| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13841058T>A | CA348039 | DNAH5 | c.5557A>T (p.Lys1853Ter) c.5512A>T (p.Lys1838Ter) n.5764A>T c.5665A>T (p.Lys1889Ter) c.4570A>T (p.Lys1524Ter) c.754A>T (p.Lys252Ter) c.307A>T (p.Lys103Ter) c.4159A>T (p.Lys1387Ter) n.5682A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13841058T= | CA1528463329 | DNAH5 | c.5557A= (p.Lys1853=) c.5512A= (p.Lys1838=) n.5764A= c.5665A= (p.Lys1889=) c.4570A= (p.Lys1524=) c.754A= (p.Lys252=) c.307A= (p.Lys103=) c.4159A= (p.Lys1387=) n.5682A= | dbSNP |