| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.103173242C>A | CA10582778 | DYNC2H1 | c.5495C>A (p.Ser1832Ter) c.*3040C>A (n.*3040C>A) c.2205+38823C>A (n.2205+38823C>A) c.4877C>A (p.Ser1626Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.103173242C>T | CA6253774 | DYNC2H1 | c.5495C>T (p.Ser1832Leu) c.*3040C>T (n.*3040C>T) c.2205+38823C>T (n.2205+38823C>T) c.4877C>T (p.Ser1626Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |