| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44372407C>T | CA10575572 | ITGA2B | c.3077G>A (p.Arg1026Gln) c.2391G>A c.270G>A c.54G>A c.2975G>A (p.Arg992Gln) c.2960G>A (p.Arg987Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.44372407C= | CA2261364366 | ITGA2B | c.3077G= (p.Arg1026=) c.2391G= c.270G= c.54G= c.2975G= (p.Arg992=) c.2960G= (p.Arg987=) | dbSNP |
| 17 | g.44372407C>A | CA399787855 | ITGA2B | c.3077G>T (p.Arg1026Leu) c.2391G>T c.270G>T c.54G>T c.2975G>T (p.Arg992Leu) c.2960G>T (p.Arg987Leu) | ClinVar dbSNP |