| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.151859984G>T | CA3523723 | GLRA1 | c.277C>A (p.Arg93=) c.*35C>A (n.*35C>A) n.560C>A c.28C>A (p.Arg10=) n.229+2091G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151859984G>A | CA3523722 | GLRA1 | c.277C>T (p.Arg93Trp) c.*35C>T (n.*35C>T) n.560C>T c.28C>T (p.Arg10Trp) n.229+2091G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |