Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.186209123C>ACA358950402CYP4V2,KLKB1c.1256C>A (p.Ala419Asp)
n.491C>A
n.5954C>A
c.52C>A
n.346C>A
c.1253C>A (p.Ala418Asp)
c.860C>A (p.Ala287Asp)
4g.186209123C>GCA358950403CYP4V2,KLKB1c.1256C>G (p.Ala419Gly)
n.491C>G
n.5954C>G
c.52C>G
n.346C>G
c.1253C>G (p.Ala418Gly)
c.860C>G (p.Ala287Gly)
4g.186209123C>TCA358950401CYP4V2,KLKB1c.1256C>T (p.Ala419Val)
n.491C>T
n.5954C>T
c.52C>T
n.346C>T
c.1253C>T (p.Ala418Val)
c.860C>T (p.Ala287Val)
 gnomAD v4
4g.186209124C>ACA442882454CYP4V2,KLKB1c.1257C>A (p.Ala419=)
n.492C>A
n.5955C>A
c.53C>A
n.347C>A
c.1254C>A (p.Ala418=)
c.861C>A (p.Ala287=)
4g.186209124C=CA1519891419CYP4V2,KLKB1c.1257C= (p.Ala419=)
n.492C=
n.5955C=
c.53C=
n.347C=
c.1254C= (p.Ala418=)
c.861C= (p.Ala287=)
4g.186209124C>GCA442882456CYP4V2,KLKB1c.1257C>G (p.Ala419=)
n.492C>G
n.5955C>G
c.53C>G
n.347C>G
c.1254C>G (p.Ala418=)
c.861C>G (p.Ala287=)
4g.186209124C>TCA3162812CYP4V2,KLKB1c.1257C>T (p.Ala419=)
n.492C>T
n.5955C>T
c.53C>T
n.347C>T
c.1254C>T (p.Ala418=)
c.861C>T (p.Ala287=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.186209125G>ACA112135002CYP4V2,KLKB1c.1258G>A (p.Val420Ile)
n.493G>A
n.5956G>A
c.54G>A
n.348G>A
c.1255G>A (p.Val419Ile)
c.862G>A (p.Val288Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.186209125G>CCA358950404CYP4V2,KLKB1c.1258G>C (p.Val420Leu)
n.493G>C
n.5956G>C
c.54G>C
n.348G>C
c.1255G>C (p.Val419Leu)
c.862G>C (p.Val288Leu)
4g.186209125G=CA1519891420CYP4V2,KLKB1c.1258G= (p.Val420=)
n.493G=
n.5956G=
c.54G=
n.348G=
c.1255G= (p.Val419=)
c.862G= (p.Val288=)
4g.186209125G>TCA358950405CYP4V2,KLKB1c.1258G>T (p.Val420Phe)
n.493G>T
n.5956G>T
c.54G>T
n.348G>T
c.1255G>T (p.Val419Phe)
c.862G>T (p.Val288Phe)
 dbSNP gnomAD v2 gnomAD v4
4g.186209126T>ACA358950406CYP4V2,KLKB1c.1259T>A (p.Val420Asp)
n.494T>A
n.5957T>A
c.55T>A
n.349T>A
c.1256T>A (p.Val419Asp)
c.863T>A (p.Val288Asp)
4g.186209126T>CCA358950407CYP4V2,KLKB1c.1259T>C (p.Val420Ala)
n.494T>C
n.5957T>C
c.55T>C
n.349T>C
c.1256T>C (p.Val419Ala)
c.863T>C (p.Val288Ala)
4g.186209126T>GCA358950408CYP4V2,KLKB1c.1259T>G (p.Val420Gly)
n.494T>G
n.5957T>G
c.55T>G
n.349T>G
c.1256T>G (p.Val419Gly)
c.863T>G (p.Val288Gly)
4g.186209126dupCA2672897686CYP4V2,KLKB1c.1259dup (p.Ile421HisfsTer22)
n.494dup
n.5957dup
c.55dup
n.349dup
c.1256dup (p.Ile420HisfsTer22)
c.863dup (p.Ile289HisfsTer22)
 gnomAD v4
4g.186209127C>ACA442882466CYP4V2,KLKB1c.1260C>A (p.Val420=)
n.495C>A
n.5958C>A
c.56C>A
n.350C>A
c.1257C>A (p.Val419=)
c.864C>A (p.Val288=)
