| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.31321334C>T | CA8025662 | ITGAM | c.1801C>T (p.Leu601=) c.1804C>T (p.Leu602=) c.454-3065C>T c.1618C>T (p.Leu540=) n.1894C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31321334C>A | CA395681057 | ITGAM | c.1801C>A (p.Leu601Met) c.1804C>A (p.Leu602Met) c.454-3065C>A c.1618C>A (p.Leu540Met) n.1894C>A | dbSNP gnomAD v4 |
| 16 | g.31321334C= | CA2216974231 | ITGAM | c.1801C= (p.Leu601=) c.1804C= (p.Leu602=) c.454-3065C= c.1618C= (p.Leu540=) n.1894C= | dbSNP |