| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.73419575A>C | CA170820 | ALB | c.1721A>C (p.Asp574Ala) c.1376A>C (p.Asp459Ala) c.1145A>C (p.Asp382Ala) c.*1000A>C (n.*1000A>C) n.29A>C c.1271A>C (p.Asp424Ala) n.1268A>C n.175+120A>C c.1254A>C c.1082A>C (p.Asp361Ala) | ClinVar dbSNP |
| 4 | g.73419575A>G | CA127916 | ALB | c.1721A>G (p.Asp574Gly) c.1376A>G (p.Asp459Gly) c.1145A>G (p.Asp382Gly) c.*1000A>G (n.*1000A>G) n.29A>G c.1271A>G (p.Asp424Gly) n.1268A>G n.175+120A>G c.1254A>G c.1082A>G (p.Asp361Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.73419575A= | CA1468148225 | ALB | c.1721A= (p.Asp574=) c.1376A= (p.Asp459=) c.1145A= (p.Asp382=) c.*1000A= (n.*1000A=) n.29A= c.1271A= (p.Asp424=) n.1268A= n.175+120A= c.1254A= c.1082A= (p.Asp361=) | dbSNP |