4g.186209127C>GCA442882467CYP4V2,KLKB1c.1260C>G (p.Val420=)
n.495C>G
n.5958C>G
c.56C>G
n.350C>G
c.1257C>G (p.Val419=)
c.864C>G (p.Val288=)
4g.186209127C>TCA442882470CYP4V2,KLKB1c.1260C>T (p.Val420=)
n.495C>T
n.5958C>T
c.56C>T
n.350C>T
c.1257C>T (p.Val419=)
c.864C>T (p.Val288=)
4g.186209128A=CA1519891421CYP4V2,KLKB1c.1261A= (p.Ile421=)
n.496A=
n.5959A=
c.57A=
n.351A=
c.1258A= (p.Ile420=)
c.865A= (p.Ile289=)
4g.186209128A>CCA358950409CYP4V2,KLKB1c.1261A>C (p.Ile421Leu)
n.496A>C
n.5959A>C
c.57A>C
n.351A>C
c.1258A>C (p.Ile420Leu)
c.865A>C (p.Ile289Leu)
4g.186209128A>GCA358950411CYP4V2,KLKB1c.1261A>G (p.Ile421Val)
n.496A>G
n.5959A>G
c.57A>G
n.351A>G
c.1258A>G (p.Ile420Val)
c.865A>G (p.Ile289Val)
 dbSNP gnomAD v4
4g.186209128A>TCA358950410CYP4V2,KLKB1c.1261A>T (p.Ile421Phe)
n.496A>T
n.5959A>T
c.57A>T
n.351A>T
c.1258A>T (p.Ile420Phe)
c.865A>T (p.Ile289Phe)
4g.186209129T>ACA358950412CYP4V2,KLKB1c.1262T>A (p.Ile421Asn)
n.497T>A
n.5960T>A
c.58T>A
n.352T>A
c.1259T>A (p.Ile420Asn)
c.866T>A (p.Ile289Asn)
4g.186209129T>CCA358950413CYP4V2,KLKB1c.1262T>C (p.Ile421Thr)
n.497T>C
n.5960T>C
c.58T>C
n.352T>C
c.1259T>C (p.Ile420Thr)
c.866T>C (p.Ile289Thr)
4g.186209129T>GCA358950414CYP4V2,KLKB1c.1262T>G (p.Ile421Ser)
n.497T>G
n.5960T>G
c.58T>G
n.352T>G
c.1259T>G (p.Ile420Ser)
c.866T>G (p.Ile289Ser)
4g.186209130C>ACA442882478CYP4V2,KLKB1c.1263C>A (p.Ile421=)
n.498C>A
n.5961C>A
c.59C>A
n.353C>A
c.1260C>A (p.Ile420=)
c.867C>A (p.Ile289=)
4g.186209130C>GCA358950415CYP4V2,KLKB1c.1263C>G (p.Ile421Met)
n.498C>G
n.5961C>G
c.59C>G
n.353C>G
c.1260C>G (p.Ile420Met)
c.867C>G (p.Ile289Met)
4g.186209130C>TCA442882480CYP4V2,KLKB1c.1263C>T (p.Ile421=)
n.498C>T
n.5961C>T
c.59C>T
n.353C>T
c.1260C>T (p.Ile420=)
c.867C>T (p.Ile289=)
4g.186209131A>CCA358950416CYP4V2,KLKB1c.1264A>C (p.Ile422Leu)
n.499A>C
n.5962A>C
c.60A>C
n.354A>C
c.1261A>C (p.Ile421Leu)
c.868A>C (p.Ile290Leu)
4g.186209131A>GCA358950418CYP4V2,KLKB1c.1264A>G (p.Ile422Val)
n.499A>G
n.5962A>G
c.60A>G
n.354A>G
c.1261A>G (p.Ile421Val)
c.868A>G (p.Ile290Val)
 gnomAD v4
4g.186209131A>TCA358950417CYP4V2,KLKB1c.1264A>T (p.Ile422Phe)
n.499A>T
n.5962A>T
c.60A>T
n.354A>T
c.1261A>T (p.Ile421Phe)
c.868A>T (p.Ile290Phe)
4g.186209132T>ACA358950419CYP4V2,KLKB1c.1265T>A (p.Ile422Asn)
n.500T>A
n.5963T>A
c.61T>A
n.355T>A
c.1262T>A (p.Ile421Asn)
c.869T>A (p.Ile290Asn)
4g.186209132T>CCA358950420CYP4V2,KLKB1c.1265T>C (p.Ile422Thr)
n.500T>C
n.5963T>C
c.61T>C
n.355T>C
c.1262T>C (p.Ile421Thr)
c.869T>C (p.Ile290Thr)
