Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.103189761G>A | CA382253887 | DYNC2H1 | c.7382G>A (p.Gly2461Asp) c.*4927G>A (n.*4927G>A) c.2205+55342G>A (n.2205+55342G>A) c.6764G>A (p.Gly2255Asp) | dbSNP |
11 | g.103189761G>T | CA210516 | DYNC2H1 | c.7382G>T (p.Gly2461Val) c.*4927G>T (n.*4927G>T) c.2205+55342G>T (n.2205+55342G>T) c.6764G>T (p.Gly2255Val) | ClinVar dbSNP gnomAD v4 |