| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.43260151C>A | CA117921 | TGM5 | c.337G>T (p.Gly113Cys) c.190+249G>T (n.190+249G>T) c.334G>T (p.Gly112Cys) c.187+249G>T (n.187+249G>T) c.340G>T (p.Gly114Cys) n.511G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43260151C= | CA2173105900 | TGM5 | c.337G= (p.Gly113=) c.190+249G= (n.190+249G=) c.334G= (p.Gly112=) c.187+249G= (n.187+249G=) c.340G= (p.Gly114=) n.511G= | dbSNP |