| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.23046776T>G | CA10649419 | THBD | c.*1001A>C (n.*1001A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23046776T>A | CA2580618656 | THBD | c.*1001A>T (n.*1001A>T) | dbSNP gnomAD v4 |
| 20 | g.23046776T>C | CA2580618655 | THBD | c.*1001A>G (n.*1001A>G) | dbSNP |
| 20 | g.23046776T= | CA2355680221 | THBD | c.*1001A= (n.*1001A=) | dbSNP |