4g.186209132T>GCA358950421CYP4V2,KLKB1c.1265T>G (p.Ile422Ser)
n.500T>G
n.5963T>G
c.61T>G
n.355T>G
c.1262T>G (p.Ile421Ser)
c.869T>G (p.Ile290Ser)
4g.186209133T>ACA442882487CYP4V2,KLKB1c.1266T>A (p.Ile422=)
n.501T>A
n.5964T>A
c.62T>A
n.356T>A
c.1263T>A (p.Ile421=)
c.870T>A (p.Ile290=)
4g.186209133T>CCA442882488CYP4V2,KLKB1c.1266T>C (p.Ile422=)
n.501T>C
n.5964T>C
c.62T>C
n.356T>C
c.1263T>C (p.Ile421=)
c.870T>C (p.Ile290=)
 gnomAD v4
4g.186209133T>GCA358950422CYP4V2,KLKB1c.1266T>G (p.Ile422Met)
n.501T>G
n.5964T>G
c.62T>G
n.356T>G
c.1263T>G (p.Ile421Met)
c.870T>G (p.Ile290Met)
4g.186209134C>ACA358950423CYP4V2,KLKB1c.1267C>A (p.Pro423Thr)
n.502C>A
n.5965C>A
c.63C>A
n.357C>A
c.1264C>A (p.Pro422Thr)
c.871C>A (p.Pro291Thr)
4g.186209134C=CA1519891422CYP4V2,KLKB1c.1267C= (p.Pro423=)
n.502C=
n.5965C=
c.63C=
n.357C=
c.1264C= (p.Pro422=)
c.871C= (p.Pro291=)
4g.186209134C>GCA358950424CYP4V2,KLKB1c.1267C>G (p.Pro423Ala)
n.502C>G
n.5965C>G
c.63C>G
n.357C>G
c.1264C>G (p.Pro422Ala)
c.871C>G (p.Pro291Ala)
4g.186209134C>TCA358950425CYP4V2,KLKB1c.1267C>T (p.Pro423Ser)
n.502C>T
n.5965C>T
c.63C>T
n.357C>T
c.1264C>T (p.Pro422Ser)
c.871C>T (p.Pro291Ser)
 dbSNP gnomAD v4
4g.186209135C>ACA358950426CYP4V2,KLKB1c.1268C>A (p.Pro423His)
n.503C>A
n.5966C>A
c.64C>A
n.358C>A
c.1265C>A (p.Pro422His)
c.872C>A (p.Pro291His)
4g.186209135C=CA1519891423CYP4V2,KLKB1c.1268C= (p.Pro423=)
n.503C=
n.5966C=
c.64C=
n.358C=
c.1265C= (p.Pro422=)
c.872C= (p.Pro291=)
4g.186209135C>GCA358950427CYP4V2,KLKB1c.1268C>G (p.Pro423Arg)
n.503C>G
n.5966C>G
c.64C>G
n.358C>G
c.1265C>G (p.Pro422Arg)
c.872C>G (p.Pro291Arg)
4g.186209135C>TCA358950428CYP4V2,KLKB1c.1268C>T (p.Pro423Leu)
n.503C>T
n.5966C>T
c.64C>T
n.358C>T
c.1265C>T (p.Pro422Leu)
c.872C>T (p.Pro291Leu)
 dbSNP gnomAD v4
4g.186209136C>ACA442882497CYP4V2,KLKB1c.1269C>A (p.Pro423=)
n.504C>A
n.5967C>A
c.65C>A
n.359C>A
c.1266C>A (p.Pro422=)
c.873C>A (p.Pro291=)
4g.186209136C=CA1519891424CYP4V2,KLKB1c.1269C= (p.Pro423=)
n.504C=
n.5967C=
c.65C=
n.359C=
c.1266C= (p.Pro422=)
c.873C= (p.Pro291=)
4g.186209136C>GCA442882499CYP4V2,KLKB1c.1269C>G (p.Pro423=)
n.504C>G
n.5967C>G
c.65C>G
n.359C>G
c.1266C>G (p.Pro422=)
c.873C>G (p.Pro291=)
4g.186209136C>TCA112135019CYP4V2,KLKB1c.1269C>T (p.Pro423=)
n.504C>T
n.5967C>T
c.65C>T
n.359C>T
c.1266C>T (p.Pro422=)
c.873C>T (p.Pro291=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.186209137T>ACA358950429CYP4V2,KLKB1c.1270T>A (p.Tyr424Asn)
n.505T>A
n.5968T>A
c.66T>A
n.360T>A
c.1267T>A (p.Tyr423Asn)
c.874T>A (p.Tyr292Asn)

Number of alleles fetched