| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197143675G>T | CA1310849 | ASPM | c.577C>A (p.Gln193Lys) n.794C>A c.561+16C>A (n.561+16C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197143675G>C | CA344020124 | ASPM | c.577C>G (p.Gln193Glu) n.794C>G c.561+16C>G (n.561+16C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197143675G>A | CA342262 | ASPM | c.577C>T (p.Gln193Ter) n.794C>T c.561+16C>T (n.561+16C>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.197143675G= | CA1143355894 | ASPM | c.577C= (p.Gln193=) n.794C= c.561+16C= (n.561+16C=) | dbSNP |