| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13721014G>A | CA16611765 | DNAH5 | c.12265C>T (p.Gln4089Ter) c.12220C>T (p.Gln4074Ter) c.12373C>T (p.Gln4125Ter) c.11278C>T (p.Gln3760Ter) c.7462C>T (p.Gln2488Ter) c.7015C>T (p.Gln2339Ter) c.6352C>T (p.Gln2118Ter) c.10867C>T (p.Gln3623Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13721014G>T | CA359213073 | DNAH5 | c.12265C>A (p.Gln4089Lys) c.12220C>A (p.Gln4074Lys) c.12373C>A (p.Gln4125Lys) c.11278C>A (p.Gln3760Lys) c.7462C>A (p.Gln2488Lys) c.7015C>A (p.Gln2339Lys) c.6352C>A (p.Gln2118Lys) c.10867C>A (p.Gln3623Lys) | dbSNP gnomAD v4 |
| 5 | g.13721014G= | CA1528408675 | DNAH5 | c.12265C= (p.Gln4089=) c.12220C= (p.Gln4074=) c.12373C= (p.Gln4125=) c.11278C= (p.Gln3760=) c.7462C= (p.Gln2488=) c.7015C= (p.Gln2339=) c.6352C= (p.Gln2118=) c.10867C= (p.Gln3623=) | dbSNP |