| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13841895G>A | CA348934 | DNAH5 | c.5281C>T (p.Arg1761Ter) c.5236C>T (p.Arg1746Ter) n.5488C>T c.5389C>T (p.Arg1797Ter) c.4294C>T (p.Arg1432Ter) c.478C>T (p.Arg160Ter) c.31C>T (p.Arg11Ter) c.3883C>T (p.Arg1295Ter) n.5406C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13841895G>C | CA3203710 | DNAH5 | c.5281C>G (p.Arg1761Gly) c.5236C>G (p.Arg1746Gly) n.5488C>G c.5389C>G (p.Arg1797Gly) c.4294C>G (p.Arg1432Gly) c.478C>G (p.Arg160Gly) c.31C>G (p.Arg11Gly) c.3883C>G (p.Arg1295Gly) n.5406C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13841895G>T | CA443257007 | DNAH5 | c.5281C>A (p.Arg1761=) c.5236C>A (p.Arg1746=) n.5488C>A c.5389C>A (p.Arg1797=) c.4294C>A (p.Arg1432=) c.478C>A (p.Arg160=) c.31C>A (p.Arg11=) c.3883C>A (p.Arg1295=) n.5406C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |