| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.73418211G>C | CA357244727 | ALB | c.1552G>C (p.Asp518His) c.1207G>C (p.Asp403His) c.976G>C (p.Asp326His) c.*831G>C (n.*831G>C) n.206G>C c.1102G>C (p.Asp368His) n.1099G>C c.1085G>C c.913G>C (p.Asp305His) | dbSNP |
| 4 | g.73418211G>A | CA127941 | ALB | c.1552G>A (p.Asp518Asn) c.1207G>A (p.Asp403Asn) c.976G>A (p.Asp326Asn) c.*831G>A (n.*831G>A) n.206G>A c.1102G>A (p.Asp368Asn) n.1099G>A c.1085G>A c.913G>A (p.Asp305Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |