| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13876789dup | CA3204320 | DNAH5 | c.3291dup (p.Pro1098ThrfsTer11) c.3246dup (p.Pro1083ThrfsTer11) n.3498dup c.3399dup (p.Pro1134ThrfsTer11) c.2304dup (p.Pro769ThrfsTer11) c.1893dup (p.Pro632ThrfsTer11) n.3416dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13876789T= | CA3123612133 | DNAH5 | c.3291A= (p.Leu1097=) c.3246A= (p.Leu1082=) n.3498A= c.3399A= (p.Leu1133=) c.2304A= (p.Leu768=) c.1893A= (p.Leu631=) n.3416A= | dbSNP dbSNP |