| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.186210508C>G | CA358950820 | CYP4V2,KLKB1 | c.1445C>G (p.Ser482Trp) n.680C>G n.6143C>G c.201+1236C>G n.535C>G c.1442C>G (p.Ser481Trp) c.1049C>G (p.Ser350Trp) | dbSNP |
| 4 | g.186210508C>A | CA343719 | CYP4V2,KLKB1 | c.1445C>A (p.Ser482Ter) n.680C>A n.6143C>A c.201+1236C>A n.535C>A c.1442C>A (p.Ser481Ter) c.1049C>A (p.Ser350Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.186210508C>T | CA3162867 | CYP4V2,KLKB1 | c.1445C>T (p.Ser482Leu) n.680C>T n.6143C>T c.201+1236C>T n.535C>T c.1442C>T (p.Ser481Leu) c.1049C>T (p.Ser350Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.186210508C= | CA1519892065 | CYP4V2,KLKB1 | c.1445C= (p.Ser482=) n.680C= n.6143C= c.201+1236C= n.535C= c.1442C= (p.Ser481=) c.1049C= (p.Ser350=) | dbSNP |