| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13864632C>T | CA3203993 | DNAH5 | c.4361G>A (p.Arg1454Gln) c.4316G>A (p.Arg1439Gln) n.4568G>A c.4469G>A (p.Arg1490Gln) c.3374G>A (p.Arg1125Gln) c.2963G>A (p.Arg988Gln) n.4486G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13864632C= | CA1528474240 | DNAH5 | c.4361G= (p.Arg1454=) c.4316G= (p.Arg1439=) n.4568G= c.4469G= (p.Arg1490=) c.3374G= (p.Arg1125=) c.2963G= (p.Arg988=) n.4486G= | dbSNP |