Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.73412027A>C | CA127955 | ALB | c.745A>C (p.Lys249Gln) c.400A>C (p.Lys134Gln) c.169A>C (p.Lys57Gln) c.*24A>C (n.*24A>C) c.295A>C (p.Lys99Gln) n.431A>C n.62A>C c.278A>C c.490+2665A>C (n.490+2665A>C) c.486+2951A>C (n.486+2951A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.73412027A>G | CA2959452 | ALB | c.745A>G (p.Lys249Glu) c.400A>G (p.Lys134Glu) c.169A>G (p.Lys57Glu) c.*24A>G (n.*24A>G) c.295A>G (p.Lys99Glu) n.431A>G n.62A>G c.278A>G c.490+2665A>G (n.490+2665A>G) c.486+2951A>G (n.486+2951A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |