| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.75764691G>A | CA210615 | TTLL5 | c.1627G>A (p.Glu543Lys) c.154G>A (p.Glu52Lys) n.933G>A c.280G>A (p.Glu94Lys) n.361G>A c.1669G>A (p.Glu557Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75764691G>T | CA210613 | TTLL5 | c.1627G>T (p.Glu543Ter) c.154G>T (p.Glu52Ter) n.933G>T c.280G>T (p.Glu94Ter) n.361G>T c.1669G>T (p.Glu557Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |