| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.24259744C>A | CA261153 | TGM1 | c.944G>T (p.Arg315Leu) c.-28-1356G>T (n.-28-1356G>T) c.17G>T (p.Arg6Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24259744C>T | CA261152 | TGM1 | c.944G>A (p.Arg315His) c.-28-1356G>A (n.-28-1356G>A) c.17G>A (p.Arg6His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24259744C>G | CA389268057 | TGM1 | c.944G>C (p.Arg315Pro) c.-28-1356G>C (n.-28-1356G>C) c.17G>C (p.Arg6Pro) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24259744C= | CA2123854882 | TGM1 | c.944G= (p.Arg315=) c.-28-1356G= (n.-28-1356G=) c.17G= (p.Arg6=) | dbSNP |