| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.44891898A>G | CA10062857 | ITGB2 | n.530T>C c.1395T>C (p.Val465=) c.1323T>C (p.Val441=) c.1152T>C (p.Val384=) n.723T>C n.3379T>C c.*1150T>C (n.*1150T>C) c.*14T>C (n.*14T>C) c.1116T>C (p.Val372=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44891898A>T | CA512550931 | ITGB2 | n.530T>A c.1395T>A (p.Val465=) c.1323T>A (p.Val441=) c.1152T>A (p.Val384=) n.723T>A n.3379T>A c.*1150T>A (n.*1150T>A) c.*14T>A (n.*14T>A) c.1116T>A (p.Val372=) | dbSNP |
| 21 | g.44891898A>C | CA512550930 | ITGB2 | n.530T>G c.1395T>G (p.Val465=) c.1323T>G (p.Val441=) c.1152T>G (p.Val384=) n.723T>G n.3379T>G c.*1150T>G (n.*1150T>G) c.*14T>G (n.*14T>G) c.1116T>G (p.Val372=) | dbSNP |