| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.23045859C>T | CA10643557 | THBD | c.*1918G>A (n.*1918G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23045859C>G | CA2355679825 | THBD | c.*1918G>C (n.*1918G>C) | dbSNP |
| 20 | g.23045859C= | CA2355679824 | THBD | c.*1918G= (n.*1918G=) | dbSNP |