| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.103245374G>T | CA210503 | DYNC2H1 | c.10063G>T (p.Gly3355Ter) c.10042G>T (p.Gly3348Ter) c.2205+110955G>T (n.2205+110955G>T) c.10021G>T (p.Gly3341Ter) c.9424G>T (p.Gly3142Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.103245374G>A | CA382246181 | DYNC2H1 | c.10063G>A (p.Gly3355Arg) c.10042G>A (p.Gly3348Arg) c.2205+110955G>A (n.2205+110955G>A) c.10021G>A (p.Gly3341Arg) c.9424G>A (p.Gly3142Arg) | dbSNP gnomAD v2 gnomAD v4 |