| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.23048049C>A | CA122642 | THBD | c.1456G>T (p.Asp486Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23048049C= | CA2355680876 | THBD | c.1456G= (p.Asp486=) | dbSNP |
| 20 | g.23048049C>T | CA408405485 | THBD | c.1456G>A (p.Asp486Asn) | dbSNP |
| 20 | g.23048049C>G | CA408405484 | THBD | c.1456G>C (p.Asp486His) | dbSNP |