| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31598631T>C | CA123104 | TTR | c.400T>C (p.Tyr134His) c.304T>C (p.Tyr102His) c.514T>C (p.Tyr172His) c.376T>C (p.Tyr126His) | ClinVar dbSNP |
| 18 | g.31598631T>A | CA402158234 | TTR | c.400T>A (p.Tyr134Asn) c.304T>A (p.Tyr102Asn) c.514T>A (p.Tyr172Asn) c.376T>A (p.Tyr126Asn) | ClinVar dbSNP |
| 18 | g.31598631T= | CA2293889361 | TTR | c.400T= (p.Tyr134=) c.304T= (p.Tyr102=) c.514T= (p.Tyr172=) c.376T= (p.Tyr126=) | dbSNP |