| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13814801C>A | CA113925389 | DNAH5 | c.7034G>T (p.Trp2345Leu) c.6989G>T (p.Trp2330Leu) n.7241G>T c.7142G>T (p.Trp2381Leu) c.6047G>T (p.Trp2016Leu) c.2231G>T (p.Trp744Leu) c.1784G>T (p.Trp595Leu) c.1121G>T (p.Trp374Leu) c.5636G>T (p.Trp1879Leu) n.7159G>T | dbSNP |
| 5 | g.13814801C>T | CA10582397 | DNAH5 | c.7034G>A (p.Trp2345Ter) c.6989G>A (p.Trp2330Ter) n.7241G>A c.7142G>A (p.Trp2381Ter) c.6047G>A (p.Trp2016Ter) c.2231G>A (p.Trp744Ter) c.1784G>A (p.Trp595Ter) c.1121G>A (p.Trp374Ter) c.5636G>A (p.Trp1879Ter) n.7159G>A | ClinVar dbSNP gnomAD v4 |
| 5 | g.13814801C= | CA1528451728 | DNAH5 | c.7034G= (p.Trp2345=) c.6989G= (p.Trp2330=) n.7241G= c.7142G= (p.Trp2381=) c.6047G= (p.Trp2016=) c.2231G= (p.Trp744=) c.1784G= (p.Trp595=) c.1121G= (p.Trp374=) c.5636G= (p.Trp1879=) n.7159G= | dbSNP |