Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.186210508C>GCA358950820CYP4V2,KLKB1c.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
4g.186210508C>ACA343719CYP4V2,KLKB1c.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
4g.186210508C>TCA3162867CYP4V2,KLKB1c.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

Number of alleles fetched