| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.24258667C>T | CA256467 | TGM1 | c.1166G>A (p.Arg389His) c.-28-279G>A (n.-28-279G>A) c.239G>A (p.Arg80His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24258667C>G | CA7131155 | TGM1 | c.1166G>C (p.Arg389Pro) c.-28-279G>C (n.-28-279G>C) c.239G>C (p.Arg80Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |