| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.43877786T>A | CA346671177 | ABCG8 | c.1895T>A (p.Val632Asp) c.1892T>A (p.Val631Asp) c.1907T>A (p.Val636Asp) c.1904T>A (p.Val635Asp) c.1679T>A (p.Val560Asp) n.2397T>A n.2411T>A | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.43877786T>C | CA1637715 | ABCG8 | c.1895T>C (p.Val632Ala) c.1892T>C (p.Val631Ala) c.1907T>C (p.Val636Ala) c.1904T>C (p.Val635Ala) c.1679T>C (p.Val560Ala) n.2397T>C n.2411T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.43877786T>G | CA1637716 | ABCG8 | c.1895T>G (p.Val632Gly) c.1892T>G (p.Val631Gly) c.1907T>G (p.Val636Gly) c.1904T>G (p.Val635Gly) c.1679T>G (p.Val560Gly) n.2397T>G n.2411T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |