Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.197133380G>C | CA1310482 | ASPM | c.2389C>G (p.Arg797Gly) n.445C>G c.139C>G (p.Arg47Gly) c.561+10311C>G (n.561+10311C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197133380G>T | CA422803496 | ASPM | c.2389C>A (p.Arg797=) n.445C>A c.139C>A (p.Arg47=) c.561+10311C>A (n.561+10311C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197133380G>A | CA340334 | ASPM | c.2389C>T (p.Arg797Ter) n.445C>T c.139C>T (p.Arg47Ter) c.561+10311C>T (n.561+10311C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |