| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.64016970A>T | CA385662856 | SRGAP1 | c.447A>T (p.Gln149His) c.*274A>T (n.*274A>T) n.461A>T c.327A>T (p.Gln109His) c.24A>T (p.Gln8His) n.896+2723T>A n.925+2723T>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.64016970A>C | CA204459 | SRGAP1 | c.447A>C (p.Gln149His) c.*274A>C (n.*274A>C) n.461A>C c.327A>C (p.Gln109His) c.24A>C (p.Gln8His) n.896+2723T>G n.925+2723T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |