Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.230703316del | CA127789 | AGT | c.1263del (p.Phe421LeufsTer25) c.*722del (n.*722del) n.5568del c.1254del (p.Phe418LeufsTer25) c.829+6686del (n.829+6686del) n.3369del c.*757del (n.*757del) c.1290del (p.Phe430LeufsTer25) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.230703316dup | CA1448057 | AGT | c.1263dup (p.Glu422Ter) c.*722dup (n.*722dup) n.5568dup c.1254dup (p.Glu419Ter) c.829+6686dup (n.829+6686dup) n.3369dup c.*757dup (n.*757dup) c.1290dup (p.Glu431Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |