| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.103165911C>T | CA16042810 | DYNC2H1 | c.4625C>T (p.Ala1542Val) c.*2170C>T (n.*2170C>T) c.2205+31492C>T (n.2205+31492C>T) c.4007C>T (p.Ala1336Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103165911C>A | CA382239331 | DYNC2H1 | c.4625C>A (p.Ala1542Glu) c.*2170C>A (n.*2170C>A) c.2205+31492C>A (n.2205+31492C>A) c.4007C>A (p.Ala1336Glu) | dbSNP gnomAD v4 |
| 11 | g.103165911C= | CA1996410743 | DYNC2H1 | c.4625C= (p.Ala1542=) c.*2170C= (n.*2170C=) c.2205+31492C= (n.2205+31492C=) c.4007C= (p.Ala1336=) | dbSNP |