| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48487155C>T | CA014215 | FBN1 | c.3509G>A (p.Arg1170His) n.2183G>A c.637-12505G>A (n.637-12505G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48487155C>G | CA392325198 | FBN1 | c.3509G>C (p.Arg1170Pro) n.2183G>C c.637-12505G>C (n.637-12505G>C) | dbSNP |
| 15 | g.48487155C= | CA2175514078 | FBN1 | c.3509G= (p.Arg1170=) n.2183G= c.637-12505G= (n.637-12505G=) | dbSNP |