| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.113391611C>G | CA126933 | ALAD | c.177G>C (p.Lys59Asn) c.204G>C (p.Lys68Asn) n.258-678G>C n.299G>C n.450G>C c.264G>C (p.Lys88Asn) c.303G>C (p.Lys101Asn) c.153G>C (p.Lys51Asn) n.677G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 9 | g.113391611C= | CA1630847959 | ALAD | c.177G= (p.Lys59=) c.204G= (p.Lys68=) n.258-678G= n.299G= n.450G= c.264G= (p.Lys88=) c.303G= (p.Lys101=) c.153G= (p.Lys51=) n.677G= | dbSNP |