| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.52786995A>G | CA2447415 | ITIH1 | c.1784A>G (p.Gln595Arg) c.443A>G (p.Gln148Arg) c.51A>G c.920A>G (p.Gln307Arg) n.1639A>G c.1358A>G (p.Gln453Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52786995A= | CA658657319 | ITIH1 | c.1784A= (p.Gln595=) c.443A= (p.Gln148=) c.51A= c.920A= (p.Gln307=) n.1639A= c.1358A= (p.Gln453=) | dbSNP |