| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.73411996G>C | CA2959448 | ALB | c.714G>C (p.Trp238Cys) c.369G>C (p.Trp123Cys) c.138G>C (p.Leu46Phe) c.311G>C (p.Gly104Ala) c.264G>C (p.Trp88Cys) n.400G>C n.31G>C c.247G>C c.490+2634G>C (n.490+2634G>C) c.486+2920G>C (n.486+2920G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.73411996G>A | CA170833 | ALB | c.714G>A (p.Trp238Ter) c.369G>A (p.Trp123Ter) c.138G>A (p.Leu46=) c.311G>A (p.Gly104Glu) c.264G>A (p.Trp88Ter) n.400G>A n.31G>A c.247G>A c.490+2634G>A (n.490+2634G>A) c.486+2920G>A (n.486+2920G>A) | ClinVar dbSNP |