| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13830675G>A | CA3203516 | DNAH5 | n.914C>T c.5983C>T (p.Arg1995Ter) c.5938C>T (p.Arg1980Ter) n.6190C>T c.6091C>T (p.Arg2031Ter) c.4996C>T (p.Arg1666Ter) c.1180C>T (p.Arg394Ter) c.733C>T (p.Arg245Ter) c.70C>T (p.Arg24Ter) c.4585C>T (p.Arg1529Ter) n.6108C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13830675G= | CA1528458777 | DNAH5 | n.914C= c.5983C= (p.Arg1995=) c.5938C= (p.Arg1980=) n.6190C= c.6091C= (p.Arg2031=) c.4996C= (p.Arg1666=) c.1180C= (p.Arg394=) c.733C= (p.Arg245=) c.70C= (p.Arg24=) c.4585C= (p.Arg1529=) n.6108C= | dbSNP |
| 5 | g.13830675G>C | CA359202649 | DNAH5 | n.914C>G c.5983C>G (p.Arg1995Gly) c.5938C>G (p.Arg1980Gly) n.6190C>G c.6091C>G (p.Arg2031Gly) c.4996C>G (p.Arg1666Gly) c.1180C>G (p.Arg394Gly) c.733C>G (p.Arg245Gly) c.70C>G (p.Arg24Gly) c.4585C>G (p.Arg1529Gly) n.6108C>G | dbSNP gnomAD v4 |