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 |
4 | g.73418211G= | CA1468146909 | ALB | c.1552G= (p.Asp518=) c.1207G= (p.Asp403=) c.976G= (p.Asp326=) c.*831G= (n.*831G=) n.206G= c.1102G= (p.Asp368=) n.1099G= c.1085G= c.913G= (p.Asp305=) | dbSNP |