| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13829527C>A | CA16618118 | DNAH5 | n.1358G>T c.6427G>T (p.Glu2143Ter) c.6382G>T (p.Glu2128Ter) n.6634G>T c.6535G>T (p.Glu2179Ter) c.5440G>T (p.Glu1814Ter) c.1624G>T (p.Glu542Ter) c.1177G>T (p.Glu393Ter) c.514G>T (p.Glu172Ter) c.5029G>T (p.Glu1677Ter) n.6552G>T | ClinVar dbSNP gnomAD v4 |
| 5 | g.13829527C= | CA1528458061 | DNAH5 | n.1358G= c.6427G= (p.Glu2143=) c.6382G= (p.Glu2128=) n.6634G= c.6535G= (p.Glu2179=) c.5440G= (p.Glu1814=) c.1624G= (p.Glu542=) c.1177G= (p.Glu393=) c.514G= (p.Glu172=) c.5029G= (p.Glu1677=) n.6552G= | dbSNP |