| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.128636991G>C | CA200421123 | DYNC2I2 | c.472C>G (p.Gln158Glu) c.391-553C>G (n.391-553C>G) n.391-553C>G c.445C>G (p.Gln149Glu) n.38C>G | dbSNP gnomAD v4 |
| 9 | g.128636991G>A | CA210605 | DYNC2I2 | c.472C>T (p.Gln158Ter) c.391-553C>T (n.391-553C>T) n.391-553C>T c.445C>T (p.Gln149Ter) n.38C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |