| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13841112G>A | CA3203650 | DNAH5 | c.5503C>T (p.Gln1835Ter) c.5458C>T (p.Gln1820Ter) n.5710C>T c.5611C>T (p.Gln1871Ter) c.4516C>T (p.Gln1506Ter) c.700C>T (p.Gln234Ter) c.253C>T (p.Gln85Ter) c.4105C>T (p.Gln1369Ter) n.5628C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13841112G= | CA1528463352 | DNAH5 | c.5503C= (p.Gln1835=) c.5458C= (p.Gln1820=) n.5710C= c.5611C= (p.Gln1871=) c.4516C= (p.Gln1506=) c.700C= (p.Gln234=) c.253C= (p.Gln85=) c.4105C= (p.Gln1369=) n.5628C= | dbSNP |