| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.32920338G>C | CA5465799 | ITGB1 | c.1176C>G (p.Gly392=) c.1200C>G (p.Gly400=) c.1005C>G (p.Gly335=) c.1185C>G (p.Gly395=) n.3156C>G c.*165C>G (n.*165C>G) c.*48C>G (n.*48C>G) c.*982C>G (n.*982C>G) c.1164C>G (p.Gly388=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.32920338G>T | CA5465798 | ITGB1 | c.1176C>A (p.Gly392=) c.1200C>A (p.Gly400=) c.1005C>A (p.Gly335=) c.1185C>A (p.Gly395=) n.3156C>A c.*165C>A (n.*165C>A) c.*48C>A (n.*48C>A) c.*982C>A (n.*982C>A) c.1164C>A (p.Gly388=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |