| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.101918130G>A | CA3025027 | BANK1 | c.1147G>A (p.Ala383Thr) c.748G>A (p.Ala250Thr) c.1057G>A (p.Ala353Thr) c.1102G>A (p.Ala368Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.101918130G= | CA1481138704 | BANK1 | c.1147G= (p.Ala383=) c.748G= (p.Ala250=) c.1057G= (p.Ala353=) c.1102G= (p.Ala368=) | dbSNP |
| 4 | g.101918130G>T | CA357956363 | BANK1 | c.1147G>T (p.Ala383Ser) c.748G>T (p.Ala250Ser) c.1057G>T (p.Ala353Ser) c.1102G>T (p.Ala368Ser) | dbSNP gnomAD v4 |