| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.132941493C>T | CA4884387 | TG | c.5184C>T (p.Cys1728=) c.599+5629C>T c.1839C>T c.5041+5629C>T (n.5041+5629C>T) c.5013C>T (p.Cys1671=) c.4965C>T (p.Cys1655=) c.4923C>T (p.Cys1641=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132941493C>A | CA210826 | TG | c.5184C>A (p.Cys1728Ter) c.599+5629C>A c.1839C>A c.5041+5629C>A (n.5041+5629C>A) c.5013C>A (p.Cys1671Ter) c.4965C>A (p.Cys1655Ter) c.4923C>A (p.Cys1641Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |