| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42554888G>T | CA399613804 | HSD17B1 | c.937G>T (p.Gly313Cys) c.940G>T (p.Gly314Cys) c.*393G>T (n.*393G>T) c.1030G>T (p.Gly344Cys) c.1119G>T (p.Ala373=) c.1116G>T (p.Ala372=) c.1033G>T (p.Gly345Cys) c.1026G>T (p.Ala342=) c.1023G>T (p.Ala341=) n.1219G>T n.854G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42554888G>A | CA8577801 | HSD17B1 | c.937G>A (p.Gly313Ser) c.940G>A (p.Gly314Ser) c.*393G>A (n.*393G>A) c.1030G>A (p.Gly344Ser) c.1119G>A (p.Ala373=) c.1116G>A (p.Ala372=) c.1033G>A (p.Gly345Ser) c.1026G>A (p.Ala342=) c.1023G>A (p.Ala341=) n.1219G>A n.854G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42554888G>C | CA8577802 | HSD17B1 | c.937G>C (p.Gly313Arg) c.940G>C (p.Gly314Arg) c.*393G>C (n.*393G>C) c.1030G>C (p.Gly344Arg) c.1119G>C (p.Ala373=) c.1116G>C (p.Ala372=) c.1033G>C (p.Gly345Arg) c.1026G>C (p.Ala342=) c.1023G>C (p.Ala341=) n.1219G>C n.854G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |