| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.86674435C>T | CA145337 | AGBL1 | c.3220C>T (p.Arg1074Ter) c.3157C>T (p.Arg1053Trp) n.316C>T c.3082C>T (p.Arg1028Trp) c.3082C>T (p.Arg1028Ter) c.3157C>T (p.Arg1053Ter) c.3124C>T (p.Arg1042Trp) c.3073C>T (p.Arg1025Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.86674435C>A | CA492229070 | AGBL1 | c.3220C>A (p.Arg1074=) c.3157C>A (p.Arg1053=) n.316C>A c.3082C>A (p.Arg1028=) c.3124C>A (p.Arg1042=) c.3073C>A (p.Arg1025=) | dbSNP gnomAD v4 |
| 15 | g.86674435C= | CA2193304249 | AGBL1 | c.3220C= (p.Arg1074=) c.3157C= (p.Arg1053=) n.316C= c.3082C= (p.Arg1028=) c.3124C= (p.Arg1042=) c.3073C= (p.Arg1025=) | dbSNP |