| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48436961C>T | CA016504 | FBN1 | c.6496G>A (p.Asp2166Asn) n.105G>A c.1495G>A (p.Asp499Asn) c.*2259G>A (n.*2259G>A) c.1803G>A | ClinVar dbSNP |
| 15 | g.48436961C>G | CA016512 | FBN1 | c.6496G>C (p.Asp2166His) n.105G>C c.1495G>C (p.Asp499His) c.*2259G>C (n.*2259G>C) c.1803G>C | ClinVar dbSNP |
| 15 | g.48436961C>A | CA016518 | FBN1 | c.6496G>T (p.Asp2166Tyr) n.105G>T c.1495G>T (p.Asp499Tyr) c.*2259G>T (n.*2259G>T) c.1803G>T | ClinVar dbSNP |
| 15 | g.48436961C= | CA2175502078 | FBN1 | c.6496G= (p.Asp2166=) n.105G= c.1495G= (p.Asp499=) c.*2259G= (n.*2259G=) c.1803G= | dbSNP |