| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.101829919G>T | CA3024752 | BANK1 | c.182G>T (p.Arg61Leu) c.71-25116G>T (n.71-25116G>T) c.92G>T (p.Arg31Leu) c.137G>T (p.Arg46Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.101829919G>A | CA210675 | BANK1 | c.182G>A (p.Arg61His) c.71-25116G>A (n.71-25116G>A) c.92G>A (p.Arg31His) c.137G>A (p.Arg46His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.101829919G>C | CA357951973 | BANK1 | c.182G>C (p.Arg61Pro) c.71-25116G>C (n.71-25116G>C) c.92G>C (p.Arg31Pro) c.137G>C (p.Arg46Pro) | dbSNP gnomAD v4 |
| 4 | g.101829919G= | CA1481095035 | BANK1 | c.182G= (p.Arg61=) c.71-25116G= (n.71-25116G=) c.92G= (p.Arg31=) c.137G= (p.Arg46=) | dbSNP |