 | c.2293+1G>A (n.2293+1G>A) n.967+1G>A c.637-22615G>A (n.637-22615G>A) | ClinVar dbSNP |
| 15 | g.48497265C>G | CA392335574 | FBN1 | c.2293+1G>C (n.2293+1G>C) n.967+1G>C c.637-22615G>C (n.637-22615G>C) | ClinVar dbSNP |
| 15 | g.48497265C= | CA2175521310 | FBN1 | c.2293+1G= (n.2293+1G=) n.967+1G= c.637-22615G= (n.637-22615G=) | dbSNP |