Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.186619924T>C | CA126163 | AHSG | c.743T>C (p.Met248Thr) c.746T>C (p.Met249Thr) c.740T>C (p.Met247Thr) c.676-662T>C (n.676-662T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.186619924T= | CA1427019267 | AHSG | c.743T= (p.Met248=) c.746T= (p.Met249=) c.740T= (p.Met247=) c.676-662T= (n.676-662T=) | dbSNP |
3 | g.186619924T>A | CA355714993 | AHSG | c.743T>A (p.Met248Lys) c.746T>A (p.Met249Lys) c.740T>A (p.Met247Lys) c.676-662T>A (n.676-662T>A) | dbSNP gnomAD v4 |