| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.31265490G>A | CA8025152 | ITGAM | c.230G>A (p.Arg77His) c.15G>A (p.Pro5=) n.320G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31265490G>T | CA395683320 | ITGAM | c.230G>T (p.Arg77Leu) c.15G>T (p.Pro5=) n.320G>T | dbSNP gnomAD v4 |
| 16 | g.31265490G= | CA2216992176 | ITGAM | c.230G= (p.Arg77=) c.15G= (p.Pro5=) n.320G= | dbSNP |