| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13840968G>A | CA3203619 | DNAH5 | c.5647C>T (p.Arg1883Ter) c.5602C>T (p.Arg1868Ter) n.5854C>T c.5755C>T (p.Arg1919Ter) c.4660C>T (p.Arg1554Ter) c.844C>T (p.Arg282Ter) c.397C>T (p.Arg133Ter) c.4249C>T (p.Arg1417Ter) n.5772C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13840968G>C | CA113946711 | DNAH5 | c.5647C>G (p.Arg1883Gly) c.5602C>G (p.Arg1868Gly) n.5854C>G c.5755C>G (p.Arg1919Gly) c.4660C>G (p.Arg1554Gly) c.844C>G (p.Arg282Gly) c.397C>G (p.Arg133Gly) c.4249C>G (p.Arg1417Gly) n.5772C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |