| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.151859962C>T | CA342950 | GLRA1 | c.299G>A (p.Arg100His) c.*57G>A (n.*57G>A) n.582G>A c.50G>A (p.Arg17His) n.229+2069C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.151859962C= | CA1591582300 | GLRA1 | c.299G= (p.Arg100=) c.*57G= (n.*57G=) n.582G= c.50G= (p.Arg17=) n.229+2069C= | dbSNP |
| 5 | g.151859962C>A | CA361842068 | GLRA1 | c.299G>T (p.Arg100Leu) c.*57G>T (n.*57G>T) n.582G>T c.50G>T (p.Arg17Leu) n.229+2069C>A | dbSNP gnomAD v4 |