| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.43253550del | CA170982 | TGM5 | c.640del (p.Leu214CysfsTer15) n.109del c.394del (p.Leu132CysfsTer15) c.637del (p.Leu213CysfsTer15) c.391del (p.Leu131CysfsTer15) c.643del (p.Leu215CysfsTer15) n.814del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.43253550G= | CA2173102964 | TGM5 | c.640C= (p.Leu214=) n.109C= c.394C= (p.Leu132=) c.637C= (p.Leu213=) c.391C= (p.Leu131=) c.643C= (p.Leu215=) n.814C= | dbSNP dbSNP |