| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.86674322G>C | CA145339 | AGBL1 | c.3107G>C (p.Cys1036Ser) c.3044G>C (p.Cys1015Ser) n.203G>C c.2969G>C (p.Cys990Ser) c.3011G>C (p.Cys1004Ser) c.2960G>C (p.Cys987Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.86674322G>T | CA393432904 | AGBL1 | c.3107G>T (p.Cys1036Phe) c.3044G>T (p.Cys1015Phe) n.203G>T c.2969G>T (p.Cys990Phe) c.3011G>T (p.Cys1004Phe) c.2960G>T (p.Cys987Phe) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 15 | g.86674322G= | CA2193304029 | AGBL1 | c.3107G= (p.Cys1036=) c.3044G= (p.Cys1015=) n.203G= c.2969G= (p.Cys990=) c.3011G= (p.Cys1004=) c.2960G= (p.Cys987=) | dbSNP |
| 15 | g.86674322G>A | CA393432903 | AGBL1 | c.3107G>A (p.Cys1036Tyr) c.3044G>A (p.Cys1015Tyr) n.203G>A c.2969G>A (p.Cys990Tyr) c.3011G>A (p.Cys1004Tyr) c.2960G>A (p.Cys987Tyr) | dbSNP gnomAD v4 |