| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13865675G>A | CA346933 | DNAH5 | c.4348C>T (p.Gln1450Ter) c.4303C>T (p.Gln1435Ter) n.4555C>T c.4456C>T (p.Gln1486Ter) c.3361C>T (p.Gln1121Ter) c.2950C>T (p.Gln984Ter) n.4473C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13865675G>T | CA359224499 | DNAH5 | c.4348C>A (p.Gln1450Lys) c.4303C>A (p.Gln1435Lys) n.4555C>A c.4456C>A (p.Gln1486Lys) c.3361C>A (p.Gln1121Lys) c.2950C>A (p.Gln984Lys) n.4473C>A | dbSNP gnomAD v4 |
| 5 | g.13865675G= | CA1528475400 | DNAH5 | c.4348C= (p.Gln1450=) c.4303C= (p.Gln1435=) n.4555C= c.4456C= (p.Gln1486=) c.3361C= (p.Gln1121=) c.2950C= (p.Gln984=) n.4473C= | dbSNP |