| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.228166132A>T | CA345106732 | IBA57 | c.316A>T (p.Thr106Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.228166132A>G | CA38736636 | IBA57 | c.316A>G (p.Thr106Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.228166132A>C | CA345106736 | IBA57 | c.316A>C (p.Thr106Pro) | dbSNP gnomAD v4 |
| 1 | g.228166132A= | CA1225630198 | IBA57 | c.316A= (p.Thr106=) | dbSNP dbSNP |