2 | g.240875125C>T | CA340446 | AGXT | c.697C>T (p.Arg233Cys) n.349C>T
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875125C>A | CA351317985 | AGXT | c.697C>A (p.Arg233Ser) n.349C>A
| dbSNP gnomAD v4 |
2 | g.240875125C= | CA1339334172 | AGXT | c.697C= (p.Arg233=) n.349C=
| dbSNP |