| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13701323dup | CA3201359 | DNAH5 | n.791dup c.13458dup (p.Asn4487Ter) c.13413dup (p.Asn4472Ter) c.13566dup (p.Asn4523Ter) c.13146dup (p.Asn4383Ter) c.12471dup (p.Asn4158Ter) c.8655dup (p.Asn2886Ter) c.8208dup (p.Asn2737Ter) c.7545dup (p.Asn2516Ter) c.12060dup (p.Asn4021Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.13701323del | CA443250539 | DNAH5 | n.791del c.13458del (p.Phe4486LeufsTer7) c.13413del (p.Phe4471LeufsTer7) c.13566del (p.Phe4522LeufsTer7) c.13146del (p.Phe4382LeufsTer7) c.12471del (p.Phe4157LeufsTer7) c.8655del (p.Phe2885LeufsTer7) c.8208del (p.Phe2736LeufsTer7) c.7545del (p.Phe2515LeufsTer7) c.12060del (p.Phe4020LeufsTer7) | ClinVar dbSNP gnomAD v4 COSMIC |