| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.24258646C>A | CA256465 | TGM1 | c.1187G>T (p.Arg396Leu) c.-28-258G>T (n.-28-258G>T) c.260G>T (p.Arg87Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24258646C>T | CA261155 | TGM1 | c.1187G>A (p.Arg396His) c.-28-258G>A (n.-28-258G>A) c.260G>A (p.Arg87His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |