| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.24255457C>T | CA256472 | TGM1 | c.1552G>A (p.Val518Met) c.226G>A (p.Val76Met) c.625G>A (p.Val209Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24255457C>A | CA389254315 | TGM1 | c.1552G>T (p.Val518Leu) c.226G>T (p.Val76Leu) c.625G>T (p.Val209Leu) | dbSNP gnomAD v2 gnomAD v4 |